Browse Rare Disease Information

The RARe-SOURCE® platform integrates comprehensive information on rare diseases with known genetic associations. View detailed disease information and explore detailed disease information, associated genes, linked publications, and cross-references.

Rare Disease Name	Disease Aliases	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	OMIM	Orphanet	UMLS	Mesh	Gene Descriptions	Links	PMID Count
GRACILE syndrome	fellman disease//fellman syndrome//finnish lactic acidosis with hepatic hemosiderosis//finnish lethal neonatal metabolic syndrome//flnms//growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome//growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome//growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death	BCS1L	BCS1L	https://raresource.nih.gov/literature/disease/0000001	0000001	603358	53693	C1864002	C537934	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GRACILE syndrome"	30
Ablepharon macrostomia syndrome	ams	TWIST2	TWIST2	https://raresource.nih.gov/literature/disease/0000003	0000003	200110	920	C1860224	C535557	twist family bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ablepharon macrostomia syndrome"	1579
Abetalipoproteinaemia	abetalipoproteinemia//abetalipoproteinemia neuropathy//abl//abl - abetalipoproteinemia//apolipoprotein b deficiency//bassen-kornzweig disease//congenital betalipoprotein deficiency syndrome//familial hypobetalipoproteinemia//homozygous familial hypobetalipoproteinemia//microsomal triglyceride transfer protein deficiency disease//mtp deficiency	MTTP	MTTP	https://raresource.nih.gov/literature/disease/0000005	0000005	200100	14	C0000744	D000012	microsomal triglyceride transfer protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Abetalipoproteinaemia"	825
Acromicric dysplasia	acmicd//acromicric skeletal dysplasia	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0000007	0000007	102370	969	C0265287	C535662	fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromicric dysplasia"	35
Alternating hemiplegia of childhood	adrenal hypoplasia congenita//ahc//alternating hemiplegia syndrome//childhood alternating hemiplegia//congenital adrenal gland hypoplasia//congenital adrenal hypoplasia//paediatric alternating hemiplegia//pediatric alternating hemiplegia	MT-TL2;SLC2A1;ATP1A2;SCN2A;ATP1A3;RHOBTB2	MT-TL2;SLC2A1;ATP1A2;SCN2A;ATP1A3;RHOBTB2	https://raresource.nih.gov/literature/disease/0000011	0000011		2131	C0338488	C536589	mitochondrially encoded tRNA-Leu (CUN) 2; solute carrier family 2 member 1; ATPase Na+/K+ transporting subunit alpha 2; sodium voltage-gated channel alpha subunit 2; ATPase Na+/K+ transporting subunit alpha 3; Rho related BTB domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alternating hemiplegia of childhood"	978
Gillespie syndrome	aniridia cerebellar ataxia mental deficiency//aniridia, cerebellar ataxia and mental deficiency//aniridia, cerebellar ataxia, and intellectual disability//aniridia, cerebellar ataxia, and mental deficiency//aniridia, cerebellar ataxia, and mental retardation//aniridia, cerebellar ataxia, intellectual disability syndrome//aniridia-cerebellar ataxia-intellectual disability syndrome//glsp	ITPR1	ITPR1	https://raresource.nih.gov/literature/disease/0000013	0000013	206700	1065	C0431401	C536370	inositol 1,4,5-trisphosphate receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gillespie syndrome"	47
Dihydropyrimidine dehydrogenase deficiency	dihydrothymine dehydrogenase deficiency//dihydrouracil dehydrogenase (nadp) deficiency//dihydrouracil dehydrogenase (nadp^+^) deficiency//dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency//dihydrouracil dehydrogenase deficiency//dpd - dihydropyrimidine dehydrogenase deficiency//dpd deficiency//dpyd deficiency//dpydd//dypd deficiency//familial pyrimidinaemia//familial pyrimidinemia//hereditary thymine-uraciluria//sensitivity to fluorouracil toxicity//thymine-uracilurea	DPYD	DPYD	https://raresource.nih.gov/literature/disease/0000019	0000019	274270	1675	C1959620	D054067	dihydropyrimidine dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dihydropyrimidine dehydrogenase deficiency"	366
Pili torti-deafness syndrome	bjornstad syndrome//bjornstad's syndrome//bjs//björnstad syndrome//deafness-pili torti-hypogonadism syndrome//hearing loss-pili torti-hypogonadism syndrome//pili torti and nerve deafness	BCS1L	BCS1L	https://raresource.nih.gov/literature/disease/0000022	0000022	262000	123	C0266006	C537633	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pili torti-deafness syndrome"	1019
Blepharophimosis, ptosis, and epicanthus inversus syndrome	blepharophimosis epicanthus inversus ptosis syndrome//blepharophimosis types 1 and 2//blepharophimosis, epicanthus inversus, and ptosis, type 1//blepharophimosis, epicanthus inversus, and ptosis, type 2//blepharophimosis, ptosis, and epicanthus inversus//blepharophimosis, ptosis, epicanthus inversus syndrome//blepharophimosis-epicanthus inversus-ptosis syndrome//blepharophimosis-ptosis-epicanthus inversus syndrome//bpes//bpes - blepharophimosis epicanthus inversus ptosis syndrome	FOXL2	FOXL2	https://raresource.nih.gov/literature/disease/0000023	0000023	110100	126	C0220663	C562419	forkhead box L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis, ptosis, and epicanthus inversus syndrome"	295
Cat eye syndrome	cat-eye syndrome (type i)//ces//ces - cat eye syndrome//chromosome 22 partial tetrasomy//inv dup(22)(q11)//schachenmann's syndrome//schmid-fraccaro syndrome	CECR	CECR	https://raresource.nih.gov/literature/disease/0000026	0000026	115470	195	C0265493	C535918	cat eye syndrome chromosome region	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cat eye syndrome"	899
Catel-Manzke syndrome	hyperphalangy-clinodactyly of index finger with pierre robin syndrome//index finger anomaly with pierre robin syndrome//index finger anomaly-pierre robin syndrome//micrognathia digital syndrome//palatodigital syndrome catel-manzke type//palatodigital syndrome, catel-manzke type//pierre robin sequence-hyperphalangy-clinodactyly syndrome//pierre robin syndrome with hyperphalangy and clinodactyly//pierre robin syndrome-hyperphalangy-clinodactyly syndrome	TGDS	TGDS	https://raresource.nih.gov/literature/disease/0000028	0000028	616145	1388	C1844887	C535347	TDP-glucose 4,6-dehydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catel-Manzke syndrome"	32
CHARGE syndrome	charge association//coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association//coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association//coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome//hall-hittner syndrome	CHD7	CHD7	https://raresource.nih.gov/literature/disease/0000029	0000029		138		D058747	chromodomain helicase DNA binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHARGE syndrome"	804
Haim-Munk syndrome	cochin jewish disorder//hms//keratosis palmoplantaris with periodontopathia and onychogryposis//keratosis palmoplantaris with periodontopathia and onychogryposis syndrome//keratosis palmoplantaris-periodontopathia-onychogryposis syndrome//palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome//palmoplantar keratoderma-periodontopathia-onychogryposis syndrome	CTSC	CTSC	https://raresource.nih.gov/literature/disease/0000044	0000044	245010	2342	C1855627	C537627	cathepsin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Haim-Munk syndrome"	471
Crigler-Najjar syndrome type 1	bilirubin glucuronosyltransferase deficiency//bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1//bilirubin-ugt deficiency type 1//crigler-najjar syndrome type i//crigler-najjar syndrome, type i//crigler-najjar type 1//deficiency of glucuronosyltransferase//glucuronyltransferase deficiency//hereditary unconjugated hyperbilirubinemia type 1//hyperbilirubinemia, crigler-najjar type 1//hyperbilirubinemia, crigler-najjar type i//udp glucuronyl transferase deficiency//ugt deficiency type 1	UGT1A1	UGT1A1	https://raresource.nih.gov/literature/disease/0000047	0000047	218800	79234	C0010324		UDP glucuronosyltransferase family 1 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crigler-Najjar syndrome type 1"	162
Spinocerebellar ataxia type 34	erythrokeratodermia with ataxia//sca34//spinocerebellar ataxia and erythrokeratodermia	ELOVL4	ELOVL4	https://raresource.nih.gov/literature/disease/0000059	0000059	133190	1955	C1851481	C535738	ELOVL fatty acid elongase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 34"	1438
Filippi syndrome	flpis//type 1 syndactyly, microcephaly, intellectual disability syndrome//type 1 syndactyly-microcephaly-intellectual disability syndrome	CKAP2L	CKAP2L	https://raresource.nih.gov/literature/disease/0000062	0000062	272440	3255	C0795940	C538152	cytoskeleton associated protein 2 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Filippi syndrome"	27
Galloway-Mowat syndrome	galloway syndrome//microcephaly, hiatal hernia and nephrotic syndrome//microcephaly, hiatus hernia, nephrotic syndrome//microcephaly-hiatus hernia-nephrotic syndrome//nephrosis, neuronal dysmigration syndrome//nephrosis-microcephaly syndrome//nephrosis-neuronal dysmigration syndrome//spinocerebellar ataxia, autosomal recessive 5	NUP133;GON7;TPRKB;OSGEP;WDR73;YRDC;TP53RK;WDR4;NUP107;LAGE3	NUP133;GON7;TPRKB;OSGEP;WDR73;YRDC;TP53RK;WDR4;NUP107;LAGE3	https://raresource.nih.gov/literature/disease/0000065	0000065		2065	C0795949	C537548	nucleoporin 133; GON7 subunit of KEOPS complex; TP53RK binding protein; O-sialoglycoprotein endopeptidase; WD repeat domain 73; yrdC N6-threonylcarbamoyltransferase domain containing; TP53 regulating kinase; WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit; nucleoporin 107; L antigen family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome"	96
Hyper-IgM syndrome type 1	higm1//higmx-1//hyper igm syndromes//hyper-igm immunodeficiency syndrome, type 1//hyper-igm syndrome due to cd40 ligand deficiency//hyper-igm syndrome due to cd40l deficiency//hyper-igm syndrome, x-linked//immunodeficiency, x-linked, with hyper-igm//immunodeficiency, x-linked, with hyper-igm, x-linked recessive//x-linked hyper-igm syndrome//x-linked hyper-immunoglobulin m syndrome//x-linked with hyper-igm immunodeficiency//xhigm	CD40LG	CD40LG	https://raresource.nih.gov/literature/disease/0000073	0000073	308230	101088	C0398689	D053307	CD40 ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgM syndrome type 1"	276
Metaphyseal chondrodysplasia, Jansen type	jansen disease//jansen metaphyseal chondrodysplasia//jansen metaphyseal dysostosis//jansen type metaphyseal chondrodysplasia//jansen's metaphyseal chondrodysplasia//metaphyseal chondrodysplasia murk jansen type//metaphyseal chondrodysplasia, murk jansen type//metaphyseal dysostosis, jansen type//murk jansen type metaphyseal chondrodysplasia	PTH1R	PTH1R	https://raresource.nih.gov/literature/disease/0000079	0000079	156400	33067	C0265295	C537564	parathyroid hormone 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal chondrodysplasia, Jansen type"	52
Johanson-Blizzard syndrome	jbs//nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness//pancreatic insufficiency, combined exocrine	UBR1	UBR1	https://raresource.nih.gov/literature/disease/0000080	0000080	243800	2315	C0175692	C535880;C564907	ubiquitin protein ligase E3 component n-recognin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Johanson-Blizzard syndrome"	148
Intellectual disability, X-linked syndromic, Turner type	brooks wisniewski brown syndrome//brooks-wisniewski-brown syndrome//intellectual developmental disorder, x-linked, syndromic, turner type//mental retardation and macrocephaly syndrome//mental retardation, x-linked, syndromic, turner type//mrxst//syndromic x-linked intellectual disability turner type//x-linked intellectual disability brooks type//x-linked intellectual disability, brooks type//x-linked intellectual disability, turner type	HUWE1	HUWE1	https://raresource.nih.gov/literature/disease/0000081	0000081	309590		C2678046	C563154;C567476	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked syndromic, Turner type"	4
KBG syndrome	kbgs//short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome//short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome//short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome	ANKRD11	ANKRD11	https://raresource.nih.gov/literature/disease/0000082	0000082	148050	2332	C0220687	C537015	ankyrin repeat domain containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KBG syndrome"	172
Autosomal dominant Kenny-Caffey syndrome	dwarfism, cortical thickening of tubular bones and transient hypocalcemia//dwarfism, cortical thickening of tubular bones, and transient hypocalcemia//kcs2//kenny-caffey syndrome type 2//kenny-caffey syndrome, autosomal dominant//kenny-caffey syndrome, type 2	FAM111A	FAM111A	https://raresource.nih.gov/literature/disease/0000083	0000083	127000	93325	C4316787		FAM111 trypsin like peptidase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Kenny-Caffey syndrome"	20
Congenital generalized lipodystrophy type 1	agpat2 congenital generalised lipodystrophy (disease)//agpat2 congenital generalized lipodystrophy (disease)//berardinelli-seip congenital lipodystrophy type 1//berardinelli-seip congenital lipodystrophy, type 1//brunzell syndrome agpat2-related//brunzell syndrome, agpat2-related//bscl1//cgl1//congenital generalised lipodystrophy (disease) caused by mutation in agpat2//congenital generalized lipodystrophy (disease) caused by mutation in agpat2	AGPAT2	AGPAT2	https://raresource.nih.gov/literature/disease/0000084	0000084	608594		C1720862		1-acylglycerol-3-phosphate O-acyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital generalized lipodystrophy type 1"	19
Thanatophoric dysplasia	fgfr3-related thanatophoric dysplasia//td//td - thanatophoric dwarfism//thanatophoric dwarf//thanatophoric dwarfism//thanatophoric dwarfism syndrome//thanatophoric short stature	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0000085	0000085		2655	C0039743	D013796	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thanatophoric dysplasia"	5599
Chudley-McCullough syndrome	cmcs//deafness, autosomal recessive 82//deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts	GPSM2	GPSM2	https://raresource.nih.gov/literature/disease/0000086	0000086	604213	314597	C1858695	C535459	G protein signaling modulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chudley-McCullough syndrome"	81
Lenz microphthalmia syndrome	lenz dysplasia//lenz microphthalmia//lenz microphthamia syndrome//microphthalmia, lenz type	NAA10;BCOR	NAA10;BCOR	https://raresource.nih.gov/literature/disease/0000087	0000087		568	CN305341		N-alpha-acetyltransferase 10, NatA catalytic subunit; BCL6 corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lenz microphthalmia syndrome"	31
Acroerythrokeratoderma	keratosis palmoplantaris transgrediens of siemens//mal de meleda//mdm//meleda disease//palmoplantar keratoderma, gamborg nielsen type//palmoplantar keratoderma, norrbotten recessive type//transgrediens palmoplantar keratoderma of siemens	SLURP1	SLURP1	https://raresource.nih.gov/literature/disease/0000092	0000092	248300	87503	C0025221		secreted LY6/PLAUR domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acroerythrokeratoderma"	211
Monilethrix	beaded hair//congenital beaded hair//moniliform hair syndrome	KRT83;KRT81;DSG4;KRT86	KRT83;KRT81;DSG4;KRT86	https://raresource.nih.gov/literature/disease/0000093	0000093		573	C0546966	D056734	keratin 83; keratin 81; desmoglein 4; keratin 86	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monilethrix"	120
Mucolipidosis type IV	ml 4//ml iv//ml4//mliv//mucolipidosis iv//mucolipidosis type 4//sialolipidosis	MCOLN1	MCOLN1	https://raresource.nih.gov/literature/disease/0000094	0000094	252650	578	C0238286		mucolipin TRP cation channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucolipidosis type IV"	1555
Mulibrey nanism syndrome	mul//mulibrey dwarfism//mulibrey growth disorder//mulibrey nanism//muscle, liver, brain, eye nanism syndrome//muscle-liver-brain-eye nanism//perheentupa syndrome//pericardial constriction and growth failure//pericardial constriction-growth failure syndrome	TRIM37	TRIM37	https://raresource.nih.gov/literature/disease/0000095	0000095	253250	2576	C0524582	D050336	tripartite motif containing 37	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mulibrey nanism syndrome"	88
Ochoa syndrome	hydronephrosis with peculiar facial expression//hydronephrosis-inverted smile syndrome//inverted smile and occult neuropathic bladder//inverted smile-neurogenic bladder syndrome//partial facial palsy with urinary abnormalities//urofacial syndrome	LRIG2;HPSE2	LRIG2;HPSE2	https://raresource.nih.gov/literature/disease/0000104	0000104		2704	C0403555	C536480	leucine rich repeats and immunoglobulin like domains 2; heparanase 2 (inactive)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ochoa syndrome"	57
Adult polyglucosan body disease	apbd//apbn//polyglucosan body disease adult form//polyglucosan body disease, adult form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0000108	0000108	263570	206583	C1849722	C564878	1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult polyglucosan body disease"	105
Progressive osseous heteroplasia	cutaneous ossification//cutaneous osteosis//ectopic ossification, familial//familial ectopic ossification//miliary osteoma//osseus heteroplasia, progressive//osteodermia//osteoma cutis//osteomatosis//osteosis cutis//poh//progressive osseus heteroplasia (poh)	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0000109	0000109	166350	2762	C0334041	C562735	GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive osseous heteroplasia"	512
Charcot-Marie-Tooth disease X-linked recessive 5	charcot-marie-tooth disease x-linked recessive type 5//charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive//charcot-marie-tooth disease, x-linked recessive, type 5//charcot-marie-tooth neuropathy x type 5//charcot-marie-tooth neuropathy x-linked recessive 5//charcot-marie-tooth neuropathy, x-linked recessive, 5//cmt5x//cmtx5//familial opticoacoustic nerve degeneration and polyneuropathy//optic atrophy, neural deafness, and distal neurogenic amyotrophy//optic atrophy, polyneuropathy, and deafness//optic atrophy, sensorineural hearing loss and polyneuropathy//prps1-related charcot-marie-tooth neuropathy x type 5//rosenberg chutorian syndrome//rosenberg-chutorian syndrome//x-linked charcot-marie-tooth disease type 5	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0000114	0000114	311070	99014	C1839566		phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease X-linked recessive 5"	16
Alpha-N-acetylgalactosaminidase deficiency type 1	alpha-n-acetylgalactosaminidase deficiency, type i//naga (alpha-n-acetylgalactosaminidase) deficiency type 1//naga deficiency type 1//naga deficiency, type i//neuroaxonal dystrophy, schindler type//schindler disease type 1//schindler disease, type i//schindler disease, type iii	NAGA	NAGA	https://raresource.nih.gov/literature/disease/0000116	0000116	609241	79279	C1836544		alpha-N-acetylgalactosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-N-acetylgalactosaminidase deficiency type 1"	1
Schinzel-Giedion syndrome	schinzel-giedion midface-retraction syndrome//sgs	SETBP1	SETBP1	https://raresource.nih.gov/literature/disease/0000117	0000117	269150	798	C0265227	C536632	SET binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schinzel-Giedion syndrome"	459
Ulnar-mammary syndrome	pallister ulnar-mammary syndrome//schinzel syndrome//ulnar-mammary syndrome of pallister//ums	TBX3	TBX3	https://raresource.nih.gov/literature/disease/0000118	0000118	181450	3138	C1866994	C536937	T-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ulnar-mammary syndrome"	238
Focal facial dermal dysplasia type III	bitemporal forceps marks syndrome//ffdd type 2//ffdd type iii//ffdd3//focal facial dermal dysplasia 3//focal facial dermal dysplasia 3, setleis type//focal facial dermal dysplasia, type ii//setleis syndrome	TWIST2	TWIST2	https://raresource.nih.gov/literature/disease/0000121	0000121	227260	1807	C1744559		twist family bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal facial dermal dysplasia type III"	32
Singleton-Merten syndrome	merten-singleton syndrome//singleton-merten dysplasia//sm syndrome	RIGI;IFIH1	RIGI;IFIH1	https://raresource.nih.gov/literature/disease/0000122	0000122		85191	C0432254	C537343	RNA sensor RIG-I; interferon induced with helicase C domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Singleton-Merten syndrome"	53
Acrokerato-elastoidosis	acrokeratoelastoidosis of costa//ake//collagenous plaques of hands and feet//keratoderma, palmoplantar, punctate type 3//palmoplantar keratoderma, punctate type iii//ppkp3//punctate palmoplantar hyperkeratosis type 3//punctate palmoplantar keratoderma type 3//punctate palmoplantar keratoderma type iii	CCDC91	CCDC91	https://raresource.nih.gov/literature/disease/0000125	0000125	101850	38	C0545044	C535653	coiled-coil domain containing 91	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrokerato-elastoidosis"	32
Spondyloepimetaphyseal dysplasia, Strudwick type	dappled metaphysis syndrome//semd - spondyloepimetaphyseal dysplasia, strudwick type//semdstwk//spondyloepimetaphyseal dysplasia congenita, strudwick type//strudwick syndrome	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0000134	0000134	184250	93346	C0700635		collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Strudwick type"	4
Familial atrial myxoma		PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0000139	0000139	255960	615	C2931787	C538262	protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial atrial myxoma"	5
Laurin-Sandrow syndrome	fibula and ulna, duplication of, with absence of tibia and radius//lss//mirror hands and feet co-occurrent with nasal defect//mirror hands and feet with nasal defects//mirror hands and feets-nasal defects syndrome//sandrow syndrome//tetramelic mirror-image polydactyly	LMBR1	LMBR1	https://raresource.nih.gov/literature/disease/0000155	0000155	135750	2378	C1851100	C535689	limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laurin-Sandrow syndrome"	1149
Muscle eye brain disease	meb//meb syndrome//muscle-eye-brain syndrome//santavuori congenital muscular dystrophy	POMT2;CRPPA;POMGNT1;FKTN;FKRP;GMPPB;B3GALNT2;POMT1	POMT2;CRPPA;POMGNT1;FKTN;FKRP;GMPPB;B3GALNT2;POMT1	https://raresource.nih.gov/literature/disease/0000156	0000156		588	C0457133		protein O-mannosyltransferase 2; CDP-L-ribitol pyrophosphorylase A; protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-); fukutin; fukutin related protein; GDP-mannose pyrophosphorylase B; beta-1,3-N-acetylgalactosaminyltransferase 2; protein O-mannosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscle eye brain disease"	241
Sarcosine dehydrogenase deficiency	deficiency of the sarcosine dehydrogenase complex//demethylation defect of n-methylglycine//high plasma sarcosine levels//hypersarcosinemia//sar//sarcosine dehydrogenase complex deficiency//sarcosinemia//sarcosinuria//sard deficiency//sardh deficiency	SARDH	SARDH	https://raresource.nih.gov/literature/disease/0000158	0000158	268900	3129	C0268563	C537236	sarcosine dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sarcosine dehydrogenase deficiency"	839
Scalp-ear-nipple syndrome	finlay marks syndrome//finlay-marks syndrome//hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples//sen syndrome//sens	KCTD1	KCTD1	https://raresource.nih.gov/literature/disease/0000159	0000159	181270	2036	C1867020	C536623	potassium channel tetramerization domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Scalp-ear-nipple syndrome"	50
Schizencephaly	familial schizencephaly, emx2-related//familial schizencephaly, six3-related	SIX3;EMX2	SIX3;EMX2	https://raresource.nih.gov/literature/disease/0000166	0000166	269160	799	C0266484	D065707	SIX homeobox 3; empty spiracles homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schizencephaly"	460
Schneckenbecken dysplasia	chondrodysplasia with snail-like pelvis//slc35d1-cdg	SLC35D1	SLC35D1	https://raresource.nih.gov/literature/disease/0000169	0000169	269250	3144	C0432194	C536637	solute carrier family 35 member D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schneckenbecken dysplasia"	16
Sialic acid storage disease, severe infantile type	free sialic acid storage disease, infantile form//infantile free sialic acid storage disease//infantile sialic acid storage disease//infantile sialic acid storage disorder//issd//n-acetylneuraminic acid storage disease//nana storage disease//sialic acid storage disorder, infantile//sialuria, infantile form//sialuria, infantile type	SLC17A5	SLC17A5	https://raresource.nih.gov/literature/disease/0000175	0000175	269920	309324	C1096902		solute carrier family 17 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sialic acid storage disease, severe infantile type"	85
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	alport syndrome with macrothrombocytopenia//bleeding disorder, platelet-type, 6//dohle leukocyte inclusions with giant platelets//epstein syndrome//fechtner syndrome//giant platelet syndrome with thrombocytopenia//macrothrombocytopenia and progressive sensorineural deafness//macrothrombocytopenia with dispersed leukocytic inclusions//macrothrombocytopenia with leukocyte inclusions//macrothrombocytopenia, nephritis, and deafness//macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions//matins//may-hegglin anomaly//myh-9 related disease//myh9 related disease//myh9-rd//myh9-related disease//myh9-related disorder//myh9-related syndrome//myh9-related syndromic thrombocytopenia//myosin heavy chain 9 non muscle related disease//sebastian platelet syndrome//sebastian syndrome	MYH9	MYH9	https://raresource.nih.gov/literature/disease/0000180	0000180	155100	182050	C5200934	C537831	myosin heavy chain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	440
Stargardt disease	familial juvenile macular degeneration syndrome//ffm//ffm - fundus flavimaculatus//fundus flavimaculatus//stargardt 1//stargardt disease, autosomal recessive//stargardt's disease	PROM1;ELOVL4;ABCA4	PROM1;ELOVL4;ABCA4	https://raresource.nih.gov/literature/disease/0000181	0000181		827	C0271093	D000080362	prominin 1; ELOVL fatty acid elongase 4; ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stargardt disease"	1362
Vitelliform macular dystrophy 2	best disease//best macular dystrophy//best vitelliform macular dystrophy//best vitelliform macular dystrophy, multifocal//best1 retinopathy//bmd//bmd - best macular dystrophy//bvmd//bvmd - best vitelliform macular dystrophy//early-onset vitelliform macular dystrophy//juvenile-onset vitelliform macular dystrophy//macular degeneration, polymorphic vitelline//macular dystrophy, vitelliform, type 2//polymorphic vitelline macular degeneration//vitelliform macular dystrophy type 2//vitelliform macular dystrophy, early-onset//vitelliform macular dystrophy, juvenile-onset	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0000182	0000182	153700	1243	C2745945		bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitelliform macular dystrophy 2"	2074
Yellow nail syndrome	hereditary lymphedema and yellow nails//lymphedema and yellow nails//lymphedema with yellow nails//yns	CELSR1	CELSR1	https://raresource.nih.gov/literature/disease/0000184	0000184	153300	662	C0221348	D056684	cadherin EGF LAG seven-pass G-type receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Yellow nail syndrome"	368
Y chromosome infertility due to DAZ1 deletion		DAZ1	DAZ1	https://raresource.nih.gov/literature/disease/0000185	0000185					deleted in azoospermia 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Y chromosome infertility due to DAZ1 deletion"	9563
Opitz G/BBB syndrome	hypertelorism-hypospadias syndrome//hypertelorism-oesophageal abnormality-hypospadias syndrome//hypospadias-dysphagia syndrome//hypospadias-hypertelorism syndrome//opitz bbb/g syndrome//opitz bbbg syndrome//opitz g syndrome//opitz syndrome//opitz-frias syndrome	MID1	MID1	https://raresource.nih.gov/literature/disease/0000193	0000193		2745	CN263119		midline 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Opitz G/BBB syndrome"	134
Gamma-aminobutyric acid transaminase deficiency	4 alpha aminobutyrate transaminase deficiency//gaba aminotransaminase deficiency//gaba aminotransferase deficiency//gaba transaminase deficiency//gabatd//gamma aminobutyrate transaminase deficiency	ABAT	ABAT	https://raresource.nih.gov/literature/disease/0000194	0000194	613163	2066	C0342708	C535407	4-aminobutyrate aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gamma-aminobutyric acid transaminase deficiency"	24
Hyperkalemic periodic paralysis	adynamia episodica hereditaria//adynamia episodica hereditaria with or without myotonia//familial hyperkalemic periodic paralysis//familial hyperkalemic periodic paralysis (disorder) [ambiguous]//familial hyperpp//gamstorp disease//gamstorp episodic adynamy//hyperkalemic periodic paralysis, type 2//hyperkalemic pp//hyperkpp//hyperpp//hypp//normokalemic periodic paralysis, potassium-sensitive//periodic hyperkalemic paralysis//periodic paralysis ii//primary hyperkalemic periodic paralysis//primary hyperpp	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0000195	0000195	170500	682	C0238357	D020513	sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperkalemic periodic paralysis"	330
Kugelberg-Welander disease	familial spinal muscular atrophy//juvenile spinal muscular atrophy//kugelberg welander syndrome//kugelberg-welander syndrome//muscular atrophy, juvenile//proximal spinal muscular atrophy type 3//sma iii//sma type 3//sma type iii//sma-iii//sma3//spinal muscular atrophy iii//spinal muscular atrophy type 3//spinal muscular atrophy type iii//spinal muscular atrophy, familial//spinal muscular atrophy, mild childhood and adolescent form//spinal muscular atrophy, type iii//spinal muscular atrophy, type iii, modifier of//spinal muscular atrophy-3//type iii spinal muscular atrophy	SMN1	SMN1	https://raresource.nih.gov/literature/disease/0000198	0000198	253400	83419	C0152109		survival of motor neuron 1, telomeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kugelberg-Welander disease"	294
Familial caudal dysgenesis	caudal regression//rudd klimek syndrome//rudd-klimek syndrome	VANGL1	VANGL1	https://raresource.nih.gov/literature/disease/0000215	0000215	600145	1768	C2931053		VANGL planar cell polarity protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial caudal dysgenesis"	1260
Rotor syndrome	hblrr//hyperbilirubinemia type i//hyperbilirubinemia, rotor type//hyperbilirubinemia, rotor type, digenic	SLCO1B3;SLCO1B1	SLCO1B3;SLCO1B1	https://raresource.nih.gov/literature/disease/0000218	0000218	237450	3111	C0220991		solute carrier organic anion transporter family member 1B3; solute carrier organic anion transporter family member 1B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rotor syndrome"	75
Radial hemimelia	congenital longitudinal deficiency of the radius//longitudinal deficiency of radius//longitudinal reduction defect of radius//radial clubhand//radial longitidinal meromelia//radial ray agenesis	LMBR1;SHH	LMBR1;SHH	https://raresource.nih.gov/literature/disease/0000225	0000225		93321	C0265581		limb development membrane protein 1; sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radial hemimelia"	41
Rabson-Mendenhall syndrome	mendenhall syndrome//pineal hyperplasia and diabetes mellitus syndrome//pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities//pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	INSR	INSR	https://raresource.nih.gov/literature/disease/0000226	0000226	262190	769	C0271695		insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rabson-Mendenhall syndrome"	548
Medullary sponge kidney	cacchi-ricci disease//msk//precalicial canalicular ectasia	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0000232	0000232		1309	C0022681	D007691	HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Medullary sponge kidney"	700
D-Glyceric aciduria	d-glycerate kinase deficiency//d-glyceric acidemia//d-glycericacidemia//deficiency of glycerate kinase//glycerate kinase deficiency	GLYCTK	GLYCTK	https://raresource.nih.gov/literature/disease/0000234	0000234	220120	941	C0342765	C535767	glycerate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D-Glyceric aciduria"	26
Craniodiaphyseal dysplasia, autosomal dominant	cdd	SOST	SOST	https://raresource.nih.gov/literature/disease/0000249	0000249			C2675746	C567275	sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniodiaphyseal dysplasia, autosomal dominant"	2083
Schwartz-Jampel syndrome	aberfeld syndrome//burton skeletal dysplasia//burton syndrome//catel hempel syndrome//catel-hempel syndrome//catel-hempel type dysostosis enchondralis metaepiphysaria//chondrodystrophic myotonia//dysostosis enchondralis metaepiphysaria, catel-hempel type//myotonia chondrodystrophica//myotonic chondrodystrophy//myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities//myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies//osteochondromuscular dystrophy//schwartz-jampel-aberfeld syndrome//sjs//sjs1	HSPG2	HSPG2	https://raresource.nih.gov/literature/disease/0000250	0000250		800	C0036391		heparan sulfate proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schwartz-Jampel syndrome"	2744
NARP syndrome	narp (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome//neurogenic muscle weakness, ataxia and retinitis pigmentosa//neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome//neuropathy-ataxia-retinitis pigmentosa syndrome	MT-ATP6	MT-ATP6	https://raresource.nih.gov/literature/disease/0000262	0000262	551500	644	C1328349	C537396	mitochondrially encoded ATP synthase membrane subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NARP syndrome"	34
Lowry-Wood syndrome	epiphyseal dysplasia, microcephalus, nystagmus syndrome//epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy//epiphyseal dysplasia-microcephaly-nystagmus syndrome//lws	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0000264	0000264	226960	1824	C0796021	C537038	RNA, U4atac small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lowry-Wood syndrome"	36
Keipert syndrome	keipert syndrome, x-linked recessive//kpts//nasodigitoacoustic syndrome//nasodigitoacoustic syndrome, formerly	GPC4	GPC4	https://raresource.nih.gov/literature/disease/0000267	0000267	301026	2662	C1850627	C538337	glypican 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keipert syndrome"	362
Oculootoradial syndrome	ivic//ivic (instituto venezolano de investigaciones cientificas) syndrome//ivic syndrome//radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	SALL4	SALL4	https://raresource.nih.gov/literature/disease/0000269	0000269	147750	2307	C1327918	C535544	spalt like transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculootoradial syndrome"	9
Nicolaides-Baraitser syndrome	intellectual disability-sparse hair-brachydactyly syndrome//ncbrs//smarca2-related bafopathy//smarca2-related nicolaides-baraitser syndrome	SMARCA2	SMARCA2	https://raresource.nih.gov/literature/disease/0000270	0000270	601358	3051	C1303073	C536116	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nicolaides-Baraitser syndrome"	1219
VACTERL with hydrocephalus	sujansky-leonard syndrome//vacterl-h	FANCB	FANCB	https://raresource.nih.gov/literature/disease/0000272	0000272	276950	3412	C1848599		FA complementation group B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=VACTERL with hydrocephalus"	300
Wrinkly skin syndrome	type of gerodermia osteodysplastica//wrinkled skin syndrome//wss//wss - wrinkly skin syndrome	ATP6V0A2	ATP6V0A2	https://raresource.nih.gov/literature/disease/0000273	0000273	278250	2834	C0406587	C536750	ATPase H+ transporting V0 subunit a2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wrinkly skin syndrome"	169
Hypogonadotropic hypogonadism 12 with or without anosmia	eunuchoidism, familial hypogonadotropic//familial hypogonadotrophic eunuchoidism//familial idiopathic gonadotrpin deficiency//gonadotropin deficiency familial idiopathic//hh12	GNRH1	GNRH1	https://raresource.nih.gov/literature/disease/0000276	0000276	614841		C1856897	C535764	gonadotropin releasing hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 12 with or without anosmia"	1
Lethal osteosclerotic bone dysplasia	osteomalacia, sclerosing, with cerebral calcification//osteosclerotic bone dysplasia, lethal//raine dysplasia//raine syndrome//rns	FAM20C	FAM20C	https://raresource.nih.gov/literature/disease/0000282	0000282	259775	1832	C1850106	C535282;C564916	FAM20C golgi associated secretory pathway kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal osteosclerotic bone dysplasia"	125
Hallermann-Streiff syndrome	franc'ois dyscephalic syndrome//francois dyscephalic syndrome//françois dyscephalic syndrome//hallerman - streiff syndrome//hallermann syndrome//hallermann's syndrome//hss//oculomandibulodyscephaly with hypotrichosis syndrome//oculomandibulofacial syndrome	CHD6	CHD6	https://raresource.nih.gov/literature/disease/0000288	0000288	234100	2108	C0018522	D006210	chromodomain helicase DNA binding protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hallermann-Streiff syndrome"	484
Kostmann syndrome	autosomal recessive severe congenital neutropenia type 3//infantile agranulocytosis//kostmann disease//neutropenia, severe congenital 3, autosomal recessive//scn3//severe congenital neutropenia type 3	HAX1	HAX1	https://raresource.nih.gov/literature/disease/0000302	0000302	610738	99749	C5235141	C537592	HCLS1 associated protein X-1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kostmann syndrome"	105
Blau syndrome	arthrocutaneouveal granulomatosis//blaus//early-onset sarcoidosis//eos//granulomatosis, familial juvenile systemic//granulomatosis, familial, blau type//granulomatous inflammatory arthritis, dermatitis, and uveitis, familial//jabs syndrome//paediatric granulomatous arthritis//pediatric granulomatous arthritis//sarcoidosis, early-onset	NOD2	NOD2	https://raresource.nih.gov/literature/disease/0000304	0000304	186580	90340	C5201146	C538157	nucleotide binding oligomerization domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blau syndrome"	1674
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	arthropathy camptodactyly syndrome//arthropathy-camptodactyly syndrome//cacp//cacp (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome//cacp syndrome//camptodactyly-arthropathy-pericarditis syndrome//congenital familial hypertrophic synovitis//familial fibrosing serositis//fibrosing serositis, familial//jacobs syndrome//pac syndrome//pericarditis arthropathy camptodactyly syndrome//pericarditis, arthropathy, camptodactyly syndrome//pericarditis-arthropathy-camptodactyly syndrome	PRG4	PRG4	https://raresource.nih.gov/literature/disease/0000306	0000306	208250	2848	C1859690	C537560	proteoglycan 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	75
CHIME syndrome	chime//chime (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome//coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome//coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome//coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome//congenital disorder of glycosylation due to pigl deficiency//glycosylphosphatidylinositol biosynthesis defect 5//neuroectodermal dysplasia chime type//neuroectodermal dysplasia, chime type//neuroectodermal syndrome, zunich type//pigl-cdg//zunich kaye syndrome//zunich-kaye syndrome	PIGL	PIGL	https://raresource.nih.gov/literature/disease/0000310	0000310	280000	3474	C1848392	C536729	phosphatidylinositol glycan anchor biosynthesis class L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHIME syndrome"	15
Saccharopinuria	hyperlysinemia type ii//hyperlysinemia, type ii//saccharopine dehydrogenase deficiency	AASS	AASS	https://raresource.nih.gov/literature/disease/0000314	0000314	268700	3124	C0268556	C537218	aminoadipate-semialdehyde synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Saccharopinuria"	19
Nail-patella-like renal disease	focal segmental glomerulosclerosis 10//glomerular basement membrane disease, nail-patella syndrome type//salcedo syndrome	LMX1B	LMX1B	https://raresource.nih.gov/literature/disease/0000321	0000321	256020	2613	C0403548	C537228	LIM homeobox transcription factor 1 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nail-patella-like renal disease"	6
Renal dysplasia and retinal aplasia	loken senior syndrome//nephronophthisis with retinal dystrophy//renal dysplasia-retinal aplasia syndrome//renal-retinal syndrome//senior-loken syndrome//slsn	NPHP1;CEP164;SDCCAG8;WDR19;INVS;TRAF3IP1;NPHP4;CEP290;NPHP3;IQCB1	NPHP1;CEP164;SDCCAG8;WDR19;INVS;TRAF3IP1;NPHP4;CEP290;NPHP3;IQCB1	https://raresource.nih.gov/literature/disease/0000322	0000322		3156	C0403553	C537580	nephrocystin 1; centrosomal protein 164; SHH signaling and ciliogenesis regulator SDCCAG8; WD repeat domain 19; inversin; TRAF3 interacting protein 1; nephrocystin 4; centrosomal protein 290; nephrocystin 3; IQ motif containing B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal dysplasia and retinal aplasia"	92
Neonatal pseudo-hydrocephalic progeroid syndrome	neonatal progeroid syndrome//wiedemann rautenstrauch syndrome//wiedemann-rautenstrauch syndrome	POLR3A	POLR3A	https://raresource.nih.gov/literature/disease/0000330	0000330	264090	3455	C0406586	C536423	RNA polymerase III subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal pseudo-hydrocephalic progeroid syndrome"	80
Yunis-Varon syndrome	cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia//cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia//cleidocranial dysplasia-micrognathia-absent thumbs syndrome//yunis-varón syndrome//yvs	FIG4	FIG4	https://raresource.nih.gov/literature/disease/0000331	0000331	216340	3472	C1857663	C536719	FIG4 phosphoinositide 5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Yunis-Varon syndrome"	52
Beare-Stevenson cutis gyrata syndrome	beare-stevenson syndrome//bstvs//cutis gyrata syndrome of beare and stevenson//cutis gyrata, acanthosis nigricans, craniosynostosis syndrome//cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0000332	0000332	123790	1555	C1852406	C565129	fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beare-Stevenson cutis gyrata syndrome"	45
Distichiasis-lymphedema syndrome	lymphedema with distichiasis//lymphedema-distichiasis syndrome	FOXC2	FOXC2	https://raresource.nih.gov/literature/disease/0000333	0000333	153400	33001	C0265345	C537710	forkhead box C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distichiasis-lymphedema syndrome"	69
Symmetrical dyschromatosis of extremities	acropigmentation of dohi//dsh//dsh1//dyschromatosis symmetrica hereditaria//dyschromatosis symmetrica hereditaria 1//rad//reticulate acropigmentation of dohi//symmetric dyschromatosis of the extremities	ADAR	ADAR	https://raresource.nih.gov/literature/disease/0000334	0000334	127400	41	C0406775	C535729	adenosine deaminase RNA specific	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symmetrical dyschromatosis of extremities"	897
Hereditary spastic paraplegia 23	autosomal recessive complex spastic paraplegia caused by mutation in dstyk//autosomal recessive spastic paraplegia type 23//dstyk autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 23//lison syndrome//spastic paraparesis, vitiligo, premature graying, characteristic facies//spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome//spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome//spastic paraplegia 23//spastic paraplegia with pigmentary abnormalities//spg23	DSTYK	DSTYK	https://raresource.nih.gov/literature/disease/0000336	0000336	270750	101003	C0796019	C536859	dual serine/threonine and tyrosine protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 23"	1694
Young syndrome	azoospermia, obstructive and chronic sinopulmonary infections//azoospermia, obstructive, and chronic sinopulmonary infections//azoospermia-sinopulmonary infections syndrome//barry-perkins-young syndrome//cild55//ciliary dyskinesia, primary, 55//sinusitis-infertility syndrome//young's syndrome	CFAP221	CFAP221	https://raresource.nih.gov/literature/disease/0000341	0000341	279000	3471	C0340037	C536718	cilia and flagella associated protein 221	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Young syndrome"	91
Pontocerebellar hypoplasia type 4	congenital pontocerebellar hypoplasia type 4//fatal infantile encephalopathy with olivopontocerebellar hypoplasia//olivopontocerebellar hypoplasia//pch4//pch4 - pontocerebellar hypoplasia type 4//tsen54-related pontocerebellar hypoplasia	TSEN54	TSEN54	https://raresource.nih.gov/literature/disease/0000343	0000343	225753	166063	C1856974	C536716	tRNA splicing endonuclease subunit 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 4"	18
Hoyeraal-Hreidarsson syndrome	cerebellar hypoplasia with pancytopenia//hhs//progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome	TERT;RTEL1;TINF2;DKC1;ACD;PARN	TERT;RTEL1;TINF2;DKC1;ACD;PARN	https://raresource.nih.gov/literature/disease/0000346	0000346		3322	C1846142	C536068	telomerase reverse transcriptase; regulator of telomere elongation helicase 1; TERF1 interacting nuclear factor 2; dyskerin pseudouridine synthase 1; ACD shelterin complex subunit and telomerase recruitment factor; poly(A)-specific ribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hoyeraal-Hreidarsson syndrome"	863
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	heart defects, congenital, and other congenital anomalies//pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease//pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome//yorifuji okuno syndrome//yorifuji-okuno syndrome	GATA6	GATA6	https://raresource.nih.gov/literature/disease/0000347	0000347	600001	2255	C2931296	C564011	GATA binding protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	None
Cranioectodermal dysplasia	ced//cranioectoderma//levin syndrome//sensenbrenner syndrome//sensenbrenner's syndrome	IFT52;IFT43;IFT122;WDR35;WDR19	IFT52;IFT43;IFT122;WDR35;WDR19	https://raresource.nih.gov/literature/disease/0000359	0000359		1515	C4551571		intraflagellar transport 52; intraflagellar transport 43; intraflagellar transport 122; WD repeat domain 35; WD repeat domain 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia"	2284
Abruzzo-Erickson syndrome	abers//charge like syndrome x-linked//charge-like syndrome//cleft palate with coloboma of eye and deafness syndrome//cleft palate-coloboma-deafness syndrome//cleft palate-coloboma-hearing loss syndrome	TBX22	TBX22	https://raresource.nih.gov/literature/disease/0000360	0000360	302905	921	C1844862	C535559	T-box transcription factor 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Abruzzo-Erickson syndrome"	6
Acatalasia	acatalasemia//acatalasemia, hungarian type//catalase deficiency//deficiency of catalase//takahara disease	CAT	CAT	https://raresource.nih.gov/literature/disease/0000363	0000363	614097	926	C0268419	D020642	catalase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acatalasia"	179
Aromatase deficiency	congenital estrogen deficiency//congenital oestrogen deficiency//increased aromatase activity//maternal virilization due to placental aromatase deficiency//pseudohermaphroditism, female, due to placental aromatase deficiency	CYP19A1	CYP19A1	https://raresource.nih.gov/literature/disease/0000365	0000365	613546	91	C1960539	C537436	cytochrome P450 family 19 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aromatase deficiency"	164
Laryngo-onycho-cutaneous syndrome	epidermolysis bullosa, junctional 2c, laryngoonychocutaneous//jeb2c//laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome//loc syndrome//logic syndrome//shabbir syndrome	LAMA3	LAMA3	https://raresource.nih.gov/literature/disease/0000368	0000368	245660	2407	C1328355	C537032	laminin subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laryngo-onycho-cutaneous syndrome"	1171
Choroideremia-deafness-obesity syndrome	ayazi syndrome//choroideremia deafness obesity//choroideremia, obesity, and congenital deafness//chromosome xq21 deletion syndrome//del(x)(q21)//monosomy xq21//xq21 deletion syndrome, x-linked recessive//xq21 microdeletion syndrome	POU3F4	POU3F4	https://raresource.nih.gov/literature/disease/0000369	0000369	303110	1435	C3551019	C537793	POU class 3 homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choroideremia-deafness-obesity syndrome"	None
Neurofibromatosis-Noonan syndrome	neurofibromatosis type 1 noonan syndrome//neurofibromatosis type 1-noonan syndrome//neurofibromatosis with noonan phenotype//nfns//nfns - neurofibromatosis noonan syndrome	NF1	NF1	https://raresource.nih.gov/literature/disease/0000372	0000372	601321	638	C2931482	C537393	neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis-Noonan syndrome"	64
Cleft lip/palate-ectodermal dysplasia syndrome	cleft lip and cleft palate with ectodermal dysplasia syndrome//cleft lip and palate with syndactyly and pili torti//cleft lip/palate-syndactyly-pili torti syndrome//clped1//ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly//ectodermal dysplasia, margarita island type//ectodermal dysplasia, type 4//margarita type of ectodermal dysplasia//syndactyly-ectodermal dysplasia-cleft/lip palate//zlotogora ogur syndrome//zlotogora syndrome//zlotogora zilberman tenenbaum syndrome//zlotogora-ogur syndrome//zlotogora-zilberman-tenenbaum syndrome	NECTIN1	NECTIN1	https://raresource.nih.gov/literature/disease/0000375	0000375	225060	3253	C2931488		nectin cell adhesion molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleft lip/palate-ectodermal dysplasia syndrome"	10
Acheiropodia	acheiropody//acheiropody, brazilian type//achp//agenesis of hands and feet//horn-kolb syndrome	LMBR1	LMBR1	https://raresource.nih.gov/literature/disease/0000376	0000376	200500	931	C0265559	C536014	limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acheiropodia"	23
Knobloch syndrome 1	kno1//knobloch syndrome type 1//knobloch syndrome type i//knobloch syndrome, type 1//knobloch-layer syndrome//retinal detachment-occipital encephalocele syndrome	COL18A1	COL18A1	https://raresource.nih.gov/literature/disease/0000380	0000380	267750		C4551775	C537209	collagen type XVIII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Knobloch syndrome 1"	3
Autosomal dominant osteopetrosis 2	albers schonberg osteopetrosis//albers-schonberg disease, autosomal dominant//albers-schonberg osteopetrosis//albers-schönberg osteopetrosis//autosomal dominant albers-schonberg disease//autosomal dominant osteopetrosis type 2//autosomal dominant osteopetrosis type ii//marble bones, autosomal dominant//opta2//osteopetroses//osteopetrosis autosomal dominant type 2//osteopetrosis, autosomal dominant type 2//osteosclerosis fragilis//osteosclerosis fragilis generalisata	CLCN7	CLCN7	https://raresource.nih.gov/literature/disease/0000383	0000383	166600	53	C3179239		chloride voltage-gated channel 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant osteopetrosis 2"	3997
ADULT syndrome	acro-dermato-ungual-lacrimal-tooth syndrome//acro-dermo-ungual-lacrimal-tooth syndrome (adult syndrome)//acrodermatounguallacrimaltooth syndrome//adult (acro-dermato-ungual-lacrimal-tooth) syndrome//pigment anomaly-ectrodactyly-hypodontia syndrome	TP63	TP63	https://raresource.nih.gov/literature/disease/0000384	0000384	103285	978	C1863204	C538052	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ADULT syndrome"	39
Zimmermann-Laband syndrome	gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome//laband syndrome//laband-zimmermann syndrome//zimmerman laband syndrome//zimmermann-laband syndrome type 1//zls	KCNH1;ATP6V1B2;KCNN3	KCNH1;ATP6V1B2;KCNN3	https://raresource.nih.gov/literature/disease/0000385	0000385		3473	C0796013	C536725	potassium voltage-gated channel subfamily H member 1; ATPase H+ transporting V1 subunit B2; potassium calcium-activated channel subfamily N member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zimmermann-Laband syndrome"	71
Tetraamelia-multiple malformations syndrome	tetra-amelia with multiple malformation syndrome//tetraamelia with multiple malformation syndrome//zimmer phocomelia	RSPO2;WNT3;TBX4	RSPO2;WNT3;TBX4	https://raresource.nih.gov/literature/disease/0000386	0000386		3301	C2931218	C536500	R-spondin 2; Wnt family member 3; T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetraamelia-multiple malformations syndrome"	1
Combined immunodeficiency due to ZAP70 deficiency	imd48//immunodeficiency 48//zeta-associated-protein 70 deficiency	ZAP70	ZAP70	https://raresource.nih.gov/literature/disease/0000387	0000387	269840	911	CN032501	C536722	zeta chain of T cell receptor associated protein kinase 70	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to ZAP70 deficiency"	12606
Worth disease	autosomal dominant endosteal hyperostosis//autosomal dominant osteosclerosis//autosomal dominant osteosclerosis, worth type//benign form of worth hyperostosis corticalis generalisata with torus platinus//endosteal hyperostosis, autosomal dominant//endosteal hyperostosis, worth type//hyperostosis corticalis generalisata, benign form of worth, with torus palatinus//hyperostosis, endosteal//osteosclerosis, autosomal dominant//ostéosclérose autosomique dominante type worth//worth syndrome//worth's syndrome	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0000390	0000390	144750	2790	C0432273		LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Worth disease"	19
46,XX testicular disorder of sex development	46,xx gonadal dysgenesis//46,xx testicular differences of sex development//46,xx testicular disorders of sex development//46,xx testicular dsd//de la chapelle syndrome//xx male syndrome//xx, male syndrome	SOX3;SOX9;NR5A1;SRY	SOX3;SOX9;NR5A1;SRY	https://raresource.nih.gov/literature/disease/0000399	0000399		393	C2936419	D058531	SRY-box transcription factor 3; SRY-box transcription factor 9; nuclear receptor subfamily 5 group A member 1; sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX testicular disorder of sex development"	95
GAPO syndrome	gapo (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome//growth delay-alopecia-pseudoanodontia-optic atrophy syndrome//growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome	ANTXR1	ANTXR1	https://raresource.nih.gov/literature/disease/0000400	0000400	230740	2067	C0406723	C535642	ANTXR cell adhesion molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GAPO syndrome"	67
Foveal hypoplasia-presenile cataract syndrome	foveal hypoplasia with presenile cataract syndrome//o'donnell pappas syndrome//o'donnell-pappas syndrome	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0000406	0000406		2253	C2931644	C537858	paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Foveal hypoplasia-presenile cataract syndrome"	None
Short stature due to growth hormone qualitative anomaly	biodefective growth hormone//kowarski syndrome//pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin	GH1	GH1	https://raresource.nih.gov/literature/disease/0000408	0000408	262650	629	C1849779	C537505	growth hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature due to growth hormone qualitative anomaly"	4
Hypoparathyroidism-retardation-dysmorphism syndrome	hrd syndrome//hrds//hypoparathyroidism with short stature, intellectual disability and seizures//hypoparathyroidism with short stature, mental retardation and seizures//hypoparathyroidism, intellectual disability, dysmorphism syndrome//hypoparathyroidism, short stature, intellectual disability, seizures syndrome//hypoparathyroidism-intellectual disability-dysmorphism syndrome//hypoparathyroidism-short stature-intellectual disability-seizures syndrome//richardson kirk syndrome//richardson-kirk syndrome//sanjad sakati syndrome//sanjad-sakati syndrome//sss//sss - sanjad sakati syndrome	TBCE	TBCE	https://raresource.nih.gov/literature/disease/0000411	0000411	241410	2323	C1855840	C537157	tubulin folding cofactor E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoparathyroidism-retardation-dysmorphism syndrome"	993
Geroderma osteodysplastica	geroderma osteodysplasticum//go//go - geroderma osteodysplastica//osteodysplastic geroderma//walt disney dwarfism	GORAB	GORAB	https://raresource.nih.gov/literature/disease/0000413	0000413	231070	2078	C0432255	C537799	golgin, RAB6 interacting	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geroderma osteodysplastica"	1850
Bamforth-Lazarus syndrome	athyroidal hypothyroidism with spiky hair and cleft palate//athyroidal hypothyroidism with spiky hair and cleft palate syndrome//athyroidal hypothyroidism-spiky hair-cleft palate syndrome//bamforth syndrome//hypothyroidism and cleft palate syndrome//hypothyroidism, athyroidal, with spiky hair and cleft palate//hypothyroidism-cleft palate syndrome	FOXE1	FOXE1	https://raresource.nih.gov/literature/disease/0000414	0000414	241850	1226	C1855794	C537901	forkhead box E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bamforth-Lazarus syndrome"	11
Essential pentosuria	essential benign pentosuria//l-xylulose reductase deficiency//l-xylulosuria//pentosuria//pntsu//xylitol dehydrogenase deficiency	DCXR	DCXR	https://raresource.nih.gov/literature/disease/0000418	0000418	260800	2843	C0268162	C536652	dicarbonyl and L-xylulose reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Essential pentosuria"	54
Mismatch repair cancer syndrome 1	brain tumor-polyposis syndrome 1//btp1 syndrome//childhood cancer syndrome//mismatch repair deficiency//mlh1-related constitutional mismatch repair deficiency syndrome//mmr deficiency//mmrcs1	MLH1	MLH1	https://raresource.nih.gov/literature/disease/0000420	0000420	276300		C5399763	C536928	mutL homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mismatch repair cancer syndrome 1"	1431
Tufted angioma of skin	angioblastoma//angioblastoma of nakagawa//hypertrophic hemangioma//nakagawa angioblastoma//progressive capillary hemangioma//tufted angioma//tufted angioma (disease)//tufted angioma of the skin//tufted hemangioma//tufted hemangioma of skin//tufted hemangioma of the skin//tufted skin angioma	GNA14	GNA14	https://raresource.nih.gov/literature/disease/0000425	0000425	607859	1063	C0346073	C536924	G protein subunit alpha 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tufted angioma of skin"	259
Microtia-Anotia	congenital microtias//m-a//microtia//microtia, congenital//microtias, congenital	HOXA2	HOXA2	https://raresource.nih.gov/literature/disease/0000431	0000431	600674	83463	C1833486	D065817	homeobox A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microtia-Anotia"	1554
Apparent mineralocorticoid excess	11 beta-hydroxysteroid dehydrogenase type 2 deficiency//11-beta-hydroxysteroid dehydrogenase deficiency type 2//ame//ame - apparent mineralocorticoid excess//ape//apparent mineralocorticoid excess syndrome//cortisol 11-beta-ketoreductase deficiency//syndrome of apparent mineralocorticoid excess//ulick syndrome	HSD11B2	HSD11B2	https://raresource.nih.gov/literature/disease/0000433	0000433	218030	320	C0342488	C537422;D043204	hydroxysteroid 11-beta dehydrogenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Apparent mineralocorticoid excess"	997
X-linked hydrocephalus syndrome	aqueductal stenosis, x-linked//bickers-adams syndrome//hsas//hycx//hydrocephalus due to aqueductal stenosis, x-linked recessive//hydrocephalus with congenital idiopathic intestinal pseudoobstruction, x-linked recessive//hydrocephalus with hirschsprung disease, x-linked recessive//hydrocephalus with stenosis of the aqueduct of sylvius//hydrocephalus, congenital, x-linked//x-linked acqueductal stenosis//x-linked hsas//x-linked hydrocephalus//x-linked hydrocephalus with stenosis of aqueduct of sylvius//x-linked hydrocephalus with stenosis of the aqueduct of sylvius	L1CAM	L1CAM	https://raresource.nih.gov/literature/disease/0000434	0000434	307000	2182	C0265216	C536078	L1 cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked hydrocephalus syndrome"	188
Autosomal recessive limb-girdle muscular dystrophy type 2D	adhalinopathy, primary//alpha-sarcoglycan-related lgmd r3//alpha-sarcoglycan-related limb-girdle muscular dystrophy r3//alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d)//autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca//dmda2//duchenne-like autosomal recessive muscular dystrophy type 2//duchenne-like autosomal recessive muscular dystrophy, type 2//lgmd due to alpha-sarcoglycan deficiency//lgmd type 2d//lgmd2d//lgmdr3//limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2d//muscular dystrophy, limb-girdle, autosomal recessive 3//muscular dystrophy, limb-girdle, type 2d//primary adhalinopathy//sgca autosomal recessive limb-girdle muscular dystrophy	SGCA	SGCA	https://raresource.nih.gov/literature/disease/0000438	0000438	608099	62	C2936332		sarcoglycan alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2D"	65
Vici syndrome	absent corpus callosum-cataract-immunodeficiency syndrome//corpus callosum agenesis-cataract-immunodeficiency syndrome//dionisi vici sabetta gambarara syndrome//dionisi-vici-sabetta-gambarara syndrome//immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum//vicis	EPG5	EPG5	https://raresource.nih.gov/literature/disease/0000448	0000448	242840	1493	C1855772	C535566	ectopic P-granules 5 autophagy tethering factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vici syndrome"	84
Glucocorticoid deficiency with achalasia	2a syndrome//3a syndrome//4a syndrome//aaa syndrome//aaas//achalasia-addisonian syndrome//achalasia-addisonianism-alacrima (triple-a) syndrome//achalasia-addisonianism-alacrima syndrome//achalasia-addisonianism-alacrimia syndrome//acth-resistant adrenal insufficiency, achalasia and alacrima//addisonian achalasia syndrome//adrenal insufficiency-achalasia-alacrima syndrome//alacrima-achalasia-addisonianism//alacrima-achalasia-adrenal insufficiency neurologic disorder//alacrimia-achalasia-addisonianism//allgrove syndrome//double a syndrome//glucocorticoid deficiency and achalasia//hypoadrenalism with achalasia//quaternary a syndrome//triple a syndrome//triple-a syndrome	AAAS	AAAS	https://raresource.nih.gov/literature/disease/0000457	0000457	231550	869	C0271742	C536008	aladin WD repeat nucleoporin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid deficiency with achalasia"	2380
Achondrogenesis, type IA	acg1a//achondrogenesis houston-harris type//achondrogenesis type 1a//achondrogenesis, houston-harris type	TRIP11	TRIP11	https://raresource.nih.gov/literature/disease/0000459	0000459	200600	93299	C0265273	C536015	thyroid hormone receptor interactor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achondrogenesis, type IA"	18
Achondrogenesis, type IB	acg1b//achondrogenesis fraccaro type//achondrogenesis ib//achondrogenesis type 1b//achondrogenesis, parenti-fraccaro type	SLC26A2	SLC26A2	https://raresource.nih.gov/literature/disease/0000460	0000460	600972	93298	C0265274		solute carrier family 26 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achondrogenesis, type IB"	27
Isovaleryl-CoA dehydrogenase deficiency	isovaleric acid coa dehydrogenase deficiency//isovaleric acid-coa dehydrogenase deficiency//isovaleric acidemia//isovaleric aciduria//isovalericacidemia//isovaleryl-coenzyme a dehydrogenase deficiency//iva//ivd deficiency//ivd-gene related isovaleryl-coenzyme a dehydrogenase deficiency	IVD	IVD	https://raresource.nih.gov/literature/disease/0000465	0000465	243500	33	C0268575	C538167	isovaleryl-CoA dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isovaleryl-CoA dehydrogenase deficiency"	534
Propionic acidemia	glycinemia, ketotic//hyperglycinemia with ketoacidosis and leukopenia//hyperglycinemia with ketosis and leukopenia//ketotic glycinemia//ketotic hyperglycinemia//ketotic ii glycinemia//pcc - propionyl-coa carboxylase deficiency//pcc deficiency//prop//propionic aciduria//propionyl-coa carboxylase deficiency	PCCB;PCCA	PCCB;PCCA	https://raresource.nih.gov/literature/disease/0000467	0000467	606054	35	C0268579	D056693	propionyl-CoA carboxylase subunit beta; propionyl-CoA carboxylase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Propionic acidemia"	791
Acrofacial dysostosis Rodriguez type	acrofacial dysostosis syndrome of rodriguez//acrofacial dysostosis, rodríguez type//acrofacial dysostosis, syndrome of rodriguez//rodriguez lethal acrofacial dysostosis syndrome	SF3B4	SF3B4	https://raresource.nih.gov/literature/disease/0000496	0000496	201170	1788	C1860119	C538183	splicing factor 3b subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrofacial dysostosis Rodriguez type"	3
Curry-Hall syndrome	acrofacial dysostosis weyers type//acrofacial dysostosis, weyers type//wad//weyers acrodental dysostosis//weyers acrofacial dysostosis	EVC2	EVC2	https://raresource.nih.gov/literature/disease/0000497	0000497	193530	952	C0457013	C536695	EvC ciliary complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Curry-Hall syndrome"	631
Nager syndrome	acrofacial dysostosis 1, nager type//afd1//mandibulofacial dysostosis with preaxial limb anomalies//mandibulofacial dysostosis, treacher collins type, with limb anomalies//nafd//nager acrofacial dysostosis//nager acrofacial dysostosis syndrome//preaxial acrodysostosis//preaxial acrofacial dysostosis	SF3B4	SF3B4	https://raresource.nih.gov/literature/disease/0000498	0000498	154400	245	C0265245	C538184	splicing factor 3b subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nager syndrome"	150
Spondylometaphyseal dysplasia, Schmidt type	smdalg//spondylometaphyseal dysplasia algerian type//spondylometaphyseal dysplasia with severe genu valgum//spondylometaphyseal dysplasia, algerian type	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0000504	0000504	184253	93316	C1866688	C535794	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia, Schmidt type"	1
Acromesomelic dysplasia 2C, Hunter-Thompson type	acromesomelic dysplasia hunter-thompson type//acromesomelic dysplasia, hunter-thompson type//hunter-thompson dysplasia	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0000506	0000506	201250	968	C2930970		growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromesomelic dysplasia 2C, Hunter-Thompson type"	2
Acromesomelic dysplasia 1, Maroteaux type	acromesomelic dysplasia 1//acromesomelic dysplasia maroteaux type//acromesomelic dysplasia, maroteaux type//amd1//st. helena dysplasia	NPR2	NPR2	https://raresource.nih.gov/literature/disease/0000507	0000507	602875	40	C1864356	C535661	natriuretic peptide receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromesomelic dysplasia 1, Maroteaux type"	23
Hajdu-Cheney syndrome	acrodentoosteodysplasia//acroosteolysis dominant type//acroosteolysis with osteoporosis and changes in skull and mandible//arthro-dento-osteo dysplasia//arthrodentoosteodysplasia//cheney syndrome//hajdu-cheney syndrome-notch2//hjcys//serpentine fibula polycystic kidney syndrome//serpentine fibula-polycystic kidney syndrome//serpentine fibula-polycystic kidneys syndrome	NOTCH2	NOTCH2	https://raresource.nih.gov/literature/disease/0000508	0000508	102500	955	C0917715	C535663;C537586;D031845	notch receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hajdu-Cheney syndrome"	196
Acute febrile neutrophilic dermatosis	afnd//febrile neutrophilic dermatosis//gomm button disease//sweet disease//sweet syndrome	MEFV	MEFV	https://raresource.nih.gov/literature/disease/0000521	0000521	608068	3243	C0085077	D016463	MEFV innate immunity regulator, pyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute febrile neutrophilic dermatosis"	1107
Acute lymphoid leukemia	acute lymphatic leukaemia//acute lymphatic leukemia//acute lymphoblastic leukaemia//acute lymphoblastic leukaemia (all)//acute lymphoblastic leukaemia (disease)//acute lymphoblastic leukemia//acute lymphoblastic leukemia (all)//acute lymphoblastic leukemia (disease)//acute lymphoblastic leukemia/lymphoma//acute lymphocytic leukaemia//acute lymphocytic leukemia//acute lymphocytic leukemias//acute lymphogenous leukaemia//acute lymphogenous leukemia//acute lymphoid leukaemia//acute lymphoid leukemia, disease//all//all - acute lymphoblastic leukemia//all - acute lymphocytic leukaemia//all - acute lymphocytic leukemia//familial acute lymphocytic leukemia//leukemia, acute lymphoblastic, somatic//leukemia, lymphoblastic, malignant//lymphoblastic leukemia//lymphoblastic leukemia, acute//precursor cell lymphoblastic leukaemia//precursor cell lymphoblastic leukemia//precursor lymphoblasic leukaemia//precursor lymphoblasic leukemia//precursor lymphoblastic leukaemia//precursor lymphoblastic leukemia	NUP214;FLT3;NBN;TAL1;TAL2;BCR;BAX;GNB1	NUP214;FLT3;NBN;TAL1;TAL2;BCR;BAX;GNB1	https://raresource.nih.gov/literature/disease/0000522	0000522	613065	513	C0023449		nucleoporin 214; fms related receptor tyrosine kinase 3; nibrin; TAL bHLH transcription factor 1, erythroid differentiation factor; TAL bHLH transcription factor 2; BCR activator of RhoGEF and GTPase; BCL2 associated X, apoptosis regulator; G protein subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute lymphoid leukemia"	69461
Acute myeloblastic leukemia without maturation	acute granulocytic leukaemia without maturation//acute granulocytic leukemia without maturation//acute m1 myeloid leukaemia//acute m1 myeloid leukemia//acute myeloblastic leukaemia m1//acute myeloblastic leukemia m1//acute myelocytic leukaemia without maturation//acute myelocytic leukemia without maturation//acute myelogenous leukaemia without maturation//acute myelogenous leukemia without maturation//acute myeloid leukaemia without maturation//acute myeloid leukaemia without maturation (fab m1)//acute myeloid leukemia without maturation//acute myeloid leukemia without maturation (fab m1)//acute myeloid leukemia without maturation, fab m1//aml m1//aml without maturation//fab m1//m1 - acute myeloblastic leukemia without maturation//m1 acute granulocytic leukaemia//m1 acute granulocytic leukaemia without maturation//m1 acute granulocytic leukemia//m1 acute granulocytic leukemia without maturation//m1 acute myeloblastic leukaemia//m1 acute myeloblastic leukaemia without maturation//m1 acute myeloblastic leukemia//m1 acute myeloblastic leukemia without maturation//m1 acute myelocytic leukaemia//m1 acute myelocytic leukaemia without maturation//m1 acute myelocytic leukemia//m1 acute myelocytic leukemia without maturation//m1 acute myelogenous leukaemia//m1 acute myelogenous leukaemia without maturation//m1 acute myelogenous leukemia//m1 acute myelogenous leukemia without maturation//m1 acute myeloid leukaemia//m1 acute myeloid leukaemia without maturation//m1 acute myeloid leukemia//m1 acute myeloid leukemia without maturation	NPM1;FLT3	NPM1;FLT3	https://raresource.nih.gov/literature/disease/0000526	0000526		98833	C0026998		nucleophosmin 1; fms related receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloblastic leukemia without maturation"	132
Acute myeloblastic leukemia with maturation	acute granulocytic leukemia with maturation//acute m2 myeloid leukaemia//acute m2 myeloid leukemia//acute myeloblastic leukaemia m2//acute myeloblastic leukemia m2//acute myelocytic leukaemia with maturation//acute myelocytic leukemia with maturation//acute myelogenous leukaemia with maturation//acute myelogenous leukemia with maturation//acute myeloid leukaemia (aml-m2)//acute myeloid leukaemia with maturation//acute myeloid leukemia (aml-m2)//acute myeloid leukemia with maturation//acute myeloid leukemia with maturation, fab m2//aml m2//aml with maturation//fab m2//m2 - acute myeloblastic leukemia with maturation//m2 acute granulocytic leukaemia//m2 acute granulocytic leukemia//m2 acute myeloblastic leukaemia//m2 acute myeloblastic leukaemia with maturation//m2 acute myeloblastic leukemia//m2 acute myeloblastic leukemia with maturation//m2 acute myelocytic leukaemia with maturation//m2 acute myelocytic leukemia with maturation//m2 acute myelogenous leukaemia//m2 acute myelogenous leukaemia with maturation//m2 acute myelogenous leukemia//m2 acute myelogenous leukemia with maturation//m2 acute myeloid leukaemia//m2 acute myeloid leukaemia with maturation//m2 acute myeloid leukemia//m2 acute myeloid leukemia with maturation	KIT;FLT3;NPM1	KIT;FLT3;NPM1	https://raresource.nih.gov/literature/disease/0000527	0000527		98834	C1879321		KIT proto-oncogene, receptor tyrosine kinase; fms related receptor tyrosine kinase 3; nucleophosmin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloblastic leukemia with maturation"	86
Acute promyelocytic leukemia	acute myeloblastic leukaemia 3//acute myeloblastic leukaemia type 3//acute myeloblastic leukemia 3//acute myeloblastic leukemia type 3//acute myeloid leukaemia m3//acute myeloid leukaemia with t(15;17)(q22;q12);(pml/raralpha) and variants//acute myeloid leukemia m3//acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants//acute promyelocytic leukaemia//acute promyelocytic leukaemia with pml-rara//acute promyelocytic leukaemia with t(15;17)(q22;q12); pml-rara//acute promyelocytic leukaemia with t(15;17)(q22;q12); pml/rara//acute promyelocytic leukemia (clinical)//acute promyelocytic leukemia with pml-rara//acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara//acute promyelocytic leukemia with t(15;17)(q22;q12); pml/rara//acute promyelocytic leukemia, fab m3//aml m3//aml with t(15;17)(q22;q12)//aml with t(15;17)(q22;q12);(pml/raralpha) and variants//apl//apl - acute promyelocytic leukemia//apml//apml - acute promyelocytic leukaemia//apml - acute promyelocytic leukemia//fab m3//leukemia, acute promyelocytic, somatic//m3 - acute promyelocytic leukemia//promyelocytic leukaemia//promyelocytic leukemia	RARA	RARA	https://raresource.nih.gov/literature/disease/0000538	0000538	612376	520	C0023487	D015473	retinoic acid receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute promyelocytic leukemia"	2083
Medium-chain acyl-coenzyme A dehydrogenase deficiency	acadm deficiency//acadmd//acyl-coa dehydrogenase, medium chain, deficiency of//acyl-coa dehydrogenase, medium-chain deficiency//carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency//mcad//mcad - medium chain acyl-coa dehydrogenase deficiency//mcad deficiency//mcadd//mcadh deficiency//medium chain acyl-coa dehydrogenase deficiency//medium-chain acyl-coa dehydrogenase deficiency	ACADM	ACADM	https://raresource.nih.gov/literature/disease/0000540	0000540	201450	42	C0220710	C536038	acyl-CoA dehydrogenase medium chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Medium-chain acyl-coenzyme A dehydrogenase deficiency"	715
Adenine phosphoribosyltransferase deficiency	2,8-dihydroxyadenine urolithiasis//2,8-dihydroxyadeninuria disease//aprt deficiency//aprtd//deficiency of adenine phosphoribosyltransferase//deficiency of amp pyrophorylase//nephrolithiasis, dha//urolithiasis, dha	APRT	APRT	https://raresource.nih.gov/literature/disease/0000546	0000546	614723	976	C0268120	C538228	adenine phosphoribosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenine phosphoribosyltransferase deficiency"	226
Adenosine monophosphate deaminase deficiency	amp deaminase deficiency//deficiency of adenosine monophosphate deaminase//deficiency of adenylic acid deaminase//deficiency of amp aminase//deficiency of amp deaminase//myoadenylate deaminase deficiency	AMPD3	AMPD3	https://raresource.nih.gov/literature/disease/0000547	0000547	612874	45	C2931781	C538234	adenosine monophosphate deaminase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenosine monophosphate deaminase deficiency"	137
Adenylosuccinate lyase deficiency	adenylosuccinase deficiency//adenylosuccinate deficiency//adsl deficiency//adsld//asase - adenylosuccinate lyase deficiency//deficiency of adenylosuccinate lyase//inborn (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity disorder//inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity//rare inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity//succinyladenosinuria//succinylpurinemic autism	ADSL	ADSL	https://raresource.nih.gov/literature/disease/0000550	0000550	103050	46	C0268126	C538235	adenylosuccinate lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenylosuccinate lyase deficiency"	119
Congenital adrenal hypoplasia, X-linked	adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism//adrenal hypoplasia, congenital, x-linked recessive//ahc//isolated x-linked adrenal hypoplasia congenita//x-linked adrenal hypoplasia congenita//x-linked ahc//x-linked congenital adrenal hypoplasia	NR0B1	NR0B1	https://raresource.nih.gov/literature/disease/0000555	0000555	300200	95702	C0342482		nuclear receptor subfamily 0 group B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital adrenal hypoplasia, X-linked"	722
Adrenal cortex carcinoma	acc//adenocarcinoma, adrenocortical, malignant//adrenal cortex adenocarcinoma//adrenal cortical adenocarcinoma//adrenal cortical carcinoma//adrenal cortical carcinoma (morphologic abnormality)//adrenal gland carinoma//adrenocortical carcinoma//adrenocortical carcinoma (disease)//carcinoma of adrenal cortex//carcinoma of the adrenal cortex//carcinoma, adrenocortical, malignant//cortical cell carcinoma	TERT;CTNNB1;CDKN2A;TP53;PRKAR1A;ZNRF3	TERT;CTNNB1;CDKN2A;TP53;PRKAR1A;ZNRF3	https://raresource.nih.gov/literature/disease/0000558	0000558		1501	C0206686	D018268	telomerase reverse transcriptase; catenin beta 1; cyclin dependent kinase inhibitor 2A; tumor protein p53; protein kinase cAMP-dependent type I regulatory subunit alpha; zinc and ring finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adrenal cortex carcinoma"	7409
Spinal muscular atrophy, type IV	adult spinal muscular atrophy//proximal spinal muscular atrophy type 4//sma type 4//sma type iv//sma-iv//sma4//spinal muscular atrophy of adults//spinal muscular atrophy, adult form//spinal muscular atrophy, proximal, adult, autosomal recessive//spinal muscular atrophy-4	SMN1	SMN1	https://raresource.nih.gov/literature/disease/0000564	0000564	271150	83420	C1838230	C563948	survival of motor neuron 1, telomeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy, type IV"	20
Aicardi Goutieres syndrome	ags//aicardi-goutières syndrome//cree encephalitis//encephalopathy with basal ganglia calcification//encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid//encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis	LSM11;RNASEH2C;RNASEH2A;RNASEH2B;SAMHD1;TREX1;RNU7-1;IFIH1;ADAR	LSM11;RNASEH2C;RNASEH2A;RNASEH2B;SAMHD1;TREX1;RNU7-1;IFIH1;ADAR	https://raresource.nih.gov/literature/disease/0000575	0000575		51	C0393591	C535607	LSM11, U7 small nuclear RNA associated; ribonuclease H2 subunit C; ribonuclease H2 subunit A; ribonuclease H2 subunit B; SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1; three prime repair exonuclease 1; RNA, U7 small nuclear 1; interferon induced with helicase C domain 1; adenosine deaminase RNA specific	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi Goutieres syndrome"	1344
Oculocutaneous albinism type 1B	albinism, oculocutaneous, type ib//albinism, yellow mutant type//amish albinism//oca1b//oculocutaneous albinism, amish type//platinum oculocutaneous albinism//xanthous albinism//yellow albinism//yellow mutant oculocutaneous albinism//yellow oculocutaneous albinism//yellow-type albinism	TYR	TYR	https://raresource.nih.gov/literature/disease/0000594	0000594	606952	79434	C1847024	C537729	tyrosinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 1B"	11
HNSHA due to aldolase A deficiency	aldolase a deficiency//glycogen storage disease due to aldolase a deficiency//glycogen storage disease type 12//glycogen storage disease type xii//glycogen storage disease xii//glycogenosis due to aldolase a deficiency//glycogenosis type 12//glycogenosis type xii//gsd due to aldolase a deficiency//gsd type 12//gsd type xii//gsd xii//gsd12//red cell aldolase deficiency	ALDOA	ALDOA	https://raresource.nih.gov/literature/disease/0000600	0000600	611881	57	C0272066	C562718	aldolase, fructose-bisphosphate A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HNSHA due to aldolase A deficiency"	16
Autosomal dominant palmoplantar keratoderma and congenital alopecia	autosomal dominant palmoplantar hyperkeratosis and congenital alopecia//keratoderma-hypotrichosis-leukonychia totalis syndrome//palmoplantar keratoderma and congenital alopecia 1//palmoplantar keratoderma and congenital alopecia stevanovic type//palmoplantar keratoderma and congenital alopecia type 1//palmoplantar keratoderma and congenital alopecia, stevanovic type//palmoplantar keratoderma with congenital alopecia//ppk-ca, stevanovic type//ppkca, stevanovic type	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0000604	0000604	104100	1010	C4304669		gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant palmoplantar keratoderma and congenital alopecia"	3
Alopecia - intellectual disability syndrome	alopecia and intellectual disability syndrome//alopecia-mental retardation syndrome//perniola krajewska carnevale syndrome//perniola-krajewska-carnevale syndrome	LSS;AHSG;ITGB6	LSS;AHSG;ITGB6	https://raresource.nih.gov/literature/disease/0000612	0000612		2850	C2931280		lanosterol synthase; alpha 2-HS glycoprotein; integrin subunit beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alopecia - intellectual disability syndrome"	10
Alopecia universalis congenita	alunc//atrichia, generalised//atrichia, generalized	HR	HR	https://raresource.nih.gov/literature/disease/0000614	0000614	203655	701	C1859877	C537055	HR lysine demethylase and nuclear receptor corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alopecia universalis congenita"	9
Oxoglutaricaciduria	alpha-ketoglutarate dehydrogenase deficiency//deficiency of alpha-ketoglutarate dehydrogenase//oxoglutarate dehydrogenase deficiency	OGDH	OGDH	https://raresource.nih.gov/literature/disease/0000617	0000617	203740	31	C2752074	C536582	oxoglutarate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oxoglutaricaciduria"	270
Alpha Thalassemia	alpha thalassaemia//alpha thalassemia spectrum//alpha thalassemia syndrome//thalassemia, alpha-//thalassemias, alpha-	HBA2;HBA1	HBA2;HBA1	https://raresource.nih.gov/literature/disease/0000621	0000621	604131	846	C0002312	D017085	hemoglobin subunit alpha 2; hemoglobin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha Thalassemia"	1702
Autosomal dominant Alport syndrome	alport syndrome 3, autosomal dominant//alport syndrome 3a, autosomal dominant//alport syndrome dominant type//alport syndrome, autosomal dominant//ats3a//col4a3 alport syndrome and thin basement membrane nephropathy//renal failure and sensorineural hearing loss	COL4A3	COL4A3	https://raresource.nih.gov/literature/disease/0000624	0000624	104200	88918	C5882663		collagen type IV alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Alport syndrome"	55
Autosomal recessive Alport syndrome	alport syndrome 2, autosomal recessive//alport syndrome, autosomal recessive//ats2//col4a4 alport syndrome and thin basement membrane nephropathy	COL4A4	COL4A4	https://raresource.nih.gov/literature/disease/0000625	0000625	203780	88919	C4746745		collagen type IV alpha 4 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Alport syndrome"	85
Leber congenital amaurosis	amaurosis congenita of leber//congenital retinal blindness//crb - congenital retinal blindness//lca//leber amaurosis//leber's amaurosis//leber's congenital amaurosis//leber's disease	TULP1;RPGRIP1;LCA5;IMPDH1;RDH12;USP45;CEP290;GUCY2D;LRAT;RPE65;RD3;CRX;IQCB1;AIPL1;KCNJ13;PCYT1A;SPATA7;CRB1;IFT140;NMNAT1;TUBB4B;GDF6	TULP1;RPGRIP1;LCA5;IMPDH1;RDH12;USP45;CEP290;GUCY2D;LRAT;RPE65;RD3;CRX;IQCB1;AIPL1;KCNJ13;PCYT1A;SPATA7;CRB1;IFT140;NMNAT1;TUBB4B;GDF6	https://raresource.nih.gov/literature/disease/0000634	0000634		65	C0339527	D057130	TUB like protein 1; RPGR interacting protein 1; lebercilin LCA5; inosine monophosphate dehydrogenase 1; retinol dehydrogenase 12; ubiquitin specific peptidase 45; centrosomal protein 290; guanylate cyclase 2D, retinal; lecithin retinol acyltransferase; retinoid isomerohydrolase RPE65; RD3 regulator of GUCY2D; cone-rod homeobox; IQ motif containing B1; AIP like 1 HSP90 co-chaperone; potassium inwardly rectifying channel subfamily J member 13; phosphate cytidylyltransferase 1A, choline; spermatogenesis associated 7; crumbs cell polarity complex component 1; intraflagellar transport 140; nicotinamide nucleotide adenylyltransferase 1; tubulin beta 4B class IVb; growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis"	1810
Leber congenital amaurosis 1	amaurosis congenita of leber i//congenital absence of the rods and cones//gucy2d leber congenital amaurosis//gucy2d-related leber congenital amaurosis//lca1//leber congenital amaurosis caused by mutation in gucy2d//leber congenital amaurosis type 1//leber's congenital tapetoretinal degeneration//leber's congenital tapetoretinal dysplasia//retinal blindness, congenital	GUCY2D	GUCY2D	https://raresource.nih.gov/literature/disease/0000635	0000635			C2931258		guanylate cyclase 2D, retinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 1"	29
Leber congenital amaurosis 2	amaurosis congenita of leber ii//lca2//leber congenital amaurosis caused by mutation in rpe65//leber congenital amaurosis type 2//rpe65 leber congenital amaurosis//rpe65-related leber congenital amaurosis	RPE65	RPE65	https://raresource.nih.gov/literature/disease/0000636	0000636	204100		C1859844	C536601	retinoid isomerohydrolase RPE65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 2"	45
Congenital amegakaryocytic thrombocytopenia 1	amegakaryocytic thrombocytopenia, congenital 1//camt1//congenital amegakaryocytic thrombocytopenic purpura//thrombocytopenia, congenital amegakaryocytic	MPL	MPL	https://raresource.nih.gov/literature/disease/0000640	0000640	604498		C5882667	C535982	MPL proto-oncogene, thrombopoietin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital amegakaryocytic thrombocytopenia 1"	429
Amelogenesis imperfecta type 1	amelogenesis imperfecta - hypoplastic//amelogenesis imperfecta, hypoplastic type//hypoplastic amelogenesis imperfecta	RELT;SP6;AMBN;ACP4;ENAM;LAMB3;ITGB6	RELT;SP6;AMBN;ACP4;ENAM;LAMB3;ITGB6	https://raresource.nih.gov/literature/disease/0000645	0000645		100031	C0399367		RELT TNF receptor; Sp6 transcription factor; ameloblastin; acid phosphatase 4; enamelin; laminin subunit beta 3; integrin subunit beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1"	65
Amelogenesis imperfecta type 1G	absent enamel, nephrocalcinosis and apparently normal calcium metabolism//ai1g//aigfs//amelogenesis imperfecta and gingival fibromatosis syndrome//amelogenesis imperfecta and nephrocalcinosis//amelogenesis imperfecta caused by mutation in fam20a//amelogenesis imperfecta hypoplastic type, ig//amelogenesis imperfecta hypoplastic with nephrocalcinosis//amelogenesis imperfecta nephrocalcinosis//amelogenesis imperfecta type ig//amelogenesis imperfecta, hypoplastic, and nephrocalcinosis//amelogenesis imperfecta, hypoplastic, with nephrocalcinosis//amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration//amelogenesis imperfecta, type ig//amelogenesis imperfecta, type ig (enamel-renal syndrome)//amelogenesis imperfecta-gingival hyperplasia syndrome//amelogenesis imperfecta-nephrocalcinosis syndrome//enamel renal syndrome//enamel-renal syndrome//enamel-renal-gingival syndrome//ers//fam20a amelogenesis imperfecta//generalized enamel hypoplasia and renal dysfunction//mcgibbon lubinsky syndrome	FAM20A	FAM20A	https://raresource.nih.gov/literature/disease/0000646	0000646	204690	1031	C2931783	C538241	FAM20A golgi associated secretory pathway pseudokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1G"	103
X-linked sideroblastic anemia with ataxia	anaemia sideroblastic and spinocerebellar ataxia//anemia sideroblastic and spinocerebellar ataxia//anemia, sideroblastic, with ataxia, x-linked recessive//asat//pagon-bird-detter syndrome//scax6//sideroblastic anaemia with spinocerebellar ataxia//sideroblastic anemia with spinocerebellar ataxia//spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemia//x-linked sideroblastic anaemia and ataxia//x-linked sideroblastic anaemia with spinocerebellar ataxia//x-linked sideroblastic anemia and ataxia//x-linked sideroblastic anemia and spinocerebellar ataxia//x-linked sideroblastic anemia with spinocerebellar ataxia//xlsa-a	ABCB7	ABCB7	https://raresource.nih.gov/literature/disease/0000668	0000668	301310	2802	C1845028	C536358	ATP binding cassette subfamily B member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked sideroblastic anemia with ataxia"	12
Angel-shaped phalango-epiphyseal dysplasia	asped//asped - angel-shaped phalango-epiphyseal dysplasia	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0000671	0000671	105835	63442	C1739384	C536361	growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angel-shaped phalango-epiphyseal dysplasia"	6
Ankyloblepharon filiforme adnatum-cleft palate syndrome	ankyloblepharon filiforme adnatum//ankyloblepharon filiforme adnatum and cleft palate//ankyloblepharon filiforme adnatum cleft palate//ankyloblepharon filiforme adnatum with cleft palate syndrome//ankyloblepharon filiforme congenitum//congenital filiform fusion of the eyelids with cleft palate and/or cleft lip	TP63	TP63	https://raresource.nih.gov/literature/disease/0000696	0000696	106250	1072	C1862866	C536373	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ankyloblepharon filiforme adnatum-cleft palate syndrome"	56
Matthew-Wood syndrome	anophthalmia with pulmonary hypoplasia syndrome//anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm//anophthalmia-pulmonary hypoplasia syndrome//anophthalmia/microphthalmia and pulmonary hypoplasia//mcops9//microphthalmia syndromic type 9//microphthalmia, syndromic type 9//pdac syndrome//pulmonary agenesis, microphthalmia, and diaphragmatic defect//pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome//spear syndrome//syndromic microphthalmia type 9	STRA6	STRA6	https://raresource.nih.gov/literature/disease/0000713	0000713	601186	2470	C1832661	C537768	signaling receptor and transporter of retinol STRA6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Matthew-Wood syndrome"	34
Microphthalmia with limb anomalies	anophthalmia-syndactyly//anophthalmia-syndactyly syndrome//anophthalmia-waardenburg syndrome//anophthalmos with limb anomalies//anophthalmos-limb anomalies syndrome//microphthalmia and limb anomalies//mla//oas//ophthalmo-acromelic syndrome//ophthalmoacromelic syndrome//syndactyly-anophthalmos syndrome//waardenburg anophthalmia syndrome	SMOC1	SMOC1	https://raresource.nih.gov/literature/disease/0000722	0000722	206920	1106	C0599973	C537769	SPARC related modular calcium binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia with limb anomalies"	589
Alpha-2-plasmin inhibitor deficiency	antiplasmin deficiency//antiplasmin defiency//congenital alpha2-antiplasmin deficiency//plasmin inhibitor deficiency	SERPINF2	SERPINF2	https://raresource.nih.gov/literature/disease/0000731	0000731	262850	79	C2752081	C537777	serpin family F member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-2-plasmin inhibitor deficiency"	75
Supravalvar aortic stenosis	supra-valvular aortic stenosis//supravalvar aortic stenosis, eisenberg type//supravalvular aortic stenosis//supravalvular aortic stenosis (disease)//svas//svas - supravalvar aortic stenosis	ELN	ELN	https://raresource.nih.gov/literature/disease/0000743	0000743	185500	3193	C0003499	D021921	elastin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Supravalvar aortic stenosis"	956
Familial apolipoprotein C-II deficiency	apoc2 deficiency//apolipoprotein c-ii deficiency//c-ii anapolipoproteinemia//familial apoc-ii deficiency//familial apoc2 deficiency//hyperlipoproteinemia, type ib	APOC2	APOC2	https://raresource.nih.gov/literature/disease/0000759	0000759	207750	309020	C1720779		apolipoprotein C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial apolipoprotein C-II deficiency"	41
Deficiency of aromatic-L-amino-acid decarboxylase	aadc deficiency//aromatic amino acid decarboxylase deficiency//aromatic l-amino acid decarboxylase deficiency//aromatic l-amino-acid decarboxylase deficiency//ddc deficiency//deficiency of dopa decarboxylase//deficiency of hydroxytryptophan decarboxylase//deficiency of tryptophan decarboxylase//dopa decarboxylase deficiency	DDC	DDC	https://raresource.nih.gov/literature/disease/0000770	0000770	608643	35708	C1291564	C537437	dopa decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of aromatic-L-amino-acid decarboxylase"	218
Arterial tortuosity syndrome	ators//ats	SLC2A10	SLC2A10	https://raresource.nih.gov/literature/disease/0000774	0000774	208050	3342	C1859726	C565942	solute carrier family 2 member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arterial tortuosity syndrome"	411
Digitotalar dysmorphism	arthrogryposis multiplex congenita distal type 1//da1//distal arthrogryposis type 1	TNNT3;MYBPC1;MYH3;TPM2;NALCN;TNNI2	TNNT3;MYBPC1;MYH3;TPM2;NALCN;TNNI2	https://raresource.nih.gov/literature/disease/0000787	0000787		1146	CN305314	C565097	troponin T3, fast skeletal type; myosin binding protein C1; myosin heavy chain 3; tropomyosin 2; sodium leak channel, non-selective; troponin I2, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Digitotalar dysmorphism"	28
Arthrogryposis multiplex congenita 2, neurogenic type	amc neurogenic type//amc, neurogenic type//amc2//amcn//arthrogryposis multiplex congenita neurogenic type//neurogenic arthrogryposis multiplex congenita	ERGIC1	ERGIC1	https://raresource.nih.gov/literature/disease/0000790	0000790	208100	1143	C5435650	C536614	endoplasmic reticulum-golgi intermediate compartment 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 2, neurogenic type"	11
Arthrogryposis with renal dysfunction and cholestasis syndrome	arc (arthrogryposis, renal dysfunction, cholestasis) syndrome//arc syndrome//arthrogryposis, renal dysfunction and cholestasis (arc) syndrome//arthrogryposis, renal dysfunction, and cholestasis//arthrogryposis-renal dysfunction-cholestasis//arthrogryposis-renal dysfunction-cholestasis syndrome	VPS33B;VIPAS39	VPS33B;VIPAS39	https://raresource.nih.gov/literature/disease/0000794	0000794		2697	C4551984	C535382	VPS33B late endosome and lysosome associated; VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis with renal dysfunction and cholestasis syndrome"	80
Orofacial-digital syndrome IV	baraitser burn syndrome//baraitser-burn syndrome//mohr majewski syndrome//mohr-majewski syndrome//ofd iv - orofacial-digital syndrome iv//ofd syndrome with tibial defects//ofd syndrome, baraitser-burn type//ofd4//ofds iv//oral-facial-digital syndrome type 4//oral-facial-digital syndrome, type iv//orofaciodigital syndrome iv//orofaciodigital syndrome type 4//orofaciodigital syndrome type iv	TCTN3	TCTN3	https://raresource.nih.gov/literature/disease/0000816	0000816	258860	2753	C0406727	C537133	tectonic family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial-digital syndrome IV"	16
Barber-Say syndrome	bbrsay//brown séquard syndrome//hypertrichosis, atrophic skin, ectropion, and macrostomia//hypertrichosis-atrophic skin-ectropion-macrostomia syndrome	TWIST2	TWIST2	https://raresource.nih.gov/literature/disease/0000819	0000819	209885	1231	C1319466	C537908	twist family bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Barber-Say syndrome"	349
Bardet-Biedl syndrome 1	bardet-biedl syndrome 1, modifier of//bardet-biedl syndrome type 1//bbs1	BBS1	BBS1	https://raresource.nih.gov/literature/disease/0000820	0000820	209900		C2936862	C537909	Bardet-Biedl syndrome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 1"	8
Bardet-Biedl syndrome 2	bardet-biedl syndrome caused by mutation in bbs2//bardet-biedl syndrome type 2//bbs2//bbs2 bardet-biedl syndrome	BBS2	BBS2	https://raresource.nih.gov/literature/disease/0000821	0000821	615981		C2936863	C537910	Bardet-Biedl syndrome 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 2"	3
Bardet-Biedl syndrome 3	bardet-biedl syndrome type 3//bbs3	ARL6	ARL6	https://raresource.nih.gov/literature/disease/0000822	0000822	600151		C1859564	C537911	ARF like GTPase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 3"	3
Bardet-Biedl syndrome 4	bardet-biedl syndrome type 4//bbs4	BBS4	BBS4	https://raresource.nih.gov/literature/disease/0000823	0000823	615982		C2936864	C537912	Bardet-Biedl syndrome 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 4"	1199
MHC class II deficiency	bare lymphocyte syndrome//bare lymphocyte syndrome 2//bare lymphocyte syndrome type 2//bare lymphocyte syndrome, type ii, complementation group a//bls 2//bls, type ii//hla class 2-negative scid//hla class 2-negative severe combined immunodeficiency//immunodeficiency by defective expression of hla class type 2//immunodeficiency by defective expression of mhc class ii//major histocompatibility complex class ii expression deficiency//mhc class ii expression deficiency//scid due to absent class ii hla antigens//scid, hla class 2-negative//scid, hla class ii-negative//severe combined immunodeficiency, hla class ii negative	RFX5;RFXAP;RFXANK;CIITA	RFX5;RFXAP;RFXANK;CIITA	https://raresource.nih.gov/literature/disease/0000824	0000824		572	C5447452	C537079	regulatory factor X5; regulatory factor X associated protein; regulatory factor X associated ankyrin containing protein; class II major histocompatibility complex transactivator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class II deficiency"	222
Frontometaphyseal dysplasia	fmd - frontometaphyseal dysplasia//fmd1	MAP3K7;FLNA	MAP3K7;FLNA	https://raresource.nih.gov/literature/disease/0000826	0000826		1826	C0265293	C538064	mitogen-activated protein kinase kinase kinase 7; filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontometaphyseal dysplasia"	79
Congenital myotonia, autosomal recessive form	autosomal recessive myotonia congenita//becker disease//becker generalized myotonia//becker myotonia congenita//myotonia congenita - autosomal recessive form//myotonia congenita, autosomal recessive//myotonia congenita, recessive	CLCN1	CLCN1	https://raresource.nih.gov/literature/disease/0000844	0000844	255700		C0751360		chloride voltage-gated channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myotonia, autosomal recessive form"	32
Abortive cerebellar ataxia	behr syndrome//behrs//optic atrophy, infantile hereditary, with neurologic abnormalities	OPA1	OPA1	https://raresource.nih.gov/literature/disease/0000849	0000849	210000	1239	C0221061	C537669	OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Abortive cerebellar ataxia"	24
Benign familial infantile epilepsy	benign familial infantile convulsion//benign familial infantile convulsions//benign familial infantile seizures//bfic//bfie//bfis//seizures, benign familial infantile//selfie - self-limited familial infantile epilepsy	KCNQ3;SCN2A;PRRT2;KCNQ2;SCN8A	KCNQ3;SCN2A;PRRT2;KCNQ2;SCN8A	https://raresource.nih.gov/literature/disease/0000857	0000857		306	C5575231		potassium voltage-gated channel subfamily Q member 3; sodium voltage-gated channel alpha subunit 2; proline rich transmembrane protein 2; potassium voltage-gated channel subfamily Q member 2; sodium voltage-gated channel alpha subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign familial infantile epilepsy"	142
Beta-D-mannosidosis	beta-mannosidase deficiency//beta-mannosidosis//lysosomal beta-mannosidase deficiency//mannosidosis, beta//mannosidosis, beta a, lysosomal//mansb	MANBA	MANBA	https://raresource.nih.gov/literature/disease/0000869	0000869	248510	118	C4048196	D044905	mannosidase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-D-mannosidosis"	100
Deficiency of acetyl-CoA acetyltransferase	2-methyl-3-hydroxybutyricacidemia//3-ketothiolase deficiency//3-methylhydroxybutyric acidemia//3-oxothiolase deficiency//acetoacetyl-coa thiolase deficiency//alpha methylacetoacetic aciduria//alpha-methyl-acetoacetyl-coa thiolase deficiency//alpha-methylacetoacetic aciduria//alpha-methylacetoaceticaciduria//beta-ketothiolase deficiency//bkt//deficiency of acetoacetyl-coa thiolase//deficiency of acetyl-coenzyme a acetyltransferase//ketothiolase deficiency//mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated//mitochondrial acetoacetyl-coa thiolase deficiency//mitochondrial acetoacetyl-coenzyme a thiolase deficiency//peroxisomal thiolase deficiency//t2 deficiency	ACAT1	ACAT1	https://raresource.nih.gov/literature/disease/0000872	0000872	203750	134	C1536500	C535434	acetyl-CoA acetyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of acetyl-CoA acetyltransferase"	155
Bethlem myopathy	benign autosomal dominant myopathy//benign congenital muscular dystrophy//bethlem myopathy type 1	COL6A3;COL6A2;COL6A1;COL12A1	COL6A3;COL6A2;COL6A1;COL12A1	https://raresource.nih.gov/literature/disease/0000873	0000873		610	C1834674	C535436	collagen type VI alpha 3 chain; collagen type VI alpha 2 chain; collagen type VI alpha 1 chain; collagen type XII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bethlem myopathy"	232
Biotinidase deficiency	biotin deficiency//btd deficiency//deficiency of biotinidase//juvenile-onset multiple carboxylase deficiency//late-onset biotin-responsive multiple carboxylase deficiency//late-onset multiple carboxylase deficiency//multiple carboxylase deficiency - late onset	BTD	BTD	https://raresource.nih.gov/literature/disease/0000894	0000894	253260	79241	C0220754	D028921	biotinidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Biotinidase deficiency"	2027
Chondrodysplasia Blomstrand type	blc//blomstrand chondrodysplasia//blomstrand lethal chondrodysplasia//blomstrand osteochondrodysplasia//blomstrand type chondrodysplasia//bocd	PTH1R	PTH1R	https://raresource.nih.gov/literature/disease/0000914	0000914	215045	50945	C1859148	C537914	parathyroid hormone 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrodysplasia Blomstrand type"	76
Bloom syndrome	blm//bloom-torre-machacek syndrome//bs - bloom syndrome//bsyn//congenital telangiectatic erythema syndrome	BLM	BLM	https://raresource.nih.gov/literature/disease/0000915	0000915	210900	125	C0005859	D001816	BLM RecQ like helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bloom syndrome"	390
Cone monochromatism	atypical x-linked achromatopsia//bcm//blue cone monochromacy//blue cone monochromacy, x-linked recessive//blue cone monochromatism//blue-mono-cone-monochromatic type colorblindness//color blindness blue mono cone monochromatic type//color blindness, blue monocone monochromatic type//colour blindness, blue monocone monochromatic type//incomplete achromatopsia//s cone monochromacy//s cone monochromatism//s-cone monochromacy//x-chromosome-linked achromatopsia//x-linked incomplete achromatopsia	OPN1LW;OPN1MW	OPN1LW;OPN1MW	https://raresource.nih.gov/literature/disease/0000917	0000917	303700	16	C0339537	C536238	opsin 1, long wave sensitive; opsin 1, medium wave sensitive	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone monochromatism"	170
Boomerang dysplasia		FLNB	FLNB	https://raresource.nih.gov/literature/disease/0000933	0000933	112310	1263	C0432201	C536573	filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Boomerang dysplasia"	26
Borjeson-Forssman-Lehmann syndrome	bfls//borj//borjeson syndrome//borjeson-forssman-lehmann syndrome, x-linked recessive//börjeson-forssman-lehman syndrome//intellectual deficiency-epilepsy-endocrine disorders syndrome//intellectual disability, epilepsy, and endocrine disorder//intellectual disability-epilepsy-endocrine disorders syndrome//mental retardation, epilepsy, and endocrine disorder//mental retardation, epilepsy, and endocrine disorders//mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type//mrxsbfl//syndromic x-linked intellectual disability borjeson-forssman-lehmann type//syndromic x-linked mental retardation borjeson-forssman-lehmann type	PHF6	PHF6	https://raresource.nih.gov/literature/disease/0000936	0000936	301900	127	C0265339	C536575	PHD finger protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Borjeson-Forssman-Lehmann syndrome"	54
Ataxia-hypogonadism-choroidal dystrophy syndrome	bnhs//boucher neuhäuser syndrome//boucher-neuhauser syndrome//boucher-neuhchäuser syndrome//boucher-neuhäuser syndrome//cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome//chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism//spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0000944	0000944	215470	1180	C1859093	C565850	patatin like domain 6, lysophospholipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-hypogonadism-choroidal dystrophy syndrome"	43
Elsahy-Waters syndrome	brachioskeletogenital syndrome//branchio-skeleto-genital syndrome//branchioskeletogenital syndrome//bsg syndrome//esws//hypospadias, hypertelorism, upper 51d coloboma, and mixed-type hearing loss//hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss//hypospadias-hypertelorism-coloboma and deafness syndrome	CDH11	CDH11	https://raresource.nih.gov/literature/disease/0000955	0000955	211380	1299	C0809936	C537084;C566373	cadherin 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Elsahy-Waters syndrome"	14
Teebi hypertelorism syndrome 1	brachycephalofrontonasal dysplasia//craniofrontonasal dysplasia, teebi type//specc1l-related hypertelorism syndrome//teebi hypertelorism syndrome	SPECC1L	SPECC1L	https://raresource.nih.gov/literature/disease/0000957	0000957	145420	1519	CN306405		sperm antigen with calponin homology and coiled-coil domains 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Teebi hypertelorism syndrome 1"	14
Fine-Lubinsky syndrome	aymé-gripp syndrome//brachycephaly, deafness, cataract, intellectual disability syndrome//brachycephaly, deafness, cataract, microstomia, and impaired intellectual development//brachycephaly-deafness-cataract-intellectual disability syndrome//brachycephaly-hearing loss-cataract-intellectual disability syndrome	MAF	MAF	https://raresource.nih.gov/literature/disease/0000958	0000958		1272	C0795941	C537933	MAF bZIP transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fine-Lubinsky syndrome"	22
Brachydactyly-elbow wrist dysplasia syndrome	brachydactyly elbow wrist dysplasia//brachydactyly with joint dysplasia//brachydactyly-joint dysplasia syndrome//liebenberg syndrome//synostosis, carpal, with dysplastic elbow joints and brachydactyly	MACROH2A1;PITX1	MACROH2A1;PITX1	https://raresource.nih.gov/literature/disease/0000966	0000966	186550	1275	C1861313	C566090	macroH2A.1 histone; paired like homeodomain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly-elbow wrist dysplasia syndrome"	2530
Brachydactyly-arterial hypertension syndrome	bilginturan brachydactyly//bilginturan syndrome//brachydactyly and arterial hypertension syndrome//brachydactyly type e with short stature and hypertension//brachydactyly type e, with short stature and hypertension	PDE3A	PDE3A	https://raresource.nih.gov/literature/disease/0000967	0000967	112410	1276	C1862170	C537095	phosphodiesterase 3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly-arterial hypertension syndrome"	4
Brachydactyly type A1	bda1//brachydactyly farabee type//brachydactyly, farabee type//farabee type brachydactyly//farabee-type brachydactyly//short stature with nonspecific skeletal abnormalities 2//type a1 brachydactyly	IHH	IHH	https://raresource.nih.gov/literature/disease/0000978	0000978	112500	93388	C1862151	C537088	Indian hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type A1"	51
Type A2 brachydactyly	bda2//brachydactyly mohr wriedt type//brachydactyly type a2//brachydactyly, mohr-wriedt type//brachymesophalangy ii//brachymesophalangy type 2//mohr-wriedt type brachydactyly//short index fingers and second toes	BMPR1B;GDF5;BMP2	BMPR1B;GDF5;BMP2	https://raresource.nih.gov/literature/disease/0000979	0000979	112600	93396	C1832702	C537089	bone morphogenetic protein receptor type 1B; growth differentiation factor 5; bone morphogenetic protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Type A2 brachydactyly"	17
Brachydactyly type C	bdc//type c brachydactyly	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0000986	0000986	113100	93384	C1862103	C537093	growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type C"	170
Brachydactyly type E	type e brachydactyly	HOXD13;PTHLH	HOXD13;PTHLH	https://raresource.nih.gov/literature/disease/0000987	0000987		93387	C4315392		homeobox D13; parathyroid hormone like hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type E"	669
Spondyloepimetaphyseal dysplasia, Maroteaux type	pseudo-morquio syndrome type 2//pseudo-morquio syndrome, type 2//sed, maroteaux type//sedm//spondyloepiphyseal dysplasia maroteaux type//spondyloepiphyseal dysplasia, maroteaux type	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0000994	0000994	184095	263482	C3159322		transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Maroteaux type"	8
Brittle cornea syndrome	brittle cornea syndrome type 1//kyphoscoliosis type//type vib ehlers-danlos syndrome	ZNF469;PRDM5	ZNF469;PRDM5	https://raresource.nih.gov/literature/disease/0001019	0001019		90354	CN263128		zinc finger protein 469; PR/SET domain 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brittle cornea syndrome"	78
Bruck syndrome	osteogenesis imperfecta with congenital joint contractures//osteogenesis imperfecta-congenital joint contractures syndrome	PLOD2;FKBP10	PLOD2;FKBP10	https://raresource.nih.gov/literature/disease/0001029	0001029		2771	C0432253		procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; FKBP prolyl isomerase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bruck syndrome"	29273
Brugada syndrome	bangungut//brugada type idiopathic ventricular fibrillation//dream disease//idiopathic ventricular fibrillation, brugada type//pokkuri death syndrome//right bundle branch block, st segment elevation, and sudden death syndrome//sudden unexpected nocturnal death syndrome//sudden unexplained death syndrome//sudden unexplained nocturnal death syndrome//sudden unexplained nocturnal death syndrome (sunds)//sunds	SCN2B;SCN5A;CACNA1C;SEMA3A;SCNN1A;SLMAP	SCN2B;SCN5A;CACNA1C;SEMA3A;SCNN1A;SLMAP	https://raresource.nih.gov/literature/disease/0001030	0001030		130	C1142166	D053840	sodium voltage-gated channel beta subunit 2; sodium voltage-gated channel alpha subunit 5; calcium voltage-gated channel subunit alpha1 C; semaphorin 3A; sodium channel epithelial 1 subunit alpha; sarcolemma associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome"	4143
X-linked agammaglobulinemia	agammaglobulinemia, bruton tyrosine kinase//agammaglobulinemia, btk//agammaglobulinemia, x-linked 1, x-linked recessive//agammaglobulinemia, x-linked, type 1//bruton agammaglobulinemia tyrosine kinase deficiency//bruton type agammaglobulinemia//bruton tyrosine kinase deficiency//bruton's agammaglobulinaemia//bruton's agammaglobulinemia//bruton's hypogammaglobulinemia//bruton's sex-linked agammaglobulinemia//bruton's type agammaglobulinemia//bruton's x-linked agammaglobulinemia//bruton-type agammaglobulinemia//btk deficiency//btk-deficiency//immunodeficiency 1//xla//xla - x-linked agammaglobulinemia	BTK	BTK	https://raresource.nih.gov/literature/disease/0001033	0001033	300755	47	C0221026	C537409	Bruton tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked agammaglobulinemia"	1244
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1//cadasil//cadasil 1//cadasil syndrome//cadasil type 1//cadasil1//casil//cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1//cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy//dementia, hereditary multi-infarct type//hereditary multi-infarct dementia	NOTCH3	NOTCH3	https://raresource.nih.gov/literature/disease/0001049	0001049	125310	136	C4551768	D046589	notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	1572
Infantile cortical hyperostosis	caffey disease//caffey syndrome//caffey's disease//cortical congenital hyperostosis//familial infantile cortical hyperostosis//hyperostosis, cortical, congenital//p1pk blood group system, p(2) phenotype	COL1A1	COL1A1	https://raresource.nih.gov/literature/disease/0001051	0001051	114000	1310	C0020497	D006958	collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile cortical hyperostosis"	365
Autosomal recessive limb-girdle muscular dystrophy type 2A	autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3//calpain-3 deficiency limb girdle muscular dystrophy type 2a//calpain-3-related lgmd r1//calpain-3-related limb-girdle muscular dystrophy r1//calpainopathy//capn3 autosomal recessive limb-girdle muscular dystrophy//leyden-moebius muscular dystrophy//leyden-möbius muscular dystrophy//lgmd type 2a//lgmd2a//lgmdr1//limb-girdle muscular dystrophy due to calpain deficiency//limb-girdle muscular dystrophy type 2a//limb-girdle muscular dystrophy, type 2a//muscular dystrophy, limb-girdle, autosomal recessive 1//muscular dystrophy, limb-girdle, type 2a//muscular dystrophy, limb-girdle, type 2a, amish//muscular dystrophy, pelvofemoral//pelvofemoral muscular dystrophy//primary calpainopathy	CAPN3	CAPN3	https://raresource.nih.gov/literature/disease/0001057	0001057	253600	267	C1869123	C535895	calpain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2A"	342
Camurati-Engelmann disease	camurati-engelmann disease 1//camurati-engelmann syndrome//camurati-englemann disease//diaphyseal dysplasia//diaphyseal dysplasia 1, progressive//engelman's disease//progressive diaphyseal dysplasia	TGFB1	TGFB1	https://raresource.nih.gov/literature/disease/0001072	0001072	131300	1328	CN379925		transforming growth factor beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camurati-Engelmann disease"	284
Chronic mucocutaneous candidiasis	candf//chronic candidiasis of mucosa, skin and nails//chronic mucocutaneous candidiasis (disease)//cmc//cmc - chronic mucocutaneous candidiasis//familial candidiasis//familial cmc//mucocutaneous candidiasis	CLEC7A;IL17RA;IL17F;IL17RC;TRAF3IP2	CLEC7A;IL17RA;IL17F;IL17RC;TRAF3IP2	https://raresource.nih.gov/literature/disease/0001077	0001077		1334	C0006845	D002178	C-type lectin domain containing 7A; interleukin 17 receptor A; interleukin 17F; interleukin 17 receptor C; TRAF3 interacting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic mucocutaneous candidiasis"	1465
Progressive familial heart block, type 1A	cardiac conduction defect progressive//heart block progressive familial type 1//heart block, progressive familial, type i//heart block, progressive, type ia//hereditary bundle branch system defect//lenegre syndrome//lenegre's disease//lenegre-lev syndrome//lev syndrome//lev's disease//lev's syndrome//lev-lenègre disease//pfhb1a//progressive cardiac conduction defect//progressive familial heart block caused by mutation in scn5a//progressive familial heart block, type ia//scn5a progressive familial heart block	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0001093	0001093			C1879286	D002037	sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial heart block, type 1A"	44
Cardiac valvular dysplasia, X-linked	congenital valvular dysplasia//cvd1//cvdpx//filamin a-related x-linked myxomatous valvular dysplasia//flna-related valvular dystrophy//flna-related x-linked cardiac valvular dysplasia//flna-related x-linked myxomatous valvular dysplasia//myxomatous valvular dystrophy, x-linked//valvular heart disease, congenital//xmvd	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0001096	0001096		555877	C0262436	C535576	filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac valvular dysplasia, X-linked"	4
Noonan syndrome with multiple lentigines	capute-rimoin-konigsmark-esterly-richardson syndrome//cardiomyopathic lentiginosis//familial multiple lentigines syndrome//generalised lentiginosis//generalized lentiginosis//gorlin syndrome ii//lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded growth, deafness//lentiginosis profusa syndrome//leopard syndrome//leopard syndrome lentiginosis//multiple lentigines syndrome//nsml//progressive cardiomyopathic lentiginosis	BRAF;RAF1;PTPN11	BRAF;RAF1;PTPN11	https://raresource.nih.gov/literature/disease/0001100	0001100		500	C0175704	D044542	B-Raf proto-oncogene, serine/threonine kinase; Raf-1 proto-oncogene, serine/threonine kinase; protein tyrosine phosphatase non-receptor type 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome with multiple lentigines"	429
3MC syndrome	craniofacial ulnar renal syndrome//craniofacial-ulnar-renal syndrome//malpuech-michels-mingarelli-carnevale syndrome//oculopalatoskeletal syndrome	COLEC11;COLEC10;MASP1	COLEC11;COLEC10;MASP1	https://raresource.nih.gov/literature/disease/0001118	0001118		293843	C4303860		collectin subfamily member 11; collectin subfamily member 10; MBL associated serine protease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3MC syndrome"	28
Carney complex	atrial myxoma with lentigines//carney syndrome//carney's syndrome//cnc//lamb//lamb (lentigines, atrial myxoma, blue nevi) syndrome//lamb syndrome//lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome//myxoma, spotty pigmentation, and endocrine overactivity//myxoma, spotty pigmentation, endocrine overactivity syndrome//myxoma-spotty pigmentation-endocrine overactivity syndrome//name syndrome//nevi, atrial myxoma, skin myxoma, ephelides syndrome	PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0001119	0001119		1359	C0406810	D056733	protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carney complex"	16903
Carnitine palmitoyl transferase 1A deficiency	carnitine palmitoyl transferase ia deficiency//carnitine palmitoyltransferase deficiency type 1//carnitine palmitoyltransferase i deficiency//carnitine palmitoyltransferase ia deficiency//carnitine palmitoyltransferase type i deficiency//cpt deficiency, hepatic, type i//cpt deficiency, hepatic, type ia//cpt i deficiency//cpt1 - carnitine palmitoyltransferase i deficiency//cpt1a deficiency//cpt1a disorder of carnitine cycle and carnitine transport//cpti - carnitine palmitoyltransferase deficiency type i//disorder of carnitine cycle and carnitine transport caused by mutation in cpt1a//hepatic carnitine palmitoyl transferase 1 deficiency//hepatic carnitine palmitoyl transferase i deficiency//hepatic cpt deficiency type i//l-cpt1 deficiency//l-cpti deficiency//liver form of carnitine palmitoyltransferase deficiency	CPT1A	CPT1A	https://raresource.nih.gov/literature/disease/0001120	0001120	255120	156	C1829703	C535588	carnitine palmitoyltransferase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine palmitoyl transferase 1A deficiency"	16286
Carnitine acylcarnitine translocase deficiency	cact deficiency//cactd	SLC25A20	SLC25A20	https://raresource.nih.gov/literature/disease/0001123	0001123	212138	159	C0342791	C562812	solute carrier family 25 member 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine acylcarnitine translocase deficiency"	937
X-linked intellectual disability, Stocco dos Santos type	intellectual developmental disorder, x-linked syndromic, stocco dos santos type//mental retardation, stocco dos santos type//sdsx//stocco dos santos syndrome//stocco dos santos x-linked mental retardation syndrome	SHROOM4	SHROOM4	https://raresource.nih.gov/literature/disease/0001133	0001133	300434	85288	C1845530	C537495	shroom family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Stocco dos Santos type"	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia	autosomal recessive palmoplantar hyperkeratosis and congenital alopecia//cataract-alopecia-sclerodactyly syndrome//palmoplantar keratoderma and congenital alopecia 2//palmoplantar keratoderma and congenital alopecia type 2//palmoplantar keratoderma and congenital alopecia, wallis type//ppk-ca, wallis type//ppkca, wallis type	LSS	LSS	https://raresource.nih.gov/literature/disease/0001139	0001139	212360	1366	C1859316	C535336	lanosterol synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive palmoplantar keratoderma and congenital alopecia"	435
Early-onset anterior polar cataract	anterior polar cataract//early-onset anterior subcapsular cataract//polar cataract, anterior	CRYBB3;CRYBA2;CRYGB;CRYAA	CRYBB3;CRYBA2;CRYGB;CRYAA	https://raresource.nih.gov/literature/disease/0001140	0001140		98988	C1855179		crystallin beta B3; crystallin beta A2; crystallin gamma B; crystallin alpha A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset anterior polar cataract"	58
Sengers syndrome	cardiomyopathy and cataract//congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome//congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome//mitochondrial dna depletion syndrome 10//mitochondrial dna depletion syndrome 10 (cardiomyopathic type)	AGK	AGK	https://raresource.nih.gov/literature/disease/0001142	0001142	212350	1369	C1859317	C538280	acylglycerol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sengers syndrome"	46
Cataract 4 multiple types	cataract (disease) caused by mutation in crygd//cataract 4 multiple types with or without microcornea//cataract 4 with microcornea//cataract 4, aculeiform//cataract 4, central nuclear//cataract 4, crystalline//cataract 4, multiple types, with or without microcornea//cataract 4, nonnuclear polymorphic congenital//cataract 4, punctate//crygd cataract (disease)//ctrct4	CRYGD	CRYGD	https://raresource.nih.gov/literature/disease/0001144	0001144	115700		C3540850		crystallin gamma D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 4 multiple types"	74
Cataract 46 juvenile-onset	cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy//cataracts, autosomal recessive//ctrct46//early-onset non-syndromic cataract caused by mutation in lemd2//juvenilae cataract hutterite type//lemd2 early-onset non-syndromic cataract	LEMD2	LEMD2	https://raresource.nih.gov/literature/disease/0001150	0001150	212500		C0220721	C538286	LEM domain nuclear envelope protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 46 juvenile-onset"	None
Cataract - microcornea syndrome	ccmc//congenital cataract-microcornea syndrome	CRYGC;CRYAA;GJA8;MAF;CRYBB1;CRYBA4;CRYBB2;CRYGD	CRYGC;CRYAA;GJA8;MAF;CRYBB1;CRYBA4;CRYBB2;CRYGD	https://raresource.nih.gov/literature/disease/0001155	0001155		1377	CN293942	C538287	crystallin gamma C; crystallin alpha A; gap junction protein alpha 8; MAF bZIP transcription factor; crystallin beta B1; crystallin beta A4; crystallin beta B2; crystallin gamma D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract - microcornea syndrome"	19
Congenital total cataract	cataract, total congenital with posterior sutural opacities in heterozygotes//congenital complete cataract//total early-onset cataract	DNMBP;EPHA2;PGRMC1;GCNT2;CRYAA;LEMD2;FYCO1;MIP;GJA8;LSS;CRYGB;LIM2;SIPA1L3;HSF4;CRYBB2;AGK	DNMBP;EPHA2;PGRMC1;GCNT2;CRYAA;LEMD2;FYCO1;MIP;GJA8;LSS;CRYGB;LIM2;SIPA1L3;HSF4;CRYBB2;AGK	https://raresource.nih.gov/literature/disease/0001159	0001159		98994	C0266539		dynamin binding protein; EPH receptor A2; progesterone receptor membrane component 1; glucosaminyl (N-acetyl) transferase 2 (I blood group); crystallin alpha A; LEM domain nuclear envelope protein 2; FYVE and coiled-coil domain autophagy adaptor 1; major intrinsic protein of lens fiber; gap junction protein alpha 8; lanosterol synthase; crystallin gamma B; lens intrinsic membrane protein 2; signal induced proliferation associated 1 like 3; heat shock transcription factor 4; crystallin beta B2; acylglycerol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital total cataract"	3
Cataract-glaucoma syndrome	cataract - glaucoma//cataract-glaucoma	PITX3	PITX3	https://raresource.nih.gov/literature/disease/0001160	0001160		162	C4305131		paired like homeodomain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract-glaucoma syndrome"	22
Caudal duplication	dipygus//split notochord syndrome	AXIN1	AXIN1	https://raresource.nih.gov/literature/disease/0001164	0001164	607864	1756	C1842884	C564315	axin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Caudal duplication"	114
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	capos//capos (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome//capos syndrome//cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss//cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss//cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome	ATP1A3	ATP1A3	https://raresource.nih.gov/literature/disease/0001188	0001188	601338	1171	C1832466	C535351	ATPase Na+/K+ transporting subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	55
Autosomal recessive progressive external ophthalmoplegia	arpeo//arpeo- autosomal recessive progressive external ophthalmoplegia//progressive external ophthalmoplegia, autosomal recessive	TK2;POLG	TK2;POLG	https://raresource.nih.gov/literature/disease/0001191	0001191		254886	C1850303	C564926	thymidine kinase 2; DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive progressive external ophthalmoplegia"	13
Autosomal recessive spinocerebellar ataxia 2	autosomal recessive cerebelloparenchymal disorder type 3//autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca//autosomal recessive spinocerebellar ataxia type 2//cerebellar granular cell hypoplasia and mental retardation, congenital//cerebellar hypoplasia, nonprogressive norman type//cerebelloparenchymal disorder iii//cpd iii//pmpca autosomal recessive congenital cerebellar ataxia//scar2//scar2 (spinocerebellar ataxia autosomal recessive 2)	PMPCA	PMPCA	https://raresource.nih.gov/literature/disease/0001199	0001199	213200	1170	C1859298	C565865	peptidase, mitochondrial processing subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 2"	3
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	cerebrofaciothoracic dysplasia//cfsmr1//pascual-castroviejo syndrome type 1	TMCO1	TMCO1	https://raresource.nih.gov/literature/disease/0001210	0001210	213980	1394	C5677021	C565862	transmembrane and coiled-coil domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"	14
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	cerebroretinal vasculopathy, hereditary//hereditary vascular retinopathy//retinal vasculopathy and cerebral leukoencephalopathy//retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena//rvcl//rvcl - retinal vasculopathy cerebral leukoencephalopathy//rvcl-s//rvcl-s - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations//rvcls//vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations	TREX1	TREX1	https://raresource.nih.gov/literature/disease/0001217	0001217	192315	247691	C1860518	C566007	three prime repair exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	65
Neuronal ceroid lipofuscinosis 10	cathepsin d deficiency//cathepsin d deficient neuronal ceroid lipofuscinosis//ceroid lipofuscinosis, neuronal, type 10//cln10//cln10 disease//cln10-ncl//ctsd neuronal ceroid lipofuscinosis//ctsd-related neuronal ceroid-lipofuscinosis//neuronal ceroid lipofuscinosis cathepsin d-deficient//neuronal ceroid lipofuscinosis caused by mutation in ctsd//neuronal ceroid lipofuscinosis due to cathepsin d deficiency//neuronal ceroid lipofuscinosis due to deficiency of cathepsin d//neuronal ceroid lipofuscinosis type 10	CTSD	CTSD	https://raresource.nih.gov/literature/disease/0001218	0001218	610127	228337	C1864669	C566438	cathepsin D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 10"	33
Neuronal ceroid lipofuscinosis 1	ceroid lipofuscinosis neuronal 1//ceroid lipofuscinosis, neuronal, 1//ceroid lipofuscinosis, neuronal, 1, variable age at onset//ceroid lipofuscinosis, neuronal, type 1//ceroid storage disease//cln1//cln1 disease//cln1 variable age at onset//neuronal ceroid lipofuscinosis 1 variable age of onset//neuronal ceroid lipofuscinosis caused by mutation in ppt1//neuronal ceroid lipofuscinosis type 1//ppt1 neuronal ceroid lipofuscinosis//ppt1-related neuronal ceroid-lipofuscinosis	PPT1	PPT1	https://raresource.nih.gov/literature/disease/0001219	0001219	256730	228329	C1850451		palmitoyl-protein thioesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 1"	87
Neuronal ceroid lipofuscinosis 7	ceroid lipofuscinosis, neuronal, type 7//cln7//cln7 disease//mfsd8 neuronal ceroid lipofuscinosis//mfsd8-related neuronal ceroid-lipofuscinosis//neuronal ceroid lipofuscinosis caused by mutation in mfsd8//neuronal ceroid lipofuscinosis type 7	MFSD8	MFSD8	https://raresource.nih.gov/literature/disease/0001220	0001220	610951	228366	C1838571	C563989	major facilitator superfamily domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 7"	38
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	autosomal dominant kufs disease//autosomal dominant neuronal ceroid lipofuscinosis 4b//ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant//ceroid lipofuscinosis, neuronal, 4, parry type//cln4//cln4b disease//neuronal ceroid lipofuscinosis 4 parry type//neuronal ceroid lipofuscinosis 4b//neuronal ceroid lipofuscinosis type 4b//neuronal ceroid lipofuscinosis, parry type	DNAJC5	DNAJC5	https://raresource.nih.gov/literature/disease/0001222	0001222	162350	228343	C1834207		DnaJ heat shock protein family (Hsp40) member C5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ceroid lipofuscinosis, neuronal, 4 (Kufs type)"	6
Neuronal ceroid lipofuscinosis 5	ceroid lipofuscinosis, neuronal, 5, variable age at onset//ceroid lipofuscinosis, neuronal, type 5//cln5//cln5 disease//cln5 neuronal ceroid lipofuscinosis//cln5-related neuronal ceroid-lipofuscinosis//neuronal ceroid lipofuscinosis 5 variable age of onset//neuronal ceroid lipofuscinosis caused by mutation in cln5//neuronal ceroid lipofuscinosis finnish variant//neuronal ceroid lipofuscinosis type 5//neuronal ceroid lipofuscinosis, late infantile, finnish variant	CLN5	CLN5	https://raresource.nih.gov/literature/disease/0001223	0001223	256731	228360	C1850442	C575534	CLN5 intracellular trafficking protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 5"	44
Ceroid lipofuscinosis, neuronal, 6A	ceroid lipofuscinosis, neuronal, type 6//cln6//cln6 disease//cln6 late infantile neuronal ceroid lipofuscinosis//cln6-related neuronal ceroid-lipofuscinosis//cln6a//late infantile neuronal ceroid lipofuscinosis caused by mutation in cln6//neuronal ceroid lipofuscinosis 6//neuronal ceroid lipofuscinosis 6 variable age of onset//neuronal ceroid lipofuscinosis type 6//neuronal ceroid lipofuscinosis, gypsy/indian early juvenile variant//neuronal ceroid lipofuscinosis, late infantile, variant//vlincl	CLN6	CLN6	https://raresource.nih.gov/literature/disease/0001224	0001224	601780	228363	C5551375	C566627	CLN6 transmembrane ER protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ceroid lipofuscinosis, neuronal, 6A"	66
Curly hair, ankyloblepharon, nail dysplasia syndrome	baughman syndrome//chand syndrome//chands//chands - curly hair, ankyloblepharon, nail dysplasia syndrome	RIPK4	RIPK4	https://raresource.nih.gov/literature/disease/0001233	0001233	214350	1401	C0406733	C538074	receptor interacting serine/threonine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Curly hair, ankyloblepharon, nail dysplasia syndrome"	6
Char syndrome	char//patent ductus arteriosus with facial dysmorphism and abnormal fifth digits	TFAP2B	TFAP2B	https://raresource.nih.gov/literature/disease/0001237	0001237	169100	46627	C1868570	C566815	transcription factor AP-2 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Char syndrome"	75
Charcot-Marie-Tooth disease X-linked recessive 4	axonal motor sensory neuropathy with deafness and intellectual disability//axonal motor sensory neuropathy with deafness and mental retardation//charcot-marie-tooth disease with deafness and intellectual disability//charcot-marie-tooth disease with deafness and mental retardation//charcot-marie-tooth disease x-linked recessive type 4//charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia//charcot-marie-tooth neuropathy x type 4//cmt4x//cmtx 4//cmtx4//cowchock syndrome//cowchock syndrome, x-linked recessive//cowck//nadmr//namsd//x-linked charcot-marie-tooth disease type 4	AIFM1	AIFM1	https://raresource.nih.gov/literature/disease/0001240	0001240	310490	101078	C0795910		apoptosis inducing factor mitochondria associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease X-linked recessive 4"	9
Charcot-Marie-Tooth disease, type IA	autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1a//charcot-marie-tooth disease type 1a//charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a//charcot-marie-tooth disease, demyelinating, type 1a//charcot-marie-tooth disease, type 1a//charcot-marie-tooth neuropathy type 1a//charcot-marie-tooth neuropathy, type 1a//charcot-marie-tooth syndrome type 1a//cmt 1a//cmt1a//hereditary motor and sensory neuropathy 1a//hereditary motor and sensory neuropathy ia//hmsn 1a//hmsn1a//microduplication 17p12	PMP22	PMP22	https://raresource.nih.gov/literature/disease/0001245	0001245	118220	101081	C0270911		peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, type IA"	771
Charcot-Marie-Tooth disease type 1B	autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1b//charcot-marie-tooth disease slow nerve conduction type linked to duffy//charcot-marie-tooth disease type 1 caused by mutation in mpz//charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b//charcot-marie-tooth disease, demyelinating, type 1b//charcot-marie-tooth disease, slow nerve conduction type, linked to duffy//charcot-marie-tooth disease, type ib//charcot-marie-tooth neuropathy type 1b//charcot-marie-tooth neuropathy, type 1b//cmt1b//hereditary motor and sensory neuropathy 1b//hereditary motor and sensory neuropathy i//hereditary motor and sensory neuropathy ib//hmsn ib//hmsn1b//mpz charcot-marie-tooth disease type 1	MPZ	MPZ	https://raresource.nih.gov/literature/disease/0001246	0001246	118200	101082	C0270912		myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 1B"	127
Charcot-Marie-Tooth disease type 1C	charcot-marie-tooth disease type 1 caused by mutation in litaf//charcot-marie-tooth disease, demyelinating, type 1c//charcot-marie-tooth disease, type ic//charcot-marie-tooth neuropathy type 1c//charcot-marie-tooth neuropathy, type 1c//cmt slow nerve conduction type c//cmt, slow nerve conduction type c//cmt1c//hmsn ic//hmsn1c//litaf charcot-marie-tooth disease type 1//neuropathy hereditary motor and sensory type 1c//neuropathy, hereditary motor and sensory, type ic	LITAF	LITAF	https://raresource.nih.gov/literature/disease/0001247	0001247	601098	101083	C0270913	C537984	lipopolysaccharide induced TNF factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 1C"	24
Charcot-Marie-Tooth disease type 2A1	autosomal dominant charcot-marie-tooth disease axonal type 2a1//autosomal dominant charcot-marie-tooth disease type 2a1//charcot-marie-tooth disease neuronal type 2a1//charcot-marie-tooth disease type 2 caused by mutation in kif1b//charcot-marie-tooth disease type 2a//charcot-marie-tooth disease, axonal, autosomal dominant, type 2a1//charcot-marie-tooth disease, axonal, type 2a1//charcot-marie-tooth disease, neuronal, type 2a1//charcot-marie-tooth neuropathy type 2a1//charcot-marie-tooth neuropathy, type 2a1//cmt2a//cmt2a1//hereditary motor and sensory neuropathy iia1//hmsn iia1//hmsn2a1//kif1b charcot-marie-tooth disease type 2	KIF1B	KIF1B	https://raresource.nih.gov/literature/disease/0001248	0001248	118210	99946	C1861678	C566138	kinesin family member 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2A1"	155
Charcot-Marie-Tooth disease type 2B2	ar-cmt2b2//arcmt2b//autosomal recessive axonal charcot-marie-tooth disease type 2b2//autosomal recessive axonal cmt4c3//charcot-marie-tooth disease neuronal type 2b2//charcot-marie-tooth disease, axonal, autosomal recessive, type 2b2//charcot-marie-tooth disease, axonal, type 2b2//charcot-marie-tooth disease, neuronal, type 2b2//charcot-marie-tooth neuropathy type 2b2//cmt2b2	PNKP	PNKP	https://raresource.nih.gov/literature/disease/0001249	0001249	605589	101101	C1854150	C537991	polynucleotide kinase 3'-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2B2"	5
Charcot-Marie-Tooth disease axonal type 2C	autosomal cominant axonal charcot-marie-tooth disease type 2c//autosomal dominant charcot-marie-tooth disease type 2c//charcot-marie-tooth disease type 2 caused by mutation in trpv4//charcot-marie-tooth disease, axonal, autosomal dominant, type 2c//charcot-marie-tooth neuropathy type 2c//cmt2c//hereditary motor and sensory neuropathy type iic//hmsn2c//trpv4 charcot-marie-tooth disease type 2	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0001250	0001250	606071	99937	C1853710		transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2C"	16
Charcot-Marie-Tooth disease type 2D	autosomal dominant charcot-marie-tooth disease type 2d//charcot-marie-tooth disease neuronal type 2d//charcot-marie-tooth disease type 2 caused by mutation in gars//charcot-marie-tooth disease, axonal, type 2d//charcot-marie-tooth disease, neuronal, type 2d//charcot-marie-tooth neuropathy type 2d//cmt2d//gars charcot-marie-tooth disease type 2	GARS1	GARS1	https://raresource.nih.gov/literature/disease/0001251	0001251	601472	99938	C1832274	C537993	glycyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2D"	54
Charcot-Marie-Tooth disease type 4A	autosomal recessive demyelinating charcot-marie-tooth disease type 4a//charcot-marie-tooth disease type 4 caused by mutation in gdap1//charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a//charcot-marie-tooth neuropathy type 4a//cmt4a//gdap1 charcot-marie-tooth disease type 4	GDAP1	GDAP1	https://raresource.nih.gov/literature/disease/0001252	0001252	214400	99948	C1859198	C535419	ganglioside induced differentiation associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4A"	29
Charcot-Marie-Tooth disease type 4B1	autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1//charcot-marie-tooth disease type 4 caused by mutation in mtmr2//charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1//charcot-marie-tooth disease, demyelinating, type 4b1//charcot-marie-tooth disease, type 4b//charcot-marie-tooth neuropathy type 4b1//charcot-marie-tooth neuropathy type 4b1 (cmt4b1)//cmt4b1//mtmr2 charcot-marie-tooth disease type 4	MTMR2	MTMR2	https://raresource.nih.gov/literature/disease/0001253	0001253	601382	99955	C1832399	C535420	myotubularin related protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4B1"	31
Charcot-Marie-Tooth disease X-linked dominant 1	charcot marie tooth disease x-linked 1//charcot-marie-tooth disease type x caused by mutation in gjb1//charcot-marie-tooth disease x-linked dominant type 1//charcot-marie-tooth disease, x-linked dominant, type 1//charcot-marie-tooth disease, x-linked, 1//charcot-marie-tooth neuropathy x type 1//charcot-marie-tooth neuropathy x-linked dominant 1//charcot-marie-tooth neuropathy, x-linked dominant, 1, x-linked dominant//charcot-marie-tooth neuropathy, x-linked, 1//charcot-marie-tooth peroneal muscular atrophy, x-linked//cmt1x//cmtx 1//cmtx1//gjb1 charcot-marie-tooth disease type x//hereditary motor and sensory neuropathy, x-linked//hmsn, x-linked//x-linked charcot-marie-tooth disease type 1	GJB1	GJB1	https://raresource.nih.gov/literature/disease/0001258	0001258	302800	101075	C0393808		gap junction protein beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease X-linked dominant 1"	120
Primary sclerosing cholangitis	psc//psc - primary sclerosing cholangitis	SEMA4D	SEMA4D	https://raresource.nih.gov/literature/disease/0001280	0001280	613806	171	C0566602		semaphorin 4D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary sclerosing cholangitis"	7133
Progressive familial intrahepatic cholestasis type 2	abcb11 progressive familial intrahepatic cholestasis//bsep (bile salt export pump) deficiency//bsep deficiency//cholestasis, progressive familial intrahepatic 2//cholestasis, progressive familial intrahepatic, type 2//pfic2//pfic2 - progressive familial intrahepatic cholestasis type 2//progressive familial intrahepatic cholestasis caused by mutation in abcb11	ABCB11	ABCB11	https://raresource.nih.gov/literature/disease/0001288	0001288	601847	79304	C3489789		ATP binding cassette subfamily B member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial intrahepatic cholestasis type 2"	142
Progressive familial intrahepatic cholestasis type 3	abcb4 progressive familial intrahepatic cholestasis//cholestasis, progressive familial intrahepatic 3//cholestasis, progressive familial intrahepatic, type 3//low gamma-gt familial intrahepatic cholestasis//mdr3 deficiency//pfic3//progressive familial intrahepatic cholestasis caused by mutation in abcb4	ABCB4	ABCB4	https://raresource.nih.gov/literature/disease/0001289	0001289	602347	79305	C1865643	C535935	ATP binding cassette subfamily B member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial intrahepatic cholestasis type 3"	115
Chondrocalcinosis 2	calcium gout//calcium pyrophosphate arthropathy//calcium pyrophosphate dihydrate crystal deposition disease//chondrocalcinosis type 2//familial articular chondrocalcinosis//familial calcium pyrophosphate deposition//familial calcium pyrophosphate deposition disease//familial calcium pyrophosphate dihydrate deposition disease//familial cc//familial cppd//hereditary articular chondrocalcinosis//hereditary calcium pyrophosphate deposition//hereditary cc	ANKH	ANKH	https://raresource.nih.gov/literature/disease/0001292	0001292	118600	1416	C0856830	C563162	ANKH inorganic pyrophosphate transport regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrocalcinosis 2"	341
X-linked chondrodysplasia punctata 1	arse x-linked chondrodysplasia punctata//brachytelephalangic chondrodysplasia punctata//cdpx1//chondrodysplasia punctata, brachytelephalangic//chondrodysplasia punctata, x-linked recessive//chondrodysplasia punctata, x-linked recessive, x-linked recessive//x-linked chondrodysplasia punctata caused by mutation in arse	ARSL	ARSL	https://raresource.nih.gov/literature/disease/0001296	0001296	302950	79345	C3669395		arylsulfatase L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked chondrodysplasia punctata 1"	44
Grebe syndrome	acromesomelic dysplasia 2a//acromesomelic dysplasia grebe type//acromesomelic dysplasia, grebe type//chondrodysplasia, grebe type//grebe chondrodysplasia//grebe dysplasia//langer-saldino achondrogenesis//type ii achondrogenesis	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0001300	0001300	200700	2098	C0265260		growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Grebe syndrome"	770
Ellis-van Creveld syndrome	chondroectodermal dysplasia//evc//evc - ellis-van creveld syndrome//evc-related ellis-van creveld syndrome//evc2-related ellis-van creveld syndrome//mesodermic dysplasia//mesoectodermal dysplasia	EVC;EVC2	EVC;EVC2	https://raresource.nih.gov/literature/disease/0001301	0001301	225500	289	C0013903	D004613	EvC ciliary complex subunit 1; EvC ciliary complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ellis-van Creveld syndrome"	672
Chronic infantile neurological, cutaneous and articular syndrome	chronic infantile neurological cutaneous articular syndrome//chronic neurologic cutaneous and articular syndrome//cinca//cinca - chronic infantile neurological, cutaneous and articular syndrome//cinca syndrome//cinca/nomid//cryopyrin-associated periodic syndrome 3//infantile-onset multisystem inflammatory disease//iomid syndrome//neonatal onset multisystem inflammatory disease//neonatal-onset multisystem inflammatory disease//nomid//nomid - neonatal onset multisystem inflammatory disease//nomid syndrome//prieur griscelli syndrome//prieur-griscelli syndrome	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0001356	0001356	607115	1451	C0409818		NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic infantile neurological, cutaneous and articular syndrome"	12076
Cleft palate with or without ankyloglossia, X-linked	cleft palate with ankyloglossia//x-linked cleft palate and ankyloglossia	TBX22	TBX22	https://raresource.nih.gov/literature/disease/0001394	0001394	303400	324601	C1844830	C536426	T-box transcription factor 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleft palate with or without ankyloglossia, X-linked"	4
Thanatophoric dysplasia, type 2	cloverleaf skull with thanatophoric dwarfism//cloverleaf skull-micromelic bone dysplasia syndrome//td2//thanatophoric dwarfism type 2//thanatophoric dwarfism-cloverleaf skull syndrome//thanatophoric dysplasia type ii//thanatophoric dysplasia with kleeblattschaedel//thanatophoric dysplasia with straight femurs and cloverleaf skull//type 2 thanatophoric dysplasia	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0001402	0001402	187601	93274	C1300257	C536508	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thanatophoric dysplasia, type 2"	60
COACH syndrome	cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis//cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis//cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis//coach (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome//coach1//gentile syndrome//joubert syndrome with congenital hepatic fibrosis//joubert syndrome with hepatic defect//js-h	INPP5E;TMEM67;RPGRIP1L;CC2D2A	INPP5E;TMEM67;RPGRIP1L;CC2D2A	https://raresource.nih.gov/literature/disease/0001410	0001410		1454	C1857662	C536430	inositol polyphosphate-5-phosphatase E; transmembrane protein 67; RPGRIP1 like; coiled-coil and C2 domain containing 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COACH syndrome"	776
Cockayne syndrome type 1	classical cockayne syndrome//cockayne syndrome type i//cockayne syndrome a//cockayne syndrome caused by mutation in ercc8//cockayne syndrome classic form//cockayne syndrome classical//cockayne syndrome type a//cockayne syndrome type i//cockayne syndrome, type a//ercc8 cockayne syndrome//ercc8-related cockayne syndrome	ERCC8	ERCC8	https://raresource.nih.gov/literature/disease/0001415	0001415	216400	90321	C0751039		ERCC excision repair 8, CSA ubiquitin ligase complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cockayne syndrome type 1"	186
Cockayne syndrome type 3	cockayne syndrome type c//cockayne syndrome type iii//cockayne syndrome, type iii	ERCC6;ERCC8	ERCC6;ERCC8	https://raresource.nih.gov/literature/disease/0001417	0001417		90324	C0751037		ERCC excision repair 6, chromatin remodeling factor; ERCC excision repair 8, CSA ubiquitin ligase complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cockayne syndrome type 3"	44
CODAS syndrome	cerebral, ocular, dental, auricular, and skeletal anomalies syndrome//cerebro-oculo-dento-auriculo-skeletal syndrome//cerebrooculodentoauriculoskeletal syndrome//codas (cerebro-oculo-dento-auriculo-skeletal) syndrome	LONP1	LONP1	https://raresource.nih.gov/literature/disease/0001418	0001418	600373	1458	C1838180	C536434	lon peptidase 1, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CODAS syndrome"	20
Cockayne syndrome type 2	cockayne syndrome b//cockayne syndrome type b//cockayne syndrome type ii//cockayne syndrome, type b//cockayne syndrome, type ii//csb//early onset cockayne syndrome//ercc6-related cockayne syndrome	ERCC6	ERCC6	https://raresource.nih.gov/literature/disease/0001420	0001420	133540	90322	C0751038		ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cockayne syndrome type 2"	352
Cole-Carpenter syndrome	bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome//bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome//cole-carpenter dysplasia	SEC24D;P4HB;CRTAP	SEC24D;P4HB;CRTAP	https://raresource.nih.gov/literature/disease/0001425	0001425		2050	C1862178	C535963	SEC24 homolog D, COPII coat complex component; prolyl 4-hydroxylase subunit beta; cartilage associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cole-Carpenter syndrome"	11
Dislocation of the hip-dysmorphism syndrome	collins-pope syndrome//dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism	TRIM33	TRIM33	https://raresource.nih.gov/literature/disease/0001428	0001428	601450	2412	C1832353	C563315	tripartite motif containing 33	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dislocation of the hip-dysmorphism syndrome"	102
Lens coloboma	coloboma of eye lens//coloboma of lens	FZD5;SALL2;PAX6;ABCB6	FZD5;SALL2;PAX6;ABCB6	https://raresource.nih.gov/literature/disease/0001433	0001433		98943	C0344516		frizzled class receptor 5; spalt like transcription factor 2; paired box 6; ATP binding cassette subfamily B member 6 (LAN blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lens coloboma"	53
Iris coloboma	cat eye//coloboma of iris//coloboma of iris (disease)//coloboma of the iris//keyhole iris	ABCB6;ACTG1;SALL2;PAX6;FZD5	ABCB6;ACTG1;SALL2;PAX6;FZD5	https://raresource.nih.gov/literature/disease/0001434	0001434		98944	C0240063		ATP binding cassette subfamily B member 6 (LAN blood group); actin gamma 1; spalt like transcription factor 2; paired box 6; frizzled class receptor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Iris coloboma"	261
Coloboma of macula	agenesis of macula//coloboma of the macula//congenital coloboma of macula lutea//hereditary macular coloboma (subtype)//macular coloboma	ABCB6;FZD5;SALL2;PAX6	ABCB6;FZD5;SALL2;PAX6	https://raresource.nih.gov/literature/disease/0001436	0001436	120300	98945	C1852767		ATP binding cassette subfamily B member 6 (LAN blood group); frizzled class receptor 5; spalt like transcription factor 2; paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma of macula"	58
Coloboma of optic nerve	coloboma of optic disc//coloboma of optic nerve (disease)//coloboma of optic papilla//congenital coloboma of optic disc//congenital coloboma of the optic nerve//congenital optic disc coloboma//optic disc coloboma//optic nerve coloboma//optic nerve head pits, bilateral congenital	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0001438	0001438	120430	98947	C0155299	C535970	paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma of optic nerve"	313
Uveal coloboma-cleft lip and palate-intellectual disability	cob1//coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	YAP1	YAP1	https://raresource.nih.gov/literature/disease/0001440	0001440	120433	1473	C3805432	C535971	Yes1 associated transcriptional regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uveal coloboma-cleft lip and palate-intellectual disability"	None
Anophthalmia/microphthalmia-esophageal atresia syndrome	aeg - anophthalmia-esophageal-genital syndrome//aeg syndrome//anophthalmia-esophageal-genital syndrome//mcops3//microphthalmia and esophageal atresia syndrome//microphthalmia, syndromic type 3//sox2 anophthalmia syndrome//sox2-related eye disorder//syndromic microphthalmia 3//syndromic microphthalmia type 3	SOX2	SOX2	https://raresource.nih.gov/literature/disease/0001443	0001443	206900	77298	C1859773		SRY-box transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anophthalmia/microphthalmia-esophageal atresia syndrome"	26
Complement component 2 deficiency	c2 complement deficiency//c2 deficiency//c2d//complement component c2 deficiency//complement deficiency caused by mutation in c2	C2	C2	https://raresource.nih.gov/literature/disease/0001452	0001452	217000		C3150275		complement C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 2 deficiency"	174
Jalili syndrome	amelogenesis imperfecta co-occurrent with cone rod dystrophy//cone rod dystrophy-amelogenesis imperfecta syndrome//cone-rod dystrophy and amelogenesis imperfecta	CNNM4	CNNM4	https://raresource.nih.gov/literature/disease/0001463	0001463	217080	1873	C3495589	C000596385	cyclin and CBS domain divalent metal cation transport mediator 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jalili syndrome"	33
Congenital lipoid adrenal hyperplasia due to STAR deficency	20,22-desmolase deficiency//adrenal hyperplasia i//cholesterol desmolase deficiency//cholesterol desmolase-deficient congenital adrenal hyperplasia//cholesterol monooxygenase (side-chain cleaving) deficiency//clah//congenital lipoid adrenal hyperplasia//congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism//defective synthesis of cholesterol desmolase//lipoid adrenal hyperplasia	STAR	STAR	https://raresource.nih.gov/literature/disease/0001465	0001465	201710	90790	C0342474		steroidogenic acute regulatory protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital lipoid adrenal hyperplasia due to STAR deficency"	149
Deficiency of steroid 17-alpha-monooxygenase	17 alpha-hydroxylase deficiency//17-alpha-hydroxylase deficiency//17-alpha-hydroxylase-deficient congenital adrenal hyperplasia//17-alpha-hydroxylase/17,20-lyase deficiency//adrenal hyperplasia v//adrenogenital disorder due to 17-alpha-hydroxylase deficiency//cah - 17-alpha-hydroxysteroid dehydrogenase deficiency//cah - 17-hydroxylase deficiency//cah due to 17-alpha-hydroxylase deficiency//combined 17-hydroxylase/17,20-lyase deficiency//congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency//congenital adrenal hyperplasia type 5//congenital adrenal hyperplasia, type 5//deficiency of steroid 17-alpha-hydroxylase//steroid 17-alpha-monooxygenase deficiency	CYP17A1	CYP17A1	https://raresource.nih.gov/literature/disease/0001469	0001469	202110	90793	C0268285		cytochrome P450 family 17 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of steroid 17-alpha-monooxygenase"	181
Neuronopathy, distal hereditary motor, autosomal dominant 8	autosomal dominant benign distal spinal muscular atrophy//autosomal dominant congenital benign spinal muscular atrophy//congenital benign spinal muscular atrophy with contracture//congenital benign spinal muscular atrophy with contractures//congenital nonprogressive spinal muscular atrophy//neuronopathy, distal hereditary motor, type viii//neuropathy, distal hereditary motor, type viii//spinal muscular atrophy, congenital benign, with contractures	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0001474	0001474	600175	1216	C1838492	C563981	transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal dominant 8"	1
Finnish congenital nephrotic syndrome	cnf - finnish congenital nephrotic syndrome//congenital finnish nephrosis//congenital nephrotic syndrome - finnish type//congenital nephrotic syndrome, finnish type//finnish congenital nephrosis//nephrotic syndrome - nphs1 associated//nephrotic syndrome, type 1//nphs1	NPHS1	NPHS1	https://raresource.nih.gov/literature/disease/0001500	0001500	256300	839	C0403399		NPHS1 adhesion molecule, nephrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Finnish congenital nephrotic syndrome"	7058
Hereditary continuous muscle fiber activity	continuous muscle fiber activity hereditary//continuous muscle fiber activity, hereditary//continuous muscle fibre activity hereditary//continuous muscle fibre activity, hereditary	KCNA1	KCNA1	https://raresource.nih.gov/literature/disease/0001512	0001512		972	C1834559		potassium voltage-gated channel subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary continuous muscle fiber activity"	None
Continuous spikes and waves during sleep	continuous slow spike and wave of sleep//continuous spike and waves during slow-wave sleep syndrome//continuous spike-wave during slow sleep syndrome//continuous spike-wave in sleep//continuous spikes and waves during slow-wave sleep//csws//cswss syndrome//ee-swas//eeswas//electrical status epilepticus of sleep//electrographic status epilepticus in sleep//electrographic status epilepticus of sleep//epileptic aphasia//epileptic encephalopathy with continuous spike-and-wave during slow sleep//epileptic encephalopathy with spike and wave activation in sleep//epileptic encephalopathy with spike-and-wave activation in sleep//eses index//eses with language regression//lk syndrome//lks	GRIN2A	GRIN2A	https://raresource.nih.gov/literature/disease/0001513	0001513		725	C5552731		glutamate ionotropic receptor NMDA type subunit 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Continuous spikes and waves during sleep"	3804
Lethal tight skin contracture syndrome	fetal hypokinesia sequence due to restrictive dermopathy//hyperkeratosis-contracture syndrome//infantile restrictive dermopathy//lethal hyperkeratosis-contracture syndrome//lethal restrictive dermopathy//restrictive dermopathy//restrictive dermopathy, lethal//tight skin contracture syndrome	ZMPSTE24;LMNA	ZMPSTE24;LMNA	https://raresource.nih.gov/literature/disease/0001516	0001516		1662	C0406585		zinc metallopeptidase STE24; lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal tight skin contracture syndrome"	139
Benign neonatal seizures	autosomal dominant form of benign neonatal seizures//benign familal neonatal seizures//benign familial convulsion//benign familial convulsions//benign familial neonatal convulsions//benign familial neonatal epilepsy//benign familial neonatal seizures//benign neonatal convulsions//benign neonatal familial convulsions//bfns//convulsions benign familial neonatal dominant form//familial neonatal seizures//seizures, benign familial neonatal//self-limited familial neonatal epilepsy//selfne - self-limited familial neonatal epilepsy	KCNQ2;KCNQ3	KCNQ2;KCNQ3	https://raresource.nih.gov/literature/disease/0001519	0001519		1949	C0220669		potassium voltage-gated channel subfamily Q member 2; potassium voltage-gated channel subfamily Q member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign neonatal seizures"	293
Menkes kinky-hair syndrome	congenital hypocupremia//copper transport disease//kinky hair disease//kinky hair syndrome//md//menkes disease//menkes disease, x-linked recessive//menkes kinky hair disease//menkes syndrome//mk//mk - menkes syndrome//mnk//mnk - menkes syndrome//steely hair disease//steely hair syndrome//trichopoliodystrophy//x-linked copper deficiency	ATP7A	ATP7A	https://raresource.nih.gov/literature/disease/0001521	0001521	309400	565	C0022716	D007706	ATPase copper transporting alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Menkes kinky-hair syndrome"	8745
Corneal dystrophy-perceptive deafness syndrome	cdpd//congenital hereditary endothelial dystrophy and perceptive deafness syndrome//corneal dystrophy and perceptive deafness syndrome//corneal dystrophy and sensorineural deafness//corneal dystrophy with progressive deafness//corneal dystrophy with progressive hearing loss//corneal dystrophy-perceptive hearing loss syndrome//corneal endothelial dystrophy and perceptive deafness//harboyan syndrome	SLC4A11	SLC4A11	https://raresource.nih.gov/literature/disease/0001529	0001529	217400	1490	C1857572	C535473	solute carrier family 4 member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy-perceptive deafness syndrome"	38
Agenesis of the corpus callosum with peripheral neuropathy	accpn//agenesis of corpus callosum with peripheral neuropathy//agenesis of corpus callosum with polyneuropathy//andermann syndrome//charlevoix disease//corpus callosum agenesis-neuronopathy syndrome//hereditary motor and sensory neuropathy with agenesis of the corpus callosum//hmsn/acc//peripheral neuropathy associated with agenesis of the corpus callosum//polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum	SLC12A6	SLC12A6	https://raresource.nih.gov/literature/disease/0001537	0001537	218000	1496	C0795950	C536446	solute carrier family 12 member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agenesis of the corpus callosum with peripheral neuropathy"	1122
Costello syndrome	congenital myopathy with excess of muscle spindles//cstlo//faciocutaneoskeletal syndrome//fcs syndrome	HRAS	HRAS	https://raresource.nih.gov/literature/disease/0001550	0001550	218040	3071	C0587248	D056685	HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Costello syndrome"	505
Pelviscapular dysplasia	cousin syndrome//familial pelvis-scapular dysplasia//pelviscapular dysplasia syndrome	TBX15	TBX15	https://raresource.nih.gov/literature/disease/0001555	0001555	260660	93333	C1850040	C535550	T-box transcription factor 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelviscapular dysplasia"	4
Cranioosteoarthropathy	coa//currarino disease//currarino idiopathic osteoarthropathy//reginato-schiapachasse syndrome	HPGD	HPGD	https://raresource.nih.gov/literature/disease/0001564	0001564		1525	C2678439		15-hydroxyprostaglandin dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioosteoarthropathy"	1098
Craniodiaphyseal dysplasia	cdd//cdd - craniodiaphyseal dysplasia//lionitis	SOST;SP7	SOST;SP7	https://raresource.nih.gov/literature/disease/0001567	0001567		1513	C0410539	C562940	sclerostin; Sp7 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniodiaphyseal dysplasia"	469
Craniofacial-deafness-hand syndrome	cdhs//craniofacial-hearing loss-hand syndrome//sommer young wee frye syndrome//sommer-young-wee-frye syndrome	PAX3	PAX3	https://raresource.nih.gov/literature/disease/0001571	0001571	122880	1529	C1852510	C536453	paired box 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniofacial-deafness-hand syndrome"	59
Craniofrontonasal syndrome	cfnd//cfns//craniofrontonasal dysostosis//craniofrontonasal dysplasia//craniofrontonasal dysplasia, x-linked dominant	EFNB1	EFNB1	https://raresource.nih.gov/literature/disease/0001578	0001578	304110	1520	C0220767	C536456	ephrin B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniofrontonasal syndrome"	137
Craniometaphyseal dysplasia, autosomal dominant	cmdd	ANKH	ANKH	https://raresource.nih.gov/literature/disease/0001581	0001581	123000		C1852502	C565145	ANKH inorganic pyrophosphate transport regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniometaphyseal dysplasia, autosomal dominant"	46
Craniometaphyseal dysplasia, autosomal recessive	autosomal recessive craniometaphyseal dysplasia//cmdr	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0001582	0001582	218400		C2931244	C536570	gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniometaphyseal dysplasia, autosomal recessive"	5
Baller-Gerold syndrome	bgs//craniosynostosis with radial defects//craniosynostosis-radial aplasia syndrome	RECQL4	RECQL4	https://raresource.nih.gov/literature/disease/0001602	0001602	218600	1225	C0265308	C536788	RecQ like helicase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Baller-Gerold syndrome"	82
Creatine transporter deficiency	ccds1//cerebral creatine deficiency syndrome 1//cerebral creatine deficiency syndrome 1, x-linked recessive//cerebral creatine deficiency syndrome type 1//creatine transporter defect//mental retardation , x-linked with seizures, short stature and midface hypoplasia//mental retardation , x-linked, with creatine transport deficiency//slc6a8 deficiency//slc6a8 related creatine transporter deficiency//slc6a8-related creatine transporter deficiency//x-linked creatine deficiency//x-linked creatine deficiency syndrome//x-linked creatine transporter deficiency	SLC6A8	SLC6A8	https://raresource.nih.gov/literature/disease/0001608	0001608	300352	52503	C1845862	C535598	solute carrier family 6 member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Creatine transporter deficiency"	156
Cold-induced sweating syndrome 1	ciss1//cold-induced sweating syndrome type 1//crisponi/cold-induced sweating syndrome 1//crlf1-related cold-induced sweating syndrome including crisponi syndrome//muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death	CRLF1	CRLF1	https://raresource.nih.gov/literature/disease/0001611	0001611	272430	1545	C1848947	C536214	cytokine receptor like factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cold-induced sweating syndrome 1"	21
Familial exudative vitreoretinopathy	criswick-schepens syndrome//exudative vitreoretinopathy//fevr//fevr - familial exudative vitreoretinopathy	FZD4;NDP;TSPAN12;LRP5;ZNF408;CTNNB1	FZD4;NDP;TSPAN12;LRP5;ZNF408;CTNNB1	https://raresource.nih.gov/literature/disease/0001613	0001613		891	C0339539	C580083;D000080345	frizzled class receptor 4; norrin cystine knot growth factor NDP; tetraspanin 12; LDL receptor related protein 5; zinc finger protein 408; catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial exudative vitreoretinopathy"	636
Currarino triad	currarino syndrome	MNX1	MNX1	https://raresource.nih.gov/literature/disease/0001626	0001626	176450	1552	C1531773	C536221	motor neuron and pancreas homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Currarino triad"	227
Cutis laxa with osteodystrophy	arcl2a//arcl2a - autosomal recessive cutis laxa type 2a//atp6v0a2-related cutis laxa//autosomal recessive cutis laxa type 2a//autosomal recessive cutis laxa type iia//cutis laxa with bone dystrophy//cutis laxa with congenital disorder of glycosylation//cutis laxa with growth and developmental delay//cutis laxa with joint laxity and retarded development//cutis laxa, autosomal recessive type 2a//cutis laxa, autosomal recessive, type 2a//cutis laxa, autosomal recessive, type iia//cutis laxa, debre type//debre-type cutis laxa	ATP6V0A2	ATP6V0A2	https://raresource.nih.gov/literature/disease/0001638	0001638	219200	357058	C0268355		ATPase H+ transporting V0 subunit a2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa with osteodystrophy"	11
Cutis laxa, autosomal dominant	adcl//autosomal dominant cutis laxa//cutis laxa, dominant type	ALDH18A1;ELN;FBLN5	ALDH18A1;ELN;FBLN5	https://raresource.nih.gov/literature/disease/0001639	0001639		90348	C0268350	C562627	aldehyde dehydrogenase 18 family member A1; elastin; fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal dominant"	281
Autosomal recessive cutis laxa type 2B	arcl2, progeroid type//arcl2b//arcl2b - autosomal recessive cutis laxa type 2b//autosomal recessive cutis laxa type 2 caused by mutation in pycr1//autosomal recessive cutis laxa type 2 progeroid type//autosomal recessive cutis laxa type 2, progeroid type//cutis laxa with progeroid features//cutis laxa, autosomal recessive, type iib//pycr1 autosomal recessive cutis laxa type 2	PYCR1	PYCR1	https://raresource.nih.gov/literature/disease/0001641	0001641	612940	357064	C2751987	C567855	pyrroline-5-carboxylate reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cutis laxa type 2B"	4
DOORS syndrome	autosomal recessive deafness onychodystrophy syndrome//autosomal recessive deafness-onychodystrophy syndrome//autosomal recessive hearing loss-onychodystrophy syndrome//brachydactyly due to absence of distal phalanges//deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome//deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome//deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome//deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome//deafness-onychoosteodystrophy-intellectual disability syndrome//digitorenocerebral syndrome//door syndrome//doors//drc syndrome//eronen syndrome//hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome//hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome//hearing loss-onychoosteodystrophy-intellectual disability syndrome	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0001685	0001685	220500	79500	C0795934	C563052	TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DOORS syndrome"	65
Autosomal dominant isolated somatotropin deficiency	autosomal dominant isolated growth hormone deficiency//autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency//congenital ighd type ii//congenital isolated gh deficiency type ii//congenital isolated growth hormone deficiency type ii//growth hormone deficiency, isolated, type ii//idiopathic growth hormone deficiency type ii//ighd ii//ighd2//isolated growth hormone deficiency - autosomal dominant//isolated growth hormone deficiency type ii//isolated growth hormone deficiency, type ii	GH1	GH1	https://raresource.nih.gov/literature/disease/0001696	0001696	173100	231679	C0271567	C562704	growth hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant isolated somatotropin deficiency"	33
Autosomal recessive nonsyndromic hearing loss 1A	connexin 26 deafness//deafness nonsyndromic, connexin 26 linked//deafness, autosomal recessive 1a//deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant//deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant//dfnb 1 nonsyndromic hearing loss and deafness//dfnb1a//gjb2-related autosomal recessive nonsyndromic hearing loss//gjb6-related dfnb 1 nonsyndromic hearing loss and deafness//nonsyndromic hearing loss and deafness, dfnb1	GJB2;GJB6;GJB3	GJB2;GJB6;GJB3	https://raresource.nih.gov/literature/disease/0001697	0001697	220290		C2673759	C567134	gap junction protein beta 2; gap junction protein beta 6; gap junction protein beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 1A"	10
Autosomal dominant nonsyndromic hearing loss 23	dfna23 nonsyndromic hearing loss and deafness	SIX1	SIX1	https://raresource.nih.gov/literature/disease/0001708	0001708	605192		C1854594	C565357	SIX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 23"	None
Dent disease type 1	clcn5 dent disease//dent disease 1, x-linked recessive//dent disease caused by mutation in clcn5//dent1//nephrolithiasis 2//nephrolithiasis type 1//nephrolithiasis, hypercalciuric, x-linked	CLCN5	CLCN5	https://raresource.nih.gov/literature/disease/0001804	0001804	300009	93622	C1848336		chloride voltage-gated channel 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dent disease type 1"	14
Denticles	anomalous dysplasia of dentin//dd-ii//dental pulp stone//dentin dyspalsia, shields type 2//dentin dysplasia type ii//dentin dysplasia, coronal//dentin dysplasia, shields type ii//dentin dysplasia, type ii//dtdp2//false denticles//false pulp stones//pulp calcification//pulp calcifications//pulp denticles//pulp stones//pulpal dysplasia//pulpoliths//true denticles//true pulp stones	DSPP	DSPP	https://raresource.nih.gov/literature/disease/0001806	0001806	125420	99791	C1527284		dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Denticles"	240
Dentin dysplasia type I	dd-i//dentin dysplasia, shields type i//dentin dysplasia, type 1//dentin dysplasia, type i, with microdontia and misshapen teeth//dentine dysplasia - shield's type i//dtdp1//radicular dentin dysplasia//radicular dentine dysplasia//rootless teeth	SMOC2	SMOC2	https://raresource.nih.gov/literature/disease/0001807	0001807	125400	99789	C0399379	C531665;C538215	SPARC related modular calcium binding 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentin dysplasia type I"	56
Desbuquois syndrome	dbqd//desbuquois dysplasia//micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	XYLT1;CSGALNACT1;CANT1	XYLT1;CSGALNACT1;CANT1	https://raresource.nih.gov/literature/disease/0001818	0001818		1425	C0432242		xylosyltransferase 1; chondroitin sulfate N-acetylgalactosaminyltransferase 1; calcium activated nucleotidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desbuquois syndrome"	61
Desmoid tumor	aggressive fibromatosis//deep fibromatosis//deep fibromatosis/desmoid tumor//deep fibromatosis/desmoid tumour//desmoid//desmoid fibromatosis//desmoid type fibromatosis//desmoid-type fibromatosis//invasive fibroma	APC	APC	https://raresource.nih.gov/literature/disease/0001820	0001820	135290	873	C0079218	D018222	APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmoid tumor"	2146
Diabetes mellitus, transient neonatal, 1	diabetes mellitus, 6q24-related transient neonatal//diabetes mellitus, transient neonatal, type 1//tndm//tndm1	PLAGL1;HYMAI;ZFP57	PLAGL1;HYMAI;ZFP57	https://raresource.nih.gov/literature/disease/0001839	0001839	601410	99886	C1832386	C563322	PLAG1 like zinc finger 1; hydatidiform mole associated and imprinted; ZFP57 zinc finger protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, transient neonatal, 1"	124
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	autoimmune enteropathy type 1//autoimmunity-immunodeficiency syndrome, x-linked//diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea//diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea//diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked//dmsd//enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy//iddm-secretory diarrhea syndrome//iddm-secretory diarrhoea syndrome//immune dysfunction and diarrhea syndrome//immune dysfunction and diarrhoea syndrome//immune dysregulation, polyendocrinopathy, and enteropathy x-linked syndrome//immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome//immunodeficiency, polyendocrinopathy, and enteropathy x-linked syndrome//immunodeficiency, polyendocrinopathy, and enteropathy, x-linked//immunodysregulation, polyendocrinopathy, and enteropathy, x-linked//immunodysregulation, polyendocrinopathy, and enteropathy, x-linked, x-linked recessive//ipex//ipex and ipex-like//x linked polyendocrinopathy//x-linked autoimmunity-allergic dysregulation syndrome//x-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome//x-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea//xlaad//xpid	FOXP3	FOXP3	https://raresource.nih.gov/literature/disease/0001850	0001850	304790	37042	C0342288	C580192	forkhead box P3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Insulin-dependent diabetes mellitus secretory diarrhea syndrome"	225
Dicarboxylic aminoaciduria	dcbxa//dicarboxylic aminoaciduria syndrome//glutamate aspartate transport defect//glutamate-aspartate transport defect	SLC1A1	SLC1A1	https://raresource.nih.gov/literature/disease/0001855	0001855	222730	2195	C1857253	C536171	solute carrier family 1 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dicarboxylic aminoaciduria"	787
Palmoplantar keratoderma, Bothnian type	autosomal dominant diffuse palmoplantar keratoderma, norrbotten type//diffuse palmoplantar keratoderma, bothnian type//neppk//non-epidermolytic palmoplantar keratoderma	AQP5	AQP5	https://raresource.nih.gov/literature/disease/0001862	0001862	600231	2337	C1838359		aquaporin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma, Bothnian type"	14
Deficiency of bisphosphoglycerate mutase	bpgm deficiency//deficiency of bisphosphoglycerate synthase//deficiency of diphosphoglycerate mutase//deficiency of glycerate phosphomutase//diphosphoglycerate mutase deficiency of erythrocyte//diphosphoglycerate phosphatase deficiency//dpgm deficiency//erythrocytosis, familial, 8//hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	BPGM	https://raresource.nih.gov/literature/disease/0001874	0001874	222800	714	C1291620		bisphosphoglycerate mutase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of bisphosphoglycerate mutase"	6
Myofibrillar myopathy 4	late-onset distal myopathy, markesbery-griggs type//ldb3 myofibrillar myopathy (disease)//myofibrillar myopathy (disease) caused by mutation in ldb3//myofibrillar myopathy type 4//myopathy, myofibrillar, type 4//zasp-related myofibrillar myopathy//zaspopathy//zaspopathy (type)	LDB3	LDB3	https://raresource.nih.gov/literature/disease/0001886	0001886	609452	98912	C4721886	C563718	LIM domain binding 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 4"	16
Distal myopathy with vocal cord weakness	distal myopathy 2//matr3-related distal myopathy//matrin 3 distal myopathy//myopathia distalis type 2//vcpdm//vcpdm - vocal cord and pharyngeal distal myopathy//vocal cord and pharyngeal distal myopathy//vocal cord and pharyngeal dysfunction with distal myopathy	MATR3	MATR3	https://raresource.nih.gov/literature/disease/0001887	0001887		600	C1853723		matrin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal myopathy with vocal cord weakness"	9
Donnai-Barrow syndrome	dbs/foar syndrome//diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria//diaphragmatic hernia-exomphalos-corpus callosum agenesis//diaphragmatic hernia-exomphalos-hypertelorism syndrome//diaphragmatic hernia-hypertelorism-myopia-deafness syndrome//diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome//facio-oculo-acoustico-renal syndrome//faciooculoacousticorenal syndrome//foar syndrome//holmes-schepens syndrome//syndrome of ocular and facial anomalies, telecanthus and deafness//syndrome of ocular and facial anomalies, telecanthus and hearing loss	LRP2	LRP2	https://raresource.nih.gov/literature/disease/0001899	0001899	222448	2143	C1857277	C536390	LDL receptor related protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Donnai-Barrow syndrome"	44
Autosomal recessive DOPA responsive dystonia	autosomal recessive infantile parkinsonism//dopa-responsive dystonia, autosomal recessive//dyt-th//dyt5b//segawa syndrome, autosomal recessive//segawa syndrome, recessive//th-deficient dopa-responsive dystonia//tyrosine hydroxylase-deficient dopa-responsive dystonia	TH	TH	https://raresource.nih.gov/literature/disease/0001902	0001902		101150	C2673535		tyrosine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive DOPA responsive dystonia"	9
Orthostatic hypotension 1	congenital dopamine beta-hydroxylase deficiency//dbh deficiency//dopamine beta-hydroxylase deficiency//noradrenaline deficiency//norepinephrine deficiency//orthostatic hypotension 1, due to dbh deficiency//orthyp1	DBH	DBH	https://raresource.nih.gov/literature/disease/0001903	0001903	223360	230	C4746777	C535600	dopamine beta-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orthostatic hypotension 1"	88
Subcortical band heterotopia	17-linked subcortical band heterotopia//band heterotopia//dc syndrome//dcx-related subcortical band heterotopia//double cortex syndrome//heco//heterotopic cortex//sbh//subcortical laminar heterotopia	DCX;EML1;PAFAH1B1	DCX;EML1;PAFAH1B1	https://raresource.nih.gov/literature/disease/0001904	0001904		99796	C1848201		doublecortin; EMAP like 1; platelet activating factor acetylhydrolase 1b regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Subcortical band heterotopia"	332
Doyne honeycomb retinal dystrophy	dhrd//dominant drusen//dominant radial drusen//doyne honeycomb degeneration of retina//doyne's honeycomb choroiditis//drusen, radial, autosomal dominant//familial drusen//hereditary dominant drusen retinal dystrophy//malattia leventinese	EFEMP1	EFEMP1	https://raresource.nih.gov/literature/disease/0001912	0001912	126600	75376	C1832174		EGF containing fibulin extracellular matrix protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Doyne honeycomb retinal dystrophy"	81
Dyschromatosis universalis hereditaria	duh//dyschromatosis universalis	ABCB6	ABCB6	https://raresource.nih.gov/literature/disease/0001996	0001996		241	C2930995	C535730	ATP binding cassette subfamily B member 6 (LAN blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyschromatosis universalis hereditaria"	89
Dysequilibrium syndrome	camrq//camrq syndrome//cerebellar ataxia, intellectual disability, and dysequilibrium//cerebellar ataxia, intellectual disability, dysequilibrium syndrome//cerebellar ataxia, mental retardation and dysequlibrium syndrome//cerebellar ataxia, mental retardation, and dysequilibrium//cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome//des - dysequilibrium syndrome//dialysis dysequilibrium syndrome//disequilibrium syndrome//non-progressive cerebellar ataxia, intellectual disability syndrome//non-progressive cerebellar ataxia-intellectual disability syndrome//uner tan syndrome//uts	WDR81;ATP8A2;CA8;TUBB2B;VLDLR	WDR81;ATP8A2;CA8;TUBB2B;VLDLR	https://raresource.nih.gov/literature/disease/0001998	0001998		1766	C0394006	C535731	WD repeat domain 81; ATPase phospholipid transporting 8A2; carbonic anhydrase 8; tubulin beta 2B class IIb; very low density lipoprotein receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysequilibrium syndrome"	219
Congenital dyserythropoietic anemia, type I	cda i//cda type 1//cda type i//congenital dyserythropoietic anemia type 1//dyserythropoietic anemia, congenital type 1	CDAN1;CDIN1	CDAN1;CDIN1	https://raresource.nih.gov/literature/disease/0002000	0002000		98869	C0271933		codanin 1; CDAN1 interacting nuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia, type I"	120
Congenital dyserythropoietic anemia, type II	cda ii//cda type 2//cda type ii//cdan2//congenital dyserythropoietic anemia type 2//dyserythropoietic anemia, congenital, type ii//dyserythropoietic anemia, hempas type//hempas - hereditary erythroblast multinuclearity with positive acid serum test//hereditary erythroblast multinuclearity with positive acid serum test//hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)//sec23b-cdg	SEC23B	SEC23B	https://raresource.nih.gov/literature/disease/0002001	0002001	224100	98873	C1306589		SEC23 homolog B, COPII coat complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia, type II"	176
Congenital dyserythropoietic anemia, type III	anemia with multinucleated erythroblasts//cda iii//cda type 3//cda type iii//cdan3a//congenital dyserythropoietic anemia type 3//dyserythropoietic anemia, congenital type 3//dyserythropoietic anemia, congenital, type iii//erythroreticulosis, hereditary benign	KIF23	KIF23	https://raresource.nih.gov/literature/disease/0002002	0002002	105600	98870	C5676874		kinesin family member 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia, type III"	31
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	dysferlinopathy//qualitative or quantitative defects of dysferlin	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0002003	0002003		207073	C2931687	C537995	dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disease caused by qualitative or quantitative defects of dysferlin"	365
Familial dysfibrinogenemia	congenital dysfibrinogenemia//dysfibrinogenemia//dysfibrinogenemia, congenital//hereditary dysfibrinogenemia//hypodysfibrinogenemia	FGG;FGA;FGB	FGG;FGA;FGB	https://raresource.nih.gov/literature/disease/0002004	0002004	616004	98881	C0272350		fibrinogen gamma chain; fibrinogen alpha chain; fibrinogen beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial dysfibrinogenemia"	511
Dyskeratosis congenita, X-linked	dkcx//dyskeratosis congenita, x-linked, x-linked recessive//hoyeraal hreidarsson syndrome//x-linked dyskeratosis congenita	DKC1	DKC1	https://raresource.nih.gov/literature/disease/0002007	0002007	305000		C1148551		dyskerin pseudouridine synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, X-linked"	169
Dysosteosclerosis		TCIRG1;SLC29A3;TNFRSF11A	TCIRG1;SLC29A3;TNFRSF11A	https://raresource.nih.gov/literature/disease/0002012	0002012	224300	1782	C0432262	C562973	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3; solute carrier family 29 member 3; TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysosteosclerosis"	52
Autosomal dominant Robinow syndrome 1	autosomal dominant robinow syndrome caused by mutation in wnt5a//costovertebral segmentation defect with mesomelia (formerly)//covesdem syndrome (formerly)//drs1//dysostosis acral with facial and genital abnormalities//robinow syndrome, autosomal dominant 1//wnt5a autosomal dominant robinow syndrome//wnt5a-related robinow syndrome, autosomal dominant	DVL1;WNT5A	DVL1;WNT5A	https://raresource.nih.gov/literature/disease/0002013	0002013			C4551475		dishevelled segment polarity protein 1; Wnt family member 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Robinow syndrome 1"	139
Lethal Kniest-like syndrome	ddsh//dyssegmental dysplasia//dyssegmental dysplasia silverman handmaker type//dyssegmental dysplasia, silverman-handmaker type//silverman-handmaker type dyssegmental dysplasia	HSPG2	HSPG2	https://raresource.nih.gov/literature/disease/0002026	0002026	224410	1865	C1857100	C537998	heparan sulfate proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal Kniest-like syndrome"	37
Early-onset generalized limb-onset dystonia	dystonia 1, modifier of//dystonia 1, torsion, autosomal dominant//dystonia musculorum deformans//dystonia musculorum deformans 1//dystonia-1, torsion//dyt-tor1a//dyt1//dyt1 early-onset primary dystonia//early onset primary dystonia//early onset torsion dystonia//early-onset generalised torsion dystonia//early-onset generalized torsion dystonia//early-onset isolated dystonia//early-onset primary dystonia//early-onset primary dystonia (dyt1)//early-onset torsion dystonia//eotd//idiopathic dystonia//idiopathic torsion dystonia//oppenheim dystonia//oppenheim's dystonia//torsion dystonia type 1	TOR1A	TOR1A	https://raresource.nih.gov/literature/disease/0002027	0002027	128100	256	C1851945	C538005	torsin family 1 member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset generalized limb-onset dystonia"	300
Torsion dystonia 2	autosomal recessive torsion dystonia 2//dystonic disorder caused by mutation in hpca//dyt2//hpca dystonic disorder//primary dystonia dyt2 type//primary dystonia type 2//primary dystonia, dyt2 type//torsion dystonia type 2	HPCA	HPCA	https://raresource.nih.gov/literature/disease/0002028	0002028	224500	99657	C1857093	C538006	hippocalcin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Torsion dystonia 2"	5
Meier-Gorlin syndrome	ear, patella, short stature syndrome//ear-patella-short stature syndrome//mgors1//microtia, absent patellae, micrognathia syndrome	CDC45;ORC4;CDT1;CDC6;GMNN;ORC6;ORC1	CDC45;ORC4;CDT1;CDC6;GMNN;ORC6;ORC1	https://raresource.nih.gov/literature/disease/0002033	0002033		2554	C1868684	C538012	cell division cycle 45; origin recognition complex subunit 4; chromatin licensing and DNA replication factor 1; cell division cycle 6; geminin DNA replication inhibitor; origin recognition complex subunit 6; origin recognition complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome"	85
Autosomal dominant hypohidrotic ectodermal dysplasia	ad-hed//autosomal dominant anhidrotic ectodermal dysplasia//autosomal dominant hypohidrotic ectodermal dysplasia syndrome//hypohidrotic ectodermal dysplasia, autosomal dominant	EDARADD;KDF1;TRAF6;EDAR	EDARADD;KDF1;TRAF6;EDAR	https://raresource.nih.gov/literature/disease/0002048	0002048		1810	C0265331		EDAR associated via death domain; keratinocyte differentiation factor 1; TNF receptor associated factor 6; ectodysplasin A receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypohidrotic ectodermal dysplasia"	48167
Hidrotic ectodermal dysplasia syndrome	autosomal dominant hidrotic ectodermal dysplasia//clouston hidrotic ectodermal dysplasia//clouston syndrome//clouston's hidrotic ectodermal dysplasia//clouston's syndrome//ectodermal dysplasia 2, clouston type//ectodermal dysplasia 2, hidrotic//gjb6//hidrotic ectodermal dysplasia	GJB6	GJB6	https://raresource.nih.gov/literature/disease/0002056	0002056	129500	189	C0162361		gap junction protein beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hidrotic ectodermal dysplasia syndrome"	26515
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	ar-hed//autosomal recessive anhidrotic ectodermal dysplasia//autosomal recessive hypohidrotic ectodermal dysplasia//hypohidrotic autosomal recessive ectodermal dysplasia//hypohidrotic ectodermal dysplasia, autosomal recessive	CSTB;EDAR;EDARADD;WNT10A	CSTB;EDAR;EDARADD;WNT10A	https://raresource.nih.gov/literature/disease/0002057	0002057		248	C0406702	D053360	cystatin B; ectodysplasin A receptor; EDAR associated via death domain; Wnt family member 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive hypohidrotic ectodermal dysplasia syndrome"	17
Ectopia lentis 2, isolated, autosomal recessive	ectol2//ectopia lentis, isolated, autosomal recessive	ADAMTSL4	ADAMTSL4	https://raresource.nih.gov/literature/disease/0002060	0002060	225100		C3541474		ADAMTS like 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectopia lentis 2, isolated, autosomal recessive"	None
Blepharocheilodontic syndrome	bcd syndrome//blepharo-cheilo-odontic syndrome//clefting, ectropion, and conical teeth//clefting, ectropion, conical teeth syndrome//clefting-ectropion-conical teeth syndrome//ectropion inferior-cleft lip and or palate syndrome//ectropion inferior-cleft lip and/or palate syndrome//ectropion, inferior, with cleft lip and/or palate//elsching syndrome//elschnig syndrome//lagophthalmia with bilateral cleft lip and palate//lagophthalmia-cleft lip and palate syndrome	CTNND1;CDH1	CTNND1;CDH1	https://raresource.nih.gov/literature/disease/0002071	0002071		1997	C1861536	C536188	catenin delta 1; cadherin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharocheilodontic syndrome"	23
Ectrodactyly-ectodermal dysplasia-clefting syndrome	ectodermal dysplasia with ectrodactyly and cleft lip or palate//ectrodactyly ectodermal dysplasia cleft lip/palate//ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome//ectrodactyly-cleft lip/palate syndrome//ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate//ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome//ectrodactyly-ectodermal dysplasia-cleft syndrome//ectrodactyly-ectodermal dysplasia-clefting (eec) syndrome//eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate//eec syndrome//rudiger syndrome//rudiger syndrome 1//rudiger's syndrome//walker-clodius syndrome	TP63	TP63	https://raresource.nih.gov/literature/disease/0002076	0002076		1896	C0406704	C536189	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectrodactyly-ectodermal dysplasia-clefting syndrome"	267
EEM syndrome	ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome//ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome//eem (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome//eems	CDH3	CDH3	https://raresource.nih.gov/literature/disease/0002078	0002078	225280	1897	C1857041	C536190	cadherin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EEM syndrome"	4707
Ehlers-Danlos syndrome, type 4	arterial-ecchymotic eds//eds iv//eds type 4//ehlers danlos syndrome, arterial type//ehlers danlos syndrome, ecchymotic type//ehlers danlos syndrome, sack-barabas type//ehlers-danlos syndrome arterial type e-d//ehlers-danlos syndrome ecchymotic type e-d//ehlers-danlos syndrome type iv//ehlers-danlos syndrome vascular type//ehlers-danlos syndrome, type iv//ehlers-danlos syndrome, vascular type//sack syndrome//sack-barabas syndrome//vascular eds//vascular ehlers-danlos syndrome//veds	TGFBR2;SMAD3;FBN1;EFEMP1;THSD4;TGFBR1;NPR3;ASPH;FKBP14;SLC2A10;TGFB2;IPO8;TGFB3;LTBP3;LOX;ABL1;FBN2;EMILIN1;SKI;BGN;PLOD1;NPR2;SMAD2;AEBP1;MFAP5;CBS;EFEMP2;PMEPA1;COL3A1	TGFBR2;SMAD3;FBN1;EFEMP1;THSD4;TGFBR1;NPR3;ASPH;FKBP14;SLC2A10;TGFB2;IPO8;TGFB3;LTBP3;LOX;ABL1;FBN2;EMILIN1;SKI;BGN;PLOD1;NPR2;SMAD2;AEBP1;MFAP5;CBS;EFEMP2;PMEPA1;COL3A1	https://raresource.nih.gov/literature/disease/0002082	0002082		286	C0268338	D000094623	transforming growth factor beta receptor 2; SMAD family member 3; fibrillin 1; EGF containing fibulin extracellular matrix protein 1; thrombospondin type 1 domain containing 4; transforming growth factor beta receptor 1; natriuretic peptide receptor 3; aspartate beta-hydroxylase; FKBP prolyl isomerase 14; solute carrier family 2 member 10; transforming growth factor beta 2; importin 8; transforming growth factor beta 3; latent transforming growth factor beta binding protein 3; lysyl oxidase; ABL proto-oncogene 1, non-receptor tyrosine kinase; fibrillin 2; elastin microfibril interfacer 1; SKI proto-oncogene; biglycan; procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; natriuretic peptide receptor 2; SMAD family member 2; AE binding protein 1; microfibril associated protein 5; cystathionine beta-synthase; EGF containing fibulin extracellular matrix protein 2; prostate transmembrane protein, androgen induced 1; collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, type 4"	782
Ehlers-Danlos syndrome, arthrochalasia type	aeds//arthrochalasia eds//arthrochalasia ehlers-danlos syndrome//arthrochalasis multiplex congenita//eds vii//eds vii, mutant procollagen type//eds viia//ehlers-danlos syndrome type 7//ehlers-danlos syndrome, arthrochalasia type, 1//ehlers-danlos syndrome, arthrochalasis type//ehlers-danlos syndrome, type vii	COL1A1	COL1A1	https://raresource.nih.gov/literature/disease/0002084	0002084		1899	C4551623	C562625	collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, arthrochalasia type"	121
Ehlers-Danlos syndrome, classic type	ceds//classical eds//classical ehlers-danlos syndrome//eds, classic type//ehlers-danlos syndrome classical type	COL5A1;COL5A2;COL1A1	COL5A1;COL5A2;COL1A1	https://raresource.nih.gov/literature/disease/0002088	0002088		287	C4225429		collagen type V alpha 1 chain; collagen type V alpha 2 chain; collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, classic type"	107
Ehlers-Danlos syndrome, dermatosparaxis type	deds//dermatosparaxis//dermatosparaxis eds//dermatosparaxis eds (ehlers-danlos syndrome)//dermatosparaxis ehlers-danlos syndrome//eds viic//ehlers-danlos syndrome type 7c//ehlers-danlos syndrome type viic//ehlers-danlos syndrome, type vii, autosomal recessive//human dermatosparaxis eds viic//human dermatosparaxis eds viic (ehlers-danlos syndrome type 7c)	ADAMTS2	ADAMTS2	https://raresource.nih.gov/literature/disease/0002089	0002089	225410	1901	C2700425	C567527	ADAM metallopeptidase with thrombospondin type 1 motif 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, dermatosparaxis type"	96
X-linked Emery-Dreifuss muscular dystrophy	emd-related emery-dreifuss muscular dystrophy, x-linked//emerinopathy//emery-dreifuss muscular dystrophy, x-linked//muscular dystrophy, tardive emery-dreifuss type, with contractures	FHL1;EMD	FHL1;EMD	https://raresource.nih.gov/literature/disease/0002102	0002102		98863	C0751337	D000083143	four and a half LIM domains 1; emerin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Emery-Dreifuss muscular dystrophy"	91
Encephalocraniocutaneous lipomatosis	eccl//eccl - encephalocraniocutaneous lipomatosis//encephalocraniocutaneous lipomatosis, somatic mosaic//fishman syndrome//haberland syndrome	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0002108	0002108	613001	2396	C0406612	C535736	fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalocraniocutaneous lipomatosis"	3938
Glycogen storage disease due to muscle beta-enolase deficiency	enolase 3 deficiency//enolase-beta deficiency//glycogen storage disease type 13//glycogen storage disease type xiii//glycogenosis due to muscle beta-enolase deficiency//glycogenosis type 13//gsd due to muscle beta-enolase deficiency//gsd xiii//gsd13//gsdxiii//muscle enolase deficiency//muscular enolase deficiency	ENO3	ENO3	https://raresource.nih.gov/literature/disease/0002125	0002125	612932	99849	C2752027	C567861	enolase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle beta-enolase deficiency"	6
Epidermolysis bullosa simplex 5B, with muscular dystrophy	ebs with muscular dystrophy//ebs-md//ebs5b//epidermolysis bullosa simplex and limb-girdle muscular dystrophy//epidermolysis bullosa simplex with muscular dystrophy//limb girdle muscular dystrophy with epidermolysis bullosa simplex//limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0002137	0002137	226670	257	C2931072	C535955	plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 5B, with muscular dystrophy"	35
Generalized dominant dystrophic epidermolysis bullosa	albopapuloid dystrophic epidermolysis bullosa of pasini//autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types//autosomal dominant generalized dystrophic epidermolysis bullosa//ddeb//ddeb (dominant dystrophic epidermolysis bullosa) intermediate//ddeb, generalised//ddeb, generalized//ddeb, pasini and cockayne-touraine types//ddeb-gen//dominant dystrophic epidermolysis bullosa of pasini//dominant dystrophic epidermolysis bullosa, albopapular type//dystrophic epidermolysis bullosa, autosomal dominant//epidermolysis bullosa dystrophica, ad//epidermolysis bullosa dystrophica, autosomal dominant//epidermolysis bullosa dystrophica, pasini type//generalized ddeb//generalized ddeb (generalized dystrophic epidermolysis bullosa)	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0002139	0002139	131750	231568	C0432322		collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized dominant dystrophic epidermolysis bullosa"	63
Epidermolysis bullosa simplex 1A, generalized severe	autosomal dominant generalized ebs, severe form//autosomal dominant generalized epidermolysis bullosa simplex, severe form//dowling-meara epidermolysis bullosa//ebs, generalised severe//ebs, generalized severe//ebs-gen sev//ebs1a//ebsdm//epidermolysis bullosa herpetiformis dowling-meara type//epidermolysis bullosa simplex dowling-meara type//epidermolysis bullosa simplex herpetiformis//epidermolysis bullosa simplex, dowling-meara type//epidermolysis bullosa simplex, herpetiformis//generalised severe epidermolysis bullosa simplex//generalized severe epidermolysis bullosa simplex//simplex epidermolysis bullosa herpetiformis	KRT14;KRT5	KRT14;KRT5	https://raresource.nih.gov/literature/disease/0002141	0002141	131760	79396	C0079295		keratin 14; keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 1A, generalized severe"	11
Epidermolysis bullosa simplex 1C, localized	debs-wc//dominant epidermolysis bullosa simplex, weber-cockayne type//ebs, acral form//ebs-loc//epidermolysis bullosa of hands and feet//epidermolysis bullosa simplex of palms and soles//epidermolysis bullosa simplex of the hands and/or feet//epidermolysis bullosa simplex, weber-cockayne type//localised epidermolysis bullosa simplex//localized ebs//localized epidermolysis bullosa simplex//weber-cockayne syndrome	KRT14	KRT14	https://raresource.nih.gov/literature/disease/0002146	0002146	131800	79400	C0080333		keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 1C, localized"	9
Epidermolysis bullosa simplex, Koebner type	autosomal dominant generalized ebs, intermediate form//autosomal dominant generalized epidermolysis bullosa simplex, intermediate form//ebs, generalised intermediate//ebs, generalized intermediate//epidermolysis bullosa simplex 1b, generalized intermediate//epidermolysis bullosa simplex, kobner type//epidermolysis bullosa simplex, köbner type//epidermolysis bullosa simplex, other generalized//generalised ebs, non-dowling-meara type//generalised epidermolysis bullosa simplex, non-dowling-meara type//generalized ebs, non-dowling-meara type//generalized epidermolysis bullosa simplex, non-dowling-meara type	KRT14	KRT14	https://raresource.nih.gov/literature/disease/0002147	0002147	131900	79399	C5561924		keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex, Koebner type"	2
Epidermolysis bullosa simplex, Ogna type	ebs-o//ebs-og//ebs5a//ebsog//epidermolysis bullosa simplex 5a, ogna type//epidermolysis bullosa simplex of ogna//pidermolysis bullosa simplex 5a, ogna type//plec-related intermediate ebs without extracutaneous involvement//plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0002148	0002148	131950	79401	C0432317	C535962	plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex, Ogna type"	None
Junctional epidermolysis bullosa gravis of Herlitz	epidermolysis bullosa junctionalis, herlitz type//epidermolysis bullosa letalis//epidermolysis bullosa, junctional 1b, severe//epidermolysis bullosa, junctional, herlitz-pearson type//herlitz syndrome//herlitz type epidermolysis bullosa junctionalis//herlitz's disease//herlitz-pearson-type epidermolysis bullosa//herlitz-type junctional epidermolysis bullosa//jeb, generalised severe//jeb, generalized severe//jeb-h//jeb-herlitz type//junctional epidermolysis bullosa generalisata gravis//junctional epidermolysis bullosa herlitz type//junctional epidermolysis bullosa, herlitz type//junctional epidermolysis bullosa, herlitz-pearson type//junctional epidermolysis bullosa, lethal type, herlitz//severe generalized jeb//severe generalized junctional epidermolysis bullosa	LAMB3;LAMA3;LAMC2	LAMB3;LAMA3;LAMC2	https://raresource.nih.gov/literature/disease/0002153	0002153	226700	79404	C0079683		laminin subunit beta 3; laminin subunit alpha 3; laminin subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Junctional epidermolysis bullosa gravis of Herlitz"	4712
Pretibial dystrophic epidermolysis bullosa	deb-pt//epidermolysis bullosa dystrophica, pretibial//localized deb, pretibial form//localized dystrophic epidermolysis bullosa, pretibial form//pretibial blistering//pretibial deb//pretibial epidermolysis bullosa	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0002155	0002155	131850	79410	C0432321	C535494	collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pretibial dystrophic epidermolysis bullosa"	960
Juvenile absence epilepsy	jae//jae - juvenile absence epilepsy	EFHC1	EFHC1	https://raresource.nih.gov/literature/disease/0002162	0002162	607631	1941	C4317339		EF-hand domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile absence epilepsy"	195
Progressive myoclonic epilepsy type 3	ceroid lipofuscinosis, neuronal, 14//cln14 disease//epilepsy, progressive myoclonic 3, with or without intracellular inclusions//epilepsy, progressive myoclonic, 3, with or without intracellular inclusions//epilepsy, progressive myoclonic, 3, without intracellular inclusions//epm3//kctd7 progressive myoclonic epilepsy//pme (progressive myoclonic epilepsy) type 3//pme type 3//progressive myoclonic epilepsy caused by mutation in kctd7//progressive myoclonic epilepsy due to kctd7 deficiency//progressive myoclonus epilepsy type 3	KCTD7	KCTD7	https://raresource.nih.gov/literature/disease/0002167	0002167	611726	263516	C2673257	C567095	potassium channel tetramerization domain containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 3"	1
Multiple epiphyseal dysplasia type 1	comp multiple epiphyseal dysplasia (disease)//comp-related multiple epiphyseal dysplasia//edm1//epiphyseal dysplasia, multiple, type 1//med1//multiple epiphyseal dysplasia (disease) caused by mutation in comp//polyepiphyseal dysplasia type 1	COMP	COMP	https://raresource.nih.gov/literature/disease/0002180	0002180	132400	93308	C1838280		cartilage oligomeric matrix protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia type 1"	17
Complement component 5 deficiency	c5 complement deficiency//c5 deficiency//complement 5 dysfunction//complement deficiency caused by mutation in c5	C5	C5	https://raresource.nih.gov/literature/disease/0002191	0002191	609536		C0343047		complement C5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 5 deficiency"	76
Ethylmalonic encephalopathy	ee//encephalopathy, petechiae, and ethylmalonic aciduria//epema syndrome//syndrome of encephalopathy, petechiae, and ethylmalonic aciduria	ETHE1	ETHE1	https://raresource.nih.gov/literature/disease/0002198	0002198	602473	51188	C1865349	C535737	ETHE1 persulfide dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ethylmalonic encephalopathy"	1189
Exostoses, multiple, type 1	exostoses, multiple caused by mutation in ext1//exostoses, multiple, type i//ext1//ext1 exostoses, multiple//hereditary multiple osteochondromatosis, type i	EXT1	EXT1	https://raresource.nih.gov/literature/disease/0002204	0002204			CN263289		exostosin glycosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exostoses, multiple, type 1"	2
Exostoses, multiple, type 2	exostoses (multiple) 2 gene//exostoses, multiple caused by mutation in ext2//exostoses, multiple, type ii//ext2//ext2 exostoses, multiple//ext2 gene//hereditary multiple osteochondromatosis, type ii	EXT2	EXT2	https://raresource.nih.gov/literature/disease/0002205	0002205	133701		C1851413		exostosin glycosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exostoses, multiple, type 2"	1
Congenital factor V deficiency	ac globulin deficiency//deficiency, labile//hereditary factor v deficiency//hereditary factor v deficiency disease//hereditary hypoproaccelerinaemia//hereditary hypoproaccelerinemia//labile factor deficiency//owren disease//owren parahemophilia//owren's disease//parahemophilia//proaccelerin deficiency	F5	F5	https://raresource.nih.gov/literature/disease/0002237	0002237	227400	326	C0015499	D005166	coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor V deficiency"	152
Congenital factor VII deficiency	congenital proconvertin deficiency//hereditary factor vii deficiency disease//hereditary factor vii deficiency syndrome//hereditary hypoproconvertinemia	F7	F7	https://raresource.nih.gov/literature/disease/0002238	0002238		327	C0272320		coagulation factor VII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor VII deficiency"	205
Tetralogy of Fallot	fallot's tetralogy//subpulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy//tetrology of fallot//tof//tof - tetralogy of fallot//ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	COL3A1;MED13L;GLIS1;SHROOM3;LEFTY2;ELN;MYH7;NONO;BRAF;SOS1;TBX5;ACTC1;ALDH1A2;KAT6B;GATA4;GDF1;KDR;KMT2A;PLD1;SMARCA4;TBX1;ZIC3;GATA5;ODAD1;FBN2;TLL1;MUC16;TAB2;CHD4;DZIP1;MCTP2;NKX2-6;GATA6;JAG1;TAF1;CRIPTO;CFAP45;TMEM260;SMAD6;KMT2D;MYH6;MYRF;DCHS1;NSD1;ROBO4;PKD1L1;CITED2;CHD7;EHMT1;CFAP53;NAA15;DYRK1A;FLNA;FOXL1;HEY2;ABL1;NOTCH2;PRKD1;TBX20;TFAP2B;TNS1;TSC1;CACNA1C;ADNP;ZFPM2;CTNND1;FOXH1;HAND1;LMCD1;MYH11;PTPN11;RAF1;RBFOX2;MMP21;ANKRD1;SOX7;NKX2-5;FBN1;KRAS;NF1;NOTCH1;GJA5;NODAL;NR2F2;PLXND1;SRF;CRELD1;ACVR2B;CFC1;PPP1R13L;ANKRD11;GLYR1;FLT4;FOXJ1;HAND2	COL3A1;MED13L;GLIS1;SHROOM3;LEFTY2;ELN;MYH7;NONO;BRAF;SOS1;TBX5;ACTC1;ALDH1A2;KAT6B;GATA4;GDF1;KDR;KMT2A;PLD1;SMARCA4;TBX1;ZIC3;GATA5;ODAD1;FBN2;TLL1;MUC16;TAB2;CHD4;DZIP1;MCTP2;NKX2-6;GATA6;JAG1;TAF1;CRIPTO;CFAP45;TMEM260;SMAD6;KMT2D;MYH6;MYRF;DCHS1;NSD1;ROBO4;PKD1L1;CITED2;CHD7;EHMT1;CFAP53;NAA15;DYRK1A;FLNA;FOXL1;HEY2;ABL1;NOTCH2;PRKD1;TBX20;TFAP2B;TNS1;TSC1;CACNA1C;ADNP;ZFPM2;CTNND1;FOXH1;HAND1;LMCD1;MYH11;PTPN11;RAF1;RBFOX2;MMP21;ANKRD1;SOX7;NKX2-5;FBN1;KRAS;NF1;NOTCH1;GJA5;NODAL;NR2F2;PLXND1;SRF;CRELD1;ACVR2B;CFC1;PPP1R13L;ANKRD11;GLYR1;FLT4;FOXJ1;HAND2	https://raresource.nih.gov/literature/disease/0002245	0002245	187500	3303	C0039685	D013771	collagen type III alpha 1 chain; mediator complex subunit 13L; GLIS family zinc finger 1; shroom family member 3; left-right determination factor 2; elastin; myosin heavy chain 7; non-POU domain containing octamer binding; B-Raf proto-oncogene, serine/threonine kinase; SOS Ras/Rac guanine nucleotide exchange factor 1; T-box transcription factor 5; actin alpha cardiac muscle 1; aldehyde dehydrogenase 1 family member A2; lysine acetyltransferase 6B; GATA binding protein 4; growth differentiation factor 1; kinase insert domain receptor; lysine methyltransferase 2A; phospholipase D1; SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4; T-box transcription factor 1; Zic family member 3; GATA binding protein 5; outer dynein arm docking complex subunit 1; fibrillin 2; tolloid like 1; mucin 16, cell surface associated; TGF-beta activated kinase 1 (MAP3K7) binding protein 2; chromodomain helicase DNA binding protein 4; DAZ interacting zinc finger protein 1; multiple C2 and transmembrane domain containing 2; NK2 homeobox 6; GATA binding protein 6; jagged canonical Notch ligand 1; TATA-box binding protein associated factor 1; cripto, EGF-CFC family member; cilia and flagella associated protein 45; transmembrane protein 260; SMAD family member 6; lysine methyltransferase 2D; myosin heavy chain 6; myelin regulatory factor; dachsous cadherin-related 1; nuclear receptor binding SET domain protein 1; roundabout guidance receptor 4; polycystin 1 like 1, transient receptor potential channel interacting; Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2; chromodomain helicase DNA binding protein 7; euchromatic histone lysine methyltransferase 1; cilia and flagella associated protein 53; N-alpha-acetyltransferase 15, NatA auxiliary subunit; dual specificity tyrosine phosphorylation regulated kinase 1A; filamin A; forkhead box L1; hes related family bHLH transcription factor with YRPW motif 2; ABL proto-oncogene 1, non-receptor tyrosine kinase; notch receptor 2; protein kinase D1; T-box transcription factor 20; transcription factor AP-2 beta; tensin 1; TSC complex subunit 1; calcium voltage-gated channel subunit alpha1 C; activity dependent neuroprotector homeobox; zinc finger protein, FOG family member 2; catenin delta 1; forkhead box H1; heart and neural crest derivatives expressed 1; LIM and cysteine rich domains 1; myosin heavy chain 11; protein tyrosine phosphatase non-receptor type 11; Raf-1 proto-oncogene, serine/threonine kinase; RNA binding fox-1 homolog 2; matrix metallopeptidase 21; ankyrin repeat domain 1; SRY-box transcription factor 7; NK2 homeobox 5; fibrillin 1; KRAS proto-oncogene, GTPase; neurofibromin 1; notch receptor 1; gap junction protein alpha 5; nodal growth differentiation factor; nuclear receptor subfamily 2 group F member 2; plexin D1; serum response factor; cysteine rich with EGF like domains 1; activin A receptor type 2B; cryptic, EGF-CFC family member 1; protein phosphatase 1 regulatory subunit 13 like; ankyrin repeat domain containing 11; glyoxylate reductase 1 homolog; fms related receptor tyrosine kinase 4; forkhead box J1; heart and neural crest derivatives expressed 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetralogy of Fallot"	11126
Familial thoracic aortic aneurysm and aortic dissection	erdheim disease//familial aortic dissection//familial non-syndromic taad//familial non-syndromic thoracic aortic aneurysm and aortic dissection//familial taad//familial taad (thoracic aortic aneurysm aortic dissection)//ftaad//nonsyndromic familial thoracic aortic aneurysm and dissection//nonsyndromic heritable thoracic aortic disease//nonsyndromic htad//ns-ftaad//nshtad//taad//thoracic aortic aneurysm and aortic dissection//thoracic aortic aneurysms and dissections	EFEMP2;TGFBR2;TGFB3;TGFB2;SMAD2;THSD4;SMAD3;FBN1;LOX;MFAP5;ACTA2;PRKG1;HEY2;MYLK;MYH11;SMAD4;FOXE3;TGFBR1	EFEMP2;TGFBR2;TGFB3;TGFB2;SMAD2;THSD4;SMAD3;FBN1;LOX;MFAP5;ACTA2;PRKG1;HEY2;MYLK;MYH11;SMAD4;FOXE3;TGFBR1	https://raresource.nih.gov/literature/disease/0002249	0002249		91387	C4707243		EGF containing fibulin extracellular matrix protein 2; transforming growth factor beta receptor 2; transforming growth factor beta 3; transforming growth factor beta 2; SMAD family member 2; thrombospondin type 1 domain containing 4; SMAD family member 3; fibrillin 1; lysyl oxidase; microfibril associated protein 5; actin alpha 2, smooth muscle; protein kinase cGMP-dependent 1; hes related family bHLH transcription factor with YRPW motif 2; myosin light chain kinase; myosin heavy chain 11; SMAD family member 4; forkhead box E3; transforming growth factor beta receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial thoracic aortic aneurysm and aortic dissection"	629
Band heterotopia of brain		EML1	EML1	https://raresource.nih.gov/literature/disease/0002250	0002250	600348		C4284594	C563950	EMAP like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Band heterotopia of brain"	422
Autosomal dominant epilepsy with auditory features	adeaf//adlte//adolescent/adult onset autosomal dominant epilepsy with auditory features//adpeaf//autosomal dominant lateral temporal lobe epilepsy//autosomal dominant partial/lateral temporal epilepsy with auditory features//familial epilepsy with auditory features//feaf - familial epilepsy with auditory features//partial epilepsy with auditory aura//partial epilepsy with auditory features	LGI1;DEPDC5;RELN	LGI1;DEPDC5;RELN	https://raresource.nih.gov/literature/disease/0002257	0002257		101046	C1838062	C537297	leucine rich glioma inactivated 1; DEP domain containing 5, GATOR1 subcomplex subunit; reelin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant epilepsy with auditory features"	192
Familial porencephaly	familial porencephalic cyst//hereditary porencephaly	COLGALT1;COL4A2;COL4A1	COLGALT1;COL4A2;COL4A1	https://raresource.nih.gov/literature/disease/0002258	0002258		99810	C1867983		collagen beta(1-O)galactosyltransferase 1; collagen type IV alpha 2 chain; collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial porencephaly"	4381
Familial ventricular tachycardia	hereditary ventricular tachycardia//ventricular tachycardia, familial//ventricular tachycardia, familial polymorphic//ventricular tachycardia, idiopathic	GNAI2	GNAI2	https://raresource.nih.gov/literature/disease/0002263	0002263	192605		C0340485		G protein subunit alpha i2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial ventricular tachycardia"	4241
Fanconi-Bickel syndrome	bickel-fanconi glycogenosis//fanconi syndrome with intestinal malabsorption and galactose intolerance//fanconi-bickel disease//fbs//glycogen storage disease due to glut2 deficiency//glycogenosis due to glut2 deficiency//gsd due to glut2 deficiency//hepatic glycogenosis with amino aciduria and glucosuria//hepatic glycogenosis with fanconi nephropathy//hepatorenal glycogenosis with renal fanconi syndrome//pseudo-phlorizin diabetes	SLC2A2	SLC2A2	https://raresource.nih.gov/literature/disease/0002268	0002268	227810	2088	C3495427		solute carrier family 2 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi-Bickel syndrome"	292
FG syndrome 1	fg syndrome caused by mutation in med12//fg syndrome type 1//keller syndrome//med12 fg syndrome//mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum//oks//opitz kaveggia syndrome//opitz-kaveggia syndrome//opitz-kaveggia syndrome, x-linked recessive	MED12	MED12	https://raresource.nih.gov/literature/disease/0002317	0002317	305450	93932	C5399762		mediator complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FG syndrome 1"	31
Fibrochondrogenesis		COL11A2;COL11A1	COL11A2;COL11A1	https://raresource.nih.gov/literature/disease/0002321	0002321		2021	C0265282	C562524	collagen type XI alpha 2 chain; collagen type XI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrochondrogenesis"	29
Birt-Hogg-Dube syndrome 1	bhd1//fibrofolliculomas with trichodiscomas and acrochordons//hornstein-knickenberg syndrome	FLCN	FLCN	https://raresource.nih.gov/literature/disease/0002322	0002322	135150	122	CN375946	D058249	folliculin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Birt-Hogg-Dube syndrome 1"	8032
Gingival fibromatosis-hypertrichosis syndrome	cght//congenital generalised hypertrichosis terminalis//congenital generalized hypertrichosis terminalis//hirsutism-congenital gingival hyperplasia syndrome//hypertrichosis with acromegaloid facial features//hypertrichosis with or without gingival hyperplasia//hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia//hypertrichosis, congenital generalized, with gingival hyperplasia	ABCA5	ABCA5	https://raresource.nih.gov/literature/disease/0002324	0002324	135400	2026	C1851120	C565016	ATP binding cassette subfamily A member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gingival fibromatosis-hypertrichosis syndrome"	11
Basan syndrome	absence of dermatoglyphics congenital milia//absence of dermatoglyphics-congenital milia syndrome//absence of fingerprints congenital milia//absence of fingerprints-congenital milia syndrome//baird syndrome//basan-baird syndrome//ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease	SMARCAD1	SMARCAD1	https://raresource.nih.gov/literature/disease/0002336	0002336	129200	1658	C0406707	C537659	SNF2 related chromatin remodeling ATPase with DExD box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basan syndrome"	10
Finnish type amyloidosis	agel amyloidosis//amyloid cranial neuropathy with lattice corneal dystrophy//amyloidosis 5//amyloidosis due to mutant gelsolin//amyloidosis v//amyloidosis, familial, finnish type//amyloidosis, hereditary systemic 4, finnish type//amyloidosis, meretoja type//familial amyloid polyneuropathy type iv//familial amyloidosis, finnish type//gelsolin amyloidosis//hereditary amyloidosis, finnish type//lattice corneal dystrophy associated with familial systemic amyloidosis//lattice dystrophy of the cornea with hereditary generalized amyloidosis//meretoja syndrome//meretoja type amyloidosis//meretoja's syndrome	GSN	GSN	https://raresource.nih.gov/literature/disease/0002339	0002339	105120	85448	C1622345	C537459	gelsolin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Finnish type amyloidosis"	115
Cardiospondylocarpofacial syndrome	cscf//forney robinson pascoe syndrome//forney syndrome//forney-robinson-pascoe syndrome//mitral regurgitation with deafness and skeletal anomalies syndrome//mitral regurgitation-deafness-skeletal anomalies syndrome//mitral regurgitation-hearing loss-skeletal anomalies syndrome	MAP3K7	MAP3K7	https://raresource.nih.gov/literature/disease/0002362	0002362	157800	3238	C2931461	C563572	mitogen-activated protein kinase kinase kinase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiospondylocarpofacial syndrome"	18
Frasier syndrome	frasier syndrome, autosomal dominant, somatic mutation	WT1	WT1	https://raresource.nih.gov/literature/disease/0002375	0002375	136680	347	C0950122	D052159	WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frasier syndrome"	134
FRAXE	fragile xe syndrome//fraxe intellectual disability//fraxe syndrome//intellectual developmental disorder, x-linked 109//intellectual developmental disorder, x-linked 109, x-linked recessive//intellectual disability associated with fragile site fraxe//intellectual disability, x-linked, fraxe type	AFF2	AFF2	https://raresource.nih.gov/literature/disease/0002378	0002378	309548	100973	C0751157		ALF transcription elongation factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FRAXE"	25
Fructose-biphosphatase deficiency	fbp1d//fbpase deficiency//fructose 1 phosphate aldolase deficiency//fructose 1,6 bisphosphatase deficiency//fructose-1,6-bisphosphatase deficiency//fructose-1,6-diphosphatase deficiency//hereditary fructose-1,6-phosphatase deficiency	FBP1	FBP1	https://raresource.nih.gov/literature/disease/0002400	0002400	229700	348	C0016756	D015319	fructose-bisphosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fructose-biphosphatase deficiency"	125
Fuhrmann syndrome	fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly//fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome//fuhrmann rieger de sousa syndrome//fuhrmann-rieger-de sousa syndrome	WNT7A	WNT7A	https://raresource.nih.gov/literature/disease/0002410	0002410	228930	2854	C1856728	C538189	Wnt family member 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fuhrmann syndrome"	14
Deficiency of galactokinase	galactokinase deficiency//galactokinase deficiency galactosemia//galactokinase deficiency with cataracts//galactosemia - galactokinase deficiency//galactosemia ii//galactosemia type 2//galk (galactokinase) deficiency//galk deficiency//galk-d	GALK1	GALK1	https://raresource.nih.gov/literature/disease/0002422	0002422	230200	79237	C0268155		galactokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of galactokinase"	92
Cystathioninuria	cth - cystathioninuria//cystathionase deficiency//cystathione gamma-lyase deficiency syndrome//cystathionine gamma-lyase deficiency syndrome//cystathioninuria (disease)//gamma-cystathionase deficiency//high urine cystathionine levels	CTH	CTH	https://raresource.nih.gov/literature/disease/0002428	0002428	219500	212	C0220993		cystathionine gamma-lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystathioninuria"	104
Autosomal recessive limb-girdle muscular dystrophy type 2C	autosomal recessive duchenne-like muscular dystrophy type 1//autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcg//deficiency of sarcoglycan gamma//dmda1//gamma-sarcoglycan-related lgmd r5//gamma-sarcoglycan-related limb-girdle muscular dystrophy r5//gamma-sarcoglycanopathy//lgmd due to gamma-sarcoglycan deficiency//lgmd type 2c//lgmd2c//lgmdr5//limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2c//maghrebian myopathy//muscular dystrophy, duchenne-like//muscular dystrophy, limb-girdle, autosomal recessive 5//muscular dystrophy, limb-girdle, type 2c//scarmd//severe childhood autosomal recessive muscular dystrophy north african type//sgcg autosomal recessive limb-girdle muscular dystrophy	SGCG	SGCG	https://raresource.nih.gov/literature/disease/0002429	0002429	253700	353	C0410173	C535900	sarcoglycan gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2C"	112
GM1 gangliosidosis type 3	adult gm1 gangliosidosis//adult-onset gm1 gangliosidosis//gangliosidosis, generalized gm1, adult type//gangliosidosis, generalized gm1, chronic type//gangliosidosis, generalized gm1, type 3//gangliosidosis, generalized gm1, type iii//gm1 gangliosidosis type iii//gm1-gangliosidosis, type iii//type 3 (adult) gm1 gangliosidosis	GLB1	GLB1	https://raresource.nih.gov/literature/disease/0002431	0002431	230650	79257	C0268273		galactosidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GM1 gangliosidosis type 3"	13
Gaucher disease type I	gaucher disease type 1//gaucher disease, noncerebral juvenile//gaucher's disease type i//gaucher's disease, type 1//gaucher's disease, type i//gba deficiency//gd 1//gd i//gd1//glucocerebrosidase deficiency type i//non-cerebral juvenile gaucher disease//noncerebral juvenile gaucher's disease	GBA1	GBA1	https://raresource.nih.gov/literature/disease/0002441	0002441	230800	77259	C1961835		glucosylceramidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease type I"	376
Gaucher disease type II	acute cerebral gaucher's disease//acute neuronopathic gaucher disease//acute neuronopathic gaucher's disease//cerebral acute gaucher disease//gaucher disease type 2//gaucher disease type 2 (acute)//gaucher disease, acute neuronopathic type//gaucher's disease type ii//gaucher's disease, type ii//gd ii//gd2//glucocerebrosidase deficiency type ii//glucosylceramidase deficiency, acute type//infantile cerebral gaucher disease//infantile cerebral gaucher's disease//infantile gaucher disease//infantile gaucher's disease	GBA1	GBA1	https://raresource.nih.gov/literature/disease/0002442	0002442	230900	77260	C0268250		glucosylceramidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease type II"	65
Gaucher disease type III	cerebral juvenile and adult form of gaucher disease//chronic neuronopathic gaucher disease//gaucher disease type 3//gaucher disease type 3 (subacute/chronic)//gaucher disease, chronic neuronopathic type//gaucher disease, juvenile and adult, cerebral//gaucher disease, subacute neuronopathic type//gaucher disease, type 3//gaucher's disease type iii//gaucher's disease, type iii//gd iii//glucocerebrosidase deficiency type iii//glucosylceramidase deficiency, subacute type//juvenile gaucher disease//juvenile gaucher's disease//norrbottnian gaucher disease//subacute neuronopathic gaucher disease//subacute neuronopathic gaucher's disease	GBA1	GBA1	https://raresource.nih.gov/literature/disease/0002443	0002443	231000	77261	C0268251		glucosylceramidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease type III"	74
Geleophysic dysplasia	geleophysic dwarfism//geleophysic dwarfism syndrome	ADAMTSL2;LTBP3;FBN1	ADAMTSL2;LTBP3;FBN1	https://raresource.nih.gov/literature/disease/0002449	0002449		2623	C3489726		ADAMTS like 2; latent transforming growth factor beta binding protein 3; fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geleophysic dysplasia"	73
Weill-Marchesani syndrome 2, dominant	fbn1-related weill-marchesani syndrome//gemss//gemss syndrome//glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome//glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome//glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome//weill-marchesani syndrome 2//weill-marchesani syndrome type 2//weill-marchesani syndrome, autosomal dominant//wms2	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0002452	0002452	608328	2084	C1869115		fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weill-Marchesani syndrome 2, dominant"	5
Large congenital melanocytic nevus	bathing trunk nevus//cmns//congenital giant melanocytic nevus//congenital giant pigmented nevus//congenital melanocytic nevi//congenital melanocytic nevus//congenital melanocytic nevus - large//congenital melanocytic nevus of skin//congenital melanocytic nevus of the skin//congenital nevus of skin//congenital nevus of the skin//congenital pigmented melanocytic nevus//congenital pigmented nevus//congenital pigmented nevus of skin//congenital pigmented nevus of the skin//congenital pigmented skin nevus//congenital skin nevus//gcmn - giant congenital melanocytic nevus//giant congenital melanocytic nevus//giant congenital nevus//giant hairy nevus//giant pigmented hairy nevus//giant pigmented mole//giant pigmented nevus//giant pigmented nevus of skin//giant pigmented nevus of the skin//gmn//intermediate and giant congenital nevus//large congenital pigmented melanocytic nevus of skin//lcmn//lcmn - large congenital melanocytic nevus//melanocytic nevus syndrome, congenital, somatic//pigmented moles//spitz nevus or nevus spilus, somatic	HRAS;NRAS	HRAS;NRAS	https://raresource.nih.gov/literature/disease/0002469	0002469	137550	626	C1842036		HRas proto-oncogene, GTPase; NRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Large congenital melanocytic nevus"	995
Bernard Soulier syndrome	bernard - soulier thrombopathy//bernard-soulier syndrome, type a1 (recessive)//bleeding disorder, platelet-type, 1//bss//giant platelet disease//giant platelet disorder, isolated//giant platelet syndrome//glycoprotein ib, platelet, deficiency of//hemorrhagic dystrophic thrombocytopenia//hemorrhagiparous thrombocytic dystrophy//platelet glycoprotein 1b, deficiency of//platelet glycoprotein ib deficiency//thrombopathy, bernard-soulier//von willebrand factor receptor deficiency	GP9;GP1BA;GP1BB	GP9;GP1BA;GP1BB	https://raresource.nih.gov/literature/disease/0002470	0002470	231200	274	C0005129	D001606	glycoprotein IX platelet; glycoprotein Ib platelet subunit alpha; glycoprotein Ib platelet subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bernard Soulier syndrome"	973
Glanzmann thrombasthenia	bleeding disorder, platelet-type, 2//glanzmann thromboasthenia//glanzmann's disease//glanzmann's syndrome//glanzmann's thrombasthenia//glanzmann-naegeli disorder//hereditary hemorrhagic thrombasthenia//hereditary thromboasthenia//platelet glycoprotein iib-iiia deficiency//thrombasthenia//thrombasthenia of glanzmann and naegeli//thrombasthenia of glanzmann and naegeli, itga2b-related//thrombasthenia of glanzmann and naegeli, itgb3-related	ITGB3;ITGA2B	ITGB3;ITGA2B	https://raresource.nih.gov/literature/disease/0002478	0002478		849	C0040015	D013915	integrin subunit beta 3; integrin subunit alpha 2b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glanzmann thrombasthenia"	1351
Glaucoma 3, primary infantile, B	glaucoma primary congenita type 3b//glaucoma, primary congenital, type b//glc3 type b//glc3b//primary congenital glaucoma type 3b	LTBP2;TEK;CYP1B1	LTBP2;TEK;CYP1B1	https://raresource.nih.gov/literature/disease/0002490	0002490	600975		C1832977	C536824	latent transforming growth factor beta binding protein 2; TEK receptor tyrosine kinase; cytochrome P450 family 1 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 3, primary infantile, B"	None
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	hltrs (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome//telangiectatic membranoproliferative glomerulonephritis	SOX18	SOX18	https://raresource.nih.gov/literature/disease/0002492	0002492	137940		C4317151	C536825	SRY-box transcription factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	2
Familial glucocorticoid deficiency		MC2R;NNT;TXNRD2;MRAP	MC2R;NNT;TXNRD2;MRAP	https://raresource.nih.gov/literature/disease/0002498	0002498		361	C4054695	C565974	melanocortin 2 receptor; nicotinamide nucleotide transhydrogenase; thioredoxin reductase 2; melanocortin 2 receptor accessory protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial glucocorticoid deficiency"	151
Glucocorticoid resistance	cortisol resistance from glucocorticoid receptor defect//gccr deficiency//gcr deficiency//generalized glucocorticoid resistance syndrome//glucocorticoid receptor deficiency//glucocorticoid resistance, generalized	NR3C1	NR3C1	https://raresource.nih.gov/literature/disease/0002499	0002499	615962	786	C1841972	C564221	nuclear receptor subfamily 3 group C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid resistance"	164
Glycogen storage disease type 1 due to SLC37A4 mutation	g6p translocase deficiency//glucose-6-phosphate translocase deficiency//glycogen storage disease i caused by mutation in slc37a4//slc37a4 glycogen storage disease i	SLC37A4	SLC37A4	https://raresource.nih.gov/literature/disease/0002501	0002501			C2931345	C536831	solute carrier family 37 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease type 1 due to SLC37A4 mutation"	1
Glycogen storage disorder due to hepatic glycogen synthase deficiency	glycogen storage disease due to glycogen synthase deficiency of liver//glycogen storage disease due to hepatic glycogen synthase deficiency//glycogen storage disease due to liver glycogen synthase deficiency//glycogen storage disease type 0, liver//glycogen storage disease type 0a//glycogen synthase deficiency//glycogenosis type 0a//gsd 0a//gsd due to hepatic glycogen synthase deficiency//gsd type 0a//liver glycogen storage disease due to glycogen synthase deficiency//liver glycogen synthase deficiency	GYS2	GYS2	https://raresource.nih.gov/literature/disease/0002513	0002513	240600	2089	C1855861	C565485	glycogen synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disorder due to hepatic glycogen synthase deficiency"	19
Glucose-6-phosphate transport defect	g6p deficiency type ib//g6pt deficiency//glycogen storage disease due to g6p deficiency type ib//glycogen storage disease ib//glycogen storage disease ic//glycogen storage disease type 1b//glycogen storage disease type i non-a//glycogen storage disease type ib//glycogen storage disease type ic//glycogenosis due to glucose-6-phosphatase deficiency type 1b//glycogenosis due to glucose-6-phosphatase transport defect type ib//glycogenosis type 1b//glycogenosis type ib//gsd due to g6p deficiency type ib//gsd due to g6pt deficiency//gsd ib//gsd type 1 non a//gsd type 1b//gsd type ib//gsd1b//gsdib	SLC37A4	SLC37A4	https://raresource.nih.gov/literature/disease/0002515	0002515	232220	79259	C0268146	C562594	solute carrier family 37 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucose-6-phosphate transport defect"	367
Glycogen storage disease, type IV	1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency//amylopectinosis//andersen disease//andersen disease (gsd iv)//andersen's disease//brancher deficiency//brancher deficiency glycogen storage disease//brancher deficiency glycogenosis//branching enzyme deficiency//branching-transferase deficiency glycogenosis//cirrhosis, familial, with deposition of abnormal glycogen//deficiency of 1,4-alpha-glucan branching enzyme//deficiency of amylo-(1,4,6)-transglycosylase//deficiency of branching enzyme//gbe1 deficiency//gbe1 glycogen storage disease//glycogen branching enzyme deficiency//glycogen storage disease caused by mutation in gbe1//glycogen storage disease due to glycogen branching enzyme deficiency//glycogen storage disease type 4//glycogen storage disease, type 4//glycogenosis due to glycogen branching enzyme deficiency//glycogenosis iv//glycogenosis type 4//glycogenosis type iv//glycogenosis, type 4//gsd due to glycogen branching enzyme deficiency//gsd iv//gsd type 4//gsd type iv//gsd4	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0002520	0002520	232500	367	C0017923	D006011	1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease, type IV"	195
Sandhoff disease	beta-hexosaminidase-beta-subunit deficiency//gm2 gangliosidosis 0 variant//gm2 gangliosidosis, 0 variant//gm2 gangliosidosis, type 2//gm2-gangliosidosis, type ii//gm>2< gangliosidosis, type 2//hexosaminidase a and b deficiency//hexosaminidases a and b deficiency//o variant//sandhoff jatzkewitz disease//sandhoff-jatzkewitz-pilz disease//total hexosaminidase deficiency	HEXB	HEXB	https://raresource.nih.gov/literature/disease/0002521	0002521	268800	796	C0036161	D012497	hexosaminidase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sandhoff disease"	3274
Gordon syndrome	arthrogryposis multiplex congenita, distal, type iia//camptodactyly, cleft palate, and clubfoot//camptodactyly, cleft palate, clubfoot syndrome//camptodactyly-cleft palate-clubfoot syndrome//da3//distal arthrogryposis type 3//distal arthrogryposis type iia//gordon's syndrome	PIEZO2	PIEZO2	https://raresource.nih.gov/literature/disease/0002553	0002553	114300	376	C0220666	C537288	piezo type mechanosensitive ion channel component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gordon syndrome"	165
Nonsyndromic congenital nail disorder 3	inherited isolated nail anomaly caused by mutation in plcd1//leukonychia totalis and/or partialis//nail disorder, nonsyndromic congenital, 3, (leukonychia)//nail disorder, nonsyndromic congenital, type 3//ndnc3//nonsyndromic congenital nail disorder type 3//plcd1 inherited isolated nail anomaly	PLCD1	PLCD1	https://raresource.nih.gov/literature/disease/0002555	0002555	151600		C0544855	C537289	phospholipase C delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nonsyndromic congenital nail disorder 3"	271
Gray platelet syndrome	alpha storage pool deficiency//bdplt4//bleeding disorder, platelet-type, 4//deficient alpha granule syndrome//gps//platelet alpha granule deficiency//platelet alpha-granule deficiency//platelet granule defect//platelet-type bleeding disorder 4	NBEAL2	NBEAL2	https://raresource.nih.gov/literature/disease/0002562	0002562	139090	721	C0272302	D055652	neurobeachin like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gray platelet syndrome"	390
Griscelli syndrome type 1	griscelli syndrome with neurologic impairment//griscelli syndrome with neurological impairment//griscelli syndrome, cutaneous and neurologic type//griscelli syndrome, cutaneous and neurological type//griscelli-prunic)ras syndrome type 1//griscelli-pruniéras syndrome type 1//gs1//hypopigmentation-immunodeficiency disease type 1//hypopigmentation-neurologic impairment syndrome//partial albinism and primary neurologic disease without hemophagocytic syndrome	MYO5A	MYO5A	https://raresource.nih.gov/literature/disease/0002566	0002566	214450	79476	C1859194	C537301	myosin VA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Griscelli syndrome type 1"	360
Myhre syndrome	facial dysmorphism, intellectual deficit, short stature and hearing loss//facial dysmorphism-intellectual disability-short stature-deafness syndrome//facial dysmorphism-intellectual disability-short stature-hearing loss syndrome//laps syndrome//laryngotracheal stenosis, arthropathy, prognathism and short stature//laryngotracheal stenosis, arthropathy, prognathism, and short stature//myhrs	SMAD4	SMAD4	https://raresource.nih.gov/literature/disease/0002572	0002572	139210	2588	C0796081	C537620	SMAD family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myhre syndrome"	97
Deficiency of guanidinoacetate methyltransferase	ccds2//cerebral creatine deficiency syndrome 2//cerebral creatine deficiency syndrome type 2//disorder of guanidinoacetate n-methyltransferase activity//gamt deficiency//guanidinoacetate methyltransferase deficiency//guanidinoacetate n-methyltransferase activity disease	GAMT	GAMT	https://raresource.nih.gov/literature/disease/0002578	0002578	612736	382	C0574080	C537622	guanidinoacetate N-methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of guanidinoacetate methyltransferase"	138
Autosomal recessive osteopetrosis 1	albers-schonberg disease, autosomal recessive//autosomal recessive albers-schonberg disease//autosomal recessive malignant osteopetrosis caused by mutation in tcirg1//autosomal recessive osteopetrosis caused by mutation in tcirg1//autosomal recessive osteopetrosis type 1//infantile malignant osteopetrosis 1//optb1//osteopetrosis, autosomal recessive type 1//tcirg1 autosomal recessive malignant osteopetrosis//tcirg1 autosomal recessive osteopetrosis//tcirg1-related autosomal recessive osteopetrosis	TCIRG1	TCIRG1	https://raresource.nih.gov/literature/disease/0002579	0002579	259700		C1850127	C564915	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 1"	None
Hand-foot-genital syndrome	hand-foot-uterus syndrome//hfg syndrome//hfgs//hfu syndrome	HOXA13	HOXA13	https://raresource.nih.gov/literature/disease/0002594	0002594	140000	2438	C1841679	C535627	homeobox A13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hand-foot-genital syndrome"	56
Walker-Warburg congenital muscular dystrophy	cerebroocular dysplasia-muscular dystrophy syndrome//hard (hydrocephalus, agyria, retinal dysplasia) syndrome//hard syndrome//hydrocephalus, agyria and retinal dysplasia//hydrocephalus-agyria-retinal dysplasia syndrome//muscular dystrophy-dystroglycanopathy, type a//walker warburg syndrome//walker-warburg muscular dystrophy//walker-warburg syndrome//wws	CRPPA;B4GAT1;POMGNT1;DAG1;LARGE1;POMGNT2;RXYLT1;POMT2;POMT1;POMK;FKTN;FKRP;B3GALNT2	CRPPA;B4GAT1;POMGNT1;DAG1;LARGE1;POMGNT2;RXYLT1;POMT2;POMT1;POMK;FKTN;FKRP;B3GALNT2	https://raresource.nih.gov/literature/disease/0002599	0002599		899	C0265221	D058494	CDP-L-ribitol pyrophosphorylase A; beta-1,4-glucuronyltransferase 1; protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-); dystroglycan 1; LARGE xylosyl- and glucuronyltransferase 1; protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-); ribitol xylosyltransferase 1; protein O-mannosyltransferase 2; protein O-mannosyltransferase 1; protein O-mannose kinase; fukutin; fukutin related protein; beta-1,3-N-acetylgalactosaminyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Walker-Warburg congenital muscular dystrophy"	375
Progressive familial heart block type IB	pfhb1b//progressive familial heart block caused by mutation in trpm4//trpm4 progressive familial heart block	TRPM4	TRPM4	https://raresource.nih.gov/literature/disease/0002610	0002610	604559		C1970298	C567037	transient receptor potential cation channel subfamily M member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial heart block type IB"	None
Hecht syndrome	da7//distal arthrogryposis type 7//dutch kentucky syndrome//dutch-kentucky syndrome//hecht beals syndrome//hecht-beals syndrome//mouth, inability to open completely, and short finger-flexor tendons//trismus pseudocamptodactyly syndrome//trismus-pseudocamptodactyly syndrome	MYH8	MYH8	https://raresource.nih.gov/literature/disease/0002621	0002621	158300	3377	C0265226	C535857	myosin heavy chain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hecht syndrome"	32
Isolated hemihyperplasia	hemi 3 syndrome//hemicorporal hypertrophy//hemihypertrophy//ih//isolated hemihypertrophy	H19;KCNQ1OT1;IGF2	H19;KCNQ1OT1;IGF2	https://raresource.nih.gov/literature/disease/0002630	0002630	235000	2128	C1856184	C565524	H19 imprinted maternally expressed transcript; KCNQ1 opposite strand/antisense transcript 1; insulin like growth factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated hemihyperplasia"	3743
Hemimegalencephaly	unilateral megalencephaly	MTOR;AKT3;PIK3CA	MTOR;AKT3;PIK3CA	https://raresource.nih.gov/literature/disease/0002637	0002637		99802	C0431391	D065705	mechanistic target of rapamycin kinase; AKT serine/threonine kinase 3; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemimegalencephaly"	597
Migraine, familial hemiplegic, 1	familial hemiplegic migraine type 1//fhm1//hemiplegic migraine, familial type 1//mhp1//migraine, familial hemiplegic 1, with progressive cerebellar ataxia//migraine, familial hemiplegic, 1, with progressive cerebellar ataxia//migraine, familial hemiplegic, type 1//migraine, sporadic hemiplegic	CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0002638	0002638	141500		C1832884	C536890	calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Migraine, familial hemiplegic, 1"	122
Hemoglobin E disease	hb-e disease//hemoglobin e-e disease//homozygous for hb e	HBB	HBB	https://raresource.nih.gov/literature/disease/0002641	0002641		2133	C0238159		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin E disease"	90
Tyrosinemia type I	deficiency of beta-diketonase//deficiency of fumarylacetoacetase//fah deficiency//fah-gene related tyrosinemia type 1//fumarylacetoacetase deficiency//fumarylacetoacetate hydrolase deficiency//hepatorenal tyrosinemia//type i tyrosinemia//tyrosinemia type 1//tyrsn1	FAH	FAH	https://raresource.nih.gov/literature/disease/0002658	0002658	276700	882	C0268490		fumarylacetoacetate hydrolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tyrosinemia type I"	362
Hereditary methemoglobinemia	autosomal recessive methemoglobinemia//congenital methemoglobinemia	CYB5R3	CYB5R3	https://raresource.nih.gov/literature/disease/0002659	0002659		621	C0272087	C580280	cytochrome b5 reductase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary methemoglobinemia"	208
High molecular weight kininogen deficiency	congenital high-molecular-weight kininogen deficiency//fitzgerald factor deficiency//fitzgerald trait//fitzgerald-flaujeac-williams-reid trait//hmwk deficiency//kininogen deficiency//reduced kininogen activity//williams factor deficiency//williams-fitzgerald-flaujeac factor deficiency	KNG1	KNG1	https://raresource.nih.gov/literature/disease/0002684	0002684	228960	483	C0272340	C537060	kininogen 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=High molecular weight kininogen deficiency"	54
Hip dysplasia, Beukes type	beukes familial hip dysplasia//bfhd//cilliers beighton syndrome//cilliers-beighton syndrome//osteoarthropathy, premature degenerative, of hip//premature degenerative osteoarthropathy of hip//premature degenerative osteoarthropathy of the hip	UFSP2	UFSP2	https://raresource.nih.gov/literature/disease/0002690	0002690	142669	2114	C1840572	C564185	UFM1 specific peptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hip dysplasia, Beukes type"	4344
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency//hmg-coa synthase deficiency//hmg-coa synthase-2 deficiency//hmgcs2 deficiency//hmgcs2d//mitochondrial hmg-coa synthase deficiency	HMGCS2	HMGCS2	https://raresource.nih.gov/literature/disease/0002712	0002712	605911	35701	C2751532	C567784	3-hydroxy-3-methylglutaryl-CoA synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	28
Holocarboxylase synthetase deficiency	biotin-(propionyl-coa-carboxylase) ligase deficiency//early-onset multiple carboxylase deficiency//holocarboxylase synthase deficiency//multiple carboxylase deficiency - neonatal onset//multiple carboxylase deficiency, early onset//neonatal multiple carboxylase deficiency	HLCS	HLCS	https://raresource.nih.gov/literature/disease/0002721	0002721	253270	79242	C0268581	D028922	holocarboxylase synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holocarboxylase synthetase deficiency"	90
Hartsfield-Bixler-Demyer syndrome	hartsfield syndrome//holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate//holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome//holoprosencephaly-ectrodactyly-cleft lip palate syndrome//holoprosencephaly-ectrodactyly-cleft lip/palate syndrome//hrtfds	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0002725	0002725	615465	2117	C1845146	C564484	fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hartsfield-Bixler-Demyer syndrome"	23
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	homocysteinuria due to mthfr deficiency//homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity//homocystinuria due to mthfr deficiency//methylene tetrahydrofolate reductase deficiency//mthfr deficiency	MTHFR	MTHFR	https://raresource.nih.gov/literature/disease/0002734	0002734	236250	395	C1856061	C537357	methylenetetrahydrofolate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Homocystinuria due to methylene tetrahydrofolate reductase deficiency"	173
Hyperimmunoglobulin D with periodic fever	hids//hids - hyper-igd periodic fever syndrome//hyper igd syndrome//hyper-igd periodic fever syndrome//hyper-igd syndrome//hyper-immunoglobulin d periodic fever syndrome//hyperimmunoglobinemia d with recurrent fever//hyperimmunoglobulinemia d//hyperimmunoglobulinemia d and periodic fever syndrome//hyperimmunoglobulinemia d syndrome//hyperimmunoglobulinemia d with periodic fever//partial mevalonate kinase deficiency//periodic fever dutch type	MVK	MVK	https://raresource.nih.gov/literature/disease/0002788	0002788	260920	343	C0398691		mevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperimmunoglobulin D with periodic fever"	333
Familial hyperaldosteronism type II	familial adrenal adenoma//familial hyperaldosteronism type 2//fh ii//fh-ii//fh2	CLCN2	CLCN2	https://raresource.nih.gov/literature/disease/0002789	0002789	605635	404	C1854107	C565312	chloride voltage-gated channel 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperaldosteronism type II"	35
Glucocorticoid-remediable aldosteronism	acth-dependent hyperaldosteronism syndrome//aldosteronism, glucocorticoid-remediable//aldosteronism, sensitive to dexamethasone//dexamethasone-sensitive hypertension//familial hyperaldosteronism type 1//familial hyperaldosteronism type i//fh i//fh-i//fh1//glucocorticoid-sensitive hypertension//glucocorticoid-suppressible hyperaldosteronism//gra//gra - glucocorticoid-remediable aldosteronism//hyperaldosteronism, familial, type i	CYP11B1	CYP11B1	https://raresource.nih.gov/literature/disease/0002790	0002790	103900	403	C3838731	C563177	cytochrome P450 family 11 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid-remediable aldosteronism"	193
Lucey-Driscoll syndrome	hblrtfn//hyperbilirubinemia, familial transient neonatal//transient familial neonatal hyperbilirubinemia	UGT1A1	UGT1A1	https://raresource.nih.gov/literature/disease/0002791	0002791	237900	2312	C0270210	C562692	UDP glucuronosyltransferase family 1 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lucey-Driscoll syndrome"	3
Dubin-Johnson syndrome	black liver-jaundice syndrome//chronic idiopathic jaundice//chronic idiopathic jaundice with pigmented liver//djs//djs - dubin-johnson syndrome//dubin-sprinz disease//dubin-sprinz syndrome//hyperbilirubinemia ii//hyperbilirubinemia type 2//hyperbilirubinemia, dubin-johnson type//icterus-hepatic pigmentation syndrome//jaundice, chronic idiopathic//sprinz nelson syndrome//sprinz-nelson syndrome	ABCC2	ABCC2	https://raresource.nih.gov/literature/disease/0002793	0002793	237500	234	C0022350	D007566	ATP binding cassette subfamily C member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dubin-Johnson syndrome"	521
Familial hypocalciuric hypercalcemia 1	casr familial hypocalciuric hypercalcemia//familial benign hypercalcemia 1//familial hypocalciuric hypercalcemia caused by mutation in casr//familial hypocalciuric hypercalcemia type 1//familial hypocalciuric hypercalcemia type i//familial hypocalciuric hypercalcemia, type i//fhh type 1//hhc1//hpocalciuric hypercalcemia, type i//hypercalcemia, familial benign type 1//hypocalciuric hypercalcemia type i	CASR	CASR	https://raresource.nih.gov/literature/disease/0002796	0002796	145980	93372	C0342637	C537145	calcium sensing receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypocalciuric hypercalcemia 1"	24
Hereditary hyperferritinemia with congenital cataracts	bonneau-beaumont syndrome//hereditary hyperferritinemia cataract syndrome//hereditary hyperferritinemia-cataract syndrome//hhcs//hyperferritinemia cataract syndrome//hyperferritinemia with or without cataract	FTL	FTL	https://raresource.nih.gov/literature/disease/0002806	0002806	600886	163	C1833213	C538137	ferritin light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hyperferritinemia with congenital cataracts"	138
Premature ovarian failure 1	fmr1 primary ovarian failure//fmr1-related primary ovarian insufficiency//fragile x associated primary ovarian insufficiency//fragile x premature ovarian failure//fragile x-associated primary ovarian insufficiency//hypergonadotropic ovarian failure, x-linked//pof1//premature ovarian failure type 1//premature ovarian failure, x-linked//primary ovarian failure caused by mutation in fmr1//primary ovarian insufficiency, fragile x-associated	FMR1	FMR1	https://raresource.nih.gov/literature/disease/0002811	0002811	311360	642691	C4552079		fragile X messenger ribonucleoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 1"	88
Combined immunodeficiency due to DOCK8 deficiency	cid due to dock8 deficiency//combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency//dedicator of cytokinesis 8 deficiency//dock8 deficiency//dock8 immunodeficiency syndrome//hies autosomal recessive//hies2//hyper-ige recurrent infection syndrome 2, autosomal recessive//hyper-ige recurrent infection syndrome, autosomal recessive//hyper-ige syndrome 2, autosomal recessive, with recurrent infections	DOCK8	DOCK8	https://raresource.nih.gov/literature/disease/0002816	0002816	243700	217390	C4722305		dedicator of cytokinesis 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to DOCK8 deficiency"	179
Hyperinsulinism due to glucokinase deficiency	gck-related hyperinsulinism//hhf3//hyperinsulinemic hypoglycemia due to glucokinase deficiency//hyperinsulinemic hypoglycemia, familial, type 3	GCK	GCK	https://raresource.nih.gov/literature/disease/0002818	0002818	602485	79299	C1865290	C538374	glucokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to glucokinase deficiency"	None
Epidermolytic palmoplantar keratoderma, 1	diffuse erythrodermic palmoplantar keratoderma, vc6rner type//diffuse erythrodermic palmoplantar keratoderma, voerner type//epidermolytic palmoplantar keratoderma of vc6rner//epidermolytic palmoplantar keratoderma of voerner//eppk//palmoplantar keratoderma, epidermolytic, with knuckle pads	KRT9	KRT9	https://raresource.nih.gov/literature/disease/0002826	0002826	144200		CN377798		keratin 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolytic palmoplantar keratoderma, 1"	60
Hyperlysinemia	elevated blood lysine//hyperlysinemia (disease)//hyperlysinemia type i//hyperlysinemia, type i//hyperlysinemias//l-lysine nad-oxido-reductase deficiency//lysine alpha-ketoglutarate reductase deficiency//lysine intolerance	AASS	AASS	https://raresource.nih.gov/literature/disease/0002828	0002828	238700	2203	C0268553	D020167	aminoadipate-semialdehyde synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperlysinemia"	49
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	hhh - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome//hhh syndrome//hhhs//hyperornithinemia-hyperammonemia-homocitrullinemia syndrome//hyperornithinemia-hyperammonemia-homocitrullinuria (hhh) syndrome//ornithine carrier deficiency//ornithine translocase deficiency//ornt1 deficiency//slc25a15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome//solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome//triple h syndrome	SLC25A15	SLC25A15	https://raresource.nih.gov/literature/disease/0002830	0002830	238970	415	C0268540	C538380	solute carrier family 25 member 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"	114
Hyperphosphatasemia with bone disease	chronic congenital idiopathic hyperphosphatasemia//familial hyperphosphatasia//familial idiopathic hyperphosphatasemia//familial osteoectasia//hereditary hyperphosphatasia//hyperostosis corticalis deformans juvenilis//hyperphosphatasemia, chronic congenital idiopathic//hyperphosphatasia, familial idiopathic//jpg//juvenile paget disease//juvenile paget's disease//osteochalasia desmalis familiaris//osteoectasia familial//osteoectasia with hyperphosphatasia//paget disease of bone 5//paget disease of bone 5, juvenile-onset//paget disease, juvenile//pdb5	TNFRSF11B	TNFRSF11B	https://raresource.nih.gov/literature/disease/0002831	0002831	239000	2801	C0268414	C537701	TNF receptor superfamily member 11b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasemia with bone disease"	73
Hyperphosphatasemia tarda	endosteal hyperostosis//hyperostosis corticalis generalisata//hyperphosphatasia tarda//leontiasis ossea generalisata//sost-related sclerosing bone dysplasias//van buchem disease//van buchem disease type 1//van buchem's syndrome//vbch	SOST	SOST	https://raresource.nih.gov/literature/disease/0002833	0002833	239100	3416	C0432272		sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasemia tarda"	122
Primary hyperoxaluria, type I	2-oxoglutarate glyoxylate carboligase deficiency//agxt primary hyperoxaluria//alanine-glycoxylate aminotransferase deficiency//alanine-glyoxylate aminotransferase deficiency//glycolic aciduria//hepatic agt deficiency//hp1//oxalosis i//oxalosis type i//peroxisomal alanine-glyoxylate aminotransferase deficiency//ph1//primary hyperoxaluria caused by mutation in agxt//primary hyperoxaluria type 1	AGXT	AGXT	https://raresource.nih.gov/literature/disease/0002835	0002835	259900	93598	C0268164	C536414	alanine--glyoxylate aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hyperoxaluria, type I"	750
Primary hyperoxaluria, type II	d-glycerate dehydrogenase deficiency//deficiency of glycerate dehydrogenase//deficiency of glyoxylate reductase//glycerate dehydrogenase deficiency//glyceric aciduria//glyceric dehydrogenase deficiency//glyoxylate reductase deficiency//glyoxylate reductase/hydroxypyruvate reductase deficiency//grhpr primary hyperoxaluria//hp2//l-glyceric aciduria//oxalosis ii//oxalosis type ii//primary hyperoxaluria caused by mutation in grhpr//primary hyperoxaluria type 2	GRHPR	GRHPR	https://raresource.nih.gov/literature/disease/0002836	0002836	260000	93599	C0268165	C536415	glyoxylate and hydroxypyruvate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hyperoxaluria, type II"	76
Neonatal severe primary hyperparathyroidism	hyperparathyroidism, neonatal//nshpt	CASR	CASR	https://raresource.nih.gov/literature/disease/0002838	0002838	239200	417	C1832615	C563375	calcium sensing receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal severe primary hyperparathyroidism"	104
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	cadh deficiency//dehydratase deficiency//hyperphenylalaninemia due to dehydratase deficiency//hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency//hyperphenylalaninemia with primapterinuria//hyperphenylalaninemia, bh4-deficient, type d//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency//pcbd deficiency//pcbd1 deficiency//pcd deficiency//pterin-4 alpha-carbinolamine dehydratase deficiency	PCBD1	PCBD1	https://raresource.nih.gov/literature/disease/0002843	0002843	264070	1578	C1849700	C538382	pterin-4 alpha-carbinolamine dehydratase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	None
GTP cyclohydrolase I deficiency with hyperphenylalaninemia	gtpch deficiency//hpabh4b//hyperphenylalaninemia due to gtp cyclohydrolase deficiency//hyperphenylalaninemia, bh4-deficient, b//hyperphenylalaninemia, bh4-deficient, type b//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency	GCH1	GCH1	https://raresource.nih.gov/literature/disease/0002844	0002844		2102	CN305333		GTP cyclohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GTP cyclohydrolase I deficiency with hyperphenylalaninemia"	13
Familial hyperthyroidism due to mutations in TSH receptor	familial non-immune hyperthyroidism//hyperthyroidism, congenital nonautoimmune//hyperthyroidism, nonautoimmune, autosomal dominant//resistance to thyroid stimulating hormone//toxic thyroid hyperplasia, autosomal dominant	TSHR	TSHR	https://raresource.nih.gov/literature/disease/0002858	0002858	609152	424	C1836706	C563786	thyroid stimulating hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperthyroidism due to mutations in TSH receptor"	None
X-linked congenital generalized hypertrichosis	chromosome xq27.1 interchromosomal insertion syndrome//congenital generalised hypertrichosis, macias-flores type//congenital generalized hypertrichosis, macias-flores type//hypertrichosis, congenital generalized//hypertrichosis, congenital generalized, 2//hypertrichosis, congenital generalized, x-linked dominant//macias flores-garcia cruz-rivera syndrome	SOX3	SOX3	https://raresource.nih.gov/literature/disease/0002863	0002863	307150	79495	C5887323	C538388	SRY-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked congenital generalized hypertrichosis"	2
Familial hypertryptophanemia	hypertryptophanemia	TDO2	TDO2	https://raresource.nih.gov/literature/disease/0002871	0002871	600627	2224	C2931837	C538393	tryptophan 2,3-dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypertryptophanemia"	13
Familial hypobetalipoproteinemia 1	acanthocytosis with hypobetalipoproteinemia//apob hypobetalipoproteinemia//familial hypobetalipoproteinemia type 1//fhbl1//hypobetalipoproteinemia caused by mutation in apob//hypobetalipoproteinemia, familial, type 1//hypobetalipoproteinemia, normotriglyceridemic	APOB	APOB	https://raresource.nih.gov/literature/disease/0002876	0002876	615558		C4551990	C566267	apolipoprotein B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypobetalipoproteinemia 1"	7
Autosomal dominant hypocalcemia	ad hypocalcemia//familial hypercalciuric hypocalcemia//familial hypocalcemia//hypocalcemia, autosomal dominant	CASR;GNA11	CASR;GNA11	https://raresource.nih.gov/literature/disease/0002877	0002877		428	C4048195		calcium sensing receptor; G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypocalcemia"	118
Familial hypocalciuric hypercalcemia 3	ap2s1 familial hypocalciuric hypercalcemia//familial benign hypercalcemia, type iii//familial hypocalciuric hypercalcemia caused by mutation in ap2s1//familial hypocalciuric hypercalcemia type 3//fhh type 3//hhc3//hpocalciuric hypercalcemia, type iii//hypercalcemia, familial benign, oklahoma type//hypocalciuric hypercalcemia type iii//hypocalciuric hypercalcemia, familial, type iii//hypocalciuric hypercalcemia, type iii	AP2S1	AP2S1	https://raresource.nih.gov/literature/disease/0002878	0002878	600740	101050	C1833372	C537147	adaptor related protein complex 2 subunit sigma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypocalciuric hypercalcemia 3"	15
Familial hypofibrinogenemia		FGB;FGG;FGA	FGB;FGG;FGA	https://raresource.nih.gov/literature/disease/0002887	0002887		101041	C5681803		fibrinogen beta chain; fibrinogen gamma chain; fibrinogen alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypofibrinogenemia"	6
Hypogonadotropic hypogonadism 7 with or without anosmia	hh7//hypogonadotropic hypogonadism 7 without anosmia//idiopathic gonadotrophin deficiency//idiopathic hypogonadotropic hypogonadism//isolated gonadotropin-releasing hormone (gnrh) deficiency	GNRHR	GNRHR	https://raresource.nih.gov/literature/disease/0002897	0002897	146110		C0342384	C562785	gonadotropin releasing hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 7 with or without anosmia"	411
Primary hypomagnesemia	cldn16 familial primary hypomagnesemia//cldn16 primary hypomagnesemia//familial primary hypomagnesemia caused by mutation in cldn16//familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement//fhhnc without severe ocular involvement//homg3//hypomagnesemia 3, renal//hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis//hypomagnesemia, isolated renal//hypomagnesemia, primary, due to defect in renal tubular transport of magnesium//isolated renal hypomagnesemia//primary hypomagnesemia caused by mutation in cldn16//primary hypomagnesemia due to defect in renal tubular transport of magnesium//primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement//renal hypomagnesemia 3//renal hypomagnesemia type 3	CLDN16	CLDN16	https://raresource.nih.gov/literature/disease/0002906	0002906	248250	31043	C0268448	C537153	claudin 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hypomagnesemia"	412
Hypoparathyroidism, deafness, renal disease syndrome	barakat syndrome//hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome//hdr syndrome//hdrs//hypoparathyroidism, deafness, and renal anomalies syndrome//hypoparathyroidism, sensorineural deafness, and renal disease//hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome//hypoparathyroidism-sensorineural deafness-renal disease syndrome//hypoparathyroidism-sensorineural hearing loss-renal disease syndrome	GATA3	GATA3	https://raresource.nih.gov/literature/disease/0002911	0002911	146255	2237	C1840333	C537907	GATA binding protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoparathyroidism, deafness, renal disease syndrome"	117
Congenital prothrombin deficiency	congenital factor ii deficiency//dysprothrombinemia//factor ii deficiency//hereditary factor ii deficiency disease//hereditary hypoprothrombinemia//hereditary prothrombin deficiency//hypoprothrombinemia//inherited hypoprothrombinemia//inherited prothrombin deficiency	F2	F2	https://raresource.nih.gov/literature/disease/0002926	0002926	613679	325	C0272317	D007020	coagulation factor II, thrombin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital prothrombin deficiency"	485
Hamartoma of hypothalamus	congenital hypothalamic hamartoma syndrome//hypothalamic hamartoma//hypothalamic hamartomas//pallister-hall-like syndrome//tuber cinereum hamartoma	SMO	SMO	https://raresource.nih.gov/literature/disease/0002934	0002934	241800		C0342418	C537158	smoothened, frizzled class receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hamartoma of hypothalamus"	3013
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	centromeric instability, immunodeficiency syndrome//icf syndrome//icf1//immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16//immunodeficiency syndrome, variable//immunodeficiency-centromeric instability-facial anomalies//immunodeficiency-centromeric instability-facial anomalies syndrome	HELLS;UHRF1;DNMT3B;ZBTB24;CDCA7	HELLS;UHRF1;DNMT3B;ZBTB24;CDCA7	https://raresource.nih.gov/literature/disease/0002945	0002945		2268	C0398788	C537362	helicase, lymphoid specific; ubiquitin like with PHD and ring finger domains 1; DNA methyltransferase 3 beta; zinc finger and BTB domain containing 24; cell division cycle associated 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency"	165
Autosomal recessive keratitis-ichthyosis-deafness syndrome	autosomal recessive kid (keratitis, ichthyosis, deafness) syndrome//desmons syndrome//ichthyosiform erythroderma, corneal involvement, and hearing loss//kid syndrome, autosomal recessive	AP1B1	AP1B1	https://raresource.nih.gov/literature/disease/0002946	0002946	242150		C1275089	C537363	adaptor related protein complex 1 subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive keratitis-ichthyosis-deafness syndrome"	3
Ichthyosis hystrix of Curth-Macklin	curth-macklin type ichthyosis hystrix//ichthyosis histrix, curth-macklin type//ichthyosis hystrix, curth macklin type//ichthyosis hystrix, curth-macklin type//ihcm	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0002954	0002954	146590	79503	C1840296	C536088	keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis hystrix of Curth-Macklin"	7
Ichthyosis bullosa of Siemens	bullous type ichthyosis//ibs//sei//superficial epidermolytic ichthyosis	KRT2	KRT2	https://raresource.nih.gov/literature/disease/0002966	0002966	146800	455	C0432306	D053560	keratin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis bullosa of Siemens"	10607
Anterior segment dysgenesis 3	anterior segment dysgenesis 3, multiple subtypes//asgd3//foxc1 iridogoniodysgenesis//glaucoma iridogoniodysplasia, familial//igda//igda syndrome//irid1//iridogoniodysgenesis anomaly, autosomal dominant//iridogoniodysgenesis caused by mutation in foxc1//iridogoniodysgenesis type 1//iridogoniodysgenesis, type 1	FOXC1	FOXC1	https://raresource.nih.gov/literature/disease/0002978	0002978	601631		C5975707	C535535	forkhead box C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 3"	10
Infantile myofibromatosis	congenital generalized fibromatosis//imf//infantile hemangiopericytoma//multicentric myofibromatosis//myofibromatosis	NOTCH3;PDGFRB	NOTCH3;PDGFRB	https://raresource.nih.gov/literature/disease/0002998	0002998		2591	C0432284	D018224	notch receptor 3; platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile myofibromatosis"	135
Hereditary insensitivity to pain with anhidrosis	autosomal recessive hereditary sensory neuropathy//cip-anhidrosis syndrome//cipa//congenital insensitivity to pain with anhidrosis//congenital insensitivity to pain, anhidrosis and mental retardation//congenital insensitivity to pain-anhidrosis syndrome//congenital sensory neuropathy with anhidrosis//familial dysautonomia, type ii//hereditary sensory and autonomic neuropathy caused by mutation in ntrk1//hereditary sensory and autonomic neuropathy type 4//hereditary sensory and autonomic neuropathy type iv//hereditary sensory and autonomic neuropathy, type iv//hereditary sensory neuropathy type iv//hsan iv//hsan type iv//hsan4//insensitivity to pain, congenital, with anhidrosis//neuropathy, congenital sensory, with anhidrosis//ntrk1 hereditary sensory and autonomic neuropathy//swanson-buchanan-alvord neuropathy syndrome	NTRK1	NTRK1	https://raresource.nih.gov/literature/disease/0003006	0003006	256800	642	C0020074		neurotrophic receptor tyrosine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary insensitivity to pain with anhidrosis"	249
Mosaic variegated aneuploidy syndrome	mva syndrome//warburton-anyane-yeboa syndrome	BUB1;CEP57;TRIP13;BUB1B;BUB3	BUB1;CEP57;TRIP13;BUB1B;BUB3	https://raresource.nih.gov/literature/disease/0003007	0003007		1052	C4551972	C536987	BUB1 mitotic checkpoint serine/threonine kinase; centrosomal protein 57; thyroid hormone receptor interactor 13; BUB1 mitotic checkpoint serine/threonine kinase B; BUB3 mitotic checkpoint protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome"	33
Insulin-resistant diabetes mellitus AND acanthosis nigricans	diabetes mellitus, insulin-resistant, with acanthosis nigricans//diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a//hereditary benign acanthosis nigricans with insulin resistance//insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans//insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans//insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism//insulin-resistance syndrome type a//insulin-resistant acanthosis nigricans type a//iran, type a//type a insulin resistance//type a insulin resistance syndrome	INSR	INSR	https://raresource.nih.gov/literature/disease/0003008	0003008	610549	2297	C0342278	C562710	insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Insulin-resistant diabetes mellitus AND acanthosis nigricans"	202
Pancreatic insulin-producing neuroendocrine tumor	beta cell neoplasm//beta cell tumor//beta cell tumor of pancreas//beta cell tumor of the pancreas//beta cell tumour//beta cell tumour of pancreas//beta cell tumour of the pancreas//insulin-producing islet cell tumor//insulin-producing islet cell tumour//insulin-producing tumor of islet cells//insulin-producing tumor of the islet cells//insulin-producing tumour of islet cells//insulin-producing tumour of the islet cells//insulinoma//pancreatic beta cell tumor//pancreatic beta cell tumour//pancreatic insulin producing neoplasm//pancreatic insulin producing net//pancreatic insulin producing tumor//pancreatic insulin producing tumour//pancreatic insulin-producing tumor//pancreatic insulin-producing tumour	YY1	YY1	https://raresource.nih.gov/literature/disease/0003010	0003010		97279	C5848150		YY1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic insulin-producing neuroendocrine tumor"	5077
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ifngr1//ifngr1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency//mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency//msmd due to complete ifngammar1 deficiency//msmd due to complete interferon gamma receptor 1 deficiency	IFNGR1	IFNGR1	https://raresource.nih.gov/literature/disease/0003011	0003011		99898	CN036360	C535530	interferon gamma receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"	None
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	ciipx//congenital idiopathic intestinal pseudoobstruction//congenital short bowel syndrome, x-linked recessive//intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement//intestinal pseudoobstruction, neuronal, x-linked recessive	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0003017	0003017	300048		C2746068	C535532	filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"	2
Cerebral arteriovenous malformation	arteriovenous malformation of the brain, somatic//arteriovenous malformations//arteriovenous malformations of the brain//avm - cerebral arteriovenous malformation//bavm//cerebral arteriovenous malformations//cerebral av malformation//congenital cerebral arteriovenous malformation//intracranial arteriovenous malformation//intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation//intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation	IL6;KRAS	IL6;KRAS	https://raresource.nih.gov/literature/disease/0003020	0003020	108010	46724	C0917804	D002538	interleukin 6; KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral arteriovenous malformation"	7477
Hereditary intrinsic factor deficiency	congenital deficiency of intrinsic factor//congenital intrinsic factor deficiency//congenital pernicious anaemia//congenital pernicious anemia//gastric intrinsic factor deficiency//hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency//hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency//ifd//intrinsic factor deficiency//pernicious anemia, congenital, due to defect of intrinsic factor	CBLIF	CBLIF	https://raresource.nih.gov/literature/disease/0003024	0003024	261000	332	C1394891	C563242	cobalamin binding intrinsic factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary intrinsic factor deficiency"	746
Anterior segment dysgenesis 4	asgd4//irid2//iridogoniodysgenesis caused by mutation in pitx2//iridogoniodysgenesis syndrome//iridogoniodysgenesis, type 2//iris hypoplasia//pitx2 iridogoniodysgenesis	PITX2	PITX2	https://raresource.nih.gov/literature/disease/0003026	0003026	137600		C1842031		paired like homeodomain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 4"	167
Coxopodopatellar syndrome	congenital coxa vara, patella aplasia and tarsal synostosis//ischiocoxopodopatellar syndrome//ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension//ischiopatellar dysplasia//patella aplasia, coxa vara, and tarsal synostosis//scott taor syndrome//scott-taor syndrome//small patella syndrome//sps	TBX4	TBX4	https://raresource.nih.gov/literature/disease/0003030	0003030	147891	1509	C1840061	C535540	T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coxopodopatellar syndrome"	1234
Neuronal ceroid lipofuscinosis 2	ceroid lipofuscinosis, neuronal, type 2//classic late infantile ncl//classic late infantile neuronal ceroid lipofuscinosis//cln2//cln2 disease//jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile//neuronal ceroid lipofuscinosis 2 variable age at onset//neuronal ceroid lipofuscinosis caused by mutation in tpp1//neuronal ceroid lipofuscinosis type 2//tpp1 neuronal ceroid lipofuscinosis//tpp1-related neuronal ceroid-lipofuscinosis	TPP1	TPP1	https://raresource.nih.gov/literature/disease/0003045	0003045	204500	228349	C1876161		tripeptidyl peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 2"	1918
Spondylometaphyseal dysplasia, Kozlowski type	dysmorphism arthrogryposis skeletal maturation advanced//jequier-kozlowski syndrome//kozlowski spondylometaphyseal dysplasia//skeletal dysplasia jequier-kozlowski type//smd kozlowski type//smdk	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0003047	0003047	184252	93314	C0265280	C535797	transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia, Kozlowski type"	9
Jervell and Lange-Nielsen syndrome	cardio-auditory syndrome//jervell and lange-nielson syndrome//jervell lange-nielsen syndrome//jervell-lange nielsen syndrome//jlns//long qt interval-deafness syndrome//long qt interval-hearing loss syndrome	KCNQ1;KCNE1	KCNQ1;KCNE1	https://raresource.nih.gov/literature/disease/0003048	0003048		90647	C0022387	D029593	potassium voltage-gated channel subfamily Q member 1; potassium voltage-gated channel subfamily E regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jervell and Lange-Nielsen syndrome"	251
Jeune thoracic dystrophy	asphyxiating thoracic dystrophy//asphyxiating thoracic dystrophy of the newborn//atd1//chondroectodermal dysplasia-like syndrome//infantile thoracic dystrophy//jatd//jeune asphyxiating thoracic dystrophy//jeune syndrome//jeune thoracic dysplasia//jeune's syndrome//short-rib thoracic dysplasia//short-rib thoracic dysplasia with or without polydactyly//thoracic pelvic phalangeal dystrophy	DYNC2H1;IFT80;WDR19;DYNC2LI1;IFT172;DYNC2I2;CEP120;DYNC2I1;KIAA0753;TTC21B;IFT140	DYNC2H1;IFT80;WDR19;DYNC2LI1;IFT172;DYNC2I2;CEP120;DYNC2I1;KIAA0753;TTC21B;IFT140	https://raresource.nih.gov/literature/disease/0003049	0003049		474	C0265275	C537571	dynein cytoplasmic 2 heavy chain 1; intraflagellar transport 80; WD repeat domain 19; dynein cytoplasmic 2 light intermediate chain 1; intraflagellar transport 172; dynein 2 intermediate chain 2; centrosomal protein 120; dynein 2 intermediate chain 1; KIAA0753; tetratricopeptide repeat domain 21B; intraflagellar transport 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jeune thoracic dystrophy"	322
Juberg-Hayward syndrome	cleft lip/palate with abnormal thumbs and microcephaly//cleft lip/palate-abnormal thumbs-microcephaly syndrome//jhs//orocraniodigital syndrome	ESCO2	ESCO2	https://raresource.nih.gov/literature/disease/0003060	0003060	216100	2319	C0796099	C537690	establishment of sister chromatid cohesion N-acetyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juberg-Hayward syndrome"	160
Juvenile polyposis syndrome	jip//jps//juvenile gastrointestinal polyposis//juvenile intestinal polyposis//juvenile multiple polyps syndrome//juvenile polyposis//juvenile polyposis of intestine//polyposis, juvenile intestinal	SMAD4;BMPR1A	SMAD4;BMPR1A	https://raresource.nih.gov/literature/disease/0003065	0003065		2929	C0345893		SMAD family member 4; bone morphogenetic protein receptor type 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile polyposis syndrome"	587
Congenital hypotrichosis with juvenile macular dystrophy	hjmd//hypotrichosis with cone-rod dystrophy//hypotrichosis with juvenile macular degeneration//hypotrichosis with juvenile macular dystrophy	CDH3	CDH3	https://raresource.nih.gov/literature/disease/0003066	0003066	601553	1573	C1832162	C537698	cadherin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital hypotrichosis with juvenile macular dystrophy"	29
Hypogonadotropic hypogonadism 2 with or without anosmia	fgfr1 hypogonadotropic hypogonadism//hh2//hypogonadotropic hypogonadism 2 with or without anosmia, susceptibility to//hypogonadotropic hypogonadism 2 without anosmia//hypogonadotropic hypogonadism 2 without anosmia, susceptibility to//hypogonadotropic hypogonadism caused by mutation in fgfr1	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0003070	0003070	147950		C1563720		fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 2 with or without anosmia"	1
Hypogonadotropic hypogonadism 1 with or without anosmia	anos1 hypogonadotropic hypogonadism//hh1//hypogonadotropic hypogonadism 1 with anosmia//hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1)//hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1), x-linked recessive//hypogonadotropic hypogonadism and anosmia//hypogonadotropic hypogonadism caused by mutation in anos1//kallmann syndrome, type 1, x-linked	ANOS1	ANOS1	https://raresource.nih.gov/literature/disease/0003071	0003071	308700		C1563719		anosmin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 1 with or without anosmia"	89
Hypogonadotropic hypogonadism 3 with or without anosmia	hh3//hypogonadotropic hypogonadism 3 with anosmia//hypogonadotropic hypogonadism caused by mutation in prokr2//prokr2 hypogonadotropic hypogonadism	PROKR2	PROKR2	https://raresource.nih.gov/literature/disease/0003073	0003073	244200		C3550478		prokineticin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 3 with or without anosmia"	569
Kaposiform hemangioendothelioma		GNA14	GNA14	https://raresource.nih.gov/literature/disease/0003077	0003077		2122	C1367420	C537007	G protein subunit alpha 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kaposiform hemangioendothelioma"	416
Oculocerebrofacial syndrome, Kaufman type	blepharophimosis-ptosis-intellectual disability syndrome//bpids//kaufman oculocerebrofacial syndrome	UBE3B	UBE3B	https://raresource.nih.gov/literature/disease/0003084	0003084	244450	2707	C1855663	C537013	ubiquitin protein ligase E3B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocerebrofacial syndrome, Kaufman type"	23
Autosomal dominant keratitis	hereditary keratitis//keratitis, autosomal dominant//keratitis, hereditary	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0003089	0003089	148190	2334	C1835698	C537022	paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant keratitis"	9
Multiple self-healing squamous epithelioma	familial primary self-healing squamous epithelioma of the skin, ferguson-smith type//ferguson-smith disease//ferguson-smith syndrome//ferguson-smith tumor//ferguson-smith tumour//msse//multiple keratoacanthoma, ferguson-smith type//multiple self healing epithelioma of ferguson-smith//multiple self-healing epithelioma of ferguson-smith//multiple self-healing squamous epithelioma, susceptibility to//self-healing squamous epithelioma type 1	TGFBR1	TGFBR1	https://raresource.nih.gov/literature/disease/0003090	0003090	132800	65748	C0546476	C536150	transforming growth factor beta receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple self-healing squamous epithelioma"	42
Mutilating keratoderma	keratoderma hereditarium mutilans//mutilating keratoderma of vohwinkel//mutilating keratoderma plus deafness//mutilating keratoderma plus hearing loss//ppk mutilans and deafness//ppk mutilans and hearing loss//vohwinkel syndrome//vohwinkel's mutilating keratoderma//vownkl	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0003092	0003092	124500	494	C0265964	C536457	gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mutilating keratoderma"	63
Palmoplantar keratoderma-deafness syndrome	diffuse palmoplantar keratoderma with deafness (subtype)//focal palmoplantar keratoderma with sensorineural deafness (subtype)//hereditary palmoplantar keratoderma with deafness (subtype)//keratoderma palmoplantar, with deafness//palmoplantar hyperkeratosis-deafness syndrome//palmoplantar hyperkeratosis-hearing loss syndrome//palmoplantar keratoderma and sensorineural deafness//palmoplantar keratoderma with deafness syndrome//palmoplantar keratoderma-hearing loss syndrome//ppk-deafness syndrome	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0003094	0003094	148350	2202	C1835672	C536152	gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma-deafness syndrome"	1
Papillon-Lefèvre syndrome	juvenile periodontosis with hyperkeratosis//keratosis palmoplantar-periodontopathy syndrome//keratosis palmoplantaris with periodontopathia//pals//papillon lefevre syndrome//papillon-lefevre disease//papillon-lefevre syndrome//pls	CTSC	CTSC	https://raresource.nih.gov/literature/disease/0003100	0003100	245000	678	C0030360	D010214	cathepsin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Papillon-Lefèvre syndrome"	1261
Palmoplantar keratoderma-esophageal carcinoma syndrome	bennion-patterson syndrome//howell-evans syndrome//keratosis palmaris et plantaris with esophageal cancer//keratosis palmoplantaris-esophageal carcinoma syndrome//palmoplantar hyperkeratosis-esophageal carcinoma syndrome//palmoplantar keratoderma with esophageal cancer//toc//tylosis with esophageal cancer//tylosis-oesophageal carcinoma syndrome	RHBDF2	RHBDF2	https://raresource.nih.gov/literature/disease/0003102	0003102	148500	2198	C1835664	C536164	rhomboid 5 homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma-esophageal carcinoma syndrome"	50
Punctate palmoplantar keratoderma type 1	buschke fischer brauer syndrome//buschke-fischer-brauer syndrome//keratodermia palmoplantaris papulosa buschke fischer brauer type//keratodermia palmoplantaris papulosa, buschke-fischer-brauer type//ppkp1	AAGAB	AAGAB	https://raresource.nih.gov/literature/disease/0003103	0003103		79501	C1835662		alpha and gamma adaptin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Punctate palmoplantar keratoderma type 1"	13
Tyrosinemia type II	deficiency of tyrosine aminotransferase//hereditary hypertyrosinemia, type ii//hypertyrosinemia, oregon type//hypertyrosinemia, richner-hanhart type//keratosis palmoplantaris with corneal dystrophy//keratosis palmoplantaris-corneal dystrophy syndrome//oculocutaneous tyrosinemia//oregon type tyrosinemia//persistent hypertyrosinemia//richner syndrome//richner-hanhart syndrome//tat deficiency//tat-gene related hypertyrosinemia richner hanhart type//tyrosine aminotransferase deficiency//tyrosine transaminase deficiency//tyrosinemia due to tat deficiency//tyrosinemia due to tyrosine aminotransferase deficiency//tyrosinemia type 2//tyrosinemia without hepatorenal dysfunction//tyrsn2	TAT	TAT	https://raresource.nih.gov/literature/disease/0003105	0003105	276600	28378	C0268487		tyrosine aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tyrosinemia type II"	2653
Keratitis ichthyosis and deafness syndrome	ichthyosis hystrix rheydt type//keratitis ichthyosis deafness syndrome//keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome//keratitis-ichthyosis-deafness syndrome//keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome//keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome//kid syndrome//kid/hid syndrome//kids - keratitis ichthyosis and deafness syndrome//senter syndrome	GJB6;GJB2	GJB6;GJB2	https://raresource.nih.gov/literature/disease/0003113	0003113		477	C3665333	C536168	gap junction protein beta 6; gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratitis ichthyosis and deafness syndrome"	237
Knuckle pads, deafness AND leukonychia syndrome	bart-pumphrey syndrome//knuckle pads, leukonychia, and sensorineural deafness//knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome//knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome//knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome//knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome//knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0003125	0003125	149200	2698	C0266004	C537210	gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Knuckle pads, deafness AND leukonychia syndrome"	14
Familial partial lipodystrophy, Dunnigan type	dunnigan syndrome//familial lipodystrophy of limbs and lower trunk//familial partial lipodystrophy type 2//fpld2//lipodystrophy, familial, of limbs and lower trunk//lipodystrophy, reverse partial//partial lipodystrophy, dunnigan//reverse partial lipodystrophy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0003126	0003126	151660	2348	C1720860		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial partial lipodystrophy, Dunnigan type"	104
Amelocerebrohypohidrotic syndrome	epilepsy and yellow teeth//epilepsy, dementia and amelogenesis imperfecta//epilepsy, dementia, and amelogenesis imperfecta//epilepsy, mental deterioration and yellow teeth//epilepsy-dementia-amelogenesis imperfecta syndrome//kohlschutter syndrome//kohlschutter's syndrome//kohlschutter-tonz syndrome//kohlschütter-tönz syndrome//ktzs	ROGDI	ROGDI	https://raresource.nih.gov/literature/disease/0003128	0003128	226750	1946	C0406740	C537213	rogdi atypical leucine zipper	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelocerebrohypohidrotic syndrome"	36
Hereditary hyperekplexia	congenital stiff man syndrome//familial startle disease//hereditary hyperexplexia//kok disease//startle disease//stiff baby syndrome	GPHN;SLC6A5;GLRA1;ATAD1;GLRB	GPHN;SLC6A5;GLRA1;ATAD1;GLRB	https://raresource.nih.gov/literature/disease/0003129	0003129		3197	C1835614		gephyrin; solute carrier family 6 member 5; glycine receptor alpha 1; ATPase family AAA domain containing 1; glycine receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hyperekplexia"	188
Arthrogryposis-like syndrome	kuskokwim disease//kuskokwim syndrome	FKBP10	FKBP10	https://raresource.nih.gov/literature/disease/0003150	0003150		1149	C1859709		FKBP prolyl isomerase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis-like syndrome"	5
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	glycogen storage disease caused by mutation in ldha//glycogen storage disease xi//glycogenosis due to lactate dehydrogenase m-subunit deficiency//gsd due to lactate dehydrogenase m-subunit deficiency//gsd xi//lactate dehydrogenase a deficiency//ldh-m subunit deficiency//ldha glycogen storage disease	LDHA	LDHA	https://raresource.nih.gov/literature/disease/0003160	0003160	612933	284426	C2931743	C538133	lactate dehydrogenase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	10
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	glycogenosis due to lactate dehydrogenase h-subunit deficiency//gsd due to lactate dehydrogenase h-subunit deficiency//lactate dehydrogenase b deficiency//lactate dehydrogenase-b deficiency//ldh-h subunit deficiency	LDHB	LDHB	https://raresource.nih.gov/literature/disease/0003161	0003161	614128	284435	C3279904	C563641	lactate dehydrogenase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"	706
Mitochondrial DNA depletion syndrome 9	fatal infantile lactic acidosis//fatal infantile lactic acidosis with methylmalonic aciduria//mitochondrial dna depletion syndrome caused by mutation in suclg1//mitochondrial dna depletion syndrome type 9//mtdps9//suclg1 mitochondrial dna depletion syndrome//suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria//suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria	SUCLG1	SUCLG1	https://raresource.nih.gov/literature/disease/0003163	0003163	245400	17	C3151476	C538134;C566885	succinate-CoA ligase GDP/ADP-forming subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 9"	13
Autosomal recessive congenital ichthyosis 1	arci1//autosomal recessive congenital ichthyosis type 1//collodion fetus//desquamation of newborn//ichthyosis congenita//ichthyosis congenita ii//ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution//ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution//ichthyosis, congenital, autosomal recessive type 1//lamellar exfoliation of newborn//li1	TGM1	TGM1	https://raresource.nih.gov/literature/disease/0003170	0003170			C4551630	D017490	transglutaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 1"	44
Early-onset parkinsonism-intellectual disability syndrome	basal ganglia disorder with mental retardation//basal ganglion disorder with mental retardation//early onset parkinsonism and intellectual disability syndrome//laxova brown hogan syndrome//laxova opitz syndrome//laxova-opitz syndrome//waisman syndrome//waisman syndrome, x-linked recessive//wsmn//x-linked recessive basal ganglia disorder with mental retardation	RAB39B	RAB39B	https://raresource.nih.gov/literature/disease/0003203	0003203	311510	2379	C0796195	C537179	RAB39B, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset parkinsonism-intellectual disability syndrome"	7
Branchiooculofacial syndrome	bof syndrome//bofs//bofs syndrome//branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing//branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging//branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature ageing//branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging//hemangiomatous branchial clefts-lip pseudocleft syndrome//lip pseudocleft-hemangiomatous branchial cyst syndrome	TFAP2A	TFAP2A	https://raresource.nih.gov/literature/disease/0003212	0003212	113620	1297	C0376524		transcription factor AP-2 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiooculofacial syndrome"	59
Lenz-Majewski hyperostosis syndrome	hyperostotic dwarfism lenz-majewski type//lenz-majewski dysplasia//lenz-majewski hyperostotic dwarfism//lenz-majewski hyperostotic dysplasia//lenz-majewski syndrome//lmhd//multiple congenital anomalies, mental retardation and progressive skeletal sclerosis	PTDSS1	PTDSS1	https://raresource.nih.gov/literature/disease/0003223	0003223	151050	2658	C0432269	C537115	phosphatidylserine synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lenz-Majewski hyperostosis syndrome"	31
Leri-Weill dyschondrosteosis	dyschondrosteosis//leri-weill dyschondrosteosis, pseudoautosomal dominant//leri-weill dyschondrostosis//leri-weill syndrome//lwd//léri-weill dyschondrosteosis//léri-weill syndrome//shox-related haploinsufficiency disorders	SHOX	SHOX	https://raresource.nih.gov/literature/disease/0003224	0003224	127300	240	C0265309		SHOX homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leri-Weill dyschondrosteosis"	328
Lethal congenital contracture syndrome 1	gle1 lethal congenital contracture syndrome//herva disease//lccs1//lethal congenital contracture syndrome caused by mutation in gle1//lethal congenital contracture syndrome type 1//multiple contracture syndrome finnish type//multiple contracture syndrome, finnish type	GLE1	GLE1	https://raresource.nih.gov/literature/disease/0003227	0003227	253310	1486	C1854664	C537194	GLE1 RNA export mediator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 1"	8
Metachromatic leukodystrophy	arsa deficiency//arylsulfatase a deficiency//cerebral sclerosis diffuse metachromatic form//cerebroside sulfatase deficiency//deficiency of cerebroside-sulfatase//familial progressive cerebral sclerosis//metachromatic leucodystrophy//metachromatic leukoencephalopathy//metachromatic leukoencephaly//mld//mld - metachromatic leucodystrophy//scholz cerebral sclerosis//sulfatide lipidosis//sulfatide lipoidosis//van bogaert-nijssen disease	ARSA	ARSA	https://raresource.nih.gov/literature/disease/0003230	0003230		512	C0023522	D007966	arylsulfatase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metachromatic leukodystrophy"	1755
Ravine syndrome	progressive encephalopathy with severe infantile anorexia//reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome	SLC7A2-IT1	SLC7A2-IT1	https://raresource.nih.gov/literature/disease/0003231	0003231		99852	C4275006		SLC7A2 intronic transcript 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ravine syndrome"	None
Autosomal dominant popliteal pterygium syndrome	cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies//faciogenitopopliteal syndrome//popliteal pterygium syndrome 1//popliteal pterygium syndrome, autosomal dominant//popliteal web syndrome	IRF6	IRF6	https://raresource.nih.gov/literature/disease/0003242	0003242	119500	1300	C5848052		interferon regulatory factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant popliteal pterygium syndrome"	1285
Pyruvate dehydrogenase E3 deficiency	congenital infantile lactic acidosis due to lad deficiency//cytochrome-b reductase deficiency//deficiency of diaphorase//deficiency of dihydrolipoamide dehydrogenase//deficiency of lipoamide reductase (nadh)//diaphorase deficiency//dihydrolipoamide dehydrogenase (e3) deficiency//dihydrolipoamide dehydrogenase deficiency//dihydrolipoamide dehydrogenase e3 deficiency//dihydrolipoyl dehydrogenase deficiency//dld - dihydrolipoamide dehydrogenase deficiency//dld deficiency//dldd//e3 deficiency//e3-deficient maple syrup urine disease//lactic acidosis due to lad deficiency//lipoamide dehydrogenase deficiency//lipoamide dehydrogenase deficiency, lactic acidosis due to//maple syrup urine disease with lactic acidosis//maple syrup urine disease, type iii	DLD	DLD	https://raresource.nih.gov/literature/disease/0003263	0003263	246900	2394	C5574660		dihydrolipoamide dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E3 deficiency"	79
Lipid proteinosis	hyalinosis cutis et mucosae//lipoid proteinosis//lipoid proteinosis of urbach and wiethe//lipoidosis cutis et mucosae//lipoproteinosis//urbach wiethe disease//urbach-wiethe disease	ECM1	ECM1	https://raresource.nih.gov/literature/disease/0003268	0003268	247100	530	C0023795	D008065	extracellular matrix protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipid proteinosis"	547
Long QT syndrome 2	long qt syndrome type 2//long qt syndrome, acquired, reduced susceptibility to//lqt2	KCNH2;ALG10B	KCNH2;ALG10B	https://raresource.nih.gov/literature/disease/0003285	0003285	613688		C3150943	C563614	potassium voltage-gated channel subfamily H member 2; ALG10 alpha-1,2-glucosyltransferase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 2"	353
Long QT syndrome 3	long qt syndrome caused by mutation in scn5a//long qt syndrome type 3//lqt3//scn5a long qt syndrome//scn5a-related romano ward syndrome	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0003286	0003286	603830		C1859062	C565840	sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 3"	283
Lowe syndrome	cerebro-oculorenal dystrophy//lowe disease//lowe oculo-cerebro-renal dystrophy//lowe oculo-cerebro-renal syndrome//lowe oculocerebrorenal dystrophy//lowe oculocerebrorenal syndrome//lowe syndrome, x-linked recessive//lowe-bickel syndrome//lowe-terrey-maclachlan syndrome//ocr//ocrl//oculo-cerebro-renal dystrophy//oculo-cerebro-renal syndrome//oculocerebrorenal dystrophy//oculocerebrorenal syndrome//oculocerebrorenal syndrome of lowe//phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency//phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency//renal-oculocerebrodystrophy	OCRL	OCRL	https://raresource.nih.gov/literature/disease/0003295	0003295	309000	534	C0028860	D009800	OCRL inositol polyphosphate-5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lowe syndrome"	474
X-linked intellectual disability with marfanoid habitus	intellectual developmental disorder, x-linked, syndromic, lujan-fryns type//lujan syndrome//lujan-fryns syndrome//lujan-fryns syndrome, x-linked recessive//x-linked mental retardation with marfanoid habitus syndrome	MED12	MED12	https://raresource.nih.gov/literature/disease/0003307	0003307	309520	776	C0796022	C537724	mediator complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability with marfanoid habitus"	42
Cerebellar ataxia-hypogonadism syndrome	cerebellar ataxia and hypogonadotropic hypogonadism//cerebellar ataxia hypogonadotropic hypogonadism//gordon holmes syndrome//gordon-holmes syndrome//lhrh deficiency and ataxia//luteinizing hormone releasing hormone, deficiency of with ataxia//luteinizing hormone-releasing hormone deficiency with ataxia//progressive cerebellar ataxia with hypogonadism	RNF216	RNF216	https://raresource.nih.gov/literature/disease/0003314	0003314	212840	1173	C1859305	C565870	ring finger protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia-hypogonadism syndrome"	43
Hennekam lymphangiectasia-lymphedema syndrome	hennekam syndrome//intestinal lymphagiectasia lymphedema intellectual deficit syndrome//lymphangiectasies and lymphedema hennekam type//lymphedem-lymphangiectasia-intellectual disability syndrome//lymphedema, lymphangiectasia, intellectual disability syndrome//lymphedema-lymphangiectasia-intellectual disability syndrome	CCBE1;ADAMTS3;FAT4	CCBE1;ADAMTS3;FAT4	https://raresource.nih.gov/literature/disease/0003318	0003318		2136	C0340834		collagen and calcium binding EGF domains 1; ADAM metallopeptidase with thrombospondin type 1 motif 3; FAT atypical cadherin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hennekam lymphangiectasia-lymphedema syndrome"	61
Lung lymphangioleiomyomatosis	lam//lung lymphangiomyomatosis//pulmonary lymphangioleiomyomatosis	TSC1;TSC2	TSC1;TSC2	https://raresource.nih.gov/literature/disease/0003319	0003319		538	C0349649		TSC complex subunit 1; TSC complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lung lymphangioleiomyomatosis"	1349
Lymphedema praecox	hereditary lymphedema ii//hereditary lymphedema type ii//late-onset lymphedema//late-onset primary lymphedema//lmph2//lmphm5//lymphatic malformation 5//lymphedema preacox//lymphedema, late-onset//meige disease//meige lymphedema	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0003324	0003324	153200	90186	C4746631	C562467	EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphedema praecox"	39
Hereditary lymphedema type I	congenital hereditary lymphedema//congenital primary lymphedema//early onset lymphedema//flt4 hereditary lymphedema//hereditary lymphedema 1//hereditary lymphedema caused by mutation in flt4//lmph1a//lmphm1//lymphatic malformation 1//lymphedema, early-onset//lymphedema, hereditary, 1a//lymphedema, hereditary, type 1a//meige's disease//milroy disease//milroy lymphedema//milroy's disease//nonne's syndrome//nonne-milroy disease//nonne-milroy lymphedema//nonne-milroy syndrome//nonne-milroy-meige syndrome//nonne’s syndrome//primary congenital lymphedema	FLT4	FLT4	https://raresource.nih.gov/literature/disease/0003328	0003328	153100	79452	C1704423		fms related receptor tyrosine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary lymphedema type I"	190
Lysinuric protein intolerance	congenital lysinuria//dibasic amino aciduria ii//hyperdibasic aminoaciduria//hyperdibasic aminoaciduria type 2//lpi//lpi - lysinuric protein intolerance	SLC7A7	SLC7A7	https://raresource.nih.gov/literature/disease/0003335	0003335	222700	470	C0268647	C562687	solute carrier family 7 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lysinuric protein intolerance"	330
Beckwith-Wiedemann syndrome	beckwith's syndrome//bws//emg syndrome//exomphalos macroglossia gigantism syndrome//exomphalos-macroglossia-gigantism syndrome//wiedemann-beckwith syndrome	IGF2;CDKN1C;KCNQ1OT1;KCNQ1	IGF2;CDKN1C;KCNQ1OT1;KCNQ1	https://raresource.nih.gov/literature/disease/0003343	0003343	130650	116	C0004903	D001506	insulin like growth factor 2; cyclin dependent kinase inhibitor 1C; KCNQ1 opposite strand/antisense transcript 1; potassium voltage-gated channel subfamily Q member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beckwith-Wiedemann syndrome"	1757
Renal hypomagnesemia 2	autosomal dominant primary hypomagnesemia with hypocalciuria//familial primary hypomagnesemia caused by mutation in fxyd2//fxyd2 familial primary hypomagnesemia//fxyd2 primary hypomagnesemia//homg2//homg2 - renal hypomagnesemia type 2//isolated autosomal dominant hypomagnesemia//isolated renal magnesium wasting//magnesium loss, isolated renal//primary hypomagnesemia caused by mutation in fxyd2//renal hypomagnesemia type 2	FXYD2	FXYD2	https://raresource.nih.gov/literature/disease/0003350	0003350	154020	34528	C1835171	C537152	FXYD domain containing ion transport regulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypomagnesemia 2"	7276
Deficiency of malonyl-CoA decarboxylase	deficiency of malonyl-coenzyme a decarboxylase//malonic aciduria//malonyl-coa decarboxylase deficiency//mcd deficiency//mlycd-gene related malonic aciduria	MLYCD	MLYCD	https://raresource.nih.gov/literature/disease/0003371	0003371	248360	943	C0342793	C535702	malonyl-CoA decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of malonyl-CoA decarboxylase"	8625
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	cardiogenital syndrome//cardiomyopathy with primary testicular failure//cardiomyopathy, congestive, with hypergonadotropic hypogonadism//cardiomyopathy, dilated, with hypergonadotropic hypogonadism//cardiomyopathy, dilated, with premature ovarian failure//genital anomaly with cardiomyopathy//malouf syndrome//najjar syndrome	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0003373	0003373	212112	2229	C0796031		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"	8
Mandibuloacral dysplasia with type A lipodystrophy	lipodystrophy, type a, associated with mandibuloacral dysplasia//mada//mandibuloacral dysostosis co-occurrent with type a lipodystrophy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0003374	0003374	248370	90153	C5399785	C535705	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibuloacral dysplasia with type A lipodystrophy"	21
Van den Ende-Gupta syndrome	blepharophimosis, arachnodactyly, and congenital contractures//marden walker like syndrome//marden-walker-like syndrome//vdegs	SCARF2	SCARF2	https://raresource.nih.gov/literature/disease/0003382	0003382	600920	2460	C1833136	C535909	scavenger receptor class F member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van den Ende-Gupta syndrome"	22
Marie Unna syndrome	hr hypotrichosis//hypotrichosis caused by mutation in hr//hypotrichosis, marie unna type//marie unna congenital hypotrichosis//marie unna hereditary hypotrichosis//muhh	EPS8L3;HR	EPS8L3;HR	https://raresource.nih.gov/literature/disease/0003390	0003390		444	C2931059	C535912	EPS8 signaling adaptor L3; HR lysine demethylase and nuclear receptor corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marie Unna syndrome"	39
Oculotrichoanal syndrome	manitoba oculotrichoanal syndrome//marles syndrome//marles-greenberg-persaud syndrome//marles-greenburg-persaud syndrome//mota//mota - manitoba oculotrichoanal syndrome//mota syndrome	FREM1	FREM1	https://raresource.nih.gov/literature/disease/0003395	0003395	248450	2717	C1855425	C536022	FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculotrichoanal syndrome"	15
Osteocraniostenosis	gcleb//gracile bone dysplasia//habrodysplasia//osteocraniosplenic syndrome//skeletal dysplasia, lethal, with gracile bones	FAM111A	FAM111A	https://raresource.nih.gov/literature/disease/0003396	0003396	602361	2763	C1865639	C537291	FAM111 trypsin like peptidase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteocraniostenosis"	27
Martsolf syndrome 1	cataract-intellectual disability-hypogonadism syndrome//cataract-mental retardation-hypogonadism	RAB3GAP2	RAB3GAP2	https://raresource.nih.gov/literature/disease/0003406	0003406	212720	1387	C5542298	C536028	RAB3 GTPase activating non-catalytic protein subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Martsolf syndrome 1"	None
Maternal phenylketonuria	hyperphenylalaninemic embryopathy//maternal hyperphenylalaninemia//maternal pku//maternal pku (phenylketonuria)//pah-gene related maternal phenylketonuria//phenylketonuric embryopathy	PAH	PAH	https://raresource.nih.gov/literature/disease/0003413	0003413		2209	C0085547	D017042	phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternal phenylketonuria"	342
Maturity-onset diabetes of the young type 1	diabetes mellitus mody type 1//diabetes mellitus type 2//hepatocyte nuclear factor 4-alpha associated monogenic diabetes//hnf4a (hepatocyte nuclear factor 4 alpha) monogenic diabetes mellitus//hnf4a-associated monogenic diabetes//hnf4a-related maturity-onset diabetes of the young type 1//mild juvenile diabetes mellitus//mody hnf4a related//mody type 1//mody, type i//mody1//mody1 (maturity onset diabetes of the young type 1)	HNF4A	HNF4A	https://raresource.nih.gov/literature/disease/0003418	0003418	125850		C1852093	C565101	hepatocyte nuclear factor 4 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 1"	2747
Familial scaphocephaly syndrome, McGillivray type	scaphocephaly, maxillary retrusion, and impaired intellectual development//scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0003426	0003426	609579	168624	C1865070	C566511	fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial scaphocephaly syndrome, McGillivray type"	2174
McKusick-Kaufman syndrome	hydrometrocolpos syndrome//hydrometrocolpos, postaxial polydactyly, and congenital heart malformation//hydrometrocolpos-postaxial polydactyly syndrome//kaufman-mckusick syndrome//mkks	MKKS	MKKS	https://raresource.nih.gov/literature/disease/0003427	0003427	236700	2473	C0948368	C538159	MKKS centrosomal shuttling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=McKusick-Kaufman syndrome"	100
Meacham syndrome	meacham winn culler syndrome//meacham-winn-culler syndrome//rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome	WT1	WT1	https://raresource.nih.gov/literature/disease/0003432	0003432	608978	3097	C1837026	C538162	WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meacham syndrome"	6
Meckel-Gruber syndrome	dysencephalia splachnocystica//dysencephalia splanchnocystica//gruber syndrome//meckel syndrome	TCTN1;TMEM107;MKS1;B9D1;TCTN3;B9D2;CC2D2A;TMEM237;TMEM216;TMEM231;CSPP1;TMEM67;CEP290;TCTN2;RPGRIP1L;TXNDC15	TCTN1;TMEM107;MKS1;B9D1;TCTN3;B9D2;CC2D2A;TMEM237;TMEM216;TMEM231;CSPP1;TMEM67;CEP290;TCTN2;RPGRIP1L;TXNDC15	https://raresource.nih.gov/literature/disease/0003436	0003436		564	C0265215		tectonic family member 1; transmembrane protein 107; MKS transition zone complex subunit 1; B9 domain containing 1; tectonic family member 3; B9 domain containing 2; coiled-coil and C2 domain containing 2A; transmembrane protein 237; transmembrane protein 216; transmembrane protein 231; centrosome and spindle pole associated protein 1; transmembrane protein 67; centrosomal protein 290; tectonic family member 2; RPGRIP1 like; thioredoxin domain containing 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel-Gruber syndrome"	467
Hereditary hollow viscus myopathy	familial hollow visceral myopathy//familial visceral myopathy//hereditary hollow visceral myopathy//megaduodenum and/or megacystis	ACTG2	ACTG2	https://raresource.nih.gov/literature/disease/0003443	0003443		2604	C0266833		actin gamma 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hollow viscus myopathy"	30
Megalencephalic leukoencephalopathy with subcortical cysts	infantile leukoencephalopathy and megalencephaly//leukoencephalopathy with swelling and cysts//megalencephalic leukodystrophy//megalencephalic leukoencephalopathy with subcortical cysts type 1//megalencephaly-cystic leukodystrophy syndrome//mlc//vacuolating leukoencephalopathy//vacuolating megalencephalic leukoencephalopathy with subcortical cysts//van der knaap disease//van der knaap syndrome//van der knapp disease	HEPACAM;MLC1	HEPACAM;MLC1	https://raresource.nih.gov/literature/disease/0003445	0003445		2478	C1858854	C536141	hepatic and glial cell adhesion molecule; modulator of VRAC current 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephalic leukoencephalopathy with subcortical cysts"	330
Renal hypomagnesemia 5 with ocular involvement	bilateral macular coloboma with hypercalciuria//familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement//fhhnc with severe ocular involvement//fhhncoi//hypercalciuria-bilateral macular coloboma syndrome//hypomagnesemia 5, renal, with or without ocular involvement//hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement//hypomagnesemia, renal, with ocular involvement//macular coloboma, bilateral, with hypercalciuria//meier-blumberg-imahorn syndrome//primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	CLDN19	CLDN19	https://raresource.nih.gov/literature/disease/0003451	0003451	248190	2196	C4721891	C536148	claudin 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypomagnesemia 5 with ocular involvement"	None
Severe intellectual disability-progressive spastic diplegia syndrome	autosomal dominant intellectual disability 19//autosomal dominant mental retardation 19//ctnnb1 syndrome//intellectual disability, autosomal dominant type 19//mental retardation, autosomal dominant type 19//mrd19//nedsdv//neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB1	CTNNB1	https://raresource.nih.gov/literature/disease/0003505	0003505	615075	404473	C3554449		catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-progressive spastic diplegia syndrome"	29
X-linked intellectual disability-psychosis-macroorchidism syndrome	intellectual developmental disorder, x-linked, syndromic 13//intellectual developmental disorder, x-linked, syndromic 13, x-linked recessive//intellectual disability with psychosis, pyramidal signs, and macroorchidism//intellectual disability, x-linked, syndromic 13//intellectual disability, x-linked, syndromic type 13//lindsay burn syndrome//lindsay-burn syndrome//mental retardation with psychosis, pyramidal signs, and macroorchidism//mental retardation, x-linked, syndromic 13//mental retardation, x-linked, syndromic type 13//mrxs13//ppm-x//ppm-x syndrome//ppmx - mental retardation with psychosis, pyramidal signs, and macroorchidism//x-linked intellectual disability 79//x-linked intellectual disability with spasticity//x-linked mental retardation 79//x-linked mental retardation with spasticity//x-linked mental retardation, syndromic 13	MECP2	MECP2	https://raresource.nih.gov/literature/disease/0003506	0003506	300055	3077	C0796222		methyl-CpG binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-psychosis-macroorchidism syndrome"	5
Intellectual disability-hypotonic facies syndrome, X-linked, 1	carpenter-waziri syndrome//chudley lowry hoar syndrome//chudley syndrome 1//chudley-lowry syndrome//chudley-lowry-hoar syndrome//holmes-gang syndrome//intellectual disability-hypotonic facies syndrome, x-linked, type 1//mental retardation-hypotonic facies syndrome, x-linked, type 1//mental retardation-hypotonic facies syndrome, x-linked, x-linked recessive//mrxhf1//sfms//smith fineman myers syndrome 1//smith-fineman-myers syndrome//x-linked intellectual disability-hypotonic face syndrome//xlmr-hypotonic facies syndrome	ATRX	ATRX	https://raresource.nih.gov/literature/disease/0003521	0003521	309580		C4759781	C537445	ATRX chromatin remodeler	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-hypotonic facies syndrome, X-linked, 1"	30
Brunner syndrome	antisocial behavior, x-linked recessive//brnrs//brunner syndrome, x-linked recessive//deficiency of monoamine oxidase a//monoamine oxidase a deficiency	MAOA	MAOA	https://raresource.nih.gov/literature/disease/0003531	0003531	300615	3057	C0796275	C563156	monoamine oxidase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brunner syndrome"	26
Langer mesomelic dysplasia syndrome	dyschondrosteosis, homozygous//homozygous dyschondrosteosis//homozygous leri-weill dyschondrosteosis syndrome//langer mesomelic dwarfism//langer mesomelic dysplasia//langer mesomelic dysplasia, pseudoautosomal recessive//langer syndrome//langer type mesomelic dysplasia//lmd//mesomelic dwarfism, langer type//mesomelic dysplasia - langer type	SHOX	SHOX	https://raresource.nih.gov/literature/disease/0003553	0003553	249700	2632	C0432230	C537267	SHOX homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Langer mesomelic dysplasia syndrome"	123569
Syndactyly type 8	fgf16 non-syndromic syndactyly//fusion of metacarpal 4 and 5//fusion of metacarpals 4 and 5//metacarpal 4-5 fusion//metacarpal 4-5 fusion, x-linked recessive//metacarpals 4 and 5 fusion//non-syndromic syndactyly caused by mutation in fgf16//syndactyly of fingers type 8	FGF16	FGF16	https://raresource.nih.gov/literature/disease/0003559	0003559	309630	2498	C1839728	C564100	fibroblast growth factor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly type 8"	2
Metachondromatosis	metcds	PTPN11	PTPN11	https://raresource.nih.gov/literature/disease/0003560	0003560	156250	2499	C0410530	C562938	protein tyrosine phosphatase non-receptor type 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metachondromatosis"	61
Metaphyseal anadysplasia	early-onset regressive form of metaphyseal dysplasia//maroteaux-verloes-stanescu syndrome//regressive metaphyseal dysplasia	MMP9;MMP13	MMP9;MMP13	https://raresource.nih.gov/literature/disease/0003562	0003562		1040	C0432226	C537351	matrix metallopeptidase 9; matrix metallopeptidase 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal anadysplasia"	11
Metaphyseal chondrodysplasia, Spahr type	mdst	MMP13	MMP13	https://raresource.nih.gov/literature/disease/0003563	0003563	250400	2501	C0432225	C537353	matrix metallopeptidase 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal chondrodysplasia, Spahr type"	4
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly//metaphyseal dysplasia with maxillary hypoplasia and brachydactyly//metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	RUNX2	https://raresource.nih.gov/literature/disease/0003568	0003568	156510	2504	C3549874		RUNX family transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	3
Metatropic dysplasia	metatropic dwarf//metatropic dwarfism//metatropic dwarfism syndrome//metatropic dysplasia group//metatropic dysplasia i//metatropic dysplasia, nonlethal dominant//mtd	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0003571	0003571	156530	2635	C0265281	C537356	transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metatropic dysplasia"	389
Methylcobalamin deficiency type cblE	functional methionine synthase deficiency type cble//hmae//homocystinuria-megaloblastic anemia, cbl e type//homocystinuria-megaloblastic anemia, cble complementation type//homocystinuria-megaloblastic anemia, cble type//vitamin b12-responsive homocystinuria, cble type	MTRR	MTRR	https://raresource.nih.gov/literature/disease/0003576	0003576	236270	2169	C1856057	C565510	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylcobalamin deficiency type cblE"	None
Methylcobalamin deficiency type cblG	functional methionine synthase deficiency type cblg//hmag//homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type//homocystinuria-megaloblastic anemia, cblg complementation type//homocystinuria-megaloblastic anemia, cblg type	MTR	MTR	https://raresource.nih.gov/literature/disease/0003577	0003577	250940	2170	C1855128		5-methyltetrahydrofolate-homocysteine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylcobalamin deficiency type cblG"	None
Methylmalonic aciduria and homocystinuria type cblD	cbld (variant 1)//cbld (variant 2)//cbld defect//cobalamin d defect//cobalamin d deficiency//cobalamin d disease//combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld//mahcd//methylmalonic acidemia with homocystinuria, type cbld//methylmalonic acidemia, cblh type//methylmalonic aciduria with homocystinuria cbld type//methylmalonic aciduria with homocystinuria, type cbld	MMADHC	MMADHC	https://raresource.nih.gov/literature/disease/0003582	0003582	277410	79283	C1848552	C564743	metabolism of cobalamin associated D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic aciduria and homocystinuria type cblD"	8
Methylmalonic aciduria and homocystinuria type cblF	cblf defect//cobalamin f defect//cobalamin f deficiency//cobalamin f disease//cobalamin, defect in lysosomal release of//combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf//inherited methylmalonic acidemia and homocystinuria//lysosomal membrane cobalamin transporter deficiency//methylmalonic acidemia and homocystinuria, cblf type//methylmalonic acidemia with homocystinuria type cblf//methylmalonic aciduria due to vitamin b12-release defect//methylmalonic aciduria with homocystinuria, type cblf//vitamin b12 lysosomal release defect//vitamin b12 storage disease	LMBRD1	LMBRD1	https://raresource.nih.gov/literature/disease/0003584	0003584	277380	79284	C1848578	C564747	LMBR1 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic aciduria and homocystinuria type cblF"	8
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	mamm//methylmalonic acidemia due to methylmalonyl-coa mutase deficiency//methylmalonic aciduria mut type//methylmalonic aciduria, mut type//methylmalonyl-coa mutase deficiency//methylmalonyl-coenzyme a mutase deficiency//mut-related methylmalonic acidemia//vitamin b12-unresponsive methylmalonic acidemia//vitamin b12-unresponsive methylmalonic aciduria	MMUT	MMUT	https://raresource.nih.gov/literature/disease/0003586	0003586	251000	27	C1855114	C565390	methylmalonyl-CoA mutase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"	82137
Mevalonic aciduria	complete mevalonate kinase deficiency//hids//hyperimmunoglobulin d with periodic fever syndrome//meva//mkd//mva	MVK	MVK	https://raresource.nih.gov/literature/disease/0003588	0003588	610377	29	C1959626		mevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mevalonic aciduria"	414
Michelin-tire baby	ccsf//circumferential skin creases, kunze type//congenital circumferential skin folds//cscsc//kunze-riehm syndrome//lipomatous hypertrophy//michelin tire baby syndrome//multiple benign circumferential skin creases on limbs	MAPRE2;TUBB	MAPRE2;TUBB	https://raresource.nih.gov/literature/disease/0003589	0003589		2505	C0473586	C537575	microtubule associated protein RP/EB family member 2; tubulin beta class I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Michelin-tire baby"	100
Autosomal dominant primary microcephaly	microcephaly (disease), autosomal dominant//microcephaly with autosomal dominant inheritance	LMNB1;DPP6	LMNB1;DPP6	https://raresource.nih.gov/literature/disease/0003605	0003605	156580	2514	C0220693	C537323	lamin B1; dipeptidyl peptidase like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant primary microcephaly"	None
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	chorioretinal dysplasia-microcephaly-mental retardation syndrome//kif11-associated disorder//lymphedema and retinal folds with ficrocephaly and microphthalmos//lymphedema, microcephaly and chorioretinopathy syndrome//lymphedema, microcephaly, chorioretinopathy syndrome//mclmr//microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant//microcephaly lymphedema chorioretinal dysplasia//microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development//microcephaly with or without chorioretinopathy, lymphedema, or mental retardation//microcephaly, lymphedema, chorioretinal dysplasia syndrome//microcephaly-lymphedema-chorioretinopathy syndrome//mlcrd//mlcrd syndrome	KIF11	KIF11	https://raresource.nih.gov/literature/disease/0003622	0003622	152950	2526	C1835265	C537711	kinesin family member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	27
Autosomal dominant omodysplasia	omodysplasia 2//omodysplasia, autosomal dominant	FZD2	FZD2	https://raresource.nih.gov/literature/disease/0003643	0003643	164745	93328	C2750355	C567664	frizzled class receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant omodysplasia"	13009
Microphthalmia, isolated, with coloboma	colobomatous microphthalmia//mac//microphthalmia with colobomatous cyst//microphthalmia-anophthalmia-coloboma syndrome	ABCB6;STRA6;RAX;VSX2;RBP4;SOX2;ALDH1A3;OTX2;SHH;PORCN;TENM3;GDF3	ABCB6;STRA6;RAX;VSX2;RBP4;SOX2;ALDH1A3;OTX2;SHH;PORCN;TENM3;GDF3	https://raresource.nih.gov/literature/disease/0003644	0003644		98938	C2931500	C537463	ATP binding cassette subfamily B member 6 (LAN blood group); signaling receptor and transporter of retinol STRA6; retina and anterior neural fold homeobox; visual system homeobox 2; retinol binding protein 4; SRY-box transcription factor 2; aldehyde dehydrogenase 1 family member A3; orthodenticle homeobox 2; sonic hedgehog signaling molecule; porcupine O-acyltransferase; teneurin transmembrane protein 3; growth differentiation factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma"	2008
Microphthalmia with brain and digit anomalies	bakrania ragge syndrome//bakrania-ragge syndrome//mcops6//microphthalmia and pituitary anomalies//microphthalmia with brain and digit anomaly//microphthalmia, syndromic type 6//syndromic microphthalmia type 6	BMP4	BMP4	https://raresource.nih.gov/literature/disease/0003645	0003645	607932	139471	C1864689	C566440	bone morphogenetic protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia with brain and digit anomalies"	1
Linear skin defects with multiple congenital anomalies	linear skin defects with multiple congenital anomalies type 1//mcops7//microphthalmia with linear skin defects syndrome//microphthalmia-dermal aplasia-sclerocornea syndrome//midas syndrome//mls syndrome//syndromic microphthalmia type 7	HCCS;COX7B;NDUFB11	HCCS;COX7B;NDUFB11	https://raresource.nih.gov/literature/disease/0003659	0003659		2556	CN263260	C537466	holocytochrome c synthase; cytochrome c oxidase subunit 7B; NADH:ubiquinone oxidoreductase subunit B11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear skin defects with multiple congenital anomalies"	3529
Maternally-inherited Leigh syndrome	maternally inherited infantile subacute necrotizing encephalopathy//maternally inherited leigh disease//maternally-inherited infantile subacute necrotizing encephalopathy//maternally-inherited leigh disease//mils//mitochondrial dna-associated leigh syndrome//mtdna-associated leigh syndrome	MT-ND5;MT-TK;MT-ATP6;MT-TW;MT-ND4;MT-TL1;MT-ND6;MT-ND3;MT-TV;MT-ND1;MT-ND2	MT-ND5;MT-TK;MT-ATP6;MT-TW;MT-ND4;MT-TL1;MT-ND6;MT-ND3;MT-TV;MT-ND1;MT-ND2	https://raresource.nih.gov/literature/disease/0003671	0003671	500017	255210	C2931092	C536035	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5; mitochondrially encoded tRNA-Lys (AAA/G); mitochondrially encoded ATP synthase membrane subunit 6; mitochondrially encoded tRNA-Trp (UGA/G); mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4; mitochondrially encoded tRNA-Leu (UUA/G) 1; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3; mitochondrially encoded tRNA-Val (GUN); mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternally-inherited Leigh syndrome"	32
Hemolytic anemia due to hexokinase deficiency	anemia, congenital, nonspherocytic hemolytic, 5//anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient//cnsha5//hemolytic anaemia due to hexokinase deficiency//hemolytic anemia, nonspherocytic, due to hexokinase deficiency//hexokinase deficiency hemolytic anemia//non-spherocytic hemolytic anemia due to hexokinase deficiency//nonspherocytic hemolytic anaemia due to hexokinase deficiency//nonspherocytic hemolytic anemia due to hexokinase deficiency	HK1	HK1	https://raresource.nih.gov/literature/disease/0003672	0003672	235700	90031	C3150343	C562995	hexokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to hexokinase deficiency"	None
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	booth haworth dilling syndrome//booth-haworth-dilling syndrome//mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria//mitochondrial dna depletion syndrome 5//mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)//mitochondrial dna depletion syndrome type 5//mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related//mitochondrial encephalomyopathy aminoacidopathy//mitochondrial encephalomyopathy aminoacidopathy syndrome//mitochondrial encephalomyopathy-aminoacidopathy syndrome//mtdna (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria//mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria//mtdps5	SUCLA2	SUCLA2	https://raresource.nih.gov/literature/disease/0003681	0003681	612073	1933	C2749864	C567624	succinate-CoA ligase ADP-forming subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"	1
Mitochondrial myopathy-lactic acidosis-deafness syndrome	mitochondrial myopathy with lactic acidosis//mitochondrial myopathy-lactic acidosis-hearing loss syndrome	PNPLA8	PNPLA8	https://raresource.nih.gov/literature/disease/0003682	0003682	251950	2597	C1855033	C537476	patatin like domain 8, phospholipase A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial myopathy-lactic acidosis-deafness syndrome"	1
Mitochondrial trifunctional protein deficiency	human trifunctional protein deficiency//tfp deficiency//tfpd//trifunctional enzyme deficiency//trifunctional protein deficiency	HADHA;HADHB	HADHA;HADHB	https://raresource.nih.gov/literature/disease/0003684	0003684		746	C1969443	C566945	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha; hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial trifunctional protein deficiency"	106
Familial mitral valve prolapse	hereditary mitral valve prolapse (disease)//mitral valve prolapse, familial, autosomal dominant	DCHS1	DCHS1	https://raresource.nih.gov/literature/disease/0003687	0003687		741	C0340364		dachsous cadherin-related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial mitral valve prolapse"	8
Melorheostosis with osteopoikilosis	mixed sclerosing bone dystrophy//msbd (mixed sclerosing bone dystrophy) syndrome//msbd syndrome	LEMD3	LEMD3	https://raresource.nih.gov/literature/disease/0003690	0003690		1879	C3149695	C563593	LEM domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melorheostosis with osteopoikilosis"	12
Syndromic microphthalmia type 5	mcops5//microphthalmia, syndromic type 5//otx2 syndromic microphthalmia//retinal dystrophy, early-onset, with pituitary dysfunction//retinal dystrophy, early-onset, without pituitary dysfunction//syndromic microphthalmia caused by mutation in otx2//syndromic microphthalmia due to orthodenticle homeobox 2 mutation//syndromic microphthalmia due to otx2 mutation//syndromic microphthalmia/anophthalmia due to otx2 mutation	OTX2	OTX2	https://raresource.nih.gov/literature/disease/0003692	0003692	610125	178364	C1864690	C566441	orthodenticle homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic microphthalmia type 5"	3
Maturity onset diabetes mellitus in young	mason-type diabetes//maturity onset diabetes of the young//maturity-onset diabetes of the young//maturity-onset diabetes of the young (disease)//mody//mody - maturity onset diabetes of young	NEUROD1;CEL;INS;HNF4A;GCK;KCNJ11;PDX1;APPL1;BLK;PAX4;ABCC8;KLF11;HNF1A	NEUROD1;CEL;INS;HNF4A;GCK;KCNJ11;PDX1;APPL1;BLK;PAX4;ABCC8;KLF11;HNF1A	https://raresource.nih.gov/literature/disease/0003697	0003697		552	C0342276	C562772	neuronal differentiation 1; carboxyl ester lipase; insulin; hepatocyte nuclear factor 4 alpha; glucokinase; potassium inwardly rectifying channel subfamily J member 11; pancreatic and duodenal homeobox 1; adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1; BLK proto-oncogene, Src family tyrosine kinase; paired box 4; ATP binding cassette subfamily C member 8; KLF transcription factor 11; HNF1 homeobox A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity onset diabetes mellitus in young"	1483
Fryns syndrome	diaphragmatic hernia, abnormal face and distal limb anomalies//diaphragmatic hernia, abnormal face, and distal limb anomalies//diaphragmatic hernia-abnormal face-distal limb anomalies syndrome//frns	PIGN	PIGN	https://raresource.nih.gov/literature/disease/0003699	0003699	229850	2059	C0220730	C538070	phosphatidylinositol glycan anchor biosynthesis class N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fryns syndrome"	256
Mohr syndrome	ofd ii - orofacial-digital syndrome ii//ofd syndrome type ii//ofd2//ofds ii//oral-facial-digital syndrome type 2//oral-facial-digital syndrome, type ii//orofacial-digital syndrome ii//orofaciodigital syndrome ii//orofaciodigital syndrome type 2//orofaciodigital syndrome type ii	NEK1	NEK1	https://raresource.nih.gov/literature/disease/0003701	0003701	252100	2751	C0026363		NIMA related kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mohr syndrome"	48
Mucopolysaccharidosis, MPS-IV-A	deficiency of chondroitinase//deficiency of chondroitinsulfatase//deficiency of galactose-6-sulfate sulfatase//deficiency of n-acetylgalactosamine-6-sulfatase//galactosamine-6-sulfatase deficiency//galactose-6-sulfatase deficiency//galns deficiency//morquio a disease//morquio a syndrome//morquio disease type a//morquio syndrome a//morquio syndrome a, mild//morquio's syndrome, classic form//mps iv a//mps iv-a-mucopolysaccharidosis iv-a//mps iva//mps4a//mpsiva//mucopolysaccharidosis iv-a//mucopolysaccharidosis iva//mucopolysaccharidosis type 4a//mucopolysaccharidosis type iv a//mucopolysaccharidosis type iva//n-acetylgalactosamine-6-sulfatase deficiency//n-acetylgalactosamine-6-sulfate sulfatase deficiency	GALNS	GALNS	https://raresource.nih.gov/literature/disease/0003785	0003785	253000	309297	C0086651		galactosamine (N-acetyl)-6-sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-IV-A"	1061
Mucopolysaccharidosis, MPS-IV-B	beta-d-galactosidase deficiency//morquio b syndrome//morquio disease type b//morquio syndrome b//morquio-like syndrome//mps 4b//mps iv b//mps iv-b - mucopolysaccharidosis iv-b//mps ivb//mps4b//mpsivb//mucopolysaccharidosis iv-b//mucopolysaccharidosis type 4b//mucopolysaccharidosis type iv b//mucopolysaccharidosis type ivb//mucopolysaccharidosis type ivb (morquio)	GLB1	GLB1	https://raresource.nih.gov/literature/disease/0003786	0003786	253010	309310	C0086652		galactosidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-IV-B"	491
Holoprosencephaly-hypokinesia-congenital contractures syndrome	holoprosencephaly with fetal akinesia/hypokinesia sequence//holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome//lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome//morse-rawnsley-sargent syndrome	GPKOW	GPKOW	https://raresource.nih.gov/literature/disease/0003788	0003788	306990	2570	C1844016	C564409	G-patch domain and KOW motifs	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly-hypokinesia-congenital contractures syndrome"	None
Multicentric carpo-tarsal osteolysis with or without nephropathy	carnevale canun mendoza syndrome//idiopathic multicentric osteolysis with or without nephropathy//multicentric carpotarsal osteolysis syndrome//multicentric osteolysis of carpal bones and nephropathy//multicentric osteolysis, autosomal dominant//osteolysis, hereditary, of carpal bones with or without nephropathy	MAFB	MAFB	https://raresource.nih.gov/literature/disease/0003818	0003818	166300	2774	C2674705	C567171	MAF bZIP transcription factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multicentric carpo-tarsal osteolysis with or without nephropathy"	18
Multiple endocrine neoplasia, type 1	endocrine adenomatosis multiple//mea i//mea type 1//mea type i//mea, type 1//men 1//men 1 - multiple endocrine neoplasia syndrome type 1//men 1 syndrome//men i//men type 1//men type i//men, type 1//men1//men1 multiple endocrine neoplasia//men1 syndrome//men1-related multiple endocrine neoplasia//multiple endocrine adenomatosis type 1//multiple endocrine adenomatosis type i//multiple endocrine adenomatosis, type 1//multiple endocrine adenomatosis, type i//multiple endocrine neoplasia 1//multiple endocrine neoplasia caused by mutation in men1//multiple endocrine neoplasia syndrome type 1//multiple endocrine neoplasia type 1 syndrome//multiple endocrine neoplasia type i//multiple endocrine neoplasia, type i//wermer syndrome//wermer's syndrome	MEN1	MEN1	https://raresource.nih.gov/literature/disease/0003829	0003829	131100	652	C0025267	D018761	menin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple endocrine neoplasia, type 1"	2910
Lethal multiple pterygium syndrome	autosomal recessive lethal multiple pterygium syndrome//lmps	CHRND;CHRNA1;CHRNG	CHRND;CHRNA1;CHRNG	https://raresource.nih.gov/literature/disease/0003834	0003834	253290	33108	C1854678		cholinergic receptor nicotinic delta subunit; cholinergic receptor nicotinic alpha 1 subunit; cholinergic receptor nicotinic gamma subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal multiple pterygium syndrome"	38
Multiple synostosis syndrome	deafness-hermann type symphalangism syndrome//facio-audio-symphalangism//hearing loss-hermann type symphalangism syndrome//multiple synostoses syndrome//symphalangism syndrome//wl syndrome	GDF5;NOG;FGF9;GDF6	GDF5;NOG;FGF9;GDF6	https://raresource.nih.gov/literature/disease/0003836	0003836		3237	C0175700		growth differentiation factor 5; noggin; fibroblast growth factor 9; growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple synostosis syndrome"	51
Merosin deficient congenital muscular dystrophy	cmd1a//cmd1a - congenital muscular dystrophy type 1a//congenital merosin-deficient muscular dystrophy 1a//congenital merosin-deficient muscular dystrophy type 1a//congenital muscular dystrophy caused by mutation in lama2//congenital muscular dystrophy due to laminin alpha2 deficiency//congenital muscular dystrophy type 1a//lama2 congenital muscular dystrophy//laminin subunit alpha 2-related congenital muscular dystrophy//mcd1a - muscular congenital dystrophy type 1a//mdc1a//merosin-deficient congenital muscular dystrophy type 1a//merosin-negative congenital muscular dystrophy//muscular dystrophy, congenital merosin-deficient, type 1a//muscular dystrophy, congenital, merosin deficient or partially deficient	LAMA2	LAMA2	https://raresource.nih.gov/literature/disease/0003843	0003843	607855	258	C1263858		laminin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Merosin deficient congenital muscular dystrophy"	227
Sarcotubular myopathy	autosomal recessive limb-girdle muscular dystrophy caused by mutation in trim32//autosomal recessive limb-girdle muscular dystrophy type 2h//hutterite type of muscular dystrophy//lgmd due to trim32 deficiency//lgmd type 2h//lgmd2h//lgmdr8//limb-girdle muscular dystrophy due to trim32 deficiency//limb-girdle muscular dystrophy type 2h//muscular dystrophy hutterite type//muscular dystrophy, limb-girdle, autosomal recessive 8//trim32 autosomal recessive limb-girdle muscular dystrophy//trim32-related lgmd r8//trim32-related limb-girdle muscular dystrophy r8	TRIM32	TRIM32	https://raresource.nih.gov/literature/disease/0003844	0003844	254110	1878	C0270968	C535897	tripartite motif containing 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sarcotubular myopathy"	34
Autosomal recessive limb-girdle muscular dystrophy type 2E	autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb//beta-sarcoglycan-related lgmd r4//beta-sarcoglycan-related limb-girdle muscular dystrophy r4//lgmd due to beta-sarcoglycan deficiency//lgmd type 2e//lgmd2e//lgmdr4//limb girdle muscular dystrophy due to beta-sarcoglycan deficiency//limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2e//muscular dystrophy, limb-girdle, autosomal recessive 4//muscular dystrophy, limb-girdle, type 2e//sgcb autosomal recessive limb-girdle muscular dystrophy	SGCB	SGCB	https://raresource.nih.gov/literature/disease/0003851	0003851	604286	119	C1858593		sarcoglycan beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2E"	24
Glycogen storage disease IXd	glycogen storage disease caused by mutation in phka1//glycogen storage disease due to muscle phosphorylase kinase deficiency//glycogen storage disease type 9d//glycogen storage disease type 9e//glycogen storage disease type ixd//glycogen storage disease type ixe//glycogenosis due to muscle phosphorylase kinase deficiency//glycogenosis type 9d//glycogenosis type 9e//glycogenosis type ixd//glycogenosis type ixe//gsd due to muscle phosphorylase kinase deficiency//gsd ixd//gsd type 9d//gsd type 9e//gsd type ixd//gsd type ixe//gsd9d//muscle glycogenosis, x-linked recessive//muscle phosphorylase kinase deficiency//phka1 glycogen storage disease//phka1-related glycogen storage disease type ix//phka1-related phosphorylase kinase deficiency	PHKA1	PHKA1	https://raresource.nih.gov/literature/disease/0003858	0003858	300559	715	C1845151	C564485	phosphorylase kinase regulatory subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease IXd"	1558
Mycosis fungoides	classic mycosis fungoides//ctcl/ mycosis fungoides//cutaneous t-cell lymphoma/mycosis fungoides//mf//mf - mycosis fungoides//mycosis fungoides (clinical)//mycosis fungoides (morphologic abnormality)//mycosis fungoides lymphoma//mycosis fungoides nos (morphologic abnormality)//mycosis fungoides of unspecified site//mycosis fungoides, alibert-bazin type//mycosis fungoides, unspecified site, extranodal and solid organ sites	TNFRSF1B	TNFRSF1B	https://raresource.nih.gov/literature/disease/0003863	0003863	254400	2584	C0026948	D009182	TNF receptor superfamily member 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mycosis fungoides"	9230
Ataxia-pancytopenia syndrome	atxpc//myelocerebellar disorder	SAMD9L	SAMD9L	https://raresource.nih.gov/literature/disease/0003865	0003865	159550	2585	C1327919	C563233	sterile alpha motif domain containing 9 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-pancytopenia syndrome"	19
Myeloperoxidase deficiency	mpo - myeloperoxidase deficiency//mpo deficiency//mpod//myeloperoxidase deficiency syndrome	MPO	MPO	https://raresource.nih.gov/literature/disease/0003868	0003868	254600	2587	C0398595	C562864	myeloperoxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myeloperoxidase deficiency"	213
Progressive myoclonic epilepsy type 6	epilepsy, progressive myoclonic 6//epilepsy, progressive myoclonic, type 6//epm6//gosr2 (golgi snap receptor complex member 2) related progressive myoclonus ataxia//gosr2 progressive myoclonic epilepsy//gosr2-related progressive myoclonus ataxia//north sea progressive myoclonus epilepsy//pme (progressive myoclonic epilepsy) type 6//pme type 6//progressive myoclonic epilepsy caused by mutation in gosr2//progressive myoclonus epilepsy type 6	GOSR2	GOSR2	https://raresource.nih.gov/literature/disease/0003872	0003872	614018	280620	C5190805		golgi SNAP receptor complex member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 6"	4498
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	hereditary myoclonus and progressive distal muscular atrophy//hereditary myoclonus with progressive distal muscular atrophy//hereditary myoclonus-progressive distal muscular atrophy syndrome//jankovic-rivera syndrome//myoclonus, hereditary, with progressive distal muscular atrophy//sma-pme//spinal muscular atrophy with progressive myoclonic epilepsy	ASAH1	ASAH1	https://raresource.nih.gov/literature/disease/0003875	0003875	159950	2590	C1834569	C537563	N-acylsphingosine amidohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	27
Unverricht-Lundborg syndrome	baltic myoclonus epilepsy//epilepsy, progressive myoclonic 1a (unverricht and lundborg)//epilepsy, progressive myoclonic, 1a//epm1//myoclonic epilepsy of unverricht and lundborg//myoclonus progressive epilepsy of unverricht and lundborg//pme type 1//progressive myoclonic epilepsy type 1//progressive myoclonus epilepsy baltic myoclonic epilepsy//progressive myoclonus epilepsy type 1//uld//unverricht - lundborg disease//unverricht's disease//unverricht-lundborg disease	CSTB	CSTB	https://raresource.nih.gov/literature/disease/0003876	0003876	254800	308	C0751785	D020194	cystatin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Unverricht-Lundborg syndrome"	335
Mitochondrial myopathy with diabetes	mitochondrial myopathy, lipid type//myopathy and diabetes mellitus	MT-TE	MT-TE	https://raresource.nih.gov/literature/disease/0003881	0003881	500002	2596	C1839028	C564026	mitochondrially encoded tRNA-Glu (GAA/G)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial myopathy with diabetes"	None
Myopathy with tubular aggregates	myopathy, tubular aggregate, type 1//tam//tubular aggregate myopathy	STIM1;CASQ1;ORAI1	STIM1;CASQ1;ORAI1	https://raresource.nih.gov/literature/disease/0003884	0003884		2593	C0410207		stromal interaction molecule 1; calsequestrin 1; ORAI calcium release-activated calcium modulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy with tubular aggregates"	280
Myopathy, lactic acidosis, and sideroblastic anemia	mitochondrial myopathy and sideroblastic anaemia//mitochondrial myopathy and sideroblastic anemia//mitochondrial myopathy with sideroblastic anemia syndrome//mlasa//msa//myopathy with lactic acidosis and sideroblastic anemia//myopathy, lactic acidosis and sideroblastic anaemia//myopathy, lactic acidosis, and siderblastic anaemia//myopathy, lactic acidosis, and siderblastic anemia	PUS1;YARS2	PUS1;YARS2	https://raresource.nih.gov/literature/disease/0003885	0003885		2598	C1838103	C536101	pseudouridine synthase 1; tyrosyl-tRNA synthetase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, lactic acidosis, and sideroblastic anemia"	3547
Congenital nonprogressive myopathy with Moebius and Robin sequences	carey fineman ziter syndrome//carey-fineman-ziter syndrome//myopathy-moebius-robin syndrome	MYMX;MYMK	MYMX;MYMK	https://raresource.nih.gov/literature/disease/0003889	0003889		1358	C1850746		myomixer, myoblast fusion factor; myomaker, myoblast fusion factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital nonprogressive myopathy with Moebius and Robin sequences"	19
X-linked myopathy with excessive autophagy	autophagic vacuolar myopathy//avm//myopathy, x-linked, with excessive autophagy, x-linked recessive//vacuolar myopathy//xmea	VMA21	VMA21	https://raresource.nih.gov/literature/disease/0003892	0003892	310440	25980	C1839615	C536522	vacuolar ATPase assembly factor VMA21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked myopathy with excessive autophagy"	5746
Alpha-N-acetylgalactosaminidase deficiency type 3	alpha-n-acetylgalactosaminidase deficiency, type iii//naga (alpha-n-acetylgalactosaminidase) deficiency type 3//naga deficiency type 3//schindler disease type 3//schindler disease, type 3//schindler disease, type iii	NAGA	NAGA	https://raresource.nih.gov/literature/disease/0003903	0003903		79281	C5437471		alpha-N-acetylgalactosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-N-acetylgalactosaminidase deficiency type 3"	None
Microcephaly, normal intelligence and immunodeficiency	at v1//ataxia telangiectasia variant v1//ataxia-telangiectasia, variant 1//berlin breakage syndrome//immunodeficiency, microcephaly with normal intelligence//immunodeficiency, microcephaly, and chromosomal instability//immunodeficiency-microcephaly-chromosomal instability syndrome//microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies//microcephaly-immunodeficiency-lymphoid malignancy syndrome//microcephaly-immunodeficiency-lymphoreticuloma syndrome//nbs//nbs - nijmegen breakage syndrome//nijmegen breakage syndrome//nonsyndromal microcephaly autosomal recessive with normal intelligence//seemanova syndrome//seemanova syndrome 2//seemanova syndrome ii//seemanova syndrome type 2	NBN	NBN	https://raresource.nih.gov/literature/disease/0003904	0003904	251260	647	C0398791	D049932	nibrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, normal intelligence and immunodeficiency"	875
Mitochondrial complex I deficiency	complex 1 mitochondrial respiratory chain deficiency//complex i deficiency//isolated complex i deficiency//isolated mitochondrial respiratory chain complex i deficiency//isolated nadh-coenzyme q reductase deficiency//isolated nadh-coq reductase deficiency//isolated nadh-ubiquinone reductase deficiency//mitochondrial respiratory chain complex i deficiency//nadh - nicotinamide adenine dinucleotide coenzyme q reductase deficiency//nadh coenzyme q reductase deficiency//nadh:q(1) oxidoreductase deficiency//nicotinamide adenine dinucleotide coenzyme q reductase deficiency	NDUFAF3;NDUFS2;MT-ND3;NDUFS8;NDUFV1;TMEM126B;NDUFA6;NDUFB9;NDUFS1;NDUFS4;MT-ND1;NDUFA1;NDUFS6;NDUFAF4;NDUFB3;NDUFAF1;NUBPL;NDUFA11;MT-ND2;FOXRED1;NDUFB10;NDUFV2;NDUFAF2;NDUFS3;NDUFS7;TIMMDC1;NDUFAF5;NDUFAF8	NDUFAF3;NDUFS2;MT-ND3;NDUFS8;NDUFV1;TMEM126B;NDUFA6;NDUFB9;NDUFS1;NDUFS4;MT-ND1;NDUFA1;NDUFS6;NDUFAF4;NDUFB3;NDUFAF1;NUBPL;NDUFA11;MT-ND2;FOXRED1;NDUFB10;NDUFV2;NDUFAF2;NDUFS3;NDUFS7;TIMMDC1;NDUFAF5;NDUFAF8	https://raresource.nih.gov/literature/disease/0003908	0003908		2609	C1838979	C537475	NADH:ubiquinone oxidoreductase complex assembly factor 3; NADH:ubiquinone oxidoreductase core subunit S2; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3; NADH:ubiquinone oxidoreductase core subunit S8; NADH:ubiquinone oxidoreductase core subunit V1; transmembrane protein 126B; NADH:ubiquinone oxidoreductase subunit A6; NADH:ubiquinone oxidoreductase subunit B9; NADH:ubiquinone oxidoreductase core subunit S1; NADH:ubiquinone oxidoreductase subunit S4; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1; NADH:ubiquinone oxidoreductase subunit A1; NADH:ubiquinone oxidoreductase subunit S6; NADH:ubiquinone oxidoreductase complex assembly factor 4; NADH:ubiquinone oxidoreductase subunit B3; NADH:ubiquinone oxidoreductase complex assembly factor 1; NUBP iron-sulfur cluster assembly factor, mitochondrial; NADH:ubiquinone oxidoreductase subunit A11; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2; FAD dependent oxidoreductase domain containing 1; NADH:ubiquinone oxidoreductase subunit B10; NADH:ubiquinone oxidoreductase core subunit V2; NADH:ubiquinone oxidoreductase complex assembly factor 2; NADH:ubiquinone oxidoreductase core subunit S3; NADH:ubiquinone oxidoreductase core subunit S7; translocase of inner mitochondrial membrane domain containing 1; NADH:ubiquinone oxidoreductase complex assembly factor 5; NADH:ubiquinone oxidoreductase complex assembly factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency"	604
Naegeli-Franceschetti-Jadassohn syndrome	franceschetti-jadassohn syndrome//naegeli syndrome//naegeli's syndrome//nfj syndrome//nfjs	KRT14	KRT14	https://raresource.nih.gov/literature/disease/0003912	0003912	161000	69087	C0343111	C538331	keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Naegeli-Franceschetti-Jadassohn syndrome"	271
Proteasome-associated autoinflammatory syndrome 1	praas1//proteasome-associated autoinflammatory syndrome 1 and digenic forms	PSMB8	PSMB8	https://raresource.nih.gov/literature/disease/0003916	0003916	256040		C4746851		proteasome 20S subunit beta 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 1"	None
Isolated growth hormone deficiency type IB	congenital ighd type ib//congenital isolated gh deficiency type ib//congenital isolated growth hormone deficiency type ib//dwarfism of sindh//growth hormone deficiency, isolated, type ib//ighd 1b//ighd ib//ighd1b	GH1	GH1	https://raresource.nih.gov/literature/disease/0003919	0003919	612781	231671	C2748571	C567564	growth hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated growth hormone deficiency type IB"	11
X-linked agammaglobulinemia with growth hormone deficiency	agammaglobulinemia and isolated growth hormone deficiency, x-linked//congenital ighd type iii//congenital isolated gh deficiency type iii//congenital isolated growth hormone deficiency type iii//fleisher syndrome//growth hormone deficiency with hypogammaglobulinemia//hypogammaglobulinemia and isolated growth hormone deficiency, x-linked//ighd iii//ighd3//isolated growth hormone deficiency type 3//isolated growth hormone deficiency type iii//isolated growth hormone deficiency, type iii//isolated growth hormone deficiency, type iii, with agammaglobulinemia//isolated growth hormone deficiency, type iii, with agammaglobulinemia, x-linked recessive//x-linked agammaglobulinemia and isolated growth hormone deficiency//x-linked hypogammaglobulinemia and isolated growth hormone deficiency//x-linked ighd//x-linked isolated growth hormone deficiency	BTK	BTK	https://raresource.nih.gov/literature/disease/0003921	0003921		231692	C0472813	C537149	Bruton tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked agammaglobulinemia with growth hormone deficiency"	8218
Visceral neuropathy, familial, 1, autosomal recessive	neuronal intestinal pseudoobstruction//vscn1	ERBB3	ERBB3	https://raresource.nih.gov/literature/disease/0003928	0003928		99811	C1855733	C537394	erb-b2 receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Visceral neuropathy, familial, 1, autosomal recessive"	1
Perlman syndrome	nephroblastomatosis - fetal ascites - macrosomia - wilms tumor//nephroblastomatosis - foetal ascites - macrosomia - wilms tumour//nephroblastomatosis, fetal ascites, macrosomia and wilms tumor//nephroblastomatosis, foetal ascites, macrosomia and wilms tumour//nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome//nephroblastomatosis-fetal ascites-macrosomia-wilms tumour syndrome//prlmns//renal hamartomas, nephroblastomatosis and fetal gigantism//renal hamartomas, nephroblastomatosis and foetal gigantism	DIS3L2	DIS3L2	https://raresource.nih.gov/literature/disease/0003936	0003936	267000	2849	C0796113	C536399	DIS3 like 3'-5' exoribonuclease 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perlman syndrome"	58
Familial idiopathic steroid-resistant nephrotic syndrome	familial idiopathic nephrotic syndrome//genetic srns//genetic steroid-resistant nephrotic syndrome//hereditary steroid-resistant nephrotic syndrome	INF2;TBC1D8B;KANK2;ACTN4;NUP133;MAGI2;WT1;NPHS2;ANLN;CD2AP;NUP160;COQ8B;ARHGAP24;NUP93;CRB2;ANKFY1;NUP107;NPHS1;MYO1E;AVIL;ARHGDIA;LAMA5;NUP205;PLCE1;PAX2;EMP2;PTPRO;NUP85;NUP37;GAPVD1;DAAM2;TRPC6	INF2;TBC1D8B;KANK2;ACTN4;NUP133;MAGI2;WT1;NPHS2;ANLN;CD2AP;NUP160;COQ8B;ARHGAP24;NUP93;CRB2;ANKFY1;NUP107;NPHS1;MYO1E;AVIL;ARHGDIA;LAMA5;NUP205;PLCE1;PAX2;EMP2;PTPRO;NUP85;NUP37;GAPVD1;DAAM2;TRPC6	https://raresource.nih.gov/literature/disease/0003946	0003946		656	C4273714		inverted formin 2; TBC1 domain family member 8B; KN motif and ankyrin repeat domains 2; actinin alpha 4; nucleoporin 133; membrane associated guanylate kinase, WW and PDZ domain containing 2; WT1 transcription factor; NPHS2 stomatin family member, podocin; anillin, actin binding protein; CD2 associated protein; nucleoporin 160; coenzyme Q8B; Rho GTPase activating protein 24; nucleoporin 93; crumbs cell polarity complex component 2; ankyrin repeat and FYVE domain containing 1; nucleoporin 107; NPHS1 adhesion molecule, nephrin; myosin IE; advillin; Rho GDP dissociation inhibitor alpha; laminin subunit alpha 5; nucleoporin 205; phospholipase C epsilon 1; paired box 2; epithelial membrane protein 2; protein tyrosine phosphatase receptor type O; nucleoporin 85; nucleoporin 37; GTPase activating protein and VPS9 domains 1; dishevelled associated activator of morphogenesis 2; transient receptor potential cation channel subfamily C member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial idiopathic steroid-resistant nephrotic syndrome"	20
Combined deficiency of sialidase AND beta galactosidase	cathepsin a deficiency//combined deficiency of neuroaminidase and beta galactosidase//galactosialidosis//goldberg syndrome//gsl//gsl - galactosialidosis//neuraminidase deficiency with beta-galactosidase deficiency//neuraminidase/beta-galactosidase expression//ppca deficiency//protective protein deficiency//protective protein/cathepsin a deficiency	CTSA	CTSA	https://raresource.nih.gov/literature/disease/0003953	0003953	256540	351	C0268233	C536411	cathepsin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined deficiency of sialidase AND beta galactosidase"	5343
Amyotrophic neuralgia	amyotrophy, hereditary neuralgic//amyotrophy, hereditary neuralgic, with predilection for brachial plexus//brachial plexus neuropathy, hereditary//hereditary brachial plexus neuropathy//hereditary neuralgic amyotrophy//hna//neuritis with brachial predilection	SEPTIN9	SEPTIN9	https://raresource.nih.gov/literature/disease/0003955	0003955	162100		C1834304		septin 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic neuralgia"	203
Chorea-acanthocytosis	acanthocytosis with neurologic disorder//chac//choreo-acanthocytosis//choreoacanthocytosis//levine-critchley syndrome	VPS13A	VPS13A	https://raresource.nih.gov/literature/disease/0003956	0003956	200150	2388	C0393576	D054546	vacuolar protein sorting 13 homolog A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chorea-acanthocytosis"	359
Infantile neuroaxonal dystrophy	inad//inad - infantile neuroaxonal dystrophy//inad1//infantile neuroaxonal dystrophy 1//nbia2a//neurodegeneration with brain iron accumulation 2a//neurodegeneration with brain iron accumulation type 2a//neurodegeneration, pla2g6-associated//plan//seitelberger disease//seitelberger's disease//spastic amaurotic axonal idiocy	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0003957	0003957	256600	35069	C0270724	C536071	phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile neuroaxonal dystrophy"	386
Cafe au lait spots, multiple	autosomal dominant café au lait spots//familial cafe-au-lait spots//familial café-au-lait spots//familial calms (café-au-lait macules) isolated//familial isolated café-au-lait macules//familial isolated café-au-lait spots//multiple birthmarks//multiple cafe-au-lait spots//multiple cafe-au-lait syndrome//multiple café-au-lait spots//multiple café-au-lait syndrome//multiple flat light-brown marks on skin//neurofibromatosis type 6//nf6//nf6 - neurofibromatosis type 6	LZTR1	LZTR1	https://raresource.nih.gov/literature/disease/0003967	0003967	114030	2678	C1861975	C537421	leucine zipper like post translational regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cafe au lait spots, multiple"	4
Neuronal intranuclear inclusion disease	niid	NOTCH2NLC	NOTCH2NLC	https://raresource.nih.gov/literature/disease/0003971	0003971	603472	2289	C1863843	C537395	notch 2 N-terminal like C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal intranuclear inclusion disease"	375
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	mitochondrial dna depletion syndrome type 6//navajo neurohepatopathy//navajo neuropathy	MPV17	MPV17	https://raresource.nih.gov/literature/disease/0003972	0003972	256810	255229	C1850406	C538344	mitochondrial inner membrane protein MPV17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	532
Charcot-Marie-Tooth disease type 4D	autosomal recessive demyelinating charcot-marie-tooth disease type 4d//charcot-marie-tooth disease type 4 caused by mutation in ndrg1//charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d//charcot-marie-tooth disease, demyelinating, type 4d//charcot-marie-tooth neuropathy type 4d//charcot-marie-tooth neuropathy type 4d (cmt4d)//cmt4d//hereditary motor abd sensory neuropathy lom type//hereditary motor and sensory neuropathy lom type//hereditary motor and sensory neuropathy, lom type//hmsn lom type//hmsn, lom type//hmsn-lom//hmsn4d//hmsnl//ndrg1 charcot-marie-tooth disease type 4//neuropathy, hereditary motor and sensory, lom type	NDRG1	NDRG1	https://raresource.nih.gov/literature/disease/0003973	0003973	601455	99950	C1832334	C535716	N-myc downstream regulated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4D"	2034
Hereditary sensory and autonomic neuropathy type 2	autosomal recessive sensory radicular neuropathy//dominant hereditary sensory neuropathy, type ii//giaccai type acroosteolysis//hereditary sensory and autonomic neuropathy type ii//hereditary sensory and autonomic neuropathy, type ii//hereditary sensory neuropathy type 2//hereditary sensory radicular neuropathy, recessive form//hsan2//hsn type ii//morvan disease//neurogenic acroosteolysis//neuropathy, congenital sensory//neuropathy, progressive sensory, of children//painless whitlow disease	KIF1A;WNK1;RETREG1;SCN9A	KIF1A;WNK1;RETREG1;SCN9A	https://raresource.nih.gov/literature/disease/0003976	0003976		970	C5574675		kinesin family member 1A; WNK lysine deficient protein kinase 1; reticulophagy regulator 1; sodium voltage-gated channel alpha subunit 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 2"	45
Triglyceride storage disease with ichthyosis	cds//chanarin-dorfman disease//chanarin-dorfman syndrome//chanarin-miranda syndrome//dorfman-chanarin disease//ichthyosiform erythroderma with leukocyte vacuolation//ichthyotic neutral lipid storage disease//lipid storage myopathy and congenital ichthyosis//neutral lipid storage disease with ichthyosis//nlsdi//triglyceride storage disease with impaired long-chain fatty acid oxidation	ABHD5	ABHD5	https://raresource.nih.gov/literature/disease/0003979	0003979	275630	98907	C0268238		abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Triglyceride storage disease with ichthyosis"	909
X-linked severe congenital neutropenia	neutropenia, severe congenital, x-linked, x-linked recessive//scnx//severe congenital neutropenia, x-linked	WAS	WAS	https://raresource.nih.gov/literature/disease/0003981	0003981	300299	86788	C1845987	C564539	WASP actin nucleation promoting factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked severe congenital neutropenia"	1067
Familial multiple nevi flammei	capillary malformations, congenital, 1, somatic, mosaic//familial multiple port-wine stains//nevi flammei//nevus flammeus//port wine birthmark//port wine nevus//port wine stain//port wine stain of skin//port wine stain of the skin//port wine type hemangioma//port-wine stain//port-wine stain of skin//salmon patch nevus	GNAQ	GNAQ	https://raresource.nih.gov/literature/disease/0003986	0003986	163000	624	C2931029		G protein subunit alpha q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial multiple nevi flammei"	939
Niemann-Pick disease, type C2	npc2//type c2 niemann-pick disease	NPC2	NPC2	https://raresource.nih.gov/literature/disease/0003992	0003992	607625		C1843366	C536119	NPC intracellular cholesterol transporter 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease, type C2"	32
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant	cln8 disease, northern epilepsy variant//early onset familial encephalopathy with neuroserpin inclusion bodies//epilepsy, progressive, with mental retardation//epmr//ncl, northern epilepsy variant//neuronal ceroid lipofuscinosis, northern epilepsy variant//northern epilepsy//northern epilepsy variant, neuronal ceroid lipofuscinosis, northern epilepsy variant//progressive epilepsy with intellectual disability, northern epilepsy//progressive epilepsy with mental retardation//progressive epilepsy with mental retardation, northern epilepsy//progressive epilepsy-intellectual disability syndrome finnish type//progressive epilepsy-intellectual disability syndrome, finnish type//progressive myoclonic epilepsy with neuroserpin inclusion bodies	CLN8	CLN8	https://raresource.nih.gov/literature/disease/0004010	0004010	610003	1947	C1864923		CLN8 transmembrane ER and ERGIC protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 8 northern epilepsy variant"	490
Norum disease	complete lcat (lecithin-cholesterol acyltransferase) deficiency//complete lcat deficiency//familial lcat deficiency//familial lecithin cholesterol acyltransferase deficiency//fld//lecithin:cholesterol acyltransferase deficiency	LCAT	LCAT	https://raresource.nih.gov/literature/disease/0004011	0004011	245900	79293	C0023195	D007863	lecithin-cholesterol acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Norum disease"	796
Cutis laxa, X-linked	eds ix//ehlers-danlos syndrome type 9//ehlers-danlos syndrome type 9 x-linked//ehlers-danlos syndrome type ix//ehlers-danlos syndrome, mental retardation type//ehlers-danlos syndrome, occipital horn type//ehlers-danlos syndrome, type 9//ehlers-danlos syndrome, x-linked skeletal type//occipital horn syndrome//occipital horn syndrome, x-linked recessive//ohs//x-linked cutis laxa	ATP7A	ATP7A	https://raresource.nih.gov/literature/disease/0004017	0004017	304150	198	C0268353	C537860	ATPase copper transporting alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, X-linked"	606
Tyrosinase-positive oculocutaneous albinism	albinism ii//albinism, oculocutaneous, type ii//albinism, oculocutaneous, type ii, modifier of//albinoidism//oca2//oca2 - tyrosinase-positive oculocutaneous albinism//oculocutaneous albinism type 2//oculocutaneous albinism, tyrosinase-positive	OCA2	OCA2	https://raresource.nih.gov/literature/disease/0004038	0004038	203200	79432	C0268495	C537730	OCA2 melanosomal transmembrane protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tyrosinase-positive oculocutaneous albinism"	97
Oculocutaneous albinism type 3	albinism iii//albinism, oculocutaneous, type iii//oca3//oculocutaneous albinism caused by mutation in tyrp1//red oculocutaneous albinism//red-skin albinism//rufous albinism//rufous oca//rufous oculocutaneous albinism//tyrp1 oculocutaneous albinism//xanthism//xanthous oculocutaneous albinism	TYRP1	TYRP1	https://raresource.nih.gov/literature/disease/0004039	0004039	203290	79433	C0342683	C537731	tyrosinase related protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 3"	16
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	arthrogryposis multiple congenita, ophthalmoplegia, ptosis//arthrogryposis with oculomotor limitation and electroretinal abnormalities//arthrogryposis with oculomotor limitation and electroretinal anomaly//arthrogryposis, distal, type 5//arthrogryposis, distal, type iib//distal arthrogryposis type 5//distal arthrogryposis type iib//distal arthrogryposis with ophthalmoplegia//oculomelic amyoplasia	PIEZO2	PIEZO2	https://raresource.nih.gov/literature/disease/0004047	0004047	108145	1154	C1862472		piezo type mechanosensitive ion channel component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome"	23
3MC syndrome 1	3mc syndrome caused by mutation in masp1//3mc syndrome type 1//craniosynostosis with lid anomalies//masp1 3mc syndrome//michels syndrome	MASP1	MASP1	https://raresource.nih.gov/literature/disease/0004049	0004049	257920		C0796059		MBL associated serine protease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3MC syndrome 1"	10
Odonto-onycho-dermal dysplasia	oodd	WNT10A	WNT10A	https://raresource.nih.gov/literature/disease/0004054	0004054	257980	2721	C0796093	C537742	Wnt family member 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odonto-onycho-dermal dysplasia"	20
Infantile onset spinocerebellar ataxia	autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk//iosca//mitochondrial dna depletion syndrome 7 (hepatocerebral type)//mitochondrial dna depletion syndrome type 7//mtdps7//ohaha syndrome//ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis//ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome//ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome//spinocerebellar ataxia, infantile, with sensory neuropathy//twnk autosomal recessive degenerative and progressive cerebellar ataxia	TWNK	TWNK	https://raresource.nih.gov/literature/disease/0004062	0004062	271245	1186	C1849096	C535523	twinkle mtDNA helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile onset spinocerebellar ataxia"	25
Au-Kline syndrome	auks//hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability//hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation//neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome//neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation//neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation//okamoto syndrome	HNRNPK	HNRNPK	https://raresource.nih.gov/literature/disease/0004064	0004064	616580	453504	C4225274	C565736	heterogeneous nuclear ribonucleoprotein K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Au-Kline syndrome"	18
Spinocerebellar ataxia type 1	atxn1 autosomal dominant cerebellar ataxia type i//autosomal dominant cerebellar ataxia type i caused by mutation in atxn1//cerebelloparenchymal disorder i//menzel type opca//olivopontocerebellar atrophy i//olivopontocerebellar atrophy iv//sca1//schut-haymaker type opca//spinocerebellar atrophy i	ATXN1	ATXN1	https://raresource.nih.gov/literature/disease/0004071	0004071	164400	98755	C0752120		ataxin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 1"	681
Spinocerebellar ataxia type 2	atxn2 autosomal dominant cerebellar ataxia type i//autosomal dominant cerebellar ataxia type i caused by mutation in atxn2//cerebellar degeneration with slow eye movements//olivopontocerebellar atrophy ii//opca2//sca2//spinocerebellar atrophy ii	ATXN2	ATXN2	https://raresource.nih.gov/literature/disease/0004072	0004072	183090	98756	C0752121		ataxin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 2"	5793
Olmsted syndrome	congenital palmoplantar and perioral keratoderma of olmsted//mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques//mutilating palmoplantar keratoderma with periorificial keratotic plaques//olms//palmoplantar and periorificial keratoderma//palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	MBTPS2;PERP;TRPV3	MBTPS2;PERP;TRPV3	https://raresource.nih.gov/literature/disease/0004075	0004075		659	C0406761		membrane bound transcription factor peptidase, site 2; p53 apoptosis effector related to PMP22; transient receptor potential cation channel subfamily V member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Olmsted syndrome"	130
Autosomal recessive omodysplasia	micromelic dysplasia, congenital, with dislocation of radius//micromelic dysplasia, dislocation of radius syndrome//micromelic dysplasia-dislocation of radius syndrome//omod1//omodysplasia 1//omodysplasia type 1//omodysplasia, autosomal recessive	GPC6	GPC6	https://raresource.nih.gov/literature/disease/0004076	0004076	258315	93329	C1850318		glypican 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive omodysplasia"	12
Poikiloderma with neutropenia	pn//poikiloderma with neutropenia clericuzio type//poikiloderma with neutropenia, clericuzio type//prurigo nodularis	USB1	USB1	https://raresource.nih.gov/literature/disease/0004085	0004085	604173	221046	C1858723		U6 snRNA biogenesis phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Poikiloderma with neutropenia"	2859
Opsismodysplasia	opsmd	INPPL1	INPPL1	https://raresource.nih.gov/literature/disease/0004098	0004098	258480	2746	C0432219	C537122	inositol polyphosphate phosphatase like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Opsismodysplasia"	28
Renal coloboma syndrome	cakut with or without ocular abnormalities//coloboma of optic nerve with renal disease//congenital anomalies of the kidney and urinary tract with or without ocular abnormalities//optic coloboma, vesicoureteral reflux and renal anomalies//optic coloboma, vesicoureteral reflux, and renal anomalies//optic nerve coloboma with renal disease//papillo-renal syndrome//papillo-renal syndrome, optic nerve coloboma with renal disease//papillorenal syndrome//papillorenal syndrome with mild ocular abnormalities//paprs//renal-coloboma syndrome with macular abnormalities	PAX2	PAX2	https://raresource.nih.gov/literature/disease/0004106	0004106	120330	1475	C1852759	C537168	paired box 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal coloboma syndrome"	133
Syndromic X-linked intellectual disability Shashi type	intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive//intellectual developmental disorder, x-linked, syndromic 11//intellectual disability, x-linked, syndromic 11, shashi type//mental retardation, x-linked, syndromic 11, shashi type//mrxs11//shashi x-linked intellectual disability syndrome//shashi x-linked mental retardation syndrome//smrxs//syndromic x-linked intellectual disability type 11//x-linked intellectual disability shashi type//x-linked intellectual disability, shashi type//x-linked mental retardation shashi type	RBMX	RBMX	https://raresource.nih.gov/literature/disease/0004119	0004119	300238	85286	C1846145	C537135	RNA binding motif protein X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Shashi type"	None
Orofaciodigital syndrome V	ofd5//ofds v//oral-facial-digital syndrome type 5//oral-facial-digital syndrome, type v//oro-facial digital syndrome type 5//orofaciodigital syndrome thurston type//orofaciodigital syndrome type 5//orofaciodigital syndrome type v//orofaciodigital syndrome, thurston type//polydactyly postaxial with median cleft of upper lip//polydactyly, postaxial, with median cleft of upper lip//thurston syndrome	DDX59	DDX59	https://raresource.nih.gov/literature/disease/0004120	0004120	174300	2919	C1868118	C557819	DEAD-box helicase 59	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome V"	9
Orofaciodigital syndrome I	ofd syndrome 1//ofd1//ofdi//ofds 1//ofds i//ofdsi//oral facial digital syndrome 1//oral facial digital syndrome type 1//oral-facial-digital syndrome 1//oral-facial-digital syndrome type 1//oral-facial-digital syndrome type i//oral-facial-digital syndrome, type 1//oro-facial digital syndrome type 1//orofaciodigital syndrome 1//orofaciodigital syndrome i, x-linked dominant//orofaciodigital syndrome type 1//orofaciodigital syndrome type i//papillon léage psaume syndrome//papillon-leage and psaume syndrome//papillon-leage-psaume syndrome//papillon-league-psaume syndrome (formerly)//papillon-léage-psaume syndrome	OFD1	OFD1	https://raresource.nih.gov/literature/disease/0004121	0004121	311200	2750	C1510460	C537134	OFD1 centriole and centriolar satellite protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome I"	126
Otospondylomegaepiphyseal dysplasia	chondrodystrophy with sensorineural deafness//nance-insley syndrome//nance-sweeney chondrodysplasia//osmed//otospondylmegaepiphyseal dysplasia	COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0004130	0004130		1427	C4520892		collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otospondylomegaepiphyseal dysplasia"	25
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	familial osteochondritis dissecans//od//osteochondritis dissecans and short stature//osteochondritis dissecans, short stature, and early-onset osteoarthritis//ssoaod	ACAN	ACAN	https://raresource.nih.gov/literature/disease/0004133	0004133		251262	C3665488		aggrecan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"	1923
Osteoglophonic dysplasia	fgfr1-related osteoglophonic dysplasia//ogd//osteoglophonic dwarfism//osteoglosphonic dysplasia	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0004142	0004142	166250	2645	C0432283	C536050	fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteoglophonic dysplasia"	436
Osteopathia striata with cranial sclerosis	hyperostosis generalisata with striations//oscs//osteopathia striata with cranial sclerosis, x-linked dominant//osteopathia striata-cranial sclerosis syndrome//robinow-unger syndrome	AMER1	AMER1	https://raresource.nih.gov/literature/disease/0004148	0004148	300373	2780	C0432268	C536053	APC membrane recruitment protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopathia striata with cranial sclerosis"	67
Autosomal dominant osteopetrosis 1	autosomal dominant osteopetrosis type 1//lrp5 osteopetrosis (disease)//lrp5-related autosomal dominant osteopetrosis//opta1//osteopetrosis (disease) caused by mutation in lrp5//osteopetrosis, autosomal dominant type 1//osteopetrosis, autosomal dominant, type i	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0004151	0004151	607634	2783	C1843330	C536056	LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant osteopetrosis 1"	22050
Autosomal recessive osteopetrosis 5	autosomal recessive osteopetrosis type 5//infantile malignant osteopetrosis 3//optb5//osteopetrosis (disease) caused by mutation in ostm1//osteopetrosis, autosomal recessive type 5//ostm1 osteopetrosis (disease)//ostm1-related autosomal recessive osteopetrosis	OSTM1	OSTM1	https://raresource.nih.gov/literature/disease/0004153	0004153	259720		C1968603	C566883	osteoclastogenesis associated transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 5"	12355
Osteopetrosis with renal tubular acidosis	autosomal recessive osteopetrosis 3//autosomal recessive osteopetrosis 3 with renal tubular acidosis//autosomal recessive osteopetrosis type 3//autosomal recessive osteopetrosis, type 3//ca2 - osteopetrosis with renal tubular acidosis//ca2 osteopetrosis (disease)//carbonic anhydrase 2 deficiency//carbonic anhydrase ii deficiency//guibaud-vainsel syndrome//marble brain disease//mixed renal tubular acidosis//mixed rta//optb3//osteopetrosis (disease) caused by mutation in ca2//osteopetrosis, autosomal recessive 3, with renal tubular acidosis//osteopetrosis, autosomal recessive type 3//renal tubular acidosis type 3	CA2	CA2	https://raresource.nih.gov/literature/disease/0004154	0004154	259730	2785	C0345407	C536058	carbonic anhydrase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis with renal tubular acidosis"	66
Autosomal recessive osteopetrosis 6	autosomal recessive intermediate osteopetrosis//autosomal recessive osteopetrosis intermediate form//autosomal recessive osteopetrosis type 6//intermediate osteopetrosis//optb6//osteopetrosis (disease) caused by mutation in plekhm1//osteopetrosis, autosomal recessive type 6//plekhm1 osteopetrosis (disease)//plekhm1-related autosomal recessive osteopetrosis	PLEKHM1	PLEKHM1	https://raresource.nih.gov/literature/disease/0004156	0004156	611497	210110	C1969093	C566931	pleckstrin homology and RUN domain containing M1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 6"	8
Autosomal recessive osteopetrosis 2	autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11//autosomal recessive osteopetrosis caused by mutation in tnfsf11//autosomal recessive osteopetrosis type 2//mild autosomal recessive form osteopetrosis//optb2//osteoclast-poor osteopetrosis//osteopetrosis, autosomal recessive type 2//osteopetrosis, mild autosomal recessive form//tnfsf11 autosomal recessive malignant osteopetrosis//tnfsf11 autosomal recessive osteopetrosis//tnfsf11-related autosomal recessive osteopetrosis//tnfsf11-related osteopetrosis	TNFSF11	TNFSF11	https://raresource.nih.gov/literature/disease/0004157	0004157	259710		C1850126	C536059	TNF superfamily member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 2"	7
Osteoporosis with pseudoglioma	ocular form of osteogenesis imperfecta//oppg//osteoporosis pseudoglioma syndrome//osteoporosis-pseudoglioma syndrome	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0004160	0004160	259770	2788	C0432252	C536063	LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteoporosis with pseudoglioma"	2770
Heart defect - tongue hamartoma - polysyndactyly syndrome	congenital heart defects, hamartomas of tongue, and polysyndactyly//ostravik-lindemann-solberg syndrome	WDPCP	WDPCP	https://raresource.nih.gov/literature/disease/0004166	0004166	217085	1338	C1857587	C535849	WD repeat containing planar cell polarity effector	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heart defect - tongue hamartoma - polysyndactyly syndrome"	99
Otofaciocervical syndrome	familial oto-facio-cervical dysmorphia//fara chlupackova syndrome//fara-chlupackova syndrome//ofc//ofc syndrome	EYA1;PAX1	EYA1;PAX1	https://raresource.nih.gov/literature/disease/0004169	0004169		2792	C1833691	C563481	EYA transcriptional coactivator and phosphatase 1; paired box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otofaciocervical syndrome"	314
Benign paroxysmal tonic upgaze of childhood with ataxia	neuroocular syndrome 2, paroxysmal type//noc2//ouvrier billson syndrome//ouvrier-billson syndrome//paroxysmal tonic upgaze, benign childhood, with ataxia	DAGLA	DAGLA	https://raresource.nih.gov/literature/disease/0004176	0004176	168885	1179	C1868576	C566817	diacylglycerol lipase alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign paroxysmal tonic upgaze of childhood with ataxia"	1359
Overhydrated hereditary stomatocytosis		RHAG	RHAG	https://raresource.nih.gov/literature/disease/0004183	0004183	185000	3203	C1861455	C566111	Rh associated glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Overhydrated hereditary stomatocytosis"	20
Paget disease of bone 3	paget disease of bone type 3	SQSTM1	SQSTM1	https://raresource.nih.gov/literature/disease/0004191	0004191	167250		C4085252		sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paget disease of bone 3"	2303
Extramammary Paget disease	extramammary paget's disease//paget disease extramammary//paget disease of skin//paget disease, extramammary (except paget disease of bone)//paget's disease of skin//paget's disease of the skin//paget's disease, extramammary (except paget's disease of bone)//paget's skin disease	ERBB2	ERBB2	https://raresource.nih.gov/literature/disease/0004192	0004192	167300	2800	C0030186	D010145	erb-b2 receptor tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Extramammary Paget disease"	1332
Pancreatic agenesis	congenital pancreatic agenesis//pancreatic agenesis type 1//partial agenesis of the pancreas//partial pancreatic agenesis	PTF1A;PDX1	PTF1A;PDX1	https://raresource.nih.gov/literature/disease/0004203	0004203		2805	C5195568	C564908	pancreas associated transcription factor 1a; pancreatic and duodenal homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic agenesis"	108
Familial pancreatic carcinoma	familial pancreatic cancer//hereditary exocrine pancreatic carcinoma//hereditary pancreatic cancer//hereditary pancreatic carcinoma//pancreatic cancer, somatic//pancreatic carcinoma, somatic	KRAS;TP53;ACVR1B;STK11;SMAD4	KRAS;TP53;ACVR1B;STK11;SMAD4	https://raresource.nih.gov/literature/disease/0004206	0004206	260350	1333	C2931038	C535837	KRAS proto-oncogene, GTPase; tumor protein p53; activin A receptor type 1B; serine/threonine kinase 11; SMAD family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial pancreatic carcinoma"	365
Polyostotic fibrous dysplasia of bone	osteitis fibrosa disseminata//pfd//pfd - polyostotic fibrous dysplasia//pofd - polyostotic fibrous dysplasia//polyostotic fibrous dysplasia	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0004213	0004213		93276	C0016065	D005359	GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyostotic fibrous dysplasia of bone"	1328
Choroid plexus papilloma	benign choroid plexus papilloma//choroid plexus papilloma, no icd-o subtype//cpp//papilloma of choroid plexus//papilloma of the choroid plexus	TP53	TP53	https://raresource.nih.gov/literature/disease/0004214	0004214	260500	2807	C0205770	D020288	tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choroid plexus papilloma"	2617
Hereditary spastic paraplegia 17	autosomal dominant spastic paraplegia 17//autosomal dominant spastic paraplegia type 17//bscl2 hereditary spastic paraplegia//dhmn5b//distal hereditary motor neuropathy type 5b//hereditary spastic paraplegia caused by mutation in bscl2//hereditary spastic paraplegia type 17//silver disease//silver spastic paraplegia syndrome//silver syndrome//spastic paraplegia 17//spastic paraplegia with amyotrophy of hands and feet//spastic paraplegia-amyotrophy of hands and feet//spg17	BSCL2	BSCL2	https://raresource.nih.gov/literature/disease/0004219	0004219	270685	100998	C2931276	C536644	BSCL2 lipid droplet biogenesis associated, seipin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 17"	45
Parastremmatic dwarfism	parastremmatic dysplasia	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0004222	0004222	168400		C1868616	C537172	transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parastremmatic dwarfism"	14
Paroxysmal familial ventricular fibrillation	familial paroxysmal ventricular fibrillation, non brugada type//idiopathic ventricular fibrillation//idiopathic ventricular fibrillation, non brugada type//ivf//paroxysmal familial ventricular fibrillation (disorder)//paroxysmal ventricular fibrillation//ventricular fibrillation, paroxysmal familial	SCN5A;DPP6	SCN5A;DPP6	https://raresource.nih.gov/literature/disease/0004227	0004227		228140	C0340493		sodium voltage-gated channel alpha subunit 5; dipeptidyl peptidase like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal familial ventricular fibrillation"	686
Partington syndrome	mental retardation, x-linked 36//mental retardation, x-linked, syndromic 1//mental retardation, x-linked, with dystonic movements, ataxia, and seizures//mental retardation-dystonic movements-ataxia-seizures syndrome//partington syndrome, x-linked recessive//partington x-linked intellectual disability syndrome//partington x-linked mental retardation syndrome//partington-mulley syndrome//prts//x-linked intellectual deficit-dystonia-dysarthria syndrome//x-linked intellectual disability-dystonia-dysarthria syndrome//x-linked russell-silver syndrome	ARX	ARX	https://raresource.nih.gov/literature/disease/0004235	0004235	309510	94083	C0796250		aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partington syndrome"	43
PEHO syndrome	peho//peho (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome//progressive encephalopathy with edema, hypsarrhythmia and optic atrophy//progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome//progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy//progressive encephalopathy-optic atrophy syndrome	ZNHIT3	ZNHIT3	https://raresource.nih.gov/literature/disease/0004264	0004264	260565	2836	C1850055	C536317	zinc finger HIT-type containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PEHO syndrome"	50
Pelizaeus-Merzbacher disease	diffuse familial brain sclerosis//hld1//hypomyelinating leukodystrophy 1//leukodystrophy, hypomyelinating, 1//leukodystrophy, sudanophilic//pelizaeus merzbacher brain sclerosis//pelizaeus-merzbacher brain sclerosis//pelizaeus-merzbacher disease, x-linked recessive//pelizeaus-merzbacher spectrum disorder//pmd//sudanophilic leukodystrophy//sudanophilic leukodystrophy, paelizeus-merzbacher type	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0004265	0004265	312080	702	C0205711	D020371	proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus-Merzbacher disease"	1566
Hypomyelinating leukodystrophy 3	aimp1 leukodystrophy//hld3//hypomyelinating leukodystrophy type 3//leukodystrophy caused by mutation in aimp1//leukodystrophy, hypomyelinating, type 3//pelizaeus-merzbacher-like disease due to aimp1 mutation	AIMP1	AIMP1	https://raresource.nih.gov/literature/disease/0004266	0004266	260600	280293	C1850053	C536319	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 3"	6
Pendred syndrome	congenital hypothyroidism due to dyshormonogenesis 2b//deafness with goiter//deafness with goitre//gdth iib//genetic defect in thyroid hormonogenesis 2b//genetic defect in thyroid hormonogenesis ii b//goiter-deafness syndrome//goiter-hearing loss syndrome//hypothyroidism with sensorineural deafness//hypothyroidism, congenital, due to dyshormonogenesis, 2b//pds//pendred's syndrome//tdh2b//thyroid dyshormonogenesis 2b//thyroid hormone organification defect ii b//thyroid hormonogenesis, genetic defect in, 2b	KCNJ10;FOXI1;SLC26A4	KCNJ10;FOXI1;SLC26A4	https://raresource.nih.gov/literature/disease/0004271	0004271	274600	705	C0271829	C536648	potassium inwardly rectifying channel subfamily J member 10; forkhead box I1; solute carrier family 26 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pendred syndrome"	1858
Acroosteolysis-keloid-like lesions-premature aging syndrome	premature ageing syndrome penttinen type//premature ageing syndrome, penttinen type//premature aging syndrome, penttinen type//prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly//progeroid syndrome, penttinen type	PDGFRB	PDGFRB	https://raresource.nih.gov/literature/disease/0004276	0004276	601812	363665	C1866182	C536653	platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acroosteolysis-keloid-like lesions-premature aging syndrome"	1
Phosphoenolpyruvate carboxykinase deficiency, cytosolic	pck1 deficiency, cytosolic//pckdc//pepck deficiency, cytosolic	PCK1	PCK1	https://raresource.nih.gov/literature/disease/0004278	0004278	261680		C5574905		phosphoenolpyruvate carboxykinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoenolpyruvate carboxykinase deficiency, cytosolic"	1
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	pck2 deficiency//pepck deficiency, mitochondrial//pepck2 deficiency	PCK2	PCK2	https://raresource.nih.gov/literature/disease/0004279	0004279	261650		C1849821	C564890	phosphoenolpyruvate carboxykinase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoenolpyruvate carboxykinase deficiency, mitochondrial"	4
Phakomatosis pigmentokeratotica		HRAS	HRAS	https://raresource.nih.gov/literature/disease/0004311	0004311		2874	C2931658	C537893	HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phakomatosis pigmentokeratotica"	10730
Dihydropteridine reductase deficiency	6,7-dihydropteridine reductase activity disease//atypical phenylketonuria//atypical pku//bh4-deficient hyperphenylalaninemia c//dhpr - dihydropteridine reductase deficiency//dhpr deficiency//disorder of 6,7-dihydropteridine reductase activity//hpabh4c//hyperphenylalaninemia due to dihydropteridine reductase deficiency//hyperphenylalaninemia, bh-4-deficient, c//hyperphenylalaninemia, bh4-deficient c//hyperphenylalaninemia, bh4-deficient, type c//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency//hyperphenylalaninemia, type iv//phenylketonuria ii//phenylketonuria type 2//pku type 2//qdpr deficiency//quinoid dihydropteridine reductase deficiency	QDPR	QDPR	https://raresource.nih.gov/literature/disease/0004319	0004319	261630	226	C0268465		quinoid dihydropteridine reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dihydropteridine reductase deficiency"	176
PGM1-congenital disorder of glycosylation	cdg it//cdg syndrome type it//cdg-it//cdg1t//congenital disorder of glycosylation type 1t//congenital disorder of glycosylation type it//glycogen storage disease xiv//gsd xiv//pgm1 deficiency//pgm1-cdg//pgm1-cdg - phosphoglucomutase 1-related congenital disorder of glycosylation//pgm1-related congenital disorder of glycosylation//phosphoglucomutase 1 deficiency//phosphoglucomutase 1-related congenital disorder of glycosylation//phosphoglucomutase-1 deficiency	PGM1	PGM1	https://raresource.nih.gov/literature/disease/0004329	0004329	614921	319646	C2752015	C567859	phosphoglucomutase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PGM1-congenital disorder of glycosylation"	84
Immunodeficiency 23	cid due to pgm3 deficiency//combined immunodeficiency due to pgm3 (phosphoglucomutase 3) deficiency//combined immunodeficiency due to pgm3 deficiency//combined inflammatory and immunologic defect//imd23//immunodeficiency type 23//immunodeficiency with hyper ige and cognitive impairment//immunodeficiency-vasculitis-myoclonus syndrome//pgm3-cdg//pgm3-cdg - phosphoglucomutase 3-related congenital disorder of glycosylation//pgm3-exact congenital disorder of glycosylation//pgm3-related congenital disorder of glycosylation//phosphoglucomutase 3 deficiency//phosphoglucomutase 3-related congenital disorder of glycosylation//phosphoglucomutase deficiency type 3	PGM3	PGM3	https://raresource.nih.gov/literature/disease/0004331	0004331	615816	443811	C4014371	C565684	phosphoglucomutase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 23"	7
Phosphoribosylpyrophosphate synthetase superactivity	gout, prps-related, x-linked recessive//phosphoribosylpyrophosphate synthetase superactivity, x-linked recessive//prpp synthetase superactivity//prps1 superactivity	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0004337	0004337	300661	3222	C1970827	C567064	phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoribosylpyrophosphate synthetase superactivity"	77
Piebaldism	partial albinism//piebald skin depigmentation//piebald trait	KIT	KIT	https://raresource.nih.gov/literature/disease/0004344	0004344	172800	2884	C0080024	D016116	KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Piebaldism"	277
Isolated Pierre-Robin syndrome	glossoptosis, micrognathia, and cleft palate//isolated pierre robin sequence//micrognathia-glossoptosis syndrome//pierre robin association//pierre robin sequence//pierre robin syndrome//pierre-robin anomaly//pierre-robin deformity//pierre-robin malformation//pierre-robin sequence//robin sequence	SOX9	SOX9	https://raresource.nih.gov/literature/disease/0004347	0004347	261800	718	C0031900	D010855	SRY-box transcription factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated Pierre-Robin syndrome"	1609
Late-onset retinal degeneration	autosomal dominant late-onset retinal degeneration//lord//retinal degeneration, late-onset, autosomal dominant	C1QTNF5	C1QTNF5	https://raresource.nih.gov/literature/disease/0004357	0004357	605670	67042	C1854065	C565309	C1q and TNF related 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-onset retinal degeneration"	35
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	alopecia and t-cell immunodeficiency//alopecia immunodeficiency//alymphoid cystic thymic dysgenesis//congenital alopecia and nail dystrophy associated with severe functional t-cell immunodeficiency//congenital alopecia and nail dystrophy with severe functional t-cell immunodeficiency//foxn1 deficiency//nude/scid//nude/severe combined immunodeficiency//pignata guarino syndrome//scid due to foxn1 deficiency//severe combined immunodeficiency due to foxn1 deficiency//severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome//severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome//winged helix deficiency	FOXN1	FOXN1	https://raresource.nih.gov/literature/disease/0004358	0004358	601705	169095	C1866426	C536781	forkhead box N1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	198
Pili torti-developmental delay-neurological abnormalities syndrome	abnormal hair, joint laxity, and developmental delay	HEPHL1	HEPHL1	https://raresource.nih.gov/literature/disease/0004362	0004362	261990	2891	C1849811	C537398	hephaestin like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pili torti-developmental delay-neurological abnormalities syndrome"	None
Pitt-Hopkins syndrome	encephalopathy, severe epileptic, with autonomic dysfunction//mental retardation, syndromal, with intermittent hyperventilation//pths//pths - pitt-hopkins syndrome	TCF4	TCF4	https://raresource.nih.gov/literature/disease/0004372	0004372	610954	2896	C1970431	C537403	transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pitt-Hopkins syndrome"	218
Plasminogen deficiency, type I	hypoplasminogenemia//plasminogen deficiency type 1//plasminogen deficiency, type 1//type 1 plasminogen deficiency	PLG	PLG	https://raresource.nih.gov/literature/disease/0004380	0004380	217090	722	C1968804	C580017	plasminogen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Plasminogen deficiency, type I"	43
Congenital plasminogen activator inhibitor type 1 deficiency	congenital pai-1 deficiency//hyperfibrinolysis due to pai1 deficiency	SERPINE1	SERPINE1	https://raresource.nih.gov/literature/disease/0004381	0004381	613329	465	C2750067	C567640	serpin family E member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital plasminogen activator inhibitor type 1 deficiency"	4
Platyspondylic dysplasia, Torrance type	platyspondylic dysplasia, torrance-luton type//platyspondylic lethal skeletal dysplasia, torrance type//platyspondylic skeletal dysplasia, torrance type//plsd-t//plsdt	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0004382	0004382	151210	85166	C1835437	C563627	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platyspondylic dysplasia, Torrance type"	7
Kindler syndrome	bullous acrokeratotic poikiloderma of kindler and weary//congenital bullous poikiloderma//hereditary acrokeratotic poikiloderma of weary//kindler epidermolysis bullosa//kindler's syndrome//kndlrs//ks//poikiloderma of kindler//poikiloderma, congenital, with bullae, weary type//poikiloderma, hereditary acrokeratotic	FERMT1	FERMT1	https://raresource.nih.gov/literature/disease/0004391	0004391	173650	2908	C0406557	C536321	FERM domain containing kindlin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kindler syndrome"	6063
Orofaciodigital syndrome type 6	central polydactyly cleft lip/palate or lingual lump and psychomotor retardation//joubert syndrome with oral-facial-digital syndrome//joubert syndrome with oro-facial-digital syndrome//joubert syndrome with orofacialdigital anomalies//joubert syndrome with orofaciodigital defect//ofd6//ofds vi//oral-facial-digital syndrome type 6//oral-facial-digital syndrome type vi//orofaciodigital syndrome vi//polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation//polydactyly-cleft lip/palate-psychomotor retardation syndrome//varadi papp syndrome//varadi syndrome//varadi-papp syndrome//váradi syndrome//váradi-papp syndrome//y-shaped central metacarpal and cerebellar defect	CPLANE1	CPLANE1	https://raresource.nih.gov/literature/disease/0004412	0004412	277170	2754	C2745997	C536531	ciliogenesis and planar polarity effector complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 6"	46
Polydactyly, postaxial, type A1	polydactyly, postaxial, types a1 and b	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0004414	0004414	174200		C4282400		GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly, postaxial, type A1"	None
Polydactyly of a biphalangeal thumb	extra thumb//fromont anomaly//polydactyly affecting the thumb//polydactyly, preaxial i//polydactyly, preaxial type 1//ppd1//preaxial hand polydactyly//preaxial polydactyly of hands//preaxial polydactyly type 1//supernumerary thumb//thumb polydactyly	GLI1	GLI1	https://raresource.nih.gov/literature/disease/0004417	0004417	174400	93339	C1395852	C536332	GLI family zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly of a biphalangeal thumb"	67
Catecholaminergic polymorphic ventricular tachycardia	bidirectional tachycardia induced by catecholamine//bidirectional ventricular tachycardia induced by catecholamine//catecholamine-induced polymorphic ventricular tachycardia//cpvt//cvpt//double tachycardia induced by catecholamines//malignant paroxysmal ventricular tachycardia//multifocal ventricular premature beats//polymorphic ventricular tachycardia induced by catecholamines//ventricular tachycardia, catecholaminergic polymorphic	RYR2;CALM1;CASQ2;TECRL;TRDN	RYR2;CALM1;CASQ2;TECRL;TRDN	https://raresource.nih.gov/literature/disease/0004421	0004421		3286	C5574922	C536334;D000098850	ryanodine receptor 2; calmodulin 1; calsequestrin 2; trans-2,3-enoyl-CoA reductase like; triadin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia"	1237
Syndactyly type 4	haas type syndactyly//lmbr1 non-syndromic syndactyly//non-syndromic syndactyly caused by mutation in lmbr1//polysyndactyly type haas//polysyndactyly, haas type//syndactyly, type iv	LMBR1	LMBR1	https://raresource.nih.gov/literature/disease/0004434	0004434	186200	93405	C1861355	C566092	limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly type 4"	11
Bartsocas-Papas syndrome 1	autosomal recessive popliteal pterygium syndrome//bartsocas papas syndrome//bartsocas-papas syndrome//lethal popliteal pterygium syndrome//multiple pterygium syndrome, aslan type//popliteal pterygium syndrome, bartsocas-papas type 1//popliteal pterygium syndrome, lethal type//pterygium, popliteal, lethal type	RIPK4	RIPK4	https://raresource.nih.gov/literature/disease/0004436	0004436	263650	1234	C1849718	C564874	receptor interacting serine/threonine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartsocas-Papas syndrome 1"	44
Porokeratosis of Mibelli	mibelli's disease//porokeratosis, mibelli	MVK;PMVK	MVK;PMVK	https://raresource.nih.gov/literature/disease/0004438	0004438		735	C0949506		mevalonate kinase; phosphomevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis of Mibelli"	184
Cutaneous porphyria	cep//cep - congenital erythropoietic porphyria//congenital erythropoietic porphyria//congenital photosensitive porphyria//congenital porphyria//erythropoietic porphyria//gunther disease//gunther's disease//günther disease//hematoporphyria congenita//porphyria erythropoietica//porphyria, erythropoietic//uroporphyrinogen iii synthase deficiency//uroporphyrinogen iii synthase, deficiency of//uros deficiency	UROS	UROS	https://raresource.nih.gov/literature/disease/0004446	0004446	263700	79277	C5886774	D017092	uroporphyrinogen III synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutaneous porphyria"	867
Potassium-aggravated myotonia	k+-aggravated myotonia//k-aggravated myotonia//myotonia congenita, acetazolamide-responsive//myotonia congenita, atypical//myotonia congenita, atypical, acetazolamide-responsive//pam//sodium channel muscle disease//sodium channel myotonia	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0004459	0004459	608390	612	C2931826	C538353	sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Potassium-aggravated myotonia"	832
Guttmacher syndrome	preaxial deficiency, postaxial polydactyly, hypospadias syndrome//preaxial deficiency-postaxial polydactyly-hypospadias syndrome	HOXA13	HOXA13	https://raresource.nih.gov/literature/disease/0004470	0004470	176305	2957	C1867801	C538278	homeobox A13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Guttmacher syndrome"	2
Gonadotropin-independent familial sexual precocity	familial gonadotropin-independent male-limited sexual precocity//familial male-limited precocious puberty//familial testotoxicosis//fmpp//leydig cell adenoma, somatic, with precocious puberty//lhcgr peripheral precocious puberty//male-limited precocious puberty//peripheral precocious puberty caused by mutation in lhcgr//precocious puberty, male//testotoxicosis//testotoxicosis, familial	LHCGR	LHCGR	https://raresource.nih.gov/literature/disease/0004475	0004475	176410	3000	C0342549		luteinizing hormone/choriogonadotropin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gonadotropin-independent familial sexual precocity"	153
Inherited prekallikrein deficiency	congenital prekallikrein deficiency//fletcher factor (prekallikrein) deficiency//hereditary prekallikrein deficiency	KLKB1	KLKB1	https://raresource.nih.gov/literature/disease/0004477	0004477		749	CN305372	C562725	kallikrein B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inherited prekallikrein deficiency"	1879
Prieto syndrome	mental retardation, x-linked, syndromic 2//prieto syndrome, x-linked recessive//prieto-badia-mulas syndrome//x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	WNK3	WNK3	https://raresource.nih.gov/literature/disease/0004482	0004482	309610	2958	C1839730	C535274	WNK lysine deficient protein kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prieto syndrome"	2
Griscelli syndrome type 2	griscelli syndrome with hemophagocytic syndrome//griscelli-pruni??ras syndrome type 2//griscelli-prunic)ras syndrome type 2//griscelli-pruniéras syndrome type 2//griscelli-pruni��ras syndrome type 2//gs2//hypopigmentation-immunodeficiency with or without neurologic impairment syndrome//paid syndrome//partial albinism and immunodeficiency syndrome	RAB27A	RAB27A	https://raresource.nih.gov/literature/disease/0004483	0004483	607624	79477	C1868679	C537302	RAB27A, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Griscelli syndrome type 2"	99
Primary ciliary dyskinesia	ciliary dyskinesia//ciliary motility disorder//dysmotile cilia syndrome//ics - immotile cilia syndrome//immotile cilia syndrome//immotile ciliary syndrome//kartagener's syndrome//lack of coordinated beating of respiratory cilia//pcd	LRRC56;DNAH11;DNAI1;NEK10;HYDIN;DRC1;DNAAF5;SPEF2;CFAP300;ODAD3;CCDC39;STK36;NME8;CFAP298;RSPH1;SPAG1;MCIDAS;DNAAF1;CCDC65;DNAH5;ODAD4;DNAAF6;DNAH1;NME5;DNAAF4;RSPH4A;DNAH9;DNAAF19;GAS8;RSPH9;CCDC40;ODAD1;DNAAF3;DNAJB13;CFAP221;CCNO;DNAAF2;RSPH3;FOXJ1;RPGR;DNAL1;ODAD2;OFD1;DNAAF11;DNAI2;ZMYND10;TTC12;CFAP74;GAS2L2	LRRC56;DNAH11;DNAI1;NEK10;HYDIN;DRC1;DNAAF5;SPEF2;CFAP300;ODAD3;CCDC39;STK36;NME8;CFAP298;RSPH1;SPAG1;MCIDAS;DNAAF1;CCDC65;DNAH5;ODAD4;DNAAF6;DNAH1;NME5;DNAAF4;RSPH4A;DNAH9;DNAAF19;GAS8;RSPH9;CCDC40;ODAD1;DNAAF3;DNAJB13;CFAP221;CCNO;DNAAF2;RSPH3;FOXJ1;RPGR;DNAL1;ODAD2;OFD1;DNAAF11;DNAI2;ZMYND10;TTC12;CFAP74;GAS2L2	https://raresource.nih.gov/literature/disease/0004484	0004484		244	C0008780	D002925;D007619	leucine rich repeat containing 56; dynein axonemal heavy chain 11; dynein axonemal intermediate chain 1; NIMA related kinase 10; HYDIN axonemal central pair apparatus protein; dynein regulatory complex subunit 1; dynein axonemal assembly factor 5; sperm flagellar 2; cilia and flagella associated protein 300; outer dynein arm docking complex subunit 3; coiled-coil domain 39 molecular ruler complex subunit; serine/threonine kinase 36; NME/NM23 family member 8; cilia and flagella associated protein 298; radial spoke head component 1; sperm associated antigen 1; multiciliate differentiation and DNA synthesis associated cell cycle protein; dynein axonemal assembly factor 1; coiled-coil domain containing 65; dynein axonemal heavy chain 5; outer dynein arm docking complex subunit 4; dynein axonemal assembly factor 6; dynein axonemal heavy chain 1; NME/NM23 family member 5; dynein axonemal assembly factor 4; radial spoke head component 4A; dynein axonemal heavy chain 9; dynein axonemal assembly factor 19; growth arrest specific 8; radial spoke head component 9; coiled-coil domain 40 molecular ruler complex subunit; outer dynein arm docking complex subunit 1; dynein axonemal assembly factor 3; DnaJ heat shock protein family (Hsp40) member B13; cilia and flagella associated protein 221; cyclin O; dynein axonemal assembly factor 2; radial spoke head 3; forkhead box J1; retinitis pigmentosa GTPase regulator; dynein axonemal light chain 1; outer dynein arm docking complex subunit 2; OFD1 centriole and centriolar satellite protein; dynein axonemal assembly factor 11; dynein axonemal intermediate chain 2; zinc finger MYND-type containing 10; tetratricopeptide repeat domain 12; cilia and flagella associated protein 74; growth arrest specific 2 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia"	4453
Juvenile primary lateral sclerosis	jpls//juvenile pls//plsj	ALS2	ALS2	https://raresource.nih.gov/literature/disease/0004485	0004485	606353	247604	C1853396	C536416	alsin Rho guanine nucleotide exchange factor ALS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile primary lateral sclerosis"	19
Primrose syndrome	intellectual disability, cataract, calcified pinna, myopathy syndrome//intellectual disability-cataracts-calcified pinnae-myopathy syndrome	ZBTB20	ZBTB20	https://raresource.nih.gov/literature/disease/0004488	0004488	259050	3042	C0796121	C536420	zinc finger and BTB domain containing 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primrose syndrome"	29
Fontaine progeroid syndrome	craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora//craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence//craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies//craniofacial dysostosis-genital, dental, cardiac anomalies syndrome//cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome//dental and eye anomalies, patent ductus arteriosus, and normal intelligence//dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome//fps//gcm syndrome//gcms//gorlin chaudhry moss syndrome//gorlin-chaudhry-moss syndrome//petty laxova wiedemann syndrome//petty syndrome//petty-laxova-wiedemann syndrome//progeroid syndrome congenital petty type//progeroid syndrome petty type//progeroid syndrome, petty type	SLC25A24	SLC25A24	https://raresource.nih.gov/literature/disease/0004497	0004497	612289		C2676780	C537290	solute carrier family 25 member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fontaine progeroid syndrome"	96
X-linked mixed hearing loss with perilymphatic gusher	deafness, x-linked 2//dfnx2//dfnx2 nonsyndromic hearing loss and deafness//gusher syndrome//nance deafness//perilymphatic gusher-deafness syndrome//sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear//x-linked mixed conductive and neurosensory hearing loss//x-linked mixed conductive and sensorineural hearing loss//x-linked stapes gusher syndrome	POU3F4	POU3F4	https://raresource.nih.gov/literature/disease/0004504	0004504	304400		C1844678		POU class 3 homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked mixed hearing loss with perilymphatic gusher"	24
Prolactin-producing pituitary gland adenoma	familial prolactinoma//lactotrope adenoma//lactotroph adenoma//lactotroph cell adenoma//pituitary adenoma, prolactin-secreting//pituitary gland prolactinoma//pituitary lactotrophic adenoma//pituitary prolactin cell adenoma//pituitary prolactinoma//prl producing pituitary gland adenoma//prl-secreting pituitary adenoma//prloma//prolactin producing adenoma of pituitary//prolactin producing adenoma of pituitary gland//prolactin producing adenoma of the pituitary//prolactin producing adenoma of the pituitary gland//prolactin producing pituitary adenoma//prolactin secreting adenoma//prolactin secreting adenoma of pituitary//prolactin secreting adenoma of pituitary gland//prolactin secreting adenoma of the pituitary//prolactin secreting adenoma of the pituitary gland//prolactin secreting pituitary adenoma//prolactin secreting pituitary gland adenoma//prolactin-secreting pituitary adenoma//prolactinoma//prolactinoma of pituitary//prolactinoma of pituitary gland//prolactinoma of the pituitary//prolactinoma of the pituitary gland	AIP	AIP	https://raresource.nih.gov/literature/disease/0004508	0004508		2965	C0033375	D015175	AHR interacting HSP90 co-chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prolactin-producing pituitary gland adenoma"	1482
Properdin deficiency, X-linked	cfpd//complement factor properdin deficiency//properdin deficiency//properdin deficiency, type 1//properdin deficiency, type i//properdin deficiency, x-linked, x-linked recessive//properdin p factor deficiency	CFP	CFP	https://raresource.nih.gov/literature/disease/0004513	0004513	312060	2966	C1839454	C537241	complement factor properdin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Properdin deficiency, X-linked"	6122
Autosomal erythropoietic protoporphyria	epp	FECH	FECH	https://raresource.nih.gov/literature/disease/0004527	0004527		79278	CN283243		ferrochelatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal erythropoietic protoporphyria"	469
Corpus callosum agenesis-abnormal genitalia syndrome	acc with abnormal genitalia//acc-abnormal genitalia syndrome//agenesis of corpus callosum and abnormal genitalia syndrome//agenesis of corpus callosum with abnormal genitalia//microcephaly, corpus callosum agenesis, abnormal genitalia syndrome//microcephaly-corpus callosum agenesis-abnormal genitalia syndrome//proud levine carpenter syndrome//proud syndrome//proud-levine-carpenter syndrome	ARX	ARX	https://raresource.nih.gov/literature/disease/0004528	0004528	300004	2508	C0796124	C563110	aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corpus callosum agenesis-abnormal genitalia syndrome"	5
Bifunctional peroxisomal enzyme deficiency	bifunctional enzyme deficiency//d-bifunctional enzyme deficiency//d-bifunctional protein deficiency//dbif//dbp deficiency//hsd17b4 deficiency//multifunctional enzyme deficiency//pbfe deficiency//peroxisomal multifunctional enzyme (mfe2) deficiency//peroxisomal multifunctional enzyme deficiency//pseudo-zellweger syndrome	HSD17B4	HSD17B4	https://raresource.nih.gov/literature/disease/0004539	0004539	261515	300	C0342870		hydroxysteroid 17-beta dehydrogenase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bifunctional peroxisomal enzyme deficiency"	83
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	psach//pseudoachondroplasia//pseudoachondroplastic dysplasia//pseudoachondroplastic spondyloepiphyseal dysplasia//sed syndrome//spondyloepiphyseal dysplasia, pseudoachondroplastic	COMP	COMP	https://raresource.nih.gov/literature/disease/0004540	0004540	177170	750	C0410538	C535819	cartilage oligomeric matrix protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome"	1278
Acyl-CoA oxidase deficiency	acox1 deficiency//acyl-coenzyme a oxidase deficiency//peroxisomal acyl-coa oxidase deficiency//peroxisomal acyl-coenzyme a oxidase//pseudo-nald//pseudo-neonatal adrenoleucodystrophy//pseudo-neonatal adrenoleukodystrophy//pseudoadrenoleukodystrophy//pseudoneonatal adrenoleukodystrophy//straight-chain acyl-coa oxidase deficiency	ACOX1	ACOX1	https://raresource.nih.gov/literature/disease/0004543	0004543	264470	2971	C1849678	C536662	acyl-CoA oxidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acyl-CoA oxidase deficiency"	44
Pseudohypoaldosteronism, type IB1, autosomal recessive	autosomal recessive pha 1//autosomal recessive pha1//autosomal recessive pseudohypoaldosteronism type 1//generalised pha1//generalised pseudohypoaldosteronism type 1//generalized pha1//generalized pseudohypoaldosteronism type 1//pha i, autosomal recessive//pha1b//pseudohypoaldosteronism type 1, recessive//pseudohypoaldosteronism, type i, autosomal recessive//pseudohypoaldosteronism, type i, recessive	SCNN1A	SCNN1A	https://raresource.nih.gov/literature/disease/0004552	0004552	264350	171876	C5774176		sodium channel epithelial 1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism, type IB1, autosomal recessive"	1324
Hereditary pulmonary alveolar proteinosis	congenital pap//congenital pulmonary alveolar proteinosis//genetic disorder of surfactant dysfunction//inborn error of pulmonary surfactant metabolism//inborn error of surfactant metabolism//pulmonary surfactant metabolism dysfunction	CSF2RA;CSF2RB	CSF2RA;CSF2RB	https://raresource.nih.gov/literature/disease/0004582	0004582		264675	C3711368	C535832	colony stimulating factor 2 receptor subunit alpha; colony stimulating factor 2 receptor subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary pulmonary alveolar proteinosis"	13525
Purine-nucleoside phosphorylase deficiency	deficiency of inosine phosphorylase//deficiency of purine-nucleoside phosphorylase//immunodeficiency due to purine nucleoside phosphorylase deficiency//np - nucleoside phosphorylase deficiency//np deficiency//nucleoside phosphorylase deficiency//pnp - purine nucleoside phosphorylase deficiency//pnp deficiency//pnpase deficiency	PNP	PNP	https://raresource.nih.gov/literature/disease/0004606	0004606	613179	760	C0268125	C562587	purine nucleoside phosphorylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Purine-nucleoside phosphorylase deficiency"	209
Pyknodysostosis	maroteaux-lamy pyknodysostosis syndrome//maroteaux-lamy syndrome ii//pycnodysostosis//stanesco's dysostosis syndrome	CTSK	CTSK	https://raresource.nih.gov/literature/disease/0004611	0004611	265800	763	C0238402	D058631	cathepsin K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyknodysostosis"	421
Pyle metaphyseal dysplasia	bakwin-krida syndrome//metaphyseal dysostosis//metaphyseal dysplasia, pyle type//pyl//pyle disease//pyle's disease//pyle's syndrome//pyle-cohn syndrome	SFRP4	SFRP4	https://raresource.nih.gov/literature/disease/0004612	0004612	265900	3005	C0265294	C536252	secreted frizzled related protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyle metaphyseal dysplasia"	134
Pyropoikilocytosis, hereditary	hereditary pyropoikilocytosis//hpp - hereditary pyropoikilocytosis//pyropoikilocytosis	SPTA1	SPTA1	https://raresource.nih.gov/literature/disease/0004619	0004619	266140		C0520739	C563004	spectrin alpha, erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyropoikilocytosis, hereditary"	131
Pyruvate dehydrogenase E1-alpha deficiency	ataxia, intermittent, with abnormal pyruvate metabolism//ataxia, intermittent, with pyruvate dehydrogenase deficiency//ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency//pdhad//pyruvate dehydrogenase complex e1 component subunit alpha deficiency//pyruvate dehydrogenase e1-alpha deficiency, x-linked dominant//x-linked leigh syndrome	PDHA1	PDHA1	https://raresource.nih.gov/literature/disease/0004620	0004620	312170	79243	C1839413	C564071	pyruvate dehydrogenase E1 subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E1-alpha deficiency"	15
Oculofaciocardiodental syndrome	bcor-related lenz microphthalmia syndrome//cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome//mcops2//microphthalmia syndromic 2//microphthalmia, cataract, radiculomegaly and septal heart defect//microphthalmia, syndromic 2//microphthalmia, syndromic 2, x-linked dominant//microphthalmia, syndromic type 2//ofcd syndrome//syndromic microphthalmia 2	BCOR	BCOR	https://raresource.nih.gov/literature/disease/0004628	0004628	300166	2712	C1846265		BCL6 corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculofaciocardiodental syndrome"	270
Leukocyte adhesion deficiency type II	cdg 2c//cdg iic//cdg syndrome type iic//cdg-iic//cdg2c//cdgiic//congenital disorder of glycosylation type 2c//congenital disorder of glycosylation type iic//congenital disorder of glycosylation, type iic//lad - leukocyte adhesion deficiency type 2//lad-ii//lad-type ii//lad2//leukocyte adhesion deficiency - type 2//leukocyte adhesion deficiency type 2//leukocyte adhesion molecule deficiency - type 2//rambam hasharon syndrome//rambam-hasharon syndrome//rhs//sialyl-lewis x defect//slc35c1-cdg//slc35c1-cdg (cdg-iic)	SLC35C1	SLC35C1	https://raresource.nih.gov/literature/disease/0004634	0004634	266265	99843	C0398739	C535755	solute carrier family 35 member C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukocyte adhesion deficiency type II"	291
Rapadilino syndrome	rapadilino - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence	RECQL4	RECQL4	https://raresource.nih.gov/literature/disease/0004637	0004637	266280	3021	C1849453	C535288	RecQ like helicase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rapadilino syndrome"	21
NPHP3-related Meckel-like syndrome	goldston syndrome//meckel syndrome type 7//meckel-gruber syndrome, type 7//meckel-like syndrome type 1//mks7//nephrocystin 3-related meckel-like syndrome//nphp3 (nephrocystin 3) related meckel-like syndrome//nphp3-related meckel syndrome//renal, hepatic, pancreatic dysplasia, dandy-walker cysts syndrome//renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome	NPHP3	NPHP3	https://raresource.nih.gov/literature/disease/0004665	0004665	267010	3032	C2673885	C537756	nephrocystin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NPHP3-related Meckel-like syndrome"	10
Autosomal recessive distal renal tubular acidosis	ar drta//autosomal recessive distal renal tubular acidosis (disease)//autosomal recessive distal rta//distal renal tubular acidosis (disease), autosomal recessive	ATP6V0A4;ATP6V1B1;WDR72;FOXI1	ATP6V0A4;ATP6V1B1;WDR72;FOXI1	https://raresource.nih.gov/literature/disease/0004666	0004666		402041	C1864498		ATPase H+ transporting V0 subunit a4; ATPase H+ transporting V1 subunit B1; WD repeat domain 72; forkhead box I1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive distal renal tubular acidosis"	35
Autosomal dominant distal renal tubular acidosis	ad drta//distal renal tubular acidosis (disease), autosomal dominant//drta1//renal tubular acidosis, distal 1//renal tubular acidosis, distal, 1//renal tubular acidosis, type i//rta, classic type//rta, distal type, autosomal dominant//rta, gradient type	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0004668	0004668	179800	93608	CN280572		solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant distal renal tubular acidosis"	350
Juvenile retinoschisis	juvenile x-linked retinoschisis//retinoschisis, x-linked//retinoschisis, x-linked recessive//rs1//x-linked juvenile retinoschisis//x-linked juvenile retinoschisis type 1//x-linked retinoschisis//xlrs	RS1	RS1	https://raresource.nih.gov/literature/disease/0004690	0004690	312700	792	C3714753		retinoschisin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile retinoschisis"	708
Atypical Rett syndrome	atypical rtt//rett like syndrome//rett syndrome variant	CDKL5;MECP2;SMC1A;GABBR2;NTNG1	CDKL5;MECP2;SMC1A;GABBR2;NTNG1	https://raresource.nih.gov/literature/disease/0004694	0004694		3095	C2748910		cyclin dependent kinase like 5; methyl-CpG binding protein 2; structural maintenance of chromosomes 1A; gamma-aminobutyric acid type B receptor subunit 2; netrin G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical Rett syndrome"	109
Revesz syndrome	dkca5//dyskeratosis congenita with bilateral exudative retinopathy//dyskeratosis congenita, autosomal dominant 5//exudative retinopathy with bone marrow failure//retinopathy, anemia, central nervous system anomalies syndrome//retinopathy-anemia-central nervous system anomalies syndrome//revesz debuse syndrome//revesz-debuse syndrome	TINF2	TINF2	https://raresource.nih.gov/literature/disease/0004695	0004695	268130	3088	C1327916	C538371	TERF1 interacting nuclear factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Revesz syndrome"	33
Reynolds syndrome	primary biliary cirrhosis and systemic scleroderma//primary biliary cirrhosis co-occurrent with systemic scleroderma//primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia	LBR	LBR	https://raresource.nih.gov/literature/disease/0004697	0004697	613471	779	C0748397		lamin B receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reynolds syndrome"	112
Alveolar rhabdomyosarcoma	alveolar childhood rhabdomyosarcoma//alveolar rhabdomyosarcoma (disease)//alveolar rhabdomyosarcoma (morphologic abnormality)//arms//monomorphous round cell rhabdomyosarcoma//paediatric alveolar rhabdomyosarcoma//pediatric alveolar rhabdomyosarcoma//rhabdomyosarcoma 2//rhabdomyosarcoma 2, alveolar, somatic mutation//rhabdomyosarcoma type 2//rhabdomyosarcoma, alveolar, somatic mutation//rms2	PAX3;PAX7;FOXO1	PAX3;PAX7;FOXO1	https://raresource.nih.gov/literature/disease/0004701	0004701	268220	99756	C0206655	D018232	paired box 3; paired box 7; forkhead box O1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alveolar rhabdomyosarcoma"	1762
Embryonal rhabdomyosarcoma	botryoid rhabdomyosarcoma (type of erms)//embryonal rhabdomyosarcoma (disease)//erms//rhabdomyosarcoma, embryonal, type 1//rhabdomyosarcoma, somatic//spindle cell rhabdomyosarcomas (type of erms)	SLC67A1	SLC67A1	https://raresource.nih.gov/literature/disease/0004702	0004702	268210	99757	C0206656	D018233	solute carrier family 67 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Embryonal rhabdomyosarcoma"	37
Richieri Costa-Pereira syndrome	robin sequence with cleft mandible and limb anomalies//robin sequence with cleft mandible and limb anomalies syndrome//short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome//short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome//short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome	EIF4A3	EIF4A3	https://raresource.nih.gov/literature/disease/0004718	0004718	268305	3102	C1849348	C535677	eukaryotic translation initiation factor 4A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Richieri Costa-Pereira syndrome"	39
Rigid spine syndrome	rigid spine congenital muscular dystrophy//rss	SELENON;ACTA1	SELENON;ACTA1	https://raresource.nih.gov/literature/disease/0004723	0004723		97244	CN293569	C535683	selenoprotein N; actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rigid spine syndrome"	148
Robinow-Sorauf syndrome	acrocephalosyndactyly, robinow-sorauf type//craniosynostosis-bifid hallux syndrome	TWIST1	TWIST1	https://raresource.nih.gov/literature/disease/0004730	0004730	180750		C1867146	C537183	twist family bHLH transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Robinow-Sorauf syndrome"	5
Autosomal dominant deafness - onychodystrophy syndrome	autosomal dominant deafness with onychodystrophy syndrome//autosomal dominant hearing loss, onychodystrophy syndrome//autosomal dominant hearing loss-onychodystrophy syndrome//ddod (dominant deafness onychodystrophy) syndrome//ddod syndrome//deafness, congenital, with onychodystrophy, autosomal dominant//deafness-onychodystrophy syndrome, autosomal dominant	ATP6V1B2	ATP6V1B2	https://raresource.nih.gov/literature/disease/0004732	0004732	124480	79499	C2675730		ATPase H+ transporting V1 subunit B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant deafness - onychodystrophy syndrome"	9
Roussy-Lévy syndrome	hereditary areflexic dystasia//hereditary areflexic dystasia, roussy-levy type//hereditary areflexic dystasia, roussy-lévy type//hereditary ataxia-muscular atrophy syndrome//roussy levy hereditary areflexic dystasia//roussy levy syndrome//roussy-levy disease//roussy-levy syndrome	MPZ;PMP22	MPZ;PMP22	https://raresource.nih.gov/literature/disease/0004741	0004741	180800	3115	C0205713		myelin protein zero; peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Roussy-Lévy syndrome"	58
Salla disease	adult sialic acid storage disease//free sialic acid storage disorders//infantile sialic acid storage disorder (issd)//n-acetylneuraminic acid (nana) storage disease (nsd)//sd//sialic acid storage disease//sialuria, finnish type	SLC17A5	SLC17A5	https://raresource.nih.gov/literature/disease/0004754	0004754	604369	309334	C1096903		solute carrier family 17 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Salla disease"	5440
Schwannomatosis	neurilemmomatosis//neurinomatosis//neurofibromatosis type 3//nf3	SMARCB1	SMARCB1	https://raresource.nih.gov/literature/disease/0004768	0004768		93921	C1335929		SWI/SNF related BAF chromatin remodeling complex subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schwannomatosis"	501
Ullrich congenital muscular dystrophy	congenita hypotonic - sclerotic muscular dystrophy//congenital muscular dystrophy, ullrich type//scleroatonic muscular dystrophy//scleroatonic ullrich disease//ucmd//ullrich disease//ullrich muscular dystrophy//ullrich scleroatonic muscular dystrophy	COL6A1;COL6A3;COL12A1;COL6A2	COL6A1;COL6A3;COL12A1;COL6A2	https://raresource.nih.gov/literature/disease/0004769	0004769		75840	C4551860	C537521	collagen type VI alpha 1 chain; collagen type VI alpha 3 chain; collagen type XII alpha 1 chain; collagen type VI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ullrich congenital muscular dystrophy"	222
Sclerosteosis	cortical hyperostosis with syndactyly//cortical hyperostosis-syndactyly syndrome	LRP4;SOST	LRP4;SOST	https://raresource.nih.gov/literature/disease/0004771	0004771		3152	C0265301	C537525	LDL receptor related protein 4; sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sclerosteosis"	152
Succinyl-CoA acetoacetate transferase deficiency	3-ketoacid coa transferase deficiency//3-oxoacid coa transferase deficiency//ketoacidosis due to scot deficiency//oxct1 deficiency//scot deficiency//scotd//succinyl coa:3-oxoacid coa transferase deficiency//succinyl-coa 3-ketoacid transferase deficiency//succinyl-coa:3-ketoacid coa transferase deficiency//succinyl-coa:3-ketoacid coa-transferase deficiency//succinyl-coa:3-oxoacid coa transferase deficiency//succinyl-coenzyme a acetoacetate transferase deficiency//thioacyl transferase deficiency	OXCT1	OXCT1	https://raresource.nih.gov/literature/disease/0004774	0004774	245050	832	C0342792	C537527	3-oxoacid CoA-transferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Succinyl-CoA acetoacetate transferase deficiency"	38
Faciodigitogenital syndrome	aarskog-scott syndrome//faciogenital dysplasia	FGD1	FGD1	https://raresource.nih.gov/literature/disease/0004775	0004775		915	CN293568		FYVE, RhoGEF and PH domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Faciodigitogenital syndrome"	124
SCOTT SYNDROME	bdplt7//bleeding abnormality due to deficiency of platelet biding of factor x//bleeding abnormality due to deficiency of platelet binding of factor x//bleeding disorder, platelet-type, 7//familial prothrombin consumption inhibitor//familial prothrombin conversion defect//platelet factor x receptor deficiency//platelet-type bleeding disorder 7//prothrombin consumption deficiency//prothrombin consumption inhibitor, familial//prothrombin conversion defect, familial//scts	ANO6	ANO6	https://raresource.nih.gov/literature/disease/0004777	0004777	262890	806	C0796149	C563120	anoctamin 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SCOTT SYNDROME"	251
Renal hypodysplasia/aplasia 1	rhda1//urogenital adysplasia, hereditary	ITGA8	ITGA8	https://raresource.nih.gov/literature/disease/0004791	0004791			C1619700		integrin subunit alpha 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypodysplasia/aplasia 1"	1948
Testicular seminoma	seminoma of testis//seminoma of the testis//seminoma testis//seminomatous germ cell tumor of testis//seminomatous germ cell tumour of testis//testicular seminoma (disease)//testicular seminoma pure//testicular seminomatous germ cell tumor//testicular seminomatous germ cell tumour//testis seminoma	KIT	KIT	https://raresource.nih.gov/literature/disease/0004792	0004792		842	C5551428		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Testicular seminoma"	4566
Deficiency of butyryl-CoA dehydrogenase	acads - short chain acyl-coenzyme a dehydrogenase deficiency//acads deficiency//acadsd//acyl-coa dehydrogenase, short-chain deficiency//acyl-coa dehydrogenase, short-chain, deficiency of//butyryl-coa dehydrogenase deficiency//deficiency of butyryl dehydrogenase//deficiency of unsaturated acyl-coa reductase//scad//scad - short chain acyl-coa dehydrogenase deficiency//scad deficiency//scad deficiency, mild//scadd//scadh deficiency//short chain acyl coa dehydrogenase deficiency//short chain acyl-coa dehydrogenase deficiency//short chain acyl-coenzyme a dehydrogenase deficiency//short-chain acyl-coa dehydrogenase deficiency (scad)//short-chain acyl-coenzyme a dehydrogenase deficiency (scad)	ACADS	ACADS	https://raresource.nih.gov/literature/disease/0004822	0004822	201470	26792	C0342783	C537596	acyl-CoA dehydrogenase short chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of butyryl-CoA dehydrogenase"	1607
Type IV short rib polydactyly syndrome	beemer-langer syndrome//beemer-langer type short rib polydactyly syndrome//short rib polydactyly syndrome, beemer-langer type//short rib syndrome, beemer type//short rib-polydactyly syndrome beemer type//short rib-polydactyly syndrome type 4//short rib-polydactyly syndrome, beemer-langer type//srps iv//srps type 4//srtd12	IFT80	IFT80	https://raresource.nih.gov/literature/disease/0004832	0004832	269860	93268	C0432198	C537599	intraflagellar transport 80	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Type IV short rib polydactyly syndrome"	8
Short rib-polydactyly syndrome, Majewski type	short rib-polydactyly syndrome type 2//srps, type ii	NEK1;TRAF3IP1;DYNC2H1	NEK1;TRAF3IP1;DYNC2H1	https://raresource.nih.gov/literature/disease/0004833	0004833		93269	CN305384		NIMA related kinase 1; TRAF3 interacting protein 1; dynein cytoplasmic 2 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short rib-polydactyly syndrome, Majewski type"	5
Shprintzen-Goldberg syndrome	craniosynostosis with arachnodactyly and abdominal hernias//marfanoid craniosynostosis syndrome//marfanoid disorder with craniosynostosis type 1//sgs//shprintzen goldberg craniosynostosis syndrome//shprintzen-goldberg craniosynostosis syndrome//shprintzen-goldberg marfanoid syndrome	SKI	SKI	https://raresource.nih.gov/literature/disease/0004861	0004861	182212	2462	C1321551		SKI proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shprintzen-Goldberg syndrome"	456
Shwachman syndrome	congenital lipomatosis of pancreas//lipomatosis of pancreas, congenital//metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia//metaphyseal chondrodysplasia, shwachman type//metaphyseal dysplasia with malabsorption and neutropenia//pancreatic insufficiency and bone marrow dysfunction//schwachman's syndrome//schwachman-bodian syndrome//schwachman-diamond syndrome//schwachmann-diamond syndrome//sds//shwachman diamond syndrome//shwachman's syndrome//shwachman-bodian syndrome//shwachman-bodian-diamond syndrome//shwachman-diamond syndrome	EFL1;DNAJC21;SBDS	EFL1;DNAJC21;SBDS	https://raresource.nih.gov/literature/disease/0004863	0004863		811	C0272170	C537330;D000081003	elongation factor like GTPase 1; DnaJ heat shock protein family (Hsp40) member C21; SBDS ribosome maturation factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shwachman syndrome"	265
Sialuria	sialic acid storage disease//sialuria, french type	GNE	GNE	https://raresource.nih.gov/literature/disease/0004865	0004865	269921	3166	C0342853	D029461	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sialuria"	98
Solitary median maxillary central incisor syndrome	fused incisors//only one upper front tooth//single central incisor//single central incisor syndrome//single central maxillary incisor//single central upper incisor//single maxillary central incisor//single median incisor//single median maxillary central incisor//single median maxillary incisor//single midline maxillary incisor//single midline upper front tooth//single upper central incisor//smmci//smmci syndrome//solitary median maxillary central incisor//solitary midline maxillary central incisor	SHH	SHH	https://raresource.nih.gov/literature/disease/0004877	0004877	147250		C1840235	C537342	sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Solitary median maxillary central incisor syndrome"	64
Multiple endocrine neoplasia type 2A	mea type 2a//mea type ii//men (multiple endocrine neoplasia) type 2a//men 2a//men type 2a//men type ii//men-2a syndrome//men2a//men2a - multiple endocrine neoplasia type 2a//multiple endocrine adenomatosis type 2a//multiple endocrine adenomatosis type ii//multiple endocrine adenomatosis, type ii//multiple endocrine neoplasia ii//multiple endocrine neoplasia iia//multiple endocrine neoplasia type ii//multiple endocrine neoplasia, type ii//multiple endocrine neoplasia, type iia//pheochromocytoma and amyloid producing medullary thyroid carcinoma//ret-related multiple endocrine neoplasia type 2a	RET	RET	https://raresource.nih.gov/literature/disease/0004881	0004881	171400	247698	C0025268	D018813	ret proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple endocrine neoplasia type 2A"	1210
Situs inversus	all organs on wrong side of body//complete situs inversus//complete situs inversus viscerum//complete transposition (morphologic abnormality)//laterality sequence//situs inversus totalis//situs inversus totalis (disease)//situs oppositus//situs transversus	DNAH9;CIROP;CFAP52;NME7;MMP21;NODAL;PKD1L1;ANKS3;CFAP53	DNAH9;CIROP;CFAP52;NME7;MMP21;NODAL;PKD1L1;ANKS3;CFAP53	https://raresource.nih.gov/literature/disease/0004883	0004883		101063	C4551493	D012857	dynein axonemal heavy chain 9; ciliated left-right organizer metallopeptidase; cilia and flagella associated protein 52; NME/NM23 family member 7; matrix metallopeptidase 21; nodal growth differentiation factor; polycystin 1 like 1, transient receptor potential channel interacting; ankyrin repeat and sterile alpha motif domain containing 3; cilia and flagella associated protein 53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Situs inversus"	923
Spondyloepimetaphyseal dysplasia, Bieganski type	h-smd//hypomyelination-spondyloepimetaphyseal dysplasia syndrome//leukoencephalopathy with metaphyseal chondrodysplasia//leukoencephalopathy-metaphyseal chondrodysplasia syndrome//leukoencephalopathy-semd syndrome//leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome//semd x-linked with mental deterioration//spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy//spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy, x-linked recessive	AIFM1	AIFM1	https://raresource.nih.gov/literature/disease/0004891	0004891	300232	83629	C1846148	C536671;C567065	apoptosis inducing factor mitochondria associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Bieganski type"	1
Charlevoix-Saguenay spastic ataxia	arsacs//arsacs - autosomal recessive spastic ataxia of charlevoix-saguenay//autosomal recessive spastic ataxia of charlevoix-saguenay//autosomal recessive spastic ataxia type 6//sacs//spastic ataxia 6, autosomal recessive//spastic ataxia of charlevoix-saguenay//spax6	SACS	SACS	https://raresource.nih.gov/literature/disease/0004910	0004910	270550	98	C1849140	C536787	sacsin molecular chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charlevoix-Saguenay spastic ataxia"	335
Infantile-onset ascending hereditary spastic paralysis	autosomal recessive juvenile amyotrophic lateral sclerosis//iahsp//iahsp - infantile onset ascending hereditary spastic paralysis//infantile ascending hereditary spastic paralysis	ALS2	ALS2	https://raresource.nih.gov/literature/disease/0004914	0004914	607225	293168	C2931441	C537217	alsin Rho guanine nucleotide exchange factor ALS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset ascending hereditary spastic paralysis"	36
Hereditary spastic paraplegia 11	autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum//autosomal recessive spastic paraplegia 11//autosomal recessive spastic paraplegia complicated with thin corpus callosum//autosomal recessive spastic paraplegia type 11//autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum//hereditary spastic paraplegia caused by mutation in spg11//hereditary spastic paraplegia type 11//hsp-tcc//nakamura osame syndrome//nakamura-osame syndrome//spastic paraplegia 11//spastic paraplegia, mental retardation and thin corpus callosum//spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum//spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum//spastic paraplegia-intellectual disability-thin corpus callosum syndrome//spg11//spg11 hereditary spastic paraplegia//spg11-related hereditary spastic paraplegia with thin corpus callosum	SPG11	SPG11	https://raresource.nih.gov/literature/disease/0004919	0004919	604360	2822	C1858479		SPG11 vesicle trafficking associated, spatacsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 11"	589
Hereditary spastic paraplegia 18	autosomal recessive complex spastic paraplegia caused by mutation in erlin2//autosomal recessive spastic paraplegia 18//autosomal recessive spastic paraplegia type 18//erlin2 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 18//intellectual disability, motor dysfunction and joint contractures//intellectual disability, motor dysfunction, and joint contractures//spastic paraplegia 18, autosomal recessive//spastic paraplegia 18b, autosomal recessive//spg18//spg18b	ERLIN2	ERLIN2	https://raresource.nih.gov/literature/disease/0004922	0004922	611225	209951	C2749936	C567628	ER lipid raft associated 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 18"	1
Hereditary spastic paraplegia 2	hereditary spastic paraplegia caused by mutation in plp1//hereditary spastic paraplegia type 2//plp1 hereditary spastic paraplegia//spastic gait type 2//spastic paraparesis type 2//spastic paraplegia 2, x-linked//spastic paraplegia 2, x-linked, x-linked recessive//spastic paraplegia type 2//spg2//x-linked spastic paraplegia 2//x-linked spastic paraplegia type 2	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0004923	0004923	312920	99015	C1839264		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 2"	64
Hereditary spastic paraplegia 39	autosomal recessive spastic paraplegia 39//autosomal recessive spastic paraplegia type 39//hereditary spastic paraplegia caused by mutation in pnpla6//hereditary spastic paraplegia type 39//nte-related motor neuron disorder//ntemnd//pnpla6 hereditary spastic paraplegia//spastic paraplegia 39, autosomal recessive//spastic paraplegia due to neuropathy target esterase mutation//spastic paraplegia due to nte (neuropathy target esterase) mutation//spastic paraplegia due to nte mutation//spg39	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0004924	0004924	612020	139480	C2677586	C567433	patatin like domain 6, lysophospholipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 39"	5
Hereditary spastic paraplegia 4	autosomal dominant spastic paraplegia 4//autosomal dominant spastic paraplegia type 4//familial spastic paraplegia autosomal dominant 2//hereditary spastic paraplegia caused by mutation in spast//hereditary spastic paraplegia type 4//spast hereditary spastic paraplegia//spastic paraplegia 4//spastic paraplegia 4, autosomal dominant//spg4	SPAST	SPAST	https://raresource.nih.gov/literature/disease/0004925	0004925	182601	100985	C1866855	C536865	spastin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 4"	77
Hereditary spastic paraplegia 5A	autosomal recessive spastic paraplegia 5a//autosomal recessive spastic paraplegia type 5a//cyp7b1 pure or complex autosomal recessive spastic paraplegia//hereditary spastic paraplegia type 5a//pure or complex autosomal recessive spastic paraplegia caused by mutation in cyp7b1//spastic paraplegia 5a, autosomal recessive//spastic paraplegia type 5b, recessive//spg5a	CYP7B1	CYP7B1	https://raresource.nih.gov/literature/disease/0004926	0004926	270800	100986	C1849115		cytochrome P450 family 7 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 5A"	2
Hereditary spastic paraplegia 7	autosomal recessive spastic paraplegia 7//autosomal recessive spastic paraplegia type 7//hereditary spastic paraplegia caused by mutation in spg7//hereditary spastic paraplegia paraplegin type//hereditary spastic paraplegia type 7//spastic paraplegia 7//spastic paraplegia type 7//spg7//spg7 hereditary spastic paraplegia	SPG7	SPG7	https://raresource.nih.gov/literature/disease/0004927	0004927	607259	99013	C1846564	C564599	SPG7 matrix AAA peptidase subunit, paraplegin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 7"	53
Hereditary spastic paraplegia 6	autosomal dominant familial spastic paraplegia type 3//autosomal dominant spastic paraplegia 6//autosomal dominant spastic paraplegia type 6//fsp3//hereditary spastic paraplegia caused by mutation in nipa1//hereditary spastic paraplegia type 6//nipa1 hereditary spastic paraplegia//spastic paraplegia 6//spastic paraplegia 6, autosomal dominant//spg6	NIPA1	NIPA1	https://raresource.nih.gov/literature/disease/0004928	0004928	600363	100988	C1838192	C536866	NIPA magnesium transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 6"	10
Weill-Marchesani syndrome	brachydactyly-spherophakia syndrome//brachymorphy with spherophakia syndrome//congenital mesodermal dystrophy//marchesani's syndrome//marchesani-weill syndrome//mesodermal dysmorphodystrophy congenital//mesodermal dysmorphodystrophy, congenital//spherophakia brachymorphia syndrome//spherophakia-brachymorphia syndrome//wm syndrome	ADAMTS10;ADAMTS17;LTBP2;FBN1	ADAMTS10;ADAMTS17;LTBP2;FBN1	https://raresource.nih.gov/literature/disease/0004936	0004936		3449	C0265313	D056846	ADAM metallopeptidase with thrombospondin type 1 motif 10; ADAM metallopeptidase with thrombospondin type 1 motif 17; latent transforming growth factor beta binding protein 2; fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weill-Marchesani syndrome"	187
Spinal muscular atrophy, type II	chronic infantile spinal muscular atrophy//chronic spinal muscular atrophy//intermediate spinal muscular atrophy//late infantile spinal muscular atrophy//muscular atrophy, spinal, infantile chronic form//muscular atrophy, spinal, intermediate type//proximal spinal muscular atrophy type 2//sma ii//sma type 2//sma type ii//sma-ii//sma2//spinal muscular atrophy-2	SMN1	SMN1	https://raresource.nih.gov/literature/disease/0004945	0004945	253550	83418	C0393538	C536879	survival of motor neuron 1, telomeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy, type II"	292
Spinal muscular atrophy with congenital bone fractures 1	prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in trip4//sma1 with congenital bone fractures//smabf1//spinal muscular atrophy with congenital bone fractures type 1//spinal muscular atrophy, type i, with congenital bone fractures//trip4 prenatal-onset spinal muscular atrophy with congenital bone fractures	TRIP4	TRIP4	https://raresource.nih.gov/literature/disease/0004947	0004947	616866		C4225177	C564805	thyroid hormone receptor interactor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy with congenital bone fractures 1"	None
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	autosomal recessive cerebellar ataxia-movement disorder syndrome//scar4//scasi//spinocerebellar ataxia 24//spinocerebellar ataxia with saccadic intrusions	VPS13D	VPS13D	https://raresource.nih.gov/literature/disease/0004952	0004952	607317	95434	C1846492	C537310	vacuolar protein sorting 13 homolog D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	397
Spinocerebellar ataxia type 5	sca5	SPTBN2	SPTBN2	https://raresource.nih.gov/literature/disease/0004953	0004953	600224	98766	C0752123		spectrin beta, non-erythrocytic 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 5"	7407
Spinocerebellar ataxia type 8	sca8	ATXN8;ATXN8OS	ATXN8;ATXN8OS	https://raresource.nih.gov/literature/disease/0004956	0004956	608768	98760	C1837454		ataxin 8; ATXN8 opposite strand lncRNA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 8"	93
Sponastrime dysplasia	spondylar and nasal alterations with striated metaphyses//spondylar and nasal alterations-striated metaphyses syndrome//spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia//spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia//spondyloepimetaphyseal dysplasia, sponastrime type	TONSL	TONSL	https://raresource.nih.gov/literature/disease/0004970	0004970	271510	93357	C1300260	C535786	tonsoku like, DNA repair protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sponastrime dysplasia"	21
Spondylocostal dysostosis 3, autosomal recessive	autosomal recessive spondylocostal dysostosis caused by mutation in lfng//lfng autosomal recessive spondylocostal dysostosis//lfng-related spondylocostal dysostosis, autosomal recessive//scdo3	LFNG	LFNG	https://raresource.nih.gov/literature/disease/0004973	0004973	609813		C1853296		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocostal dysostosis 3, autosomal recessive"	None
Spondylocarpotarsal synostosis syndrome	congenital scoliosis with unilateral unsegmented bar//congenital synspondylism//scoliosis, congenital with unilateral unsegmented bar//sct//spondylocarpotarsal syndrome//spondylocarpotarsal synostosis//synspondylism//synspondylism congenital//vertebral fusion with carpal coalition	FLNB	FLNB	https://raresource.nih.gov/literature/disease/0004974	0004974	272460	3275	C1848934	C535780	filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocarpotarsal synostosis syndrome"	1159
Spondylocostal dysostosis 4, autosomal recessive	autosomal recessive spondylocostal dysostosis caused by mutation in hes7//hes7 autosomal recessive spondylocostal dysostosis//hes7-related spondylocostal dysostosis, autosomal recessive//scdo4	HES7	HES7	https://raresource.nih.gov/literature/disease/0004976	0004976	613686		C3150942		hes family bHLH transcription factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocostal dysostosis 4, autosomal recessive"	1
Spondyloenchondrodysplasia with immune dysregulation	combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia//roifman immunoskeletal syndrome//roifman-costa syndrome//roifman-melamed syndrome//spencd//spencdi//spondyloenchondrodysplasia//spondyloenchondrodysplasia with or without immune dysregulation//spondyloenchondromatosis//spondylometaphyseal dysplasia with combined immunodeficiency//spondylometaphyseal dysplasia with enchondromatous changes	ACP5	ACP5	https://raresource.nih.gov/literature/disease/0004978	0004978	607944	1855	C1842763	C564307	acid phosphatase 5, tartrate resistant	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloenchondrodysplasia with immune dysregulation"	67
X-linked spondyloepimetaphyseal dysplasia	spondyloepimetaphyseal dysplasia, x-linked//spondyloepimetaphyseal dysplasia, x-linked, x-linked recessive	BGN	BGN	https://raresource.nih.gov/literature/disease/0004979	0004979	300106	93349	C1848097	C564714	biglycan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked spondyloepimetaphyseal dysplasia"	2
Spondyloepimetaphyseal dysplasia, Shohat type	semd shohat type//semd, shohat type	DDRGK1	DDRGK1	https://raresource.nih.gov/literature/disease/0004980	0004980	602557	93352	C1865185	C566523	DDRGK domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Shohat type"	1
Schimke immuno-osseous dysplasia	immunoosseous dysplasia schimke type//schimke syndrome//siod//spondyloepiphyseal dysplasia - nephrotic syndrome//spondyloepiphyseal dysplasia-nephrotic syndrome	SMARCAL1	SMARCAL1	https://raresource.nih.gov/literature/disease/0004984	0004984	242900	1830	C0877024	C536629	SNF2 related chromatin remodeling annealing helicase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schimke immuno-osseous dysplasia"	141
Spondyloepiphyseal dysplasia tarda, X-linked	sed tarda, x-linked//sedt - spondyloepiphyseal dysplasia tarda//spondyloepiphyseal dysplasia tarda, x-linked recessive	TRAPPC2	TRAPPC2	https://raresource.nih.gov/literature/disease/0004985	0004985	313400		C3541456		trafficking protein particle complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia tarda, X-linked"	None
Spondyloepiphyseal dysplasia congenita	congenital spondyloepiphyseal dysplasia//sed - spondyloepiphyseal dysplasia//sed congenita//sedc//sedc - spondyloepiphyseal dysplasia congenita//spondyloepiphyseal dysplasia congenita group//spondyloepiphyseal dysplasia, congenital//spondyloepiphyseal dysplasia, congenital type//spranger-wiedemann disease	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0004987	0004987	183900	94068	C2745959	C535788	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia congenita"	201
Spondylometaphyseal dysplasia - Sutcliffe type	spondylometaphyseal dysplasia corner fracture type//spondylometaphyseal dysplasia, 'corner fracture' type//sutcliffe smd//sutcliffe type of spondylometaphyseal dysplasia	FN1	FN1	https://raresource.nih.gov/literature/disease/0004991	0004991	184255	93315	C0432221	C535793	fibronectin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia - Sutcliffe type"	2
Spondylometaphyseal dysplasia, Sedaghatian type	lethal metaphyseal dysplasia//metaphyseal chondrodysplasia, congenital lethal//sedaghatian chondrodysplasia	GPX4	GPX4	https://raresource.nih.gov/literature/disease/0004993	0004993	250220	93317	C1855229	C535798	glutathione peroxidase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia, Sedaghatian type"	1
Spondyloperipheral dysplasia	spondyloperipheral dysplasia with short ulna//spondyloperipheral dysplasia-short ulna syndrome	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0004994	0004994	271700	1856	C0796173	C535799	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloperipheral dysplasia"	13
Familial spontaneous pneumothorax	primary spontaneous pneumothorax//psp	FLCN	FLCN	https://raresource.nih.gov/literature/disease/0004997	0004997	173600	2903	C1868193	C566795	folliculin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial spontaneous pneumothorax"	4666
Steatocystoma multiplex	disseminated sebocystomatosis//hereditary epidermal polycystic disease//sebocystomatosis	KRT17	KRT17	https://raresource.nih.gov/literature/disease/0005003	0005003	184500	841	C0259771	D062685	keratin 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Steatocystoma multiplex"	229
Stickler syndrome type 1	arthroophthalmopathy, hereditary progressive//col2a1-associated stickler syndrome//col2a1-related stickler syndrome//stickler syndrome, membranous vitreous type//stickler syndrome, vitreous type 1//stl1	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0005018	0005018	108300	90653	C2020284	C537492	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome type 1"	17
Stickler syndrome type 2	col11a1 stickler syndrome//col11a1-related stickler syndrome//stickler syndrome caused by mutation in col11a1//stickler syndrome type ii//stickler syndrome, beaded vitreous type//stickler syndrome, type ii//stickler syndrome, vitreous type 2//stl2	COL11A1	COL11A1	https://raresource.nih.gov/literature/disease/0005020	0005020	604841	90654	C1858084	C537493	collagen type XI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome type 2"	16
Otospondylomegaepiphyseal dysplasia, autosomal dominant	ad osmed//autosomal dominant otospondylomegaepiphyseal dysplasia//col11a2 stickler syndrome//col11a2-related stickler syndrome//heterozygous osmed//heterozygous otospondylomegaepiphyseal dysplasia//osmed, heterozygous//osmeda//piere-robin syndrome//pierre robin malformation//pierre robin sequence-fetal chondrodysplasia syndrome//pierre robin syndrome with fetal chondrodysplasia//pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type//pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly//pierre robin syndrome with foetal chondrodysplasia//pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type//pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type, formerly//pierre robin syndrome-fetal chondrodysplasia syndrome//stickler syndrome caused by mutation in col11a2//stickler syndrome type 3//stickler syndrome, non-ocular type//stickler syndrome, type 3//stickler syndrome, type iii//stickler syndrome, type iii, formerly//stl3//weissenbacher-zweymuller syndrome//wzs	COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0005021	0005021	184840	166100	C1848488	C535776;C537494	collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otospondylomegaepiphyseal dysplasia, autosomal dominant"	14
Stiff skin syndrome	ssks	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0005025	0005025	184900	2833	C1861456	C566112	fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stiff skin syndrome"	70
Storage pool disease of platelets	alpha delta granule deficiency//alpha dense granule deficiency//combined alpha-delta platelet storage pool deficiency//delta storage pool disease//dense body defect//dense body deficiency//nucleotide storage pool disorder//platelet dense granule deficiency//platelet storage organelle defect//platelet storage pool defect//platelet storage pool deficiency//platelet storage pool diseases//storage pool deficiency//storage pool platelet disease	GFI1B	GFI1B	https://raresource.nih.gov/literature/disease/0005034	0005034	185050	734	C0032197	D010981	growth factor independent 1B transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Storage pool disease of platelets"	4791
Hereditary spastic paraplegia 3A	atl1 hereditary spastic paraplegia//autosomal dominant familial spastic paraplegia 1//autosomal dominant spastic paraplegia 3//autosomal dominant spastic paraplegia type 3//familial spastic paraplegia, autosomal dominant, 1//fsp1//hereditary spastic paraplegia caused by mutation in atl1//hereditary spastic paraplegia type 3a//spastic paraplegia 3, autosomal dominant//spastic paraplegia 3a//spastic paraplegia 3a, autosomal dominant//spg3//spg3a//strumpell disease//strümpell disease	ATL1	ATL1	https://raresource.nih.gov/literature/disease/0005041	0005041	182600	100984	C2931355	C536864	atlastin GTPase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 3A"	22
Stüve-Wiedemann syndrome 1	neonatal schwartz-jampel syndrome//schwartz-jampel syndrome neonatal//schwartz-jampel syndrome type 2//schwartz-jampel syndrome, neonatal//sjs2//stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome//stws//stüve-wiedemann dysplasia//stüve-wiedemann syndrome//stüve-wiedemann/schwartz-jampel type 2 syndrome	LIFR	LIFR	https://raresource.nih.gov/literature/disease/0005045	0005045	601559	3206	C5676888	C537502	LIF receptor subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stüve-Wiedemann syndrome 1"	57
Mitochondrial complex II deficiency, nuclear type 1	isolated mitochondrial respiratory chain complex ii deficiency//isolated succinate dehydrogenase deficiency//isolated succinate-coenzyme q reductase deficiency//isolated succinate-coq reductase deficiency//isolated succinate-ubiquinone reductase deficiency//mitochondrial complex ii deficiency//mitochondrial respiratory chain complex ii deficiency//mitochondrial respiratory chain complex ii deficiency, sdha-related//mitochondrial respiratory chain complex ii deficiency, sdhaf1-related//succinate coq reductase deficiency	SDHA	SDHA	https://raresource.nih.gov/literature/disease/0005053	0005053	252011	3208	C5700310	C565375	succinate dehydrogenase complex flavoprotein subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex II deficiency, nuclear type 1"	15
Multiple sulfatase deficiency	juvenile sulfatidosis, austin type//msd//mucosulfatidosis//multiple sulfatase deficiency disease//sulfatidosis, juvenile, austin type	SUMF1	SUMF1	https://raresource.nih.gov/literature/disease/0005061	0005061	272200	585	C0268263	D052517	sulfatase modifying factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple sulfatase deficiency"	1527
Sulfite oxidase deficiency	isod//isolated sulfite oxidase deficiency//sulfite oxidase deficiency, isolated//sulfocysteinuria	SUOX	SUOX	https://raresource.nih.gov/literature/disease/0005062	0005062	272300	99731	C0268624	C538141	sulfite oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sulfite oxidase deficiency"	1079
Pure gonadal dysgenesis 46,XY	46 xy gonadal dysgenesis//46, xy cgd//46, xy complete gonadal dysgenesis//46, xy pure gonadal dysgenesis//46,xy cgd//46,xy complete gonadal dysgenesis//46,xy gonadal dysgenesis//46,xy pure gonadal dysgenesis//46,xy sex reversal//gonadal dysgenesis, xy female type//swyer syndrome	DHH;MAP3K1;CBX2;SRY;NR5A1;SOX9;DHX37;NR0B1	DHH;MAP3K1;CBX2;SRY;NR5A1;SOX9;DHX37;NR0B1	https://raresource.nih.gov/literature/disease/0005068	0005068		242	C2936694	D006061	desert hedgehog signaling molecule; mitogen-activated protein kinase kinase kinase 1; chromobox 2; sex determining region Y; nuclear receptor subfamily 5 group A member 1; SRY-box transcription factor 9; DEAH-box helicase 37; nuclear receptor subfamily 0 group B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pure gonadal dysgenesis 46,XY"	298
Cenani-Lenz syndactyly syndrome	cenani lenz syndactyly//cenani lenz syndrome//cenani syndactylism//cenani syndactyly//cenani-lenz syndactyly//cenani-lenz syndrome//syndactyly type 7//syndactyly, type vii	LRP4	LRP4	https://raresource.nih.gov/literature/disease/0005084	0005084	212780	3258	C1859309	C538150	LDL receptor related protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cenani-Lenz syndactyly syndrome"	40
Syndactyly type 3	gja1 non-syndromic syndactyly//non-syndromic syndactyly caused by mutation in gja1//ring and little finger syndactyly//sd3//sdty3//syndactyly of fingers 4 and 5//syndactyly of fingers iv and v//syndactyly, type iii	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0005088	0005088	186100	93404	C1861366	C538154	gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly type 3"	6
Syndactyly type 5	postaxial syndactyly with metacarpal synostosis//sd5//syndactyly with associated metacarpal and metatarsal fusion//syndactyly with metacarpal and metatarsal fusion//syndactyly, type v	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0005089	0005089	186300	93406	C1861348	C538155	homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly type 5"	4
Syringocystadenoma papilliferum	fistulous vegetative verrucous hydradenoma//naevus syringocystadenomatosus papilliferus//nevus syringocystadenomatosus papilliferus//papillary syringadenoma//papillary syringadenoma (morphologic abnormality)//papillary syringadenoma (syringocystadenoma papilliferum)//papillary syringocystadenoma//scap//syringadenoma//syringadenoma papilliferum	BRAF	BRAF	https://raresource.nih.gov/literature/disease/0005100	0005100		840	C0406803		B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syringocystadenoma papilliferum"	650
Renal carnitine transport defect	carnitine deficiency//carnitine deficiency, systemic//carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine//carnitine transporter defect//carnitine transporter deficiency//carnitine transporter, plasma-membrane, deficiency of//carnitine uptake defect//carnitine uptake deficiency//cdsp//cud//deficiency of plasma-membrane carnitine transporter//primary carnitine deficiency//spcd//systemic carnitine deficiency//systemic primary carnitine deficiency//systemic primary carnitine deficiency disease	SLC22A5	SLC22A5	https://raresource.nih.gov/literature/disease/0005104	0005104	212140	158	C0342788	C536778	solute carrier family 22 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal carnitine transport defect"	2504
Radial aplasia-thrombocytopenia syndrome	1q21.1 susceptibility locus for thrombocytopenia-absent radius (tar) syndrome//tar//tar - thrombocytopenia with absent radius syndrome//tar syndrome//thrombocytopenia absent radius syndrome//thrombocytopenia with absent radii (tar) syndrome//thrombocytopenia with absent radius syndrome//thrombocytopenia-absent radii syndrome//thrombocytopenia-absent radius syndrome	RBM8A	RBM8A	https://raresource.nih.gov/literature/disease/0005116	0005116	274000	3320	C0175703	C536940	RNA binding motif protein 8A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radial aplasia-thrombocytopenia syndrome"	323
Microcephalic osteodysplastic primordial dwarfism types I and III	microcephalic osteodysplastic primordial dwarfism taybi linder type//microcephalic osteodysplastic primordial dwarfism, taybi-linder type//mopd types i and iii//primordial microcephalic dwarfism crachami type//primordial microcephalic dwarfism, crachami type//taybi linder syndrome//taybi-linder syndrome	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0005120	0005120		2636	C4319565		RNA, U4atac small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic osteodysplastic primordial dwarfism types I and III"	15
Oto-palato-digital syndrome, type I	opd 1 syndrome//opd i syndrome//opd syndrome 1//opd1//oto-palato-digital syndrome type 1//otopalatodigital syndrome type 1//otopalatodigital syndrome, type 1//otopalatodigital syndrome, type i, x-linked dominant//taybi syndrome	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0005121	0005121	311300	90650	C0265251		filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oto-palato-digital syndrome, type I"	18
Frank-Ter Haar syndrome	borrone dermatocardioskeletal syndrome//borrone di rocco crovato syndrome//melnick-needles syndrome, autosomal recessive//ter haar syndrome	SH3PXD2B	SH3PXD2B	https://raresource.nih.gov/literature/disease/0005138	0005138	249420	137834	C1855305	C536577;C537274	SH3 and PX domains 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frank-Ter Haar syndrome"	43
Thiopurine S-methyltransferase deficiency	inborn error of thiopurine s-methyltransferase activity//inborn thiopurine s-methyltransferase activity disorder//poor metabolism of thiopurines-1//rare inborn error of thiopurine s-methyltransferase activity//thiopurine s methyltranferase deficiency//thiopurines, poor metabolism of, 1//tpmt deficiency	TPMT	TPMT	https://raresource.nih.gov/literature/disease/0005173	0005173	610460		C0342801	C536512	thiopurine S-methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thiopurine S-methyltransferase deficiency"	85
Thrombocytopenia 1	thrombocytopenia type 1//thrombocytopenia, x-linked, 1//thrombocytopenia, x-linked, intermittent, x-linked recessive//thrombocytopenia, x-linked, x-linked recessive//x-linked thrombocytopenia with normal platelets	WAS	WAS	https://raresource.nih.gov/literature/disease/0005176	0005176	313900	852	C1839163	C564052	WASP actin nucleation promoting factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 1"	3262
Diffuse nonepidermolytic palmoplantar keratoderma	diffuse palmoplantar keratoderma, bothnian type//krt1-related diffuse nonepidermolytic keratoderma//neppk//non-epidermolytic palmoplantar keratoderma//nonepidermolytic palmoplantar hyperkeratosis//nonepidermolytic palmoplantar keratoderma//palmoplantar keratoderma, nonepidermolytic	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0005186	0005186	600962	530838	C1833030		keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diffuse nonepidermolytic palmoplantar keratoderma"	25
Stormorken syndrome	stormorken-sjaastad-langslet syndrome//strmk//thrombocytopathy, asplenia and miosis//thrombocytopathy, asplenia, and miosis//thrombocytopathy-asplenia-miosis syndrome	STIM1	STIM1	https://raresource.nih.gov/literature/disease/0005188	0005188	185070	3204	C1861451	C566108	stromal interaction molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stormorken syndrome"	50
Thrombocytopenia 2	thc2//thrombocytopenia type 2	ANKRD26	ANKRD26	https://raresource.nih.gov/literature/disease/0005191	0005191	188000		C1861185	C536519	ankyrin repeat domain containing 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 2"	371
Thyroid cancer, nonmedullary, 2	nmtc2//thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation//thyroid cancer, nonmedullary, 2, susceptibility to//thyroid cancer, nonmedullary, type 2//thyroid carcinoma, follicular//thyroid carcinoma, follicular, autosomal dominant, somatic mutation//thyroid carcinoma, follicular, somatic	SRGAP1;NRAS;MINPP1;HRAS	SRGAP1;NRAS;MINPP1;HRAS	https://raresource.nih.gov/literature/disease/0005206	0005206	188470		C4225426	C572845	SLIT-ROBO Rho GTPase activating protein 1; NRAS proto-oncogene, GTPase; multiple inositol-polyphosphate phosphatase 1; HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid cancer, nonmedullary, 2"	None
Hereditary liability to pressure palsies	current pressure-sensitive neuropathy//familial recurrent polyneuropathy//hereditary neuropathy with liability to pressure palsies//heterozygous microdeletion 17p11.2p12//hnpp//neuropathy, recurrent, with pressure palsies//polyneuropathy, familial recurrent//potato-grubbing palsy//tomaculous neuropathy//tulip-bulb digger's palsy	PMP22	PMP22	https://raresource.nih.gov/literature/disease/0005221	0005221	162500	640	C0393814	C536965	peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary liability to pressure palsies"	495
Toriello-Carey syndrome	corpus callosum agenesis facial anomalies robin sequence//corpus callosum agenesis-blepharophimosis-robin sequence syndrome//corpus callosum, agenesis of, with facial anomalies and robin sequence	DDX3X	DDX3X	https://raresource.nih.gov/literature/disease/0005225	0005225	217980	3338	C0796184	C563127	DEAD-box helicase 3 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Toriello-Carey syndrome"	32
Skin fragility-woolly hair-palmoplantar keratoderma syndrome	skin fragility, wooly hair, palmoplantar keratoderma syndrome//skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome	DSP	DSP	https://raresource.nih.gov/literature/disease/0005231	0005231		293165	C4755263	C564359	desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skin fragility-woolly hair-palmoplantar keratoderma syndrome"	None
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia//hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome//mitchell-riley syndrome	RFX6	RFX6	https://raresource.nih.gov/literature/disease/0005237	0005237	615710	293864	C2748662		regulatory factor X6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"	19
Autosomal dominant optic atrophy plus syndrome	adoa plus//doa+//optic atrophy type 8//optic atrophy-deafness-polyneuropathy-myopathy syndrome//optic atrophy-hearing loss-polyneuropathy-myopathy syndrome	OPA1	OPA1	https://raresource.nih.gov/literature/disease/0005243	0005243		1215	CN293505		OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant optic atrophy plus syndrome"	239
Trichohepatoenteric syndrome	fatal infantile diarrhea with trichorrhexis nodosa//intractable diarrhea with phenotypic anomalies//phenotypic diarrhea//phenotypic diarrhea of infancy//phenotypic diarrhoea//sd/the//syndromic diarrhea//syndromic diarrhea/tricho-hepato-enteric syndrome//syndromic diarrhoea//the syndrome//trichohepatoenteric syndrome type 1	SKIC3;SKIC2	SKIC3;SKIC2	https://raresource.nih.gov/literature/disease/0005258	0005258		84064	C1857276		SKI3 subunit of superkiller complex; SKI2 subunit of superkiller complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichohepatoenteric syndrome"	65
Trichoepithelioma, multiple familial, 1	mft1	CYLD	CYLD	https://raresource.nih.gov/literature/disease/0005262	0005262			CN296585		CYLD lysine 63 deubiquitinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichoepithelioma, multiple familial, 1"	2
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	eyelashes long mental retardation//long eyelashes-intellectual disability syndrome//oliver mcfarlane syndrome//oliver-mcfarlane syndrome//omcs//trichomegaly retina pigmentary degeneration dwarfism//trichomegaly with retina pigmentary degeneration and dwarfism syndrome	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0005266	0005266	275400	3363	C1848745	C536554	patatin like domain 6, lysophospholipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"	30
Trichothiodystrophy 1, photosensitive	pibids syndrome//trichothiodystrophy with congenital ichthyosis//ttd1	ERCC2	ERCC2	https://raresource.nih.gov/literature/disease/0005270	0005270	601675		C1866504		ERCC excision repair 2, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 1, photosensitive"	11
Trichothiodystrophy 4, nonphotosensitive	amish brittle hair brain syndrome//bids syndrome//hair-brain syndrome//mplkip nonphotosensitive trichothiodystrophy//nonphotosensitive trichothiodystrophy caused by mutation in mplkip//pollitt syndrome//trichothiodystrophy nonphotosensitive//ttd4	MPLKIP	MPLKIP	https://raresource.nih.gov/literature/disease/0005271	0005271	234050		C1313961		M-phase specific PLK1 interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 4, nonphotosensitive"	12
Baraitser-Winter syndrome	baraitser-winter cerebrofrontofacial syndrome//cerebrooculofacial lymphatic syndrome//cofl syndrome//fryns-aftimos syndrome//fryns-aftimos syndrome (pachygyria, mental retardation, epilepsy, and characteristic facies)	ACTB;ACTG1	ACTB;ACTG1	https://raresource.nih.gov/literature/disease/0005279	0005279		2995	C1853623		actin beta; actin gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Baraitser-Winter syndrome"	81
Triosephosphate isomerase deficiency	hemolytic anaemia due to triosephosphate isomerase deficiency//hemolytic anemia due to triosephosphate isomerase deficiency//tpid	TPI1	TPI1	https://raresource.nih.gov/literature/disease/0005287	0005287	615512	868	C1860808	C566029	triosephosphate isomerase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Triosephosphate isomerase deficiency"	55
Polydactyly of a triphalangeal thumb	polydactyly of triphalangeal thumb//polydactyly, preaxial type 2//polydactyly, preaxial type ii//ppd2//preaxial polydactyly type 2//triphalangeal thumb, type i//triphalangeal thumb-polydactyly syndrome	SHH;LMBR1	SHH;LMBR1	https://raresource.nih.gov/literature/disease/0005289	0005289	174500	93336	C1868114		sonic hedgehog signaling molecule; limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly of a triphalangeal thumb"	6
Troyer syndrome	autosomal recessive spastic paraplegia 20//autosomal recessive spastic paraplegia troyer type//autosomal recessive spastic paraplegia type 20//childhood-onset spastic paraparesis with distal muscle wasting//childhood-onset spastic paraparesis-distal muscle wasting syndrome//hereditary spastic paraplegia 20//spastic paraplegia 20 (troyer syndrome)//spastic paraplegia type 20//spg20	SPART	SPART	https://raresource.nih.gov/literature/disease/0005372	0005372	275900	101000	C0393559	C536858	spartin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Troyer syndrome"	48
UDPglucose-4-epimerase deficiency	epimerase deficiency//epimerase deficiency galactosemia//galactose epimerase deficiency//galactosemia - epimerase deficiency//galactosemia iii//galactosemia type 3//gale (udp-galactose-4-epimerase) deficiency//gale deficiency//gale-d//udp (uridine diphosphate) galactose-4-epimerase deficiency//udp (uridine diphosphate) glucose-4-epimerase deficiency//udp-galactose-4-epimerase deficiency//udpglucose 4-epimerase deficiency disease//uridine diphosphate galactose-4 epimerase deficiency//uridine diphosphate galactose-4-epimerase deficiency//uridine diphosphate glucose-4-epimerase deficiency	GALE	GALE	https://raresource.nih.gov/literature/disease/0005392	0005392	230350	79238	C0751161		UDP-galactose-4-epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UDPglucose-4-epimerase deficiency"	60
Uncombable hair syndrome	pili trianguli et canaliculi//spun glass hair	TGM3;PADI3	TGM3;PADI3	https://raresource.nih.gov/literature/disease/0005404	0005404		1410	C0432347	C536939	transglutaminase 3; peptidyl arginine deiminase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uncombable hair syndrome"	75
Hereditary mucoepithelial dysplasia	hmd//mucoepithelial dysplasia, hereditary//urban-schosser-spohn syndrome	SREBF1	SREBF1	https://raresource.nih.gov/literature/disease/0005427	0005427	158310	1839	C1274795	C536476	sterol regulatory element binding transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary mucoepithelial dysplasia"	401
Hereditary orotic aciduria	oprt and odc deficiency//orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency//orotic aciduria//orotic aciduria i//oroticaciduria//orotidylic decarboxylase deficiency//orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency//ump synthase deficiency//umps deficiency//uridine monophosphate synthase deficiency//uridine monophosphate synthetase deficiency	UMPS	UMPS	https://raresource.nih.gov/literature/disease/0005429	0005429	258900	30	C0220987		uridine monophosphate synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary orotic aciduria"	618
Usher syndrome type 1	retinitis pigmentosa and congenital deafness//us1//ush1	MYO7A;USH1C	MYO7A;USH1C	https://raresource.nih.gov/literature/disease/0005435	0005435		231169	C1568247		myosin VIIA; USH1 protein network component harmonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1"	136
Usher syndrome type 1B	ush1b//usher syndrome type ib	MYO7A	MYO7A	https://raresource.nih.gov/literature/disease/0005436	0005436			C2931206	C536485	myosin VIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1B"	84
Usher syndrome type 1C	ush1c//usher syndrome type i acadian variety//usher syndrome type ic//usher syndrome, type i, acadian variety	USH1C	USH1C	https://raresource.nih.gov/literature/disease/0005437	0005437	276904		C1848604		USH1 protein network component harmonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1C"	24
Usher syndrome type 1D	ush1d//usher syndrome type id//usher syndrome, type 1d/f digenic//usher syndrome, type id	PCDH15;CDH23	PCDH15;CDH23	https://raresource.nih.gov/literature/disease/0005438	0005438	601067		C1832845		protocadherin related 15; cadherin related 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1D"	33
Usher syndrome type 2	ush2//usher syndrome, type ii	USH2A;WHRN;ADGRV1;MYO7A	USH2A;WHRN;ADGRV1;MYO7A	https://raresource.nih.gov/literature/disease/0005440	0005440		231178	C0339534		usherin; whirlin; adhesion G protein-coupled receptor V1; myosin VIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 2"	173
Usher syndrome type 3	retinitis pigmentosa-deafness syndrome type 3//ush3//usher syndrome, type iii	CLRN1;HARS1;CEP78;ARSG;MT-TS2	CLRN1;HARS1;CEP78;ARSG;MT-TS2	https://raresource.nih.gov/literature/disease/0005442	0005442		231183	C1568248		clarin 1; histidyl-tRNA synthetase 1; centrosomal protein 78; arylsulfatase G; mitochondrially encoded tRNA-Ser (AGU/C) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 3"	174
Van Maldergem syndrome	cerebro-facio-articular syndrome//cerebrofacioarticular syndrome	FAT4;DCHS1	FAT4;DCHS1	https://raresource.nih.gov/literature/disease/0005456	0005456		314679	C1832390		FAT atypical cadherin 4; dachsous cadherin-related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van Maldergem syndrome"	19
Congenital bilateral absence of vas deferens	congenital bilateral agenesis of vas deferens//congenital bilateral aplasia of vas deferens	ADGRG2;CFTR	ADGRG2;CFTR	https://raresource.nih.gov/literature/disease/0005461	0005461		48	C1865433		adhesion G protein-coupled receptor G2; CF transmembrane conductance regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bilateral absence of vas deferens"	103
Vein of Galen aneurysmal malformation	aneurysm of the vein of galen//ectasia or varix of the vein of galen//galen vein aneurysm//galenic arteriovenous malformation//median prosencephalic arteriovenous fistula//vein of galen aneurysm//vein of galen aneurysm malformation//vein of galen arteriovenous malformations//vein of galen malformation//vgam	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0005467	0005467		1053	C0431420	C536535	EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vein of Galen aneurysmal malformation"	624
Brachyolmia-amelogenesis imperfecta syndrome	autosomal recessive brachyolmia and amelogenesis imperfecta syndrome//brachyolmia and amelogenesis imperfecta syndrome//dass//dental anomalies and short stature//platyspondyly amelogenesis imperfecta//platyspondyly with amelogenesis imperfecta//platyspondyly-amelogenesis imperfecta syndrome//selective tooth agenesis 5//sthag6//tooth agenesis, selective, 6//verloes bourguignon syndrome//verloes-bourguignon syndrome	LTBP3	LTBP3	https://raresource.nih.gov/literature/disease/0005478	0005478	601216	2899	C1832594		latent transforming growth factor beta binding protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachyolmia-amelogenesis imperfecta syndrome"	71
Congenital vertical talus	charcot-marie-tooth disease, foot deformity of//congenital convex foot//congenital convex pes valgus//congenital rocker-bottom foot//convex pes valgus//cvt - congenital vertical talus//pes valgus, congenital convex//rocker bottom feet//rocker bottom foot//rocker-bottom feet//rocker-bottom foot deformity//rockerbottom feet	HOXD10	HOXD10	https://raresource.nih.gov/literature/disease/0005488	0005488	192950	178382	C0240912	C536345	homeobox D10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital vertical talus"	257
Methylmalonic aciduria, cblA type	cobalamin a disease//cobalamin b disease//maca//methylmalonic acidemia cbla type//methylmalonic acidemia, cbla type//methylmalonic aciduria, vitamin b12-responsive//methylmalonic aciduria, vitamin b12-responsive due to a defect in synthesis of adenosylcobalamin cb1a type//methylmalonic aciduria, vitamin b12-responsive due to a defect in synthesis of adenosylcobalamin cbla type//methylmalonic aciduria, vitamin b12-responsive, cbla type//methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type//mma cbl a type//mmaa-related methylmalonic acidemia//vitamin b12-responsive methylmalonic acidemia type cbla//vitamin b12-responsive methylmalonic aciduria type cbla	MMAA	MMAA	https://raresource.nih.gov/literature/disease/0005500	0005500	251100	79310	C1855109		metabolism of cobalamin associated A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic aciduria, cblA type"	1920
Autosomal dominant vitreoretinochoroidopathy	advirc//autosomal dominant vitreoretinochoroidopathy with nanophthalmos//vitreoretinochoroidopathy//vitreoretinochoroidopathy with microcornea, glaucoma and cataract//vitreoretinochoroidopathy with microcornea, glaucoma, and cataract//vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0005507	0005507	193220	3086	C3888099	C536352	bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant vitreoretinochoroidopathy"	40
Very long chain acyl-CoA dehydrogenase deficiency	acadvld//acyl-coa dehydrogenase, very long-chain deficiency//very long chain acyl coa dehydrogenase deficiency (lcad)//very long chain acyl-coenzyme a dehydrogenase deficiency//very long-chain acyl-coenzyme a dehydrogenase deficiency//vlcad//vlcad - very long chain acyl-coa dehydrogenase deficiency//vlcad deficiency//vlcadd	ACADVL	ACADVL	https://raresource.nih.gov/literature/disease/0005508	0005508	201475	26793	C3887523		acyl-CoA dehydrogenase very long chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Very long chain acyl-CoA dehydrogenase deficiency"	369
Mayer-Rokitansky-Küster-Hauser syndrome type 2	atypical mrkh (mayer rokitansky kuster hauser) syndrome//atypical mrkh syndrome//klippel-feil deformity, conductive deafness, and absent vagina//mayer-rokitansky-kuster-hauser syndrome, type ii//mrkh syndrome type 2//mrkh, type ii//mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome//mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies//mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome//murcs association//müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome	HNF1B;WNT4	HNF1B;WNT4	https://raresource.nih.gov/literature/disease/0005513	0005513	601076	2578	C4305568		HNF1 homeobox B; Wnt family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mayer-Rokitansky-Küster-Hauser syndrome type 2"	20
Waardenburg syndrome type 1	waardenburg syndrome type i//waardenburg syndrome with dystopia canthorum//ws1	PAX3	PAX3	https://raresource.nih.gov/literature/disease/0005519	0005519	193500	894	C1847800		paired box 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 1"	156
Waardenburg syndrome type 2	waardenburg syndrome type ii//ws2	EDNRB;SOX10;MITF;KITLG;SNAI2	EDNRB;SOX10;MITF;KITLG;SNAI2	https://raresource.nih.gov/literature/disease/0005520	0005520		895	C2700265	C536463	endothelin receptor type B; SRY-box transcription factor 10; melanocyte inducing transcription factor; KIT ligand; snail family transcriptional repressor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 2"	153
Waardenburg syndrome type 2A	mitf waardenburg syndrome type 2//waardenburg syndrome type 2 caused by mutation in mitf//waardenburg syndrome type iia//waardenburg syndrome without dystopia canthorum//ws2a	MITF	MITF	https://raresource.nih.gov/literature/disease/0005521	0005521	193510		C1860339	C536464	melanocyte inducing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 2A"	186
Waardenburg syndrome type 3	klein-waardenberg syndrome//klein-waardenberg's syndrome//klein-waardenburg syndrome//waardenburg syndrome type iii//waardenburg syndrome with limb anomalies//waardenburg syndrome with upper limb anomalies//ws3	PAX3	PAX3	https://raresource.nih.gov/literature/disease/0005523	0005523	148820	896	C0079661		paired box 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 3"	26
Waardenburg-Shah syndrome	shah-waardenburg syndrome//waardenburg syndrome type 4//waardenburg syndrome type iv//waardenburg-hirschsprung syndrome//ws4	EDN3;EDNRB;SOX10;MITF	EDN3;EDNRB;SOX10;MITF	https://raresource.nih.gov/literature/disease/0005524	0005524		897	CN296453		endothelin 3; endothelin receptor type B; SRY-box transcription factor 10; melanocyte inducing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg-Shah syndrome"	129
11p partial monosomy syndrome	chromosome 11p13 deletion syndrome//del(11)(p13)//deletion 11p13//monosomy 11p13//wagr//wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome//wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome//wagr 11p13 deletion syndrome//wagr complex//wagr syndrome//wagr syndrome/11p deletion syndrome//wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome//wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome//wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation//wilms tumor-aniridia-genital anomalies-retardation syndrome//wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome//wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome//wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome	PAX6;WT1	PAX6;WT1	https://raresource.nih.gov/literature/disease/0005528	0005528	194072	893	C0206115	D017624	paired box 6; WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=11p partial monosomy syndrome"	224
Warburg micro syndrome	micro syndrome//warbm//warburg-sjo-fledelius syndrome	RAB3GAP2;RAB18;RAB3GAP1;TBC1D20	RAB3GAP2;RAB18;RAB3GAP1;TBC1D20	https://raresource.nih.gov/literature/disease/0005534	0005534		2510	C5442005		RAB3 GTPase activating non-catalytic protein subunit 2; RAB18, member RAS oncogene family; RAB3 GTPase activating protein catalytic subunit 1; TBC1 domain family member 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warburg micro syndrome"	78
Craniosynostosis 2	craniosynostosis boston type//craniosynostosis type 2//craniosynostosis warman type//craniosynostosis, boston type//craniosynostosis, warman type//crs2//msx2-related craniosynostosis//warman mulliken hayward syndrome//warman-mulliken-hayward syndrome	MSX2	MSX2	https://raresource.nih.gov/literature/disease/0005538	0005538	604757	1541	C1858160		msh homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis 2"	13
Acromelic frontonasal dysostosis	acromelic frontonasal dysplasia//afnd//toriello syndrome	ZSWIM6	ZSWIM6	https://raresource.nih.gov/literature/disease/0005539	0005539	603671	1827	C1863616	C566345	zinc finger SWIM-type containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromelic frontonasal dysostosis"	26
Café-au-lait macules with pulmonary stenosis	cafe-au-lait macules with pulmonary stenosis//pulmonic stenosis with cafe-au-lait spots//watson syndrome//wtsn	NF1	NF1	https://raresource.nih.gov/literature/disease/0005540	0005540	193520		C0553586		neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Café-au-lait macules with pulmonary stenosis"	17
Welander distal myopathy	distal myopathy, swedish type//distal myopathy, welander type//gower's muscular dystrophy//muscular dystrophy, distal, late-onset, autosomal dominant//wdm//welander distal myopathy, swedish type	TIA1	TIA1	https://raresource.nih.gov/literature/disease/0005552	0005552	604454	603	C0221054		TIA1 cytotoxic granule associated RNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Welander distal myopathy"	32
Wiedemann-Steiner syndrome	growth deficiency and mental retardation with facial dysmorphism//hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome//hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome//wdsts	KMT2A	KMT2A	https://raresource.nih.gov/literature/disease/0005565	0005565	605130	319182	C1854630	C536704	lysine methyltransferase 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wiedemann-Steiner syndrome"	98
Prader-Willi syndrome	prader labhart willi syndrome//prader-labhart-willi syndrome//prader-willi-labhart syndrome//pws//willi-prader syndrome	HERC2;SNORD116-1;PWRN1;MAGEL2;SNORD115-1;MKRN3;PWAR1;NPAP1;IPW	HERC2;SNORD116-1;PWRN1;MAGEL2;SNORD115-1;MKRN3;PWAR1;NPAP1;IPW	https://raresource.nih.gov/literature/disease/0005575	0005575	176270	739	C0032897	D011218	HECT and RLD domain containing E3 ubiquitin protein ligase 2; small nucleolar RNA, C/D box 116-1; Prader-Willi region non-protein coding RNA 1; MAGE family member L2; small nucleolar RNA, C/D box 115-1; makorin ring finger protein 3; Prader Willi/Angelman region RNA 1; nuclear pore associated protein 1; imprinted in Prader-Willi syndrome	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prader-Willi syndrome"	4804
Drash syndrome	dds//denys drash syndrome//denys-drash syndrome//denys-drash syndrome, autosomal dominant, somatic mutation//nephropathy, wilms tumor, and genital anomalies//nephrotic syndrome type 4//nephrotic syndrome with pseudohermaphroditism//wilms tumor and pseudo- or true hermaphroditism//wilms tumor and pseudohermaphroditism//wilms tumor-disorder of sex development syndrome//wilms tumor-dsd syndrome//wilms tumour and pseudohermaphroditism//wilms' tumor and nephrotic syndrome with pseudohermaphroditism	WT1	WT1	https://raresource.nih.gov/literature/disease/0005576	0005576	194080	220	C0950121	D030321	WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Drash syndrome"	775
Wilson-Turner syndrome	intellectual developmental disorder, x-linked, syndromic, wilson-turner type//intellectual disability, x-linked, syndromic 6//intellectual disability, x-linked, with gynecomastia and obesity//mental retardation, x-linked, syndromic 6//mental retardation, x-linked, with gynecomastia and obesity//mrxs6//wilson-turner syndrome, x-linked recessive//wts//x-linked intellectual disability-gynecomastia-obesity syndrome	LAS1L	LAS1L	https://raresource.nih.gov/literature/disease/0005579	0005579	309585	3459	C1839736	C536708	LAS1 like ribosome biogenesis factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilson-Turner syndrome"	322
Curry-Jones syndrome	agenesis of corpus callosum with polysyndactyly syndrome//corpus callosum agenesis-polysyndactyly syndrome//crjs//curry-jones syndrome, somatic mosaic	SMO	SMO	https://raresource.nih.gov/literature/disease/0005584	0005584	601707	1553	C0795915	C536735	smoothened, frizzled class receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Curry-Jones syndrome"	10
Hypoplastic enamel-onycholysis-hypohidrosis syndrome	ectodermal dysplasia 3, tooth/nail type//ectodermal dysplasia 3, witkop type//hnd//hypodontia and nail dysplasia//hypodontia with nail dysplasia//hypodontia-dysplasia of nails syndrome//hypodontia-nail dysgenesis syndrome//hypodontia-nail dysplasia//nail dysplasia with hypodontia//tns//tooth and nail syndrome//tooth-and-nail syndrome//witkop syndrome//witkop's syndrome//witkop-brearley-gentry syndrome	MSX1	MSX1	https://raresource.nih.gov/literature/disease/0005587	0005587	189500	2228	C0406735	C536736	msh homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoplastic enamel-onycholysis-hypohidrosis syndrome"	1283
Wolcott-Rallison dysplasia	early-onset diabetes mellitus with multiple epiphyseal dysplasia//epiphyseal dysplasia, multiple, with early onset diabetes mellitus//med-iddm syndrome//multiple epiphyseal dysplasia with early-onset diabetes mellitus//wolcott-rallison syndrome//wrs	EIF2AK3	EIF2AK3	https://raresource.nih.gov/literature/disease/0005589	0005589	226980	1667	C0432217	C536739	eukaryotic translation initiation factor 2 alpha kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolcott-Rallison dysplasia"	899
Woodhouse-Sakati syndrome	diabetes, hypogonadism, deafness, intellectual disability syndrome//diabetes-hypogonadism-deafness-intellectual disability syndrome//diabetes-hypogonadism-hearing loss-intellectual disability syndrome//extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia//hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome//hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	DCAF17	DCAF17	https://raresource.nih.gov/literature/disease/0005592	0005592	241080	3464	C0342286	C536742	DDB1 and CUL4 associated factor 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Woodhouse-Sakati syndrome"	53
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	arrhythmogenic cardiomyopathy with woolly hair and keratoderma//carvajal syndrome//dcwhk//dilated cardiomyopathy with woolly hair and keratoderma//dilated cardiomyopathy with wooly hair and keratoderma//keratoderma with woolly hair type ii//keratoderma with wooly hair type ii//kwwh type ii//palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair//palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair//woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome//woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome//wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome//wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome//wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome	DSP	DSP	https://raresource.nih.gov/literature/disease/0005595	0005595	605676	65282	C1854063	C535581	desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	52
Wooly hair	afro-textured hair//familial woolly hair syndrome//familial wooly hair syndrome//hereditary woolly hair syndrome//hereditary wooly hair syndrome//isolated familial woolly hair disorder//isolated familial wooly hair disorder//kinked hair//kinky hair texture//nappy hair texture//woolly hair	KRT71;KRT25;KRT74;LPAR6;LIPH	KRT71;KRT25;KRT74;LPAR6;LIPH	https://raresource.nih.gov/literature/disease/0005597	0005597		170	C0343073	C536745	keratin 71; keratin 25; keratin 74; lysophosphatidic acid receptor 6; lipase H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wooly hair"	138
Severe X-linked intellectual disability, Gustavson type	gustavson syndrome//intellectual developmental disorder with optic atrophy, deafness, and seizures//mrxsg	RBMX	RBMX	https://raresource.nih.gov/literature/disease/0005611	0005611	309555	3078	C0795965	C536759	RNA binding motif protein X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe X-linked intellectual disability, Gustavson type"	559
Intellectual disability, X-linked 63	acsl4 non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked 63//intellectual developmental disorder, x-linked 63, x-linked dominant//intellectual disability, x-linked type 63//mental retardation, x-linked 68//mental retardation, x-linked type 63//non-syndromic x-linked intellectual disability caused by mutation in acsl4//xlid63	ACSL4	ACSL4	https://raresource.nih.gov/literature/disease/0005613	0005613	300387		C1845672	C564522	acyl-CoA synthetase long chain family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 63"	None
Intellectual disability, X-linked, with or without seizures, ARX-related	arx-related intellectual disability//intellectual developmental disorder, x-linked 29//intellectual developmental disorder, x-linked 29, x-linked recessive//mental retardation, x-linked 29//mental retardation, x-linked 32//mental retardation, x-linked 33//mental retardation, x-linked 38//mental retardation, x-linked 43//mental retardation, x-linked 52//mental retardation, x-linked 76//mental retardation, x-linked 87	ARX	ARX	https://raresource.nih.gov/literature/disease/0005614	0005614	300419		C0796244	C563150	aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked, with or without seizures, ARX-related"	None
Syndromic X-linked intellectual disability Snyder type	intellectual developmental disorder, x-linked syndromic, snyder-robinson type, x-linked recessive//intellectual developmental disorder, x-linked, syndromic, snyder-robinson type//intellectual disability, x-linked, snyder-robinson type//mental retardation, x-linked, snyder-robinson type//mrxssr//snyder-robinson intellectual disability syndrome//snyder-robinson mental retardation syndrome//snyder-robinson syndrome//snyder-robinson x-linked mental retardation syndrome//spermine synthase deficiency//srs//x-linked intellectual disability snyder type//x-linked intellectual disability, snyder type//x-linked mental retardation snyder - robinson type	SMS	SMS	https://raresource.nih.gov/literature/disease/0005615	0005615	309583	3063	C0796160	C536678	spermine synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Snyder type"	695
Allan-Herndon-Dudley syndrome	ahds//allan-herndon syndrome//mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency//mct8 deficiency//mct8-specific thyroid hormone cell membrane transporter deficiency//mct8-specific thyroid hormone cell transporter deficiency//mct8-specific thyroid hormone cell-membrane transporter deficiency//mental retardation and muscular atrophy//monocarboxylate transporter 8 deficiency//passos-bueno syndrome//t3 resistance//triiodothyronine resistance//x-linked intellectual disability-hypotonia syndrome	SLC16A2	SLC16A2	https://raresource.nih.gov/literature/disease/0005617	0005617	300523	59	C0795889	C537047	solute carrier family 16 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Allan-Herndon-Dudley syndrome"	284
X-linked severe combined immunodeficiency	immunodeficiency 4//scid, x-linked//scid-x1//scidx1//severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative//severe combined immunodeficiency, x-linked, x-linked recessive//t-b+ scid due to gamma chain deficiency//t-b+ severe combined immunodeficiency due to gamma chain deficiency//t-b+ severe combined immunodeficiency, x-linked//thymic epithelial hypoplasia//x-linked combined immunodeficiency diseases//xscid	IL2RG	IL2RG	https://raresource.nih.gov/literature/disease/0005618	0005618	300400	276	C1279481	D053632	interleukin 2 receptor subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked severe combined immunodeficiency"	456
Xanthinuria type II	xan2//xanthine dehydrogenase and aldehyde oxidase combined deficiency of//xanthine dehydrogenase and aldehyde oxidase, combined deficiency of//xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency//xdh and aox dual deficiency	MOCOS	MOCOS	https://raresource.nih.gov/literature/disease/0005620	0005620	603592	93602	C1863688	C566358	molybdenum cofactor sulfurase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xanthinuria type II"	7
Hereditary xanthinuria type 1	deficiency of hypoxanthine oxidase//deficiency of xanthine oxidase//isolated xanthine oxidase deficiency//xan1//xanthine oxidase deficiency//xanthine oxidoreductase deficiency//xanthinuria type 1//xanthinuria type i//xanthinuria, type 1//xanthinuria, type i//xdh deficiency//xo deficiency//xor deficiency	XDH	XDH	https://raresource.nih.gov/literature/disease/0005621	0005621	278300	93601	C0268118	C562584	xanthine dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary xanthinuria type 1"	10628
Cholestanol storage disease	cerebral cholesterinosis//cerebrotendinous cholesterinosis//cerebrotendinous xanthomatosis//cholestanolosis//ctx//ctx - cerebrotendinous xanthomatosis//ctx: cerebrotendinous xanthomatosis//sterol 27-hydroxylase deficiency//van bogaert-scherer-epstein disease//van bogaert-scherer-epstein syndrome	CYP27A1	CYP27A1	https://raresource.nih.gov/literature/disease/0005622	0005622	213700	909	C0238052	D019294	cytochrome P450 family 27 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestanol storage disease"	883
Xerocytosis	dehydrated hereditary stomatocytosis//dessicocytosis//hereditary xerocytosis	KCNN4;SLC4A1;PIEZO1	KCNN4;SLC4A1;PIEZO1	https://raresource.nih.gov/literature/disease/0005623	0005623		3202	C0272051		potassium calcium-activated channel subfamily N member 4; solute carrier family 4 member 1 (Diego blood group); piezo type mechanosensitive ion channel component 1 (Er blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xerocytosis"	183
Xeroderma pigmentosum group A	xeroderma pigmentosum 1//xeroderma pigmentosum caused by mutation in xpa//xeroderma pigmentosum complementation group a//xeroderma pigmentosum group type a//xeroderma pigmentosum, complementation group a//xeroderma pigmentosum, complementation group type a//xp group a//xp, group a//xp-a//xp1//xpa//xpa xeroderma pigmentosum	XPA	XPA	https://raresource.nih.gov/literature/disease/0005624	0005624	278700		C0268135		XPA, DNA damage recognition and repair factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum group A"	146
Xeroderma pigmentosum group B	ercc3 xeroderma pigmentosum//ercc3-related xeroderma pigmentosum//xeroderma pigmentosum b/cockayne syndrome//xeroderma pigmentosum caused by mutation in ercc3//xeroderma pigmentosum group type b//xeroderma pigmentosum, complementation group type b//xp group b//xp, group b//xp-b//xpb//xpb/cs//xpbc	ERCC3	ERCC3	https://raresource.nih.gov/literature/disease/0005625	0005625	610651		C0268136	C562590	ERCC excision repair 3, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum group B"	1285
Xeroderma pigmentosum, group C	xeroderma pigmentosum group type c//xeroderma pigmentosum iii//xeroderma pigmentosum, complementation group c//xeroderma pigmentosum, complementation group type c//xp group c//xp, group c//xp-c//xp3//xpc//xpc-related xeroderma pigmentosum//xpcc	XPC	XPC	https://raresource.nih.gov/literature/disease/0005626	0005626	278720		C2752147	C567886	XPC complex subunit, DNA damage recognition and repair factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum, group C"	112
Xeroderma pigmentosum, group E	ddb2-related xeroderma pigmentosum//xeroderma pigmentosum group type e//xeroderma pigmentosum v//xeroderma pigmentosum, complementation group e//xeroderma pigmentosum, complementation group e, ddb-negative form//xeroderma pigmentosum, complementation group type e//xeroderma pigmentosum, group e, ddb-negative subtype//xp group e//xp, group e//xp-e//xp5//xpe	DDB2	DDB2	https://raresource.nih.gov/literature/disease/0005627	0005627	278740		C1848411	C564732	damage specific DNA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum, group E"	44
Xeroderma pigmentosum, group F	ercc4 xeroderma pigmentosum//ercc4-related xeroderma pigmentosum//xeroderma pigmentosum caused by mutation in ercc4//xeroderma pigmentosum group type f//xeroderma pigmentosum vi//xeroderma pigmentosum, complementation group f//xeroderma pigmentosum, complementation group type f//xeroderma pigmentosum, type 6//xeroderma pigmentosum, type f//xp group f//xp, group f//xp-f//xp6//xpf	ERCC4	ERCC4	https://raresource.nih.gov/literature/disease/0005628	0005628	278760		C0268140	C562592	ERCC excision repair 4, endonuclease catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum, group F"	34
Xeroderma pigmentosum, group G	ercc5 xeroderma pigmentosum//ercc5-related xeroderma pigmentosum//xeroderma pigmentosum caused by mutation in ercc5//xeroderma pigmentosum group type g//xeroderma pigmentosum type 7//xeroderma pigmentosum vii//xeroderma pigmentosum, complementation group type g//xeroderma pigmentosum, group g/cockayne syndrome//xp group g//xp, group g//xp-g//xp7//xpg	ERCC5	ERCC5	https://raresource.nih.gov/literature/disease/0005629	0005629	278780		C0268141	C562593	ERCC excision repair 5, endonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum, group G"	35
Xeroderma pigmentosum variant type	photosensitivity with defective dna synthesis//polh-related xeroderma pigmentosum//xeroderma pigmentosum variant//xeroderma pigmentosum with normal dna repair rates//xpv	POLH	POLH	https://raresource.nih.gov/literature/disease/0005630	0005630	278750	90342	C1848410	C536766	DNA polymerase eta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum variant type"	868
Dentatorubral-pallidoluysian atrophy	ataxia, chorea, seizures, and dementia//dentatorubral-pallidoluysian atrophy (drpla)//dentatorubropallidoluysian atrophy//dentatorubropallidoluysian degeneration//drpla//drpla - dentatorubropallidoluysian atrophy//haw river syndrome//myoclonic epilepsy with choreoathetosis//naito oyanagi disease//naito-oyanagi disease	ATN1	ATN1	https://raresource.nih.gov/literature/disease/0005643	0005643	125370	101	C0751781		atrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentatorubral-pallidoluysian atrophy"	636
Dilated cardiomyopathy 1E	cardiomyopathy dilated with conduction defect type 2//cardiomyopathy, dilated, 1e//cardiomyopathy, dilated, type 1e//cardiomyopathy, dilated, with conduction defect 2//cardiomyopathy, dilated, with conduction disorder and arrhythmia//cdcd2//cmd1e//dilated cardiomyopathy type 1e//dilated cardiomyopathy with conduction defect 2//dilated cardiomyopathy with conduction disorder and arrhythmia//familial isolated dilated cardiomyopathy caused by mutation in scn5a//scn5a familial isolated dilated cardiomyopathy//scn5a-associated dilated cardiomyopathy//scn5a-related dilated cardiomyopathy	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0005644	0005644	601154		C1832680	C563384	sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1E"	1175
Gliosarcoma	glioblastoma with a sarcomatous component//glioblastoma with sarcomatous component	LZTR1	LZTR1	https://raresource.nih.gov/literature/disease/0005653	0005653		251576	C0206726	D018316	leucine zipper like post translational regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gliosarcoma"	755
Alveolar soft part sarcoma	adult alveolar soft part sarcoma//adult alveolar soft-part sarcoma//alveolar soft part sarcoma (disease)//alveolar soft tissue sarcoma//asps	ASPSCR1	ASPSCR1	https://raresource.nih.gov/literature/disease/0005654	0005654	606243	163699	C0206657	D018234	ASPSCR1 tether for SLC2A4, UBX domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alveolar soft part sarcoma"	1538
Deficiency of steroid 11-beta-monooxygenase	11-beta-hydroxylase deficiency//11-beta-hydroxylase-deficient congenital adrenal hyperplasia//adrenal hyperplasia iv//adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency//adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency//adrenogenital disorder due to 11-beta-hydroxylase deficiency//cah - 11 beta-hydroxylase deficiency//cah due to 11-beta-hydroxylase deficiency//congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency//congenital adrenal hyperplasia, type 3//cyp11b1//cyp11b1 deficiency//deficiency of steroid 11-beta-hydroxylase//hypertensive congenital adrenal hyperplasia//p450c11b1 deficiency//steroid 11-beta-hydroxylase deficiency//steroid 11-beta-monooxygenase deficiency	CYP11B1	CYP11B1	https://raresource.nih.gov/literature/disease/0005658	0005658	202010	90795	C0268292	C535978	cytochrome P450 family 11 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of steroid 11-beta-monooxygenase"	176
Testosterone 17-beta-dehydrogenase deficiency	17 alpha ketosteroid reductase deficiency of testis//17 alpha ksr deficiency//17 beta hsd3 deficiency//17-beta hydroxysteroid dehydrogenase 3 deficiency//17-beta hydroxysteroid dehydrogenase iii deficiency//17-beta-hydroxysteroid dehydrogenase 3 deficiency//17-ketoreductase deficiency//17-ketosteroid reductase deficiency//17-ketosteroidreductase deficiency//17-ksr deficiency//17b-hsd deficiency//46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency//male pseudoherma-phroditism with gynecomastia//male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency//neutral 17 beta hydroxysteroid oxidoreductase deficiency//neutral 17-beta-hydroxysteroid oxidoreductase deficiency//pseudohermaphroditism male with gynecomastia	HSD17B3	HSD17B3	https://raresource.nih.gov/literature/disease/0005659	0005659	264300	752	C0268296	C537805;C564868	hydroxysteroid 17-beta dehydrogenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Testosterone 17-beta-dehydrogenase deficiency"	34
Corticosterone 18-monooxygenase deficiency	18 alpha hydroxylase deficiency//18 hydroxylase deficiency//18-hydroxycorticosterone dehydrogenase deficiency//18-hydroxylase deficiency//aldosterone deficiency 1//aldosterone deficiency due to 18-hydroxylase defect//aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency//aldosterone deficiency due to defect in 18 hydroxylase//aldosterone deficiency due to defect in steroid 18-hydroxylase//aldosterone deficiency i//cah - 18-hydroxylase deficiency//cmo 1 deficiency//cmo i deficiency//corticosterone methyl oxidase type i deficiency//corticosterone methyloxidase type 1 deficiency//hypoaldosteronism, congenital, due to cmo i deficiency//steroid 18-hydroxylase deficiency	CYP11B2	CYP11B2	https://raresource.nih.gov/literature/disease/0005660	0005660	203400		C0268293		cytochrome P450 family 11 subfamily B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corticosterone 18-monooxygenase deficiency"	13
D-2-hydroxyglutaric aciduria	d-2(oh) glutaric aciduria//d-2-hga//d-2-hydroxyglutaric acidemia//d-2-hydroxyglutaric aciduria type 1	D2HGDH;IDH2	D2HGDH;IDH2	https://raresource.nih.gov/literature/disease/0005661	0005661		79315	C1833429		D-2-hydroxyglutarate dehydrogenase; isocitrate dehydrogenase (NADP(+)) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D-2-hydroxyglutaric aciduria"	80
3-Methylglutaconic aciduria type 3	3-methylglutaconic aciduria caused by mutation in opa3//3-methylglutaconic aciduria type iii//autosomal recessive optic atrophy plus syndrome//autosomal recessive optic atrophy type 3//costeff optic atrophy syndrome//costeff syndrome//infantile optic atrophy with chorea and spastic paraplegia//iraqi-jewish optic atrophy plus//mga3//mgca3//opa3 3-methylglutaconic aciduria//opa3, autosomal recessive//opa3-related 3-methylglutaconic aciduria//optic atrophy 3, autosomal recessive	OPA3	OPA3	https://raresource.nih.gov/literature/disease/0005663	0005663	258501	67047	C0574084	C535311	outer mitochondrial membrane lipid metabolism regulator OPA3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-Methylglutaconic aciduria type 3"	28
3-methylcrotonyl-CoA carboxylase 1 deficiency	3 alpha methylcrotonylglycinuria 1//3-methylcrotonyl-coa carboxylase deficiency caused by mutation in mccc1//mcc 1 deficiency//mcc1d//mccc1 3-methylcrotonyl-coa carboxylase deficiency//mccc1-related 3-methylcrotonyl-coa carboxylase deficiency//mccd type 1//methylcrotonylglycinuria type i	MCCC1	MCCC1	https://raresource.nih.gov/literature/disease/0005665	0005665	210200		C0268600	C535308	methylcrotonyl-CoA carboxylase subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylcrotonyl-CoA carboxylase 1 deficiency"	1
Ritscher-Schinzel syndrome	3c syndrome//ccc dysplasia//cranio-cerebello-cardiac dysplasia syndrome//craniocerebellocardiac dysplasia//rtsc1	DPYSL5;CCDC22;VPS35L;WASHC5	DPYSL5;CCDC22;VPS35L;WASHC5	https://raresource.nih.gov/literature/disease/0005666	0005666		7	C0796137	C535313	dihydropyrimidinase like 5; CCC complex scaffolding subunit CCDC22; VPS35 endosomal protein sorting factor like; WASH complex subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ritscher-Schinzel syndrome"	46
3-M syndrome	3-msbn//dolichospondylic dysplasia//gloomy face syndrome//le merrer syndrome//miller-mckusick-malvaux syndrome//three m syndrome//three-m slender-boned nanism//yakut short stature syndrome	OBSL1;CUL7;CCDC8	OBSL1;CUL7;CCDC8	https://raresource.nih.gov/literature/disease/0005667	0005667		2616	C1848862	C535314	obscurin like cytoskeletal adaptor 1; cullin 7; coiled-coil domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-M syndrome"	64
Hawkinsinuria	4-alpha-hydroxyphenylpyruvate hydroxylase deficiency//4-hppd deficiency//4-hydroxyphenylpyruvic acid dioxygenase deficiency//hawkinsin high in urine//hpd-gene related hawkinsinuria	HPD	HPD	https://raresource.nih.gov/literature/disease/0005668	0005668	140350	2118	C2931042	C535845	4-hydroxyphenylpyruvate dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hawkinsinuria"	20
46 XX gonadal dysgenesis	46,xx complete gonadal dysgenesis//46,xx ovarian dysgenesis//46,xx pure gonadal dysgenesis//follicular stimulating hormone-resistant ovaries//fsh-ro//hypergonadotropic ovarian dysgenesis//ovarian dysgenesis with normal chromosomes//pure gonadal dysgenesis 46,xx//xx female gonadal dysgenesis//xx-gd	ZSWIM7;NUP107;BNC1;POLR3H;PSMC3IP;BMP15;SPIDR;NR5A1;MSH4;FIGLA;FSHR;MRPS22	ZSWIM7;NUP107;BNC1;POLR3H;PSMC3IP;BMP15;SPIDR;NR5A1;MSH4;FIGLA;FSHR;MRPS22	https://raresource.nih.gov/literature/disease/0005671	0005671		243	C0685837	D023961	zinc finger SWIM-type containing 7; nucleoporin 107; basonuclin zinc finger protein 1; RNA polymerase III subunit H; PSMC3 interacting protein; bone morphogenetic protein 15; scaffold protein involved in DNA repair; nuclear receptor subfamily 5 group A member 1; mutS homolog 4; folliculogenesis specific bHLH transcription factor; follicle stimulating hormone receptor; mitochondrial ribosomal protein S22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46 XX gonadal dysgenesis"	24
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency//46,xy dsd due to 5-alpha-reductase 2 deficiency//5 alpha steroid reductase 2 deficiency//familial incomplete male pseudohermaphroditism type 2//familial incomplete male pseudohermaphroditism, type 2//male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency//male pseudohermaphroditism due to 5-alpha-reductase deficiency//ppsh//ppsh - pseudovaginal perineoscrotal hypospadias//pseudovaginal perineoscrotal hypospadias//steroid 5-alpha-reductase 2 deficiency//steroid 5-alpha-reductase deficiency	SRD5A2	SRD5A2	https://raresource.nih.gov/literature/disease/0005680	0005680	264600	753	C0268297	C535830	steroid 5 alpha-reductase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency"	53
5-Oxoprolinase deficiency	5-oxoprolinase deficiency (disease)//5-oxoprolinuria due to 5-oxoprolinase deficiency//inborn 5-oxoprolinase (atp-hydrolyzing) activity disorder//inborn error of 5-oxoprolinase (atp-hydrolyzing) activity//oplahd//oxoprolinuria due to oxoprolinase deficiency//pyroglutamate hydrolase deficiency//rare inborn error of 5-oxoprolinase (atp-hydrolyzing) activity//reduced 5-oxoprolinase level//reduced circulating 5-oxoprolinase activity	OPLAH	OPLAH	https://raresource.nih.gov/literature/disease/0005681	0005681	260005	33572	C0268525	C535322	5-oxoprolinase, ATP-hydrolysing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=5-Oxoprolinase deficiency"	17
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	6-pyruvoyl tetrahydropterin synthase deficiency//6-pyruvoyl-tetrahydropterin synthase deficiency//6-pyruvoyltetrahydropterin synthase deficiency//6pts - 6-pyruvoyl-tetrahydrobiopterin synthase deficiency//bh4-deficient hyperphenylalaninemia a//bh4-deficient hyperphenylalaninemia type a//hpabh4a//hyperphenylalanemia, bh4-deficient, a//hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency//hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency//hyperphenylalaninemia, bh4-deficient a//hyperphenylalaninemia, bh4-deficient, type a//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency//pts deficiency//tetrahydobioperin-deficient hyperphenylalaninemia due to pts deficiency	PTS	PTS	https://raresource.nih.gov/literature/disease/0005682	0005682	261640	13	C0878676	C535325	6-pyruvoyltetrahydropterin synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=6-Pyruvoyl-tetrahydrobiopterin synthase deficiency"	60
Smith-Lemli-Opitz syndrome	7-dehydrocholesterol reductase deficiency//lethal acrodysgenital syndrome//polydactyly, sex reversal, renal hypoplasia, and unilobar lung//rsh syndrome//rutledge lethal multiple congenital anomaly syndrome//slo syndrome//slos//smith-opitz-inborn syndrome	DHCR7	DHCR7	https://raresource.nih.gov/literature/disease/0005683	0005683	270400	818	C0175694	D019082	7-dehydrocholesterol reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-Lemli-Opitz syndrome"	829
Glycogen storage disease, type VII	glycogen storage disease caused by mutation in pfkm//glycogen storage disease due to muscle phosphofructokinase deficiency//glycogen storage disease type 7//glycogen storage disease vii//glycogen storage disease, type 7//glycogenosis due to muscle phosphofructokinase deficiency//glycogenosis type 7//glycogenosis type vii//gsd due to muscle phosphofructokinase deficiency//gsd type 7//gsd type vii//gsd vii//gsd7//gsdvii//muscle phosphofructokinase deficiency//pfkm deficiency//pfkm glycogen storage disease//phosphofructokinase deficiency//phosphofructokinase myopathy//tarui disease//tarui's disease	PFKM	PFKM	https://raresource.nih.gov/literature/disease/0005686	0005686	232800	371	C0017926	D006014	phosphofructokinase, muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease, type VII"	149
Temtamy syndrome	craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome//craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome//mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum//temtamy shalash syndrome//temtamy-shalash syndrome//temtys	C12orf57	C12orf57	https://raresource.nih.gov/literature/disease/0005688	0005688	218340	1777	C1857512	C536959	chromosome 12 open reading frame 57	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Temtamy syndrome"	10
Rapp-Hodgkin syndrome	anhidrotic ectodermal dysplasia with cleft lip/palate//ectodermal dysplasia, anhidrotic, with cleft lip/palate//isolated cleft lip/cleft palate (orofacial cleft 8)//rapp-hodgkin ectodermal dysplasia syndrome//rapp-hodgkin type of ectodermal dysplasia//rhs	TP63	TP63	https://raresource.nih.gov/literature/disease/0005690	0005690	129400		C1785148	C535289	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rapp-Hodgkin syndrome"	342
Phytanic acid storage disease	adult refsum disease//adult refsum disease due to phyh//classic refsum disease//hereditary motor and sensory neuropathy 4//hereditary motor and sensory neuropathy type 4//hereditary motor and sensory neuropathy type iv//hereditary motor and sensory neuropathy, type iv//hereditary sensory and motor neuropathy type 4//hereditary sensory-motor neuropathy, type iv//heredoataxia hemeralopica polyneuritiformis//heredoataxic atactica polyneuritiformis//heredoataxic hemeralopica polyneuritiformis//heredopathia atactica polyneuritiformis//hmsn 4//hmsn iv//hmsn type iv//hsmn iv//hypertrophic neuropathy of refsum//pex7-related refsum disease//phyh-related refsum disease//phytanic acid oxidase deficiency//phytanic-coa hydroxylase deficiency//refsum disease//refsum disease, adult, 1//refsum disease, classic//refsum syndrome//refsum's disease//refsum-thiebaut disease//refsum-thiébaut disease	PHYH;PEX7	PHYH;PEX7	https://raresource.nih.gov/literature/disease/0005691	0005691	266500	773	C0034960	D012035	phytanoyl-CoA 2-hydroxylase; peroxisomal biogenesis factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phytanic acid storage disease"	484
Partial androgen insensitivity syndrome	androgen insensitivity, partial//androgen insensitivity, partial, with or without breast cancer//androgen insensitivity, partial, with or without breast cancer, x-linked recessive//androgen resistance syndrome, partial//familial incomplete male pseudohermaphroditism type 1//familial incomplete male pseudohermaphroditism, type 1//gynecomastia, familial//pais//pais - partial androgen insensitivity syndrome//partial androgen resistance syndrome//pseudohermaphroditism, incomplete male, type i//reifenstein syndrome//reifenstein syndrome, partial//type i familial incomplete male pseudohermaphroditism	AR	AR	https://raresource.nih.gov/literature/disease/0005692	0005692	312300	90797	C0268301	C538435	androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial androgen insensitivity syndrome"	100
Retinitis pigmentosa	rp//rp - retinitis pigmentosa//tapetoretinal degeneration	ARL6;RBP3;AIPL1;CFAP418;CNGA1;CRX;CLRN1;PDE6G;LRAT;ROM1	ARL6;RBP3;AIPL1;CFAP418;CNGA1;CRX;CLRN1;PDE6G;LRAT;ROM1	https://raresource.nih.gov/literature/disease/0005694	0005694	268000	791	C0035334	D012174	ARF like GTPase 6; retinol binding protein 3; AIP like 1 HSP90 co-chaperone; cilia and flagella associated protein 418; cyclic nucleotide gated channel subunit alpha 1; cone-rod homeobox; clarin 1; phosphodiesterase 6G; lecithin retinol acyltransferase; retinal outer segment membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa"	12138
Rett syndrome	autism, dementia, ataxia, and loss of purposeful hand use//cerebroatrophic hyperammonemia//classic rett syndrome//rett disorder//rett syndrome, atypical, x-linked dominant//rett syndrome, preserved speech variant, x-linked dominant//rett syndrome, x-linked dominant//rett's disorder//rett’s disease//rts//rts - rett syndrome//rtt	MECP2	MECP2	https://raresource.nih.gov/literature/disease/0005696	0005696	312750	778	C0035372	D015518	methyl-CpG binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rett syndrome"	4671
Axenfeld-Rieger syndrome	anomaly, rieger's//ars//axenfeld syndrome//axenfeldt-rieger syndrome//rgs - rieger syndrome//rieger syndrome//rieger's anomaly	FOXC1;PITX2	FOXC1;PITX2	https://raresource.nih.gov/literature/disease/0005701	0005701		782	C3495488	C535679	forkhead box C1; paired like homeodomain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Axenfeld-Rieger syndrome"	1121
Idiopathic achalasia	achalasia cardia//idiopathic achalasia of esophagus//idiopathic achalasia of oesophagus//primary achalasia	CRLF1;NOS1	CRLF1;NOS1	https://raresource.nih.gov/literature/disease/0005708	0005708		930	C0859976		cytokine receptor like factor 1; nitric oxide synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic achalasia"	556
Glycogen storage disease, type II	acid alpha-glucosidase deficiency, infantile-onset//acid maltase deficiency//acid maltase deficiency disease//acid maltase deficiency, infantile-onset//aglucosidase alfa//alpha-1,4-glucosidase acid deficiency//cardiomegalia glycogenica diffusa//deficiency of alpha-glucosidase//deficiency of glucoamylase//deficiency of lysosomal alpha-glucosidase//deficiency of maltase//gaa deficiency, infantile-onset//gaa glycogen storage disease//generalised glycogenosis//generalized glycogenosis//glucosidase acid-1,4-alpha deficiency//glycogen heart disease//glycogen storage disease caused by mutation in gaa//glycogen storage disease due to acid maltase deficiency//glycogen storage disease ii//glycogen storage disease ii, infantile-onset//glycogen storage disease type 2//glycogen storage disease type ii (pompe disease)//glycogenosis due to acid maltase deficiency//glycogenosis type 2//glycogenosis type ii//glycogenosis, generalized, cardiac form//glycogenosis, type 2//gsd due to acid maltase deficiency//gsd ii//gsd type 2//gsd type ii//iopd//lysosomal alpha-1,4-glucosidase deficiency//pompe disease//pompe disease, infantile-onset//pompe's disease	GAA	GAA	https://raresource.nih.gov/literature/disease/0005714	0005714	232300	365	C0017921	D006009	alpha glucosidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease, type II"	2739
Acrocallosal syndrome	absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly//acls//acs//hallux duplication, postaxial polydactyly, and absence of corpus callosum//kif7-related joubert syndrome//schinzel acrocallosal syndrome//schinzel syndrome 1	KIF7	KIF7	https://raresource.nih.gov/literature/disease/0005721	0005721	200990	36	C0796147	D055673	kinesin family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrocallosal syndrome"	20081
Hereditary acrodermatitis enteropathica	acrodermatitis enteropathica//acrodermatitis enteropathica, zinc deficiency type//ae - acrodermatitis enteropathica//aez//brandt syndrome//danbolt-close syndrome//danbolt-closs syndrome//hereditary acrodermatitis enterohepatica//inherited zinc deficiency//primary zinc malabsorption//primary zinc malabsorption syndrome	SLC39A4	SLC39A4	https://raresource.nih.gov/literature/disease/0005723	0005723	201100	37	C0221036	C538178	solute carrier family 39 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary acrodermatitis enteropathica"	810
Acrodysostosis	acrodysplasia//arkless-graham syndrome//maroteaux-malamut syndrome	PDE4D;PRKAR1A	PDE4D;PRKAR1A	https://raresource.nih.gov/literature/disease/0005724	0005724		950	C0220659	C538179	phosphodiesterase 4D; protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrodysostosis"	112
Congenital isolated adrenocorticotropic hormone deficiency	acth deficiency//acth deficiency, isolated//adrenocorticotropic hormone (acth) deficiency//adrenocorticotropic hormone deficiency//congenital isolated acth deficiency//congenital isolated adrenocorticotropic hormone deficiency (disease)//corticotropin deficiency//secondary hypoadrenalism	TBX19	TBX19	https://raresource.nih.gov/literature/disease/0005727	0005727	201400	199296	C0342388	C535668	T-box transcription factor 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital isolated adrenocorticotropic hormone deficiency"	745
Acute intermittent porphyria	acute porphyria//aip//aip - acute intermittent porphyria//hmbs deficiency//hydroxymethylbilane synthase deficiency//intermittent acute porphyria//intermittent acute porphyria syndrome//pbgd deficiency//porphobilinogen deaminase deficiency//porphyria intermittent acute//porphyria, swedish type//pyrroloporphyria//swedish porphyria//ups deficiency//uroporphyrinogen synthase deficiency	HMBS	HMBS	https://raresource.nih.gov/literature/disease/0005732	0005732	176000	79276	C0162565	D017118	hydroxymethylbilane synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute intermittent porphyria"	3998
Adams-Oliver syndrome	aos//congenital absence of skin on scalp with limb-reduction anomaly//congenital scalp defects with distal limb anomalies//congenital scalp defects with distal limb reduction anomalies//limb, scalp and skull defects//type 2 aplasia cutis	ARHGAP31;DLL4;NOTCH1;DOCK6;EOGT;RBPJ	ARHGAP31;DLL4;NOTCH1;DOCK6;EOGT;RBPJ	https://raresource.nih.gov/literature/disease/0005739	0005739		974	C0265268	C538225	Rho GTPase activating protein 31; delta like canonical Notch ligand 4; notch receptor 1; dedicator of cytokinesis 6; EGF domain specific O-linked N-acetylglucosamine transferase; recombination signal binding protein for immunoglobulin kappa J region	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome"	642
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	ada//ada deficiency//ada-scid//adenosine deaminase deficiency//adenosine deaminase deficiency, partial, autosomal recessive, somatic mosaicism//adenosine deaminase deficient severe combined immunodeficiency//adenosine deaminase-deficient severe combined immunodeficiency disease (scid)//scid due to ada deficiency//scid due to ada deficiency, early-onset//scid due to adenosine deaminase deficiency//severe combined immunodeficiency due to ada deficiency//severe combined immunodeficiency due to ada deficiency, autosomal recessive, somatic mosaicism//severe combined immunodeficiency due to adenosine deaminase deficiency	ADA	ADA	https://raresource.nih.gov/literature/disease/0005748	0005748	102700	277	C1863236	C531816	adenosine deaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	889
Adrenoleukodystrophy	abcd1 deficiency//addison disease and cerebral sclerosis//adrenoleukodystrophy, x-linked//adrenoleukodystrophy, x-linked recessive//adrenomyeloneuropathy, adult//adrenomyeloneuropathy, adult, x-linked recessive//ald//ald - adrenoleukodystrophy//bronze schilder disease//bronze-schilder disease//diffuse cerebral sclerosis of schilder//encephalitis periaxialis concentrica//encephalitis periaxialis, schilder's//melanodermic leukodystrophy//schilder-addison complex//siemerling-creutzfeldt disease//sudanophilic cerebral sclerosis//x-ald//x-linked adrenoleukodystrophy//x-linked ald	ABCD1	ABCD1	https://raresource.nih.gov/literature/disease/0005758	0005758	300100	43	C0162309	D000326	ATP binding cassette subfamily D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adrenoleukodystrophy"	6314
Congenital afibrinogenemia	congenital hypofibrinogenemia//familial afibrinogenemia//fibrinogen deficiency	FGB;FGG;FGA	FGB;FGG;FGA	https://raresource.nih.gov/literature/disease/0005761	0005761	202400	98880	C2584774	D000347	fibrinogen beta chain; fibrinogen gamma chain; fibrinogen alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital afibrinogenemia"	491
Alexander disease	alexander's disease//alxdrd//axd//axd - alexander disease//fibrinoid leukodystrophy	GFAP	GFAP	https://raresource.nih.gov/literature/disease/0005774	0005774	203450	58	C0270726	D038261	glial fibrillary acidic protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alexander disease"	648
Alkaptonuria	aku//alcaptonuria//alkaptonuric ochronosis//deficiency of homogentisate 1,2-dioxygenase//deficiency of homogentisate oxygenase//deficiency of homogentisicase//hereditary ochronosis//hgd-gene related homogentisate 1,2-dioxygenase deficiency//homogentisate 1,2-dioxygenase deficiency//homogentisic acid oxidase deficiency//homogentisic acidura//homogentisicaciduria	HGD	HGD	https://raresource.nih.gov/literature/disease/0005775	0005775	203500	56	C0002066	D000474	homogentisate 1,2-dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alkaptonuria"	1220
Progressive sclerosing poliodystrophy	ahd//ahs//alper syndrome//alper's disease//alper's syndrome//alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis//alpers disease//alpers huttenlocher disease//alpers huttenlocher syndrome//alpers progressive infantile poliodystrophy//alpers progressive sclerosing poliodystrophy//alpers syndrome//alpers' disease//alpers' disease or gray-matter degeneration//alpers-huttenlocher//alpers-huttenlocher syndrome//gray matter degeneration//mitochondrial dna depletion syndrome 4a//mitochondrial dna depletion syndrome 4a (alpers type)//mitochondrial dna depletion syndrome type 4a//mtdps4a//neuronal degeneration of childhood with liver disease, progressive//poliodystrophy//progressive neuronal degeneration of childhood with liver disease//progressive neuronal degeneration with liver cirrhosis//spongy glioneuronal dystrophy	POLG	POLG	https://raresource.nih.gov/literature/disease/0005783	0005783	203700	726	C0205710		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive sclerosing poliodystrophy"	1171
Alpha-1-antitrypsin deficiency	a-1atd//a1ad//a1at deficiency//a1atd//aat deficiency//alpha-1-proteinase inhibitor deficiency//deficiency in alpa-1-proteinase inhibitor//emphysema due to aat deficiency//emphysema-cirrhosis, due to aat deficiency//hemorrhagic diathesis due to antithrombin pittsburgh	SERPINA1	SERPINA1	https://raresource.nih.gov/literature/disease/0005784	0005784	613490	60	C0221757	D019896	serpin family A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-1-antitrypsin deficiency"	3164
Amyotrophic lateral sclerosis	als//als - amyotrophic lateral sclerosis//bulbar motor neuron disease//charcot disease//lou gehrig disease//lou gehrig's disease//motor neuron disease, bulbar	MATR3;SOD1;OPTN;ERBB4;HNRNPA1;FUS;GLE1;PON2;ANG;CFAP410;VAPB;CHCHD10;FIG4;PON1;TARDBP;UBQLN2;VCP;C9orf72;ANXA11;SQSTM1;PFN1;CCNF;CHMP2B;DAO;PON3	MATR3;SOD1;OPTN;ERBB4;HNRNPA1;FUS;GLE1;PON2;ANG;CFAP410;VAPB;CHCHD10;FIG4;PON1;TARDBP;UBQLN2;VCP;C9orf72;ANXA11;SQSTM1;PFN1;CCNF;CHMP2B;DAO;PON3	https://raresource.nih.gov/literature/disease/0005786	0005786		803	C0002736	D000690	matrin 3; superoxide dismutase 1; optineurin; erb-b2 receptor tyrosine kinase 4; heterogeneous nuclear ribonucleoprotein A1; FUS RNA binding protein; GLE1 RNA export mediator; paraoxonase 2; angiogenin; cilia and flagella associated protein 410; VAMP associated protein B and C; coiled-coil-helix-coiled-coil-helix domain containing 10; FIG4 phosphoinositide 5-phosphatase; paraoxonase 1; TAR DNA binding protein; ubiquilin 2; valosin containing protein; C9orf72-SMCR8 complex subunit; annexin A11; sequestosome 1; profilin 1; cyclin F; charged multivesicular body protein 2B; D-amino acid oxidase; paraoxonase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis"	36490
Alstrom syndrome	alms//alss//alstrom's syndrome//alström syndrome	ALMS1	ALMS1	https://raresource.nih.gov/literature/disease/0005787	0005787	203800	64	C0268425	D056769	ALMS1 centrosome and basal body associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alstrom syndrome"	502
Oto-palato-digital syndrome, type II	faciopalatoosseous syndrome//opd 2 syndrome//opd ii syndrome//opd syndrome 2//opd2//otopalatodigital syndrome type 2//otopalatodigital syndrome type i and ii//otopalatodigital syndrome, type ii, x-linked dominant	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0005802	0005802	304120	90652	C1844696	C538089	filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oto-palato-digital syndrome, type II"	29
Androgen resistance syndrome	ais//ais - androgen insensitivity syndrome//androgen insensitivity//androgen insensitivity syndrome//androgen insensitivity syndrome due to coactivator deficiency//androgen insensitivity, complete//androgen insensitivity, x-linked recessive//androgen receptor deficiency//androgen-insensitivity syndrome//dhtr deficiency//dihydrotestosterone receptor deficiency//goldberg - maxwell syndrome//goldberg maxwell syndrome//goldberg-maxwell syndrome//morris syndrome//testicular feminization//testicular feminization syndrome	AR	AR	https://raresource.nih.gov/literature/disease/0005803	0005803		754	C0039585	D013734	androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Androgen resistance syndrome"	15267
Anencephaly 1	isolated anencephaly/exencephaly	TRIM36	TRIM36	https://raresource.nih.gov/literature/disease/0005808	0005808	206500	1048	C5561928		tripartite motif containing 36	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anencephaly 1"	None
Angelman syndrome	angelman's syndrome//angelman’s syndrome//as//happy puppet syndrome//puppetlike syndrome	UBE3A	UBE3A	https://raresource.nih.gov/literature/disease/0005810	0005810	105830	72	C0162635	C531619;D017204	ubiquitin protein ligase E3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angelman syndrome"	24964
Isolated aniridia	nonsyndromic aniridia	PAX6;FOXC1;TRIM44	PAX6;FOXC1;TRIM44	https://raresource.nih.gov/literature/disease/0005816	0005816		250923	CN295308		paired box 6; forkhead box C1; tripartite motif containing 44	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated aniridia"	18
Acrocephalosyndactyly type I	acrocephalo-syndactyly type 1//acrocephalosyndactyly (apert)//acrocephalosyndactyly type 1//acs 1//acs1//apert syndrome//syndactylic oxycephaly//type i acrocephalosyndactyly	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0005833	0005833	101200	87	C0001193	D000168	fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrocephalosyndactyly type I"	845
Aplasia cutis congenita	absence of part of skin at birth//acc//acc - aplasia cutis congenita//aplasia cutis congenita (disease)//aplasia cutis congenita recessive//aplasia of skin//congenital absence of skin//congenital defect of skull and scalp//congenital scars//cutis aplasia//epitheliogenesis imperfecta	BMS1	BMS1	https://raresource.nih.gov/literature/disease/0005835	0005835	107600	1114	C0282160		BMS1 ribosome biogenesis factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aplasia cutis congenita"	5434
Arginase deficiency	arg1 deficiency//arg1-gene related arginase deficiency//argi deficiency//arginase 1-gene related arginase deficiency//argininemia//deficiency of arginase//deficiency of canavanase//hyperargininemia	ARG1	ARG1	https://raresource.nih.gov/literature/disease/0005840	0005840	207800	90	C0268548	D020162	arginase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arginase deficiency"	284
Argininosuccinate lyase deficiency	argininosuccinase deficiency//argininosuccinic acid lyase deficiency//argininosuccinic acidemia//argininosuccinic aciduria//arginosuccinase deficiency//asa deficiency//asal deficiency//asl deficiency//asl-gene related argininosuccinate lyase deficiency//deficiency of argininosuccinate lyase	ASL	ASL	https://raresource.nih.gov/literature/disease/0005843	0005843	207900	23	C0268547	D056807	argininosuccinate lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Argininosuccinate lyase deficiency"	330
Aspartylglucosaminuria	aga deficiency//agu//aspartylglucos-amidase (aga) deficiency//aspartylglucosaminidase deficiency//aspartylglycosaminuria//aspartylglycosylaminase deficiency//glycoasparaginase//glycosylasparaginase deficiency//high urine aspartylglucosamine levels	AGA	AGA	https://raresource.nih.gov/literature/disease/0005854	0005854	208400	93	C0268225	D054880	aspartylglucosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aspartylglucosaminuria"	273
Ataxia-telangiectasia syndrome	at//at, complementation group c//ataxia - telangiectasia//ataxia telangiectasia//ataxia-telangiectasia//ataxia-telangiectasia, complementation group a//ataxia-telangiectasia, complementation group d//ataxia-telangiectasia, complementation group e//ataxia-telangiectasia, fresno variant//boder-sedgwick syndrome//cerebello-oculocutaneous telangiectasia//immunodeficiency with ataxia telangiectasia//louis bar syndrome//louis-bar syndrome	ATM	ATM	https://raresource.nih.gov/literature/disease/0005862	0005862	208900	100	C0004135	D001260	ATM serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-telangiectasia syndrome"	11145
Alpha thalassemia-X-linked intellectual disability syndrome	alpha thalassemia mental retardation syndrome, nondeletion type, x-linked//alpha thalassemia x-linked intellectual deficit//alpha thalassemia x-linked mental retardation syndrome//alpha thalassemia/intellectual disability syndrome x-linked//alpha thalassemia/mental retardation syndrome x-linked//alpha-thalassemia/impaired intellectual development syndrome, x-linked//alpha-thalassemia/intellectual disability syndrome nondeletion type//alpha-thalassemia/mental retardation syndrome nondeletion type//alpha-thalassemia/mental retardation syndrome, x-linked//alpha-thalassemia/mental retardation syndrome, x-linked dominant//atr, nondeletion type//atr-x syndrome//atrx//x-linked alpha-thalassemia-mental retardation syndrome//xlmr hypotonic face syndrome	ATRX	ATRX	https://raresource.nih.gov/literature/disease/0005864	0005864	301040	847	C1845055	C538258	ATRX chromatin remodeler	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha thalassemia-X-linked intellectual disability syndrome"	116
Atrial septal defect, ostium secundum type	2 asd - secundum atrial septal defect//asd ii//asd ii - secundum atrial septal defect//asd, ostium secundum type//asd2 - secundum atrial septal defect//atrial septal defect of fossa ovalis//atrial septal defect within oval fossa//fossa ovalis defect//ostium secundum atrial septal defect//ostium secundum defect//ostium secundum type atrial septal defect//patent ostium secundum//secundum atrial septal defect	TLL1;CITED2;GATA4;GATA6;ACTC1;TBX20;NKX2-5;MYH6	TLL1;CITED2;GATA4;GATA6;ACTC1;TBX20;NKX2-5;MYH6	https://raresource.nih.gov/literature/disease/0005865	0005865		99103	C0344724		tolloid like 1; Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2; GATA binding protein 4; GATA binding protein 6; actin alpha cardiac muscle 1; T-box transcription factor 20; NK2 homeobox 5; myosin heavy chain 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect, ostium secundum type"	968
Bannayan-Riley-Ruvalcaba syndrome	bannayan syndrome//bannayan-zonana syndrome//brrs//macrocephaly with multiple lipomas and hemangiomas//myhre-riley-smith syndrome//riley smith syndrome//riley-smith syndrome//ruvalcaba myhre smith syndrome//ruvalcaba-myhre-smith syndrome	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0005887	0005887		109	C0265326		phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bannayan-Riley-Ruvalcaba syndrome"	210
3-Methylglutaconic aciduria type 2	3-methylglutaconicaciduria type ii//barth syndrome//barth syndrome, x-linked recessive//bths//cardioskeletal myopathy with neutropenia and abnormal mitochondria//cardioskeletal myopathy-neutropenia syndrome//mga type 2//mga type ii//mga2//taz-related dilated cardiomyopathy//x-linked cardioskeletal myopathy and neutropenia	TAFAZZIN	TAFAZZIN	https://raresource.nih.gov/literature/disease/0005890	0005890	302060	111	C0574083	D056889	tafazzin, phospholipid-lysophospholipid transacylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-Methylglutaconic aciduria type 2"	525
Neuronal ceroid lipofuscinosis 3	amaurotic idiocy juvenile type//amaurotic idiocy, juvenile type//batten-mayou disease//batten-mayou syndrome//batten-spielmeyer-vogt disease//cerebral lipidosis myoclonic variant//cerebral lipidosis, myoclonic variant//ceroid lipofuscinosis, neuronal, type 3//classic juvenile ncl//classic juvenile neuronal ceroid lipofuscinosis//cln3//cln3 disease//cln3 neuronal ceroid lipofuscinosis//cln3-related neuronal ceroid-lipofuscinosis//juvenile cln3 disease//neuronal ceroid lipofuscinosis caused by mutation in cln3//neuronal ceroid lipofuscinosis type 3//spielmeyer-vogt type neuronal ceroid lipofuscinosis	CLN3	CLN3	https://raresource.nih.gov/literature/disease/0005897	0005897	204200	228346	C0751383		CLN3 lysosomal/endosomal transmembrane protein, battenin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 3"	2689
Congenital contractural arachnodactyly	arthrogryposis, distal, type 9//beals hecht syndrome//beals syndrome//beals-hecht syndrome//cca//cca - congenital contractural arachnodactyly//cca syndrome//distal arthrogryposis type 9	FBN2	FBN2	https://raresource.nih.gov/literature/disease/0005899	0005899	121050	115	C0220668	C536211	fibrillin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital contractural arachnodactyly"	4258
Becker muscular dystrophy	becker dystrophinopathy//becker muscular dystrophy, x-linked recessive//becker's disease//becker's muscular dystrophy//benign congenital myopathy//benign pseudohypertrophic muscular dystrophy//bmd//bmd - becker muscular dystrophy//muscular dystrophy, pseudohypertrophic progressive, becker type	DMD	DMD	https://raresource.nih.gov/literature/disease/0005900	0005900	300376	98895	C0917713	C570377	dystrophin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Becker muscular dystrophy"	2307
Becker nevus syndrome	bns//pigmentary hairy epidermal nevus	ACTB	ACTB	https://raresource.nih.gov/literature/disease/0005901	0005901	604919	64755	C1858042	C565735	actin beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Becker nevus syndrome"	146
Blue rubber bleb nevus	bean syndrome//blue rubber bleb nevus syndrome//brbn//brbns	TEK	TEK	https://raresource.nih.gov/literature/disease/0005940	0005940	112200	1059	C0346072	C536240	TEK receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blue rubber bleb nevus"	445
Bowen-Conradi syndrome	bowen hutterite syndrome//bowen hutterite syndrome (formerly)//bowen hutterite syndrome, formerly//bowen syndrome, hutterite type//bowen-conradi hutterite syndrome//bwcns//hutterite syndrome	EMG1	EMG1	https://raresource.nih.gov/literature/disease/0005950	0005950	211180	1270	C1859405	C537081	EMG1 N1-specific pseudouridine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bowen-Conradi syndrome"	3850
Budd-Chiari syndrome	bdchs//budd-chiari syndrome, somatic//f5-related budd-chiari syndrome//hepatic vein obstruction//jak2-related budd-chiari syndrome	JAK2;F5	JAK2;F5	https://raresource.nih.gov/literature/disease/0005968	0005968	600880	131	C0856761	D006502	Janus kinase 2; coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Budd-Chiari syndrome"	3375
Burkitt lymphoma	bl//bl - burkitt's lymphoma//burkitt lymphoma, somatic//burkitt lymphoma/leukemia//burkitt's lymphoma//burkitt's lymphoma (clinical)//burkitt's lymphoma - disorder//burkitt's tumor//burkitt's tumor or lymphoma//burkitt's tumour//burkitt's tumour or lymphoma//burkitt's type malignant lymphoma - small non-cleaved//burkitt's type malignant lymphoma - undifferentiated//malignant lymphoma, burkitt's type//malignant lymphoma, small noncleaved, burkitt's, diffuse//small non-cleaved cell lymphoma//small non-cleaved cell lymphoma, burkitt's type	MYC	MYC	https://raresource.nih.gov/literature/disease/0005973	0005973	113970	543	C0006413	D002051	MYC proto-oncogene, bHLH transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Burkitt lymphoma"	9871
C syndrome	opitz c trigonocephaly//opitz trigonocephaly c syndrome//opitz trigonocephaly syndrome//otcs//trigonocephaly c syndrome//trigonocephaly syndrome	CD96	CD96	https://raresource.nih.gov/literature/disease/0005978	0005978	211750	1308	C0796095	C537418	CD96 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C syndrome"	1414
Spongy degeneration of central nervous system	acy2 deficiency//aminoacylase 2 deficiency//asp deficiency//aspa deficiency//aspartoacylase deficiency//canavan disease//canavan's disease//canavan-van bogaert-bertrand disease//canavan-van-bogaert-bertrand disease//spongiform leucodystrophy//spongy degeneration of the brain//spongy degeneration of white matter//spongy degeneration of white matter in infancy//von bogaert-bertrand disease	ASPA	ASPA	https://raresource.nih.gov/literature/disease/0005984	0005984	271900	141	C0206307	D017825	aspartoacylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spongy degeneration of central nervous system"	1840
Autosomal recessive osteopetrosis 4	autosomal recessive malignant osteopetrosis caused by mutation in clcn7//autosomal recessive osteopetrosis caused by mutation in clcn7//autosomal recessive osteopetrosis type 4//clcn7 autosomal recessive malignant osteopetrosis//clcn7 autosomal recessive osteopetrosis//clcn7-related osteopetrosis//infantile malignant clcn7-related autosomal recessive osteopetrosis//infantile malignant clcn7-related recessive osteopetrosis//infantile malignant osteopetrosis 2//optb4//osteopetrosis, autosomal recessive type 4	CLCN7	CLCN7	https://raresource.nih.gov/literature/disease/0005993	0005993	611490		C1969106	C566933	chloride voltage-gated channel 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 4"	3
Caroli disease		PKHD1	PKHD1	https://raresource.nih.gov/literature/disease/0006002	0006002	600643	53035	C0162510	D016767	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Caroli disease"	182
Carpenter syndrome	acps2//acrocephalopolysyndactyly type 2//acrocephalopolysyndactyly type ii//carpenter 's syndrome//type ii acrocephalopolysyndactyly	RAB23;MEGF8	RAB23;MEGF8	https://raresource.nih.gov/literature/disease/0006003	0006003		65759	C1275078		RAB23, member RAS oncogene family; multiple EGF like domains 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carpenter syndrome"	99
Caudal regression sequence	caudal dysgenesis syndrome//caudal dysplasia//caudal dysplasia sequence//caudal regression syndrome//sacral agenesis syndrome//sacral regression syndrome	FUZ	FUZ	https://raresource.nih.gov/literature/disease/0006007	0006007		3027	C0300948		fuzzy planar cell polarity protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Caudal regression sequence"	339
Congenital bilateral perisylvian syndrome	bilateral perisylvian polymicrogyria//perisylvian syndrome	ADGRG1;PI4KA	ADGRG1;PI4KA	https://raresource.nih.gov/literature/disease/0006011	0006011		98889	C1845668		adhesion G protein-coupled receptor G1; phosphatidylinositol 4-kinase alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bilateral perisylvian syndrome"	420
Central core myopathy	central core disease//cmyo1a//congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia//myopathy, central fibrillar	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0006014	0006014	117000	597	C5830701	D020512	ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central core myopathy"	458
Cerebro-costo-mandibular syndrome	ccms//rib gap defects with micrognathia	SNRPB	SNRPB	https://raresource.nih.gov/literature/disease/0006026	0006026	117650	1393	C0265342	C562538	small nuclear ribonucleoprotein polypeptides B and B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebro-costo-mandibular syndrome"	622
COFS syndrome	camak - cerebro-oculo-facio-skeletal syndrome//camfak - cerebro-oculo-facio-skeletal syndrome//cerebro oculo facio skeletal syndrome//cerebro-oculo-facio-skeletal syndrome//cerebrooculofacioskeletal syndrome//cofs//cofs - cerebro-oculo-facio-skeletal syndrome//pena-shokeir syndrome type 2//pena-shokeir syndrome, type ii	ERCC1;ERCC6;ERCC2;ERCC5	ERCC1;ERCC6;ERCC2;ERCC5	https://raresource.nih.gov/literature/disease/0006027	0006027		1466	C5399761		ERCC excision repair 1, endonuclease non-catalytic subunit; ERCC excision repair 6, chromatin remodeling factor; ERCC excision repair 2, TFIIH core complex helicase subunit; ERCC excision repair 5, endonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COFS syndrome"	78
Chédiak-Higashi syndrome	beguez cesar disease//béguez césar disease//chc)diak-higashi disease//chc)diak-higashi-steinbrink syndrome//chediak - steinbrinck anomaly//chediak anomaly//chediak higashi syndrome//chediak-higashi syndrome//chediak-steinbrinck anomaly//chediak-steinbrinck-higashi syndrome//chs//chédiak anomaly//chédiak-higashi disease//chédiak-higashi-steinbrink syndrome//chédiak-steinbrinck anomaly//congenital gigantism of peroxidase granules//granulation anomaly of leukocytes//hereditary gigantism of cytoplasmic organelles//hereditary leukomelanopathy//steinbrinck anomaly	LYST	LYST	https://raresource.nih.gov/literature/disease/0006035	0006035	214500	167	C0007965	D002609	lysosomal trafficking regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chédiak-Higashi syndrome"	2168
Fibrous dysplasia of jaw	cherubism//crbm//familial fibrous dysplasia of jaw//familial fibrous dysplasia of the jaws//familial multilocular cystic disease of the jaws	SH3BP2	SH3BP2	https://raresource.nih.gov/literature/disease/0006036	0006036	118400	184	C0008029	D002636	SH3 domain binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrous dysplasia of jaw"	520
Child syndrome	child (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome//child nevus//child syndrome, x-linked dominant//congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome//congenital hemidysplasia with ichthyosiform nevus and limbs defects//ichthyosis, child syndrome	NSDHL	NSDHL	https://raresource.nih.gov/literature/disease/0006039	0006039	308050	139	C0265267	C562515	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Child syndrome"	160
Rhizomelic chondrodysplasia punctata type 1	chondrodystrophia calcificans punctata//pbd9//peroxisome biogenesis disorder 9//pex7 rhizomelic chondrodysplasia punctata//rcdp1//rhizomelic chondrodysplasia punctata caused by mutation in pex7	PEX7	PEX7	https://raresource.nih.gov/literature/disease/0006049	0006049	215100	309789	C1859133		peroxisomal biogenesis factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhizomelic chondrodysplasia punctata type 1"	60
Chondrosarcoma	chondrosarcoma (disease)//chondrosarcoma, malignant//chondrosarcoma, somatic//chondrosarcoma, somatic mutation//fibrochondrosarcoma	EXT1	EXT1	https://raresource.nih.gov/literature/disease/0006055	0006055	215300	55880	C0008479	D002813	exostosin glycosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrosarcoma"	5712
Choroideremia	chm//progressive choroidal atrophy//tapetochoroidal dystrophy	CHM	CHM	https://raresource.nih.gov/literature/disease/0006061	0006061	303100	180	C0008525	D015794	CHM Rab escort protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choroideremia"	1022
Chronic granulomatous disease	bridges-good syndrome//cgd//cgd - chronic granulomatous disease//chronic septic granulomatosis//congenital dysphagocytosis//quie syndrome	CYBA;NCF1;NCF2;NCF4;CYBC1;CYBB	CYBA;NCF1;NCF2;NCF4;CYBC1;CYBB	https://raresource.nih.gov/literature/disease/0006100	0006100		379	C0018203	D006105	cytochrome b-245 alpha chain; neutrophil cytosolic factor 1; neutrophil cytosolic factor 2; neutrophil cytosolic factor 4; cytochrome b-245 chaperone 1; cytochrome b-245 beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic granulomatous disease"	4144
B-cell chronic lymphocytic leukemia	b cell chronic lymphocytic leukaemia//b cell cll//b cell lymphocytic leukaemia//b cell lymphocytic leukemia//b-cell chronic lymphocytic leukemia/small lymphocytic lymphoma//b-cell chronic lymphogenous leukaemia//b-cell chronic lymphogenous leukemia//b-cell chronic lymphoid leukaemia//b-cell chronic lymphoid leukemia//b-cell cll//b-cell cll/sll (chronic lymphocytic leukemia/small lymphocytic lymphoma)//b-cell lymphocytic leukaemia//b-cell lymphocytic leukemia//b-cll//bcll//chronic b-cell lymphocytic leukaemia//chronic b-cell lymphocytic leukemia//chronic lymphatic leukaemia//chronic lymphatic leukemia//chronic lymphocytic leukaemia//chronic lymphocytic leukaemia (cll)//chronic lymphocytic leukemia//chronic lymphocytic leukemia (cll)//chronic lymphocytic leukemia, b-cell type//chronic lymphogenous leukaemia//chronic lymphogenous leukemia//chronic lymphoid leukemia//chronic lymphoid leukemia, disease//cll//cll - chronic lymphocytic leukemia//familial chronic lymphocytic leukemia//hematopoeitic - chronic lymphocytic leukaemia (cll)//hematopoeitic - chronic lymphocytic leukemia (cll)//leukemia, b-cell, chronic//lymphoplasmacytic leukaemia//lymphoplasmacytic leukemia//malignant lymphoma lymphocytic well differentiated diffuse//small lymphocytic lymphoma	RPS15;ATM;IKZF3;POT1;TP53	RPS15;ATM;IKZF3;POT1;TP53	https://raresource.nih.gov/literature/disease/0006104	0006104	151400	67038	C0023434	D015451	ribosomal protein S15; ATM serine/threonine kinase; IKAROS family zinc finger 3; protection of telomeres 1; tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B-cell chronic lymphocytic leukemia"	28478
Chronic myelogenous leukemia, BCR-ABL1 positive	bcr-abl positive chronic myelogenous leukaemia//bcr-abl positive chronic myelogenous leukemia//cgl - chronic granulocytic leukemia//chronic granulocytic leukaemia//chronic granulocytic leukemia//chronic myelocytic leukaemia//chronic myelocytic leukemia//chronic myelogenous leukaemia//chronic myelogenous leukaemia (cml)//chronic myelogenous leukemia//chronic myelogenous leukemia (cml)//chronic myelogenous leukemias//chronic myeloid leukaemia//chronic myeloid leukemia//chronic myeloid leukemia, disease//cml//cml - chronic myelogenous leukaemia//cml - chronic myelogenous leukemia//cml - chronic myeloid leukemia//familial chronic myelocytic leukemia//hematopoeitic - chronic myelocytic leukaemia (cml)//hematopoeitic - chronic myelocytic leukemia (cml)//leukemia, chronic myeloid, philadelphia chromosome positive, somatic//leukemia, philadelphia chromosome-positive, resistant to imatinib, somatic mutation//myeloid leukemia, chronic//philadelphia chromosome positive chronic myelogenous leukemia	ABL1;BCR	ABL1;BCR	https://raresource.nih.gov/literature/disease/0006105	0006105	608232	521	C0279543	D015464	ABL proto-oncogene 1, non-receptor tyrosine kinase; BCR activator of RhoGEF and GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic myelogenous leukemia, BCR-ABL1 positive"	31426
Citrullinemia type I	argininosuccinate synthase 1-gene related citrullinemia type i//argininosuccinate synthetase deficiency//argininosuccinic acid synthase deficiency//argininosuccinic acid synthetase deficiency//ass deficiency//ass1-gene related citrullinemia type i//citrullinemia type 1//classic citrullinemia//ctln1//ctnl1	ASS1	ASS1	https://raresource.nih.gov/literature/disease/0006114	0006114	215700	247525	C4721769		argininosuccinate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Citrullinemia type I"	157
Cleidocranial dysostosis	ccd - cleidocranial dysplasia//clcd - cleidocranial dysplasia//clcd1//cleidocranial dysplasia//cleidocranial dysplasia 1//craniocleidodysostosis//marie-sainton disease	RUNX2	RUNX2	https://raresource.nih.gov/literature/disease/0006118	0006118	119600	1452	C0008928	D002973	RUNX family transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleidocranial dysostosis"	1007
Coffin-Lowry syndrome	cls//cls - coffin-lowry syndrome//coffin-lowry syndrome, mild//coffin-lowry syndrome, x-linked dominant//mental retardation with osteocartilaginous abnormalities	RPS6KA3	RPS6KA3	https://raresource.nih.gov/literature/disease/0006123	0006123	303600	192	C0265252	C536435;D038921	ribosomal protein S6 kinase A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Lowry syndrome"	612
Coffin-Siris syndrome	css//dwarfism-onychodysplasia//fifth digit syndrome//short stature-onychodysplasia.	ARID1B;ARID2;SMARCD1;SMARCC2;SMARCB1;DPF2;SMARCA4;SOX11;SMARCE1;ARID1A;SOX4	ARID1B;ARID2;SMARCD1;SMARCC2;SMARCB1;DPF2;SMARCA4;SOX11;SMARCE1;ARID1A;SOX4	https://raresource.nih.gov/literature/disease/0006124	0006124		1465	C0265338	C536436	AT-rich interaction domain 1B; AT-rich interaction domain 2; SWI/SNF related BAF chromatin remodeling complex subunit D1; SWI/SNF related BAF chromatin remodeling complex subunit C2; SWI/SNF related BAF chromatin remodeling complex subunit B1; double PHD fingers 2; SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4; SRY-box transcription factor 11; SWI/SNF related BAF chromatin remodeling complex subunit E1; AT-rich interaction domain 1A; SRY-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome"	1498
Cohen syndrome	coh1//cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness//pepper syndrome	VPS13B	VPS13B	https://raresource.nih.gov/literature/disease/0006126	0006126	216550	193	C0265223	C536438	vacuolar protein sorting 13 homolog B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cohen syndrome"	240
Cone-rod dystrophy 2	cone-rod dystrophy caused by mutation in crx//cone-rod dystrophy type 2//cone-rod retinal dystrophy 2//cone-rod retinal dystrophy-2//cord2//crd2//crx cone-rod dystrophy//rcrd2//retinal cone-rod dystrophy 2	CRX	CRX	https://raresource.nih.gov/literature/disease/0006145	0006145			C3489532		cone-rod homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 2"	3
Hereditary antithrombin deficiency	anti-thrombin iii deficiency//antithrombin 3 deficiency//antithrombin deficiency//antithrombin iii deficiency//at (antithrombin) deficiency//at iii deficiency//at3d//congenital antithrombin iii deficiency//congenital at-iii deficiency//decreased antithrombin iii//hereditary thrombophilia due to congenital antithrombin 3 deficiency//hereditary thrombophilia due to congenital antithrombin deficiency//inherited antithrombin deficiency//reduced antithrombin iii activity//thrombophilia 7 due to antithrombin iii deficiency//thrombophilia due to antithrombin 3 deficiency//thrombophilia due to antithrombin iii deficiency	SERPINC1	SERPINC1	https://raresource.nih.gov/literature/disease/0006148	0006148	613118	82	C0272375	D020152	serpin family C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary antithrombin deficiency"	1283
Congenital myopathy with fiber type disproportion	cftdm//congenital fiber-type disproportion//congenital fiber-type disproportion myopathy//congenital myopathy with fibre type disproportion	SELENON;HACD1;TPM2;TPM3;ITGA7;MYL2;ACTA1;MAP3K20	SELENON;HACD1;TPM2;TPM3;ITGA7;MYL2;ACTA1;MAP3K20	https://raresource.nih.gov/literature/disease/0006161	0006161		2020	C0546264		selenoprotein N; 3-hydroxyacyl-CoA dehydratase 1; tropomyosin 2; tropomyosin 3; integrin subunit alpha 7; myosin light chain 2; actin alpha 1, skeletal muscle; mitogen-activated protein kinase kinase kinase 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy with fiber type disproportion"	104
Polycystic kidney disease 4	pkd3//pkd4//polycystic kidney disease 4 with or without polycystic liver disease//polycystic kidney disease 4, with or without hepatic disease	PKHD1	PKHD1	https://raresource.nih.gov/literature/disease/0006168	0006168			C4540575		PKHD1 ciliary IPT domain containing fibrocystin/polyductin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 4"	2
Hepatoerythropoietic porphyria	hep//homozygous porphyria cutanea tarda	UROD	UROD	https://raresource.nih.gov/literature/disease/0006169	0006169		95159	C0162569	D017121	uroporphyrinogen decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatoerythropoietic porphyria"	129
Congenital myotonia, autosomal dominant form	congenital myotonia//myotonia congenita - autosomal dominant form//myotonia congenita autosomal dominant//myotonia congenita, autosomal dominant//myotonia congenita, dominant//thd//thomsen disease//thomsen myotonia congenita//thomsen's disease	CLCN1	CLCN1	https://raresource.nih.gov/literature/disease/0006176	0006176	160800		C2936781		chloride voltage-gated channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myotonia, autosomal dominant form"	238
Sucrase-isomaltase deficiency	congenital sucrase-isomaltase deficiency//congenital sucrase-isomaltose malabsorption//congenital sucrose intolerance//congenital sucrose isomaltose malabsorption//congenital sucrose malabsorption//congenital sucrose-isomaltase intolerance//csid//deficiency of isomaltase//deficiency of oligo-1,6-glucosidase//disaccharide intolerance//disaccharide intolerance i//genetic sucrase-isomaltose malabsorption//intestinal sucrase-a-dextrinase deficiency//si deficiency//sucrase-alpha-dextrinase deficiency//sucrose isomaltose enzyme deficiency	SI	SI	https://raresource.nih.gov/literature/disease/0006183	0006183	222900	35122	C1283620	C538139	sucrase-isomaltase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sucrase-isomaltase deficiency"	201
Chondrodysplasia punctata 2 X-linked dominant	cdpx2//cdpxd//chondrodysplasia punctata caused by mutation in ebp//chondrodysplasia punctata, conradi-hunermann type//chondrodysplasia punctata, conradi-hünermann type//chondrodysplasia punctata, x-linked dominant type//chondrodysplasia punctata, x-linked dominant, x-linked dominant//conrad hunermann happle syndrome//conradi disease//conradi hunermann syndrome//conradi hünermann happle syndrome//conradi hünermann syndrome//conradi's syndrome//conradi-hunermann syndrome//conradi-hunermann-happle syndrome//conradi-hünermann syndrome//conradi-hünermann-happle syndrome//cpxd//ebp chondrodysplasia punctata//happle syndrome//hunermann-conradi syndrome//x-linked chondrodysplasia punctata 2//x-linked chondrodysplasia punctata type 2//x-linked dominant chondrodysplasia punctata	EBP	EBP	https://raresource.nih.gov/literature/disease/0006189	0006189	302960	35173	C0282102		EBP cholestenol delta-isomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrodysplasia punctata 2 X-linked dominant"	184
Congenital hereditary endothelial dystrophy of cornea	autosomal recessive ched//autosomal recessive congenital hereditary endothelial dystrophy//ched//ched ii - congenital hereditary endothelial dystrophy ii//ched2//chedii//congenital hereditary endothelial dystrophy of the cornea//congenital hereditary endothelial dystrophy type 2//congenital hereditary endothelial dystrophy type ii//congenital hereditary endothelial dystrophy, autosomal recessive form//corneal dystrophy, congenital hereditary endothelial//corneal endothelial dystrophy, autosomal recessive//infantile hereditary endothelial dystrophy//maumenee corneal dystrophy	SLC4A11	SLC4A11	https://raresource.nih.gov/literature/disease/0006196	0006196	217700	293603	C1857569	C536439	solute carrier family 4 member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital hereditary endothelial dystrophy of cornea"	132
Cowden syndrome	cowden disease//cowden's disease//cowden's syndrome//cs//multiple hamartoma syndrome	SEC23B;USF3;SDHD;AKT1;PIK3CA;SDHB;PTEN;KLLN;SDHC	SEC23B;USF3;SDHD;AKT1;PIK3CA;SDHB;PTEN;KLLN;SDHC	https://raresource.nih.gov/literature/disease/0006202	0006202		201	C0018553	D006223	SEC23 homolog B, COPII coat complex component; upstream transcription factor family member 3; succinate dehydrogenase complex subunit D; AKT serine/threonine kinase 1; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; succinate dehydrogenase complex iron sulfur subunit B; phosphatase and tensin homolog; killin, p53 regulated DNA replication inhibitor; succinate dehydrogenase complex subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome"	10384
Cramp-fasciculation syndrome	benign fasciculation cramp syndrome//benign fasciculation-cramp syndrome//syndrome of foley and denny-brown	TRPA1	TRPA1	https://raresource.nih.gov/literature/disease/0006205	0006205		581271	C0751381		transient receptor potential cation channel subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cramp-fasciculation syndrome"	49
Crouzon syndrome	craniofacial dysostosis//craniofacial dysostosis type 1//craniofacial dysostosis, type i//crouzon craniofacial dysostosis//crouzon disease//crouzon's disease	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0006206	0006206	123500	207	C0010273	D003394	fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crouzon syndrome"	988
Congenital livedo reticularis	cmtc//cmtc - cutis marmorata telangiectatica congenita//cutis marmorata telangiectasia congenita//cutis marmorata telangiectatica congenita//cutis marmorata telangiectatica congenita (disease)//van lohuizen's syndrome	GNA11	GNA11	https://raresource.nih.gov/literature/disease/0006228	0006228	219250	1556	C0345419	C536226	G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital livedo reticularis"	248
Cyclical neutropenia	ch//cn//cyclic agranulocytosis//cyclic hematopoiesis//cyclic neutropenia//cyclically decreased total neutrophil count//cyn//dysplasia, myelocytic periodic//neutropenia, cyclic//neutropenia, periodic//periodic neutropenia	ELANE	ELANE	https://raresource.nih.gov/literature/disease/0006229	0006229	162800	2686	C0221023	C536227	elastase, neutrophil expressed	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cyclical neutropenia"	140
Cystic fibrosis	cf//cf - cystic fibrosis//cystic fibrosis lung disease, modifier of//fibrocystic disease//mucoviscidosis//pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	CFTR	CFTR	https://raresource.nih.gov/literature/disease/0006233	0006233	219700	586	C0010674	D003550	CF transmembrane conductance regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystic fibrosis"	55542
Cystinuria	csnu//csnu - cystinuria//cystinuria (disease)//cystinuria, non-type i//cystinuria, type i//cystinuria, type ii//cystinuria, type iii//cystinuria-lysinuria syndrome//high urine cystine levels//nitroprusside-cyanide urine test positive	SLC7A9;SLC3A1	SLC7A9;SLC3A1	https://raresource.nih.gov/literature/disease/0006237	0006237	220100	214	C0010691	D003555	solute carrier family 7 member 9; solute carrier family 3 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystinuria"	1338
Keratosis follicularis	dar//darier disease//darier's disease//darier-white disease//dyskeratosis follicularis//psorospermosis//psorospermosis follicularis vegetans	ATP2A2	ATP2A2	https://raresource.nih.gov/literature/disease/0006243	0006243	124200	218	C0022595	D007644	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis follicularis"	1374
Diamond-Blackfan anemia	aase syndrome//aase-smith ii syndrome//aregenerative anemia chronic congenital//blackfan - diamond syndrome//blackfan diamond syndrome//blackfan-diamond anaemia//blackfan-diamond anemia//chronic constitutional pure red cell anaemia//chronic constitutional pure red cell anemia//chronic constitutional pure red cell aplasia//congenital dyserythropoietic anaemia//congenital hypoplastic anaemia//congenital hypoplastic anemia//congenital hypoplastic anemia, blackfan-diamond type//congenital prca//congenital pure red cell anemia//congenital pure red cell aplasia//congenital red cell aplasia//dba//erythrogenesis imperfecta//inherited erythroblastopenia//red cell aplasia, pure hereditary	RPL11;TSR2;GATA1;ADA2;RPS28;RPS24;RPS19;RPS17;RPS15A;RPL9;HEATR3;RPS7;RPS29;RPS26;RPL35A;RPL15;RPS20;RPL18;RPL35;RPL5;RPS10;RPL26;RPL8	RPL11;TSR2;GATA1;ADA2;RPS28;RPS24;RPS19;RPS17;RPS15A;RPL9;HEATR3;RPS7;RPS29;RPS26;RPL35A;RPL15;RPS20;RPL18;RPL35;RPL5;RPS10;RPL26;RPL8	https://raresource.nih.gov/literature/disease/0006274	0006274		124	C1260899	D029503	ribosomal protein L11; TSR2 ribosome maturation factor; GATA binding protein 1; adenosine deaminase 2; ribosomal protein S28; ribosomal protein S24; ribosomal protein S19; ribosomal protein S17; ribosomal protein S15a; ribosomal protein L9; HEAT repeat containing 3; ribosomal protein S7; ribosomal protein S29; ribosomal protein S26; ribosomal protein L35a; ribosomal protein L15; ribosomal protein S20; ribosomal protein L18; ribosomal protein L35; ribosomal protein L5; ribosomal protein S10; ribosomal protein L26; ribosomal protein L8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia"	1191
Diastrophic dysplasia	dd - diastrophic dysplasia//diastrophic dwarf//diastrophic dwarfism//diastrophic dysplasia syndrome//diastrophic nanism syndrome//dtd//dtd - diastrophic dysplasia	SLC26A2	SLC26A2	https://raresource.nih.gov/literature/disease/0006275	0006275	222600	628	C0220726	C536170	solute carrier family 26 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diastrophic dysplasia"	462
Duane retraction syndrome	drs//duane anomaly//duane syndrome//duane's retraction syndrome//duane's syndrome//durs//eye retraction syndrome//globe retraction and deviation on adduction//limited eye motility from duane anomaly//limited eye movement from duane anomaly//retraction syndrome//stilling-turk-duane syndrome	MAFB;SALL4;CHN1	MAFB;SALL4;CHN1	https://raresource.nih.gov/literature/disease/0006288	0006288		233	C0013261	D004370	MAF bZIP transcription factor B; spalt like transcription factor 4; chimerin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duane retraction syndrome"	817
Dubowitz syndrome	dubowitz's syndrome	LIG4;NSUN2	LIG4;NSUN2	https://raresource.nih.gov/literature/disease/0006290	0006290	223370	235	C0175691	C535718	DNA ligase 4; NOP2/Sun RNA methyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dubowitz syndrome"	111
Duchenne muscular dystrophy	dmd//dmd - duchenne muscular dystrophy//duchenne muscular dystrophy, x-linked recessive//muscular dystrophy, duchenne//muscular dystrophy, pseudohypertrophic progressive, duchenne type//pseudohypertrophic muscular dystrophy//severe dystrophinopathy, duchenne type	DMD	DMD	https://raresource.nih.gov/literature/disease/0006291	0006291	310200	98896	C0013264	D020388	dystrophin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duchenne muscular dystrophy"	13992
Dyggve-Melchior-Clausen syndrome	dmc//dmc disease//dmc syndrome//dyggve-melchior-clausen disease//dyggve-melchior-clausen dysplasia//pseudo-morquio disease type i	DYM	DYM	https://raresource.nih.gov/literature/disease/0006295	0006295	223800	239	C0265286		dymeclin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyggve-Melchior-Clausen syndrome"	179
Dyskeratosis congenita, autosomal dominant 1	dkca1//dyskeratosis congenita scoggins type//dyskeratosis congenita, autosomal dominant type 1//dyskeratosis congenita, scoggins type	TERT;TINF2;TERC	TERT;TINF2;TERC	https://raresource.nih.gov/literature/disease/0006299	0006299			C4551974	C565079	telomerase reverse transcriptase; TERF1 interacting nuclear factor 2; telomerase RNA component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal dominant 1"	371
Dyskeratosis congenita, autosomal recessive 1	dkcb1//dyskeratosis congenita, autosomal recessive type 1	NHP2	NHP2	https://raresource.nih.gov/literature/disease/0006300	0006300	224230		C1857144	C565611	NHP2 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 1"	None
Recessive dystrophic epidermolysis bullosa	autosomal recessive dystrophic epidermolysis bullosa generalisata gravis//autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type//autosomal recessive generalized dystrophic epidermolysis bullosa, severe form//dysplastic epidermolysis bullosa dystrophica//dystrophic epidermolysis bullosa, autosomal recessive//ebd inversa//epidermolysis bullosa distrophica autosomal recessive (rdeb)//epidermolysis bullosa dystrophica, ar//epidermolysis bullosa dystrophica, autosomal recessive//epidermolysis bullosa dystrophica, autosomal recessive, modifier of//epidermolysis bullosa dystrophica, generalized severe, autosomal recessive//epidermolysis bullosa dystrophica, hallopeau-siemens type//generalized rdeb, severe form//hallopeau-siemens disease//polydysplastic epidermolysis bullosa//rdeb//rdeb generalisata gravis//rdeb, hallopeau-siemens type//rdeb-sev gen//severe generalized rdeb//severe generalized recessive dystrophic epidermolysis bullosa	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0006308	0006308	226600	79408	C0079474		collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recessive dystrophic epidermolysis bullosa"	910
Ebstein anomaly	ebstein anomaly (disease)//ebstein anomaly of the tricuspid valve//ebstein anomaly of tricuspid valve//ebstein malformation of the tricuspid valve//ebstein's anomaly//ebstein's anomaly (disorder) [ambiguous]//ebstein's anomaly of common atrioventricular valve//ebstein's anomaly of right atrioventricular valve//ebstein's anomaly of the tricuspid valve//ebstein's anomaly of tricuspid valve//ebstein's malformation//ebstein's malformation of tricuspid valve//ebsteins anomaly	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0006313	0006313	224700	1880	C0013481	D004437	myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ebstein anomaly"	2324
Ectrodactyly	cleft hand//fewer digits//lobster claw deformity//lobster claw hand//lobster-claw deformity//shfm//split hand foot malformation//split hand-foot malformation//split hand/split foot malformation//split-hand deformity//split-hand/foot malformation	TP63;EPS15L1;WNT10B;DLX5;DLX6	TP63;EPS15L1;WNT10B;DLX5;DLX6	https://raresource.nih.gov/literature/disease/0006319	0006319		2440	C0265554		tumor protein p63; epidermal growth factor receptor pathway substrate 15 like 1; Wnt family member 10B; distal-less homeobox 5; distal-less homeobox 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectrodactyly"	830
Epidermodysplasia verruciformis	lewandowsky-lutz disease//lewandowsky-lutz dysplasia//lewandowsky-lutz syndrome//lutz-lewandowsky epidermodysplasia verruciformis	CIB1;TMC8;IL7;TMC6	CIB1;TMC8;IL7;TMC6	https://raresource.nih.gov/literature/disease/0006357	0006357		302	C0014522	D004819	calcium and integrin binding 1; transmembrane channel like 8; interleukin 7; transmembrane channel like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermodysplasia verruciformis"	837
Primary erythromelalgia	erythermalgia, primary//erythromelalgia type ii//perythm//primary erythermalgia//scn9a-related inherited erythromelalgia	SCN9A	SCN9A	https://raresource.nih.gov/literature/disease/0006377	0006377	133020	90026	C0014805		sodium voltage-gated channel alpha subunit 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary erythromelalgia"	112
Carcinoma of esophagus	carcinoma of the esophagus//carcinoma of the oesophagus//esophageal cancer//esophageal carcinoma//esophagus carcinoma//oesophageal carcinoma//oesophagus carcinoma	LZTS1;DCC;RNF6;TGFBR2;WWOX	LZTS1;DCC;RNF6;TGFBR2;WWOX	https://raresource.nih.gov/literature/disease/0006383	0006383	133239	70482	C0152018		leucine zipper tumor suppressor 1; DCC netrin 1 receptor; ring finger protein 6; transforming growth factor beta receptor 2; WW domain containing oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carcinoma of esophagus"	30432
Ewing sarcoma	es//ewing tumor//ewing's family localised tumour//ewing's family localized tumor//ewing's sarcoma//ewing's tumor//ewing's tumour//ewings sarcoma//osseous ewing sarcoma//pnet of thoracopulmonary region//skeletal ewing sarcoma	EWSR1	EWSR1	https://raresource.nih.gov/literature/disease/0006390	0006390	612219	319	C0553580	D012512	EWS RNA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ewing sarcoma"	6055
Fabry disease	alpha galactosidase deficiency//alpha-galactosidase a deficiency//alpha-galactosidase-a deficiency//anderson-fabry disease//angiokeratoma corporis diffusum//angiokeratoma corporis diffusum universale//atypical variants of fabry disease//cardiovasorenal syndrome//ceramide lactoside lipidosis//ceramide trihexosidase deficiency//ceramide trihexosidosis//classic fabry disease//deficiency of alpha-galactosidase//deficiency of melibiase//diffuse angiokeratoma//fabry syndrome//fabry's disease//fd//gla deficiency//hereditary dystopic lipidosis//lactosyl ceramidosis//ruiter-pompen syndrome//sweeley-klionsky disease//thesaurismosis hereditaria//thesaurismosis lipoidica	GLA	GLA	https://raresource.nih.gov/literature/disease/0006400	0006400	301500	324	C0002986	D000795	galactosidase alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fabry disease"	9385
Hereditary factor X deficiency disease	congenital factor x deficiency//congenital stuart factor deficiency//disease, stuart-prower//hereditary factor x deficiency//hereditary stuart factor deficiency disease//hereditary stuart-prower deficiency disease	F10	F10	https://raresource.nih.gov/literature/disease/0006404	0006404		328	C0272327		coagulation factor X	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary factor X deficiency disease"	82
Bilateral striopallidodentate calcinosis	basal ganglia calcification//basal ganglia degeneration with calcification//bspdc//cerebrovascular ferrocalcinosis//idiopathic basal ganglia calcification//pfbc//primary familial brain calcification	NAA60;JAM2;PDGFB;XPR1;PDGFRB;MYORG;CMPK2;SLC20A2	NAA60;JAM2;PDGFB;XPR1;PDGFRB;MYORG;CMPK2;SLC20A2	https://raresource.nih.gov/literature/disease/0006406	0006406		1980	CN263207	C536275	N-alpha-acetyltransferase 60, NatF catalytic subunit; junctional adhesion molecule 2; platelet derived growth factor subunit B; xenotropic and polytropic retrovirus receptor 1; platelet derived growth factor receptor beta; myogenesis regulating glycosidase; cytidine/uridine monophosphate kinase 2; solute carrier family 20 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral striopallidodentate calcinosis"	545
Familial Mediterranean fever	benign paroxysmal peritonitis//benign recurrent polyserositis//familial mediterranean fever type 1//familial mediterranean fever type 2//familial paroxysmal polyserositis//familial recurrent polyserositis//fiebre mediterránea familiar//fmf//fmf - familial mediterranean fever//mef - familial mediterranean fever//paroxysmal polyserositis//periodic disease//periodic familial peritonitis//periodic peritonitis//periodic polyserositis//polyserositis, familial paroxysmal//polyserositis, recurrent//recurrent polyserositis	MEFV	MEFV	https://raresource.nih.gov/literature/disease/0006421	0006421		342	C0031069	D010505	MEFV innate immunity regulator, pyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial Mediterranean fever"	4855
Fanconi anemia	fa//fanconi pancytopenia//fanconi pancytopenia syndrome//fanconi panmyelopathy//fanconi's anaemia//fanconi's anemia//fanconi's familial refractory anemia//fanconi's hypoplastic anemia//pancytopenia, congenital//panmyelopathy, fanconi//primary erythroid hypoplasia	FANCI;ERCC4;RAD51C;FANCE;SLX4;FANCF;UBE2T;FANCM;XRCC2;RAD51;FANCG;RFWD3;FANCL;BRCA2;MAD2L2;FANCD2;FANCA;FANCB;FANCC;BRCA1;BRIP1;PALB2	FANCI;ERCC4;RAD51C;FANCE;SLX4;FANCF;UBE2T;FANCM;XRCC2;RAD51;FANCG;RFWD3;FANCL;BRCA2;MAD2L2;FANCD2;FANCA;FANCB;FANCC;BRCA1;BRIP1;PALB2	https://raresource.nih.gov/literature/disease/0006425	0006425		84	C0015625	D005199	FA complementation group I; ERCC excision repair 4, endonuclease catalytic subunit; RAD51 paralog C; FA complementation group E; SLX4 structure-specific endonuclease subunit; FA complementation group F; ubiquitin conjugating enzyme E2 T; FA complementation group M; X-ray repair cross complementing 2; RAD51 recombinase; FA complementation group G; ring finger and WD repeat domain 3; FA complementation group L; BRCA2 DNA repair associated; mitotic arrest deficient 2 like 2; FA complementation group D2; FA complementation group A; FA complementation group B; FA complementation group C; BRCA1 DNA repair associated; BRCA1 interacting DNA helicase 1; partner and localizer of BRCA2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia"	7361
Farber lipogranulomatosis	ac deficiency//acid ceramidase deficiency//acylsphingosine deacylase deficiency//ceramidase deficiency//disseminated lipogranulomatosis//farber disease//farber's disease//farber's lipogranulomatosis//farber-uzman syndrome//frbrl//n-laurylsphingosine deacylase deficiency	ASAH1	ASAH1	https://raresource.nih.gov/literature/disease/0006426	0006426	228000	333	C0268255	D055577	N-acylsphingosine amidohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Farber lipogranulomatosis"	234
Fatal familial insomnia	familial fatal insomnia//ffi//ffi - familial fatal insomnia	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0006429	0006429	600072	466	C0206042	D034062	prion protein (Kanno blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal familial insomnia"	466
Progressive myositis ossificans	diffuse progressive ossifying polymyositis//fibrodysplasia ossificans congenita//fibrodysplasia ossificans progressiva//fop//fop - fibrodysplasia ossificans progressiva//myositis ossificans progressiva//münchmeyer disease//progressive ossifying myositis//stone man syndrome	ACVR1	ACVR1	https://raresource.nih.gov/literature/disease/0006445	0006445	135100	337	C0016037		activin A receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myositis ossificans"	1201
Severe primary trimethylaminuria	tmau	FMO3	FMO3	https://raresource.nih.gov/literature/disease/0006447	0006447	602079	468726	C5575503	C536561	flavin containing dimethylaniline monoxygenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe primary trimethylaminuria"	38
Fish-eye disease	alpha-lcat deficiency//dyslipoproteinemic corneal dystrophy//fed//fed - fish-eye disease//lcata deficiency//partial lcat (lecithin-cholesterol acyltransferase) deficiency//partial lcat deficiency	LCAT	LCAT	https://raresource.nih.gov/literature/disease/0006450	0006450	136120	79292	C0342895		lecithin-cholesterol acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fish-eye disease"	451
Floating-Harbor syndrome	flhs//pelletier-leisti syndrome//short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes	SRCAP	SRCAP	https://raresource.nih.gov/literature/disease/0006455	0006455	136140	2044	C0729582	C537062	Snf2 related CREBBP activator protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Floating-Harbor syndrome"	93
Focal dermal hypoplasia	fdh//fdh - focal dermal hypoplasia//focal dermal hypoplasia, x-linked dominant//fodh - focal dermal hypoplasia//goltz syndrome//goltz-gorlin syndrome	PORCN	PORCN	https://raresource.nih.gov/literature/disease/0006457	0006457	305600	2092	C0016395	D005489	porcupine O-acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal dermal hypoplasia"	455
Fragile X syndrome	fra(x) syndrome//fragile x intellectual disability syndrome//fragile x mental retardation syndrome//fragile x syndrome, type a//fragile x syndrome, x-linked dominant//frax syndrome//fraxa (fragile x) syndrome//fraxa syndrome//fxs//marker x syndrome//martin-bell syndrome//mental retardation, x-linked, associated with marxq28//x-linked mental retardation and macroorchidism	FMR1	FMR1	https://raresource.nih.gov/literature/disease/0006464	0006464	300624	908	C0016667	D005600	fragile X messenger ribonucleoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fragile X syndrome"	6106
Cryptophthalmos syndrome	cryptophthalmos with other malformations//cryptophthalmos, defect of auricle and genital anomaly//cryptophthalmos-syndactyly syndrome//fraser syndrome	FRAS1;GRIP1;FREM2	FRAS1;GRIP1;FREM2	https://raresource.nih.gov/literature/disease/0006465	0006465		2052	C0265233	D058497	Fraser extracellular matrix complex subunit 1; glutamate receptor interacting protein 1; FRAS1 related extracellular matrix 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cryptophthalmos syndrome"	240
Freeman-Sheldon syndrome	arthrogryposis, distal, type 2a//arthrogryposis, distal, type 2a (freeman-sheldon)//cranio-carpo-tarsal syndrome//craniocarpotarsal dysplasia//craniocarpotarsal dystrophy//da2a//distal arthrogryposis type 2a//freeman-burian syndrome//whistling face syndrome//whistling face-windmill vane hand syndrome//whistling-face syndrome//windmill-vane-hand syndrome	MYH3	MYH3	https://raresource.nih.gov/literature/disease/0006466	0006466	193700	2053	C0265224	C535483	myosin heavy chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Freeman-Sheldon syndrome"	233
Essential fructosuria	benign fructosemia//deficiency of fructokinase//deficiency of ketohexokinase//ef - essential fructosemia//essential benign fructosuria//essential fructosemia//fructokinase deficiency//fructosuria//fructosuria, essential//hepatic fructokinase deficiency//ketohexokinase deficiency	KHK	KHK	https://raresource.nih.gov/literature/disease/0006471	0006471	229800	2056	C0268160	C538068	ketohexokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Essential fructosuria"	55
Fucosidosis	a-fucosidase deficiency//alpha fucosidase deficiency//alpha-l-fucosidase deficiency//fucosidase deficiency	FUCA1	FUCA1	https://raresource.nih.gov/literature/disease/0006473	0006473	230000	349	C0016788	D005645	alpha-L-fucosidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fucosidosis"	329
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	cerebromuscular dystrophy, fukuyama type//congenital muscular dystrophy, fukuyama type//congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a4//fcmd//fktn-related congenital muscular dystrophy//fukuyama congenital muscular dystrophy//fukuyama muscular dystrophy//fukuyama type congenital muscular dystrophy//mddga4//muscle-eye-brain-fktn related//muscular dystrophy, congenital progressive, with mental retardation//muscular dystrophy, congenital, with central nervous system involvement//walker-warburg syndrome or muscle-eye-brain disease, fktn-related//walker-warburg syndrome, fktn-related	FKTN	FKTN	https://raresource.nih.gov/literature/disease/0006475	0006475	253800	272	C0410174		fukutin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	416
Fumarase deficiency	fmrd//fumarate hydratase deficiency//fumaric aciduria	FH	FH	https://raresource.nih.gov/literature/disease/0006476	0006476	606812	24	C0342770	C538191	fumarate hydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fumarase deficiency"	86
Infantile GM1 gangliosidosis	deficiency of beta-galactosidase isoenzymes a, b and c//gangliosidosis, generalized gm1, infantile form//gangliosidosis, generalized gm1, type 1//generalized gangliosidosis//gm1 gangliosidosis type 1//gm1-gangliosidosis, type i//gm>1< gangliosidosis, type 1//infantile gangliosidosis with bony involvement//norman-landing disease	GLB1	GLB1	https://raresource.nih.gov/literature/disease/0006479	0006479	230500	79255	C0268271		galactosidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile GM1 gangliosidosis"	99
Mucosa-associated lymphoma	extranodal marginal zone b-cell lymphoma//extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue//extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue (malt-lymphoma)//extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue//immunocytoma//lymphoma of mucosa-associated lymphoid tissue//lymphoma, malt, somatic//malt lymphoma//malt lymphoma, somatic//malt-lymphoma//maltoma//mucosa-associated lymphatic tissue lymphoma//mucosa-associated lymphoid tissue lymphoma	BCL10	BCL10	https://raresource.nih.gov/literature/disease/0006485	0006485	137245	52417	C0242647	D018442	BCL10 immune signaling adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucosa-associated lymphoma"	3238
Giant axonal neuropathy 1	gan//gan giant axonal neuropathy//gan1//giant axonal neuropathy 1, autosomal recessive//giant axonal neuropathy caused by mutation in gan//giant axonal neuropathy type 1	GAN	GAN	https://raresource.nih.gov/literature/disease/0006500	0006500	256850	643	C1850386		gigaxonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Giant axonal neuropathy 1"	134
Gigantism	genetic giant//giant//giantism//hypophyseal gigantism//infantile and juvenile forms of acromegaly//normal giant//pituitary gigantism//primordial giant	MEN1;AIP	MEN1;AIP	https://raresource.nih.gov/literature/disease/0006506	0006506		99725	C0017547	D005877	menin 1; AHR interacting HSP90 co-chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gigantism"	1153
Fibromatosis, gingival, 1	fibromatosis, gingival, type 1//gingival fibromatosis caused by mutation in sos1//hereditary gingival fibromatosis caused by mutation in sos1//sos1 gingival fibromatosis//sos1 hereditary gingival fibromatosis	SOS1	SOS1	https://raresource.nih.gov/literature/disease/0006509	0006509			C4551558		SOS Ras/Rac guanine nucleotide exchange factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 1"	191
Glioma	glial neoplasm//glial tumor//glial tumour//neoplasm of neuroglia//neoplasm of the neuroglia//neuroglial neoplasm//neuroglial tumor//neuroglial tumour//tumor of neuroglia//tumor of the neuroglia//tumour of neuroglia//tumour of the neuroglia	ERBB2;TP53;IDH1	ERBB2;TP53;IDH1	https://raresource.nih.gov/literature/disease/0006513	0006513	137800	182067	C0017638	D005910	erb-b2 receptor tyrosine kinase 2; tumor protein p53; isocitrate dehydrogenase (NADP(+)) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glioma"	10892
Anemia, nonspherocytic hemolytic, due to G6PD deficiency	anemia, congenital, nonspherocytic hemolytic, 1//anemia, congenital, nonspherocytic hemolytic, 1, g6pd deficient//class i g6pd deficiency//class i glucose-6-phosphate dehydrogenase deficiency//cnsha1//favism, susceptibility to//hemolytic anaemia due to g6pd deficiency//hemolytic anemia due to g6pd deficiency//hemolytic anemia, g6pd deficient (favism), x-linked dominant//severe hemolytic anaemia due to g6pd deficiency//severe hemolytic anemia due to g6pd deficiency	G6PD	G6PD	https://raresource.nih.gov/literature/disease/0006520	0006520	300908	466026	C2720289	C567533	glucose-6-phosphate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anemia, nonspherocytic hemolytic, due to G6PD deficiency"	1
Congenital glucose-galactose malabsorption	diarrhea 16//ggm//glucose-galactose malabsorption//monosaccharide malabsorption//sglt1 deficiency	SLC5A1	SLC5A1	https://raresource.nih.gov/literature/disease/0006521	0006521	606824	35710	C0268186	C562602	solute carrier family 5 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital glucose-galactose malabsorption"	4936
Glutaric aciduria, type 1	ga i//ga i - glutaric aciduria type 1//ga1//gcdh-gene related glutaryl-coenzyme a dehydrogenase deficiency//gcdhd//glutaric acidemia type 1//glutaric acidemia type i//glutaricacidemia type 1//glutaricaciduria, type i//glutaryl-coa dehydrogenase deficiency//glutaryl-coenzyme a dehydrogenase deficiency	GCDH	GCDH	https://raresource.nih.gov/literature/disease/0006522	0006522	231670	25	C0268595	C536833	glutaryl-CoA dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaric aciduria, type 1"	415
Multiple acyl-CoA dehydrogenase deficiency	electron transfer flavoprotein deficiency//electron transfer flavoprotein ubiquinone oxidoreductase deficiency//ethylmalonic-adipicaciduria//ga 2//ga ii//glutaric acidemia type 2//glutaric acidemia type ii//glutaric acidemia, type 2//glutaric aciduria type 2//glutaric aciduria type ii//glutaric aciduria, type 2//mad - multiple acyl-coa dehydrogenase deficiency//mad deficiency//madd//madd - multiple acyl-coa dehydrogenase deficiency//multiple acyl coenzyme a dehydrogenase deficiency	ETFB;ETFA;ETFDH	ETFB;ETFA;ETFDH	https://raresource.nih.gov/literature/disease/0006523	0006523	231680	26791	C0268596	D054069	electron transfer flavoprotein subunit beta; electron transfer flavoprotein subunit alpha; electron transfer flavoprotein dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple acyl-CoA dehydrogenase deficiency"	585
Glycogen storage disease, type V	glycogen storage disease caused by mutation in pygm//glycogen storage disease due to muscle glycogen phosphorylase deficiency//glycogen storage disease type 5//glycogen storage disease v//glycogenosis due to muscle glycogen phosphorylase deficiency//glycogenosis type 5//glycogenosis type v//glycogenosis, type 5//gsd due to muscle glycogen phosphorylase deficiency//gsd type 5//gsd type v//gsd v//gsd5//mcardle disease//mcardle type glycogen storage disease//mcardle's disease//muscle glycogen phosphorylase deficiency//myophosphorylase deficiency//myophosphorylase deficiency glycogenosis//pygm deficiency//pygm glycogen storage disease	PYGM	PYGM	https://raresource.nih.gov/literature/disease/0006528	0006528	232600	368	C0017924	D006012	glycogen phosphorylase, muscle associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease, type V"	1553
Glycogen storage disease, type VI	glycogen storage disease caused by mutation in pygl//glycogen storage disease due to liver glycogen phosphorylase deficiency//glycogen storage disease type 6//glycogen storage disease type 6, due to phosphorylation//glycogen storage disease vi//glycogenosis due to liver glycogen phosphorylase deficiency//glycogenosis type 6//glycogenosis type vi//gsd due to liver glycogen phosphorylase deficiency//gsd type 6//gsd type vi//gsd vi//gsd6//hepatic glycogen phosphorylase deficiency//hepatic phosphorylase deficiency//hepatophosphorylase deficiency glycogenosis//hers disease//hers' disease//liver glycogen phosphorylase deficiency//phosphorylase deficiency glycogen-storage disease of liver//pygl glycogen storage disease	PYGL	PYGL	https://raresource.nih.gov/literature/disease/0006529	0006529	232700	369	C0017925	D006013	glycogen phosphorylase L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease, type VI"	777
Metageria	acrogeria//acrogeria, gottron type//acrometageria//familial acrogeria//gottron syndrome	COL3A1	COL3A1	https://raresource.nih.gov/literature/disease/0006543	0006543	201200	2500	C0406584	C538187	collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metageria"	56
Greig cephalopolysyndactyly syndrome	gcps//greig cephalosyndactyly syndrome//greig syndrome//greig's syndrome//polysyndactyly with peculiar skull shape//polysyndactyly with peculiars skull shape	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0006550	0006550	175700	380	C0265306	C537300	GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Greig cephalopolysyndactyly syndrome"	1632
Ornithine aminotransferase deficiency	gacr//girate atrophy of the retina//gyrate atrophy//gyrate atrophy of choroid and retina//gyrate atrophy of choroid and retina with or without ornithinemia//gyrate atrophy of the choroid and/or retina//gyrate atrophy of the retina//hoga//hyperornithinemia//hyperornithinemia with gyrate atrophy of choroid and retina//hyperornithinemia-gyrate atrophy of choroid and retina syndrome//oat deficiency//okt deficiency//ornithine ketoacid aminotransferase deficiency//ornithinemia with gyrate atrophy	OAT	OAT	https://raresource.nih.gov/literature/disease/0006556	0006556	258870	414	C0018425	D015799	ornithine aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ornithine aminotransferase deficiency"	379
Factor XII deficiency disease	congenital factor xii deficiency//congenital hageman factor deficiency//deficiency, hageman//f12 deficiency//factor xii deficiency//haf deficiency//hageman factor deficiency//reduced factor xii activity	F12	F12	https://raresource.nih.gov/literature/disease/0006558	0006558	234000	330	C0015526	D005175	coagulation factor XII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor XII deficiency disease"	1509
Familial benign pemphigus	benign chronic familial pemphigus of hailey-hailey//benign chronic pemphigus//benign familial chronic pemphigus//familial benign chronic pemphigus//hailey hailey disease//hailey-hailey disease//hhd//pemphigus, benign familial	ATP2C1	ATP2C1	https://raresource.nih.gov/literature/disease/0006559	0006559	169600	2841	C0085106	D016506	ATPase secretory pathway Ca2+ transporting 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial benign pemphigus"	1279
Hairy cell leukemia	classic hairy cell leukemia//hairy cell leukemia (clinical)//hcl//hcl - hairy cell leukemia//hcl-c//leukemic reticuloendotheliosis//lre - leukemic reticuloendotheliosis	BRAF	BRAF	https://raresource.nih.gov/literature/disease/0006560	0006560		58017	C0023443	D007943	B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hairy cell leukemia"	3872
Pigmentary pallidal degeneration	hallervorden-spatz disease//hallervorden-spatz syndrome//harp syndrome//nbia1//neuroaxonal dystrophy, late infantile//neurodegeneration with brain iron accumulation 1//neurodegeneration with brain iron accumulation type 1//pantothenate kinase-associated neurodegeneration//pigmentary pallidal atrophy//pkan//pkan neuroaxonal dystrophy, juvenile-onset	PANK2	PANK2	https://raresource.nih.gov/literature/disease/0006564	0006564	234200	157850	C0018523	D006211	pantothenate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmentary pallidal degeneration"	727
Autosomal recessive congenital ichthyosis 4B	arci4b//autosomal recessive congenital ichthyosis type 4b//harlequin fetus//harlequin ichthyosis//harlequin type ichthyosis congenita//harlequin type ichthyosis fetalis//hi//ichthyosis , congenital, autosomal recessive 4b (harlequin)//ichthyosis congenita, harlequin fetus type//ichthyosis congenita, harlequin type//ichthyosis fetalis, harlequin type//ichthyosis, congenital, autosomal recessive 4b (harlequin)//ichthyosis, congenital, autosomal recessive type 4b	ABCA12	ABCA12	https://raresource.nih.gov/literature/disease/0006568	0006568	242500	457	C0598226		ATP binding cassette subfamily A member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 4B"	3245
Neutral 1 amino acid transport defect	aminoaciduria, hartnup type//deficiency of tryptophan oxygenase//hartnup disease//hartnup disorder//hnd//neutral amino acid transport defect	SLC6A19	SLC6A19	https://raresource.nih.gov/literature/disease/0006569	0006569	234500	2116	C0018609	D006250	solute carrier family 6 member 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutral 1 amino acid transport defect"	171
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	aec - ankyloblepharon, ectodermal defects, cleft lip and palate//aec syndrome//ankyloblepharon, ectodermal defects, cleft lip and palate//ankyloblepharon-ectodermal defects, cleft lip/palate//ankyloblepharon-ectodermal defects-cleft lip and palate syndrome//ankyloblepharon-ectodermal dysplasia-clefting syndrome//hay wells syndrome of ectodermal dysplasia//hay-wells syndrome//hay-wells syndrome of ectodermal dysplasia	TP63	TP63	https://raresource.nih.gov/literature/disease/0006571	0006571	106260	1071	C0406709	C535847	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"	1104
Sickle cell-hemoglobin C disease	double heterozygous for hb s and hb d//hbs-hbc disease//hbsc disease//hemoglobin s-c disease//hemoglobin s/c//hemoglobin s/c disease//hemoglobin sc//sickle cell anemia with hemoglobin c disease//sickle cell hemoglobin c//sickle cell-hemoglobin c disease syndrome	HBB	HBB	https://raresource.nih.gov/literature/disease/0006584	0006584		251365	C0019034	D006450	hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sickle cell-hemoglobin C disease"	713
Familial hemophagocytic lymphohistiocytosis	familial erythrophagocytic lymphohistiocytosis//familial hemophagocytic histiocytosis//familial hemophagocytic reticulosis//familial histiocytic reticulosis//familial hlh//fel - familial erythrophagocytic lymphohistiocytosis//fhl//fhl - familial hemophagocytic lymphohistiocytosis//genetic hemophagocytic lymphohistiocytosis//genetic hemophagocytic syndrome//hereditary hemophagocytic lymphohistiocytosis//primary hemophagocytic lymphohistiocytosis	UNC13D;STXBP2;STX11;PRF1	UNC13D;STXBP2;STX11;PRF1	https://raresource.nih.gov/literature/disease/0006589	0006589		540	C0272199		unc-13 homolog D; syntaxin binding protein 2; syntaxin 11; perforin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hemophagocytic lymphohistiocytosis"	823
Hereditary factor VIII deficiency disease	ahg deficiency disease//autosomal hemophilia a//classical hemophilia//congenital f8 deficiency//congenital factor viii deficiency//congenital factor viii deficiency disease//congenital factor viii disorder//congenital fviii deficiency//factor 8 deficiency, congenital//factor viii deficiency//haemophilia a, x-linked recessive//haemophilia type a//hem a//hema//hemophilia a//hemophilia a, congenital//hemophilia a, x-linked recessive//hemophilia type a//hemophilia, classic//hereditary factor viii deficiency//sex-linked factor viii deficiency//subhemophilia	F8	F8	https://raresource.nih.gov/literature/disease/0006591	0006591	306700	98878	C0019069	D006467	coagulation factor VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary factor VIII deficiency disease"	4050
Essential thrombocythemia	essential hemorrhagic thrombocythemia//essential thrombocytemia//essential thrombocythaemia//essential thrombocythemia (clinical disorder)//essential thrombocytosis//et//hemorrhagic thrombocythemia//idiopathic hemorrhagic thrombocythemia//idiopathic thrombocythemia//primary thrombocythemia//primary thrombocytosis//suspected essential thromboythemia	SH2B3;CALR;MPL;JAK2	SH2B3;CALR;MPL;JAK2	https://raresource.nih.gov/literature/disease/0006594	0006594		3318	C0040028	D013920	SH2B adaptor protein 3; calreticulin; MPL proto-oncogene, thrombopoietin receptor; Janus kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Essential thrombocythemia"	8614
Adult hepatocellular carcinoma	adult hcc//adult hcc (hepatocellular carcinoma)//adult hepatoma//adult primary carcinoma of liver cell//adult primary carcinoma of the liver cell//adult primary hepatocellular carcinoma//adult primary hepatoma//adult primary liver cell carcinoma//hepatocellular carcinoma of adults	CASP8;PIK3CA;AXIN1	CASP8;PIK3CA;AXIN1	https://raresource.nih.gov/literature/disease/0006608	0006608		210159	C0279607		caspase 8; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; axin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult hepatocellular carcinoma"	22
Hereditary coproporphyria	berger-goldberg syndrome//coproporphyrinogen oxidase deficiency//cpo - coproporphyrinogen oxidase deficiency//cpo deficiency//cpox deficiency//cpro deficiency//cpx deficiency//hcp//hcp - hereditary coproporphyria//hereditary coproporphyria porphyria//porphyria hepatica coproporphyria//porphyria hepatica ii	CPOX	CPOX	https://raresource.nih.gov/literature/disease/0006619	0006619	121300	79273	C0162531	D046349	coproporphyrinogen oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary coproporphyria"	540
Hereditary elliptocytosis	congenital elliptocytosis//hashimoto encephalopathy//he//he - hereditary elliptocytosis//hereditary ovalocytosis//ovalocytosis	SPTA1;EPB41;GYPC;SPTB	SPTA1;EPB41;GYPC;SPTB	https://raresource.nih.gov/literature/disease/0006621	0006621		288	C0013902	D004612	spectrin alpha, erythrocytic 1; erythrocyte membrane protein band 4.1; glycophorin C (Gerbich blood group); spectrin beta, erythrocytic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary elliptocytosis"	4761
Hereditary fructosuria	aldb - aldolase b deficiency//aldb deficiency//aldob deficiency//aldolase b deficiency//fructosaemia//fructose intolerance//fructose intolerance, hereditary//fructose malabsorption//fructose-1,6-bisphosphate aldolase b deficiency//fructose-1-phosphate aldolase deficiency//fructose-biphosphate aldolase b deficiency//fructosemia//hereditary fructose intolerance//hereditary fructose intolerance syndrome//hereditary fructose-1-phosphate aldolase deficiency//hereditary fructosemia	ALDOB	ALDOB	https://raresource.nih.gov/literature/disease/0006622	0006622	229600	469	C0016751	D005633	aldolase, fructose-bisphosphate B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary fructosuria"	12058
Hereditary hemorrhagic telangiectasia	hht//hht - hereditary hemorrhagic telangiectasia//orw disease//osler hemorrhagic telangiectasia syndrome//osler weber rendu syndrome//osler-rendu-weber disease//osler-rendu-weber syndrome//osler-weber-rendu disease//rendu-osler disease//rendu-osler-weber disease//telangiectasia, hereditary hemorrahagic, of rendu, osler//telangiectasia, hereditary hemorrhagic	GDF2;SMAD4;ACVRL1;ENG	GDF2;SMAD4;ACVRL1;ENG	https://raresource.nih.gov/literature/disease/0006626	0006626		774	C0039445	D013683	growth differentiation factor 2; SMAD family member 4; activin A receptor like type 1; endoglin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hemorrhagic telangiectasia"	3525
Hereditary pancreatitis	familial chronic pancreatitis//hereditary chronic pancreatitis//pctt	PRSS1;CFTR;CTRC;SPINK1;PRSS2	PRSS1;CFTR;CTRC;SPINK1;PRSS2	https://raresource.nih.gov/literature/disease/0006632	0006632	167800	676	C0238339	C537262	serine protease 1; CF transmembrane conductance regulator; chymotrypsin C; serine peptidase inhibitor Kazal type 1; serine protease 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary pancreatitis"	591
Hereditary sensory and autonomic neuropathy type 1	acrodystrophic neuropathy//autosomal dominant sensory neuropathy//dominant hereditary sensory neuropathy, type i//hereditary sensory and autonomic neuropathy type i//hereditary sensory and autonomic neuropathy, type i//hereditary sensory neuropathy type i//hsan 1//hsan1//hsn type i	ATL3;ATL1;SPTLC1;SPTLC2	ATL3;ATL1;SPTLC1;SPTLC2	https://raresource.nih.gov/literature/disease/0006635	0006635		36386	C0020071		atlastin GTPase 3; atlastin GTPase 1; serine palmitoyltransferase long chain base subunit 1; serine palmitoyltransferase long chain base subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 1"	108
Hereditary spherocytosis	congenital spherocytic hemolytic anaemia//congenital spherocytic hemolytic anemia//congenital spherocytosis//familial acholuric jaundice//familial spherocytosis//hs - hereditary spherocytosis//minkowski chauffard syndrome//minkowski-chauffard disease//minkowsky-chauffard syndrome//sph//spherocytic anaemia//spherocytic anemia	ANK1;SPTB;EPB42;SLC4A1;SPTA1	ANK1;SPTB;EPB42;SLC4A1;SPTA1	https://raresource.nih.gov/literature/disease/0006639	0006639		822	C0037889	D013103	ankyrin 1; spectrin beta, erythrocytic; erythrocyte membrane protein band 4.2; solute carrier family 4 member 1 (Diego blood group); spectrin alpha, erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis"	2355
Herpes simplex encephalitis	encephalitis caused by herpesviridae//encephalitis caused by herpesvirus//encephalitis, herpes simplex//herpes encephalitis//herpes simplex meningo-encephalitis//herpes simplex neuroinvasion//herpes simplex virus encephalitis//herpetic encephalitis//hse//hsv encephalitis//hsve//simplexvirus caused infectious encephalitis//simplexvirus infectious encephalitis	UNC93B1	UNC93B1	https://raresource.nih.gov/literature/disease/0006649	0006649	610551	1930	C0276226	D020803	unc-93 homolog B1, TLR signaling regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Herpes simplex encephalitis"	3033
Aganglionic megacolon	aganglionosis//colonic aganglionosis//congenital aganglionic megacolon//congenital intestinal aganglionosis//congenital megacolon//enlarged colon lacking nerve cells//hd - hirschsprung's disease//hirschsprung disease//hirschsprung disease susceptibility//hirschsprung megacolon//hirschsprung's disease//hscr//pelvirectal achalasia	SREBF1;ATP7A;ERBB2;ABCD1;ERBB3;SMO;RET	SREBF1;ATP7A;ERBB2;ABCD1;ERBB3;SMO;RET	https://raresource.nih.gov/literature/disease/0006660	0006660		388	C0019569	D006627	sterol regulatory element binding transcription factor 1; ATPase copper transporting alpha; erb-b2 receptor tyrosine kinase 2; ATP binding cassette subfamily D member 1; erb-b2 receptor tyrosine kinase 3; smoothened, frizzled class receptor; ret proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aganglionic megacolon"	572
Histidinemia	deficiency of histidase//deficiency of histidinase//deficiency of histidine a-deaminase//deficiency of histidine ammonia-lyase//hal deficiency//high blood histidine level//his deficiency//histidase deficiency//histidine ammonia-lyase deficiency//histidinuria//hyperhistidinemia	HAL	HAL	https://raresource.nih.gov/literature/disease/0006661	0006661	235800	2157	C0220992	C538320	histidine ammonia-lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Histidinemia"	152
Holt-Oram syndrome	atriodigital dysplasia type 1//cardiac-limb syndrome//heart-hand syndrome type 1//heart-hand syndrome, type 1//hos//tbx5-related holt-oram syndrome//ventriculo-radial syndrome	TBX5	TBX5	https://raresource.nih.gov/literature/disease/0006666	0006666	142900	392	C0265264	C535326	T-box transcription factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holt-Oram syndrome"	564
Classic homocystinuria	cbs deficiency//cystathionine beta-synthase deficiency//deficiency of beta-thionase//deficiency of methylcysteine synthase//deficiency of serine sulfhydrase//homocystinuria due to cbs deficiency//homocystinuria due to cystathionine beta-synthase deficiency//homocystinuria with or without response to pyridoxine//homocystinuria, b6-responsive and nonresponsive types//thrombosis, hyperhomocysteinemic	CBS	CBS	https://raresource.nih.gov/literature/disease/0006667	0006667	236200	394	C0751202		cystathionine beta-synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic homocystinuria"	307
Mucopolysaccharidosis, MPS-II	attenuated mps (subtype; formerly known as mild mps ii)//deficiency of iduronate-2-sulfatase//deficiency of iduronate-2-sulphatase//hunter disease//hunter syndrome//hunter's syndrome//i2s deficiency//ids deficiency//iduronate 2-sulfatase deficiency//iduronate sulfatase deficiency//mps 2//mps 2 - mucopolysaccharidosis 2//mps ii//mps ii - hunter syndrome//mps with skin involvement//mps2//mpsii//mpsii - mucopolysaccharidosis type ii//mucopolysaccharidosis ii//mucopolysaccharidosis ii, x-linked recessive//mucopolysaccharidosis type 2//mucopolysaccharidosis type ii//mucopolysaccharidosis with skin involvement//mucopolysaccharidosis, type 2//mucopolysaccharidosis, type ii//severe mps ii//sids deficiency//sulfo-iduronate sulfatase deficiency//sulfoiduronate sulfatase deficiency//sulfoiduronidate sulfatase deficiency	IDS	IDS	https://raresource.nih.gov/literature/disease/0006675	0006675	309900	580	C0026705	D016532	iduronate 2-sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-II"	1202
Huntington disease	chronic progressive chorea//chronic progressive hereditary chorea//hc - huntington chorea//hd//hd - huntington chorea//huntington chorea//huntington's chorea//huntington's disease	HTT	HTT	https://raresource.nih.gov/literature/disease/0006677	0006677	143100	399	C0020179	D006816	huntingtin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huntington disease"	33628
Hydranencephaly	congenital absence of cerebral hemispheres//hydrancephaly//hydranencephaly (disease)	NDE1	NDE1	https://raresource.nih.gov/literature/disease/0006681	0006681		2177	C0020225	D006832	nudE neurodevelopment protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydranencephaly"	479
Hydrolethalus syndrome	hydrolethalus//salonen-herva-norio syndrome	KIF7;HYLS1	KIF7;HYLS1	https://raresource.nih.gov/literature/disease/0006683	0006683		2189	C2931104	C536079	kinesin family member 7; HYLS1 centriolar and ciliogenesis associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrolethalus syndrome"	66
Familial type 3 hyperlipoproteinemia	apolipoprotein e deficiency//apolipoprotein e, deficiency or defect of//broad beta disease//broad-beta disease//broad-betalipoproteinemia//carbohydrate induced hyperlipemia//dysbetalipoproteinemia//dysbetalipoproteinemia due to defect in apolipoprotein e-d//dyslipidaemia type 3//dyslipidemia type 3//familial dysbetalipoproteinemia//familial dyslipidemia type 3//familial hyperbeta- and prebetalipoproteinemia//familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia//familial hypercholesterolemia with hyperlipemia//familial hyperlipoproteinemia type 3//floating beta disease//floating-betalipoproteinemia//fredrickson type iii hyperlipoproteinemia//hlp type 3//hyperlipemia with familial hypercholesterolemic xanthomatosis//hyperlipidemia type 3//hyperlipoproteinemia type 3//hyperlipoproteinemia type iii//primary dysbetalipoproteinemia//remnant disease//remnant hyperlipidemia//remnant hyperlipoproteinemia//remnant removal disease	APOE	APOE	https://raresource.nih.gov/literature/disease/0006703	0006703	617347	412	C0020479	D006952	apolipoprotein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial type 3 hyperlipoproteinemia"	351
Familial type 5 hyperlipoproteinemia	familial apoa5 deficiency//familial apolipoprotein a-v deficiency//familial apolipoprotein a5 deficiency//familial hyperlipoproteinemia type v//familial type v hyperlipoproteinemia//fredrickson type v hyperlipoproteinemia//fredrickson type v lipaemia//hlp type 5//hyperchylomicronemia with hyperprebetalipoproteinemia, familial//hyperlipoproteinemia type v//major hyperlipidemia	APOA5	APOA5	https://raresource.nih.gov/literature/disease/0006704	0006704	144650	530849	C0020481	D006954	apolipoprotein A5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial type 5 hyperlipoproteinemia"	18
Hyperprolinemia type 2	1-pyrroline-5-carboxylate dehydrogenase activity disease//1-pyrroline-5-carboxylate dehydrogenase deficiency//aldh4a1 hyperprolinemia//deficiency of pyrroline-5-carboxylate reductase//delta'-pyrroline-5-carboxylate dehydrogenase deficiency//delta-1-pyrroline-5-carboxylate dehydrogenase deficiency//delta1-pyrroline-5-carboxylate dehydrogenase deficiency//disorder of 1-pyrroline-5-carboxylate dehydrogenase activity//hyperprolinemia caused by mutation in aldh4a1//hyperprolinemia type ii//hyperprolinemia, type ii//hyrpro2//pyrroline-5-carboxylate reductase deficiency	ALDH4A1	ALDH4A1	https://raresource.nih.gov/literature/disease/0006710	0006710	239510	79101	C2931835	C538385	aldehyde dehydrogenase 4 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperprolinemia type 2"	25
Hypochondroplasia	hch//hypochondrodysplasia	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0006724	0006724	146000	429	C0410529	C562937	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypochondroplasia"	414
Hypocomplementemic urticarial vasculitis	anti-c1q vasculitis//hypocomplementemic vasculitis//mac duffie hypocomplementemic urticarial vasculitis//mac duffie syndrome//mcduffie hypocomplementemic urticarial vasculitis//mcduffie syndrome	DNASE1L3	DNASE1L3	https://raresource.nih.gov/literature/disease/0006725	0006725		36412	C0343206		deoxyribonuclease 1L3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypocomplementemic urticarial vasculitis"	115
Hypokalemic periodic paralysis	familial hypokalemic periodic paralysis//familial periodic paralysis (& [hypokalaemic])//hkpp//hokpp//hokpp - hypokalemic periodic paralysis//hypokalemic familial periodic paralysis//hypopp//periodic hypokalemic paralysis//periodic paralysis i//westphall disease	CACNA1S;SCN4A	CACNA1S;SCN4A	https://raresource.nih.gov/literature/disease/0006729	0006729		681	C0238358	D020514	calcium voltage-gated channel subunit alpha1 S; sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypokalemic periodic paralysis"	725
Hypophosphatasia	alkaline phosphatase deficiency//deficiency of alkaline phosphatase//deficiency of alkaline phosphatase (disorder) [ambiguous]//hpp//phosphoethanol-aminuria//phosphoethanolaminuria//rathbun disease//rathburn disease	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0006734	0006734		436	C0020630	D007014	alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypophosphatasia"	1476
Panhypopituitarism, X-linked	phpx//pituitary dwarfism iv//x-linked panhypopituitarism	SOX3	SOX3	https://raresource.nih.gov/literature/disease/0006737	0006737	312000		C0342376	C538613	SRY-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Panhypopituitarism, X-linked"	3
Mucolipidosis type II	i cell disease//i-cell disease//inclusion cell disease//leroy disease//ml 2//ml disorder type 2//ml ii alpha/beta//mucolipidosis 2//mucolipidosis ii//mucolipidosis type ii alpha/beta//n-acetylglucosamine 1-phosphotransferase deficiency//n-acetylglucosamine 1phosphotransferase deficiency	GNPTAB	GNPTAB	https://raresource.nih.gov/literature/disease/0006749	0006749	252500	576	C2673377	C538602	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucolipidosis type II"	542
Ichthyosis vulgaris	dominant ichthyosis vulgaris//ichthyosis simplex	FLG	FLG	https://raresource.nih.gov/literature/disease/0006752	0006752	146700		C0079584	D016112	filaggrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis vulgaris"	459
Incontinentia pigmenti syndrome	bloch-siemens syndrome//bloch-sulzberger syndrome//incontinentia pigmenti//incontinentia pigmenti of bloch-sulzberger//incontinentia pigmenti, familial male-lethal type//incontinentia pigmenti, type ii//incontinentia pigmenti, x-linked dominant//ip//ip - incontinentia pigmenti	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0006778	0006778	308300	464	C0021171	D007184	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Incontinentia pigmenti syndrome"	4397
Right atrial isomerism	asplenia with cardiovascular anomalies//isomerism of right atrial appendage//ivemark syndrome//rai//right atrial isomerism (disease)//right atrial isomerism (ivemark)//right sided atrial isomerism	GDF1	GDF1	https://raresource.nih.gov/literature/disease/0006795	0006795	208530	97548	C3178806		growth differentiation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Right atrial isomerism"	201
Jackson-Weiss syndrome	craniosynostosis, midfacial hypoplasia, and foot abnormalities//craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome//jws	FGFR1;FGFR2	FGFR1;FGFR2	https://raresource.nih.gov/literature/disease/0006796	0006796	123150	1540	C0795998	C537559	fibroblast growth factor receptor 1; fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jackson-Weiss syndrome"	37
Autosomal recessive spondylocostal dysostosis	spondylocostal dysostosis, autosomal recessive	HES7;DLL3;RIPPLY2;LFNG;TBX6;MESP2	HES7;DLL3;RIPPLY2;LFNG;TBX6;MESP2	https://raresource.nih.gov/literature/disease/0006798	0006798		2311	CN043670	C535781	hes family bHLH transcription factor 7; delta like canonical Notch ligand 3; ripply transcriptional repressor 2; LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; T-box transcription factor 6; mesoderm posterior bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spondylocostal dysostosis"	7
Hyper-IgE recurrent infection syndrome 1, autosomal dominant	ad hyperimmunoglobulin e syndrome//ad-hies//autosomal dominant hies//autosomal dominant hyper ige syndrome//autosomal dominant hyper-ige syndrome//autosomal dominant hyper-ige syndrome due to stat3 deficiency//autosomal dominant hyperimmunoglobulin e syndrome//autosomal dominant hyperimmunoglobulin e syndrome due to signal transducer and activator of transcription 3 protein deficiency//buckley syndrome//hies autosomal dominant//hies, autosomal dominant//hyper ig e syndrome, autosomal dominant//hyper-ige recurrent infection syndrome 1//hyper-ige recurrent infection syndrome, autosomal dominant//hyper-ige syndrome 1, autosomal dominant, with recurrent infections//hyper-ige syndrome, autosomal dominant//hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant//hyperimmunoglobulin e syndrome type 1//hyperimmunoglobulin e-recurrent infection syndrome//immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist//job syndrome//job syndrome autosomal dominant//job's syndrome//stat3 deficiency	STAT3	STAT3	https://raresource.nih.gov/literature/disease/0006800	0006800	147060	2314	C2936739	C564135;C567925;D007589	signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgE recurrent infection syndrome 1, autosomal dominant"	411
Azorean disease	autosomal dominant striatonigral degeneration//azorean disease of the nervous system//azorean neurologic disease//machado disease//machado joseph disease//machado-joseph disease//mjd//mjd - machado-joseph disease//nigro-spino-dentatal degeneration with nuclear ophthalmoplegia//nigrospinodentatal degeneration//portuguese-azorean disease//sca3//spinocerebellar ataxia 3//spinocerebellar ataxia type 3//spinocerebellar atrophy iii//spinocerebellar atrophy type 3//spinopontine atrophy	ATXN3	ATXN3	https://raresource.nih.gov/literature/disease/0006801	0006801	109150	98757	C0024408	D017827	ataxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Azorean disease"	1715
Joubert syndrome	cerebelloparenchymal disorder iv//classic joubert syndrome//cpd iv//familial aplasia of the vermis//jbts//joubert syndrome type a//joubert-boltshauser syndrome//pure joubert syndrome	OFD1;KATNIP;KIAA0753;INPP5E;TCTN1;CSPP1;TMEM237;AHI1;TCTN3;CEP120;B9D2;ARMC9;B9D1;MKS1;SUFU;HYLS1;TMEM67;ARL3;PIBF1;IFT74;TCTN2;CPLANE1;TMEM218;PDE6D;CEP41;CBY1;TOGARAM1;KIAA0586;CEP104;ARL13B	OFD1;KATNIP;KIAA0753;INPP5E;TCTN1;CSPP1;TMEM237;AHI1;TCTN3;CEP120;B9D2;ARMC9;B9D1;MKS1;SUFU;HYLS1;TMEM67;ARL3;PIBF1;IFT74;TCTN2;CPLANE1;TMEM218;PDE6D;CEP41;CBY1;TOGARAM1;KIAA0586;CEP104;ARL13B	https://raresource.nih.gov/literature/disease/0006802	0006802		475	C0431399		OFD1 centriole and centriolar satellite protein; katanin interacting protein; KIAA0753; inositol polyphosphate-5-phosphatase E; tectonic family member 1; centrosome and spindle pole associated protein 1; transmembrane protein 237; Abelson helper integration site 1; tectonic family member 3; centrosomal protein 120; B9 domain containing 2; armadillo repeat containing 9; B9 domain containing 1; MKS transition zone complex subunit 1; SUFU negative regulator of hedgehog signaling; HYLS1 centriolar and ciliogenesis associated; transmembrane protein 67; ARF like GTPase 3; progesterone immunomodulatory binding factor 1; intraflagellar transport 74; tectonic family member 2; ciliogenesis and planar polarity effector complex subunit 1; transmembrane protein 218; phosphodiesterase 6D; centrosomal protein 41; chibby 1, beta catenin antagonist; TOG array regulator of axonemal microtubules 1; KIAA0586; centrosomal protein 104; ARF like GTPase 13B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome"	971
Infantile systemic hyalinosis		ANTXR2	ANTXR2	https://raresource.nih.gov/literature/disease/0006807	0006807		2176	C5574678		ANTXR cell adhesion molecule 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile systemic hyalinosis"	97
Juvenile myoclonic epilepsy	efhc1-related juvenile myoclonic epilepsy//ejm//epilepsy, myoclonic juvenile//janz syndrome//jme//jme - juvenile myoclonic epilepsy//juvenile myoclonus epilepsy//myoclonic epilepsy, juvenile//myoclonic epilepsy, juvenile, 1//petit mal, impulsive	EFHC1	EFHC1	https://raresource.nih.gov/literature/disease/0006808	0006808	254770	307	C0270853	D020190	EF-hand domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile myoclonic epilepsy"	1358
Kabuki syndrome	kabuki make up syndrome//kabuki make-up syndrome//kms//niikawa-kuroki syndrome	KMT2D;KDM6A	KMT2D;KDM6A	https://raresource.nih.gov/literature/disease/0006810	0006810		2322	C0796004	C537705	lysine methyltransferase 2D; lysine demethylase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kabuki syndrome"	382
Kearns-Sayre syndrome	chronic progressive external ophthalmoplegia with myopathy//chronic progressive external ophthalmoplegia with myopathy, somatic//cpeo with myopathy//cpeo with ragged red fibers//kearns-sayre mitochondrial cytopathy//kss - kearns-sayre syndrome//mitochondrial ocular myopathy//oculocraniosomatic syndrome//ophthalmoplegia plus syndrome//ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy//ophthalmoplegia, progressive external, with ragged red fibers	RRM2B	RRM2B	https://raresource.nih.gov/literature/disease/0006817	0006817	530000	480	C0022541	D007625	ribonucleotide reductase regulatory TP53 inducible subunit M2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kearns-Sayre syndrome"	818
Kennedy disease	kennedy spinal and bulbar muscular atrophy//kennedy's disease//sbma//smax1//spinal and bulbar muscular atrophy//spinal and bulbar muscular atrophy of kennedy, x-linked recessive//spinal and bulbar muscular atrophy, x-linked 1//spinal and bulbar muscular atrophy, x-linked type 1//spinal bulbar muscular atrophy//spinobulbar muscular atrophy//x-linked bsma//x-linked bulbo-spinal atrophy//x-linked bulbospinal amyotrophy//x-linked bulbospinal muscular atrophy//x-linked spinal and bulbar muscular atrophy	AR	AR	https://raresource.nih.gov/literature/disease/0006818	0006818	313200	481	C1839259	D055534	androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kennedy disease"	1093
Muir-Torré syndrome	cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas//mlh1-related muir-torre syndrome//mrtes//msh2-related muir-torre syndrome//muir-torre syndrome//multiple keratoacanthoma, muir-torre type//torre-muir syndrome//torré-muir syndrome	MLH1;MSH2	MLH1;MSH2	https://raresource.nih.gov/literature/disease/0006821	0006821	158320		C1321489	D055653	mutL homolog 1; mutS homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muir-Torré syndrome"	520
Keratosis follicularis spinulosa decalvans	keratosis follicularis spinulosa decalvans cum ophiasi//keratosis pilaris decalvans	MBTPS2;LRP1	MBTPS2;LRP1	https://raresource.nih.gov/literature/disease/0006829	0006829		2340	C0343057		membrane bound transcription factor peptidase, site 2; LDL receptor related protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis follicularis spinulosa decalvans"	63
Kniest dysplasia	kniest chondrodystrophy//kniest syndrome//swiss cheese cartilage dysplasia	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0006841	0006841	156550	485	C0265279	C537207	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kniest dysplasia"	110
Galactosylceramide beta-galactosidase deficiency	beta galactocerebrosidase deficiency//diffuse globoid body sclerosis//diffuse globoid cell cerebral sclerosis//galactocerebrosidase deficiency//galactocerebroside beta-galactosidase deficiency//galactosylceramidase deficiency//galactosylceramide lipidosis//galc deficiency//galc enzyme deficiency//gcl - globoid cell leucodystrophy//globoid cell leucodystrophy//globoid cell leukodystrophy//globoid cell leukoencephalopathy//krabbe disease//krabbe leucodystrophy//krabbe's disease//krabbe's leukodystrophy//leukodystrophy, globoid cell//leukodystrophy, krabbe's	GALC	GALC	https://raresource.nih.gov/literature/disease/0006844	0006844	245200	487	C0023521	D007965	galactosylceramidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galactosylceramide beta-galactosidase deficiency"	1245
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	autosomal recessive neuronal ceroid lipofuscinosis 4a//cln4a//cln6 neuronal ceroid lipofuscinosis//neuronal ceroid lipofuscinosis 4a//neuronal ceroid lipofuscinosis caused by mutation in cln6//neuronal ceroid lipofuscinosis type 4a	CLN6	CLN6	https://raresource.nih.gov/literature/disease/0006845	0006845	204300		C5561927		CLN6 transmembrane ER protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ceroid lipofuscinosis, neuronal, 6B (Kufs type)"	7
Levy-Hollister syndrome	lacrimo-auriculo-dento-digital syndrome//lacrimoauriculodento-digital syndrome//lacrimoauriculodentodigital syndrome//lacrimoauriculoradiodental syndrome//ladd//ladd syndrome//lard syndrome	FGFR2;FGF10;FGFR3	FGFR2;FGF10;FGFR3	https://raresource.nih.gov/literature/disease/0006848	0006848		2363	C0265269	C538132	fibroblast growth factor receptor 2; fibroblast growth factor 10; fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Levy-Hollister syndrome"	76
Landau-Kleffner syndrome	acquired aphasia with epilepsy//acquired epileptic aphasia//aphasia co-occurrent with epilepsy//aphasia, acquired, with epilepsy//epilepsy, focal, with speech disorder and with or without impaired intellectual development//epilepsy, focal, with speech disorder and with or without mental retardation//fesd//lks	GRIN2A	GRIN2A	https://raresource.nih.gov/literature/disease/0006855	0006855	245570	98818	C0282512	D018887	glutamate ionotropic receptor NMDA type subunit 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Landau-Kleffner syndrome"	9964
Langerhans cell histiocytosis	differentiated progressive histiocytosis//histiocytosis x//langerhans cell disease//langerhans cell granulomatosis//langerhans cell histiocytosis, nos//langerhans cell histiocytosis, not otherwise specified//lch//lch - langerhan's cell histiocytosis//letterer-siwe disease involving intra-abdominal lymph nodes//letterer-siwe disease involving intrapelvic lymph nodes//letterer-siwe disease involving intrathoracic lymph nodes//letterer-siwe disease involving lymph nodes of axilla and upper limb//letterer-siwe disease involving lymph nodes of head, face and neck//letterer-siwe disease involving lymph nodes of head, face, and neck//letterer-siwe disease involving lymph nodes of inguinal region and lower limb//letterer-siwe disease involving lymph nodes of multiple sites//letterer-siwe disease involving spleen//letterer-siwe disease of intra-abdominal lymph nodes//letterer-siwe disease of intrapelvic lymph nodes//letterer-siwe disease of intrathoracic lymph nodes//letterer-siwe disease of lymph nodes of axilla and upper limb//letterer-siwe disease of lymph nodes of axilla and/or upper limb//letterer-siwe disease of lymph nodes of head, face and neck//letterer-siwe disease of lymph nodes of head, face and/or neck//letterer-siwe disease of lymph nodes of inguinal region amd/or lower limb//letterer-siwe disease of lymph nodes of inguinal region and lower limb//letterer-siwe disease of lymph nodes of inguinal region and/or lower limb//letterer-siwe disease of lymph nodes of multiple sites//letterer-siwe disease of spleen	MAP2K1;BRAF;NRAS	MAP2K1;BRAF;NRAS	https://raresource.nih.gov/literature/disease/0006858	0006858	604856	389	C0019621	D006646	mitogen-activated protein kinase kinase 1; B-Raf proto-oncogene, serine/threonine kinase; NRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Langerhans cell histiocytosis"	5845
Laron-type isolated somatotropin defect	complete growth hormone insensitivity//gh receptor deficiency//growth hormone binding protein deficiency or dysfunction//growth hormone insensitivity//growth hormone receptor deficiency//growth hormone receptor deficiency or dysfunction//laron dwarfism//laron syndrome//laron type pituitary dwarfism i//laron-type dwarfism//laron-type pituitary dwarfism//pituitary dwarfism ii//primary gh insensitivity//primary gh resistance//primary growth hormone insensitivity//primary growth hormone resistance//short stature due to growth hormone resistance	GHR	GHR	https://raresource.nih.gov/literature/disease/0006859	0006859	262500	633	C0271568	D046150	growth hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laron-type isolated somatotropin defect"	561
Larsen syndrome	bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies//dominant larsen syndrome//lrs	FLNB	FLNB	https://raresource.nih.gov/literature/disease/0006860	0006860	150250	503	C0175778	C580241	filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Larsen syndrome"	279
Bardet-Biedl syndrome	bbs//biedl-bardet syndrome//lmbb - laurence-moon-bardet-biedl syndrome	WDPCP;MKS1;BBS4;TRIM32;BBS9;LZTFL1;BBS2;BBS10;CEP290;BBS7;BBIP1;BBS1;SCLT1;SDCCAG8;SCAPER;IFT74;NPHP1;BBS12;CFAP418;CEP19;BBS5;ARL6;IFT27;TTC8;IFT172;MKKS	WDPCP;MKS1;BBS4;TRIM32;BBS9;LZTFL1;BBS2;BBS10;CEP290;BBS7;BBIP1;BBS1;SCLT1;SDCCAG8;SCAPER;IFT74;NPHP1;BBS12;CFAP418;CEP19;BBS5;ARL6;IFT27;TTC8;IFT172;MKKS	https://raresource.nih.gov/literature/disease/0006866	0006866		110	C0752166	D020788	WD repeat containing planar cell polarity effector; MKS transition zone complex subunit 1; Bardet-Biedl syndrome 4; tripartite motif containing 32; Bardet-Biedl syndrome 9; leucine zipper transcription factor like 1; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 10; centrosomal protein 290; Bardet-Biedl syndrome 7; BBSome interacting protein 1; Bardet-Biedl syndrome 1; sodium channel and clathrin linker 1; SHH signaling and ciliogenesis regulator SDCCAG8; S-phase cyclin A associated protein in the ER; intraflagellar transport 74; nephrocystin 1; Bardet-Biedl syndrome 12; cilia and flagella associated protein 418; centrosomal protein 19; Bardet-Biedl syndrome 5; ARF like GTPase 6; intraflagellar transport 27; tetratricopeptide repeat domain 8; intraflagellar transport 172; MKKS centrosomal shuttling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome"	1507
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase//fatty liver, acute, of pregnancy//hellp syndrome, maternal, of pregnancy//lchad deficiency//lchadd//lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency	HADHA	HADHA	https://raresource.nih.gov/literature/disease/0006867	0006867	609016	5	C3711645		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	220
Leber optic atrophy	leber hereditary optic atrophy//leber hereditary optic neuropathy//leber optic atrophy features//leber optic degeneration//leber's disease//leber's hereditary optic neuropathy//leber's optic atrophy//lhon//lhon - leber hereditary optic neuropathy//lhon - leber's hereditary optic neuropathy//optic atrophy, hereditary, leber	MT-CYB;MT-ND5;MT-CO3;MT-ATP6;MT-ND2;MT-ND4L;MT-ND6;MT-ND4;MT-ND1	MT-CYB;MT-ND5;MT-CO3;MT-ATP6;MT-ND2;MT-ND4L;MT-ND6;MT-ND4;MT-ND1	https://raresource.nih.gov/literature/disease/0006870	0006870	535000	104	C0917796	D029242	mitochondrially encoded cytochrome b; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5; mitochondrially encoded cytochrome c oxidase III; mitochondrially encoded ATP synthase membrane subunit 6; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber optic atrophy"	2221
Legg-Calve-Perthes disease	aseptic necrosis of capital femoral epiphysis//aseptic necrosis of the capital femoral epiphysis//avascular necrosis of capital femoral epiphysis//avascular necrosis of the capital femoral epiphysis//calve - perthes' disease//coxa plana//juvenile osteochond-hip/pelvis//juvenile osteochondrosis of hip and pelvis//juvenile osteochondrosis of hip and/or pelvis//legg calvé perthes disease//legg-calve-perthes symptom//legg-calve-perthes syndrome//legg-calvé-perthes disease//legg-perthes disease//morbus legg-calve-perthes//osteochondritis deformans//osteochondritis of the capital femoral epiphysis//osteochondrosis of legg-calve-perthes//osteochondrosis of the capital femoral epiphysis//osteochondrosis of the femoral head//osteonecrosis of capital femoral epiphysis//osteonecrosis of the femoral head//perthe's disease//perthes disease//perthes disease of hip//perthes-like femoral head changes//pseudocoxalgia	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0006874	0006874	150600	2380	C1442965	D007873	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Legg-Calve-Perthes disease"	94
Leigh syndrome	infantile necrotizing encephalomyelopathy//infantile subacute necrotizing encephalopathy//juvenile subacute necrotizing encephalomyelopathy//leigh disease//leigh syndrome spectrum//leigh syndrome, nuclear//leigh's disease//leigh's necrotizing encephalopathy//leigh's syndrome//ls//lss//necrotizing encephalopathy infantile subacute of leigh//nuls//subacute necrotizing encephalopathy	IARS2	IARS2	https://raresource.nih.gov/literature/disease/0006877	0006877	256000	506	C2931891	D007888	isoleucyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leigh syndrome"	6747
Leprechaunism syndrome	donohue syndrome//donohue's syndrome//leprechaunism	INSR	INSR	https://raresource.nih.gov/literature/disease/0006885	0006885	246200	508	C0265344	D056731	insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leprechaunism syndrome"	2669
Leukocyte adhesion deficiency 1	itgb2 leukocyte adhesion deficiency//lad - leukocyte adhesion deficiency type 1//lad 1//lad-i//lad-type i//lad1//leukocyte adhesion deficiency - type 1//leukocyte adhesion deficiency caused by mutation in itgb2//leukocyte adhesion deficiency type 1//leukocyte adhesion deficiency type i//leukocyte adhesion deficiency, type i//leukocyte adhesion molecule deficiency - type 1//lfa 1 immunodeficiency//lfa-1 deficiency//lfa-i deficiency//lfa1 immunodeficiency//lymphocyte function-associated antigen 1 immunodeficiency//mo-1 deficiency	ITGB2	ITGB2	https://raresource.nih.gov/literature/disease/0006893	0006893	116920	99842	C0398738	C535887	integrin subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukocyte adhesion deficiency 1"	175
Lhermitte-Duclos disease	dysplastic cerebellar gangliocytoma//dysplastic gangliocytoma of cerebellum//dysplastic gangliocytoma of cerebellum (lhermitte-duclos)//dysplastic gangliocytoma of the cerebellum//ldd//lhermitte-duclos syndrome	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0006901	0006901		65285	C0391826		phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lhermitte-Duclos disease"	3379
Li-Fraumeni syndrome	lfs//li-fraumeni familial cancer susceptibility syndrome//li-fraumeni familiar cancer susceptibility syndrome//li-fraumeni syndrome caused by mutation in tp53//sarcoma family syndrome of li and fraumeni//sarcoma, breast, leukaemia and adrenal gland syndrome//sarcoma, breast, leukemia and adrenal gland syndrome//sbla syndrome//tp53 li-fraumeni syndrome//tp53-related li-fraumeni syndrome	TP53	TP53	https://raresource.nih.gov/literature/disease/0006902	0006902	151623	524	C0085390	D016864	tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Li-Fraumeni syndrome"	1599
Lissencephaly type 1 due to doublecortin gene mutation	dcx-related lissencephaly//lissencephaly and agenesis of corpus callosum//lissencephaly, x-linked//lissencephaly, x-linked, 1//lissencephaly, x-linked, type 1//subcortical laminal heterotopia, x-linked//x-linked lissencephaly type 1	DCX	DCX	https://raresource.nih.gov/literature/disease/0006914	0006914	300067	2148	C4551968		doublecortin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly type 1 due to doublecortin gene mutation"	1
Megalencephaly-capillary malformation-polymicrogyria syndrome	m-cm (macrocephaly-capillary malformation)//macrocephaly-capillary malformation//macrocephaly-capillary malformation syndrome//macrocephaly-capillary malformation syndrome (m-cm, mcap)//macrocephaly-cutis marmorata telangiectatica congenita//macrocephaly-cutis marmorata telangiectatica congenita syndrome//mcap//mcap - megalencephaly capillary malformation//mcm//mcmtc//megalencephaly capillary malformation//megalencephaly cutis marmorata telangiectatica congenita//megalencephaly-capillary malformation//megalencephaly-capillary malformation (mcap) syndrome//megalencephaly-capillary malformation syndrome//megalencephaly-capillary malformation syndrome (mcap syndrome)//megalencephaly-capillary malformation-polymicrogyria syndrome, somatic//megalencephaly-cutis marmorata telangiectatica congenita syndrome	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0006950	0006950	602501	60040	C1865285	C536142	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-capillary malformation-polymicrogyria syndrome"	409
Macular corneal dystrophy	corneal dystrophy groenouw type ii//fehr corneal dystrophy//groenouw type ii corneal dystrophy//macular corneal dystrophy type i//macular dystrophy, corneal, 1//mcd	CHST6	CHST6	https://raresource.nih.gov/literature/disease/0006953	0006953	217800	98969	C1636149	C537834	carbohydrate sulfotransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular corneal dystrophy"	3146
Multiple symmetric lipomatosis	benign symmetrical lipomatosis//cephalothoracic lipodystrophy//cervical symmetrical lipomatosis//familial benign cervical lipomatosis//launois bensaude lipomatosis//launois-bensaude lipomatosis//launois-bensaude syndrome//launois-bensaude's lipomatosis//lipodystrophy, cephalothoracic//lipomatosis, familial benign cervical//lms - multiple symmetrical lipomatosis//madelung disease//madelung neck//madelung's disease//madelung's neck//multiple symmetrical lipomatosis	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0006957	0006957	151800	2398	C0023804	D008069	mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple symmetric lipomatosis"	547
Maffucci syndrome	chondrodysplasia with hemangioma//chondroplasia angiomatosis//dyschondrodysplasia with hemangiomas//dyschondroplasia and cavernous hemangioma//enchondromatosis with hemangiomata//enchondromatosis with multiple cavernous hemangiomas//hemangiomata with dyschondroplasia//hemangiomatosis chondrodystrophica//kast syndrome//maffucci type enchondromatosis//maffucci's anomalad//maffucci's syndrome//multiple angiomas and endochondromas//multiple enchondromatosis, maffucci type	IDH1;IDH2	IDH1;IDH2	https://raresource.nih.gov/literature/disease/0006958	0006958	614569	163634	C0024454		isocitrate dehydrogenase (NADP(+)) 1; isocitrate dehydrogenase (NADP(+)) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maffucci syndrome"	404
Malaria	disease caused by plasmodiidae//malarial fever//paludism//plasmodiosis	CR1;TIRAP;NOS2;ACKR1;CISH;FCGR2A;SLC4A1;ICAM1;GYPC;HBB;CD36;FCGR2B;GYPA;TNF;G6PD;GYPB	CR1;TIRAP;NOS2;ACKR1;CISH;FCGR2A;SLC4A1;ICAM1;GYPC;HBB;CD36;FCGR2B;GYPA;TNF;G6PD;GYPB	https://raresource.nih.gov/literature/disease/0006961	0006961	611162	673	C0024530	D008288	complement C3b/C4b receptor 1 (Knops blood group); TIR domain containing adaptor protein; nitric oxide synthase 2; atypical chemokine receptor 1 (Duffy blood group); cytokine inducible SH2 containing protein; Fc gamma receptor IIa; solute carrier family 4 member 1 (Diego blood group); intercellular adhesion molecule 1; glycophorin C (Gerbich blood group); hemoglobin subunit beta; CD36 molecule (CD36 blood group); Fc gamma receptor IIb; glycophorin A (MNS blood group); tumor necrosis factor; glucose-6-phosphate dehydrogenase; glycophorin B (MNS blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malaria"	87615
Malignant hyperthermia of anesthesia	anaesthesia related hyperthermia//anesthesia related hyperthermia//anesthesic-triggered malignant hyperthermia//hyperthermia of anaesthesia//hyperthermia of anesthesia//malignant hyperpyrexia//malignant hyperpyrexia caused by anesthesia//malignant hyperpyrexia caused by anesthetic//malignant hyperpyrexia due to anaesthesia//malignant hyperpyrexia due to anesthesia//malignant hyperthermia//malignant hyperthermia caused by anesthesia//malignant hyperthermia caused by anesthetic//malignant hyperthermia syndrome//malignant hyperthermia with anaesthesia//malignant hyperthermia with anesthesia	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0006964	0006964	145600	423	C0024591	D008305	ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malignant hyperthermia of anesthesia"	4295
Deficiency of alpha-mannosidase	alpha-d-mannosidosis//alpha-mannosidase deficiency//alpha-mannosidosis//lysosomal alpha-d-mannosidase deficiency//mannosidosis, alpha-, types i and ii//mansa	MAN2B1	MAN2B1	https://raresource.nih.gov/literature/disease/0006968	0006968	248500	61	C0024748	D008363	mannosidase alpha class 2B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of alpha-mannosidase"	224
Mantle cell lymphoma	classical mantle cell lymphoma//lcm//mantle zone lymphoma//mcl	ATM;IGH;CCND1	ATM;IGH;CCND1	https://raresource.nih.gov/literature/disease/0006969	0006969		52416	C4721414	D020522	ATM serine/threonine kinase; immunoglobulin heavy locus; cyclin D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mantle cell lymphoma"	7066
Marden-Walker syndrome	connective tissue disorder marden walker type//mwks	PIEZO2	PIEZO2	https://raresource.nih.gov/literature/disease/0006973	0006973	248700	2461	C0796033	C535910	piezo type mechanosensitive ion channel component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marden-Walker syndrome"	60
Marshall syndrome	marshall's syndrome//mrshs	COL11A1	COL11A1	https://raresource.nih.gov/literature/disease/0006984	0006984	154780	560	C0265235	C536025	collagen type XI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marshall syndrome"	71
Marshall-Smith syndrome	accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome//accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome//mrshss	NFIX	NFIX	https://raresource.nih.gov/literature/disease/0006985	0006985	602535	561	C0265211	C536026	nuclear factor I X	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marshall-Smith syndrome"	75
MASA syndrome	adducted thumb with mental retardation//clasped thumb and mental retardation//gareis-mason syndrome//hereditary spastic paraplegia 1//intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome//intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome//masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome//masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia)//masa syndrome, x-linked recessive//mental retardation, adducted thumbs, shuffling gait, aphasia syndrome//mental retardation, aphasia, shuffling gait, and adducted thumbs//spastic paraplegia 1, x-linked//spastic paraplegia, x-linked//x-linked complicated hereditary spastic paraplegia type 1//x-linked corpus callosum agenesis//x-linked spastic paraplegia 1	L1CAM	L1CAM	https://raresource.nih.gov/literature/disease/0006986	0006986	303350	2466	C0795953		L1 cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MASA syndrome"	45
McCune-Albright syndrome	albright syndrome//albright's disease//albright's syndrome//gonadotropin-independent female-limited sexual precocity//mas//mccune-albright syndrome, somatic, mosaic	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0006995	0006995	174800	562	C0242292		GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=McCune-Albright syndrome"	3032
Metaphyseal chondrodysplasia, McKusick type	autosomal recessive metaphyseal chondrodysplasia//cartilage hair hypoplasia//cartilage hair syndrome//cartilage-hair hypoplasia//cartilage-hair hypoplasia syndrome//chh//mckusick type metaphyseal chondrodysplasia	RMRP	RMRP	https://raresource.nih.gov/literature/disease/0006996	0006996	250250	175	C0220748	C535916	RNA component of mitochondrial RNA processing endoribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal chondrodysplasia, McKusick type"	611
Tubulointerstitial kidney disease, autosomal dominant, 2	adtkd-muc1//adtkd2//autosomal dominant medullary cystic kidney disease without hyperuricemia//autosomal dominant tubulointerstitial kidney disease due to mutations in muc1//mckd1//medullary cystic kidney disease 1//medullary cystic kidney disease type 1//medullary cystic kidney disease, autosomal dominant//muc1-related autosomal dominant medullary cystic kidney disease//muc1-related autosomal dominant tubulointerstitial kidney disease//muc1-related medullary cystic kidney disease//muci-related adtkd//mucin 1 related autosomal dominant tubulointerstitial kidney disease//polycystic kidneys, medullary type	MUC1	MUC1	https://raresource.nih.gov/literature/disease/0007002	0007002	174000	88949	C1868139		mucin 1, cell surface associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tubulointerstitial kidney disease, autosomal dominant, 2"	22
Medulloblastoma	brain medulloblastoma//cerebellar medulloblastoma//cerebellum embryonal neoplasm//mdb//mdb - medulloblastoma//medulloblastoma predisposition syndrome//medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation//medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation//medulloblastoma, malignant//medulloblastoma, somatic//medulloblastoma, sufu-related//medulloblastomas	BRCA2;ELP1;GPR161;PTCH2;CTNNB1;SUFU	BRCA2;ELP1;GPR161;PTCH2;CTNNB1;SUFU	https://raresource.nih.gov/literature/disease/0007005	0007005	155255	616	C0025149	D008527	BRCA2 DNA repair associated; elongator acetyltransferase complex subunit 1; G protein-coupled receptor 161; patched 2; catenin beta 1; SUFU negative regulator of hedgehog signaling	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Medulloblastoma"	9269
Imerslund-Grasbeck syndrome	enterocyte cobalamin malabsorption//enterocyte intrinsic factor receptor, defect of//familial megaloblastic anaemia//familial megaloblastic anemia//imerslund disease//imerslund's syndrome//imerslund-grasbeck anemia//imerslund-grasbeck disease//imerslund-gräsbeck syndrome//imerslund-najman-grasbeck syndrome//juvenile megaloblastic anaemia//juvenile megaloblastic anemia//megaloblastic anemia due to inborn errors of metabolism//pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria//selective cobalamin malabsorption with proteinuria//selective malabsorption of cyanocobalamin//vitamin b12 deficiency anemia due to selective malabsorption of cyanocobalamin	CUBN;AMN	CUBN;AMN	https://raresource.nih.gov/literature/disease/0007006	0007006		35858	C4551825	C538556	cubilin; amnion associated transmembrane protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Imerslund-Grasbeck syndrome"	124
MELAS syndrome	juvenile myopathy, encephalopathy, lactic acidosis, stroke//melas//melas - mitochondrial encephalopathy, lactic acidosis and stroke-like episodes//mitochondrial encephalomyopathy, lactic acidosis and stroke//mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes//mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes//mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes//mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	MT-TS2;MT-TV;MT-TQ;MT-TW;MT-TL2;MT-TL1;MT-TF;MT-ND5;MT-TH;MT-ND6;MT-CO2;MT-ND1;MT-TK;MT-TC;MT-TS1;MT-CO1;MT-CO3;MT-CYB	MT-TS2;MT-TV;MT-TQ;MT-TW;MT-TL2;MT-TL1;MT-TF;MT-ND5;MT-TH;MT-ND6;MT-CO2;MT-ND1;MT-TK;MT-TC;MT-TS1;MT-CO1;MT-CO3;MT-CYB	https://raresource.nih.gov/literature/disease/0007009	0007009	540000	550	C0162671	D017241	mitochondrially encoded tRNA-Ser (AGU/C) 2; mitochondrially encoded tRNA-Val (GUN); mitochondrially encoded tRNA-Gln (CAA/G); mitochondrially encoded tRNA-Trp (UGA/G); mitochondrially encoded tRNA-Leu (CUN) 2; mitochondrially encoded tRNA-Leu (UUA/G) 1; mitochondrially encoded tRNA-Phe (UUU/C); mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5; mitochondrially encoded tRNA-His (CAU/C); mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; mitochondrially encoded cytochrome c oxidase II; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1; mitochondrially encoded tRNA-Lys (AAA/G); mitochondrially encoded tRNA-Cys (UGU/C); mitochondrially encoded tRNA-Ser (UCN) 1; mitochondrially encoded cytochrome c oxidase I; mitochondrially encoded cytochrome c oxidase III; mitochondrially encoded cytochrome b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome"	1658
Melnick-Needles syndrome	melnick-needles osteodysplasty//melnick-needles syndrome, x-linked dominant//mns//osteodysplasty//osteodysplasty of melnick and needles	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0007011	0007011	309350	2484	C0025237		filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melnick-Needles syndrome"	299
Meningioma	meningioma (disease)//meningioma, somatic//noncancerous growth of membranes covering brain	TERT;NF2;AKT1;SUFU;SMARCE1;PDGFB;TRAF7;PIK3CA;SMARCB1;SMO;BAP1	TERT;NF2;AKT1;SUFU;SMARCE1;PDGFB;TRAF7;PIK3CA;SMARCB1;SMO;BAP1	https://raresource.nih.gov/literature/disease/0007015	0007015		2495	C0025286	D008579	telomerase reverse transcriptase; NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor; AKT serine/threonine kinase 1; SUFU negative regulator of hedgehog signaling; SWI/SNF related BAF chromatin remodeling complex subunit E1; platelet derived growth factor subunit B; TNF receptor associated factor 7; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; SWI/SNF related BAF chromatin remodeling complex subunit B1; smoothened, frizzled class receptor; BRCA1 associated deubiquitinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meningioma"	12466
Mesothelioma, malignant	cancer, mesothelioma//malignant mesothelial tumor//malignant mesothelial tumour//malignant mesothelioma//malignant mesothelioma (disease)//malignant neoplasm of mesothelium//malignant neoplasm of the mesothelium//malignant tumor of mesothelium//malignant tumor of the mesothelium//malignant tumour of mesothelium//malignant tumour of the mesothelium//mesom//mesothelioma (malignant, clinical disorder)//mesothelioma, somatic//pleural mesothelioma	WT1;BCL10	WT1;BCL10	https://raresource.nih.gov/literature/disease/0007026	0007026	156240	50251	C0345967	C562839	WT1 transcription factor; BCL10 immune signaling adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mesothelioma, malignant"	599
Metaphyseal chondrodysplasia, Schmid type	japanese type spondylometaphyseal dysplasia//mcds//metaphyseal dysplasia, schmid type//schmid metaphyseal chondrodysplasia//schmid type metaphyseal dysplasia//spondylometaphyseal dysplasia, japanese type	COL10A1	COL10A1	https://raresource.nih.gov/literature/disease/0007029	0007029	156500	174	C0265289	C537352	collagen type X alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal chondrodysplasia, Schmid type"	247
Multiple congenital exostosis	bessel-hagen disease//diaphyseal aclasia//exostoses, multiple//ext//hereditary multiple exostoses//hereditary multiple exostosis//hereditary multiple osteochondromas//multiple cartilaginous exostoses//multiple exostoses//multiple exostoses type i//multiple exostosis syndromes//multiple ostechondromas//multiple osteochondromas//multiple osteochondromatosis//osteochondromatosis//osteochondromatosis syndrome//osteochondromatosis syndrome (disorder) [ambiguous]	EXT2;EXT1	EXT2;EXT1	https://raresource.nih.gov/literature/disease/0007035	0007035		321	C0015306	D005097	exostosin glycosyltransferase 2; exostosin glycosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple congenital exostosis"	1018
Congenital microvillous atrophy	congenital familial protracted diarrhea with enterocyte brush-border abnormalities//congenital familial protracted diarrhoea with enterocyte brush-border abnormalities//congenital microvillus atrophy//davidson disease//diar2//diarrhea 2 with microvillus atrophy//diarrhea 2 with microvillus atrophy, with or without cholestasis//diarrhea with microvillus atrophy 2//diarrhoea 2 with microvillus atrophy//microvillous inclusion disease//microvillus atrophy, congenital//microvillus inclusion disease//mvd//mvid//myo5b secretory diarrhea//myo5b secretory diarrhoea//secretory diarrhea caused by mutation in myo5b//secretory diarrhoea caused by mutation in myo5b	MYO5B	MYO5B	https://raresource.nih.gov/literature/disease/0007039	0007039	251850	2290	C0341306		myosin VB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital microvillous atrophy"	5245
Moyamoya disease	idiopathic moyamoya disease//moyamoya syndrome//progressive intracranial arterial occlusion	DIAPH1	DIAPH1	https://raresource.nih.gov/literature/disease/0007064	0007064		2573	C0026654	D009072	diaphanous related formin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moyamoya disease"	5193
Mucopolysaccharidosis, MPS-III-A	heparan sulfamidase deficiency//heparan-n-sulfatase deficiency//mps iii a//mps iii-a - mucopolysaccharidosis iii-a//mps3a//mpsiiia//mpsiiia - mucopolysaccharidosis type iiia//mucopolysaccharidosis iii-a//mucopolysaccharidosis type 3a//mucopolysaccharidosis type iiia//mucopolysaccharidosis type iiia (sanfilippo a)//mucopolysaccharidosis, type iiia, attenuated//n-sulfoglucosamine sulfohydrolase deficiency//sanfilippo a//sanfilippo syndrome a//sanfilippo syndrome type a//sanfilippo syndrome, type a//sulfamidase deficiency	SGSH	SGSH	https://raresource.nih.gov/literature/disease/0007071	0007071	252900	79269	C0086647		N-sulfoglucosamine sulfohydrolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-III-A"	186
Mucopolysaccharidosis, MPS-III-B	alpha-n-acetylglucosaminidase deficiency//mps iii b//mps iii-b - mucopolysaccharidosis iii-b//mps3b//mpsiiib//mpsiiib - mucopolysaccharidosis type iiib//mucopolysaccharidosis iii-b//mucopolysaccharidosis type 3b//mucopolysaccharidosis type iiib//mucopolysaccharidosis type iiib (sanfilippo b)//mucopolysaccharidosis, type iiib//n-acetyl-alpha-d-glucosaminidase deficiency//n-acetyl-alpha-glucosaminidase deficiency//naglu deficiency//sanfilippo b//sanfilippo syndrome b//sanfilippo syndrome type b//sanfilippo syndrome, type b	NAGLU	NAGLU	https://raresource.nih.gov/literature/disease/0007072	0007072	252920	79270	C0086648		N-acetyl-alpha-glucosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-III-B"	1158
Mucopolysaccharidosis, MPS-III-C	acetyl-coa alpha-glucosaminide acetyltransferase deficiency//acetyl-coa: heparan-alpha-d-glucosaminide n-acetyltransferase deficiency//heparan-alpha-glucosaminide acetyltransferase deficiency//heparan-alpha-glucosaminide n-acetyltransferase deficiency//hgsnat deficiency//mps iii c//mps iii-c - mucopolysaccharidosis iii-c//mps3c//mpsiiic//mpsiiic - mucopolysaccharidosis type iiic//mucopolysaccharidosis iii-c//mucopolysaccharidosis type 3c//mucopolysaccharidosis type iiic//mucopolysaccharidosis type iiic (sanfilippo c)//mucopolysaccharidosis, type iiic//n-acetyl transferase deficiency//sanfilippo c//sanfilippo syndrome c//sanfilippo syndrome type c//sanfilippo syndrome, type c	HGSNAT	HGSNAT	https://raresource.nih.gov/literature/disease/0007073	0007073	252930	79271	C0086649		heparan-alpha-glucosaminide N-acetyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-III-C"	48
Mucopolysaccharidosis, MPS-III-D	deficiency of n-acetylglucosamine-6-sulfatase//glucosamine n-acetyl-6-sulfatase deficiency//gns deficiency//mps 3d//mps iii d//mps iii-d - mucopolysaccharidosis iii-d//mps3d//mpsiiid//mpsiiid - mucopolysaccharidosis type iiid//mucopoly-saccharidosis type 3d//mucopolysaccharidosis iii-d//mucopolysaccharidosis type 3d//mucopolysaccharidosis type iiid//mucopolysaccharidosis, type iiid//n-acetylglucosamine-6-sulfatase deficiency//n-acetylglucosamine-6-sulfate sulfatase deficiency//sanfilippo d//sanfilippo syndrome d//sanfilippo syndrome type d//sanfilippo syndrome, type d	GNS	GNS	https://raresource.nih.gov/literature/disease/0007074	0007074	252940	79272	C0086650		glucosamine (N-acetyl)-6-sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-III-D"	31
Multiple system atrophy	msa//msa - multiple system atrophy//multisystem atrophy//shy-drager syndrome	COQ2	COQ2	https://raresource.nih.gov/literature/disease/0007079	0007079	146500	102	C0393571	D019578	coenzyme Q2, polyprenyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple system atrophy"	6325
Mucopolysaccharidosis type 6	arsb - arylsulfatase b deficiency//arsb deficiency//arylsulfatase b deficiency//asb deficiency//deficiency of n-acetylgalactosamine-4-sulfatase//maroteaux - lamy syndrome//maroteaux lamy syndrome//maroteaux-lamy disease//maroteaux-lamy syndrome//mps 6//mps vi//mps vi - maroteaux-lamy syndrome//mps vi - mucopolysaccharidosis vi//mps6//mpsvi//mucopolysaccharidosis chondroitin sulfate b//mucopolysaccharidosis type vi//mucopolysaccharidosis type vi (maroteaux-lamy)//mucopolysaccharidosis, mps-vi//n-acetylgalactosamine 4-sulfatase deficiency//n-acetylgalactosamine-4-sulfatase deficiency//polydystrophic dwarfism	ARSB	ARSB	https://raresource.nih.gov/literature/disease/0007095	0007095	253200	583	C0026709	D009087	arylsulfatase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 6"	587
Mucopolysaccharidosis type 7	beta-glucuronidase deficiency//deficiency of beta-glucuronidase//gusb deficiency//mps vii//mps vii - mucopolysaccharidosis vii//mps vii - sly syndrome//mps7//mpsvii//mucopolysaccharidosis type vii//mucopolysaccharidosis vii//mucopolysaccharidosis, mps-vii//sly disease//sly syndrome	GUSB	GUSB	https://raresource.nih.gov/literature/disease/0007096	0007096	253220	584	C0085132	D016538	glucuronidase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 7"	414
Muenke syndrome	fgfr3-related craniosynostosis//fibroblast growth factor receptor 3 (fgfr3) related craniosynostosis//fibroblast growth factor receptor 3-related craniosynostosis//mnkes//muenke nonsyndromic coronal craniosynostosis	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0007097	0007097	602849	53271	C1864436	C537369	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muenke syndrome"	89
Multiple myeloma	familial myeloma//kahler disease//kahler's disease//medullary plasmacytoma//mm//multiple myeloma (clinical)//multiple myeloma, resistance to, somatic mutation//multiple myeloma, somatic//multiple myeloma, susceptibility to, somatic mutation//multiple myeloma/plasma cell myeloma//myeloid neoplasm of plasma cell//myeloma//myeloma, multiple//myeloma, plasma cell, malignant//myelomatosis//plasma cell myeloid neoplasm//plasma cell myeloma//plasmacytic myeloma//plasmocytoma	CCND1;LIG4	CCND1;LIG4	https://raresource.nih.gov/literature/disease/0007108	0007108	254500	29073	C0026764	D009101	cyclin D1; DNA ligase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple myeloma"	67529
Autosomal recessive multiple pterygium syndrome	autosomal recessive non-lethal multiple pterygium syndrome//escobar syndrome//escobar variant multiple pterygium syndrome//evmps//multiple pterygium syndrome, autosomal recessive//multiple pterygium syndrome, escobar variant//pterygium colli syndrome//pterygium syndrome//pterygium universale	CHRNG	CHRNG	https://raresource.nih.gov/literature/disease/0007111	0007111	265000	2990	C0265261		cholinergic receptor nicotinic gamma subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive multiple pterygium syndrome"	93
Myelodysplastic syndrome	dysmyelopoietic syndrome//hematopoeitic - myelodysplastic syndrome (mds)//mds//mds - myelodysplastic syndrome//mds, unclassifiable//mds-u//myelodysplasia//myelodysplastic neoplasm//myelodysplastic syndrome (clinical)//myelodysplastic syndrome, somatic//myelodysplastic syndrome, susceptibility to//myelodysplastic syndrome, susceptibility, gata2-related//myelodysplastic syndrome, unclassifiable//myelodysplastic syndrome/neoplasm//myelodysplastic syndromes//oligoblastic leukaemia//oligoblastic leukemia//preleukemia//smoldering leukemia//smouldering leukaemia	TET2;SF3B1;GNB1;GATA2;ASXL1	TET2;SF3B1;GNB1;GATA2;ASXL1	https://raresource.nih.gov/literature/disease/0007132	0007132	614286	52688	C3463824	D009190	tet methylcytosine dioxygenase 2; splicing factor 3b subunit 1; G protein subunit beta 1; GATA binding protein 2; ASXL transcriptional regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myelodysplastic syndrome"	7500
Myoclonus-dystonia syndrome	alcohol-responsive dystonia//dystonia with myoclonus//dyt-sgce//hereditary essential myoclonus//myoclonic dystonia	KCTD17;SGCE	KCTD17;SGCE	https://raresource.nih.gov/literature/disease/0007139	0007139		36899	CN295306	C536096	potassium channel tetramerization domain containing 17; sarcoglycan epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonus-dystonia syndrome"	3302
MERRF syndrome	fukuhara syndrome//merrf//merrf - myoclonic epilepsy with ragged red fibers//myoclonic epilepsy - ragged red fibers//myoclonic epilepsy - ragged red fibres//myoclonic epilepsy associated with ragged-red fibers//myoclonic epilepsy with ragged red fibers//myoclonus epilepsy and ragged red fibers//myoclonus epilepsy and ragged red fibres//myoclonus epilepsy associated with ragged-red fibers//myoclonus epilepsy associated with ragged-red fibres//myoclonus with epilepsy and with ragged red fibers//myoclonus with epilepsy and with ragged red fibers (merrf syndrome)//myoclonus with epilepsy and with ragged red fibres//myoclonus with epilepsy and with ragged red fibres (merrf syndrome)//myoclonus with epilepsy with ragged red fibers//myoencephalopathy ragged-red fiber disease	MT-TH;MT-TF;MT-TI;MT-TP;MT-TK;MT-TS2;MT-TL1;MT-TS1	MT-TH;MT-TF;MT-TI;MT-TP;MT-TK;MT-TS2;MT-TL1;MT-TS1	https://raresource.nih.gov/literature/disease/0007144	0007144	545000	551	C0162672	D017243	mitochondrially encoded tRNA-His (CAU/C); mitochondrially encoded tRNA-Phe (UUU/C); mitochondrially encoded tRNA-Ile (AUU/C); mitochondrially encoded tRNA-Pro (CCN); mitochondrially encoded tRNA-Lys (AAA/G); mitochondrially encoded tRNA-Ser (AGU/C) 2; mitochondrially encoded tRNA-Leu (UUA/G) 1; mitochondrially encoded tRNA-Ser (UCN) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MERRF syndrome"	420
Hyperammonemia, type III	amino acid acetyltransferase deficiency//congenital aga deficiency//hyperammonemia due to n-acetylglutamate synthase deficiency//n-acetylglutamate synthase deficiency//n-acetylglutamate synthetase deficiency//n-acetylglutamate transferase deficiency//nags - n-acetylglutamate synthase deficiency//nags deficiency//nags-gene related hyperammonemia type iii//nagsd	NAGS	NAGS	https://raresource.nih.gov/literature/disease/0007158	0007158	237310	927	C0268543	C536109	N-acetylglutamate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperammonemia, type III"	78
Nail-patella syndrome	fong disease//hereditary onychoostedysplasia//hereditary osteo-onychodysplasia//iliac horn syndrome//nps//nps 1//nps1//onychoosteodysplasia//osteo-onychodysplasia//turner kieser syndrome//turner-kieser syndrome//turner-kiser syndrome	LMX1B	LMX1B	https://raresource.nih.gov/literature/disease/0007160	0007160	161200	2614	C0027341	D009261	LIM homeobox transcription factor 1 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nail-patella syndrome"	1064
Nance-Horan syndrome	nance-horan syndrome, x-linked dominant//nhs	NHS	NHS	https://raresource.nih.gov/literature/disease/0007161	0007161	302350	627	C0796085	C538336	NHS actin remodeling regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nance-Horan syndrome"	2643
Nasopharyngeal carcinoma	carcinoma of nasopharynx//carcinoma of the nasopharynx//nasopharyngeal carcinoma, somatic//nasopharynx carcinoma//npc//squamous cell carcinoma of the nasopharynx	TP53	TP53	https://raresource.nih.gov/literature/disease/0007163	0007163	607107	150	C2931822	D00007727;D000077274	tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nasopharyngeal carcinoma"	19269
Gorlin syndrome	basal cell carcinoma syndrome//basal cell nevus syndrome//bcns - basal cell nevus syndrome//gorlin's syndrome//gorlin-goltz syndrome//multiple basal cell carcinomas//nbccs//nbccs - nevoid basal cell carcinoma syndrome//nevoid basal cell cancer syndrome//nevoid basal cell carcinoma syndrome	SUFU;PTCH2;PTCH1	SUFU;PTCH2;PTCH1	https://raresource.nih.gov/literature/disease/0007166	0007166		377	C0004779	D001478	SUFU negative regulator of hedgehog signaling; patched 2; patched 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gorlin syndrome"	1960
Childhood-onset nemaline myopathy	mild nemaline myopathy	KBTBD13;ACTA1;NEB;TPM2;TPM3;MYPN;KLHL41	KBTBD13;ACTA1;NEB;TPM2;TPM3;MYPN;KLHL41	https://raresource.nih.gov/literature/disease/0007171	0007171		171439	C0546125		kelch repeat and BTB domain containing 13; actin alpha 1, skeletal muscle; nebulin; tropomyosin 2; tropomyosin 3; myopalladin; kelch like family member 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset nemaline myopathy"	230
Nephrogenic diabetes insipidus	arginine vasopressin resistance//avp-r - arginine vasopressin resistance//ndi - nephrogenic diabetes insipidus//vasopressin resistance	AQP2;AVPR2	AQP2;AVPR2	https://raresource.nih.gov/literature/disease/0007178	0007178		223	C0162283	D018500	aquaporin 2; arginine vasopressin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrogenic diabetes insipidus"	1278
Netherton syndrome	axial osteosclerosis with bamboo hair//bamboo hair syndrome//comel-netherton syndrome//comèl-netherton syndrome//erythroderma, ichthyosiform, with hypotrichosis and hyper-ige//ichthyosis, netherton syndrome//neth//netherton disease//netherton's syndrome//ns	SPINK5	SPINK5	https://raresource.nih.gov/literature/disease/0007182	0007182	256500	634	C5574950	D056770	serine peptidase inhibitor Kazal type 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Netherton syndrome"	4716
Sialidosis type 2	cherry red spot--myoclonus syndrome//deficiency of neuraminidase//deficiency of sialidase//dysmorphic sialidosis//dysmorphic sialidosis with renal involvement//glycoprotein neuraminidase deficiency//infantile dysmorphic sialidosis//lipomucopolysaccharidosis//ml i//mucolipidosis type 1//nephrosialidosis//neu 1 deficiency//neu deficiency//neu1 sialidosis//neug deficiency//neuraminidase 1 deficiency//neuraminidase deficiency//sialidase deficiency//sialidosis caused by mutation in neu1//sialidosis type ii//sialidosis, type i//sialidosis, type ii	NEU1	NEU1	https://raresource.nih.gov/literature/disease/0007183	0007183	256550	87876	C4282398	C562606	neuraminidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sialidosis type 2"	174
Neurocutaneous melanocytosis	ncm//ncms//neurocutaneous melanosis//neurocutaneous melanosis, somatic//neuromelanosis	NRAS	NRAS	https://raresource.nih.gov/literature/disease/0007186	0007186	249400	2481	C0544862	C537387	NRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurocutaneous melanocytosis"	466
Neurofibromatosis, type 2	banf - bilateral acoustic neurofibromatosis//bilateral acoustic neurofibromatosis//familial acoustic neuroma//familial vestibular schwannoma//full neurofibromatosis type 2//full nf2//full nf2-related schwannomatosis//neurofibromatosis 2//neurofibromatosis, central type//nf2//nf2-related schwannomatosis//nonmosaic neurofibromatosis type 2//nonmosaic nf2-related schwannomatosis//schwannomatosis, vestibular//swnv//vestibular schwannomatosis	NF2	NF2	https://raresource.nih.gov/literature/disease/0007193	0007193	101000	637	C0027832	D016518	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis, type 2"	2393
T-lymphocyte deficiency	congenital thymic dysplasia syndrome//immune defect due to absence of thymus//nezelof syndrome//nezelof's syndrome//thymic aplasia	FOXN1	FOXN1	https://raresource.nih.gov/literature/disease/0007201	0007201	242700	83471	C0152094	C536288	forkhead box N1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-lymphocyte deficiency"	142
Niemann-Pick disease, type A	classical niemann-pick disease//infantile neurovisceral acid sphingomyelinase deficiency//infantile neurovisceral asmd//niemann-pick disease neuropathic type//niemann-pick disease, acute neuropathic form//niemann-pick disease, acute neurovisceral form//npd-a	SMPD1	SMPD1	https://raresource.nih.gov/literature/disease/0007206	0007206	257200	77292	C0268242	D052536	sphingomyelin phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease, type A"	106
Noonan syndrome 1	female pseudo-turner syndrome//noonan syndrome type 1//ns1//ptpn11-related noonan syndrome//turner phenotype with normal karyotype	PTPN11;MAP2K1;BRAF	PTPN11;MAP2K1;BRAF	https://raresource.nih.gov/literature/disease/0007223	0007223			C4551602		protein tyrosine phosphatase non-receptor type 11; mitogen-activated protein kinase kinase 1; B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 1"	1
Atrophia bulborum hereditaria	anderson-warburg syndrome//episkopi blindness//fetal iritis syndrome//nd//norrie disease//norrie disease, x-linked recessive//norrie syndrome//norrie's disease//norrie-warburg disease//norrie-warburg syndrome//oligophrenia microphthalmus//pseudoglioma	NDP	NDP	https://raresource.nih.gov/literature/disease/0007224	0007224	310600	649	C0266526	C537849	norrin cystine knot growth factor NDP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrophia bulborum hereditaria"	3586
Lesch-Nyhan syndrome	choreoathetosis self-mutilation syndrome//complete hgprt deficiency//complete hypoxanthine-guanine phosphoribosyltransferase deficiency//hg-prt deficiency//hgprt deficiency//hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency//hprt complete deficiency//hprt deficiency grade iv//hprt deficiency, complete//hypoxanthine guanine phosphoribosyltransferase complete deficiency//hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv//lesch-nyhan disease//lesch-nyhan syndrome, x-linked recessive//lns//total hgprt deficiency//x-linked hyperuricemia//x-linked hyperuricemia (disorder) [ambiguous]	HPRT1	HPRT1	https://raresource.nih.gov/literature/disease/0007226	0007226	300322	510	C0023374	D007926	hypoxanthine phosphoribosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lesch-Nyhan syndrome"	1113
Oculodentodigital dysplasia	curtius' syndrome i//ectodermal dysplasia-ocular malformation syndrome//meyer-schwickerath syndrome//oculodentodigital syndrome//oculodentoosseous dysplasia//odd syndrome//oddd//oddd syndrome	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0007239	0007239	164200	2710	C0812437	C563160	gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculodentodigital dysplasia"	203
Oculopharyngeal muscular dystrophy	muscular dystrophy, oculopharyngeal//oculopharyngeal dystrophy//opmd	PABPN1	PABPN1	https://raresource.nih.gov/literature/disease/0007245	0007245		270	C0270952	D039141	poly(A) binding protein nuclear 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngeal muscular dystrophy"	1062
Enchondromatosis	congenital enchondromatosis//dyschondroplasia//enchondromatosis with haemangiomata//enchondromatosis, multiple//enchondromatosis, multiple, ollier type//kast's syndrome//multiple cartilaginous enchondroses//multiple enchondromata//multiple enchondromatosis//ollier disease//ollier type enchondromatosis//ollier's disease//osteochondromatosis	IDH2;PTH1R;IDH1	IDH2;PTH1R;IDH1	https://raresource.nih.gov/literature/disease/0007251	0007251	166000	296	C0014084	D004687	isocitrate dehydrogenase (NADP(+)) 2; parathyroid hormone 1 receptor; isocitrate dehydrogenase (NADP(+)) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Enchondromatosis"	810
Congenital hyperammonemia, type I	carbamoyl phosphate synthetase 1 deficiency//carbamoyl phosphate synthetase deficiency//carbamoyl phosphate synthetase i deficiency disease//carbamoyl-phosphate synthase deficiency disease//carbamoyl-phosphate synthase i deficiency//carbamoyl-phosphate synthetase 1 deficiency//carbamoyl-phosphate synthetase deficiency//carbamoyl-phosphate synthetase i deficiency//carbamoylphosphate synthetase i deficiency//carbamyl phosphate synthetase (cps) deficiency//cps 1 deficiency//cps i deficiency//cps1 deficiency//cps1d//hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency	CPS1	CPS1	https://raresource.nih.gov/literature/disease/0007269	0007269	237300	147	C4082171	D020165	carbamoyl-phosphate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital hyperammonemia, type I"	124
Bone osteosarcoma	osteogenic sarcoma//osteosarcoma//osteosarcoma of bone//osteosarcoma, somatic//osteosarcoma, somatic mutation//primary osteosarcoma of bone	RB1;CHEK2;TP53	RB1;CHEK2;TP53	https://raresource.nih.gov/literature/disease/0007284	0007284	259500	668	C0585442		RB transcriptional corepressor 1; checkpoint kinase 2; tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bone osteosarcoma"	1903
Pallister-Hall syndrome	ano-cerebro-digital syndrome//hypothalamic hamartoblastoma syndrome//hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly//phs	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0007305	0007305	146510	672	C0265220	D054975	GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pallister-Hall syndrome"	909
Paramyotonia congenita of Von Eulenburg	eulenburg disease//eulenburg syndrome//eulenburg's disease//myotonia congenita intermittens//paralysis periodica paramyotonica//paramyotonia congenita//von eulenburg paramyotonia congenita	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0007325	0007325	168300	684	C0221055		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paramyotonia congenita of Von Eulenburg"	305
Parathyroid carcinoma	adenocarcinoma of parathyroid//adenocarcinoma of parathyroid gland//adenocarcinoma of the parathyroid//adenocarcinoma of the parathyroid gland//carcinoma of parathyroid//carcinoma of parathyroid gland//carcinoma of the parathyroid//carcinoma of the parathyroid gland//cdc73-related parathyroid carcinoma//parathyroid adenocarcinoma//parathyroid cancer//parathyroid gland adenocarcinoma//parathyroid gland carcinoma//prtc	CDC73	CDC73	https://raresource.nih.gov/literature/disease/0007329	0007329	608266	143	C0687150		cell division cycle 73	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parathyroid carcinoma"	1701
Paroxysmal nocturnal hemoglobinuria	acquired paroxysmal nocturnal hemoglobinuria//hereditary paroxysmal nocturnal hemoglobinuria//inherited paroxysmal nocturnal hemoglobinuria//marchiafava-micheli disease//marchiafava-micheli syndrome//paroxysmal hemoglobinuria//paroxysmal nocturnal haemoglobinuria//pnh//pnh - paroxysmal nocturnal hemoglobinuria	PIGA	PIGA	https://raresource.nih.gov/literature/disease/0007337	0007337		447	C0024790		phosphatidylinositol glycan anchor biosynthesis class A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal nocturnal hemoglobinuria"	4061
Heterotopia, periventricular, X-linked dominant	heterotopia, periventricular, 1//heterotopia, periventricular, 1, x-linked dominant//heterotopia, periventricular, ehlers-danlos variant//periventricular nodular heterotopia 1//periventricular nodular heterotopia 4//pvnh1//x-linked periventricular heterotopia	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0007371	0007371	300049		C1848213		filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotopia, periventricular, X-linked dominant"	4
Irido-corneo-trabecular dysgenesis	anterior segment dysgenesis 5//anterior segment dysgenesis 5, multiple subtypes//asgd5//peter's anomaly//peters anomaly//peters anomaly (disease)//peters congenital glaucoma	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0007377	0007377	604229	708	C0344559	C537884	paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Irido-corneo-trabecular dysgenesis"	433
Peutz-Jeghers syndrome	colonic hamartomatous polyp//gastric peutz-jeghers polyp//hamartomatous intestinal polyposis//jeghers-peutz syndrome//perioral lentiginosis//periorificial lentiginosis syndrome//peutz jeghers colon polyp//peutz's syndrome//peutz-jeghers polyp of small intestine//peutz-jeghers polyposis//peutz-jeghers small bowel hamartoma//pjs//pjs - peutz-jeghers syndrome//polyposis, hamartomatous intestinal//polyps and spots syndrome//polyps-and-spots syndrome//stk11-related peutz-jeghers syndrome	STK11	STK11	https://raresource.nih.gov/literature/disease/0007378	0007378	175200	2869	C0031269	D010580	serine/threonine kinase 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peutz-Jeghers syndrome"	2155
Pfeiffer syndrome	acrocephalosyndactylia type v//acrocephalosyndactyly type 5//acs v//acs5//fgfr1-related craniosynostosis//pfeiffer-type acrocephalosyndactyly//type v acrocephalosyndactyly	FGFR2;FGFR1	FGFR2;FGFR1	https://raresource.nih.gov/literature/disease/0007380	0007380	101600	710	C0220658		fibroblast growth factor receptor 2; fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pfeiffer syndrome"	262
Liddle syndrome	liddle's syndrome//pseudoaldosteronism//pseudohyperaldosteronism type 1//pseudoprimary hyperaldosteronism	SCNN1B;SCNN1A;SCNN1G	SCNN1B;SCNN1A;SCNN1G	https://raresource.nih.gov/literature/disease/0007381	0007381		526	C0221043	D056929	sodium channel epithelial 1 subunit beta; sodium channel epithelial 1 subunit alpha; sodium channel epithelial 1 subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liddle syndrome"	105
Phenylketonuria	folling disease//hyperphenylalaninemia, non-pku mild//oligophrenia phenylpyruvica//pah (phenylalanine hydroxylase) deficiency//pah deficiency//pah-gene related phenylketonuria//phenylalanine hydroxylase deficiency//phenylalaninemia//phenylketonurias//pku//pku - phenylketonuria	PAH	PAH	https://raresource.nih.gov/literature/disease/0007383	0007383		716	C0031485	D010661	phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phenylketonuria"	6864
Sporadic pheochromocytoma/secreting paraganglioma	sporadic pheochromocytoma and secreting paraganglioma	DNMT3A;EPAS1	DNMT3A;EPAS1	https://raresource.nih.gov/literature/disease/0007385	0007385		276621	C4707333		DNA methyltransferase 3 alpha; endothelial PAS domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sporadic pheochromocytoma/secreting paraganglioma"	152
Roberts-SC phocomelia syndrome	appelt-gerken-lenz syndrome//esco2 spectrum disorder//hypomelia hypotrichosis facial hemangioma syndrome//hypomelia-hypotrichosis-facial hemangioma syndrome//long bone deficiencies associated with cleft lip-palate//phocomelia-pseudothalidomide syndrome//pseudothalidomide syndrome//rbs//robert's syndrome//roberts syndrome//roberts syndrome/sc phocomelia//roberts tetraphocomelia syndrome//sc phocomelia syndrome//tetraphocomelia-cleft palate syndrome	ESCO2	ESCO2	https://raresource.nih.gov/literature/disease/0007387	0007387	268300	3103	C0392475	C535687	establishment of sister chromatid cohesion N-acetyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Roberts-SC phocomelia syndrome"	277
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	glycogen storage disease caused by mutation in pgk1//glycogenosis due to phosphoglycerate kinase 1 deficiency//gsd due to phosphoglycerate kinase 1 deficiency//pgk1 deficiency//pgk1 glycogen storage disease//phosphoglycerate kinase 1 deficiency with levo-dopa-responsive parkinsonism//phosphoglycerate kinase 1 deficiency, x-linked recessive//phosphoglycerate kinase deficiency	PGK1	PGK1	https://raresource.nih.gov/literature/disease/0007389	0007389	300653	713	C1970848	C567067	phosphoglycerate kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	5300
Behavioral variant of frontotemporal dementia	bv-ftd	SQSTM1;PSEN1	SQSTM1;PSEN1	https://raresource.nih.gov/literature/disease/0007392	0007392		275864	C4011788		sequestosome 1; presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Behavioral variant of frontotemporal dementia"	185
Ateleiotic dwarfism	ateliotic dwarfism//autosomal recessive isolated growth hormone deficiency//congenital ighd type ia//congenital isolated gh deficiency type ia//congenital isolated growth hormone deficiency type ia//growth hormone deficiency, isolated autosomal recessive//growth hormone deficiency, isolated, type ia//hypopituitary dwarfism with normal sexual characteristics//idiopathic pituitary dwarfism//ighd ia//ighd1a//illig type growth hormone deficiency//illig-type growth hormone deficiency//isolated growth hormone deficiency type 1a//isolated growth hormone deficiency type ia//isolated growth hormone deficiency, type ia//pituitary dwarfism 1//pituitary dwarfism i//primordial dwarfism//sexual ateleiotic dwarfism//sexual ateliotic dwarfism//sexual dwarfism	GH1	GH1	https://raresource.nih.gov/literature/disease/0007399	0007399	262400	231662	C0342573	C537404	growth hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ateleiotic dwarfism"	164
Pityriasis rubra pilaris	devergie's disease//lichen ruber acuminatus//pityriasis rubra pilaris--familial type//prp//prp - pityriasis rubra pilaris	CARD14	CARD14	https://raresource.nih.gov/literature/disease/0007401	0007401			C0032027	D010916	caspase recruitment domain family member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pityriasis rubra pilaris"	1088
Acquired polycythemia vera	acquired primary erythrocytosis//osler-vaquez disease//osler-vaquez syndrome//polycythaemia rubra vera//polycythemia rubra vera//polycythemia vera//polycythemia vera (clinical)//polycythemia vera, somatic//ppp - primary proliferative polycythemia//primary proliferative polycythemia//proliferative polycythaemia//proliferative polycythemia//prv - polycythemia rubra vera//pv//suspected polycythemia vera//vaquez disease//vaquez's disease	JAK2	JAK2	https://raresource.nih.gov/literature/disease/0007422	0007422	263300	729	C0032463	D011087	Janus kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acquired polycythemia vera"	8944
Congenital posterior urethral valve	congenital obstructing posterior urethral membranes//congenital posterior urethral valves//copum//posterior urethral valve//posterior urethral valves//puv//puv - posterior urethral valve	BNC2	BNC2	https://raresource.nih.gov/literature/disease/0007439	0007439	618612	93110	C0238506		basonuclin zinc finger protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital posterior urethral valve"	646
Hutchinson-Gilford syndrome	hgps//hutchinson-gilford disease//hutchinson-gilford progeria//hutchinson-gilford progeria syndrome//premature senility syndrome//progeria syndrome//progeroid laminopathies	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0007467	0007467	176670	740	C0033300	D011371	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hutchinson-Gilford syndrome"	1146
Prolidase deficiency	deficiency of imidodipeptidase//deficiency of prolidase//deficiency of proline dipeptidase//deficiency of xaa-pro dipeptidase//hyperimidodipeptiduria//hyperimidodipeptiduria due to proline dipeptidase deficiency//iminodipeptiduria	PEPD	PEPD	https://raresource.nih.gov/literature/disease/0007473	0007473	170100	742	C0268532	D056732	peptidase D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prolidase deficiency"	229
Prune belly syndrome	abdominal muscle deficiency syndrome//eagle-barret syndrome//obrinsky syndrome//obrisnksy syndrome//prune belly//syndrome of agenesis of abdominal muscles//triad syndrome	CHRM3	CHRM3	https://raresource.nih.gov/literature/disease/0007479	0007479	100100	2970	C0033770	D011535	cholinergic receptor muscarinic 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prune belly syndrome"	779
Deficiency of butyrylcholinesterase	acholinesterasemia//apnea, postanesthetic, susceptibility to, due to bche deficiency//bche, silent 1//bched//butyrylcholinesterase deficiency//deficiency of benzoylcholinesterase//deficiency of butyrylcholine esterase//pseudocholinesterase deficiency	BCHE	BCHE	https://raresource.nih.gov/literature/disease/0007482	0007482	617936	132	C1283400	C537417	butyrylcholinesterase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of butyrylcholinesterase"	105
Pseudohypoparathyroidism type I A	aho-php syndrome ia//albright hereditary osteodystrophy//albright hereditary osteodystrophy with multiple hormone resistance//albright hereditary osteodystrophy, classical type//albright hereditary osteodystrophy-php syndrome ia//albright's hereditary osteodystrophy//php ia//php1a//pseudohypoparathyroidism ia//pseudohypoparathyroidism ia (php-ia)//pseudohypoparathyroidism type 1a	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0007486	0007486	103580	79443	C3494506	C537045	GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoparathyroidism type I A"	1220
Pyruvate carboxylase deficiency	ataxia with lactic acidosis ii//ataxia with lactic acidosis type 2//ataxia with lactic acidosis type ii//deficiency of pyruvate carboxylase//deficiency of pyruvic carboxylase//leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency//leigh syndrome due to pc deficiency//leigh syndrome due to pyruvate carboxylase deficiency//pc - pyruvate carboxylase deficiency//pc deficiency//pyruvate carboxylase deficiency disease	PC	PC	https://raresource.nih.gov/literature/disease/0007512	0007512	266150	3008	C0034341	D015324	pyruvate carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate carboxylase deficiency"	291
Pyruvate kinase deficiency of red cells	anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient//cnsha2//deficiency of phosphoenol transphosphorylase//deficiency of phosphoenolpyruvate kinase//deficiency of pyruvate kinase//hemolytic anaemia due to pyruvate kinase deficiency//hemolytic anaemia due to red cell pyruvate kinase deficiency//hemolytic anemia due to pyruvate kinase deficiency//hemolytic anemia due to red cell pyruvate kinase deficiency//pk - pyruvate kinase deficiency//pk deficiency//pyruvate kinase deficiency//pyruvate kinase deficiency of erythrocyte//pyruvate kinase deficiency of erythrocytes//pyruvate kinase deficiency, amish type	PKLR	PKLR	https://raresource.nih.gov/literature/disease/0007514	0007514	266200	766	C0340968	C564858	pyruvate kinase L/R	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate kinase deficiency of red cells"	597
Ramon syndrome	cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth//cherubism-gingival fibromatosis-intellectual disability syndrome	ELMO2	ELMO2	https://raresource.nih.gov/literature/disease/0007523	0007523	266270	3019	C0796133	C535285	engulfment and cell motility 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ramon syndrome"	11
Familial renal glucosuria	familial renal glycosuria//glys//renal diabetes//renal glucosuria, autosomal dominant//renal glycosuria//sglt2 deficiency	SLC5A2	SLC5A2	https://raresource.nih.gov/literature/disease/0007548	0007548	233100	69076	C3245525	D006030	solute carrier family 5 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial renal glucosuria"	360
Retinoblastoma	rb//rb - retinoblastoma//rb1//retina tumor//retina tumour//retinoblastoma - morphology//retinoblastoma, malignant//retinoblastoma, somatic	RB1	RB1	https://raresource.nih.gov/literature/disease/0007563	0007563		790	C0035335	D012175	RB transcriptional corepressor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinoblastoma"	13624
Familial dysautonomia	dominant hereditary sensory neuropathy, type iii//dysautonomia, familial//fd//hereditary sensory and autonomic neuropathy 3//hereditary sensory and autonomic neuropathy type 3//hereditary sensory and autonomic neuropathy type iii//hereditary sensory and autonomic neuropathy, type iii//hereditary sensory neuropathy type 3//hsan 3//hsan iii//hsan3//hsn 3//neuropathy, hereditary sensory and autonomic, type 3//neuropathy, hereditary sensory and autonomic, type iii//riley day syndrome//riley-day syndrome	ELP1	ELP1	https://raresource.nih.gov/literature/disease/0007581	0007581	223900	1764	C0013364	D004402	elongator acetyltransferase complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial dysautonomia"	5586
Saethre-Chotzen syndrome	acrocephalosyndactyly type 3//acrocephalosyndactyly, type iii//acrocephaly, skull asymmetry, and mild syndactyly//acs iii//acs3//chotzen syndrome//saethre-chotzen syndrome with or without eyelid anomalies//saethre-chotzen syndrome, fgfr2-related//scs//type iii acrocephalosyndactyly	TWIST1;FGFR2	TWIST1;FGFR2	https://raresource.nih.gov/literature/disease/0007598	0007598	101400	794	C0175699		twist family bHLH transcription factor 1; fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Saethre-Chotzen syndrome"	865
Sandhoff disease, infantile form	hexosaminidases a and b deficiency, infantile form//infantile gm2 gangliosidosis 0 variant//sandhoff disease, infantile type	HEXB	HEXB	https://raresource.nih.gov/literature/disease/0007604	0007604		309155	C0751490		hexosaminidase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sandhoff disease, infantile form"	None
Sarcoidosis	benign lymphogranulomatosis of schaumann//besnier-boeck-schaumann disease//besnier-boeck-schaumann syndrome//boeck sarcoid//boeck's sarcoid//boeck's sarcoidosis//darier-roussy sarcoid//lupus pernio of besnier//lymphogranulomatosis//miliary lupoid of boeck//sarcoid	HLA-DRB1	HLA-DRB1	https://raresource.nih.gov/literature/disease/0007607	0007607	181000	797	C0036202	D012507	major histocompatibility complex, class II, DR beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sarcoidosis"	25641
X-linked scapuloperoneal muscular dystrophy	scapuloperoneal myopathy, fhl1-related//scapuloperoneal myopathy, x-linked dominant, x-linked dominant//x-linked scapuloperoneal syndrome//x-linked spmd	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0007608	0007608	300695	431272	C2678061		four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked scapuloperoneal muscular dystrophy"	2
Septo-optic dysplasia sequence	de morsier syndrome//hesx1-related combined pituitary hormone deficiency//septo optic dysplasia//septo-optic dysplasia//septo-optic dysplasia spectrum//septooptic dysplasia//sod	HESX1	HESX1	https://raresource.nih.gov/literature/disease/0007627	0007627	182230	3157	C0338503	D025962	HESX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Septo-optic dysplasia sequence"	880
Sezary syndrome	ctcl / sezary syndrome//cutaneous t-cell lymphoma/sezary syndrome//sc)zary syndrome//sezary disease//sezary lymphoma//sezary syndrome, somatic//sezary's disease//sézary disease//sézary lymphoma//sézary syndrome//sézary's disease//sézary's syndrome	TNFRSF1B	TNFRSF1B	https://raresource.nih.gov/literature/disease/0007629	0007629		3162	C0036920	D012751	TNF receptor superfamily member 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sezary syndrome"	2521
SHORT syndrome	aarskog-ose-pande syndrome//lipodystrophy, partial, with rieger anomaly and short stature//lipodystrophy-rieger anomaly-diabetes syndrome//rieger anomaly-partial lipodystrophy syndrome//short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay	PIK3R1	PIK3R1	https://raresource.nih.gov/literature/disease/0007633	0007633	269880	3163	C0878684	C537327	phosphoinositide-3-kinase regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SHORT syndrome"	75
Sialidosis type 1	cherry red spot myoclonus syndrome//cherry-red spot-myoclonus syndrome//lipomucopolysaccharidosis//normomorphic sialidosis//normosomatic sialidosis//sialidosis type i	NEU1	NEU1	https://raresource.nih.gov/literature/disease/0007639	0007639		812	C0023806		neuraminidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sialidosis type 1"	86
Simpson-Golabi-Behmel syndrome	bulldog syndrome//dgsx//golabi-rosen syndrome//sara angers syndrome//sdys//sgb syndrome//sgbs//sgbs1//simpson dysmorphia syndrome//x-linked dysplasia gigantism syndrome	GPC3	GPC3	https://raresource.nih.gov/literature/disease/0007649	0007649		373	C4317043	C537340	glypican 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Simpson-Golabi-Behmel syndrome"	332
Sitosterolemia	phytosterolemia//stsl	ABCG5;ABCG8	ABCG5;ABCG8	https://raresource.nih.gov/literature/disease/0007653	0007653		2882	C0342907	C537345	ATP binding cassette subfamily G member 5; ATP binding cassette subfamily G member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sitosterolemia"	397
Sjögren-Larsson syndrome	faldh deficiency//fao - fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency//fatty acid alcohol oxidoreductase deficiency//fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency//fatty alcohol:nad+ oxidoreductase deficiency//fatty aldehyde dehydrogenase deficiency//ichthyosis, spastic neurologic disorder, and oligophrenia//senior-løken syndrome//sjogren larsson syndrome//sjogren-larsson syndrome//sjogren-larsson's syndrome//sls	ALDH3A2	ALDH3A2	https://raresource.nih.gov/literature/disease/0007654	0007654	270200	816	C0037231	D016111	aldehyde dehydrogenase 3 family member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sjögren-Larsson syndrome"	632
Sneddon syndrome	ehrmann sneddon syndrome//ehrmann-sneddon syndrome//idiopathic livedo reticularis with systemic involvement//livedo racemosa and cerebrovascular accident//livedo racemosa-cerebrovascular accident syndrome//livedo reticularis and cerebrovascular accident syndrome//livedo reticularis and cerebrovascular accidents//livedo reticularis-cerebrovascular accident syndrome//sndns	ADA2	ADA2	https://raresource.nih.gov/literature/disease/0007664	0007664	182410	820	C0282492	D018860	adenosine deaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sneddon syndrome"	169
Split hand-foot malformation 1	shfd1//shfm1//split hand deformity 1//split hand foot deformity 1//split hand malformation1//split hand-foot malformation type 1//split-hand/foot deformity 1//split-hand/foot malformation 1 with or without deafness//split-hand/foot malformation type 1	DLX5	DLX5	https://raresource.nih.gov/literature/disease/0007685	0007685			C2931019		distal-less homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Split hand-foot malformation 1"	20
Gerstmann-Straussler-Scheinker syndrome	cerebellar ataxia, progressive dementia, and amyloid deposits in cns//cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system//encephalopathy subacute spongiform gerstmann-straussler type//gerstmann-straussler disease//gerstmann-straussler-scheinker disease//gsd//gss - gerstmann-straussler-scheinker syndrome//prion dementia//spinocerebellar ataxia and plaque-like deposits//subacute spongiform encephalopathy, gerstmann-straussler type	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0007690	0007690	137440	356	C0017495	C535800;D016098	prion protein (Kanno blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gerstmann-Straussler-Scheinker syndrome"	1085
Succinate-semialdehyde dehydrogenase deficiency	4-hydroxybutyric aciduria//gaba metabolic defect//gabauria//gamma-hydroxybutyric acidemia//gamma-hydroxybutyric aciduria//ssadh//ssadh (succinic semialdehyde dehydrogenase) deficiency//ssadh deficiency//ssadhd//succinic semialdehyde dehydrogenase deficiency	ALDH5A1	ALDH5A1	https://raresource.nih.gov/literature/disease/0007695	0007695	271980	22	C0268631	C535803	aldehyde dehydrogenase 5 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Succinate-semialdehyde dehydrogenase deficiency"	281
Stevens-Johnson syndrome	dermatostomatitis, stevens johnson type	HLA-A;HLA-B	HLA-A;HLA-B	https://raresource.nih.gov/literature/disease/0007700	0007700	608579	36426	C0038325	D013262	major histocompatibility complex, class I, A; major histocompatibility complex, class I, B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stevens-Johnson syndrome"	26
Gastric cancer	ca - cancer of stomach//ca lesser curvature - stomach//cancer of stomach//gastric cancer risk after h. pylori infection//gastric cancer, somatic//gc//malignant gastric neoplasm//malignant gastric tumor//malignant gastric tumour//malignant neoplasm of lesser curve of stomach//malignant neoplasm of stomach//malignant neoplasm of the stomach//malignant stomach neoplasm//malignant tumor of body of stomach//malignant tumor of greater curve of stomach//malignant tumor of lesser curve of stomach//malignant tumor of stomach//malignant tumor of the stomach//malignant tumour of body of stomach//malignant tumour of greater curve of stomach//malignant tumour of lesser curve of stomach//malignant tumour of stomach//malignant tumour of the stomach//stomach cancer	KLF6;CASP10;IL1RN;MUTYH;ERBB2;PIK3CA;IL1B;IRF1;KRAS;APC;FGFR2	KLF6;CASP10;IL1RN;MUTYH;ERBB2;PIK3CA;IL1B;IRF1;KRAS;APC;FGFR2	https://raresource.nih.gov/literature/disease/0007704	0007704	613659		C0024623		KLF transcription factor 6; caspase 10; interleukin 1 receptor antagonist; mutY DNA glycosylase; erb-b2 receptor tyrosine kinase 2; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; interleukin 1 beta; interferon regulatory factor 1; KRAS proto-oncogene, GTPase; APC regulator of WNT signaling pathway; fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gastric cancer"	87821
Sturge-Weber syndrome	angiomatosis oculo-orbital-thalamo-encephalic syndrome//encephalocutaneous angiomatosis//encephalofacial angiomatosis//encephalofacial hemangiomatosis//encephalotrigeminal angiomatosis//encephalotrigeminal syndrome//fourth phacomatosis//leptomeningeal angiomatosis//meningeal capillary angiomatosis//neuroretinoangiomatosis//sturge-kalischer-weber syndrome//sturge-weber disease//sturge-weber sequence//sturge-weber syndrome, somatic, mosaic//sturge-weber-dimitri syndrome//sturge-weber-krabbe angiomatosis//sturge-weber-krabbe syndrome//sws//sws type i - facial and leptomeningeal angiomas//sws type ii - facial angioma alone, no cns involvement//sws type iii - isolated leptomeningeal angiomas	GNAQ	GNAQ	https://raresource.nih.gov/literature/disease/0007706	0007706	185300	3205	C0038505	D013341	G protein subunit alpha q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sturge-Weber syndrome"	1828
Tangier disease	analphalipoproteinemia//atp-binding cassette transporter a1 deficiency//cholesterol thesaurismosis//defective adenosine triphosphate-binding cassette transporter a1//familial alpha-lipoprotein deficiency//familial high density lipoprotein deficiency//high density lipoprotein deficiency, tangier type//high density lipoprotein deficiency, type 1//tgd	ABCA1	ABCA1	https://raresource.nih.gov/literature/disease/0007731	0007731	205400	31150	C0039292	D013631	ATP binding cassette subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tangier disease"	1397
Tay-Sachs disease	disease, tay-sachs//gm2 gangliosidosis, b, b1 variant//gm2 gangliosidosis, type 1//gm2-gangliosidosis, several forms//hex a pseudodeficiency//hexa deficiency//hexosaminidase a deficiency//hexosaminidase alpha-subunit deficiency (variant b)//severe hexosaminidase a deficiency//sphingolipidosis, tay-sachs//tsd	HEXA	HEXA	https://raresource.nih.gov/literature/disease/0007737	0007737	272800	845	C0039373	D013661	hexosaminidase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tay-Sachs disease"	1455
Tietz syndrome	albinism-deafness of tietz//albinism-deafness syndrome of tietz//hypopigmentation-deafness syndrome//hypopigmentation-hearing loss syndrome//hypopigmentation/deafness of tietz//tads//tietz albinism-deafness syndrome	MITF	MITF	https://raresource.nih.gov/literature/disease/0007772	0007772	103500	42665	C0391816	C536919	melanocyte inducing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tietz syndrome"	55
Townes syndrome	imperforate anus with hand, foot and ear anomalies//imperforate anus-hand, foot and ear anomalies syndrome//rear syndrome//renal-ear-anal-radial syndrome//sensorineural deafness with imperforate anus and hypoplastic thumbs//sensorineural hearing loss with imperforate anus and hypoplastic thumbs//tbs//townes brocks syndrome//townes-brocks syndrome	DACT1;SALL1	DACT1;SALL1	https://raresource.nih.gov/literature/disease/0007784	0007784		857	C0265246	C536974	dishevelled binding antagonist of beta catenin 1; spalt like transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Townes syndrome"	275
Tricho-dento-osseous syndrome	amelogenesis imperfecta - osteosclerosis syndrome//taurodontism - curly hair - osteosclerosis syndrome//tdo//tdo - trichodento-osseous syndrome//tdo syndrome//trichodontoosseous syndrome	DLX3	DLX3	https://raresource.nih.gov/literature/disease/0007799	0007799	190320	3352	C0265333	C536549	distal-less homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tricho-dento-osseous syndrome"	87
Trichorhinophalangeal dysplasia type I	sugio-kajii syndrome//trichorhinophalangeal dysplasia (syndrome) types 1/3//trichorhinophalangeal dysplasia types 1/3//trichorhinophalangeal syndrome i//trichorhinophalangeal syndrome type 1//trichorhinophalangeal syndrome type i//trichorhinophalangeal syndrome, type 1//trichorhinophalangeal syndrome, type i//trps 1//trps i//trps i - trichorhinophalangeal syndrome i//trps1//type i trichorhinophalangeal syndrome//type iii trichorhinophalangeal syndrome	TRPS1	TRPS1	https://raresource.nih.gov/literature/disease/0007800	0007800	190350		C0432233	C536820	transcriptional repressor GATA binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichorhinophalangeal dysplasia type I"	86
Tuberous sclerosis syndrome	adenoma sebaceum syndrome//bourneville disease//bourneville syndrome//bourneville's disease//bourneville's syndrome//cerebral sclerosis//epiloia//ts - tuberous sclerosis//tsc//tuberose sclerosis//tuberous sclerosis//tuberous sclerosis complex	TSC2;TSC1	TSC2;TSC1	https://raresource.nih.gov/literature/disease/0007830	0007830		805	C0041341	D014402	TSC complex subunit 2; TSC complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tuberous sclerosis syndrome"	9403
Cutaneous mastocytosis	cm//cutaneous (skin) mastocytosis//cutaneous mastocytosis (disease)//mastocytosis, cutaneous//mastocytosis, maculopapular cutaneous//mastocytosis, systemic, somatic	KIT	KIT	https://raresource.nih.gov/literature/disease/0007842	0007842		66646	C1136033	D034701	KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutaneous mastocytosis"	7350
Van der Woude syndrome 2	grhl3 van der woude syndrome//van der woude syndrome caused by mutation in grhl3//van der woude syndrome type 2//vws2	GRHL3	GRHL3	https://raresource.nih.gov/literature/disease/0007846	0007846	606713		C1847604	C536529	grainyhead like transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van der Woude syndrome 2"	253
Variegate porphyria	dean-barnes syndrome//mixed porphyria//porphyria variegata//porphyria, south african type//ppox deficiency//protocoproporphyria//protoporphyrinogen oxidase deficiency//south african genetic porphyria//south african porphyria//vp//vp - variegate porphyria	PPOX	PPOX	https://raresource.nih.gov/literature/disease/0007848	0007848	176200	79473	C0162532	D046350	protoporphyrinogen oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Variegate porphyria"	1200
Von Hippel-Lindau syndrome	cerebroretinal angiomatosis//familial cerebello-retinal angiomatosis//familial cerebelloretinal angiomatosis//hippel lindau syndrome//lindau disease//lindau' disease//lindau's disease//vhl//vhl (von hippel-lindau) syndrome//vhl syndrome//vhl-related von hippel-lindau disease//vhls//von hippel-lindau//von hippel-lindau disease//von hippel-lindau syndrome (vhl)//von hippel-lindau syndrome, modifier of	VHL	VHL	https://raresource.nih.gov/literature/disease/0007855	0007855	193300	892	C0019562	D006623	von Hippel-Lindau tumor suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Hippel-Lindau syndrome"	568
Pseudopseudohypoparathyroidism	aho-pphp syndrome//albright hereditary osteodystrophy with multiple hormone resistance//albright hereditary osteodystrophy without multiple hormone resistance//albright hereditary osteodystrophy-pphp syndrome//normocalcemic pseudohypoparathyroidism//normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]//pphp	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0007860	0007860	612463	79445	C0033835	D011556	GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudopseudohypoparathyroidism"	225
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	g6p deficiency type 1a//g6pc glycogen storage disease//glucose-6-phosphatase deficiency//glucose-6-phosphatase deficiency glycogen storage disease//glycogen storage disease caused by mutation in g6pc//glycogen storage disease due to g6p deficiency type ia//glycogen storage disease type 1a//glycogen storage disease type ia//glycogenosis due to glucose-6-phosphatase deficiency type 1a//glycogenosis due to glucose-6-phosphatase deficiency type ia//glycogenosis type ia//gsd due to g6p deficiency type 1a//gsd due to g6p deficiency type ia//gsd ia//gsd type 1a//gsd1a//gsdia//hepatorenal form of glycogen storage disease	G6PC1	G6PC1	https://raresource.nih.gov/literature/disease/0007864	0007864	232200	79258	C2919796	C538655	glucose-6-phosphatase catalytic subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	513
Neurofibromatosis, type 1	multiple non-ossifying fibromatosis//neurofibromatosis 1//neurofibromatosis type i//neurofibromatosis, peripheral type//neurofibromatosis, type i//neurofibromatosis, type i, somatic//nf1//nf1 - neurofibromatosis type 1//nf1-microdeletion syndrome//nonmosaic neurofibromatosis type 1//nonmosaic nf1//peripheral type neurofibromatosis//von recklinghausen disease	NF1	NF1	https://raresource.nih.gov/literature/disease/0007866	0007866		636	C0027831	D009456	neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis, type 1"	9048
Wagner disease	dominant hyaloideoretinal dystrophy of wagner//erosive vitreoretinopathy//hyaloideoretinal degeneration of wagner//vcan-related vitreoretinopathy//vitreoretinal degeneration, wagner type//wagner syndrome//wagner syndrome 1//wagner vitreoretinal degeneration//wagner vitreoretinopathy	VCAN	VCAN	https://raresource.nih.gov/literature/disease/0007871	0007871	143200	898	C1840452	C536075	versican	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wagner disease"	159
Waldenstrom macroglobulinemia	lymphoplasmacytic lymphoma with igm gammopathy//macroglobulinemia//primary macroglobulinemia//waldenstrom's macroglobulinemia//waldenström macroglobulinemia	MYD88	MYD88	https://raresource.nih.gov/literature/disease/0007872	0007872		33226	C0024419	D008258	MYD88 innate immune signal transduction adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waldenstrom macroglobulinemia"	2689
Weaver syndrome	camptodactyly-overgrowth-unusual facies syndrome//overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly//weaver smith syndrome//weaver-like syndrome//wvs	EZH2	EZH2	https://raresource.nih.gov/literature/disease/0007878	0007878	277590	3447	C0265210	C536687	enhancer of zeste 2 polycomb repressive complex 2 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weaver syndrome"	139
Werdnig-Hoffmann disease	hereditary motor neuropathy proximal type i//hmn (hereditary motor neuropathy) proximal type i//infantile spinal muscular atrophy//infantile-onset spinal muscular atrophy//muscular atrophy, infantile//progressive muscular atrophy of infancy//proximal spinal muscular atrophy type 1//severe infantile spinal muscular atrophy//sma i//sma type 1//sma type i//sma, infantile acute form//sma-i//sma1//smni//spinal muscular atrophy type i//spinal muscular atrophy, type 1//spinal muscular atrophy, type i//spinal muscular atrophy-1//survival motor neuron spinal muscular atrophy//werdnig-hoffman disease//whd - werdnig-hoffmann disease	SMN1	SMN1	https://raresource.nih.gov/literature/disease/0007883	0007883	253300	83330	C5848259		survival of motor neuron 1, telomeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Werdnig-Hoffmann disease"	825
Werner syndrome	adult premature ageing syndrome//adult premature aging syndrome//adult progeria//pangeria//progeria of the adult//werner's syndrome//wrn//ws	WRN	WRN	https://raresource.nih.gov/literature/disease/0007885	0007885	277700	902	C0043119	D014898	WRN RecQ like helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Werner syndrome"	3875
Wieacker-Wolff syndrome	apraxia, oculomotor, with congenital contractures and muscle atrophy//contractures of feet, muscle atrophy, and oculomotor apraxia//foot contracture, muscle atrophy, oculomotor apraxia syndrome//foot contractures-muscle atrophy-oculomotor apraxia syndrome//intellectual disability, developmental delay, contracture syndrome//intellectual disability-developmental delay-contractures syndrome//mcs//mental retardation, x-linked, syndromic 4//mental retardation, x-linked, with congenital contractures and low fingertip arches//miles-carpenter syndrome//miles-carpenter x-linked mental retardation syndrome//mrxs4//wieacker syndrome//wieacker-wolff syndrome, x-linked//wieacker-wolff syndrome, x-linked recessive//wieacker-wolff, x-linked recessive//wrwf//wrwfxlr//x-linked intellectual disability, miles-carpenter type//zc4h2-associated rare disorders (zard)	ZC4H2	ZC4H2	https://raresource.nih.gov/literature/disease/0007890	0007890	314580	3454	C0796200	C536703	zinc finger C4H2-type containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wieacker-Wolff syndrome"	1249
Williams syndrome	chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb//deletion 7q11.23//fanconi schlesinger syndrome//monosomy 7q11.23//wbs//william syndrome//williams beuren syndrome//williams-beuren syndrome//williams-beuren syndrome (wbs)	ELN;MLXIPL	ELN;MLXIPL	https://raresource.nih.gov/literature/disease/0007891	0007891	194050	904	C0175702	D018980	elastin; MLX interacting protein like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Williams syndrome"	2752
Kidney Wilms tumor	nephroblastoma//nephroblastoma, malignant//renal embryonic tumor//renal embryonic tumour//renal wilms tumor//renal wilms tumour//renal wilms' tumor//renal wilms' tumour//wilms tumor of the kidney//wilms tumour of the kidney//wilms' tumor//wilms' tumor of the kidney//wilms' tumour of the kidney	TRIP13;TRIM28;WT1;CTR9	TRIP13;TRIM28;WT1;CTR9	https://raresource.nih.gov/literature/disease/0007892	0007892		654	CN305775		thyroid hormone receptor interactor 13; tripartite motif containing 28; WT1 transcription factor; CTR9 homolog, Paf1/RNA polymerase II complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kidney Wilms tumor"	9089
Wilson disease	cerebral pseudosclerosis//copper storage disease//hepatocerebral degeneration//hepatolenticular degeneration//hepatolenticular degeneration syndrome//kinnier-wilson disease//neurohepatic degeneration//progressive lenticular degeneration//pseudosclerotic type of wilson's disease//wd - wilson's disease//westphal pseudosclerosis//westphal-strumpell cerebral pseudosclerosis//westphal-strumpell form of wilson's disease//westphal-strumpell syndrome//wilson's disease//wnd	ATP7B	ATP7B	https://raresource.nih.gov/literature/disease/0007893	0007893	277900	905	C0019202	D006527	ATPase copper transporting beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilson disease"	7467
Winchester syndrome	mmp14-related multicentric osteolysis, nodulosis, and arthropathy//mona, mmp14-related//multicentric osteolysis, nodulosis and arthropathy, mmp14-related//wnchrs	MMP14	MMP14	https://raresource.nih.gov/literature/disease/0007894	0007894	277950		C0432289	C536709	matrix metallopeptidase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Winchester syndrome"	27
Wiskott-Aldrich syndrome	aldrich syndrome//eczema, thrombocytopenia, immunodeficiency syndrome//eczema-thrombocytopenia-immunodeficiency syndrome//immunodeficiency 2//immunodeficiency with thrombocytopenia and eczema//was//was - wiskott-aldrich syndrome//wiskott syndrome//wiskott-aldrich syndrome 1//wiskott-aldrich syndrome, somatic//wiskott-aldrich syndrome, x-linked recessive	WAS	WAS	https://raresource.nih.gov/literature/disease/0007895	0007895	301000	906	C0043194	D014923	WASP actin nucleation promoting factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wiskott-Aldrich syndrome"	2542
4p partial monosomy syndrome	4p deletion syndrome//4p minus syndrome//4p- syndrome//chromosome 4 short arm deletion syndrome//chromosome 4p16.3 deletion syndrome//deletion of short arm of chromosome 4//distal deletion 4p//distal monosomy 4p//midline fusion defect syndrome//pitt syndrome//pitt-rogers-danks syndrome//telomeric deletion 4p//whs//wittwer syndrome//wolf hirschhorn syndrome//wolf-hirschhorn syndrome//wolf-hirschhorn syndrome, isolated cases	CPLX1;FGFRL1;LETM1;NSD2;CTBP1	CPLX1;FGFRL1;LETM1;NSD2;CTBP1	https://raresource.nih.gov/literature/disease/0007896	0007896	194190	280	C1956097	D054877	complexin 1; fibroblast growth factor receptor like 1; leucine zipper and EF-hand containing transmembrane protein 1; nuclear receptor binding SET domain protein 2; C-terminal binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=4p partial monosomy syndrome"	640
Wolfram syndrome	diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome//diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome//diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome//diabetes mellitus and insipidus with optic atrophy and deafness//didmoad//didmoad (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome//didmoad syndrome//marquardt-loriaux syndrome//wfs	CISD2;WFS1	CISD2;WFS1	https://raresource.nih.gov/literature/disease/0007898	0007898		3463	C0043207	D014929	CDGSH iron sulfur domain 2; wolframin ER transmembrane glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolfram syndrome"	839
Wolman disease	acid cholesteryl ester hydrolase deficiency, wolman type//acid esterase deficiency//acid lipase deficiency//acid lipase disease//cholesterol ester hydrolase deficiency, complete//deficiency of cholesterol esterase and triacylglycerol lipase//familial visceral xanthomatosis//lal deficiency, complete//lipa deficiency, complete//lysosomal acid lipase deficiency, acute infantile//lysosomal acid lipase deficiency, complete//primary familial xanthomatosis//primary familial xanthomatosis with adrenal calcification//wold//wolman disease with hypolipoproteinemia and acanthocytosis//wolman disease, cesd//wolman xanthomatosis//wolman's disease//wolman's or triglyceride storage type iii disease//xanthomatosis, familial	LIPA	LIPA	https://raresource.nih.gov/literature/disease/0007899	0007899	620151	75233	C0043208	C564736;D015223	lipase A, lysosomal acid type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolman disease"	348
X-linked ichthyosis with steryl-sulfatase deficiency	ichthyosis (disease), x-linked//ichthyosis , x-linked, x-linked recessive//ichthyosis, x linked//ichthyosis, x-linked//placental steroid sulfatase deficiency//recessive x-linked ichthyosis//rxli//sex-linked ichthyosis//steroid sulfatase deficiency//steroid sulfatase deficiency disease//sts deficiency//x-linked ichthyosis//x-linked ichthyosis with steryl-sulphatase deficiency//x-linked placental steryl-sulphatase deficiency//x-linked recessive ichthyosis//xli	STS	STS	https://raresource.nih.gov/literature/disease/0007904	0007904	308100	461	C0079588	D016114	steroid sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked ichthyosis with steryl-sulfatase deficiency"	537
X-linked lymphoproliferative disease due to SH2D1A deficiency	ebv infection severe susceptibility to//epstein barr virus infection familial fatal//immunodeficiency 5//immunodeficiency, x-linked progressive combined variable//infectious mononucleosis, severe, susceptibility to//lymphoproliferative syndrome, x-linked, 1, x-linked recessive//sap deficiency//sh2d1a-related lymphoproliferative disease, x-linked//sh2d1a/slam-associated protein deficiency//x-linked lymphoproliferative syndrome type 1//xlp1	SH2D1A	SH2D1A	https://raresource.nih.gov/literature/disease/0007906	0007906	308240	538931	C5399825		SH2 domain containing 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked lymphoproliferative disease due to SH2D1A deficiency"	102
Xeroderma pigmentosum	angioma pigmentosum atrophicum//atrophoderma pigmentosum//kaposi dermatosis//kaposi disease//melanosis lenticularis progressiva//pigmented epitheliomatosis//xeroderma of kaposi//xeroderma pigmentosum syndrome//xp//xp - xeroderma pigmentosum	ERCC3;XPC;ERCC4;ERCC2;XPA;DDB2;ERCC5	ERCC3;XPC;ERCC4;ERCC2;XPA;DDB2;ERCC5	https://raresource.nih.gov/literature/disease/0007910	0007910		910	C0043346	D014983	ERCC excision repair 3, TFIIH core complex helicase subunit; XPC complex subunit, DNA damage recognition and repair factor; ERCC excision repair 4, endonuclease catalytic subunit; ERCC excision repair 2, TFIIH core complex helicase subunit; XPA, DNA damage recognition and repair factor; damage specific DNA binding protein 2; ERCC excision repair 5, endonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum"	4054
Zellweger spectrum disorders	cerebrohepatorenal syndrome//congenital iron overload//severe pbd-zsd//severe peroxisome biogenesis disorder-zellweger spectrum disorder//zellweger spectrum//zellweger spectrum disorder//zellweger syndrome//zellweger's syndrome//zs//zws	PEX5;PEX26;PEX13;PEX16;PEX19;PEX2;PEX11B;PEX14;PEX6;PEX3;PEX1;PEX10;PEX12	PEX5;PEX26;PEX13;PEX16;PEX19;PEX2;PEX11B;PEX14;PEX6;PEX3;PEX1;PEX10;PEX12	https://raresource.nih.gov/literature/disease/0007917	0007917		912	C0043459	D015211	peroxisomal biogenesis factor 5; peroxisomal biogenesis factor 26; peroxisomal biogenesis factor 13; peroxisomal biogenesis factor 16; peroxisomal biogenesis factor 19; peroxisomal biogenesis factor 2; peroxisomal biogenesis factor 11 beta; peroxisomal biogenesis factor 14; peroxisomal biogenesis factor 6; peroxisomal biogenesis factor 3; peroxisomal biogenesis factor 1; peroxisomal biogenesis factor 10; peroxisomal biogenesis factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zellweger spectrum disorders"	931
Achondroplasia	ach//achondroplastic dwarf//achondroplastic dwarfism//achondroplastic physique//chondrodystrophia//chondrodystrophia fetalis//congenital osteosclerosis//osteosclerosis congenita	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0008173	0008173	100800	15	C0001080	D000130	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achondroplasia"	2409
Hypotrichosis 7	hypotrichosis caused by mutation in liph//hypotrichosis type 7//hypotrichosis, autosomal recessive//hypotrichosis, localized, autosomal recessive 2//hypt7//lah2//liph hypotrichosis//total mari type hypotrichosis,//woolly hair, autosomal recessive 2 with or without hypotrichosis//wooly hair, autosomal recessive 2 with or without hypotrichosis	LIPH	LIPH	https://raresource.nih.gov/literature/disease/0008178	0008178	604379		C1836672	C536973	lipase H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 7"	3
Proximal symphalangism	cushing symphalangism//cushing's symphalangism//hereditary absence of the proximal interphalangeal joints//proximal interphalangeal joint symphalangism cushing type//proximal symphalangism (disease)//symphalangism cushing type//symphalangism, cushing type//vessel's syndrome	GDF5;NOG	GDF5;NOG	https://raresource.nih.gov/literature/disease/0008182	0008182		3250	C1861385	C536223	growth differentiation factor 5; noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal symphalangism"	62
Conotruncal heart malformations	cfc1-related conotruncal heart malformations//conotruncal heart malformations, variable//cthm//taussig-bing syndrome or defect	NKX2-6;TBX1;GATA6;NKX2-5	NKX2-6;TBX1;GATA6;NKX2-5	https://raresource.nih.gov/literature/disease/0008189	0008189	217095	2445	C1857586		NK2 homeobox 6; T-box transcription factor 1; GATA binding protein 6; NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Conotruncal heart malformations"	13
Smith-Magenis syndrome	17p11.2 microdeletion syndrome//chromosome 17p11.2 deletion syndrome//smith-magenis syndrome, isolated cases//sms	RAI1	RAI1	https://raresource.nih.gov/literature/disease/0008197	0008197	182290	819	C0795864	D058496	retinoic acid induced 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-Magenis syndrome"	763
Histiocytic medullary reticulosis	combined immunodeficiency with hypereosinophilia//omenn syndrome//severe combined immunodeficiency with hypereosinophilia	RAG1;DCLRE1C;RAG2	RAG1;DCLRE1C;RAG2	https://raresource.nih.gov/literature/disease/0008198	0008198	603554	39041	C2700553		recombination activating 1; DNA cross-link repair 1C; recombination activating 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Histiocytic medullary reticulosis"	435
Lafora disease	epilepsy progressive myoclonic 2//epilepsy, progressive myoclonic 2a (lafora)//epilepsy, progressive myoclonic 2b (lafora)//epm2//lafora body disease//lafora progressive myoclonic epilepsy//lafora's disease//myoclonic epilepsy of lafora//pme type 2//progressive myoclonic epilepsy type 2//progressive myoclonus epilepsy type 2//progressive myoclonus epilepsy, lafora type	EPM2A;NHLRC1	EPM2A;NHLRC1	https://raresource.nih.gov/literature/disease/0008214	0008214		501	C0751783	D020192	EPM2A glucan phosphatase, laforin; NHL repeat containing E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lafora disease"	630
Choroid plexus carcinoma	anaplastic choroid plexus papilloma//carcinoma of choroid plexus//carcinoma of the choroid plexus//carcinoma, choroid plexus, malignant//choroid plexus carcinoma (morphologic abnormality)//choroid plexus papilloma, anaplastic//choroid plexus papilloma, malignant//cpc	TP53	TP53	https://raresource.nih.gov/literature/disease/0008238	0008238		251899	C0431109	C562943	tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choroid plexus carcinoma"	704
Sea-blue histiocyte syndrome	inherited lipemic splenomegaly//sea-blue histiocyte//sea-blue histiocyte disease//sea-blue histiocytosis	APOE	APOE	https://raresource.nih.gov/literature/disease/0008241	0008241	269600		C0036489	D012618	apolipoprotein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sea-blue histiocyte syndrome"	383
Myelodysplastic syndrome with ring sideroblasts	acquired idiopathic sideroblastic anaemia//acquired idiopathic sideroblastic anemia//aisa//mds with ring sideroblasts//mds-rs//primary acquired sideroblastic anaemia//primary acquired sideroblastic anemia//pure sideroblastic anaemia//pure sideroblastic anemia//rars//refractory anaemia with ring sideroblasts//refractory anaemia with ringed sideroblasts//refractory anemia with ring sideroblasts//refractory anemia with ringed sideroblasts	SF3B1;TET2	SF3B1;TET2	https://raresource.nih.gov/literature/disease/0008249	0008249		75564	C4016601		splicing factor 3b subunit 1; tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myelodysplastic syndrome with ring sideroblasts"	342
Keratolytic winter erythema	erythrokeratolysis hiemalis//kwe//oudtshoorn disease//oudtshoorn skin disease//winter erythrokeratolysis	CTSB	CTSB	https://raresource.nih.gov/literature/disease/0008275	0008275	148370	50943	C0406756	C536155	cathepsin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratolytic winter erythema"	19
DE SANCTIS-CACCHIONE SYNDROME	ercc6	ERCC6	ERCC6	https://raresource.nih.gov/literature/disease/0008276	0008276	278800		C0265201	C535992	ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DE SANCTIS-CACCHIONE SYNDROME"	39
Cataract 40	cataract 40 with or without microcornea//cataract 40 x-linked//cataract 40, x-linked//cataract type 40//cataract, congenital total, with posterior sutural opacities in heterozygotes//ctrct40//early-onset non-syndromic cataract caused by mutation in nhs//nhs early-onset non-syndromic cataract	NHS	NHS	https://raresource.nih.gov/literature/disease/0008278	0008278	302200		C4049004	C535338	NHS actin remodeling regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 40"	None
Familial visceral amyloidosis, Ostertag type	amyld2//amyloid nephropathy of ostertag//amyloidosis viii//amyloidosis, 3 or more types//amyloidosis, familial renal//amyloidosis, hepatic and systemic//amyloidosis, hereditary systemic 2//amyloidosis, ostertag type//amyloidosis, renal//apoa1-related familial visceral amyloidosis//familial amyloid nephropathy//familial renal amyloidosis//familial visceral amyloidosis//fga-related familial visceral amyloidosis//german type amyloidosis//hereditary amyloid nephropathy//hereditary amyloidosis with primary renal involvement//hereditary renal amyloidosis//lyz-related familial visceral amyloidosis//ostertag type amyloidosis//systemic nonneuropathic amyloidosis	FGA	FGA	https://raresource.nih.gov/literature/disease/0008282	0008282	105200	85450	C0268389	C538249	fibrinogen alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial visceral amyloidosis, Ostertag type"	42
Mitochondrial complex III deficiency	deficiency of isolated coq cytochrome c reductase//deficiency of mitochondrial complex iii//deficiency of ubiquinone cytochrome c oxidoreductase//isolated coenzyme q-cytochrome c reductase deficiency//isolated complex iii deficiency//isolated coq-cytochrome c reductase deficiency//isolated mitochondrial respiratory chain complex iii deficiency//isolated ubiquinone-cytochrome c reductase deficiency//mc3dn1//mitochondrial respiratory chain complex iii deficiency	UQCRC2;UQCRFS1;TTC19;LYRM7;UQCRB;UQCRQ;MT-CYB;BCS1L;UQCC2;CYC1;UQCC3	UQCRC2;UQCRFS1;TTC19;LYRM7;UQCRB;UQCRQ;MT-CYB;BCS1L;UQCC2;CYC1;UQCC3	https://raresource.nih.gov/literature/disease/0008295	0008295		1460	C1852372		ubiquinol-cytochrome c reductase core protein 2; ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1; tetratricopeptide repeat domain 19; LYR motif containing 7; ubiquinol-cytochrome c reductase binding protein; ubiquinol-cytochrome c reductase complex III subunit VII; mitochondrially encoded cytochrome b; BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone; ubiquinol-cytochrome c reductase complex assembly factor 2; cytochrome c1; ubiquinol-cytochrome c reductase complex assembly factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency"	326
Tibia, hypoplasia or aplasia of, with polydactyly	absent tibia-polydactyly syndrome//hypoplastic or aplastic tibia with polydactyly//hypoplastic tibiae-postaxial polydactyly syndrome//mesomelic dysplasia, werner type//polydactyly with absent tibia//thyp//tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia//tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome//werner mesomelic spectrum//werner mesomelic syndrome	LMBR1;SHH	LMBR1;SHH	https://raresource.nih.gov/literature/disease/0008309	0008309	188740	988	C1861098	C535564;C566046	limb development membrane protein 1; sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tibia, hypoplasia or aplasia of, with polydactyly"	143
Steinert myotonic dystrophy syndrome	dm1//dmpk myotonic dystrophy//dystrophia myotonica type 1//md1//myotonic dystrophy caused by mutation in dmpk//myotonic dystrophy of steinert//myotonic dystrophy type 1//steinert disease//steinert myotonic dystrophy//steinert syndrome//steinert's disease	DMPK	DMPK	https://raresource.nih.gov/literature/disease/0008310	0008310	160900	273	C3250443		DM1 protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Steinert myotonic dystrophy syndrome"	3261
Pseudo von Willebrand disease	bdplt3//bleeding disorder, platelet-type, 3//platelet type pseudo-von willebrand disease//platelet type-von willebrand disease//platelet-type von willebrand disease//pseudo-von willebrand disease type 2b//pt-vwd//pt-vwd - platelet type-von willebrand disease//von willebrand disease platelet-type//vwdp	GP1BA	GP1BA	https://raresource.nih.gov/literature/disease/0008312	0008312	177820	52530	C1280798	C536458	glycoprotein Ib platelet subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo von Willebrand disease"	69
Atelosteogenesis type II	ao2//aoii//atelosteogenesis de la chapelle type//atelosteogenesis type 2//neonatal osseous dysplasia 1//neonatal osseous dysplasia i//neonatal osseous dysplasia type 1	SLC26A2	SLC26A2	https://raresource.nih.gov/literature/disease/0008329	0008329	256050	56304	C1850554	C535395	solute carrier family 26 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atelosteogenesis type II"	37
Deafness dystonia syndrome	ddon syndrome//deafness dystonia optic atrophy syndrome//deafness dystonia optic neuronopathy syndrome//deafness dystonia optic neuronopathy syndrome (ddon)//deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency//deafness-dystonia-optic atrophy syndrome//deafness-dystonia-optic neuronopathy syndrome//dystonia deafness syndrome//dystonia-deafness syndrome, x-linked//hearing loss-dystonia-optic neuronopathy syndrome//mohr-tranebjaerg syndrome//mohr-tranebjaerg syndrome, x-linked recessive//mts//nerve deafness optic nerve atrophy, and dementia//opticoacoustic nerve atrophy with dementia//opticoacustic nerve atrophy with dementia//syndrome of opticoacoustic nerve atrophy with dementia	TIMM8A	TIMM8A	https://raresource.nih.gov/literature/disease/0008331	0008331	304700	52368	C0796074	C535808	translocase of inner mitochondrial membrane 8A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness dystonia syndrome"	1101
Human HOXA1 syndromes	abds//absd//athabascan brainstem dysgenesis syndrome//athabaskan brainstem dysgenesis syndrome//navajo brainstem syndrome	HOXA1	HOXA1	https://raresource.nih.gov/literature/disease/0008333	0008333	601536	69739	C1832215		homeobox A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Human HOXA1 syndromes"	66
Nemaline myopathy 5	amish nemaline myopathy//anm//nem5//nem5a//nemaline myopathy 5, amish type//nemaline myopathy 5a, autosomal recessive, severe infantile//nemaline myopathy caused by mutation in tnnt1//nemaline myopathy type 5//nemaline myopathy, amish type//tnnt1 nemaline myopathy	TNNT1	TNNT1	https://raresource.nih.gov/literature/disease/0008334	0008334	605355	98902	C1854380	C538397	troponin T1, slow skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 5"	58
Marinesco-Sjögren syndrome	garland-moorhouse syndrome//hereditary oligophrenic cerebello-lental degeneration//marinesco-garland syndrome//marinesco-sjogren syndrome//marshall smith syndrome//mss//oligophrenic cerebellolenticular degeneration	SIL1	SIL1	https://raresource.nih.gov/literature/disease/0008341	0008341	248800	559	C0024814		SIL1 nucleotide exchange factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marinesco-Sjögren syndrome"	780
ABri amyloidosis	cerebral amyloid angiopathy, british type//cerebral amyloid angiopathy, itm2b-related, 1//cerebral amyloid angiopathy, itm2b-related, type 1//familial british dementia//familial british dementia with amyloid angiopathy//familial dementia british type//familial dementia, british type//fbd//presenile dementia with spastic ataxia	ITM2B	ITM2B	https://raresource.nih.gov/literature/disease/0008344	0008344	176500	97345	C5190835	C538208	integral membrane protein 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABri amyloidosis"	343
Quebec platelet disorder	bdplt5//bleeding disorder, platelet-type, 5//factor v quebec//platelet-type bleeding disorder 5//qpd	PLAU	PLAU	https://raresource.nih.gov/literature/disease/0008345	0008345	601709	220436	C1866423	C536260	plasminogen activator, urokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Quebec platelet disorder"	44
Amelogenesis imperfecta type 2	amelogenesis imperfecta - hypomaturation//amelogenesis imperfecta hypomaturation type//amelogenesis imperfecta, hypomaturation type//hypomaturation amelogenesis imperfecta	MMP20;WDR72;ODAPH;SLC24A4;KLK4;GPR68;AMELX	MMP20;WDR72;ODAPH;SLC24A4;KLK4;GPR68;AMELX	https://raresource.nih.gov/literature/disease/0008349	0008349		100033	C0399372	C536606	matrix metallopeptidase 20; WD repeat domain 72; odontogenesis associated phosphoprotein; solute carrier family 24 member 4; kallikrein related peptidase 4; G protein-coupled receptor 68; amelogenin X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 2"	24
Autosomal recessive Kenny-Caffey syndrome	kcs1//kenny-caffey syndrome type 1//kenny-caffey syndrome, autosomal recessive	TBCE	TBCE	https://raresource.nih.gov/literature/disease/0008367	0008367	244460	93324	C1855648	C537021	tubulin folding cofactor E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Kenny-Caffey syndrome"	7
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	cox deficiency, french canadian type//cox deficiency, french-canadian type//cytochrome c oxidase deficiency french-canadian type//cytochrome c oxidase deficiency, french canadian type//cytochrome c oxidase deficiency, french-canadian type//cytochrome oxidase deficiency saguenay-lac-saint-jean type//cytochrome oxidase deficiency, saguenay-lac-saint-jean type//leigh syndrome french-canadian type//leigh syndrome, french-canadian type//leigh syndrome, saguenay-lac-saint-jean type//mc4dn5//mitochondrial complex iv deficiency, nuclear type 5//mitochondrial complex iv deficiency, nuclear type 5, (french-canadian)//slsj-cox deficiency	LRPPRC	LRPPRC	https://raresource.nih.gov/literature/disease/0008370	0008370	220111	70472	C1857355	C537004	leucine rich pentatricopeptide repeat containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	5
Autosomal recessive polycystic kidney disease	ar polycystic kidney disease//ar-pkd//arpkd//arpkd - autosomal recessive polycystic kidney disease//autosomal recessive infantile polycystic kidney disease//autosomal recessive polycystic kidney//infantile polycystic kidney disease//ipkd - infantile polycystic kidney disease//polycystic kidney and hepatic disease 1//polycystic kidney disease, autosomal recessive//polycystic kidney disease, infantile type//polycystic kidney disease, infantile, type i	DZIP1L;PKHD1	DZIP1L;PKHD1	https://raresource.nih.gov/literature/disease/0008378	0008378		731	C0085548	D017044	DAZ interacting zinc finger protein 1 like; PKHD1 ciliary IPT domain containing fibrocystin/polyductin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive polycystic kidney disease"	949
Arterial calcification of infancy	generalised arterial calcification of infancy//generalized arterial calcification of infancy//idiopathic infantile arterial calcification//idiopathic obliterative arteriopathy//infantile arteriosclerosis//occlusive infantile arteriopathy	ABCC6;ENPP1	ABCC6;ENPP1	https://raresource.nih.gov/literature/disease/0008380	0008380		51608	C1859727	C537440	ATP binding cassette subfamily C member 6; ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arterial calcification of infancy"	208
Deficiency of hydroxymethylglutaryl-CoA lyase	3-hydroxy-3-methylglutaric aciduria//3-hydroxy-3-methylglutaryl-coa lyase deficiency//3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency//3-oh 3-methyl glutaric aciduria//defect in leucine metabolism//hmg-coa lyase deficiency//hmgcl deficiency//hmgcld//hydroxymethylglutaric aciduria//hydroxymethylglutaryl-coa lyase deficiency	HMGCL	HMGCL	https://raresource.nih.gov/literature/disease/0008387	0008387	246450	20	C0268601	C538324	3-hydroxy-3-methylglutaryl-CoA lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of hydroxymethylglutaryl-CoA lyase"	180
Ornithine carbamoyltransferase deficiency	deficiency of citrulline phosphorylase//deficiency of ornithine carbamoyltransferase//deficiency of ornithine transcarbamylase//oct (ornithine carbamoyltransferase) deficiency//oct deficiency//ornithine carbamoyltransferase deficiency disease//ornithine transcarbamoylase deficiency//ornithine transcarbamylase deficiency//ornithine transcarbamylase deficiency, hyperammonemia due to//otc (ornithine transcarbamylase) deficiency//otc deficiency//otc-gene related ornithine carbamoyltransferase deficiency//otcd	OTC	OTC	https://raresource.nih.gov/literature/disease/0008391	0008391	311250	664	C0268542	D020163	ornithine transcarbamylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ornithine carbamoyltransferase deficiency"	979
Hepatic methionine adenosyltransferase deficiency	brain demyelination due to methionine adenosyltransferase deficiency//deficiency of methionine adenosyltransferase//hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency//isolated persistent hypermethioninemia//mat deficiency//mat i/iii deficiency//methionine adenosyltransferase deficiency//methionine adenosyltransferase deficiency, autosomal recessive	MAT1A	MAT1A	https://raresource.nih.gov/literature/disease/0008397	0008397	250850	168598	C0268621		methionine adenosyltransferase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatic methionine adenosyltransferase deficiency"	46
Miller syndrome	acrofacial dysostosis, genee-wiedemann type//acrofacial dysostosis, genee-wiedmann type//genee-wiedemann acrofacial dysostosis//genee-wiedemann syndrome//mandibulfacial dysostosis with postaxial limb anomalies//mandibulofacial dysostosis with postaxial limb anomalies//poads//postaxial acrodysostosis//postaxial acrofacial dysostosis//postaxial acrofacial dysostosis syndrome	DHODH	DHODH	https://raresource.nih.gov/literature/disease/0008410	0008410	263750	246	C0265257	C537680	dihydroorotate dehydrogenase (quinone)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Miller syndrome"	65
Van der Woude syndrome	cleft lip/palate with mucous cysts of lower lip//lip-pit syndrome//lip-pit-cleft lip syndrome//vws	IRF6;GRHL3	IRF6;GRHL3	https://raresource.nih.gov/literature/disease/0008414	0008414		888	C0175697	C536528	interferon regulatory factor 6; grainyhead like transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van der Woude syndrome"	348
Isolated optic nerve hypoplasia	bilateral optic nerve hypoplasia//familial bilateral optic nerve hypoplasia//optic nerve hypoplasia//optic nerve hypoplasia, bilateral//optic nerve hypoplasia, familial bilateral	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0008419	0008419	165550	637061	C1833797		paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated optic nerve hypoplasia"	437
Peters plus syndrome	krause-kivlin syndrome//krause-van schooneveld-kivlin syndrome//peters anomaly with short limb dwarfism//peters anomaly-short limb dwarfism syndrome	B3GLCT	B3GLCT	https://raresource.nih.gov/literature/disease/0008422	0008422	261540	709	C0796012	C537617	beta 3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peters plus syndrome"	76
Iminoglycinuria	iminoglycinuria, digenic	SLC36A2	SLC36A2	https://raresource.nih.gov/literature/disease/0008424	0008424	242600	42062	C0268654	C536285	solute carrier family 36 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Iminoglycinuria"	34
Thyroid hypoplasia	hypoplasia of thyroid//hypoplastic thyroid//small thyroid gland	SLC26A4;TSHR;PAX8	SLC26A4;TSHR;PAX8	https://raresource.nih.gov/literature/disease/0008426	0008426		95720	C0151516		solute carrier family 26 member 4; thyroid stimulating hormone receptor; paired box 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid hypoplasia"	117
Bailey-Bloch congenital myopathy	cmyo13//congenital myopathy 13//congenital myopathy, cleft palate. malignant hyperthermia syndrome//congenital myopathy-cleft palate-malignant hyperthermia syndrome//myopathy, congenital, baily-bloch//native american myopathy//stac3 disorder	STAC3	STAC3	https://raresource.nih.gov/literature/disease/0008432	0008432	255995	168572	C1850625	C538343	SH3 and cysteine rich domain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bailey-Bloch congenital myopathy"	21
King Denborough syndrome	kds//koussef nichols syndrome//koussef-nichols syndrome	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0008433	0008433	619542	99741	C1840365	C536883;C537504	ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=King Denborough syndrome"	77
Persistent Mullerian duct syndrome	female genital ducts in otherwise normal male//hernia uteri inguinale//persistent muellerian duct syndrome//persistent mullerian derivatives//persistent mullerian duct syndrome, type i//persistent mullerian duct syndrome, type ii//persistent mullerian duct syndrome, types i and ii//persistent müllerian derivatives//persistent müllerian duct syndrome//persistent oviduct syndrome//pmds//pseudohermaphroditism, male internal	AMHR2;AMH	AMHR2;AMH	https://raresource.nih.gov/literature/disease/0008435	0008435	261550	2856	C1849930	C536665	anti-Mullerian hormone receptor type 2; anti-Mullerian hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Persistent Mullerian duct syndrome"	647
Frontotemporal dementia	dementia, frontotemporal, with or without parkinsonism//frontotemporal dementia with parkinsonism//frontotemporal dementia with parkinsonism-17//frontotemporal lobar degeneration//frontotemporal lobar degeneration with tau inclusions//frontotemporal lobe dementia//frontotemporal lobe dementia (fldem)//ftd//ftd1//ftld with tau inclusions//multiple system tauopathy with presenile dementia//pallidopontonigral degeneration//wilhelmsen-lynch disease//wilhemsen-lynch disease	MAPT;PSEN1	MAPT;PSEN1	https://raresource.nih.gov/literature/disease/0008436	0008436		282	C0338451	D057180	microtubule associated protein tau; presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia"	12198
Keutel syndrome	ktls//pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome//pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome	MGP	MGP	https://raresource.nih.gov/literature/disease/0008449	0008449	245150	85202	C1855607	C536167	matrix Gla protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keutel syndrome"	52
TNF receptor-associated periodic fever syndrome (TRAPS)	autosomal dominant familial periodic fever//familial autosomal dominant periodic fever//familial hibernian fever//fhf//fpf//hibernian fever, familial//tnf receptor 1-associated periodic fever syndrome//tnf receptor 1-associated periodic syndrome//tnf receptor-associated periodic fever syndrome//tnf receptor-associated periodic syndrome//traps//traps - tnf receptor-associated periodic fever syndrome//traps syndrome//tumor necrosis factor (tnf) receptor-associated periodic fever syndrome//tumor necrosis factor receptor 1 associated periodic syndrome//tumor necrosis factor receptor 1-associated periodic syndrome//tumor necrosis factor receptor-associated periodic fever syndrome//tumor necrosis factor receptor-associated periodic syndrome//tumour necrosis factor receptor 1 associated periodic syndrome//tumour necrosis factor receptor 1-associated periodic syndrome//tumour necrosis factor receptor-associated periodic syndrome	TNFRSF1A	TNFRSF1A	https://raresource.nih.gov/literature/disease/0008457	0008457	142680	32960	C1275126	C536657	TNF receptor superfamily member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TNF receptor-associated periodic fever syndrome (TRAPS)"	1343
Polyglandular autoimmune syndrome, type 1	aire autoimmune polyendocrinopathy//apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy//apeced syndrome//aps i//aps type 1//aps1//autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome//autoimmune polyendocrine syndrome type 1//autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia//autoimmune polyendocrinopathy caused by mutation in aire//autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia//autoimmune polyendocrinopathy syndrome type 1//autoimmune polyendocrinopathy syndrome, type i//autoimmune polyendocrinopathy type 1//autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy//autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy//autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome//autoimmune polyglandular syndrome i//autoimmune polyglandular syndrome type 1//candidiasis-endocrinopathy syndrome//ham syndrome//hypoadrenocorticism with hypoparathyroidism and superficial moniliasis//hypoadrenocorticism, hypoparathyroidism and superficial moniliasis//hypoparathyroidism, addison's disease and moniliasis//hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome//juvenile familial endocrinopathy//medac syndrome//multiple endocrine deficiency-addison disease-candidiasis syndrome//pga i//polyglandular deficiency associated with mucocutaneous candidiasis//type 1 polyendocrine autoimmunity syndrome//whitaker syndrom//whitaker syndrome	AIRE	AIRE	https://raresource.nih.gov/literature/disease/0008466	0008466	240300	3453	C0085859		autoimmune regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyglandular autoimmune syndrome, type 1"	744
Melanoma and neural system tumor syndrome	melanoma-astrocytoma syndrome	CDKN2A	CDKN2A	https://raresource.nih.gov/literature/disease/0008468	0008468	155755	252206	C1835042	C536149	cyclin dependent kinase inhibitor 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melanoma and neural system tumor syndrome"	7
Ocular albinism, type I	nettleship-falls syndrome//nettleship-falls type ocular albinism//oa1//oa1 - x-linked ocular albinism//ocular albinism type 1//ocular albinism, nettleship-falls type//ocular albinism, type i, nettleship-falls type//x linked ocular albinism//x-linked ocular albinism//x-linked ocular albinism, nettleship type//x-linked recessive ocular albinism//xloa	GPR143	GPR143	https://raresource.nih.gov/literature/disease/0008471	0008471	300500	54	C0342684	C537863	G protein-coupled receptor 143	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ocular albinism, type I"	178
Familial amyloid nephropathy with urticaria AND deafness	amyloid nephropathy with deafness and urticaria//cryopyrin-associated periodic syndrome 2//muckle-wells syndrome//muckle-wells type amyloidosis//mws//neutrophilic urticaria//uda syndrome//urticaria, deafness and amyloidosis//urticaria-deafness-amyloidosis syndrome	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0008472	0008472	191900	575	C0268390		NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial amyloid nephropathy with urticaria AND deafness"	521
Leber plus disease	lhon plus disease	MT-ND6;MT-ND4;MT-ND3	MT-ND6;MT-ND4;MT-ND3	https://raresource.nih.gov/literature/disease/0008476	0008476		99718	C4304725		mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber plus disease"	4
Autosomal recessive cutis laxa type 1	arcl1//autosomal recessive cutis laxa with severe systemic involvement//autosomal recessive cutis laxa, pulmonary emphysema type//cutis laxa, recessive, type i	LTBP1;EFEMP2;FBLN5	LTBP1;EFEMP2;FBLN5	https://raresource.nih.gov/literature/disease/0008480	0008480		90349	C0268351	C536225	latent transforming growth factor beta binding protein 1; EGF containing fibulin extracellular matrix protein 2; fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cutis laxa type 1"	2
Ehlers-Danlos syndrome, musculocontractural type	adducted thumb, clubfoot, progressive joint and skin laxity syndrome//adducted thumb-clubfoot syndrome//adducted thumbs, arthrogryposis syndrome, dundar type//adducted thumbs-arthrogryposis syndrome, dundar type//arthrogryposis, distal, with peculiar facies and hydronephrosis//atcs//chst14-related eds//chst14-related ehlers-danlos syndrome//d4st1-deficient eds//d4st1-deficient ehlers-danlos syndrome//distal arthrogryposis with peculiar facies and hydronephrosis//dundar syndrome//dündar syndrome//eds, arthrogryposic type//eds, kosho type//eds, musculocontractural type//edsmc//ehlers-danlos syndrome arthrogryposic type//ehlers-danlos syndrome kosho type//ehlers-danlos syndrome, arthrogryposic type//ehlers-danlos syndrome, kosho type//mceds//musculocontractural eds//musculocontractural ehlers-danlos syndrome	DSE;CHST14	DSE;CHST14	https://raresource.nih.gov/literature/disease/0008486	0008486		2953	C1866294	C000600608	dermatan sulfate epimerase; carbohydrate sulfotransferase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, musculocontractural type"	263
Familial papillary or follicular thyroid carcinoma	familial nonmedullary primary thyroid carcinoma//familial nonmedullary thyroid gland carcinoma//familial pure nonmedullary thyroid carcinoma//fnmtc//fnmtc - familial nonmedullary thyroid carcinoma	FOXE1;HABP2	FOXE1;HABP2	https://raresource.nih.gov/literature/disease/0008488	0008488		319487	C5191836		forkhead box E1; hyaluronan binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial papillary or follicular thyroid carcinoma"	131
MASS syndrome	mass phenotype//octd//overlap connective tissue disease	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0008489	0008489	604308		C1858556	C536030	fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MASS syndrome"	52
Usher syndrome type 2C	ush2c//usher syndrome type iic//usher syndrome, type 2b//usher syndrome, type 2c, autosomal recessive, digenic dominant//usher syndrome, type 2c, gpr98/pdzd7 digenic, autosomal recessive, digenic dominant//usher syndrome, type iic//usher syndrome, type iic, gpr98/pdzd7 digenic, autosomal recessive, digenic dominant	PDZD7;ADGRV1	PDZD7;ADGRV1	https://raresource.nih.gov/literature/disease/0008497	0008497	605472		C2931213	C536492	PDZ domain containing 7; adhesion G protein-coupled receptor V1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 2C"	6
White sponge nevus	familial white folded mucosal dysplasia//hereditary leukokeratosis of mucosa//hereditary mucosal leukokeratosis//hereditary oral keratosis//hereditary white sponge nevus//white sponge nevus of cannon//white sponge nevus of mucosa	KRT13;KRT4	KRT13;KRT4	https://raresource.nih.gov/literature/disease/0008501	0008501		171723	C1721005	D053529	keratin 13; keratin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=White sponge nevus"	116
Squamous cell carcinoma of the head and neck	craniocervical region squamous cell carcinoma//head and neck squamous cell carcinoma//hnscc//scchn//squamous cell carcinoma of head and neck//squamous cell carcinoma, head and neck, somatic//squamous cell carcinomas of head and neck	TNFRSF10B;ING1	TNFRSF10B;ING1	https://raresource.nih.gov/literature/disease/0008503	0008503	275355		C1168401	C535575;D000077195	TNF receptor superfamily member 10b; inhibitor of growth family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Squamous cell carcinoma of the head and neck"	21355
X-linked Ehlers-Danlos syndrome	eds 5//eds v//ehlers-danlos syndrome type 5//ehlers-danlos syndrome type v//ehlers-danlos syndrome, type 5//ehlers-danlos syndrome, x-linked//x-linked eds	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0008505	0008505		75497	C0268341	C536197	filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Ehlers-Danlos syndrome"	7
Ehlers-Danlos syndrome due to tenascin-X deficiency	classical-like eds type 1//classical-like ehlers-danlos syndrome type 1//cleds type 1//eds due to tnx deficiency//eds, classic-like type//edscll1//ehlers-danlos syndrome classic-like type//ehlers-danlos syndrome, classic-like//ehlers-danlos syndrome, classic-like type//ehlers-danlos syndrome, classic-like, 1//tnx deficiency	TNXB	TNXB	https://raresource.nih.gov/literature/disease/0008507	0008507	606408	230839	C1848029	C536193	tenascin XB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome due to tenascin-X deficiency"	16
Diencephalic-mesencephalic junction dysplasia syndrome 1	dmjds1//microcephaly with spastic quadriplegia	PCDH12	PCDH12	https://raresource.nih.gov/literature/disease/0008510	0008510	251280		C4538630	C537546	protocadherin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diencephalic-mesencephalic junction dysplasia syndrome 1"	1
Keratoderma with scleroatrophy of the extremities	hrz//huriez syndrome//keratoderma with scleroatrophy of extremities//palmoplantar hyperkeratosis sclerodactyly syndrome//palmoplantar hyperkeratosis-sclerodactyly syndrome//palmoplantar keratoderma sclerodactyly syndrome//palmoplantar keratoderma-sclerodactyly syndrome//scleroatrophic and keratotic dermatosis of limbs//scleroatrophic syndrome//sclerotylosis	SMARCAD1	SMARCAD1	https://raresource.nih.gov/literature/disease/0008517	0008517	181600	384	C0406767	C537526	SNF2 related chromatin remodeling ATPase with DExD box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratoderma with scleroatrophy of the extremities"	2000
Pettigrew syndrome	intellectual disability, x-linked syndromic 5//mental retardation, x-linked syndromic 5//mrx59//mrxs21//pettigrew syndrome, x-linked recessive//pgs//syndromic x-linked intellectual disability 21//syndromic x-linked intellectual disability 5//syndromic x-linked intellectual disability fried type//syndromic x-linked intellectual disability type 5//syndromic x-linked mental retardation 21//syndromic x-linked mental retardation fried type//x-linked dandy-walker malformation with intellectual disability, basal ganglia disease and seizure syndrome//x-linked intellectual disability 59//x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome//x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome//x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome//x-linked mental retardation 59//x-linked metal retardation with dandy-walker malformation, basal ganglia disease, and seizures	AP1S2	AP1S2	https://raresource.nih.gov/literature/disease/0008520	0008520	304340	1568	C0796254		adaptor related protein complex 1 subunit sigma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pettigrew syndrome"	270
Infantile-onset X-linked spinal muscular atrophy	amc, distal, x-linked//arthrogryposis, x-linked, type i//smax2//spinal muscular atrophy with arthrogryposis//spinal muscular atrophy, x-linked 2//spinal muscular atrophy, x-linked 2, infantile, x-linked recessive//spinal muscular atrophy, x-linked infantile//spinal muscular atrophy, x-linked lethal infantile//spinal muscular atrophy, x-linked type 2//x-linked distal arthrogryposis multiplex congenita//x-linked spinal muscular atrophy type 2	UBA1	UBA1	https://raresource.nih.gov/literature/disease/0008521	0008521	301830	1145	C1844934	C535380	ubiquitin like modifier activating enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset X-linked spinal muscular atrophy"	5
3MC syndrome 3	3mc syndrome caused by mutation in colec10//3mc syndrome type 3//colec10 3mc syndrome//malpuech facial clefting syndrome	COLEC10	COLEC10	https://raresource.nih.gov/literature/disease/0008531	0008531	248340		C0796032	C535704	collectin subfamily member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3MC syndrome 3"	2
Attenuated familial adenomatous polyposis	aapc//afap//attenuated adenomatous polyposis coli//attenuated familial polyposis coli//attenuated fap//hereditary flat adenoma syndrome//hfas	APC	APC	https://raresource.nih.gov/literature/disease/0008532	0008532		220460	C2674616	C538265	APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Attenuated familial adenomatous polyposis"	238
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	autonomic control, congenital failure of//cchs//cchs1//central congenital hypoventilation syndrome//central hypoventilation syndrome, congenital, 1//central hypoventilation syndrome, congenital, 1, with or without hirschsprung//congenital central alveolar hypoventilation syndrome//congenital central hypoventilation//congenital central hypoventilation syndrome//congenital ondine curse//ondine curse//ondine curse, congenital//ondine syndrome	PHOX2B	PHOX2B	https://raresource.nih.gov/literature/disease/0008535	0008535	209880	661	C5562075		paired like homeobox 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	724
Urocanate hydratase deficiency	encephalopathy due to urocanase deficiency//high urine urocanic acid levels//urocanase deficiency//urocanic aciduria//urocanic aciduria (disease)//urocd	UROC1	UROC1	https://raresource.nih.gov/literature/disease/0008539	0008539	276880	210128	C0268514	C536479	urocanate hydratase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Urocanate hydratase deficiency"	5
Familial hypokalemia-hypomagnesemia	gitelman syndrome//gitelman's syndrome//gtlmns//hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria//potassium and magnesium depletion//primary renal tubular hypokalemic hypomagnesemia with hypocalciuria	SLC12A3	SLC12A3	https://raresource.nih.gov/literature/disease/0008547	0008547	263800	358	C0268450	D053579	solute carrier family 12 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypokalemia-hypomagnesemia"	859
Charcot-Marie-Tooth disease type 2B1	ar-cmt2b1//autosomal recessive axonal charcot-marie-tooth disease type 2b1//autosomal recessive axonal cmt4c1//autosomal recessive charcot-marie-tooth disease type 2b1//charcot-marie-tooth disease neuronal type 2b1//charcot-marie-tooth disease type 2 caused by mutation in lmna//charcot-marie-tooth disease, axonal, type 2b1//charcot-marie-tooth disease, neuronal, type 2b1//charcot-marie-tooth neuropathy type 2b1//cmt2b1//lmna charcot-marie-tooth disease type 2	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0008548	0008548	605588	98856	C1854154	C537990	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2B1"	3
Oromandibular-limb hypogenesis spectrum	absence or underdevelopment of the 6th and 7th cranial nerves//congenital facial diplegia//congenital facial diplegia syndrome//congenital oculofacial paralysis//facial-limb disruptive spectrum//hypoglossia-hypodactyly syndrome//mbs//mobius syndrome//moebius congenital oculofacial paralysis//moebius sequence//moebius syndrome//moebius syndrome, isolated cases//möbius syndrome	PLXND1;REV3L	PLXND1;REV3L	https://raresource.nih.gov/literature/disease/0008549	0008549	157900	570	C0221060	D020331	plexin D1; REV3 like, DNA directed polymerase zeta catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oromandibular-limb hypogenesis spectrum"	1101
Dermatopathia pigmentosa reticularis	dpr//dpr - dermatopathia pigmentosa reticularis	KRT14	KRT14	https://raresource.nih.gov/literature/disease/0008550	0008550	125595	86920	C0406778	C535374	keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dermatopathia pigmentosa reticularis"	50
Infantile convulsions and choreoathetosis	icca//icca syndrome//infantile convulsion and choreoathetosis syndrome//paroxysmal kinesigenic dyskinesia and infantile convulsion//paroxysmal kinesigenic dyskinesia and infantile convulsions//paroxysmal kinesigenic dyskinesia with infantile convulsions//pkd/ic	PRRT2	PRRT2	https://raresource.nih.gov/literature/disease/0008553	0008553	602066	31709	C1865926	C535522	proline rich transmembrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile convulsions and choreoathetosis"	986
Mesangiocapillary glomerulonephritis, type II	dense deposit disease//dense deposit disease / membranoproliferative glomerulonephritis type ii//mcgn (mesangiocapillary glomerulonephritis) type ii//membranoproliferative glomerulonephritis type 2//mesangiocapillary glomerulonephritis type 2//mpgn 2//mpgnii - membranoproliferative glomerulonephritis type ii	CFH;CFHR1	CFH;CFHR1	https://raresource.nih.gov/literature/disease/0008555	0008555		93571	C0268743		complement factor H; complement factor H related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mesangiocapillary glomerulonephritis, type II"	337
Seckel syndrome	bird-headed dwarf//bird-headed dwarf of seckel//bird-headed dwarfism//harper's syndrome//nanocephalic dwarf//nanocephalic dwarfism//sckl//seckel-type dwarfism//virchow-seckel dwarfism	TRAIP;ATRIP;CPAP;ATR;NUP85;PLK4;RBBP8;DNA2;CEP152;CENPE	TRAIP;ATRIP;CPAP;ATR;NUP85;PLK4;RBBP8;DNA2;CEP152;CENPE	https://raresource.nih.gov/literature/disease/0008562	0008562		808	C0265202		TRAF interacting protein; ATR interacting protein; centrosome assembly and centriole elongation protein; ATR checkpoint kinase; nucleoporin 85; polo like kinase 4; RB binding protein 8, endonuclease; DNA replication helicase/nuclease 2; centrosomal protein 152; centromere protein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome"	257
Autosomal recessive limb-girdle muscular dystrophy type 2F	autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd//delta-sarcoglycan-related lgmd r6//delta-sarcoglycan-related limb-girdle muscular dystrophy r6//lgmd due to delta-sarcoglycan deficiency//lgmd type 2f//lgmd2f//lgmdr6//limb girdle muscular dystrophy due to delta-sarcoglycan deficiency//limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2f//muscular dystrophy limb-girdle with delta-sarcoglyan deficiency//muscular dystrophy, limb-girdle, autosomal recessive 6//sgcd autosomal recessive limb-girdle muscular dystrophy	SGCD	SGCD	https://raresource.nih.gov/literature/disease/0008573	0008573	601287	219	C1832525	C535896	sarcoglycan delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2F"	18
Autosomal recessive limb-girdle muscular dystrophy type 2B	autosomal recessive limb-girdle muscular dystrophy caused by mutation in dysf//dysf autosomal recessive limb-girdle muscular dystrophy//dysferlin-related lgmd r2//dysferlin-related limb-girdle muscular dystrophy r2//lgmd due to dysferlin deficiency//lgmd type 2b//lgmd2b//lgmd3//lgmdr2//limb girdle muscular dystrophy due to dysferlin deficiency//limb-girdle muscular dystrophy due to dysferlin deficiency//limb-girdle muscular dystrophy type 2b//limb-girdle muscular dystrophy type 3//limb-girdle muscular dystrophy, type 2b//muscular dystrophy, limb-girdle, autosomal recessive 2//muscular dystrophy, limb-girdle, type 3	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0008574	0008574	253601	268	C1850889	C535899	dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2B"	213
Hypertrichotic osteochondrodysplasia Cantu type	cantu syndrome//cantu's syndrome//cantú syndrome//congenital hypertrichosis-acromegaloid facial features spectrum//congenital hypertrichosis-coarse facial features spectrum//hypertrichotic osteochondrodysplasia//hypertrichotic osteochondrodysplasia (cantu syndrome)	ABCC9	ABCC9	https://raresource.nih.gov/literature/disease/0008585	0008585	239850	1517	C0795905	C535572	ATP binding cassette subfamily C member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrichotic osteochondrodysplasia Cantu type"	112
Heterotaxy, visceral, 1, X-linked	congenital heart defects, nonsyndromic, 1, x-linked, x-linked recessive//dextrocardia with other cardiac malformations//heterotaxy, visceral, 1, x-linked, x-linked recessive//htx1//laterality, x-linked//situs inversus, complex cardiac defects, and splenic defects, x-linked//visceral heterotaxia//visceral heterotaxy caused by mutation in zic3//zic3 visceral heterotaxy//zic3-related visceral heterotaxy	ZIC3	ZIC3	https://raresource.nih.gov/literature/disease/0008591	0008591	306955		C1844020	C538116	Zic family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 1, X-linked"	21
Autosomal recessive distal spinal muscular atrophy 1	autosomal recessive distal spinal muscular atrophy type 1//autosomal recessive spinal muscular atrophy with respiratory distress//dhmn6//diaphragmatic spinal muscular atrophy//distal hereditary motor neuronopathy type vi//distal hereditary motor neuropathy type 6//distal spinal muscular atrophy type 1//distal-hmn type 6//dsma1//hmn vi//ighmbp2 spinal muscular atrophy//neuronopathy, distal hereditary motor, harding type vi//neuronopathy, severe infantile axonal, with respiratory failure//neuropathy, distal hereditary motor, autosomal recessive 1//severe infantile axonal neuropathy with respiratory failure//severe infantile axonal neuropathy with respiratory failure type 1//sianrf//smard1//spinal muscular atrophy caused by mutation in ighmbp2//spinal muscular atrophy with respiratory distress//spinal muscular atrophy with respiratory distress 1//spinal muscular atrophy with respiratory distress type 1//spinal muscular atrophy, diaphragmatic//spinal muscular atrophy, distal, autosomal recessive, type 1	IGHMBP2	IGHMBP2	https://raresource.nih.gov/literature/disease/0008592	0008592	604320	98920	C1858517	C536880	immunoglobulin mu DNA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive distal spinal muscular atrophy 1"	103
Maple syrup urine disease type 1A	maple syrup urine disease, type ia//msud type 1a//msud1a	BCKDHA	BCKDHA	https://raresource.nih.gov/literature/disease/0008594	0008594	248600		C1855369		branched chain keto acid dehydrogenase E1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maple syrup urine disease type 1A"	None
Familial isolated deficiency of vitamin E	ataxia with isolated vitamin e deficiency//ataxia with vitamin e deficiency//aved//familial isolated deficiency of vitamin type e//familial isolated vitamin e deficiency//friedreich ataxia phenotype with selective vitamin e deficiency//friedreich-like ataxia//isolated vitamin e deficiency	TTPA	TTPA	https://raresource.nih.gov/literature/disease/0008595	0008595	277460	96	C1848533	C535393	alpha tocopherol transfer protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated deficiency of vitamin E"	109
Maple syrup urine disease type 2	maple syrup urine disease, type ii//msud2	DBT	DBT	https://raresource.nih.gov/literature/disease/0008596	0008596	620699		C1855371		dihydrolipoamide branched chain transacylase E2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maple syrup urine disease type 2"	1
Maple syrup urine disease type 1B	msud due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex//msud type 3 (formerly)//msud type ib//msud1b	BCKDHB	BCKDHB	https://raresource.nih.gov/literature/disease/0008597	0008597	620698		C2930990		branched chain keto acid dehydrogenase E1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maple syrup urine disease type 1B"	1
Gastrointestinal stromal tumor	gant//gastrointestinal stroma tumor//gastrointestinal stroma tumour//gastrointestinal stromal neoplasm//gastrointestinal stromal sarcoma//gastrointestinal stromal tumor (gist)//gastrointestinal stromal tumor, familial, isolated cases//gastrointestinal stromal tumor, isolated cases//gastrointestinal stromal tumor, somatic//gastrointestinal stromal tumors//gastrointestinal stromal tumour//gastrointestinal stromal tumour (gist)//gastrointestinal stromal tumours//gi stroma tumor//gi stroma tumour//gist//gist - gastrointestinal stromal tumor//stromal tumor of gastrointestinal tract//stromal tumour of gastrointestinal tract	SDHB;SDHC;KIT	SDHB;SDHC;KIT	https://raresource.nih.gov/literature/disease/0008598	0008598	606764	44890	C0238198	D046152	succinate dehydrogenase complex iron sulfur subunit B; succinate dehydrogenase complex subunit C; KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gastrointestinal stromal tumor"	11899
Amish lethal microcephaly	amish microcephaly//mcpha//microcephaly, amish type//thiamine metabolism dysfunction syndrome 3 (microcephaly type)	SLC25A19	SLC25A19	https://raresource.nih.gov/literature/disease/0008606	0008606	607196	99742	C1846648	C538247	solute carrier family 25 member 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amish lethal microcephaly"	11
Hb SS disease	drepanocythemia//drepanocytosis//haemoglobin s disease without crisis//haemoglobin sc disease//hb s disease//hb sc disease//hb-s/hb-c disease//hb-ss disease without crisis//hbs disease//hemoglobin s disease//hemoglobin s disease without crisis//hemoglobin s-s disease//hemoglobin sc disease//hemoglobin ss//hereditary hemoglobinopathy disorder homozygous for hemoglobin s//scd//sickle cell anemia//sickle cell disease//sickle cell syndrome//sickle cell-hemoglobin ss disease//sickle-cell/hb-c disease without crisis//sickling disorder due to haemoglobin s//sickling disorder due to hemoglobin s	HBB	HBB	https://raresource.nih.gov/literature/disease/0008614	0008614	603903	232	C0002895	D000755	hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hb SS disease"	33619
Primary myelofibrosis	agnogenic myeloid metaplasia//aleukemic myelosis//amm//bone marrow fibrosis//chronic idiopathic myelofibrosis//cimf//idiopathic bone marrow fibrosis//idiopathic myelofibrosis//megakaryocytic myelosclerosis//myelofibrosis as a result of myeloproliferative disease//myelofibrosis with myeloid metaplasia, somatic//myelofibrosis, somatic//myelosclerosis//myelosclerosis with myeloid metaplasia//osteomyelofibrosis//suspected idiopathic myelofibrosis	SH2B3;JAK2;MPL;CALR	SH2B3;JAK2;MPL;CALR	https://raresource.nih.gov/literature/disease/0008618	0008618		824	C0001815	D055728	SH2B adaptor protein 3; Janus kinase 2; MPL proto-oncogene, thrombopoietin receptor; calreticulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary myelofibrosis"	4111
Uveal melanoma	intraocular melanoma//melanoma (disease) of uvea//melanoma of the uvea//melanoma of uvea//melanoma, uveal, malignant//uvea melanoma//uvea melanoma (disease)	CYSLTR2;GNA11;BAP1;GNAQ	CYSLTR2;GNA11;BAP1;GNAQ	https://raresource.nih.gov/literature/disease/0008621	0008621	155720	39044	C0220633	C536494;D000098943	cysteinyl leukotriene receptor 2; G protein subunit alpha 11; BRCA1 associated deubiquitinase 1; G protein subunit alpha q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uveal melanoma"	188
Reticular dysgenesis	ak2 deficiency//aleukocytosis//congenital aleukia//congenital aleukocytosis//de vaal disease//devaal disease//generalised haematopoietic hypoplasia//generalized hematopoietic hypoplasia//hematopoietic hypoplasia, generalized//reticular dysgenesia//scid - severe combined immunodeficiency, neutropenia and thrombocytopenia//scid with leukopenia//severe combined immunodeficiency with leukopenia//severe combined immunodeficiency, neutropenia and thrombocytopenia	AK2	AK2	https://raresource.nih.gov/literature/disease/0008625	0008625	267500	33355	C0272167	C538361	adenylate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reticular dysgenesis"	160
Alveolar capillary dysplasia with pulmonary venous misalignment	acdmpv//alveolar capillary dysplasia//alveolar capillary dysplasia with misalignment of pulmonary veins//alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies//alveolar capillary dysplasia with misalignment of pulmonary vessels//congenital alveolar capillary dysplasia//congenital alveolar capillary dysplasia with misalignment of pulmonary veins//fetal circulation//foetal circulation	FOXF1	FOXF1	https://raresource.nih.gov/literature/disease/0008644	0008644	265380	210122	C2960310	C536590	forkhead box F1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alveolar capillary dysplasia with pulmonary venous misalignment"	274
Crigler-Najjar syndrome, type II	arias syndrome//bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2//bilirubin-ugt deficiency type 2//crigler najjar syndrome, type 2//crigler-najjar syndrome type 2//crigler-najjar type 2//hereditary unconjugated hyperbilirubinemia type 2//hyperbilirubinemia, crigler-najjar type ii//mutation in the udp-glucuronosyl-transferase gene//ugt deficiency type 2	UGT1A1	UGT1A1	https://raresource.nih.gov/literature/disease/0008683	0008683	606785	79235	C2931132	C536213	UDP glucuronosyltransferase family 1 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crigler-Najjar syndrome, type II"	96
Autoimmune lymphoproliferative syndrome	alps//alps (autoimmune lymphoproliferative syndrome)//canale-smith syndrome//fas deficiency	FAS;CASP10;FASLG	FAS;CASP10;FASLG	https://raresource.nih.gov/literature/disease/0008686	0008686		3261	CN301239	D056735	Fas cell surface death receptor; caspase 10; Fas ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome"	681
Osteogenesis imperfecta type I	adair-dighton syndrome//classic non-deforming osteogenesis imperfecta with blue sclerae//col1a1-related osteogenesis imperfecta//lobstein's disease//mild osteogenesis imperfecta//non-deforming osteogenesis imperfecta//oi type 1//oi, type i//oi1//osteogenesis imperfecta tarda//osteogenesis imperfecta type 1//osteogenesis imperfecta with blue sclerae//van de hoeve syndrome//van der hoeve syndrome	COL1A1	COL1A1	https://raresource.nih.gov/literature/disease/0008694	0008694	166200	216796	C0023931		collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type I"	1804
Osteogenesis imperfecta type III	oi type 3//oi type iii//oi3//osteogenesis imperfecta type 3//osteogenesis imperfecta, progressively deforming with normal sclerae//progressive deforming osteogenesis imperfecta//progressively deforming osteogenesis imperfecta//progressively deforming osteogenesis imperfecta with normal sclera//severe osteogenesis imperfecta	COL1A2;COL1A1	COL1A2;COL1A1	https://raresource.nih.gov/literature/disease/0008695	0008695	259420	216812	C0268362	C536044	collagen type I alpha 2 chain; collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type III"	138
Osteogenesis imperfecta with normal sclerae, dominant form	common variable osteogenesis imperfecta with normal sclerae//oi type 4//oi4//osteogenesis imperfecta type 4//osteogenesis imperfecta type iv//osteogenesis imperfecta with normal sclera//osteogenesis imperfecta with normal sclerae//osteogenesis imperfecta, type iv//osteogenesis imperfecta, type iv, with dentinogenesis imperfecta	COL1A1;COL1A2	COL1A1;COL1A2	https://raresource.nih.gov/literature/disease/0008696	0008696	166220	216820	C0268363	C536045	collagen type I alpha 1 chain; collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta with normal sclerae, dominant form"	39
Gnathodiaphyseal dysplasia	gdd//gnathodiaphyseal dysplasia syndrome//gnathodiaphyseal sclerosis//osteogenesis imperfecta with unusual skeletal lesions	ANO5	ANO5	https://raresource.nih.gov/literature/disease/0008698	0008698	166260	53697	C1833736	C536039	anoctamin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gnathodiaphyseal dysplasia"	395
Osteogenesis imperfecta type 5	ifitm5 osteogenesis imperfecta//oi type 5//oi5//osteogenesis imperfecta caused by mutation in ifitm5//osteogenesis imperfecta type v//osteogenesis imperfecta, type v//type v oi	IFITM5	IFITM5	https://raresource.nih.gov/literature/disease/0008699	0008699	610967	216828	C2931093	C567042	interferon induced transmembrane protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 5"	59
Osteogenesis imperfecta type 6	oi6//osteogenesis imperfecta caused by mutation in serpinf1//osteogenesis imperfecta type vi//osteogenesis imperfecta, type vi//serpinf1 osteogenesis imperfecta//serpinf1-related osteogenesis imperfecta	SERPINF1	SERPINF1	https://raresource.nih.gov/literature/disease/0008700	0008700	613982		C3279564	C536047	serpin family F member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 6"	31
Osteogenesis imperfecta type 7	crtap osteogenesis imperfecta//crtap-related osteogenesis imperfecta//oi type 2b//oi type 7//oi type iib//oi type vii//oi7//osteogenesis imperfecta caused by mutation in crtap//osteogenesis imperfecta type 2b//osteogenesis imperfecta type vii//osteogenesis imperfecta, perinatal lethal autosomal recessive//osteogenesis imperfecta, type iib	CRTAP	CRTAP	https://raresource.nih.gov/literature/disease/0008701	0008701	610682		C1853162		cartilage associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 7"	150
Tibial hemimelia	absence of tibia//agenesis of tibia//congenital absence of tibia//congenital aplasia and dysplasia of the tibia with intact fibula//congenital longitudinal deficiency of the tibia//tibial longitudinal meromelia	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0008707	0008707	275220	93322	C0265633	C535563	GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tibial hemimelia"	115
Achondrogenesis type II	acg2//achondrogenesis type 2//achondrogenesis, langer-saldino type//achondrogenesis, type ii or hypochondrogenesis//chondrogenesis imperfecta//langer-saldino achondrogenesis//langer-saldino dysplasia	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0008713	0008713	200610	93296	C0220685	C536017	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achondrogenesis type II"	57
Odontochondrodysplasia 1	chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome//odcd	TRIP11	TRIP11	https://raresource.nih.gov/literature/disease/0008717	0008717	184260	166272	C5542277		thyroid hormone receptor interactor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odontochondrodysplasia 1"	9
Axial spondylometaphyseal dysplasia	axial smd	CFAP410	CFAP410	https://raresource.nih.gov/literature/disease/0008720	0008720	602271	168549	C1865695	C535795	cilia and flagella associated protein 410	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Axial spondylometaphyseal dysplasia"	10
Episodic kinesigenic dyskinesia	ekd//familial paroxysmal kinesigenic dyskinesia//familial pkd//paroxysmal kinesigenic choreathetosis//paroxysmal kinesigenic choreoathetosis//paroxysmal kinesigenic dyskinesia	KCNA1;PRRT2;KCNJ10	KCNA1;PRRT2;KCNJ10	https://raresource.nih.gov/literature/disease/0008721	0008721		98809	C1868682		potassium voltage-gated channel subfamily A member 1; proline rich transmembrane protein 2; potassium inwardly rectifying channel subfamily J member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic kinesigenic dyskinesia"	498
Paroxysmal nonkinesigenic dyskinesia	familial paroxysmal choreoathetosis//mount-reback syndrome//paroxystic non-kinesigenic choreoathetosis	PNKD;PRRT2	PNKD;PRRT2	https://raresource.nih.gov/literature/disease/0008722	0008722		98810	C1869117		PNKD metallo-beta-lactamase domain containing; proline rich transmembrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal nonkinesigenic dyskinesia"	60
Myelodysplastic syndrome associated with isolated del(5q)	5q minus syndrome//5q- syndrome//5q- syndrome, refractory macrocytic anaemia due to 5q deletion//5q- syndrome, refractory macrocytic anemia due to 5q deletion//chromosome 5q deletion syndrome//macrocytic anemia, refractory, due to 5q deletion, somatic//myelodysplastic syndrome associated with isolated del (5q) chromosome abnormality//myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality//myelodysplastic syndrome with 5q deletion//myelodysplastic syndrome with isolated del(5q)	RPS14	RPS14	https://raresource.nih.gov/literature/disease/0008723	0008723	153550	86841	C0740302	C535323	ribosomal protein S14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myelodysplastic syndrome associated with isolated del(5q)"	291
Hereditary factor IX deficiency disease	christmas disease//congenital f9 deficiency//congenital factor ix deficiency//congenital factor ix disorder//deficiency, functional factor ix//f9 deficiency//factor ix deficiency//haemophilia b, x-linked recessive//haemophilia type b//hemb//hemophilia b//hemophilia b, x-linked recessive//hemophilia type b//hereditary factor ix deficiency//plasma thromboplastin component deficiency//ptc deficiency disease//sex-linked factor ix deficiency disease	F9	F9	https://raresource.nih.gov/literature/disease/0008732	0008732	306900	98879	C0008533	D002836	coagulation factor IX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary factor IX deficiency disease"	2357
Meckel syndrome, type 2	meckel syndrome caused by mutation in tmem216//meckel-gruber syndrome, type 2//mks2//mks2-related meckel syndrome//tmem216 meckel syndrome//tmem216-related meckel syndrome	TMEM216	TMEM216	https://raresource.nih.gov/literature/disease/0008743	0008743	603194		C1864148	C536131	transmembrane protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 2"	1
Meckel syndrome, type 3	meckel syndrome caused by mutation in tmem67//meckel-gruber syndrome, type 3//mks3//tmem67 meckel syndrome//tmem67-related meckel syndrome	TMEM67	TMEM67	https://raresource.nih.gov/literature/disease/0008744	0008744	607361		C1846357	C536132	transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 3"	8
Greenberg dysplasia	chondrodystrophy, hydropic and prenatally lethal type//grbgd//hem dysplasia//hem skeletal dysplasia//hydrops-ectopic calcification-motheaten syndrome//moth-eaten skeletal dysplasia//skeletal dysplasia, greenberg type	LBR	LBR	https://raresource.nih.gov/literature/disease/0008754	0008754	215140	1426	C2931048	C535858	lamin B receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Greenberg dysplasia"	465
Arts syndrome	arts//arts syndrome and phosphoribosylpyrophosphate synthetase superactivity//arts syndrome, x-linked recessive//fatal x-linked ataxia with deafness and loss of vision//lethal ataxia with deafness and optic atrophy//lethal ataxia with hearing loss and optic atrophy//lethal ataxia-deafness-optic atrophy//mental retardation, x-linked, syndromic 18//mental retardation, x-linked, syndromic, arts type//mrxs18//mrxsarts//syndromic x-linked intellectual disability 18//syndromic x-linked intellectual disability arts type//syndromic x-linked mental retardation 18//syndromic x-linked mental retardation arts type	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0008756	0008756	301835	1187	C0796028	C535388	phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arts syndrome"	50
Pleuropulmonary blastoma	childhood pulmonary blastoma//paediatric pulmonary blastoma//pediatric pulmonary blastoma//pleuropulmonary blastoma (morphologic abnormality)//ppb//pulmonary blastoma of childhood	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0008757	0008757		64742	C1266144	C537516	dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pleuropulmonary blastoma"	600
Primary Fanconi syndrome	congenital fanconi syndrome//de toni-fanconi-debre syndrome//detoni-debré-fanconi syndrome//primary fanconi renal syndrome//primary fanconi renotubular syndrome//primary toni-debre-fanconi syndrome//renal fanconi syndrome//renal tubular fanconi syndrome	EHHADH;GATM;SLC34A1;NDUFAF6	EHHADH;GATM;SLC34A1;NDUFAF6	https://raresource.nih.gov/literature/disease/0009118	0009118		3337	C1857395		enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase; glycine amidinotransferase; solute carrier family 34 member 1; NADH:ubiquinone oxidoreductase complex assembly factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary Fanconi syndrome"	236
Treacher Collins syndrome	franceschetti klein syndrome//franceschetti syndrome//franceschetti-klein syndrome//mandibulofacial dysostosis without limb anomalies//treacher collins-franceschetti syndrome	POLR1D;TCOF1;POLR1B;POLR1C	POLR1D;TCOF1;POLR1B;POLR1C	https://raresource.nih.gov/literature/disease/0009124	0009124		861	C0242387	D008342	RNA polymerase I and III subunit D; treacle ribosome biogenesis factor 1; RNA polymerase I subunit B; RNA polymerase I and III subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher Collins syndrome"	854
Treacher Collins syndrome 3	polr1c treacher-collins syndrome//polr1c-related treacher collins syndrome//tcs3//treacher collins syndrome type 3//treacher-collins syndrome caused by mutation in polr1c	POLR1C	POLR1C	https://raresource.nih.gov/literature/disease/0009125	0009125	248390		C1855433	C535707	RNA polymerase I and III subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher Collins syndrome 3"	2
Agnathia-otocephaly complex	agnathia-holoprosencephaly-situs inversus syndrome//dysgnathia complex agnathia-holoprosencephaly//holoprosencephaly-agnathia//otocephalic syndrome//otocephalus//otocephaly	PRRX1	PRRX1	https://raresource.nih.gov/literature/disease/0009126	0009126	202650	990	C0265242		paired related homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agnathia-otocephaly complex"	78
Autosomal dominant pseudohypoaldosteronism type 1	autosomal dominant pha 1//autosomal dominant pha1//pha i, autosomal dominant//pha1a//pseudohypoaldosteronism type 1, dominant//pseudohypoaldosteronism type i, autosomal dominant//pseudohypoaldosteronism, type i, autosomal dominant//pseudohypoaldosteronism, type i, dominant//renal pha1//renal pseudohypoaldosteronism type 1	NR3C2	NR3C2	https://raresource.nih.gov/literature/disease/0009145	0009145	177735	171871	C1449842		nuclear receptor subfamily 3 group C member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant pseudohypoaldosteronism type 1"	29
Cardio-facio-cutaneous syndrome	cardio-facial-cutaneous syndrome//cardiofaciocutaneous (cfc) syndrome//cfc//cfc syndrome	BRAF;KRAS;MAP2K1;MAP2K2	BRAF;KRAS;MAP2K1;MAP2K2	https://raresource.nih.gov/literature/disease/0009146	0009146		1340	C1275081	C535579	B-Raf proto-oncogene, serine/threonine kinase; KRAS proto-oncogene, GTPase; mitogen-activated protein kinase kinase 1; mitogen-activated protein kinase kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardio-facio-cutaneous syndrome"	345
Pelger-Huët anomaly	pelger huet anomaly//pelger-huet anomaly//pha	LBR	LBR	https://raresource.nih.gov/literature/disease/0009148	0009148	169400		C0030779	D010381	lamin B receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelger-Huët anomaly"	563
Retinitis pigmentosa 1	retinitis pigmentosa caused by mutation in rp1//retinitis pigmentosa type 1//rp1//rp1 retinitis pigmentosa	RP1	RP1	https://raresource.nih.gov/literature/disease/0009149	0009149	180100		C0220701	C538365	RP1 axonemal microtubule associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 1"	211
3-methylcrotonyl-CoA carboxylase 2 deficiency	3 alpha methylcrotonyl-coa carboxylase 2 deficiency//3 alpha methylcrotonylglycinuria 2//3-methylcrotonyl-coa carboxylase deficiency caused by mutation in mccc2//mcc 2 deficiency//mccc2 3-methylcrotonyl-coa carboxylase deficiency//mccc2-related 3-methylcrotonyl-coa carboxylase deficiency//methylcrotonylglycinuria type 2//methylcrotonylglycinuria, type ii	MCCC2	MCCC2	https://raresource.nih.gov/literature/disease/0009151	0009151	210210		C1859499	C535309	methylcrotonyl-CoA carboxylase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylcrotonyl-CoA carboxylase 2 deficiency"	1
3 beta-Hydroxysteroid dehydrogenase deficiency	3 beta-hsd deficiency//3-beta hsd deficiency//3-beta-hsd deficiency//3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia//3b-hydroxysteroid dehydrogenase deficiency//adrenal hyperplasia ii//adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency//cah - 3 beta-dehydrogenase deficiency//cah due to 3-beta-hydroxysteroid dehydrogenase deficiency//congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency//congenital adrenal hyperplasia, type 4	HSD3B2	HSD3B2	https://raresource.nih.gov/literature/disease/0009152	0009152	201810	90791	C0342471	C538236	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3 beta-Hydroxysteroid dehydrogenase deficiency"	80
Brody myopathy	brody disease	ATP2A1	ATP2A1	https://raresource.nih.gov/literature/disease/0009158	0009158	601003	53347	C1832918	C536607	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brody myopathy"	43
46,XY sex reversal 2	46,xy sex reversal type 2//46,xy sex reversal, dax1-related//46xy sex reversal 2, dosage-sensitive//dosage-sensitive sex reversal//nr0b1-related 46,xy cgd//nr0b1-related 46,xy complete gonadal dysgenesis	NR0B1	NR0B1	https://raresource.nih.gov/literature/disease/0009159	0009159	300018		C1848296	C535601	nuclear receptor subfamily 0 group B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 2"	1
Alpha-N-acetylgalactosaminidase deficiency type 2	adult-onset alpha-n-acetylgalactosaminidase deficiency//alpha-n-acetylgalactosaminidase deficiency, type ii//kanzaki disease//naga (alpha-n-acetylgalactosaminidase) deficiency type 2//naga deficiency type 2//naga deficiency, type ii//schindler disease type 2//schindler disease, type ii	NAGA	NAGA	https://raresource.nih.gov/literature/disease/0009161	0009161	609242	79280	C1836522		alpha-N-acetylgalactosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-N-acetylgalactosaminidase deficiency type 2"	11
Roifman syndrome	rfmn//spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency//spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome//spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0009163	0009163	616651	353298	C1846059	C535866	RNA, U4atac small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Roifman syndrome"	24
Rippling muscle disease 2	autosomal dominant limb-girdle muscular dystrophy caused by mutation in cav3//cav3 autosomal dominant limb-girdle muscular dystrophy//cav3 rippling muscle disease//cav3-related rippling muscle disease//lgmd1c//limb-girdle muscular dystrophy due to caveolin-3 deficiency//limb-girdle muscular dystrophy, type 1c//muscular dystrophy limb-girdle type ic//rippling muscle disease caused by mutation in cav3//rippling muscle disease type 2//rmd2	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0009164	0009164	606072		C1832560		caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rippling muscle disease 2"	24
Autosomal dominant nonsyndromic hearing loss 22	autosomal dominant nonsyndromic deafness 22//dfna 22//dfna22 nonsyndromic hearing loss and deafness	MYO6	MYO6	https://raresource.nih.gov/literature/disease/0009167	0009167	606346		C2931767	C538197	myosin VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 22"	None
Familial expansile osteolysis	feo//hereditary expansile polyostotic osteolytic dysplasia//mccabe disease//polyostotic osteolytic dysplasia, hereditary expansile	TNFRSF11A	TNFRSF11A	https://raresource.nih.gov/literature/disease/0009168	0009168	174810	85195	C0432292	C536335	TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial expansile osteolysis"	65
ADan amyloidosis	cerebellar ataxia, cataract, deafness, and dementia or psychosis//cerebral amyloid angiopathy, itm2b-related, 2//cerebral amyloid angiopathy, itm2b-related, type 2//familial danish dementia//familial dementia danish type//familial dementia, danish type//fdd//heredopathia ophthalmootoencephalica//hooe	ITM2B	ITM2B	https://raresource.nih.gov/literature/disease/0009169	0009169	117300	97346	C1861735	C538209	integral membrane protein 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ADan amyloidosis"	135
Hypotrichosis simplex	hereditary hypotrichosis simplex	LIPH;SNRPE;DSG4;LSS;LPAR6;APCDD1;RPL21	LIPH;SNRPE;DSG4;LSS;LPAR6;APCDD1;RPL21	https://raresource.nih.gov/literature/disease/0009170	0009170		55654	C1854310	C537160	lipase H; small nuclear ribonucleoprotein polypeptide E; desmoglein 4; lanosterol synthase; lysophosphatidic acid receptor 6; APC down-regulated 1; ribosomal protein L21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis simplex"	32
Palmoplantar keratoderma i, striate, focal, or diffuse	keratoderma, palmoplantar, striate form i//keratosis palmoplantaris striata i//keratosis palmoplantaris striata i, ad//palmoplantar keratoderma i, focal//palmoplantar keratoderma i, striate or diffuse//striate palmoplantar keratoderma i	DSG1	DSG1	https://raresource.nih.gov/literature/disease/0009172	0009172	148700		C2931122	C536162	desmoglein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma i, striate, focal, or diffuse"	1
Keratosis palmoplantaris striata 3	keratoderma, palmoplantar, striate form iii//keratosis palmoplantaris striata iii//keratosis palmoplantaris striata type 3//krt1 striate palmoplantar keratoderma//ppks3//striate palmoplantar keratoderma caused by mutation in krt1//striate palmoplantar keratoderma iii	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0009173	0009173	607654		C2931123	C536163	keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis palmoplantaris striata 3"	None
Kufor-Rakeb syndrome	autosomal recessive juvenile onset parkinson disease 9//autosomal recessive parkinson disease 9//krs//park9//park9 - parkinson disease 9//parkinson disease 9//parkinson disease 9, autosomal recessive, juvenile-onset	ATP13A2	ATP13A2	https://raresource.nih.gov/literature/disease/0009174	0009174	606693	306674	C1847640	C537177	ATPase cation transporting 13A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kufor-Rakeb syndrome"	113
Parkinsonian-pyramidal syndrome	autosomal recessive early-onset parkinson disease 15//autosomal recessive early-onset parkinson disease type 15//pallidopyramidal syndrome//parkinson disease 15, autosomal recessive//parkinson disease 15, autosomal recessive early-onset	FBXO7	FBXO7	https://raresource.nih.gov/literature/disease/0009175	0009175	260300	171695	C1850100	C538104	F-box protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinsonian-pyramidal syndrome"	24
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	familial recurrent arthritis//fra//papa//papa (pyogenic arthritis, pyoderma gangrenosum, acne) syndrome//papa syndrome//pyogenic sterile arthritis, pyoderma gangrenosum, and acne	PSTPIP1	PSTPIP1	https://raresource.nih.gov/literature/disease/0009176	0009176	604416	69126	C1858361	C536253	proline-serine-threonine phosphatase interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	279
Lethal congenital contracture syndrome 2	erbb3 lethal congenital contracture syndrome//lccs2//lethal congenital contractural syndrome 2//lethal congenital contracture syndrome caused by mutation in erbb3//lethal congenital contracture syndrome type 2//multiple contracture syndrome israeli-bedouin type//multiple contracture syndrome, israeli bedouin type a//multiple contracture syndrome, israeli-bedouin type	ERBB3	ERBB3	https://raresource.nih.gov/literature/disease/0009177	0009177	607598	137776	C1843478	C564369	erb-b2 receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 2"	4
MEHMO syndrome	intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity//intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome//intellectual disability, x-linked, syndromic 20//intellectual disability, x-linked, syndromic 25//intellectual disability, x-linked, syndromic, borck type//intellectual disability, x-linked, syndromic, borck type; mrxsbrk//mehmo//mehmo (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome//mehmo syndrome, x-linked recessive//mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity//mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome//mental retardation, x-linked, syndromic 20//mental retardation, x-linked, syndromic 25//mental retardation, x-linked, syndromic, borck type//mrxs20//mrxs25//mrxsbrk//syndromic x-linked intellectual disability 20//syndromic x-linked intellectual disability 25//syndromic x-linked mental retardation 20//syndromic x-linked mental retardation 25//x-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome//x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome	EIF2S3	EIF2S3	https://raresource.nih.gov/literature/disease/0009178	0009178	300148	85282	C1846278	C537451	eukaryotic translation initiation factor 2 subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEHMO syndrome"	17
Duane-radial ray syndrome	acro-renal-ocular syndrome//acrorenocular syndrome//acrorenoocular syndrome//dr syndrome//drrs//drrs - duane-radial ray syndrome//duane anomaly with radial ray abnormalities and deafness//duane-radial ray syndrome/okihiro syndrome//okihiro syndrome	SALL4	SALL4	https://raresource.nih.gov/literature/disease/0009182	0009182	607323	93293	C1623209		spalt like transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duane-radial ray syndrome"	59
Progressive pseudorheumatoid dysplasia	pprd//progressive pseudorheumatoid arthropathy of childhood//spondyloepiphyseal dysplasia tarda with progressive arthropathy//spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	CCN6	CCN6	https://raresource.nih.gov/literature/disease/0009184	0009184	208230	1159	C0432215	C535387	cellular communication network factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive pseudorheumatoid dysplasia"	357
Charcot-Marie-Tooth disease type 1D	charcot-marie-tooth disease type 1 caused by mutation in egr2//charcot-marie-tooth disease type id//charcot-marie-tooth disease, demyelinating, type 1d//charcot-marie-tooth neuropathy type 1d//charcot-marie-tooth neuropathy, type 1d//cmt1d//egr2 charcot-marie-tooth disease type 1//hereditary motor and sensory neuropathy 1d//hmsn id//hmsn1d	EGR2	EGR2	https://raresource.nih.gov/literature/disease/0009189	0009189	607678	101084	C1843247	C537985	early growth response 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 1D"	4
Charcot-Marie-Tooth disease type 1E	autosomal dominant charcot-marie-tooth neuropathy and deafness//charcot-marie-tooth disease and deafness//charcot-marie-tooth disease demyelinating type 1e//charcot-marie-tooth disease, demyelinating, type 1e//charcot-marie-tooth disease-deafness//charcot-marie-tooth disease-deafness syndrome//charcot-marie-tooth disease-hearing loss syndrome//charcot-marie-tooth neuropathy and deafness, autosomal dominant//charcot-marie-tooth neuropathy type 1e//cmt1e	PMP22	PMP22	https://raresource.nih.gov/literature/disease/0009190	0009190	118300	90658	C3495591	C537986	peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 1E"	13
Charcot-Marie-Tooth disease type 1F	charcot-marie-tooth disease type 1 caused by mutation in nefl//charcot-marie-tooth disease type if//charcot-marie-tooth disease, demyelinating, type 1f//charcot-marie-tooth neuropathy type 1f//charcot-marie-tooth neuropathy type 1f/2e//charcot-marie-tooth neuropathy, type 1f//cmt1f//nefl charcot-marie-tooth disease type 1	NEFL	NEFL	https://raresource.nih.gov/literature/disease/0009191	0009191	607734	101085	C1843164	C537987	neurofilament light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 1F"	2
Charcot-Marie-Tooth disease type 2B	autosomal dominant charcot-marie-tooth disease type 2b//charcot-marie-tooth disease type 2 caused by mutation in rab7a//charcot-marie-tooth disease, autosomal dominant, type 2b//charcot-marie-tooth disease, axonal, type 2b//charcot-marie-tooth neuropathy type 2b//cmt2b//hereditary motor and sensory neuropathy iib//hereditary motor and sensory nueropathy iib//hmsn iib//hmsn2b//rab7a charcot-marie-tooth disease type 2	RAB7A	RAB7A	https://raresource.nih.gov/literature/disease/0009192	0009192	600882	99936	C1833219	C537989	RAB7A, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2B"	40
Charcot-Marie-Tooth disease type 2E	autosomal dominant charcot-marie-tooth disease type 2e//charcot-marie-tooth disease type 2 caused by mutation in nefl//charcot-marie-tooth disease, axonal, type 2e//charcot-marie-tooth neuropathy type 2e//charcot-marie-tooth neuropathy, type 2e//cmt2e//nefl charcot-marie-tooth disease type 2	NEFL	NEFL	https://raresource.nih.gov/literature/disease/0009193	0009193	607684	99939	C1843225	C537994	neurofilament light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2E"	34
Charcot-Marie-Tooth disease axonal type 2F	autosomal dominant charcot-marie-tooth disease type 2f//charcot-marie-tooth disease type 2 caused by mutation in hspb1//charcot-marie-tooth disease, neuronal, type 2f//charcot-marie-tooth neuronal type 2f//charcot-marie-tooth neuropathy type 2f//cmt2f//hspb1 charcot-marie-tooth disease type 2	HSPB1	HSPB1	https://raresource.nih.gov/literature/disease/0009194	0009194	606595	99940	C1847823	C535413	heat shock protein family B (small) member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2F"	20
Charcot-Marie-Tooth disease type 2I	autosomal dominant charcot-marie-tooth disease type 2i//charcot-marie-tooth disease, axonal, type 2i//charcot-marie-tooth neuropathy type 2i//cmt2i	MPZ	MPZ	https://raresource.nih.gov/literature/disease/0009197	0009197	607677	99942	C3888087		myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2I"	3067
Charcot-Marie-Tooth disease type 2J	autosomal dominant charcot-marie-tooth disease type 2j//charcot-marie-tooth disease type 2 with hearing loss and pupillary abnormalities//charcot-marie-tooth disease, axonal, type 2j//charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities//charcot-marie-tooth neuropathy type 2j//charcot-marie-tooth neuropathy, type 2j//cmt2j	MPZ	MPZ	https://raresource.nih.gov/literature/disease/0009198	0009198	607736	99943	C1843153	C535417	myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2J"	4
Autosomal dominant Charcot-Marie-Tooth disease type 2K	charcot-marie-tooth disease type 2k//charcot-marie-tooth disease, axonal, autosomal dominant, type 2k//cmt2k	GDAP1	GDAP1	https://raresource.nih.gov/literature/disease/0009199	0009199		99944	C1842984		ganglioside induced differentiation associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2K"	11
Charcot-Marie-Tooth disease type 4B2	autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b2//charcot-marie-tooth disease type 4 caused by mutation in sbf2//charcot-marie-tooth disease, demyelinating, type 4b2//charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2//charcot-marie-tooth neuropathy type 4b2//charcot-marie-tooth neuropathy type 4b2 (cmt4b2)//cmt 4b2//cmt4b2//sbf2 charcot-marie-tooth disease type 4	SBF2	SBF2	https://raresource.nih.gov/literature/disease/0009200	0009200	604563	99956	C1858278	C535421	SET binding factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4B2"	9
Charcot-Marie-Tooth disease type 4C	autosomal recessive demyelinating charcot-marie-tooth disease type 4c//charcot-marie-tooth disease type 4 caused by mutation in sh3tc2//charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4c//charcot-marie-tooth disease, demyelinating, type 4c//charcot-marie-tooth neuropathy type 4c//charcot-marie-tooth neuropathy type 4c (cmt4c)//cmt 4c//cmt4c//sh3tc2 charcot-marie-tooth disease type 4	SH3TC2	SH3TC2	https://raresource.nih.gov/literature/disease/0009201	0009201	601596	99949	C1866636	C535423	SH3 domain and tetratricopeptide repeats 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4C"	50
Charcot-Marie-Tooth disease type 4E	autosomal recessive congenital hypomyelinating neuropathy//autosomal recessive congenital hypomyelinating or amyelinating neuropathy//charcot-marie-tooth disease, demyelinating, type 4e//charcot-marie-tooth neuropathy type 4e//chn1//cmt4e//congenital hypomyelinating neuropathy 1, autosomal recessive//congenital hypomyelination//hypomyelinating neuropathy, congenital, 1//hypomyelination, severe congenital//neuropathy, congenital hypomyelinating, 1//neuropathy, congenital hypomyelination	EGR2	EGR2	https://raresource.nih.gov/literature/disease/0009203	0009203	605253	99951	C4721436	C535301	early growth response 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4E"	48
Dejerine-Sottas disease	charcot-marie-tooth disease type 3//charcot-marie-tooth disease, type 3//cmt3//dejerine-sottas neuropathy//dejerine-sottas syndrome//déjérine-sottas disease//hereditary hypertrophic neuropathy//hereditary motor and sensory neuropathy 3//hereditary motor and sensory neuropathy type 3//hereditary motor and sensory neuropathy type iii//hereditary motor and sensory neuropathy, type iii//hereditary sensory-motor neuropathy, type iii//hmsn 3//hmsn iii//hmsn type iii//hmsn3//hsmn iii//hypertrophic demyelinative neuropathy of infancy//hypertrophic hereditary neuropathy//hypertrophic neuropathy of dejerine-sottas//progressive hypertrophic interstitial neuropathy	EGR2;PMP22;PRX;MPZ	EGR2;PMP22;PRX;MPZ	https://raresource.nih.gov/literature/disease/0009204	0009204	145900	64748	C0011195		early growth response 2; peripheral myelin protein 22; periaxin; myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dejerine-Sottas disease"	215
Charcot-Marie-Tooth disease dominant intermediate F	autosomal dominant intermediate charcot-marie-tooth disease type f//charcot-marie-tooth disease dominant intermediate type f//charcot-marie-tooth disease, dominant intermediate type f//cmtdif	GNB4	GNB4	https://raresource.nih.gov/literature/disease/0009206	0009206	615185	352670	C4749463		G protein subunit beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease dominant intermediate F"	2
Charcot-Marie-Tooth disease dominant intermediate D	autosomal dominant intermediate charcot-marie-tooth disease type d//charcot-marie-tooth disease caused by mutation in mpz//charcot-marie-tooth disease dominant intermediate 3//charcot-marie-tooth disease dominant intermediate type d//charcot-marie-tooth disease, dominant intermediate type d//charcot-marie-tooth neuropathy dominant intermediate d//charcot-marie-tooth neuropathy, dominant intermediate d//cmt di3//cmtdid//di-cmtd//mpz charcot-marie-tooth disease//mpz-related intermediate charcot-marie-tooth neuropathy	MPZ	MPZ	https://raresource.nih.gov/literature/disease/0009207	0009207	607791	100046	C1843075	C564333	myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease dominant intermediate D"	2
Charcot-Marie-Tooth disease type 5	charcot-marie-tooth disease with pyramidal features, autosomal dominant//charcot-marie-tooth disease, pyramidal features syndrome//charcot-marie-tooth disease-pyramidal features syndrome//charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant//cmt with pyramidal features//hereditary motor and sensory neuropathy 5//hereditary motor and sensory neuropathy type 5//hereditary motor and sensory neuropathy type v//hereditary motor and sensory neuropathy v//hereditary motor and sensory neuropathy with pyramidal features//hereditary sensory-motor neuropathy type v//hmsn 5//hmsn v//peroneal muscular atrophy with pyramidal features, autosomal dominant	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0009208	0009208	600361	64751	C4721916		mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 5"	9
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	rogers syndrome//thiamine metabolism dysfunction syndrome 1//thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)//thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)//thiamine-responsive anaemia syndrome//thiamine-responsive anemia syndrome//thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness//thiamine-responsive megaloblastic anemia syndrome//thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness//thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss//thiamine-responsive myelodysplasia//thmd1//trma	SLC19A2	SLC19A2	https://raresource.nih.gov/literature/disease/0009210	0009210	249270	49827	C0342287	C536510	solute carrier family 19 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness"	110
Schinzel phocomelia syndrome	al awadi-raas-rothschild syndrome//al-awadi/raas-rothschild syndrome//aplasia/hypoplasia of limbs and pelvis//congenital absence of ulna and fibula//limb/pelvis-hypoplasia/aplasia syndrome//phocomelia schinzel type//phocomelia, schinzel type//severe limb deficit//ulna and fibula, absence of, with severe limb deficiency	WNT7A	WNT7A	https://raresource.nih.gov/literature/disease/0009212	0009212	276820	2879	C1848651	C535612	Wnt family member 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schinzel phocomelia syndrome"	22
Tarsal-carpal coalition syndrome	nog gene-related symphalangism spectrum disorder	NOG	NOG	https://raresource.nih.gov/literature/disease/0009225	0009225	186570	1412	C1861305		noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tarsal-carpal coalition syndrome"	12
Chiari type I malformation	arnold chiari type 1//arnold chiari type i malformation//arnold-chiari malformation type 1//arnold-chiari malformation type i//arnold-chiari type i malformation//chiari 1 malformation//chiari i malformation//chiari malformation type 1//chiari malformation type i//cm1	DKK1	DKK1	https://raresource.nih.gov/literature/disease/0009233	0009233	118420	268882	C0750929		dickkopf WNT signaling pathway inhibitor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chiari type I malformation"	2407
Amyotrophic lateral sclerosis-parkinsonism-dementia complex	amyotrophic lateral sclerosis, parkinsonism, dementia of guam syndrome//amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome//amyotrophic lateral sclerosis-parkinsonism/dementia complex 1//amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1//g-pdc//guam disease//guam parkinsonism-dementia complex//lytico bodig disease//lytico-bodig disease//lytigo-bodig disease//parkinson-dementia complex of guam//parkinsonism-dementia-als complex//pdals//pdals (parkinsonism, dementia, amyotrophic lateral sclerosis) complex	TRPM7	TRPM7	https://raresource.nih.gov/literature/disease/0009239	0009239	105500	90020	C0543859		transient receptor potential cation channel subfamily M member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis-parkinsonism-dementia complex"	73
Advanced sleep phase syndrome	familial advanced sleep phase syndrome//familial advanced sleep-phase syndrome//fasps	PER2;CSNK1D;PER3	PER2;CSNK1D;PER3	https://raresource.nih.gov/literature/disease/0009242	0009242		164736	C1858496		period circadian regulator 2; casein kinase 1 delta; period circadian regulator 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Advanced sleep phase syndrome"	88
Encephalopathy due to GLUT1 deficiency	classic glucose transporter type 1 deficiency syndrome//classic glut1 deficiency syndrome//classic glut1-ds//de vivo disease//glucose transport defect, blood-brain barrier//glucose transporter protein syndrome//glucose transporter type 1 deficiency//glut-1 deficiency syndrome//glut1 deficiency syndrome 1//glut1 deficiency syndrome 1, infantile onset, severe//glut1 deficiency syndrome type 1//glut1-ds	SLC2A1	SLC2A1	https://raresource.nih.gov/literature/disease/0009265	0009265	606777	71277	C4551966	C536830	solute carrier family 2 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalopathy due to GLUT1 deficiency"	148
Thiel-Behnke corneal dystrophy	anterior limiting membrane dystrophy type 2//anterior limiting membrane dystrophy type ii//cdb type ii-corneal dystrophy of bowman's membrane, type ii//cdtb//corneal dystrophy honeycomb shaped//corneal dystrophy honeycomb-shaped//corneal dystrophy of bowman layer type 2//corneal dystrophy of bowman layer type ii//corneal dystrophy of the bowman layer type 2//curly fiber corneal dystrophy//curly fibre corneal dystrophy//honeycomb corneal dystrophy//tbcd//waardenburg-jonker corneal dystrophy	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009275	0009275	602082	98960	C1562894	C535942	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thiel-Behnke corneal dystrophy"	38
Reis-Bucklers' corneal dystrophy	anterior limiting membrane dystrophy type 1//anterior limiting membrane dystrophy type i//atypical granular corneal dystrophy//cdb type i corneal dystrophy//cdrb//corneal dystrophy of bowman layer type 1//corneal dystrophy of bowman layer type i//corneal dystrophy of bowman layer, type 1//geographic corneal dystrophy//granular corneal dystrophy type 3//granular corneal dystrophy type iii//granular corneal dystrophy, type iii//rbcd//reis-bücklers corneal dystrophy//superficial granular corneal dystrophy	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009276	0009276	608470	98961	C0339278	C535476	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reis-Bucklers' corneal dystrophy"	283
Schnyder crystalline corneal dystrophy	corneal dystrophy crystalline of schnyder//corneal dystrophy, schnyder type//crystalline corneal dystrophy//crystalline stromal dystrophy//hereditary crystalline stromal dystrophy of schnyder//sccd//scd//schnyder corneal dystrophy//schnyder crystalline cornea dystrophy//schnyder crystalline dystrophy sine crystals//schnyder's crystalline corneal dystrophy	UBIAD1	UBIAD1	https://raresource.nih.gov/literature/disease/0009277	0009277	121800	98967	C0271287	C535475	UbiA prenyltransferase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schnyder crystalline corneal dystrophy"	16331
Avellino corneal dystrophy	cda//cgd2//combined granular-lattice corneal dystrophies//combined granular-lattice corneal dystrophy//gcd2//gcdii//granular and lattice corneal dystrophies//granular corneal dystrophy type 2//granular corneal dystrophy type ii//granular corneal dystrophy, type ii//granular-lattice (avellino) corneal dystrophy//granular-lattice corneal dystrophy	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009278	0009278	607541	98963	C1275685	C535474	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Avellino corneal dystrophy"	578
Glutamate formiminotransferase deficiency	arakawa syndrome 1//deficiency of glutamate formiminotransferase//deficiency of glutamate formyltransferase//figluria//formiminoglutamic aciduria//formiminotransferase cyclodeaminase deficiency//formiminotransferase deficiency//ftcd deficiency	FTCD	FTCD	https://raresource.nih.gov/literature/disease/0009279	0009279	229100	51208	C0268609	C537425	formimidoyltransferase cyclodeaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutamate formiminotransferase deficiency"	17
Cholestasis-pigmentary retinopathy-cleft palate syndrome	cholestasis with pigmentary retinopathy and cleft palate syndrome//hardikar syndrome//hdkr	MED12	MED12	https://raresource.nih.gov/literature/disease/0009280	0009280	301068	1415	C0795969	C535632	mediator complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis-pigmentary retinopathy-cleft palate syndrome"	16
Familial atypical multiple mole melanoma syndrome	b-k mole syndrome//familial atypical mole melanoma syndrome//familial atypical mole syndrome//familial atypical multiple mole melanoma-pancreatic carcinoma syndrome//familial clark nevus syndrome//familial dysplastic nevus syndrome//famm syndrome//famm-pc syndrome//fammm syndrome	CDKN2A	CDKN2A	https://raresource.nih.gov/literature/disease/0009281	0009281		404560	C2314896		cyclin dependent kinase inhibitor 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial atypical multiple mole melanoma syndrome"	118
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	aoa1//aoa1 (ataxia oculomotor apraxia type 1)//aptx oculomotor apraxia or related oculomotor disease//ataxia oculomotor apraxia type 1//ataxia with oculomotor apraxia type 1//ataxia-oculomotor apraxia syndrome//ataxia-oculomotor apraxia type 1//ataxia-telangiectasia-like syndrome//autosomal recessive ataxia with oculomotor apraxia type 1//autosomal recessive cerebellar ataxia with oculomotor apraxia type 1//eaoh//oculomotor apraxia or related oculomotor disease caused by mutation in aptx	APTX	APTX	https://raresource.nih.gov/literature/disease/0009283	0009283	208920	1168	C1859598	C538013	aprataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	102
Atelosteogenesis type I	ao1//aoi//atelosteogenesis type 1//giant cell chondrodysplasia//spondylo-humero-femoral dysplasia//spondylohumerofemoral hypoplasia	FLNB	FLNB	https://raresource.nih.gov/literature/disease/0009287	0009287	108720	1190	C0265283	C535396	filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atelosteogenesis type I"	45
Timothy syndrome	long qt syndrome type 8//long qt syndrome with syndactyly//long qt syndrome-syndactyly syndrome//lqt8//ts	CACNA1C	CACNA1C	https://raresource.nih.gov/literature/disease/0009294	0009294	601005	65283	C1832916	C536962	calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Timothy syndrome"	891
Thanatophoric dysplasia type 1	lethal short-limbed platyspondylic dwarfism, san diego type//platyspondylic lethal skeletal dysplasia, san diego type//td1//thanatophoric dwarfism type 1//thanatophoric dysplasia type i//type 1 thanatophoric dysplasia	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0009295	0009295	187600	1860	C1868678		fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thanatophoric dysplasia type 1"	71
WHIM syndrome 1	myelokathexis, isolated//warts, hypogammaglobulinemia, infections, and myelokathexis//warts, hypogammaglobulinemia, infections, and myelokathexis syndrome//warts-hypogammaglobulinemia-infections-myelokathexis syndrome//warts-infections-leukopenia-myelokatexis syndrome//whim syndrome//whims//whims1//wilm	CXCR4	CXCR4	https://raresource.nih.gov/literature/disease/0009297	0009297	193670	51636	C5542296	C536697	C-X-C motif chemokine receptor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=WHIM syndrome 1"	177
Pyridoxine-dependent epilepsy	antiquitin deficiency//epeo4//epilepsy, early-onset, 4, vitamin b6-dependent//pyridoxine dependency with seizures//pyridoxine-dependent seizures//vitamin b6-dependent seizures	ALDH7A1	ALDH7A1	https://raresource.nih.gov/literature/disease/0009298	0009298		3006	C1849508	C536254	aldehyde dehydrogenase 7 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyridoxine-dependent epilepsy"	289
Cholangiocarcinoma	adult primary cholangiocarcinoma//adult primary cholangiocellular carcinoma//cc//cca//cholangiocar.- intra/extrahepatic//cholangiocarcinoma of biliary tract//cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)//cholangiocarcinoma, malignant//cholangiocellular carcinoma//cholangiosarcoma	BRCA2;PTPN3;BRCA1	BRCA2;PTPN3;BRCA1	https://raresource.nih.gov/literature/disease/0009304	0009304		70567	C0206698	D018281	BRCA2 DNA repair associated; protein tyrosine phosphatase non-receptor type 3; BRCA1 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholangiocarcinoma"	20911
Pediatric hepatocellular carcinoma	childhood carcinoma of the liver cell//childhood hepatocellular carcinoma//childhood-onset hcc//childhood-onset hcc (hepatocellular carcinoma)//childhood-onset hepatocellular carcinoma//paediatric carcinoma of the liver cell//paediatric hcc//pediatric carcinoma of the liver cell//pediatric hcc//pediatric hcc (hepatocellular carcinoma)	MET	MET	https://raresource.nih.gov/literature/disease/0009331	0009331		33402	C0279606		MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pediatric hepatocellular carcinoma"	30
Small cell lung carcinoma	lung oat cell carcinoma//lung small cell carcinoma//lung small cell neuroendocrine carcinoma//oat cell carcinoma of lung//oat cell carcinoma of the lung//oat cell lung cancer//oat cell lung carcinoma//sclc//sclc - small cell lung cancer//small cell cancer of the lung, somatic//small cell carcinoma of lung//small cell carcinoma of the lung//small cell lung cancer//small cell neuroendocrine carcinoma of lung//small cell neuroendocrine carcinoma of the lung//small-cell cancer of lung	RB1	RB1	https://raresource.nih.gov/literature/disease/0009344	0009344	182280	70573	C0149925	D055752	RB transcriptional corepressor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Small cell lung carcinoma"	19812
X-linked cerebral adrenoleukodystrophy	adrenoleukodystrophy x-linked cerebral form//x-cald	ABCD1	ABCD1	https://raresource.nih.gov/literature/disease/0009412	0009412		139396	C2026514		ATP binding cassette subfamily D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked cerebral adrenoleukodystrophy"	10
Pierson syndrome	microcoria and congenital nephrosis syndrome//microcoria-congenital nephrosis syndrome//microcoria-congenital nephrotic syndrome	LAMB2	LAMB2	https://raresource.nih.gov/literature/disease/0009420	0009420	609049	2670	C1836876	C537185	laminin subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pierson syndrome"	81
Hurthle cell carcinoma of thyroid	cancer of thyroid, hurthle cell//hurthle cell carcinoma of the thyroid//hurthle cell carcinoma of the thyroid gland//hurthle cell carcinoma of thyroid gland//hurthle cell thyroid gland carcinoma//hurthle cell thyroid neoplasia//oncocytic carcinoma of the thyroid//oncocytic carcinoma of thyroid//thyroid carcinoma, hurthle cell//thyroid gland hurthle cell carcinoma//thyroid gland oncocytic follicular carcinoma//thyroid hurthle cell carcinoma//thyroid oncocytic carcinoma	NDUFA13	NDUFA13	https://raresource.nih.gov/literature/disease/0009428	0009428	607464		C0749424	C536913	NADH:ubiquinone oxidoreductase subunit A13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hurthle cell carcinoma of thyroid"	42
Rhizomelic chondrodysplasia punctata type 2	chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency//dhapat deficiency//dihydroxyacetonephosphate acyltransferase deficiency//glyceronephosphate o-acyltransferase (gnpat) deficiency//gnpat rhizomelic chondrodysplasia punctata//peroxisomal dihydroxyacetonephosphate acyltransferase deficiency//rcdp2//rhizomelic chondrodysplasia punctata caused by mutation in gnpat//type 2 rhizomelic chondrodysplasia punctata	GNPAT	GNPAT	https://raresource.nih.gov/literature/disease/0009429	0009429	222765	309796	C1857242	C537607	glyceronephosphate O-acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhizomelic chondrodysplasia punctata type 2"	12
Upshaw-Schulman syndrome	congenital adamts-13 deficiency//congenital adamts13 deficiency//congenital thrombotic thrombocytopenic purpura//congenital ttp//familial thrombotic thrombocytopenia purpura//familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome//familial ttp//familial ttp/hus//hereditary thrombotic thrombocytopenic purpura//thrombotic thrombocytopenic purpura, hereditary//ttp	ADAMTS13	ADAMTS13	https://raresource.nih.gov/literature/disease/0009430	0009430	274150	93583	C1268935		ADAM metallopeptidase with thrombospondin type 1 motif 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Upshaw-Schulman syndrome"	3420
Temple-Baraitser syndrome	severe intellectual disability, hypoplasia of thumb and hallux syndrome//severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome//severe mental retardation and absent nails of hallux and pollex//tmbts	KCNH1	KCNH1	https://raresource.nih.gov/literature/disease/0009441	0009441	611816	420561	C2678486	C567516	potassium voltage-gated channel subfamily H member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Temple-Baraitser syndrome"	17
Glycogen storage disease type III	agl glycogen storage disease//amylo 1,6 glucosidase deficiency//amylo-1,6-glucosidase deficiency//cori disease//cori's disease//cori-forbes disease//debrancher deficiency glycogen storage disease//debrancher enzyme deficiency//deficiency of debranching enzyme//deficiency of dextrin//forbes disease//gde deficiency//glycogen storage disease caused by mutation in agl//glycogen storage disease due to glycogen debranching enzyme deficiency//glycogen storage disease iii//glycogen storage disease type 3//glycogenosis due to glycogen debranching enzyme deficiency//glycogenosis type 3//glycogenosis type iii//gsd due to glycogen debranching enzyme deficiency//gsd iii//gsd type 3//gsd3//gsdiii//limit dextrin - glycogen//limit dextrinosis	AGL	AGL	https://raresource.nih.gov/literature/disease/0009442	0009442	232400	366	C0017922	D006010	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease type III"	280
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	saddan//saddan dysplasia//severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0009443	0009443	616482	85165	C2674173		fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	21
Pilomatrixoma	benign calcifying epithelioma//benign calcifying epithelioma of malherbe//calcifying epithelioma of malherbe//calcifying epitherlioma of malherbe//epithelioma calcificans of malherbe//pilomatricoma//pilomatricoma, somatic//pilomatrixoma, benign//ptr	CTNNB1	CTNNB1	https://raresource.nih.gov/literature/disease/0009452	0009452	132600	91414	C0206711	D018296	catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pilomatrixoma"	984
Andersen Tawil syndrome	andersen cardiodysrhythmic periodic paralysis//andersen syndrome//long qt syndrome 7//long qt syndrome type 7//lqt7//periodic paralysis, potassium-sensitive cardiodysrhythmic type//potassium-sensitive cardiodysrhythmic type//potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features	KCNJ2	KCNJ2	https://raresource.nih.gov/literature/disease/0009453	0009453	170390	37553	C1563715	D050030	potassium inwardly rectifying channel subfamily J member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Andersen Tawil syndrome"	276
Joubert syndrome with oculorenal defect	arima syndrome//cerebello-oculo-renal syndrome//cerebellooculorenal syndrome//cors//dekaban-arima syndrome//joubert syndrome with bilateral chorioretinal coloboma//joubert syndrome with senior-loken syndrome//js type b//js-or	TMEM216;CEP290;TMEM231;TMEM138;ZNF423;CC2D2A;TMEM237	TMEM216;CEP290;TMEM231;TMEM138;ZNF423;CC2D2A;TMEM237	https://raresource.nih.gov/literature/disease/0009455	0009455	243910	2318	C1855675	C537430	transmembrane protein 216; centrosomal protein 290; transmembrane protein 231; transmembrane protein 138; zinc finger protein 423; coiled-coil and C2 domain containing 2A; transmembrane protein 237	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with oculorenal defect"	400
X-linked sideroblastic anemia 1	anemia, hereditary sideroblastic 1, pyridoxine refractory//anemia, sideroblastic, 1//anemia, sideroblastic, 1, pyridoxine refractory//anemia, sideroblastic, 1, x-linked recessive//congenital sideroblastic anemia//erythroid 5-aminolevulinate synthase deficiency//sideroblastic anemia, x-linked//x chromosome-linked sideroblastic anemia//x-linked pyridoxine-refractory sideroblastic anemia//x-linked sideroblastic anaemia//x-linked sideroblastic anemia//xlsa	ALAS2	ALAS2	https://raresource.nih.gov/literature/disease/0009456	0009456	300751	75563	C4551511	C536761	5'-aminolevulinate synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked sideroblastic anemia 1"	258
Autosomal dominant polycystic liver disease	ad polycystic liver disease//adpcld//adpld//congenital cystic disease of liver//congenital cystic liver//congenital hepatic cyst//congenital polycystic disease of liver//congenital polycystic liver disease//cystic disease of liver//fibrocystic disease of liver//fibrocystic liver disease//isolated congenital polycystic liver disease//isolated polycystic liver disease//pcld//pld - polycystic liver disease//polycystic liver disease	PRKCSH;SEC63;LRP5;ALG8	PRKCSH;SEC63;LRP5;ALG8	https://raresource.nih.gov/literature/disease/0009457	0009457		2924	C0158683		PRKCSH beta subunit of glucosidase II; SEC63 homolog, protein translocation regulator; LDL receptor related protein 5; ALG8 alpha-1,3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant polycystic liver disease"	824
Loeys-Dietz syndrome 1	aortic aneurysm, familial thoracic 5//furlong syndrome//lds1//loeys-dietz syndrome caused by mutation in tgfbr1//loeys-dietz syndrome type 1//tgfbr1 loeys-dietz syndrome//tgfbr1-related loeys-dietz syndrome//tgfbr1-related thoracic aortic aneurysms and aortic dissections	TGFBR1	TGFBR1	https://raresource.nih.gov/literature/disease/0009458	0009458	609192		C4551955		transforming growth factor beta receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-Dietz syndrome 1"	6
Alzheimer disease type 1	ad1//alzheimer disease 1, familial//alzheimer disease, familial, 1//alzheimer disease, familial, 1, autosomal recessive	MPO;APP;PLAU;NOS3	MPO;APP;PLAU;NOS3	https://raresource.nih.gov/literature/disease/0009465	0009465	104300		C1863052	C536594	myeloperoxidase; amyloid beta precursor protein; plasminogen activator, urokinase; nitric oxide synthase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzheimer disease type 1"	7
Melorheostosis	mel//melorheostosis, isolated//melorheostosis, isolated, somatic mosaic	MAP2K1	MAP2K1	https://raresource.nih.gov/literature/disease/0009474	0009474	155950	2485	C3149631	D008557	mitogen-activated protein kinase kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melorheostosis"	5908
Methylmalonic aciduria, cblB type	macb//methylmalonic acidemia cblb type//methylmalonic acidemia, cblb type//methylmalonic aciduria, vitamin b12-responsive, cblb type//methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type//methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type//vitamin b12-responsive methylmalonic acidemia type cblb//vitamin b12-responsive methylmalonic aciduria, type cblb	MMAB	MMAB	https://raresource.nih.gov/literature/disease/0009479	0009479	251110	79311	C1855102		metabolism of cobalamin associated B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic aciduria, cblB type"	7
Glaucoma 1, open angle, A	glaucoma 1, open angle, type a//glaucoma 1a, primary open angle//glaucoma, dominant (juvenile onset)//glc1a//joag1a//juvenile glaucoma caused by mutation in myoc//juvenile open angle glaucoma caused by mutation in myoc//myoc juvenile glaucoma//myoc juvenile open angle glaucoma	MYOC	MYOC	https://raresource.nih.gov/literature/disease/0009485	0009485	137750		C1842028	C564234	myocilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 1, open angle, A"	2
Congenital anosmia	anic//isolated congenital anosmia	CNGA2;TENM1	CNGA2;TENM1	https://raresource.nih.gov/literature/disease/0009486	0009486	107200	88620	C0393778	C535983	cyclic nucleotide gated channel subunit alpha 2; teneurin transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital anosmia"	95
Isolated congenital breast hypoplasia/aplasia	amazia//aplasia or hypoplasia of breasts and/or nipples//breasts and/or nipples, aplasia or hypoplasia of//congenital absence of breast with absent nipple//isolated congenital amastia	PTPRF	PTPRF	https://raresource.nih.gov/literature/disease/0009489	0009489		180188	C0432357		protein tyrosine phosphatase receptor type F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital breast hypoplasia/aplasia"	6
Leber congenital amaurosis 9	amaurosis congenita of leber, type 9//lca 9//lca9//lca9 leber congenital amaurosis//leber congenital amaurosis caused by mutation in nmnat1//leber congenital amaurosis type 9//nmnat1 leber congenital amaurosis//nmnat1-related leber congenital amaurosis	NMNAT1	NMNAT1	https://raresource.nih.gov/literature/disease/0009491	0009491	608553		C1837873	C536603	nicotinamide nucleotide adenylyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 9"	6
GNE myopathy	distal myopathy with rimmed vacuoles//distal myopathy, nonaka type//dmrv//hereditary inclusion body myopathy//hereditary inclusion body myopathy type 2//hibm2//ibm 2//ibm2//inclusion body myopathy 2//inclusion body myopathy 2, autosomal recessive//inclusion body myopathy autosomal recessive//inclusion body myopathy quadriceps sparing//inclusion body myopathy type 2//inclusion body myopathy, hereditary, autosomal recessive//myopathy, distal, with or without rimmed vacuoles//nm//nonaka distal myopathy//nonaka myopathy//quadricep sparing inclusion body myopathy//quadriceps-sparing myopathy//rimmed vacuole myopathy	GNE	GNE	https://raresource.nih.gov/literature/disease/0009493	0009493	605820	602	C1853926		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GNE myopathy"	1277
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	hereditary inclusion body myopathy type 3//hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome//hibm3//ibm3//inclusion body myopathy type 3	MYH2	MYH2	https://raresource.nih.gov/literature/disease/0009494	0009494		79091	C4510610		myosin heavy chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	1
Amelogenesis imperfecta type 2A1	ai2a1//amelogenesis imperfecta caused by mutation in klk4//amelogenesis imperfecta pigmented hypomaturation type 1//amelogenesis imperfecta type iia1//amelogenesis imperfecta, pigmented hypomaturation type, 1//amelogenesis imperfecta, type iia1//klk4 amelogenesis imperfecta	KLK4	KLK4	https://raresource.nih.gov/literature/disease/0009495	0009495	204700		C2673922	C538242;C567146	kallikrein related peptidase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 2A1"	None
Familial renal hypouricemia	hereditary renal hypouricemia	SLC22A12;SLC2A9	SLC22A12;SLC2A9	https://raresource.nih.gov/literature/disease/0009496	0009496		94088	C4551590	C537757	solute carrier family 22 member 12; solute carrier family 2 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial renal hypouricemia"	50
Ichthyosis hystrix gravior	ichthyosis histrix, lambert type//ichthyosis lambert type//ichthyosis, lambert type	KRT10	KRT10	https://raresource.nih.gov/literature/disease/0009497	0009497	146600		C0432311	C536087	keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis hystrix gravior"	1
Deficiency of ferroxidase	acep//aceruloplasminaemia//aceruloplasminemia//ceruloplasmin deficiency//deficiency of ceruloplasmin//familial apoceruloplasmin deficiency//hereditary ceruloplasmin deficiency//hypoceruloplasminemia, hereditary//neurodegeneration with brain iron accumulation 10	CP	CP	https://raresource.nih.gov/literature/disease/0009499	0009499	604290	48818	C0878682		ceruloplasmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of ferroxidase"	182
Porokeratosis 3, disseminated superficial actinic type	porok3//porokeratosis 3, mibelli type//porokeratosis 3, multiple types//porokeratosis, disseminated superficial actinic, 1	MVK	MVK	https://raresource.nih.gov/literature/disease/0009505	0009505	175900		C1867981	C536339	mevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 3, disseminated superficial actinic type"	None
Craniosynostosis-anal anomalies-porokeratosis syndrome	cap syndrome//cdags (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome//cdags syndrome//craniosynostosis, anal anomaly, porokeratosis syndrome	RNU12	RNU12	https://raresource.nih.gov/literature/disease/0009506	0009506	603116	85199	C1864186	C536789	RNA, U12 small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis-anal anomalies-porokeratosis syndrome"	6
Congenital blue dot cataract	blue-dot cataract//cataracts, congenital, cerulean//cerulean cataract	CRYGD;MIP;MAF;CRYBB2	CRYGD;MIP;MAF;CRYBB2	https://raresource.nih.gov/literature/disease/0009508	0009508		98989	C0344523	C537955	crystallin gamma D; major intrinsic protein of lens fiber; MAF bZIP transcription factor; crystallin beta B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital blue dot cataract"	26
Renpenning syndrome	golabi-ito-hall syndrome//hamel cerebropalatocardiac syndrome//mental retardation, x-linked 55//mental retardation, x-linked renpenning type//mental retardation, x-linked, syndromic 8//porteous syndrome//renpenning syndrome type 1//renpenning syndrome, x-linked recessive//sutherland-haan syndrome//sutherland-haan x-linked intellectual disability syndrome//sutherland-haan x-linked mental retardation syndrome//syndromic x-linked intellectual disability 8//syndromic x-linked mental retardation 8//x-linked intellectual deficit due to pqbp1 mutation//x-linked intellectual disability due to pqbp1 mutations//x-linked intellectual disability renpenning type//x-linked intellectual disability with spastic diplegia//x-linked intellectual disability, renpenning type//x-linked mental retardation renpenning type//x-linked mental retardation syndromic 3//x-linked mental retardation with spastic diplegia	PQBP1	PQBP1	https://raresource.nih.gov/literature/disease/0009509	0009509	309500	3242	C0796135	C537761	polyglutamine binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renpenning syndrome"	45
Bilateral multicystic dysplastic kidney	bilateral mcdk//bilateral multicystic renal dysplasia//multicystic renal dysplasia, bilateral	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0009517	0009517		97364	C1840451		HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral multicystic dysplastic kidney"	9
Immunodeficiency 79	cd4 deficiency//imd79	CD4	CD4	https://raresource.nih.gov/literature/disease/0009523	0009523	619238		C5543220		CD4 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 79"	21
Immunodeficiency 32B	caebv (chronic active epstein-barr virus infection) syndrome//caebv syndrome//chronic ebv (epstein-barr virus) infection syndrome//chronic ebv infection syndrome//chronic epstein-barr virus infection syndrome//imd32b//immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive//immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive//irf8 deficiency, autosomal recessive//monocyte and dendritic cell deficiency, autosomal recessive	IRF8	IRF8	https://raresource.nih.gov/literature/disease/0009534	0009534	226990	2566	C4751209		interferon regulatory factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 32B"	2
Familial cold autoinflammatory syndrome	cold-induced autoinflammatory syndrome, familial//familial cold urticaria//fcas//fcas - familial cold autoinflammatory syndrome//fcu//fcu - familial cold urticaria	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0009535	0009535		47045	C0343068		NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cold autoinflammatory syndrome"	199
MHC class I deficiency	bare lymphocyte syndrome type 1//bare lymphocyte syndrome type i//bare lymphocyte syndrome, type i//bls, type i//blsi//hla class i deficiency//immunodeficiency by defective expression of hla (human leukocyte antigen) class 1//immunodeficiency by defective expression of hla class 1//immunodeficiency by defective expression of hla class type 1//immunodeficiency by defective expression of human leukocyte antigen class 1//immunodeficiency by defective expression of human leukocyte antigen class i//immunodeficiency by defective expression of major histocompatibility complex class i//immunodeficiency by defective expression of mhc class i//major histocompatibility complex class i deficiency//mhc (major histocompatibility complex) class i deficiency	B2M;TAPBP;TAP1;TAP2	B2M;TAPBP;TAP1;TAP2	https://raresource.nih.gov/literature/disease/0009548	0009548		34592	C1858266		beta-2-microglobulin; TAP binding protein; transporter 1, ATP binding cassette subfamily B member; transporter 2, ATP binding cassette subfamily B member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class I deficiency"	61
Autosomal dominant severe congenital neutropenia	severe congenital neutropenia, autosomal dominant	TCIRG1;CLPB;GFI1;ELANE;SRP19	TCIRG1;CLPB;GFI1;ELANE;SRP19	https://raresource.nih.gov/literature/disease/0009558	0009558		486	C4749612		T cell immune regulator 1, ATPase H+ transporting V0 subunit a3; ClpB family mitochondrial disaggregase; growth factor independent 1 transcriptional repressor; elastase, neutrophil expressed; signal recognition particle 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant severe congenital neutropenia"	None
Papillary renal cell carcinoma	chromophil carcinoma of kidney//chromophil carcinoma of the kidney//chromophil renal cell carcinoma//hprcc//papillary (chromophil) renal cell carcinoma//papillary kidney carcinoma//papillary renal carcinoma, malignant - (subtype)//papillary renal cell adenocarcinoma//papillary renal cell cancer//papillary renal cell carcinoma, bilateral - (subtype)//papillary renal cell carcinoma, familial - (subtype)//papillary renal cell carcinoma, multiple - (subtype)//papillary renal cell carcinoma, sporadic - (subtype)//rccp//renal cell carcinoma, papillary, type 1//sporadic papillary renal cell carcinoma	MET	MET	https://raresource.nih.gov/literature/disease/0009572	0009572		319298	C1306837		MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Papillary renal cell carcinoma"	1270
Acute fatty liver of pregnancy	aflp//aflp - acute fatty liver of pregnancy//nonalcoholic fatty liver during pregnancy	HADHA	HADHA	https://raresource.nih.gov/literature/disease/0009578	0009578		243367	C1455728	C537957	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute fatty liver of pregnancy"	658
Hereditary spastic paraplegia 15	autosomal recessive complex spastic paraplegia caused by mutation in zfyve26//autosomal recessive spastic paraplegia 15//autosomal recessive spastic paraplegia type 15//hereditary spastic paraparesis type 15//hereditary spastic paraplegia type 15//kjellin syndrome//spastic paraplegia 15, autosomal recessive//spastic paraplegia and retinal degeneration//spastic paraplegia, retinal degeneration syndrome//spastic paraplegia-retinal degeneration syndrome//spg15//zfyve26 autosomal recessive complex spastic paraplegia	ZFYVE26	ZFYVE26	https://raresource.nih.gov/literature/disease/0009581	0009581	270700	100996	C1849128	C536642	zinc finger FYVE-type containing 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 15"	20
Hereditary spastic paraplegia 9A	ad-spg9a//autosomal dominant complex spastic paraplegia type 9a//autosomal dominant spastic paraplegia 9a//autosomal dominant spastic paraplegia type 9a//cataracts motor neuropathy-short stature-skeletal anomalies syndrome//cataracts with motor neuronopathy, short stature and skeletal abnormalities//cataracts with motor neuronopathy, short stature, and skeletal abnormalities//cataracts, motor neuropathy, short stature, skeletal anomalies syndrome//hereditary spastic paraplegia type 9a//spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux//spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux//spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome//spastic paraplegia 9a, autosomal dominant//spg9a	ALDH18A1	ALDH18A1	https://raresource.nih.gov/literature/disease/0009583	0009583	601162	447753	C5568978	C536868	aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 9A"	3
Hereditary spastic paraplegia 12	autosomal dominant spastic paraplegia 12//autosomal dominant spastic paraplegia type 12//hereditary spastic paraplegia caused by mutation in rtn2//hereditary spastic paraplegia type 12//rtn2 hereditary spastic paraplegia//spastic paraplegia 12//spastic paraplegia 12, autosomal dominant//spg12	RTN2	RTN2	https://raresource.nih.gov/literature/disease/0009586	0009586	604805	100993	C1858106	C537484	reticulon 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 12"	2
Hereditary spastic paraplegia 26	autosomal recessive spastic paraplegia 26//autosomal recessive spastic paraplegia type 26//gm2 synthase deficiency//hereditary spastic paraplegia type 26//spastic paraplegia 26, autosomal recessive//spg26	B4GALNT1	B4GALNT1	https://raresource.nih.gov/literature/disease/0009587	0009587	609195	101006	C1836632	C536862	beta-1,4-N-acetyl-galactosaminyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 26"	4
Hereditary spastic paraplegia 10	autosomal dominant spastic paraplegia 10//autosomal dominant spastic paraplegia type 10//hereditary spastic paraplegia caused by mutation in kif5a//hereditary spastic paraplegia type 10//kif5a hereditary spastic paraplegia//spastic paraplegia 10 with or without peripheral neuropathy//spastic paraplegia 10 with peripheral neuropathy//spastic paraplegia 10, autosomal dominant//spg10	KIF5A	KIF5A	https://raresource.nih.gov/literature/disease/0009590	0009590	604187	100991	C1858712	C537482	kinesin family member 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 10"	13
Hereditary spastic paraplegia 8	autosomal dominant spastic paraplegia 8//autosomal dominant spastic paraplegia type 8//hereditary spastic paraplegia caused by mutation in washc5//hereditary spastic paraplegia type 8//spastic paraplegia 8, autosomal dominant//spg8//washc5 hereditary spastic paraplegia	WASHC5	WASHC5	https://raresource.nih.gov/literature/disease/0009591	0009591	603563	100989	C1863704	C580458	WASH complex subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 8"	12
Atransferrinemia	congenital atransferrinaemia//congenital atransferrinemia//congenital hypotransferrinemia//familial hypotransferrinemia//hereditary atransferrinemia	TF	TF	https://raresource.nih.gov/literature/disease/0009595	0009595	209300	1195	C0521802	C538259	transferrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atransferrinemia"	55
Episodic ataxia type 2	acetazolamide-responsive hereditary paroxysmal cerebellar ataxia//ataxia, episodic, with nystagmus//ataxia, familial paroxysmal//cacna1a hereditary episodic ataxia//cerebellar ataxia, paroxysmal, acetazolamide-responsive//cerebellopathy, hereditary paroxysmal//ea2//episodic ataxia type 2 (ea2)//episodic ataxia, nystagmus-associated//familial paroxysmal ataxia//hereditary episodic ataxia caused by mutation in cacna1a	CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0009602	0009602	108500	97	C1720416	C535506	calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic ataxia type 2"	317
Spinocerebellar ataxia 27A	nys4//nystagmus 4, congenital, autosomal dominant//vestibulocerebellar disorder with predominant ocular signs	FGF14	FGF14	https://raresource.nih.gov/literature/disease/0009603	0009603			CN031884	C537856	fibroblast growth factor 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 27A"	1
Nystagmus, congenital, autosomal recessive		ROBO1	ROBO1	https://raresource.nih.gov/literature/disease/0009609	0009609	257400		C3151571	C564938	roundabout guidance receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nystagmus, congenital, autosomal recessive"	None
Spinocerebellar ataxia type 13	sca13	KCNC3	KCNC3	https://raresource.nih.gov/literature/disease/0009611	0009611	605259	98768	C1854488	C537195	potassium voltage-gated channel subfamily C member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 13"	30
Hereditary spastic paraplegia 13	autosomal dominant spastic paraplegia 13//autosomal dominant spastic paraplegia type 13//hereditary spastic paraplegia caused by mutation in hspd1//hereditary spastic paraplegia type 13//hspd1 hereditary spastic paraplegia//spastic paraplegia 13//spastic paraplegia 13, autosomal dominant//spg13	HSPD1	HSPD1	https://raresource.nih.gov/literature/disease/0009616	0009616	605280	100994	C1854467	C537485	heat shock protein family D (Hsp60) member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 13"	4
Axenfeld-Rieger syndrome type 3	anterior chamber cleavage syndrome//axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss//axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss//axenfeld-rieger syndrome caused by mutation in foxc1//foxc1 axenfeld-rieger syndrome//rieg3//rieger syndrome type 3	FOXC1	FOXC1	https://raresource.nih.gov/literature/disease/0009626	0009626	602482		C2678503		forkhead box C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Axenfeld-Rieger syndrome type 3"	14
Dystonia 12	atp1a3 dystonic disorder//dystonia type 12//dystonic disorder caused by mutation in atp1a3//dyt-atp1a3//dyt12//dyt12 - dystonia 12//rapid onset dystonia parkinsonism//rapid-onset dystonia-parkinsonism	ATP1A3	ATP1A3	https://raresource.nih.gov/literature/disease/0009628	0009628	128235	71517	C1868681	C538001	ATPase Na+/K+ transporting subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 12"	64
Torsion dystonia 6	dystonia 6//dyt-thap1//dyt6//generalised cervical and upper-limb-onset dystonia//generalised isolated dystonia caused by mutation in thap1//generalized cervical and upper-limb-onset dystonia//generalized isolated dystonia caused by mutation in thap1//idiopathic torsion dystonia of mixed type//primary dystonia, dyt6 type//thap1 dystonia//thap1 generalised isolated dystonia//thap1 generalized isolated dystonia//torsion dystonia type 6	THAP1	THAP1	https://raresource.nih.gov/literature/disease/0009630	0009630	602629	98806	C1414216	C538003	THAP domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Torsion dystonia 6"	36
Odontoleukodystrophy	dentoleukoencephalopathy	POLR3A	POLR3A	https://raresource.nih.gov/literature/disease/0009632	0009632		77295	C3502054		RNA polymerase III subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odontoleukodystrophy"	None
Autosomal agammaglobulinemia	agammaglobulinemia, non-bruton type//agm//agm1	SPI1;LRRC8A;IGLL1;PIK3CD;BLNK;CD79B;TCF3;PIK3R1;CD79A;IGHM	SPI1;LRRC8A;IGLL1;PIK3CD;BLNK;CD79B;TCF3;PIK3R1;CD79A;IGHM	https://raresource.nih.gov/literature/disease/0009640	0009640		33110	C1832241	C538056	Spi-1 proto-oncogene; leucine rich repeat containing 8 VRAC subunit A; immunoglobulin lambda like polypeptide 1; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta; B cell linker; CD79b molecule; transcription factor 3; phosphoinositide-3-kinase regulatory subunit 1; CD79a molecule; immunoglobulin heavy constant mu	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal agammaglobulinemia"	77
Autosomal recessive juvenile Parkinson disease 2	autosomal recessive juvenile parkinson disease type 2//juvenile parkinsonism//parkin type of early-onset parkinson disease//parkin type of juvenile parkinson disease//parkinson disease autosomal recessive, early onset//parkinson disease, juvenile, autosomal recessive//parkinson disease, juvenile, type 2//parkinsonism, early onset, with diurnal fluctuation//prkn young-onset parkinson disease//young-onset parkinson disease caused by mutation in prkn	PRKN	PRKN	https://raresource.nih.gov/literature/disease/0009642	0009642	600116		C1868675		parkin RBR E3 ubiquitin protein ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive juvenile Parkinson disease 2"	176
Gelatinous droplike corneal dystrophy	amyloid corneal dystrophy, japanese type//corneal amyloidosis//corneal dystrophy, gelatinous drop-like//gdcd//gdld//lattice corneal dystrophy type iii//primary familial amyloidosis of the cornea//subepithelial amyloidosis of the cornea	TACSTD2	TACSTD2	https://raresource.nih.gov/literature/disease/0009647	0009647	204870	98957	C0339273	C535480	tumor associated calcium signal transducer 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gelatinous droplike corneal dystrophy"	113
Achromatopsia 2	achm2//achromatopsia caused by mutation in cnga3//achromatopsia type 2//cnga3 achromatopsia//colorblindness, total//rmch2//rod monochromacy 2//rod monochromatism 2	CNGA3	CNGA3	https://raresource.nih.gov/literature/disease/0009649	0009649			C1857618	C536128	cyclic nucleotide gated channel subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia 2"	17
Achromatopsia 3	achm1//achm3//achromatopsia caused by mutation in cngb3//achromatopsia type 3//achromatopsia with myopia//cngb3 achromatopsia//rmch1//rod monochromacy 1//rod monochromatism 1//total colorblindness with myopia	CNGB3	CNGB3	https://raresource.nih.gov/literature/disease/0009650	0009650	262300		C1849792		cyclic nucleotide gated channel subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia 3"	8
Anauxetic dysplasia	anauxetic dysplasia type 1//spondyloepimetaphyseal dysplasia anauxetic type//spondyloepimetaphyseal dysplasia menger type//spondyloepimetaphyseal dysplasia, anauxetic type//spondyloepimetaphyseal dysplasia, menger type//spondylometaepiphyseal dysplasia, anauxetic type//spondylometaepiphyseal dysplasia, menger type	RMRP;RMP64;POP1	RMRP;RMP64;POP1	https://raresource.nih.gov/literature/disease/0009657	0009657		93347	C1846796	C538256	RNA component of mitochondrial RNA processing endoribonuclease; ribonuclease MRP subunit p64; POP1 homolog, ribonuclease P/MRP subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anauxetic dysplasia"	82
Bartter disease type 3	adult bartter syndrome//barts3//bartter syndrome type 3//bartter syndrome type iii//bartter's syndrome type 3//classic bartter syndrome	CLCNKB	CLCNKB	https://raresource.nih.gov/literature/disease/0009659	0009659	607364	93605	C1846343		chloride voltage-gated channel Kb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter disease type 3"	69
Leber congenital amaurosis 3	lca3//leber congenital amaurosis caused by mutation in spata7//leber congenital amaurosis type 3//retinitis pigmentosa, juvenile, autosomal recessive//spata7 leber congenital amaurosis//spata7-related leber congenital amaurosis//spata7-related retinitis pigmentosa	SPATA7	SPATA7	https://raresource.nih.gov/literature/disease/0009661	0009661	604232		C1858677	C565814	spermatogenesis associated 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 3"	1
Leber congenital amaurosis 4	aipl1 leber congenital amaurosis//aipl1-related leber congenital amaurosis//lca4//leber congenital amaurosis caused by mutation in aipl1//leber congenital amaurosis type 4	AIPL1	AIPL1	https://raresource.nih.gov/literature/disease/0009662	0009662	604393		C1858386	C565778	AIP like 1 HSP90 co-chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 4"	11
Hereditary factor XI deficiency disease	congenital factor xi deficiency//congenital factor xi deficiency disease//factor xi deficiency, autosomal dominant//factor xi deficiency, autosomal recessive//haemophilia c//hemophilia c//hereditary factor xi deficiency//plasma thromboplastin antecedent deficiency//pta deficiency//rosenthal factor deficiency//rosenthal syndrome//rosenthal's disease//thromboplastin antecedent deficiency	F11	F11	https://raresource.nih.gov/literature/disease/0009670	0009670	612416	329	C0015523	D005173	coagulation factor XI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary factor XI deficiency disease"	166
Mowat-Wilson syndrome	hirschsprung disease intellectual disability syndrome//hirschsprung disease mental retardation syndrome//hirschsprung disease-intellectual disability syndrome//hirschsprung disease-mental retardation syndrome//microcephaly, intellectual disability, and distinct facial featrues, with or without hirschprung disease//microcephaly, mental retardation, and distinct facial featrues, with or without hirschprung disease//mows	ZEB2	ZEB2	https://raresource.nih.gov/literature/disease/0009673	0009673	235730	2152	C1856113	C536990	zinc finger E-box binding homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mowat-Wilson syndrome"	213
Miyoshi myopathy	miyoshi distal myopathy//miyoshi muscular dystrophy//mm	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0009676	0009676		45448	C5553104	C537480	dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Miyoshi myopathy"	23472
Groenouw corneal dystrophy type I	cdgg1//classic gcd//classic granular corneal dystrophy//corneal dystrophy groenouw type i//gcd1//gcdi//granular corneal dystrophy type 1//granular corneal dystrophy type i//granular corneal dystrophy, type i	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009677	0009677	121900	98962	C1641846	C537304	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Groenouw corneal dystrophy type I"	29
Lattice corneal dystrophy Type I	biber-haab-dimmer dystrophy//cdl1//classic lattice corneal dystrophy//lattice corneal dystrophy type 1//lcd1//lcdi	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009678	0009678	122200	98964	C1690006	C537881	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lattice corneal dystrophy Type I"	74
Temtamy preaxial brachydactyly syndrome	preaxial brachydactyly syndrome, temtamy type//tpbs	CHSY1	CHSY1	https://raresource.nih.gov/literature/disease/0009679	0009679	605282	363417	C1854466	C536958	chondroitin sulfate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Temtamy preaxial brachydactyly syndrome"	7
RHYNS syndrome	retinitis pigmentosa syndrome//retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia//retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome//retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome//rhyns (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome	TMEM67	TMEM67	https://raresource.nih.gov/literature/disease/0009681	0009681	602152	140976	C1865794	C537612	transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RHYNS syndrome"	257
Rhizomelic chondrodysplasia punctata type 3	agps rhizomelic chondrodysplasia punctata//alkyldihydroxyacetonephosphate synthase deficiency//alkylglycerone phosphate synthase (agps) deficiency//rcdp3//rhizomelic chondrodysplasia punctata caused by mutation in agps	AGPS	AGPS	https://raresource.nih.gov/literature/disease/0009682	0009682	600121	309803	C1838612	C537608	alkylglycerone phosphate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhizomelic chondrodysplasia punctata type 3"	8
Chylomicron retention disease	anderson disease//anderson syndrome//cmrd//crd//hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells//lipid transport defect of intestine	SAR1B	SAR1B	https://raresource.nih.gov/literature/disease/0009683	0009683	246700	71	C0795956	C535460	secretion associated Ras related GTPase 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chylomicron retention disease"	993
Meesmann corneal dystrophy	juvenile epithelial corneal dystrophy//juvenile epithelial of meesmann corneal dystrophy//juvenile hereditary epithelial dystrophy//juvenile hereditary epithelial dystrophy of meesmann//mecd//meesman's corneal dystrophy//meesman's epithelial corneal dystrophy//stocker-holt dystrophy	KRT3;KRT12	KRT3;KRT12	https://raresource.nih.gov/literature/disease/0009688	0009688		98954	C0339277	D053559	keratin 3; keratin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meesmann corneal dystrophy"	147
Familial infantile myasthenia	chat congenital myasthenic syndrome//chat-related congenital myasthenic syndrome//cms ia2//cms1a2//cms6//cmsea//congenital myasthenic syndrome 6//congenital myasthenic syndrome 6, presynaptic//congenital myasthenic syndrome caused by mutation in chat//congenital myasthenic syndrome type 6//congenital myasthenic syndrome type ia2//congenital presynaptic myasthenic syndrome associated with episodic apnea//familial infantile myasthenia gravis 2//fim//fim - familial infantile myasthenia//fimg2//myasthenic syndrome, congenital, 6, presynaptic//myasthenic syndrome, presynaptic, congenital, associated with episodic apnea//presynaptic congenital myasthenic syndrome 6	CHAT	CHAT	https://raresource.nih.gov/literature/disease/0009689	0009689	254210		C0393929	C535759	choline O-acetyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial infantile myasthenia"	55
Junctional epidermolysis bullosa with pyloric atresia	aplasia cutis congenita with gastrointestinal atresia//carmi syndrome//eb-pa-acc//epidermolysis bullosa junctionalis with pyloric atresia//epidermolysis bullosa, junctional 5b, with pyloric atresia//epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita//epidermolysis bullosa, junctional, with pyloric stenosis//itga6-related epidermolysis bullosa with pyloric atresia//itgb4-related epidermolysis bullosa with pyloric atresia//jeb with pyloric atresia//jeb-pa//junctional epidermolysis bullosa-pyloric atresia syndrome	ITGB4	ITGB4	https://raresource.nih.gov/literature/disease/0009694	0009694	226730	79403	C5676875	C535377	integrin subunit beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Junctional epidermolysis bullosa with pyloric atresia"	35
Ring dermoid of cornea	rdc//ring dermoid syndrome	PITX2	PITX2	https://raresource.nih.gov/literature/disease/0009696	0009696	180550	91481	C1867155	C535684	paired like homeodomain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ring dermoid of cornea"	146
Spondylocostal dysostosis 2, autosomal recessive	mesp2-related spondylocostal dysostosis, autosomal recessive//scdo2//spondylocostal dysostosis type 2//spondylothoracic dysostosis	MESP2	MESP2	https://raresource.nih.gov/literature/disease/0009703	0009703	608681		C1837549		mesoderm posterior bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocostal dysostosis 2, autosomal recessive"	29
Syndromic X-linked intellectual disability Siderius type	intellectual developmental disorder, x-linked, syndromic, siderius type//intellectual developmental disorder, x-linked, syndromic, siderius type, x-linked recessive//intellectual disability syndrome, x-linked, siderius type//mental retardation syndrome, x-linked, siderius type//mrxssd//siderius x-linked intellectual disability syndrome//siderius x-linked mental retardation syndrome//siderius-hamel syndrome//x-linked intellectual disability, siderius type	PHF8	PHF8	https://raresource.nih.gov/literature/disease/0009704	0009704	300263	85287	C1846055	C537333	PHD finger protein 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Siderius type"	1
Epidermolysis bullosa simplex due to plakophilin deficiency	dsp-related ectodermal dysplasia/skin fragility syndrome//ectodermal dysplasia skin fragility syndrome//ectodermal dysplasia-skin fragility syndrome//ectodermal dysplasia/skin fragility syndrome//mcgrath syndrome//pkp1-related ectodermal dysplasia/skin fragility syndrome	PKP1	PKP1	https://raresource.nih.gov/literature/disease/0009705	0009705	604536	158668	C1858302	C536183	plakophilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex due to plakophilin deficiency"	20
Snowflake vitreoretinal degeneration	snowflake retinal degeneration//svd	KCNJ13	KCNJ13	https://raresource.nih.gov/literature/disease/0009706	0009706	193230	91496	C1860405	C536677	potassium inwardly rectifying channel subfamily J member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Snowflake vitreoretinal degeneration"	2062
Familial cylindromatosis	ancell-spiegler cylindromas//ancell-spiegler syndrome//turban tumor//turban tumor syndrome//turban tumour//turban tumour syndrome	CYLD	CYLD	https://raresource.nih.gov/literature/disease/0009707	0009707	132700	211	C1851526	C536611	CYLD lysine 63 deubiquitinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cylindromatosis"	125
Lathosterolosis	sc5d deficiency//sterol c5 desaturase deficiency//sterol c5-desaturase deficiency	SC5D	SC5D	https://raresource.nih.gov/literature/disease/0009711	0009711	607330	46059	C1846421	C537880	sterol-C5-desaturase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lathosterolosis"	203
Griscelli syndrome type 3	griscelli-pruni??ras syndrome type 3//griscelli-prunic)ras syndrome type 3//griscelli-pruniéras syndrome type 3//griscelli-pruni��ras syndrome type 3//gs3//hypopigmentation-immunodeficiency disease type 3	MLPH	MLPH	https://raresource.nih.gov/literature/disease/0009715	0009715	609227	79478	C1836573	C537303	melanophilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Griscelli syndrome type 3"	12
Autosomal dominant nonsyndromic hearing loss 17	autosomal dominant nonsyndromic deafness 17//deafness, autosomal dominant 17//dfna17 nonsyndromic hearing loss and deafness	MYH9	MYH9	https://raresource.nih.gov/literature/disease/0009726	0009726	603622		C1863659		myosin heavy chain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 17"	None
Myotonic dystrophy type 2	cnbp myotonic dystrophy//dm2//myotonic dystrophy caused by mutation in cnbp//myotonic myopathy, proximal//proximal myotonic dystrophy//proximal myotonic myopathy//ricker disease//ricker syndrome	CNBP	CNBP	https://raresource.nih.gov/literature/disease/0009728	0009728	602668	606	C2931689		CCHC-type zinc finger nucleic acid binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myotonic dystrophy type 2"	2432
Danon disease	antopol disease//danon disease, x-linked dominant//glycogen storage disease due to lamp-2 deficiency//glycogen storage disease due to lysosomal associated membrane protein 2 deficiency//glycogen storage disease type iib//glycogenosis due to lamp-2 deficiency//gsd due to lamp-2 deficiency//gsd iib//lamp2 lysosomal glycogen storage disease//lysosomal glycogen storage disease caused by mutation in lamp2//lysosomal glycogen storage disease with normal acid maltase activity//lysosomal glycogen storage disease without acid maltase deficiency//pseudoglycogenosis ii	LAMP2	LAMP2	https://raresource.nih.gov/literature/disease/0009730	0009730	300257	34587	C0878677	D052120	lysosomal associated membrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Danon disease"	313
Epithelial basement membrane dystrophy	anterior basement membrane dystrophy//cogan corneal dystrophy//cogan microcystic epithelial dystrophy//corneal dystrophy, anterior basement membrane//corneal dystrophy, cogan type//corneal dystrophy, epithelial basement membrane//corneal dystrophy, microcystic//corneal epithelial and basement membrane dystrophy//corneal epithelial dystrophy//ebmd//ebmd - epithelial basement membrane dystrophy//map-dot-fingerprint corneal dystrophy//map-dot-fingerprint dystrophy//map-dot-fingerprint dystrophy of cornea//mdf - map dot fingerprint dystrophy//microcystic corneal dystrophy//microcystic dystrophy of the cornea//microscopic cystic corneal dystrophy	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009732	0009732	121820	98956	C0521723	C535477	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epithelial basement membrane dystrophy"	149
Autosomal recessive congenital ichthyosis 4A	arci4a//autosomal recessive congenital ichthyosis type 4a//ichthyosis congenita iib//ichthyosis, congenital, autosomal recessive type 4a//icr2b//lamellar ichthyosis 2//li2	ABCA12	ABCA12	https://raresource.nih.gov/literature/disease/0009733	0009733	601277		C1832550	C537264	ATP binding cassette subfamily A member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 4A"	1
Autosomal recessive congenital ichthyosis 5	arci5//autosomal recessive congenital ichthyosis type 5//autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis//ichthyosis congenita iii//ichthyosis, congenital, autosomal recessive type 5//ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive	CYP4F22	CYP4F22	https://raresource.nih.gov/literature/disease/0009734	0009734	604777		C1858133	C537265	cytochrome P450 family 4 subfamily F member 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 5"	10626
Autosomal dominant lamellar ichthyosis	ichthyosis, lamellar, autosomal dominant	ASPRV1	ASPRV1	https://raresource.nih.gov/literature/disease/0009735	0009735	146750		C0432304	C537263	aspartic peptidase retroviral like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant lamellar ichthyosis"	7
Congenital nonbullous ichthyosiform erythroderma	alligator skin//cie//collodion baby//congenital ichthyosiform erythroderma//congenital ichthyosiform erythroderma (disease)//congenital lamellar ichthyosis//congenital non-bullous ichthyosis//erythrodermic ichthyosis//ichthyosiform erythroderma//ichthyosis lammellaris//ichthyosis, congenital, nonblistering//non-bullous congenital ichthyosiform erythroderma//nonbullous congenital ichthyosiform erythroderma//nonbullous congenital ichthyosis	SULT2B1;NIPAL4;SDR9C7;ALOX12B;TGM1;ABCA12;PNPLA1;CERS3;ALOXE3	SULT2B1;NIPAL4;SDR9C7;ALOX12B;TGM1;ABCA12;PNPLA1;CERS3;ALOXE3	https://raresource.nih.gov/literature/disease/0009736	0009736		79394	C0079154	D017490	sulfotransferase family 2B member 1; NIPA like domain containing 4; short chain dehydrogenase/reductase family 9C member 7; arachidonate 12-lipoxygenase, 12R type; transglutaminase 1; ATP binding cassette subfamily A member 12; patatin like domain 1, omega-hydroxyceramide transacylase ; ceramide synthase 3; arachidonate epidermal lipoxygenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital nonbullous ichthyosiform erythroderma"	693
Epidermolysis bullosa simplex with mottled pigmentation	ebs with mottled pigmentation//ebs-mp//ebs2f//epidermolysis bullosa simplex 2f, with mottled pigmentation//simple epidermolysis bullosa with mottled pigmentation//speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0009737	0009737	131960	79397	C0432316	C535959	keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex with mottled pigmentation"	16
Familial atrial fibrillation	atfb//hereditary atrial fibrillation (disease)	GATA4;SCN4B;NKX2-5;PITX2;GATA5;KCNQ1;GATA6;KCNE2;NPPA;SCN2B;SCN3B;GJA5;KCNJ2;KCNJ5;MYL4;KCNJ3;SCN5A;KCNA5;NUP155	GATA4;SCN4B;NKX2-5;PITX2;GATA5;KCNQ1;GATA6;KCNE2;NPPA;SCN2B;SCN3B;GJA5;KCNJ2;KCNJ5;MYL4;KCNJ3;SCN5A;KCNA5;NUP155	https://raresource.nih.gov/literature/disease/0009740	0009740		334	C3468561		GATA binding protein 4; sodium voltage-gated channel beta subunit 4; NK2 homeobox 5; paired like homeodomain 2; GATA binding protein 5; potassium voltage-gated channel subfamily Q member 1; GATA binding protein 6; potassium voltage-gated channel subfamily E regulatory subunit 2; natriuretic peptide A; sodium voltage-gated channel beta subunit 2; sodium voltage-gated channel beta subunit 3; gap junction protein alpha 5; potassium inwardly rectifying channel subfamily J member 2; potassium inwardly rectifying channel subfamily J member 5; myosin light chain 4; potassium inwardly rectifying channel subfamily J member 3; sodium voltage-gated channel alpha subunit 5; potassium voltage-gated channel subfamily A member 5; nucleoporin 155	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial atrial fibrillation"	126
Aminoacylase 1 deficiency	acy1d//deficiency of aminoacylase 1//n-acyl-l-amino acid amidohydrolase deficiency//neurological conditions associated with aminoacylase 1 deficiency	ACY1	ACY1	https://raresource.nih.gov/literature/disease/0009741	0009741	609924	137754	C1835922	C538246	aminoacylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aminoacylase 1 deficiency"	10
Atrophoderma vermiculatum	acne vermoulante//atrophoderma vermiculata//atrophodermia reticulata symmetrica faciei//atrophodermia vermiculata//ava//folliculitis ulerythematosa reticulata//folliculitis ulerythematosa reticulate//honeycomb atrophy//honeycomb atrophy of face//keratosis pilaris affecting the follicles of the eyebrow hairs//type of genodermatosis//vermiculata atrophoderma	LRP1	LRP1	https://raresource.nih.gov/literature/disease/0009744	0009744	209700	79100	C0263429		LDL receptor related protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrophoderma vermiculatum"	81
Infantile nephropathic cystinosis	cystinosis, infantile nephropathic//nephropathic infantile cystinosis	CTNS	CTNS	https://raresource.nih.gov/literature/disease/0009755	0009755		411629	C3537440		cystinosin, lysosomal cystine transporter	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile nephropathic cystinosis"	96
Ocular cystinosis	adult-onset cystinosis//non-nephropathic cystinosis	CTNS	CTNS	https://raresource.nih.gov/literature/disease/0009756	0009756	219750	411641	C2931013	C535765	cystinosin, lysosomal cystine transporter	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ocular cystinosis"	28
Familial hypocalciuric hypercalcemia 2	familial benign hypercalcemia, type ii//familial hypocalciuric hypercalcemia type 2//fhh type 2//hhc2//hpocalciuric hypercalcemia, type ii//hypocalciuric hypercalcemia type ii//hypocalciuric hypercalcemia, familial, type ii//hypocalciuric hypercalcemia, type ii	GNA11	GNA11	https://raresource.nih.gov/literature/disease/0009758	0009758	145981	101049	C1840347	C537146	G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypocalciuric hypercalcemia 2"	10
Leukonychia totalis	porcelain nails	PLCD1	PLCD1	https://raresource.nih.gov/literature/disease/0009759	0009759		2387	C4551625	C535889	phospholipase C delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukonychia totalis"	1654
Seizures, benign familial neonatal, 1	benign neonatal epilepsy 1//benign neonatal seizures caused by mutation in kcnq2//kcnq2 benign neonatal seizures//kcnq2-related benign familial neonatal epilepsy//seizures, benign familial neonatal, type 1//seizures, benign neonatal, 1	KCNQ2	KCNQ2	https://raresource.nih.gov/literature/disease/0009765	0009765			C3149074	C567743	potassium voltage-gated channel subfamily Q member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures, benign familial neonatal, 1"	None
Dowling-Degos disease	dark dot disease//dowling-degos disease type 1//reticular pigment anomaly of flexures	POGLUT1;POFUT1;PSENEN;KRT5	POGLUT1;POFUT1;PSENEN;KRT5	https://raresource.nih.gov/literature/disease/0009775	0009775		79145	C3714534	C562924	protein O-glucosyltransferase 1; protein O-fucosyltransferase 1; presenilin enhancer, gamma-secretase subunit; keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dowling-Degos disease"	213
Syndromic X-linked intellectual disability Lubs type	distal duplication xq//intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive//intellectual developmental disorder, x-linked, syndromic, lubs type//intellectual disability, x-linked, syndromic, lubs type//intellectual disability, x-linked, with recurrent respiratory infections//lubs x-linked intellectual disability syndrome//lubs x-linked mental retardation syndrome//mecp2 duplication syndrome//mental retardation, x-linked, syndromic, lubs type//mental retardation, x-linked, with recurrent respiratory infections//methyl-cpg (cytosine phosphate guanine) binding protein-2 duplication syndrome//methyl-cytosine phosphate guanine binding protein-2 duplication syndrome//mrxsl//proximal xq28 duplication syndrome//telomeric duplication xq//x-linked intellectual disability syndrome, lubs type//x-linked intellectual disability-hypotonia-recurrent infections syndrome//xq28 (mecp2) duplication	MECP2	MECP2	https://raresource.nih.gov/literature/disease/0009781	0009781	300260	1762	C1846058	C537723	methyl-CpG binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Lubs type"	184
Capillary malformation-arteriovenous malformation 1	cmavm1//parkes weber syndrome//pkws	RASA1	RASA1	https://raresource.nih.gov/literature/disease/0009787	0009787	608354	90307	C4747394		RAS p21 protein activator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Capillary malformation-arteriovenous malformation 1"	142
Epiphyseal dysplasia, multiple, 2	col9a2 multiple epiphyseal dysplasia (disease)//col9a2-related multiple epiphyseal dysplasia//edm2//epiphyseal dysplasia, multiple, type 2//multiple epiphyseal dysplasia (disease) caused by mutation in col9a2	COL9A2	COL9A2	https://raresource.nih.gov/literature/disease/0009791	0009791	600204		C1838429	C535502	collagen type IX alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epiphyseal dysplasia, multiple, 2"	7
Epiphyseal dysplasia, multiple, 3	col9a3 multiple epiphyseal dysplasia (disease)//col9a3-related multiple epiphyseal dysplasia//edm3//epiphyseal dysplasia, multiple, 3, with or without myopathy//epiphyseal dysplasia, multiple, type 3//multiple epiphyseal dysplasia (disease) caused by mutation in col9a3	COL9A3	COL9A3	https://raresource.nih.gov/literature/disease/0009792	0009792	600969		C1832998	C535503	collagen type IX alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epiphyseal dysplasia, multiple, 3"	1
Multiple epiphyseal dysplasia type 4	autosomal recessive multiple epiphyseal dysplasia//edm4//epiphyseal dysplasia, multiple, type 4//med4//multiple epiphyseal dysplasia (disease) caused by mutation in slc26a2//multiple epiphyseal dysplasia with bilayered patellae//multiple epiphyseal dysplasia with clubfoot//multiple epiphyseal dysplasia, autosomal recessive//multiple epiphyseal dysplasia, recessive//polyepiphyseal dysplasia type 4//recessive multiple epiphyseal dysplasia//rmed//slc26a2 multiple epiphyseal dysplasia (disease)	SLC26A2	SLC26A2	https://raresource.nih.gov/literature/disease/0009793	0009793	226900	93307	C1847593	C535504	solute carrier family 26 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia type 4"	23
Multiple epiphyseal dysplasia type 5	bhmed//bilateral hereditary micro-epiphyseal dysplasia//edm5//epiphyseal dysplasia, multiple, type 5//matn3 multiple epiphyseal dysplasia (disease)//med5//microepiphyseal dysplasia, bilateral hereditary//multiple epiphyseal dysplasia (disease) caused by mutation in matn3//multiple epiphyseal dysplasia, matn3-related//polyepiphyseal dysplasia type 5	MATN3	MATN3	https://raresource.nih.gov/literature/disease/0009794	0009794	607078	93311	C1846843	C535505	matrilin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia type 5"	6
Naxos disease	arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant//cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities//keratoderma with woolly hair type i//keratoderma with wooly hair type i//keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome//keratosis palmoplantaris with arrhythmogenic cardiomyopathy//keratosis palmoplantaris with arrythmogenic cardiomyopathy//kwwh type i//mal de naxos//nxd//palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy//palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy//palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair//palmoplantar keratoderma with arrythmogenic cardiomyopathy//woolly hair, palmoplantar keratoderma, and cardiac abnormalities	JUP	JUP	https://raresource.nih.gov/literature/disease/0009795	0009795	601214	34217	C1832600	C538346	junction plakoglobin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Naxos disease"	82
Autoimmune lymphoproliferative syndrome type 2B	alps with recurrent viral infections//alps2b//autoimmune lymphoproliferative syndrome caused by mutation in casp8//autoimmune lymphoproliferative syndrome type iib//autoimmune lymphoproliferative syndrome with recurrent viral infection//autoimmune lymphoproliferative syndrome with recurrent viral infections//autoimmune lymphoproliferative syndrome, type iib//casp8 autoimmune lymphoproliferative syndrome//caspase 8 deficiency//caspase 8 deficiency syndrome//caspase eight deficiency state//ceds	CASP8	CASP8	https://raresource.nih.gov/literature/disease/0009796	0009796	607271	275517	C1846545		caspase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome type 2B"	106
Auriculocondylar syndrome	dysgnathia complex//question mark ear syndrome//question mark ears syndrome//question-mark ear syndrome	GNAI3;EDN1;PLCB4	GNAI3;EDN1;PLCB4	https://raresource.nih.gov/literature/disease/0009798	0009798		137888	C1865295	C538270	G protein subunit alpha i3; endothelin 1; phospholipase C beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome"	33
Progressive familial intrahepatic cholestasis type 1	atp8b1-related intrahepatic cholestasis//byler disease//byler syndrome//byler's disease//cholestasis, progressive familial intrahepatic 1//cholestasis, progressive familial intrahepatic, type 1//fic1 deficiency//pfic1//pfic1 - progressive familial intrahepatic cholestasis type 1	ATP8B1	ATP8B1	https://raresource.nih.gov/literature/disease/0009802	0009802	211600	79306	C4551898		ATPase phospholipid transporting 8B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial intrahepatic cholestasis type 1"	187
Cholestasis, progressive familial intrahepatic, 4	cholestasis, progressive familial intrahepatic, type 4//pfic4//pfic4 - progressive familial intrahepatic cholestasis type 4//progressive familial intrahepatic cholestasis caused by mutation in tjp2//progressive familial intrahepatic cholestasis type 4//progressive familial intrahepatic cholestasis type iv//tjp2 deficit//tjp2 progressive familial intrahepatic cholestasis	TJP2	TJP2	https://raresource.nih.gov/literature/disease/0009803	0009803	615878	480483	C2931067		tight junction protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 4"	10
Autosomal dominant vibratory urticaria	ddu//dermodistortive urticaria//vbu//vibratory urticaria//vibratory urticaria, autosomal dominant	ADGRE2	ADGRE2	https://raresource.nih.gov/literature/disease/0009806	0009806	125630	493342	CN313132	C536347	adhesion G protein-coupled receptor E2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant vibratory urticaria"	20
T-cell large granular lymphocyte leukemia	large cell granular lymphogenous leukaemia//large cell granular lymphogenous leukemia//large cell granular lymphoid leukaemia//large cell granular lymphoid leukemia//large granular lymphocytic leukaemia//large granular lymphocytic leukemia//large granular lymphocytosis//leukemia, large granular lymphocytic, malignant//lgll//proliferation of large granular lymphocytes//t gamma lymphoproliferative disorder//t-cell large gran. lymph. leuk.//t-cell large granular lymphocytic leukaemia//t-cell large granular lymphocytic leukemia//t-cell large granular lymphocytosis//t-cell lgl leukaemia//t-cell lgl leukemia//t-gamma lymphoproliferative disease//t-gamma lymphoproliferative disorder//t-lgl//t-lgl leukaemia//t-lgl leukemia//tgamma large granular lymphocyte leukaemia//tgamma large granular lymphocyte leukemia	STAT3	STAT3	https://raresource.nih.gov/literature/disease/0009812	0009812		86872	C1955861		signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-cell large granular lymphocyte leukemia"	754
Congenital bile acid synthesis defect 1	3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency//3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency//3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1//basd1//bile acid synthesis defect, congenital, type 1//cbas1//congenital bile acid synthesis defect caused by mutation in hsd3b7//congenital bile acid synthesis defect type 1//hsd3b7 congenital bile acid synthesis defect	HSD3B7	HSD3B7	https://raresource.nih.gov/literature/disease/0009813	0009813	607765	79301	C1843116	C535442	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect 1"	4
Dystonia 5	autosomal dominant dopa responsive dystonia//autosomal dominant segawa syndrome//dopa-responsive dystonia, autosomal dominant//drd//dystonia type 5//dystonia, dopa-responsive, autosomal dominant//dystonia, dopa-responsive, with or without hyperphenylalaninemia//dystonia, progressive, with diurnal variation//dystonia-parkinsonism with diurnal fluctuation//dyt-gch1//gtp cyclohydrolase 1-deficient dopa-responsive dystonia//hereditary progressive dystonia with marked diurnal fluctuation//segawa syndrome//segawa syndrome, autosomal dominant	GCH1	GCH1	https://raresource.nih.gov/literature/disease/0009817	0009817	128230		C1851920		GTP cyclohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 5"	402
Developmental malformations-deafness-dystonia syndrome	dds1//developmental malformations-hearing loss-dystonia syndrome//juvenile-onset dystonia	ACTB	ACTB	https://raresource.nih.gov/literature/disease/0009818	0009818	607371	79107	C5848323	C537704	actin beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental malformations-deafness-dystonia syndrome"	4
PMM2-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type ia//carbohydrate-deficient glycoprotein syndrome, type ia//cdg - carbohydrate-deficient glycoprotein syndrome type i//cdg 1a//cdg ia//cdg syndrome type ia//cdg-ia//cdg1a//congenital disorder of glycosylation type 1a//congenital disorder of glycosylation type ia//congenital disorder of glycosylation, type ia//jaeken syndrome//phosphomannomutase 2 deficiency//pmm2-cdg//pmm2-cdg (cdg-ia)	PMM2	PMM2	https://raresource.nih.gov/literature/disease/0009826	0009826	212065	79318	C0349653	C535739	phosphomannomutase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PMM2-congenital disorder of glycosylation"	296
ALG3-congenital disorder of glycosylation	alg3-cdg//alg3-cdg (cdg-id)//alg3-cdg - asparagine-linked glycosylation 3 congenital disorder of glycosylation//asparagine-linked glycosylation 3 congenital disorder of glycosylation//carbohydrate deficient glycoprotein syndrome type id//carbohydrate-deficient glycoprotein syndrome, type iv//cdg id//cdg syndrome type id//cdg-id//cdg1d//cdgid//cdgs, type iv//congenital disorder of glycosylation type 1d//congenital disorder of glycosylation type id//congenital disorder of glycosylation, type id//mannosyltransferase 6 deficiency	ALG3	ALG3	https://raresource.nih.gov/literature/disease/0009827	0009827	601110	79321	C1832736	C535742	ALG3 alpha-1,3- mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG3-congenital disorder of glycosylation"	18
MGAT2-congenital disorder of glycosylation	alkuraya syndrome//carbohydrate deficient glycoprotein syndrome type 2a//carbohydrate deficient glycoprotein syndrome type iia//carbohydrate-deficient glycoprotein syndrome type ii//cdg - carbohydrate-deficient glycoprotein syndrome type ii//cdg iia//cdg syndrome type iia//cdg-iia//cdg2a//congenital disorder of glycosylation type 2a//congenital disorder of glycosylation type iia//congenital disorder of glycosylation, type iia//mental retardation, growth retardation, prominent columella, and open mouth//mgat2-cdg//mgat2-cdg (cdg-iia)//mgat2-cdg - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation//n-acetylglucosaminyl transferase ii deficiency//n-acetylglucosaminyltransferase 2 deficiency	MGAT2	MGAT2	https://raresource.nih.gov/literature/disease/0009828	0009828	212066	79329	C2931008	C535752	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MGAT2-congenital disorder of glycosylation"	9
ALG6-congenital disorder of glycosylation 1C	alg6 congenital disorder of glycosylation//alg6-cdg//alg6-cdg (cdg-ic)//alg6-cdg1c//carbohydrate deficient glycoprotein syndrome type 1c//carbohydrate deficient glycoprotein syndrome type ic//carbohydrate deficient glycoprotein syndrome type v//carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide//carbohydrate-deficient glycoprotein syndrome, type v//cdg ic//cdg syndrome type ic//cdg-ic//cdg1c//cdgic//congenital disorder of glycosylation caused by mutation in alg6//congenital disorder of glycosylation type 1c//congenital disorder of glycosylation type ic//congenital disorder of glycosylation, type ic//glucosyltransferase 1 deficiency	ALG6	ALG6	https://raresource.nih.gov/literature/disease/0009829	0009829	603147	79320	C2930997	C535741	ALG6 alpha-1,3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG6-congenital disorder of glycosylation 1C"	19
MPI-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type ib//cdg ib//cdg syndrome type ib//cdg-ib//cdg1b//congenital disorder of glycosylation type 1b//congenital disorder of glycosylation type ib//congenital disorder of glycosylation, type ib//mannose-6-phosphate isomerase congenital disorder of glycosylation//mannosephosphate isomerase congenital disorder of glycosylation//mannosephosphate isomerase deficiency//mpi deficiency//mpi-cdg//mpi-cdg (cdg-ib)//mpi-cdg - mannosephosphate isomerase congenital disorder of glycosylation//phosphomannose isomerase deficiency//protein-losing enteropathy-hepatic fibrosis syndrome	MPI	MPI	https://raresource.nih.gov/literature/disease/0009830	0009830	602579	79319	C1865145	C535740	mannose phosphate isomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MPI-congenital disorder of glycosylation"	50
Congenital disorder of glycosylation type 1E	carbohydrate deficient glycoprotein syndrome type ie//cdg ie//cdg syndrome type ie//cdg-ie//cdg1e//cdgie//congenital disorder of glycosylation caused by mutation in dpm1//congenital disorder of glycosylation type ie//congenital disorder of glycosylation, type ie//dol-p-mannosyltransferase deficiency//dolichol-phosphate-mannose synthase 1 deficiency//dpm1 congenital disorder of glycosylation//dpm1-cdg//dpm1-cdg - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation	DPM1	DPM1	https://raresource.nih.gov/literature/disease/0009831	0009831	608799	79322	C1837396	C535743	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation type 1E"	8
MPDU1-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type if//cdg if//cdg syndrome type if//cdg-if//cdg1f//cdgif//congenital disorder of glycosylation type 1f//congenital disorder of glycosylation type if//congenital disorder of glycosylation, type if//mannose-p-dolichol utilization defect 1//mpdu1-cdg//mpdu1-cdg (cdg-if)//mpdu1-cdg - mannose-p-dolichol utilization defect 1 - congenital disorder of glycosylation	MPDU1	MPDU1	https://raresource.nih.gov/literature/disease/0009832	0009832	609180	79323	C1836669	C535744	mannose-P-dolichol utilization defect 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MPDU1-congenital disorder of glycosylation"	3
ALG12-congenital disorder of glycosylation	alg12-cdg//carbohydrate deficient glycoprotein syndrome type ig//cdg ig//cdg syndrome type ig//cdg-ig//cdg1g//cdgig//congenital disorder of glycosylation type 1g//congenital disorder of glycosylation type ig//congenital disorder of glycosylation, type ig//mannosyltransferase 8 deficiency	ALG12	ALG12	https://raresource.nih.gov/literature/disease/0009833	0009833	607143	79324	C2931001	C535745	ALG12 alpha-1,6-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG12-congenital disorder of glycosylation"	14
ALG8 congenital disorder of glycosylation	alg8-cdg//alg8-cdg (cdg-ih)//alg8-cdg - asparagine-linked glycosylation 8 congenital disorder of glycosylation//asparagine-linked glycosylation 8 congenital disorder of glycosylation//carbohydrate deficient glycoprotein syndrome type ih//cdg ih//cdg syndrome type ih//cdg-ih//cdg1h//congenital disorder of glycosylation type 1h//congenital disorder of glycosylation type ih//congenital disorder of glycosylation, type ih//glucosyltransferase 2 deficiency	ALG8	ALG8	https://raresource.nih.gov/literature/disease/0009834	0009834	608104	79325	C2931002	C535746	ALG8 alpha-1,3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG8 congenital disorder of glycosylation"	10
ALG2-congenital disorder of glycosylation	alg2-cdg//carbohydrate deficient glycoprotein syndrome type ii//cdg 1i//cdg ii//cdg syndrome type ii//cdg-ii//cdg1i//congenital disorder of glycosylation type 1i//congenital disorder of glycosylation, type ii//mannosyltransferase 2 deficiency	ALG2	ALG2	https://raresource.nih.gov/literature/disease/0009836	0009836	607906	79326	C1842836		ALG2 alpha-1,3/1,6-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG2-congenital disorder of glycosylation"	25
DPAGT1-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type ij//cdg ij//cdg syndrome type ij//cdg-ij//cdg1j//cdgij//congenital disorder of glycosylation type 1j//congenital disorder of glycosylation type ij//congenital disorder of glycosylation, type ij//dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency//dpagt1-cdg//dpagt1-cdg (cdg-ij)//dpagt1-cdg - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation	DPAGT1	DPAGT1	https://raresource.nih.gov/literature/disease/0009837	0009837	608093	86309	C2931004	C535748	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DPAGT1-congenital disorder of glycosylation"	11
ALG1-congenital disorder of glycosylation	alg1-cdg//alg1-cdg (cdg-ik)//alg1-cdg - asparagine-linked glycosylation 1 congenital disorder of glycosylation//asparagine-linked glycosylation 1 congenital disorder of glycosylation//carbohydrate deficient glycoprotein syndrome type ik//cdg ik//cdg syndrome type ik//cdg-ik//cdg1k//congenital disorder of glycosylation type 1k//congenital disorder of glycosylation type ik//congenital disorder of glycosylation, type ik//mannosyltransferase 1 deficiency	ALG1	ALG1	https://raresource.nih.gov/literature/disease/0009838	0009838	608540	79327	C2931005	C535749	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG1-congenital disorder of glycosylation"	16
ALG9 congenital disorder of glycosylation	alg9-cdg//alg9-cdg (cdg-il)//alg9-cdg - asparagine-linked glycosylation 9 congenital disorder of glycosylation//asparagine-linked glycosylation 9 congenital disorder of glycosylation//carbohydrate deficient glycoprotein syndrome type 1l//carbohydrate deficient glycoprotein syndrome type il//cdg il//cdg syndrome type il//cdg-il//cdg1l//congenital disorder of glycosylation type 1l//congenital disorder of glycosylation type il//congenital disorder of glycosylation, type il//mannosyltransferase 7-9 deficiency	ALG9	ALG9	https://raresource.nih.gov/literature/disease/0009839	0009839	608776	79328	C2931006	C535750	ALG9 alpha-1,2-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG9 congenital disorder of glycosylation"	7
B4GALT1-congenital disorder of glycosylation	b4galt1-cdg//b4galt1-cdg (cdg-iid)//b4galt1-cdg - beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation//beta-1,4-galactosyltransferase deficiency//carbohydrate deficient glycoprotein syndrome type 2d//carbohydrate deficient glycoprotein syndrome type iid//cdg iid//cdg syndrome type iid//cdg-iid//cdg2d//congenital disorder of glycosylation type 2d//congenital disorder of glycosylation type iid//congenital disorder of glycosylation, type iid	B4GALT1	B4GALT1	https://raresource.nih.gov/literature/disease/0009841	0009841	607091	79332	C2931009	C535753	beta-1,4-galactosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B4GALT1-congenital disorder of glycosylation"	70
COG7 congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type iie//cdg iie//cdg syndrome type iie//cdg-iie//cdg2e//cog7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation//cog7-cdg//cog7-cdg (cdg-iie)//component of oligomeric golgi complex 7 congenital disorder of glycosylation//congenital disorder of glycosylation type 2e//congenital disorder of glycosylation type iie//congenital disorder of glycosylation, type iie	COG7	COG7	https://raresource.nih.gov/literature/disease/0009842	0009842	608779	79333	C2931010	C535754	component of oligomeric golgi complex 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG7 congenital disorder of glycosylation"	3
Primary familial polycythemia due to EPO receptor mutation	congenital erythrocytosis due to erythropoietin receptor mutation//congenital polycythemia due to erythropoietin receptor mutation//epor familial polycythemia//erythrocytosis, familial, 1//erythrocytosis, familial, type 1//erythrocytosis, somatic//familial erythrocytosis 1//familial erythrocytosis type 1//familial erythrocytosis, 1//familial polycythemia caused by mutation in epor//pfcp//polycythemia, primary familial and congenital//primary congenital erythrocytosis//primary familial and congenital polycythemia//primary familial congenital polycythemia//primary familial polycythemia	JAK2;SH2B3;EPOR	JAK2;SH2B3;EPOR	https://raresource.nih.gov/literature/disease/0009843	0009843	133100	90042	C4551637		Janus kinase 2; SH2B adaptor protein 3; erythropoietin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary familial polycythemia due to EPO receptor mutation"	29
Microcephalic osteodysplastic primordial dwarfism type II	majewski osteodysplastic primordial dwarfism type ii//microcephalic osteodysplastic primordial dwarfism with tooth abnormalities//mopd (microcephalic osteodysplastic primordial dwarfism) type ii//mopd ii//mopd type ii//mopd2//osteodysplastic primordial dwarfism type ii//osteodysplastic primordial dwarfism, type ii	PCNT	PCNT	https://raresource.nih.gov/literature/disease/0009844	0009844	210720	2637	C0432246	C565898	pericentrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic osteodysplastic primordial dwarfism type II"	95
Heart-hand syndrome, Slovenian type	atriodigital dysplasia slovenian type//atriodigital dysplasia, slovenian type//cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome//cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0009846	0009846	610140	168796	C1857829	C535852	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heart-hand syndrome, Slovenian type"	None
Congenital brain dysgenesis due to glutamine synthetase deficiency	glnd//glutamine synthase deficiency, congenital systemic//inherited glutamine synthetase deficiency//inherited gs deficiency	GLUL	GLUL	https://raresource.nih.gov/literature/disease/0009848	0009848	610015	71278	C1864910	C536832	glutamate-ammonia ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital brain dysgenesis due to glutamine synthetase deficiency"	1
Goldberg-Shprintzen syndrome	goldberg shprintzen megacolon syndrome//goldberg-shprintzen megacolon syndrome//goshs//megacolon microcephaly syndrome//megacolon-microcephaly syndrome	KIFBP	KIFBP	https://raresource.nih.gov/literature/disease/0009849	0009849	609460	66629	C1836123	C537279	kinesin family binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Goldberg-Shprintzen syndrome"	27
Inflammatory bowel disease 1	crohn disease-associated growth failure//ibd1//inflammatory bowel disease (crohn disease) 1//inflammatory bowel disease 1, crohn disease//inflammatory bowel disease caused by mutation in nod2//inflammatory bowel disease type 1//nod2 inflammatory bowel disease	NOD2;IL6	NOD2;IL6	https://raresource.nih.gov/literature/disease/0009857	0009857	266600		CN260071		nucleotide binding oligomerization domain containing 2; interleukin 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory bowel disease 1"	None
Spondyloepimetaphyseal dysplasia with multiple dislocations	semd-md//semdjl2//spondyloepimetaphyseal dysplasia with joint laxicity, hall type//spondyloepimetaphyseal dysplasia with joint laxity hall type//spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type//spondyloepimetaphyseal dysplasia with joint laxity type 2//spondyloepimetaphyseal dysplasia with joint laxity, hall type//spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type//spondyloepimetaphyseal dysplasia with joint laxity, type 2//spondyloepimetaphyseal dysplasia with multiple dislocations hall type//spondyloepimetaphyseal dysplasia with multiple dislocations, hall type	KIF22	KIF22	https://raresource.nih.gov/literature/disease/0009866	0009866	603546	93360	C1863732	C535784	kinesin family member 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia with multiple dislocations"	5
Spinocerebellar ataxia type 14	sca14	PRKCG	PRKCG	https://raresource.nih.gov/literature/disease/0009867	0009867	605361	98763	C1854369	C537196	protein kinase C gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 14"	77
Hyperinsulinemic hypoglycemia, familial, 4	hadh hyperinsulinemic hypoglycemia (disease)//hadh-related hyperinsulinism//hhf4//hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh//hyperinsulinemic hypoglycemia due to hadh deficiency//hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency//hyperinsulinemic hypoglycemia, familial, type 4//hyperinsulinism due to glutamodehydrogenase deficiency//hyperinsulinism due to schad deficiency//hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency//schad deficiency	HADH	HADH	https://raresource.nih.gov/literature/disease/0009870	0009870	609975	71212	C1864948	C566493	hydroxyacyl-CoA dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinemic hypoglycemia, familial, 4"	8
Lateral meningocele syndrome	lehman syndrome//lmns	NOTCH3	NOTCH3	https://raresource.nih.gov/literature/disease/0009873	0009873	130720	2789	C1851710	C537878	notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lateral meningocele syndrome"	52
Amyotrophic lateral sclerosis type 6	als6//als6 - amyotrophic lateral sclerosis type 6//amyotrophic lateral sclerosis 6 without frontotemporal dementia//amyotrophic lateral sclerosis 6, with or without frontotemporal dementia//amyotrophic lateral sclerosis caused by mutation in fus//autosomal recessive amyotrophic lateral sclerosis 6//fus amyotrophic lateral sclerosis//fus-related amyotrophic lateral sclerosis//fus-related amyotrophic laterial sclerosis	FUS	FUS	https://raresource.nih.gov/literature/disease/0009874	0009874	608030		C2931786	C567699	FUS RNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 6"	15
Aortic aneurysm, familial thoracic 4	aat4//aortic aneurysm, familial thoracic type 4//aortic aneurysm/aortic dissection and patent ductus arteriosus//familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11//myh11 familial thoracic aortic aneurysm and aortic dissection//myh11-related thoracic aortic aneurysms and aortic dissections	MYH11	MYH11	https://raresource.nih.gov/literature/disease/0009876	0009876	132900		C1851504	C537784	myosin heavy chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 4"	None
Acromesomelic dysplasia 2B	aplasia of fibula co-occurrent with complex brachydactyly//du pan syndrome//fibular aplasia and complex brachydactyly//fibular aplasia-complex brachydactyly syndrome//fibular hypoplasia and complex brachydactyly	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0009879	0009879	228900	2639	C1856738	C537931	growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromesomelic dysplasia 2B"	9
Cortisone reductase deficiency	11-beta-hydroxysteroid dehydrogenase deficiency type 1//cortrd//crd//deficiency of (r)-20-hydroxysteroid dehydrogenase//deficiency of cortisone reductase//hyperandrogenism due to cortisone reductase deficiency	HSD11B1;H6PD	HSD11B1;H6PD	https://raresource.nih.gov/literature/disease/0009882	0009882		168588	C1291245	C536447	hydroxysteroid 11-beta dehydrogenase 1; hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cortisone reductase deficiency"	945
Juvenile myelomonocytic leukemia	jcml//jcml - juvenile chronic myeloid leukemia//jmml//juvenile chronic myelogenous leukaemia//juvenile chronic myelogenous leukemia//juvenile chronic myeloid leukaemia//juvenile chronic myeloid leukemia//juvenile chronic myelomonocytic leukaemia//juvenile chronic myelomonocytic leukemia//juvenile myelomonocytic leukaemia//juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation//leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation//leukemia, juvenile myelomonocytic, somatic	ARHGAP26;NF1;PTPN11	ARHGAP26;NF1;PTPN11	https://raresource.nih.gov/literature/disease/0009884	0009884	607785	86834	C0349639	D054429	Rho GTPase activating protein 26; neurofibromin 1; protein tyrosine phosphatase non-receptor type 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile myelomonocytic leukemia"	990
Noonan syndrome 3	kras gene related noonan syndrome//kras noonan syndrome//kras-related noonan syndrome//noonan syndrome caused by mutation in kras//noonan syndrome type 3//ns3	KRAS	KRAS	https://raresource.nih.gov/literature/disease/0009885	0009885	609942		C1860991	C537847	KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 3"	88
Ichthyosis prematurity syndrome	congenital ichthyosis type 4//ichthyosis congenita iv//idiopathic pneumonia syndrome//ips	SLC27A4	SLC27A4	https://raresource.nih.gov/literature/disease/0009886	0009886	608649	88621	C1837610	C536271	solute carrier family 27 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis prematurity syndrome"	559
Benign concentric annular macular dystrophy	retinitis pigmentosa 91	IMPG1	IMPG1	https://raresource.nih.gov/literature/disease/0009887	0009887	153870	251287	C5561925	C537833	interphotoreceptor matrix proteoglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign concentric annular macular dystrophy"	14
Pyruvate dehydrogenase phosphatase deficiency	lactic acidemia with pyruvate dehydrogenase phosphatase deficiency//pdh phosphatase deficiency//pdhpd	PDP1	PDP1	https://raresource.nih.gov/literature/disease/0009888	0009888	608782	79246	C1837429	C536258	pyruvate dehydrogenase phosphatase catalytic subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase phosphatase deficiency"	6
Autosomal dominant optic atrophy classic form	autosomal dominant optic atrophy kjer type//autosomal dominant optic atrophy, kjer type//kjer optic atrophy//kjer-type optic atrophy//opa1//optic atrophy type 1//optic atrophy, juvenile	OPA1	OPA1	https://raresource.nih.gov/literature/disease/0009890	0009890	165500	98673	C0338508	D029241	OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant optic atrophy classic form"	22
Cataract 18	autosomal recessive congenital cataract 2//cataract (disease) caused by mutation in fyco1//cataract 18 autosomal recessive//cataract 18, autosomal recessive//cataract type 18//catc2//ctrct18//fyco1 cataract (disease)	FYCO1	FYCO1	https://raresource.nih.gov/literature/disease/0009892	0009892	610019		C1864908	C535337	FYVE and coiled-coil domain autophagy adaptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 18"	None
Congenital myasthenic syndrome 2A	cms2a//congenital myasthenic syndrome 2a slow-channel//congenital myasthenic syndrome type 2a//myasthenic syndrome, congenital, 2a, slow-channel	CHRNB1	CHRNB1	https://raresource.nih.gov/literature/disease/0009895	0009895	616313		C4225374		cholinergic receptor nicotinic beta 1 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 2A"	39
Posterior column ataxia-retinitis pigmentosa syndrome	ataxia, posterior column, with retinitis pigmentosa//autosomal recessive posterior column ataxia and retinitis pigmentosa//pcarp//posterior column ataxia with retinitis pigmentosa syndrome//retinopathy-sensory neuropathy syndrome//retsns	FLVCR1	FLVCR1	https://raresource.nih.gov/literature/disease/0009898	0009898	609033	88628	C1836916	C536343	FLVCR choline and heme transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior column ataxia-retinitis pigmentosa syndrome"	17
Telangiectasia, hereditary hemorrhagic, type 2	acvrl1 hereditary hemorrhagic telangiectasia//acvrl1-related hereditary hemorrhagic telangiectasia//hereditary hemorrhagic telangiectasia caused by mutation in acvrl1//hht2//telangiectasia, hereditary hemorrhagic, type ii	ACVRL1	ACVRL1	https://raresource.nih.gov/literature/disease/0009901	0009901	600376		C1838163		activin A receptor like type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia, hereditary hemorrhagic, type 2"	59
Polysyndactyly 4	polydactyly, preaxial type 4//polydactyly, preaxial, type iv//polysyndactyly uncomplicated//ppd4//preaxial polydactyly 4//preaxial polydactyly type 4//preaxial polydactyly type iv	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0009903	0009903	174700	93338	C1868111		GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polysyndactyly 4"	13
Distal arthrogryposis type 2B1	arthrogryposis multiplex congenita distal type ii with craniofacial abnormalities//arthrogryposis, distal, type 2b1//da2b1//tnni2-related arthrogryposis multiplex congenita, distal, type 2b	TNNI2	TNNI2	https://raresource.nih.gov/literature/disease/0009909	0009909	601680		C5193014		troponin I2, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal arthrogryposis type 2B1"	None
Lethal acantholytic epidermolysis bullosa	ebla//laeb//lethal acantholytic erosive disorder	DSP	DSP	https://raresource.nih.gov/literature/disease/0009910	0009910	609638	158687	C1864826	C535493	desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal acantholytic epidermolysis bullosa"	6
Lennox-Gastaut syndrome	epileptic encephalopathy lennox-gastaut type//lennox syndrome//lgs	GABRB3;DNM1;CHD2;SCN1A;CACNA1A;CUX2	GABRB3;DNM1;CHD2;SCN1A;CACNA1A;CUX2	https://raresource.nih.gov/literature/disease/0009912	0009912	606369	2382	C0238111	D065768	gamma-aminobutyric acid type A receptor subunit beta3; dynamin 1; chromodomain helicase DNA binding protein 2; sodium voltage-gated channel alpha subunit 1; calcium voltage-gated channel subunit alpha1 A; cut like homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lennox-Gastaut syndrome"	1879
Glomerulopathy with fibronectin deposits 2	fibronectin glomerulopathy caused by mutation in fn1//fn1 fibronectin glomerulopathy//gfnd2//glomerulopathy with fibronectin deposits type 2	FN1	FN1	https://raresource.nih.gov/literature/disease/0009914	0009914	601894		C1866075		fibronectin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glomerulopathy with fibronectin deposits 2"	None
Leucine-induced hypoglycemia	hypoglycemia of infancy, leucine-sensitive//hypoglycemia, leucine-induced//leucine-sensitive hypoglycemia of infancy//lih	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0009915	0009915	240800		C0271714	C537150	ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leucine-induced hypoglycemia"	42
Multiple synostoses syndrome 2	gdf5 multiple synostoses syndrome//multiple synostoses syndrome caused by mutation in gdf5//multiple synostoses syndrome type 2//syns2	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0009916	0009916	610017		C1832708	C537380	growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple synostoses syndrome 2"	4
Mitochondrial neurogastrointestinal encephalomyopathy	mitochondrial neurogastrointestinal encephalomyopathy syndrome//mitochondrial neurogastrointestinal encephalopathy//mitochondrial neurogastrointestinal encephalopathy syndrome//mitochondrial neurogastrointestingal encephalopathy//mngie//mngie syndrome//thymidine phosphorylase deficiency	RRM2B;POLG;LIG3;TYMP	RRM2B;POLG;LIG3;TYMP	https://raresource.nih.gov/literature/disease/0009920	0009920		298	C0872218	C537477	ribonucleotide reductase regulatory TP53 inducible subunit M2B; DNA polymerase gamma, catalytic subunit; DNA ligase 3; thymidine phosphorylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial neurogastrointestinal encephalomyopathy"	337
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	brain-bone-fat disease//dementia, prefrontal, with bone cysts//dementia, progressive, with lipomembranous polycystic osteodysplasia//nasu-hakola disease//nhd//plo-sl//plosl//plosl - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy//polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy//polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (plosl)//presenile dementia with bone cysts//progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease	TREM2;TYROBP	TREM2;TYROBP	https://raresource.nih.gov/literature/disease/0009921	0009921		2770	C1857316		triggering receptor expressed on myeloid cells 2; transmembrane immune signaling adaptor TYROBP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"	254
Familial hemophagocytic lymphohistiocytosis 2	familial hemophagocytic lymphohistiocytosis type 2//fhl2//genetic hemophagocytic lymphohistiocytosis caused by mutation in prf1//hemophagocytic lymphohistiocytosis, familial, type 2//hlh2//hplh2//prf1 genetic hemophagocytic lymphohistiocytosis	PRF1	PRF1	https://raresource.nih.gov/literature/disease/0009922	0009922	603553		C1863727	C537250	perforin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hemophagocytic lymphohistiocytosis 2"	55
Hyperinsulinemic hypoglycemia, familial, 2	hyperinsulinemic hypoglycemia (disease) caused by mutation in kcnj11//hyperinsulinemic hypoglycemia due to kir6.2 deficiency//hyperinsulinemic hypoglycemia, familial, type 2//hyperinsulinemic hypoglycemia, persistent//hyperinsulinism, neonatal//kcnj11 hyperinsulinemic hypoglycemia (disease)//kcnj11-related hyperinsulinism	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0009927	0009927	601820		C2931833		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinemic hypoglycemia, familial, 2"	2913
Familial hemophagocytic lymphohistiocytosis 3	familial hemophagocytic lymphohistiocytosis type 3//fhl3//genetic hemophagocytic lymphohistiocytosis caused by mutation in unc13d//hemophagocytic lymphohistiocytosis, familial, type 3//hlh3//hplh3//unc13d genetic hemophagocytic lymphohistiocytosis	UNC13D	UNC13D	https://raresource.nih.gov/literature/disease/0009928	0009928	608898		C1837174	C537251	unc-13 homolog D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hemophagocytic lymphohistiocytosis 3"	54
Familial hemophagocytic lymphohistiocytosis 4	familial hemophagocytic lymphohistiocytosis type 4//fhl4//genetic hemophagocytic lymphohistiocytosis caused by mutation in stx11//hemophagocytic lymphohistiocytosis, familial, type 4//hlh4//hplh4//stx11 genetic hemophagocytic lymphohistiocytosis	STX11	STX11	https://raresource.nih.gov/literature/disease/0009929	0009929	603552		C1863728	C537252	syntaxin 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hemophagocytic lymphohistiocytosis 4"	11
Hyperinsulinism-hyperammonemia syndrome	gdh hyperinsulinism//glud1 hyperinsulinism//glud1 related hyperinsulinism and hyperammonemia syndrome//glud1-related hyperinsulinism//glutamate dehydrogenase 1 hyperinsulinism//glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome//hhf6//hi/ha syndrome//hyperinsulinemic hypoglycemia, familial, type 6//hyperinsulinism and hyperammonemia syndrome	GLUD1	GLUD1	https://raresource.nih.gov/literature/disease/0009931	0009931	606762	35878	C1847555	C538375	glutamate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism-hyperammonemia syndrome"	74
Exercise-induced hyperinsulinism	eihi//exercise-induced hyperinsulinemic hypoglycemia//hhf7//hyperinsulinemic hypoglycemia, familial, type 7//hyperinsulinism due to monocarboxylate transporter 1 deficiency//hyperinsulinism due to slc16a1 deficiency//mct1 hyperinsulinism//monocarboxylate transporter 1 hyperinsulinism	SLC16A1	SLC16A1	https://raresource.nih.gov/literature/disease/0009932	0009932	610021	165991	C1864902	C538376	solute carrier family 16 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exercise-induced hyperinsulinism"	7
Autosomal dominant nonsyndromic hearing loss 3A		GJB2	GJB2	https://raresource.nih.gov/literature/disease/0009933	0009933	601544		C2675750	C567277	gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 3A"	None
Ectodermal dysplasia and immune deficiency	anhidrotic ectodermal dysplasia with immune deficiency//anhidrotic ectodermal dysplasia with immunodeficiency//eda-id//hed-id//hypohidrotic ectodermal dysplasia with immune deficiency//hypohidrotic ectodermal dysplasia with immunodeficiency	NFKBIA;IKBKG	NFKBIA;IKBKG	https://raresource.nih.gov/literature/disease/0009936	0009936		98813	C1846006	C536181	NFKB inhibitor alpha; inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia and immune deficiency"	44
Myopia 6	myopia (disease) caused by mutation in sco2//myopia type 6//myp6//sco2 myopia (disease)	SCO2	SCO2	https://raresource.nih.gov/literature/disease/0009937	0009937	608908		C1837148	C536105	synthesis of cytochrome C oxidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopia 6"	None
CEDNIK syndrome	cednik (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome//cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome//cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma//cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome//cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome//cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	SNAP29	SNAP29	https://raresource.nih.gov/literature/disease/0009940	0009940	609528	66631	C1836033	C537943	synaptosome associated protein 29	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CEDNIK syndrome"	22
Facioscapulohumeral muscular dystrophy	facioscapulohumeral dystrophy//facioscapulohumeral myopathy//fascioscapulohumeral muscular dystrophy//fmd - facioscapulohumeral muscular dystrophy//fsh - facioscapulohumeral muscular dystrophy//fsh dystrophy//fshd//fshd - facioscapulohumeral muscular dystrophy//fshmd1a//landouzy-dejerine dystrophy//landouzy-dejerine muscular dystrophy//landouzy-dejerine myopathy//landouzy-déjérine muscular dystrophy	SMCHD1	SMCHD1	https://raresource.nih.gov/literature/disease/0009941	0009941		269	C0238288	D020391	structural maintenance of chromosomes flexible hinge domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facioscapulohumeral muscular dystrophy"	1792
Amelogenesis imperfecta type 1E	aih1//amelogenesis imperfecta caused by mutation in amelx//amelogenesis imperfecta hypomaturationtype with snow-capped teeth//amelogenesis imperfecta type ie//amelogenesis imperfecta x-linked 1//amelogenesis imperfecta, hypomaturation type, with snow-capped teeth//amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1//amelogenesis imperfecta, type 1e, x-linked dominant//amelx amelogenesis imperfecta//enamel hypoplasia x-linked//enamel hypoplasia, x-linked 1//x-linked amelogenesis imperfecta 1//x-linked amelogenesis imperfecta hypoplastic/hypomaturation 1	AMELX	AMELX	https://raresource.nih.gov/literature/disease/0009943	0009943	301200		C1845053		amelogenin X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1E"	12
X-linked intellectual disability-cerebellar hypoplasia syndrome	intellectual developmental disorder, x-linked syndromic, billuart type, x-linked recessive//intellectual developmental disorder, x-linked, syndromic, billuart type//mental retardation, x-linked 60//oligophrenin-1 syndrome//ophn1 syndrome	OPHN1	OPHN1	https://raresource.nih.gov/literature/disease/0009947	0009947	300486	137831	C1845366	C537456	oligophrenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-cerebellar hypoplasia syndrome"	1
Spinocerebellar ataxia type 23	sca23	PDYN	PDYN	https://raresource.nih.gov/literature/disease/0009950	0009950	610245	101108	C1853250	C537201	prodynorphin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 23"	12
Spinocerebellar ataxia type 28	sca28	AFG3L2	AFG3L2	https://raresource.nih.gov/literature/disease/0009951	0009951	610246	101109	C1853249	C537205	AFG3 like matrix AAA peptidase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 28"	36
Congenital primary aphakia	anterior segment dysgenesis 2//anterior segment dysgenesis 2, multiple subtypes//aphakia, congenital primary//congenital absence of lens//congenital aphakia	FOXE3	FOXE3	https://raresource.nih.gov/literature/disease/0009952	0009952	610256	83461	C1853230	C537786	forkhead box E3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital primary aphakia"	44
Spinocerebellar ataxia type 27	sca27	FGF14	FGF14	https://raresource.nih.gov/literature/disease/0009963	0009963		98764	C1836383	C537204	fibroblast growth factor 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 27"	16
Glycogen storage disease type X	dimauro disease//glycogen storage disease caused by mutation in pgam2//glycogen storage disease due to phosphoglycerate mutase deficiency//glycogen storage disease type 10//glycogenosis due to phosphoglycerate mutase deficiency//gsd due to phosphoglycerate mutase deficiency//gsd type 10//gsd x//gsd x - glycogen storage disease type x//gsd10//muscle phosphoglycerate mutase deficiency//myopathy due to phosphoglycerate mutase deficiency//pgam2 glycogen storage disease//pgamm deficiency//phosphoglycerate mutase, muscle, deficiency of	PGAM2	PGAM2	https://raresource.nih.gov/literature/disease/0009964	0009964	261670	97234	C0268149	C536176	phosphoglycerate mutase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease type X"	9
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	congenital disorder of glycosylation due to pigm deficiency//glycosylphosphatidylinositol biosynthesis defect 1//gpibd1//pigm-cdg	PIGM	PIGM	https://raresource.nih.gov/literature/disease/0009965	0009965	610293	83639	C5201145		phosphatidylinositol glycan anchor biosynthesis class M	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	None
Duane retraction syndrome 2	chn1 duane retraction syndrome//duane retraction syndrome caused by mutation in chn1//duane retraction syndrome type 2	CHN1	CHN1	https://raresource.nih.gov/literature/disease/0009966	0009966	604356		C0751083		chimerin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duane retraction syndrome 2"	None
Spinocerebellar ataxia type 4	sca4	ZFHX3	ZFHX3	https://raresource.nih.gov/literature/disease/0009970	0009970	600223	98765	C0752122		zinc finger homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 4"	21
Spinocerebellar ataxia type 31	sca31	BEAN1	BEAN1	https://raresource.nih.gov/literature/disease/0009975	0009975	117210	217012	C1861736	C566146	brain expressed associated with NEDD4 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 31"	44
Spinocerebellar ataxia type 18	sca18	IFRD1	IFRD1	https://raresource.nih.gov/literature/disease/0009976	0009976	607458	98771	C1843884	C537197	interferon related developmental regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 18"	5
CAMOS syndrome	camos (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome//cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome//cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome//scar5//scar5 - spinocerebellar ataxia autosomal recessive 5	WDR73	WDR73	https://raresource.nih.gov/literature/disease/0009977	0009977		83472	C4511633		WD repeat domain 73	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CAMOS syndrome"	None
Leber congenital amaurosis 5	amaurosis congenita of leber, type 5//lca5//lca5 leber congenital amaurosis//lca5-related leber congenital amaurosis//leber congenital amaurosis caused by mutation in lca5//leber congenital amaurosis type 5	LCA5	LCA5	https://raresource.nih.gov/literature/disease/0009983	0009983	604537		C1858301	C536602	lebercilin LCA5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 5"	4
Severe combined immunodeficiency due to DCLRE1C deficiency	dclre1c severe combined immunodeficiency (disease)//rs-scid//scid due to artemis deficiency//scid due to dclre1c deficiency//scid, athabascan type//scid, athabaskan type//scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation//severe combined immunodeficiency (disease) caused by mutation in dclre1c//severe combined immunodeficiency due to artemis deficiency//severe combined immunodeficiency, athabascan type//severe combined immunodeficiency, athabaskan type	DCLRE1C	DCLRE1C	https://raresource.nih.gov/literature/disease/0009987	0009987	602450	275	C1865370		DNA cross-link repair 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to DCLRE1C deficiency"	315
Mandibuloacral dysplasia with type B lipodystrophy	lipodystrophy, type b, associated with mandibuloacral dysplasia//madb//mandibuloacral dysostosis co-occurrent with type b lipodystrophy	ZMPSTE24	ZMPSTE24	https://raresource.nih.gov/literature/disease/0009989	0009989	608612	90154	C1837756	C535706	zinc metallopeptidase STE24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibuloacral dysplasia with type B lipodystrophy"	7
Ehlers-Danlos syndrome progeroid type	b4galt7-cdg//b4galt7-related spondylodysplastic eds//b4galt7-related spondylodysplastic ehlers-danlos syndrome//defective biosynthesis of proteodermatan sulfate//defective biosynthesis of proteodermatan sulphate//eds progeroid type 1//eds with short stature and limb anomalies//eds, progeroid type//ehlers-danlos syndrome, spondylodysplastic type//galactosyltransferase i deficiency//pds//speds-b4galt7	B4GALT7	B4GALT7	https://raresource.nih.gov/literature/disease/0009991	0009991		75496	CN030853	C536201	beta-1,4-galactosyltransferase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome progeroid type"	1380
Clark-Baraitser syndrome	baraitser syndrome//intellectual disability, autosomal dominant 49//mental retardation, autosomal dominant 49//mental retardation, tall stature, obesity, macrocephaly and typical facial features//mrd49	TRIP12	TRIP12	https://raresource.nih.gov/literature/disease/0009994	0009994	617752	600731	C2931130	C536208	thyroid hormone receptor interactor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Clark-Baraitser syndrome"	13
Spinocerebellar ataxia type 26	sca26	EEF2	EEF2	https://raresource.nih.gov/literature/disease/0009995	0009995	609306	101112	C1836395	C537203	eukaryotic translation elongation factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 26"	5
Spinocerebellar ataxia type 25	sca25	PNPT1	PNPT1	https://raresource.nih.gov/literature/disease/0009996	0009996	608703	101111	C1837518	C537202	polyribonucleotide nucleotidyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 25"	5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	c10orf2-related ataxia neuropathy spectrum disorders//epilepsy, progressive myoclonic, type 5//epm5//mitochondrial recessive ataxia syndrome (includes sando and scae)//pme type 5//polg-related ataxia neuropathy spectrum disorders//prickle2 progressive myoclonic epilepsy//progressive myoclonic epilepsy caused by mutation in prickle2//progressive myoclonus epilepsy type 5//sando//sando (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome//sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome//sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive//sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	POLG	POLG	https://raresource.nih.gov/literature/disease/0009998	0009998	607459	70595	C1843851		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"	43
Spinocerebellar ataxia type 21	sca21	TMEM240	TMEM240	https://raresource.nih.gov/literature/disease/0009999	0009999	607454	98773	C1843891	C537200	transmembrane protein 240	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 21"	13
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	scan1//spinocerebellar ataxia type 1 with axonal neuropathy//spinocerebellar ataxia with axonal neuropathy//spinocerebellar ataxia with axonal neuropathy type 1	TDP1	TDP1	https://raresource.nih.gov/literature/disease/0010000	0010000	607250	94124	C4759870	C537313	tyrosyl-DNA phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"	1110
Congenital secretory diarrhea, chloride type	chloride diarrhea, congenital, finnish type//chloridorrhea, congenital//congenital chloride diarrhea//congenital chloride diarrhea finnish type//congenital chloride diarrhoea finnish type//congenital chloridorrhea//congenital secretory chloride diarrhea 1//congenital secretory chloride diarrhea type 1//congenital secretory chloride diarrhoea type 1//defective cl^-^/hco^-^>3< exchange in ileum and/or colon//diar1//diarrhea 1, secretory chloride, congenital//familial chloride diarrhea//secretory diarrhea caused by mutation in slc26a3//secretory diarrhoea caused by mutation in slc26a3//slc26a3 secretory diarrhea//slc26a3 secretory diarrhoea	SLC26A3	SLC26A3	https://raresource.nih.gov/literature/disease/0010001	0010001	214700	53689	C0267662	C536210	solute carrier family 26 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital secretory diarrhea, chloride type"	190
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	dementia, hereditary dysphasic disinhibition//frontotemporal dementia with tdp43 inclusions, grn-related//frontotemporal lobar degeneration with ubiquitin-positive inclusions//ftd2//ftld-tdp, grn-related//grn-related frontotemporal dementia	GRN	GRN	https://raresource.nih.gov/literature/disease/0010004	0010004	607485		C1843792		granulin precursor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GRN-related frontotemporal lobar degeneration with Tdp43 inclusions"	5
Progressive familial heart block	familial lenegre disease//familial lenègre disease//familial lev disease//familial lev-lenegre disease//familial lev-lenègre disease//familial pccd//familial progressive cardiac conduction defect//familial progressive heart block//hereditary bundle branch defect//pfhb	TRPM4;SCN1B;SCN5A	TRPM4;SCN1B;SCN5A	https://raresource.nih.gov/literature/disease/0010005	0010005		871	CN230454		transient receptor potential cation channel subfamily M member 4; sodium voltage-gated channel beta subunit 1; sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial heart block"	13
Immunodeficiency 61	agmx2//imd61//immunodeficiency 61, x-linked recessive	SH3KBP1	SH3KBP1	https://raresource.nih.gov/literature/disease/0010007	0010007	300310		C1845903	C538057	SH3 domain containing kinase binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 61"	None
Transient bullous dermolysis of the newborn	deb, bullous dermolysis of the newborn//deb-bdn//dystrophic epidermolysis bullosa, neonatal//epidermolysis bullosa dystrophica, neonatal form//self-improving deb//self-improving dystrophic epidermolysis bullosa//tbdn//transient bullous dermolysis of newborn//transient bullous of the newborn	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0010010	0010010	131705	79411	C1851573	C536979	collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transient bullous dermolysis of the newborn"	9
Camptodactyly-tall stature-scoliosis-hearing loss syndrome	camptodactyly and tall stature with scoliosis and hearing loss syndrome//camptodactyly-tall stature-scoliosis-deafness syndrome//catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome//catshl syndrome	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0010012	0010012	610474	85164	C1864852	C537975	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camptodactyly-tall stature-scoliosis-hearing loss syndrome"	4
Fuchs' endothelial dystrophy	corneal dystrophy, fuchs endothelial//endoepithelial corneal dystrophy//fced//fecd//fuch's endothelial corneal dystrophy//fuchs corneal dystrophy//fuchs endothelial corneal dystrophy//fuchs' corneal dystrophy//fuchs' endothelial corneal dystrophy//late hereditary endothelial dystrophy	ZEB1;COL8A2;TCF4;AGBL1;SLC4A11	ZEB1;COL8A2;TCF4;AGBL1;SLC4A11	https://raresource.nih.gov/literature/disease/0010018	0010018		98974	C0016781	D005642	zinc finger E-box binding homeobox 1; collagen type VIII alpha 2 chain; transcription factor 4; AGBL carboxypeptidase 1; solute carrier family 4 member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fuchs' endothelial dystrophy"	1520
Bruck syndrome 2	brks2//bruck syndrome caused by mutation in plod2//bruck syndrome type 2//plod2 bruck syndrome	PLOD2	PLOD2	https://raresource.nih.gov/literature/disease/0010023	0010023	609220		C1836602	C537407	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bruck syndrome 2"	4
Camptomelic dysplasia	campomelic dwarfism//campomelic dysplasia//campomelic syndrome//cmd//cmpd//cmpd1/sra1	SOX9	SOX9	https://raresource.nih.gov/literature/disease/0010027	0010027	114290	140	C1861922	D055036	SRY-box transcription factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camptomelic dysplasia"	3606
Benign recurrent intrahepatic cholestasis type 1	atp8b1 benign recurrent intrahepatic cholestasis//benign recurrent intrahepatic cholestasis caused by mutation in atp8b1//bric type 1//bric1//cholestasis, benign recurrent intrahepatic, type 1//summerskill syndrome	ATP8B1	ATP8B1	https://raresource.nih.gov/literature/disease/0010028	0010028	243300	99960	C4551899		ATPase phospholipid transporting 8B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign recurrent intrahepatic cholestasis type 1"	14
Benign recurrent intrahepatic cholestasis type 2	bric type 2//bric2//cholestasis, benign recurrent intrahepatic, type 2//recurrent familial intrahepatic cholestasis 2	ABCB11	ABCB11	https://raresource.nih.gov/literature/disease/0010029	0010029	605479	99961	C2608083	C535934	ATP binding cassette subfamily B member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign recurrent intrahepatic cholestasis type 2"	19
Familial encephalopathy with neuroserpin inclusion bodies	encephalopathy, familial, with collins bodies//familial dementia with neuroserpin inclusion bodies//fenib	SERPINI1	SERPINI1	https://raresource.nih.gov/literature/disease/0010037	0010037	604218	85110	C1858680	C536841	serpin family I member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial encephalopathy with neuroserpin inclusion bodies"	35
Hydroxykynureninuria	encephalopathy due to hydroxykynureninuria//kynureninase deficiency//xanthurenic aciduria	KYNU	KYNU	https://raresource.nih.gov/literature/disease/0010039	0010039	236800	79155	C0268474	C536081	kynureninase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydroxykynureninuria"	18
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	bmks//branchio oculo facial syndrome hing type//burn mckeown syndrome//burn-mckeown syndrome//choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome//oculootofacial dysplasia	TXNL4A	TXNL4A	https://raresource.nih.gov/literature/disease/0010041	0010041	608572	1200	C1837822	C563682	thioredoxin like 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	14
Usher syndrome type 1F	ush1f//usher syndrome type if//usher syndrome, type if	PCDH15	PCDH15	https://raresource.nih.gov/literature/disease/0010043	0010043	602083		C1865885		protocadherin related 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1F"	33
Congenital bile acid synthesis defect 2	akr1d1 congenital bile acid synthesis defect//basd2//bile acid synthesis defect, congenital, type 2//cbas2//cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency//congenital bile acid synthesis defect caused by mutation in akr1d1//congenital bile acid synthesis defect type 2//delta-4-3-oxosteroid-5-beta-reductase deficiency	AKR1D1	AKR1D1	https://raresource.nih.gov/literature/disease/0010045	0010045	235555	79303	C1856127	C535443	aldo-keto reductase family 1 member D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect 2"	10
Congenital bile acid synthesis defect 4	2-methylacyl-coa racemase deficiency//alpha-methyl-acyl-coa racemase deficiency//bas defect type 4//basd4//bile acid synthesis defect, congenital, type 4//cbas4//cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid//intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid//liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome//trihydroxycoprostanic acid in bile	AMACR	AMACR	https://raresource.nih.gov/literature/disease/0010046	0010046	214950	79095	C1858328	C535444	alpha-methylacyl-CoA racemase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect 4"	212
Central areolar choroidal dystrophy	areolar atrophy of the macula//cacd//central areolar choroidal sclerosis//choroidal dystrophy	GUCA1A;GUCY2D;PRPH2	GUCA1A;GUCY2D;PRPH2	https://raresource.nih.gov/literature/disease/0010049	0010049		75377	C1536451		guanylate cyclase activator 1A; guanylate cyclase 2D, retinal; peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central areolar choroidal dystrophy"	1502
Bietti crystalline corneoretinal dystrophy	bcd//bietti crystalline dystrophy//bietti crystalline retinopathy//bietti tapetoretinal degeneration with marginal corneal dystrophy//bietti's crystalline dystrophy//bietti's crystalline retinopathy	CYP4V2	CYP4V2	https://raresource.nih.gov/literature/disease/0010050	0010050	210370	41751	C1859486	C535440	cytochrome P450 family 4 subfamily V member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bietti crystalline corneoretinal dystrophy"	319
Limb-mammary syndrome	lms//mammary hypoplasia, ectrodactyly, and other hand/foot anomalies	TP63	TP63	https://raresource.nih.gov/literature/disease/0010051	0010051	603543	69085	C1863753	C535903	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Limb-mammary syndrome"	1627
Al-Gazali syndrome	al gazali al talabani syndrome//al gazali lytle syndrome//eye defects arachnodactyly cardiopathy//eye defects, arachnodactyly, cardiopathy syndrome	B3GALT6	B3GALT6	https://raresource.nih.gov/literature/disease/0010054	0010054	609465		C1836121	C536817	beta-1,3-galactosyltransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Al-Gazali syndrome"	5
Mandibulofacial dysostosis-microcephaly syndrome	growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate//mandibulofacial dysostosis with microcephaly//mandibulofacial dysostosis, guion-almeida type//mfdga//mfdm syndrome	EFTUD2	EFTUD2	https://raresource.nih.gov/literature/disease/0010056	0010056	610536	79113	C1864652	C537405	elongation factor Tu GTP binding domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibulofacial dysostosis-microcephaly syndrome"	141
Spondyloepimetaphyseal dysplasia, Genevieve type	nans deficiency//semd genevieve type//semd, geneviève type//semdg//semdg - spondyloepimetaphyseal dysplasia genevieve type//spondyloepimetaphyseal dysplasia geneviève type//spondyloepimetaphyseal dysplasia, camera-genevieve type//spondyloepimetaphyseal dysplasia, geneviève type	NANS	NANS	https://raresource.nih.gov/literature/disease/0010057	0010057	610442	168454	C1864872	C535785	N-acetylneuraminate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Genevieve type"	2
Diaphyseal medullary stenosis-bone malignancy syndrome	bone dysplasia with malignant fibrous histiocytoma//bone dysplasia with medullary fibrosarcoma//bone dysplasia-medullary fibrosarcoma syndrome//diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome//dms-mfh//hardcastle syndrome//hardcastle's syndrome//myopathy, limb-girdle, with bone fragility	MTAP	MTAP	https://raresource.nih.gov/literature/disease/0010072	0010072	112250	85182	C1862177		methylthioadenosine phosphorylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diaphyseal medullary stenosis-bone malignancy syndrome"	6
Nephropathic cystinosis	abderhalden kaufmann lignac syndrome//abderhalden lignac kaufmann disease//abderhalden-kaufmann-lignac syndrome//abderhalden-lignac-kaufmann disease//ctns//cystinosin, defect of//cystinosis, atypical nephropathic//cystinosis, nephropathic//lysosomal cystine transport protein, defect of	CTNS	CTNS	https://raresource.nih.gov/literature/disease/0010074	0010074	219800		C2931187	C535335	cystinosin, lysosomal cystine transporter	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephropathic cystinosis"	478
Acromesomelic dysplasia 3	acromesomelic dysplasia, demirhan type//amd3//amdd//chondrodysplasia, acromesomelic, with or without genital anomalies	BMPR1B	BMPR1B	https://raresource.nih.gov/literature/disease/0010077	0010077	609441		C4225404	C537913	bone morphogenetic protein receptor type 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromesomelic dysplasia 3"	24
Infantile osteopetrosis with neuroaxonal dysplasia		OSTM1	OSTM1	https://raresource.nih.gov/literature/disease/0010082	0010082	600329	85179	C1838258	C536055	osteoclastogenesis associated transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile osteopetrosis with neuroaxonal dysplasia"	116
Hepatic veno-occlusive disease-immunodeficiency syndrome	hepatic veno-occlusive disease with immunodeficiency//vodi syndrome	SP110	SP110	https://raresource.nih.gov/literature/disease/0010083	0010083	235550	79124	C1856128	C537257	SP110 nuclear body protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatic veno-occlusive disease-immunodeficiency syndrome"	1
Hemifacial myohyperplasia	hfmh	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0010084	0010084	606773	141148	C1847521	C535862	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemifacial myohyperplasia"	5
Majeed syndrome	chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis//chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis//chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome//mjds	LPIN2	LPIN2	https://raresource.nih.gov/literature/disease/0010088	0010088	609628	77297	C1864997	C537839	lipin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Majeed syndrome"	61
TARP syndrome	pierre robin sequence, congenital heart defect, talipes syndrome//pierre robin sequence-congenital heart defect-talipes syndrome//pierre robin syndrome with congenital heart malformation and clubfoot//pierre robin syndrome, congenital heart defect, talipes syndrome//pierre robin syndrome-congenital heart defect-talipes syndrome//talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava//talipes equinovarus-atrial septal defect-robin sequence-persistence of the left superior vena cava syndrome//tarp (talipes equinovarus, atrial septal defect, robin sequence, persistence of left superior vena cava) syndrome//tarp syndrome, x-linked recessive//tarps	RBM10	RBM10	https://raresource.nih.gov/literature/disease/0010089	0010089	311900	2886	C1839463	C536942	RNA binding motif protein 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TARP syndrome"	29
Sotos syndrome	cerebral giant//cerebral gigantism//cerebral gigantism syndrome//chromosome 5q35 deletion syndrome//distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development//nsd1 sotos syndrome//sotos//sotos syndrome 1//sotos syndrome caused by mutation in nsd1//sotos syndrome type 1	NSD1	NSD1	https://raresource.nih.gov/literature/disease/0010091	0010091	117550	821	C0175695	D058495	nuclear receptor binding SET domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sotos syndrome"	652
Juvenile hemochromatosis	hemochromatosis type 2//hfe2//jhh//juvenile hereditary hemochromatosis	HAMP;HJV	HAMP;HJV	https://raresource.nih.gov/literature/disease/0010092	0010092		79230	C0268060	C537247	hepcidin antimicrobial peptide; hemojuvelin BMP co-receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile hemochromatosis"	138
Hemochromatosis type 3	hemochromatosis due to defect in transferrin receptor 2//hereditary hemochromatosis caused by mutation in tfr2//hereditary hemochromatosis type 3//hfe3//tfr2 (transferrin receptor 2 gene) related hemochromatosis//tfr2 hereditary hemochromatosis//tfr2-related hemochromatosis//tfr2-related hereditary hemochromatosis	TFR2	TFR2	https://raresource.nih.gov/literature/disease/0010093	0010093	604250	225123	C1858664	C537248	transferrin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 3"	16
Hemochromatosis type 4	autosomal dominant hereditary hemochromatosis//ferroportin disease//hemochromatosis due to defect in ferroportin//hemochromatosis type 4a//hemochromatosis, autosomal dominant//hereditary hemochromatosis caused by mutation in slc40a1//hfe4//slc40a1 hereditary hemochromatosis//slc40a1-related hereditary hemochromatosis	SLC40A1	SLC40A1	https://raresource.nih.gov/literature/disease/0010094	0010094	606069		C1853733	C537249	solute carrier family 40 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 4"	111
Migraine, familial hemiplegic, 2	atp1a2 familial or sporadic hemiplegic migraine//familial hemiplegic migraine type 2//familial or sporadic hemiplegic migraine caused by mutation in atp1a2//migraine, familial hemiplegic, type 2	ATP1A2	ATP1A2	https://raresource.nih.gov/literature/disease/0010095	0010095	602481		C1865322	C537246	ATPase Na+/K+ transporting subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Migraine, familial hemiplegic, 2"	73
Hereditary leiomyomatosis and renal cell cancer	cutaneous leiomyomata with uterine leiomyomata//familial leiomyomatosis//familial leiomyomatosis and renal cell cancer//familial leiomyomatosis cutis et uteri//familial leiomyomatosis with renal carcinoma//familial multiple cutaneous leiomyomas//hereditary leiomyomatosis//hereditary leiomyomatosis and renal cell cancer syndrome//hereditary leiomyomatosis and renal cell carcinoma//hereditary leiomyomatosis with renal carcinoma//hereditary multiple cutaneous leiomyomas//hlrcc//hlrcc - hereditary leiomyomatosis and renal cell cancer//leiomyoma, hereditary multiple, of skin//leiomyoma, multiple cutaneous//leiomyomatosis and renal cell cancer//mcul//multiple cutaneous and uterine leiomyomas//multiple cutaneous and uterine leiomyomata//multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma//multiple cutaneous and uterine leiomyomatosis//multiple cutaneous leiomyomas//reed syndrome	FH	FH	https://raresource.nih.gov/literature/disease/0010096	0010096	150800	523	C1708350	C535516	fumarate hydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary leiomyomatosis and renal cell cancer"	521
Gamma-Glutamyltransferase deficiency	gamma-glutamyl transpeptidase deficiency//gamma-glutamyltranspeptidase deficiency//ggt deficiency//ggt1 deficiency//glutathioninuria//glutathionuria//gtg deficiency//inborn error of glutathione hydrolase activity//inborn glutathione hydrolase activity disorder//rare inborn error of glutathione hydrolase activity	GGT1	GGT1	https://raresource.nih.gov/literature/disease/0010099	0010099	231950	33573	C0268524	C536836	gamma-glutamyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gamma-Glutamyltransferase deficiency"	33
Pseudoxanthoma elasticum, forme fruste	pseudoxanthoma elasticum, heterozygous//pseudoxanthoma elasticum, incomplete	ABCC6	ABCC6	https://raresource.nih.gov/literature/disease/0010104	0010104	177850		C1867450		ATP binding cassette subfamily C member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudoxanthoma elasticum, forme fruste"	None
Autosomal recessive osteopetrosis 7	autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia//autosomal recessive osteopetrosis type 7//optb7//osteoclast-poor osteopetrosis with hypogammaglobulinemia//osteopetrosis (disease) caused by mutation in tnfrsf11a//osteopetrosis, autosomal recessive type 7//osteopetrosis-hypogammaglobulinemia syndrome//tnfrsf11a osteopetrosis (disease)//tnfrsf11a- related autosomal recessive osteopetrosis	TNFRSF11A	TNFRSF11A	https://raresource.nih.gov/literature/disease/0010106	0010106	612301	178389	C2676766	C567354	TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 7"	1
Congenital myasthenic syndrome 4C	cms id//cms1d//cms4c//congenital myasthenic syndrome 4c associated with acetylcholine receptor deficiency//congenital myasthenic syndrome type 4c//congenital myasthenic syndrome type id//familial infantile myasthenia 1//fim1//gfpt1-related congenital myasthenic syndrome//musk-related congenital myasthenic syndrome//myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	MUSK;GFPT1;CHRNE	MUSK;GFPT1;CHRNE	https://raresource.nih.gov/literature/disease/0010108	0010108	608931		C1837091		muscle associated receptor tyrosine kinase; glutamine--fructose-6-phosphate transaminase 1; cholinergic receptor nicotinic epsilon subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 4C"	2
De Lange syndrome	amsterdam dwarf//brachmann de lange syndrome//brachmann-de lange syndrome//bruck-de lange syndrome//cdl//cdls//cornelia de lange syndrome//degenerative amstelodamensis typus//degenerative amsterodamensis typus//typus degenerativus amstelodamensis	RAD21;SMC1A;HDAC8;BRD4;NIPBL;SMC3	RAD21;SMC1A;HDAC8;BRD4;NIPBL;SMC3	https://raresource.nih.gov/literature/disease/0010109	0010109		199	C0270972	D003635	RAD21 cohesin complex component; structural maintenance of chromosomes 1A; histone deacetylase 8; bromodomain containing 4; NIPBL cohesin loading factor; structural maintenance of chromosomes 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=De Lange syndrome"	1184
Actin accumulation myopathy	acta1 nemaline myopathy//actin accumulation myopathy (disorder)//actin myopathy//cmyo2a//congenital myopathy 2a, typical, autosomal dominant//congenital myopathy with excess of thin filaments//congenital myopathy with excess thin filaments//myopathy, actin, congenital, with cores//myopathy, actin, congenital, with excess of thin myofilaments//nemaline myopathy 3//nemaline myopathy 3, autosomal dominant or recessive//nemaline myopathy 3, with intranuclear rods//nemaline myopathy caused by mutation in acta1//nemaline myopathy type 3	ACTA1	ACTA1	https://raresource.nih.gov/literature/disease/0010111	0010111	161800	98904	C3711389	C579880;C580202	actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Actin accumulation myopathy"	19
Autosomal recessive congenital ichthyosis 11	autosomal recessive congenital ichthyosis type 11//autosomal recessive ichthyosis with hypotrichosis//hypotrichosis-congenital ichthyosis syndrome//ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis//ichthyosis, congenital, autosomal recessive type 11//ichthyosis-follicular atrophoderma-hypotrichosis syndrome//ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome//ichthyosis-hypotrichosis syndrome//ifah syndrome//ihs	ST14	ST14	https://raresource.nih.gov/literature/disease/0010116	0010116	602400	91132	C1835851	C536273	ST14 transmembrane serine protease matriptase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 11"	609
Oguchi disease	congenital stationary night blindness, oguchi type//oguchi syndrome//oguchi's disease	SAG;GRK1	SAG;GRK1	https://raresource.nih.gov/literature/disease/0010118	0010118		75382	C1306122	C537743	S-antigen visual arrestin; G protein-coupled receptor kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oguchi disease"	139
MORM syndrome	intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome//intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome//mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome//mental retardation, truncal obesity, retinal dystrophy, and micropenis//mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome//morm (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome//morms	INPP5E	INPP5E	https://raresource.nih.gov/literature/disease/0010121	0010121	610156	75858	C1857802	C536984	inositol polyphosphate-5-phosphatase E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MORM syndrome"	4
GM1 gangliosidosis type 2	gangliosidosis, generalized gm1, juvenile type//gangliosidosis, generalized gm1, type 2//gangliosidosis, generalized gm1, type ii//gm1 gangliosidosis type ii//gm1-gangliosidosis, type ii//juvenile gm1 gangliosidosis//juvenile gm>1< gangliosidosis//late-infantile gm1 gangliosidosis	GLB1	GLB1	https://raresource.nih.gov/literature/disease/0010126	0010126	230600	79256	C0268272		galactosidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GM1 gangliosidosis type 2"	33
Isolated lutropin deficiency	46,xy disorder of sex development due to lhb deficiency//46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency//46,xy dsd due to lhb deficiency//46,xy dsd due to luteinizing hormone subunit beta deficiency//fertile eunuch//fertile eunuch syndrome//hh23//hypogonadotropic hypogonadism 23 with or without anosmia//hypogonadotropic hypogonadism 23 without anosmia//hypogonadotropic hypogonadism caused by mutation in lhb//leydig cell hypoplasia due to lhb deficiency//leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency//lhb hypogonadotropic hypogonadism//pasqualini syndrome	LHB	LHB	https://raresource.nih.gov/literature/disease/0010127	0010127	228300	325448	C0271582	C537919	luteinizing hormone subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated lutropin deficiency"	19
Hypogonadotropic hypogonadism 24 without anosmia	follicle-stimulating hormone deficiency, isolated//fshb hypogonadotropic hypogonadism//hh24//hypogonadotropic hypogonadism 24 with or without anosmia//hypogonadotropic hypogonadism caused by mutation in fshb//isolated follicle stimulating hormone deficiency//isolated follicle-stimulating hormone deficiency//isolated fsh deficiency	FSHB	FSHB	https://raresource.nih.gov/literature/disease/0010128	0010128	229070	52901	C5574957	C537070	follicle stimulating hormone subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 24 without anosmia"	3121
Isolated thyroid-stimulating hormone deficiency	chng4//hypothryoidism, congenital, nongoitrous 4//hypothyroidism, congenital, nongoitrous 4//hypothyroidism, congenital, nongoitrous, type 4//isolated thyrotropin deficiency//isolated tsh deficiency//pituitary cretinism//thyroid-stimulating hormone deficiency//thyroid-stimulating hormone, deficiency of//thyrotropin deficiency, isolated	TSHB	TSHB	https://raresource.nih.gov/literature/disease/0010129	0010129	275100	90674	C0271789		thyroid stimulating hormone subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated thyroid-stimulating hormone deficiency"	62
Phelan-McDermid syndrome	22q13.3 deletion//22q13.3 deletion syndrome//monosomy 22q13//monosomy 22q13.3//phmds//telomeric 22q13 monosomy syndrome	SHANK3	SHANK3	https://raresource.nih.gov/literature/disease/0010130	0010130	606232	48652	C1853490	C536801	SH3 and multiple ankyrin repeat domains 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phelan-McDermid syndrome"	368
Hereditary motor and sensory neuropathy, Okinawa type	hereditary motor and sensory neuropathy proximal type//hereditary motor and sensory neuropathy, proximal type//hmsno//hmsnp	TFG	TFG	https://raresource.nih.gov/literature/disease/0010131	0010131	604484	90117	C1858338	C535717	trafficking from ER to golgi regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary motor and sensory neuropathy, Okinawa type"	1
Charcot-Marie-Tooth disease type 4G	autosomal recessive charcot-marie-tooth disease type 4g//charcot-marie-tooth disease type 4 caused by mutation in hk1//charcot-marie-tooth disease, demyelinating, type 4g//charcot-marie-tooth neuropathy type 4g//charcot-marie-tooth neuropathy, type 4g//cmt4g//hereditary motor and sensory neuropathy russe type//hereditary motor and sensory neuropathy, russe type//hk1 charcot-marie-tooth disease type 4//hmsnr//neuropathy, hereditary motor and sensory, russe type	HK1	HK1	https://raresource.nih.gov/literature/disease/0010132	0010132	605285	99953	C1854449	C535813	hexokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4G"	6
Autosomal recessive distal spinal muscular atrophy 2	autosomal recessive distal spinal muscular atrophy type 2//dhmnj//distal hereditary motor neuropathy jerash type//distal hereditary motor neuropathy, jerash type//dsma2//hereditary motor neuropathy, jerash type//motor neuropathy, distal, jerash type//neuronopathy, distal hereditary motor, jerash type//neuropathy, distal hereditary motor, autosomal recessive 2//neuropathy, distal hereditary motor, jerash type//spinal muscular atrophy jerash type//spinal muscular atrophy, distal, autosomal recessive, type 2//spinal muscular atrophy, jerash type	SIGMAR1	SIGMAR1	https://raresource.nih.gov/literature/disease/0010133	0010133	605726	139552	C1854023	C535715	sigma non-opioid intracellular receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive distal spinal muscular atrophy 2"	1182
Torsion dystonia 4	dystonia musculorum deformans 4//dyt4//hereditary whispering dysphonia//primary dystonia, dyt4 type//torsion dystonia type 4//whispering dysphonia	TUBB4A	TUBB4A	https://raresource.nih.gov/literature/disease/0010138	0010138	128101	98805	C1851943		tubulin beta 4A class IVa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Torsion dystonia 4"	20
Bohring-Opitz syndrome	bohring syndrome//bos syndrome//c-like syndrome//oberklaid-danks syndrome//opitz trigonocephaly-like syndrome	ASXL1	ASXL1	https://raresource.nih.gov/literature/disease/0010140	0010140	605039	97297	C0796232	C537419	ASXL transcriptional regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bohring-Opitz syndrome"	71
Osteogenesis imperfecta, perinatal lethal	lethal osteogenesis imperfecta//neonatal lethal osteogenesis imperfecta congenita//oi type 2//oi, type ii//oi2//osteogenesis imperfecta congenita//osteogenesis imperfecta congenita neonatal lethal form//osteogenesis imperfecta type 2//osteogenesis imperfecta type ii//osteogenesis imperfecta type ii, dominant form//osteogenesis imperfecta type iia//osteogenesis imperfecta, dominant perinatal lethal//osteogenesis imperfecta, neonatal lethal//osteogenesis imperfecta, type ii//perinatal lethal osteogenesis imperfecta congenita//vrolik type of osteogenesis imperfecta	COL1A2;COL1A1	COL1A2;COL1A1	https://raresource.nih.gov/literature/disease/0010142	0010142	166210	216804	C0268358	C536042	collagen type I alpha 2 chain; collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, perinatal lethal"	246
Dentinogenesis imperfecta type 3	brandywine type dentinogenesis imperfecta//brandywine type of dentinogenesis imperfecta//dentinogenesis imperfecta - shield's type iii//dentinogenesis imperfecta shields type 3//dentinogenesis imperfecta type iii//dentinogenesis imperfecta, shields type 3//dentinogenesis imperfecta, shields type iii//dgi-iii	DSPP	DSPP	https://raresource.nih.gov/literature/disease/0010144	0010144	125500	166265	C0399378	C538216	dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentinogenesis imperfecta type 3"	17
17p11.2 microduplication syndrome	17p11.2 duplication syndrome//chromosome 17p11.2 duplication syndrome//duplication 17p11.2 syndrome//potocki lupski syndrome//potocki-lupski syndrome//potocki-lupski syndrome (dup(17)(p11.2p11.2))//potocki-lupski syndrome, isolated cases//ptls//trisomy 17p11.2	FLCN;RAI1	FLCN;RAI1	https://raresource.nih.gov/literature/disease/0010145	0010145	610883	1713	C2931246		folliculin; retinoic acid induced 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=17p11.2 microduplication syndrome"	105
Melnick-Fraser syndrome	bor//bor syndrome//branchio-oto-renal syndrome//branchio-otorenal dysplasia//branchiootorenal dysplasia//branchiootorenal syndrome	SIX1;SIX5;EYA1	SIX1;SIX5;EYA1	https://raresource.nih.gov/literature/disease/0010147	0010147		107	C0265234	D019280	SIX homeobox 1; SIX homeobox 5; EYA transcriptional coactivator and phosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melnick-Fraser syndrome"	284
Branchiootic syndrome	bo syndrome//bor//branchiootic dysplasia	EYA1;SIX1	EYA1;SIX1	https://raresource.nih.gov/literature/disease/0010148	0010148		52429	C4273131	C537104	EYA transcriptional coactivator and phosphatase 1; SIX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiootic syndrome"	122
Kyphomelic dysplasia	kmd	CCN2	CCN2	https://raresource.nih.gov/literature/disease/0010149	0010149	211350	1801	C0432239	C538128	cellular communication network factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kyphomelic dysplasia"	29
Aicardi-Goutieres syndrome 5	aicardi-goutieres syndrome caused by mutation in samhd1//aicardi-goutieres syndrome type 5//samhd1 aicardi-goutieres syndrome	SAMHD1	SAMHD1	https://raresource.nih.gov/literature/disease/0010151	0010151	612952		C2749659	C535608	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 5"	None
Osteogenesis imperfecta type 8	lepre1-related osteogenesis imperfecta//oi8//osteogenesis imperfecta caused by mutation in p3h1//osteogenesis imperfecta type viii//p3h1 osteogenesis imperfecta	P3H1	P3H1	https://raresource.nih.gov/literature/disease/0010152	0010152	610915		C1970458	C536049	prolyl 3-hydroxylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 8"	11
Pulmonary venoocclusive disease	pulmonary capillary hemangiomatosis//pvod	EIF2AK4	EIF2AK4	https://raresource.nih.gov/literature/disease/0010153	0010153		31837	C0034091	D011668	eukaryotic translation initiation factor 2 alpha kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary venoocclusive disease"	466
Joubert syndrome 2	cerebellooculorenal syndrome 2//cors2//jbts2//joubert syndrome caused by mutation in tmem216//joubert syndrome type 2//tmem216 joubert syndrome//tmem216-related joubert syndrome	TMEM216	TMEM216	https://raresource.nih.gov/literature/disease/0010167	0010167	608091		C1842577	C536294	transmembrane protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 2"	3
Joubert syndrome with ocular defect	joubert syndrome with retinopathy//js-o	AHI1;MKS1;CEP120;INPP5E;CEP41	AHI1;MKS1;CEP120;INPP5E;CEP41	https://raresource.nih.gov/literature/disease/0010168	0010168		220493	C4274118		Abelson helper integration site 1; MKS transition zone complex subunit 1; centrosomal protein 120; inositol polyphosphate-5-phosphatase E; centrosomal protein 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with ocular defect"	None
Joubert syndrome with renal defect	jbts4//joubert syndrome 4//joubert syndrome type 4//js-r//nphp1-related joubert syndrome	NPHP1	NPHP1	https://raresource.nih.gov/literature/disease/0010169	0010169	609583	220497	C1846790	C536296	nephrocystin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with renal defect"	None
Brooke-Spiegler syndrome	cyld cutaneous syndrome//spiegler-brooke syndrome	CYLD	CYLD	https://raresource.nih.gov/literature/disease/0010179	0010179	605041	79493	C1857941		CYLD lysine 63 deubiquitinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brooke-Spiegler syndrome"	196
Cryohydrocytosis	chc//cryohydrocytosis due to band 3 blackburn//cryohydrocytosis due to band 3 hemel//cryohydrocytosis due to band 3 hurstpierpoint//hereditary cryohydrocytosis with normal stomatin//stomatocytosis, cold-sensitive	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0010184	0010184	185020	398088	C1861453	C535827	solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cryohydrocytosis"	3330
Isolated focal cortical dysplasia type II	cortical dysplasia of taylor//cortical dysplasia, taylor type//fcd type ii//fcord2//focal cortical dysplasia type ii//focal cortical dysplasia, type ii, somatic//isolated focal cortical dysplasia type 2	TSC1;MTOR	TSC1;MTOR	https://raresource.nih.gov/literature/disease/0010190	0010190	607341	268994	C1846385	C537067	TSC complex subunit 1; mechanistic target of rapamycin kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated focal cortical dysplasia type II"	138
Subcutaneous panniculitis-like T-cell lymphoma	sptcl//subcutaneous panniculitic cutaneous t-cell lymphoma//subcutaneous panniculitic t-cell lymphoma//subcutaneous panniculitis-like t-cell lymphoma (alpha/beta type)//subcutaneous panniculitis-like t-cell lymphoma, alpha/beta type	HAVCR2	HAVCR2	https://raresource.nih.gov/literature/disease/0010193	0010193	618398	86884	C0522624	C537503	hepatitis A virus cellular receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Subcutaneous panniculitis-like T-cell lymphoma"	516
Immunoglobulin A deficiency 2	igad2//immunoglobulin a deficiency type 2//selective iga deficiency disease caused by mutation in tnfrsf13b//tnfrsf13b selective iga deficiency disease	TNFRSF13B	TNFRSF13B	https://raresource.nih.gov/literature/disease/0010198	0010198	609529		C1836032	C536291	TNF receptor superfamily member 13B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunoglobulin A deficiency 2"	None
Optic atrophy 5	opa5	DNM1L	DNM1L	https://raresource.nih.gov/literature/disease/0010201	0010201	610708		C1853139	C537126	dynamin 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 5"	None
Chromosome 2q37 deletion syndrome	2q37 deletion syndrome//2q37 microdeletion syndrome//2q37 monosomy//albright hereditary osteodystrophy type 3//albright hereditary osteodystrophy-like syndrome//bdmr//brachydactyly intellectual disability syndrome//brachydactyly mental retardation syndrome//brachydactyly-intellectual disability syndrome//chromosome 2, monosomy 2q37//del(2)(q37)//deletion 2q37//deletion 2q37-qter//monosomy 2q37//monosomy 2q37-qter//monosomy 2q37qter	HDAC4	HDAC4	https://raresource.nih.gov/literature/disease/0010202	0010202	600430	1001	C2931817	C538317	histone deacetylase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 2q37 deletion syndrome"	45
Optic atrophy 3	autosomal dominant optic atrophy and cataract//autosomal dominant optic atrophy type 3//opa3//opa3, autosomal dominant//optic atrophy 3 with cataract//optic atrophy 3, autosomal dominant//optic atrophy, cataract, and neurologic disorder	OPA3	OPA3	https://raresource.nih.gov/literature/disease/0010203	0010203	165300	67036	C1833809	C537128	outer mitochondrial membrane lipid metabolism regulator OPA3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 3"	4
Bardet-Biedl syndrome 5	bardet-biedl syndrome caused by mutation in bbs5//bardet-biedl syndrome type 5//bbs5//bbs5 bardet-biedl syndrome	BBS5	BBS5	https://raresource.nih.gov/literature/disease/0010204	0010204	615983		C3892039		Bardet-Biedl syndrome 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 5"	2
Bardet-Biedl syndrome 6	bardet-biedl syndrome type 6//bbs6	MKKS	MKKS	https://raresource.nih.gov/literature/disease/0010205	0010205	605231		C1858054	C565738	MKKS centrosomal shuttling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 6"	82
Bardet-Biedl syndrome 7	bardet-biedl syndrome caused by mutation in bbs7//bardet-biedl syndrome type 7//bbs7//bbs7 bardet-biedl syndrome	BBS7	BBS7	https://raresource.nih.gov/literature/disease/0010206	0010206	615984		C1859565	C565916	Bardet-Biedl syndrome 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 7"	2
Bardet-Biedl syndrome 8	bardet-biedl syndrome caused by mutation in ttc8//bardet-biedl syndrome type 8//bbs8//ttc8 bardet-biedl syndrome	TTC8	TTC8	https://raresource.nih.gov/literature/disease/0010207	0010207	615985		C1859566	C565917	tetratricopeptide repeat domain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 8"	1
Bardet-Biedl syndrome 9	bardet-biedl syndrome caused by mutation in bbs9//bardet-biedl syndrome type 9//bbs9//bbs9 bardet-biedl syndrome	BBS9	BBS9	https://raresource.nih.gov/literature/disease/0010208	0010208	615986		C1859567	C565918	Bardet-Biedl syndrome 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 9"	None
Bardet-Biedl syndrome 10	bardet-biedl syndrome caused by mutation in bbs10//bardet-biedl syndrome type 10//bbs10//bbs10 bardet-biedl syndrome	BBS10	BBS10	https://raresource.nih.gov/literature/disease/0010209	0010209	615987		C1859568	C565919	Bardet-Biedl syndrome 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 10"	4
Bardet-Biedl syndrome 11	bardet-biedl syndrome caused by mutation in trim32//bardet-biedl syndrome type 11//bbs11//trim32 bardet-biedl syndrome	TRIM32	TRIM32	https://raresource.nih.gov/literature/disease/0010210	0010210	615988		C1859569	C565920	tripartite motif containing 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 11"	95
Bardet-Biedl syndrome 12	bardet-biedl syndrome caused by mutation in bbs12//bardet-biedl syndrome type 12//bbs12//bbs12 bardet-biedl syndrome	BBS12	BBS12	https://raresource.nih.gov/literature/disease/0010211	0010211	615989		C1859570	C565921	Bardet-Biedl syndrome 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 12"	None
Congenital generalized lipodystrophy type 2	berardinelli syndrome//berardinelli-seip congenital lipodystrophy type 2//brunzell syndrome bscl2-related//brunzell syndrome, bscl2-related//bscl2 congenital generalised lipodystrophy (disease)//bscl2 congenital generalized lipodystrophy (disease)//cgl2//congenital generalised lipodystrophy (disease) caused by mutation in bscl2//congenital generalized lipodystrophy (disease) caused by mutation in bscl2//congenital lipoatrophic diabetes//seip syndrome//total lipodystrophy and acromegaloid gigantism	BSCL2	BSCL2	https://raresource.nih.gov/literature/disease/0010212	0010212	269700		C1720863		BSCL2 lipid droplet biogenesis associated, seipin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital generalized lipodystrophy type 2"	63
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure//bpes type 2	FOXL2	FOXL2	https://raresource.nih.gov/literature/disease/0010213	0010213		572361	C5680363		forkhead box L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"	4
Neonatal intrahepatic cholestasis due to citrin deficiency	cdni//citrin deficiency, neonatal or infantile onset//neonatal intrahepatic cholestasis caused by citrin deficiency//neonatal-onset citrullinemia type 2//neonatal-onset citrullinemia type ii//niccd	SLC25A13	SLC25A13	https://raresource.nih.gov/literature/disease/0010214	0010214	605814	247598	C1853942	C536398	solute carrier family 25 member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal intrahepatic cholestasis due to citrin deficiency"	130
Citrullinemia type II	adult onset citrin deficiency//adult onset type 2 citrullinemia//adult-onset citrin deficiency//adult-onset citrullinemia type 2//adult-onset citrullinemia type ii//adult-onset type 2 citrullinemia//adult-onset type ii citrullinemia//citrullinemia type 2//ctln2	SLC25A13	SLC25A13	https://raresource.nih.gov/literature/disease/0010215	0010215		247585	C1863844		solute carrier family 25 member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Citrullinemia type II"	117
NDE1-related microhydranencephaly	hydranencephaly and microcephaly//mhac	NDE1	NDE1	https://raresource.nih.gov/literature/disease/0010216	0010216	605013	443162	C1857977	C537555	nudE neurodevelopment protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NDE1-related microhydranencephaly"	984
Spondyloepiphyseal dysplasia with metatarsal shortening	czech dysplasia//czech dysplasia metatarsal type//czech dysplasia, metatarsal type//pseudorheumatoid dysplasia progressive, with hypoplastic toes//pseudorheumatoid dysplasia, progressive, with hypoplastic toes//sed with metatarsal shortening//spondyloepiphyseal dysplasia with precocious osteoarthritis	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0010220	0010220	609162	137678	C1836683	C535766	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia with metatarsal shortening"	10
Renal cysts and diabetes syndrome	adtkd-hnf1b//atypical familial juvenile hyperuricemic nephropathy//atypical fjhn//cakut with diabetes//congenital anomalies of the kidney and urinary tract with diabetes//familial hypoplastic glomerulocystic kidney//familial hypoplastic, glomerulocystic kidney//hepatocyte nuclear factor 1-beta-associated monogenic diabetes//hnf1b (hnf1 homeobox b) monogenic diabetes mellitus//hnf1b monogenic diabetes mellitus//hnf1b-mody//hnf1b-mody - hnf1 homeobox b maturity-onset diabetes of the young type 5//hnf1b-related autosomal dominant tubulointerstitial kidney disease//hnf1b-related nephropathy//hnf1b-related renal cysts and diabetes syndrome//hypoplastic type glomerulocystic kidney disease//maturity onset diabetes of the young, type 5//maturity-onset diabetes of the young type 5//maturity-onset diabetes of the young, type 5//mody5//mody5 - maturity-onset diabetes of the young type 5//rcad//rcad syndrome//renal cysts-maturity-onset diabetes of the young syndrome//renal dysfunction-early-onset diabetes syndrome	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0010221	0010221	137920	93111	C0431693	C535520	HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal cysts and diabetes syndrome"	142
Deficiency of isobutyryl-CoA dehydrogenase	acad8 deficiency//acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase//acyl-coa dehydrogenase family, member 8, deficiency of//deficiency of isobutyryl-coenzyme a dehydrogenase//ibd deficiency//isobutyric aciduria//isobutyryl-coa dehydrogenase deficiency//isobutyryl-coa dehydrogenase deficiency disease//isobutyryl-coenzyme a dehydrogenase deficiency disease	ACAD8	ACAD8	https://raresource.nih.gov/literature/disease/0010223	0010223	611283	79159	C1969809	C535541	acyl-CoA dehydrogenase family member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of isobutyryl-CoA dehydrogenase"	33
Multiple endocrine neoplasia type 2B	men 2b//men 2b - multiple endocrine neoplasia type 2b//men 2b syndrome//men iib//men type 2b//men type iib//men2b//men2b - multiple endocrine neoplasia type 2b//mucosal neuroma syndrome//multiple endocrine adenomatosis type iib//multiple endocrine neoplasia iib//multiple endocrine neoplasia type 3//multiple endocrine neoplasia type iib//multiple endocrine neoplasia type iii//multiple endocrine neoplasia, type 3//multiple endocrine neoplasia, type iib//multiple endocrine neoplasia, type iii//neuromata, mucosal, with endocrine tumors//ret-related multiple endocrine neoplasia type 2b//wagenmann-froboese syndrome	RET	RET	https://raresource.nih.gov/literature/disease/0010225	0010225	162300	247709	C0025269	D018814	ret proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple endocrine neoplasia type 2B"	760
COG1 congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type 2g//carbohydrate deficient glycoprotein syndrome type iig//cdg iig//cdg syndrome type iig//cdg-iig//cdg2g//cdg2g - carbohydrate deficient glycoprotein syndrome type 2g//cdgii/cog1 cerebrocostomandibular-like syndrome//cog1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation//cog1-cdg//cog1-cdg (cdg-iig)//component of oligomeric golgi complex 1 congenital disorder of glycosylation//congenital disorder of glycosylation type 2g//congenital disorder of glycosylation type iig//congenital disorder of glycosylation, type iig	COG1	COG1	https://raresource.nih.gov/literature/disease/0010226	0010226	611209	263508	C2931011	C535756	component of oligomeric golgi complex 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG1 congenital disorder of glycosylation"	2
Cataract 31 multiple types	cataract 31, posterior polar//chmp4b early-onset non-syndromic cataract//ctrct31//early-onset non-syndromic cataract caused by mutation in chmp4b	CHMP4B	CHMP4B	https://raresource.nih.gov/literature/disease/0010227	0010227	605387		C1854311	C535343	charged multivesicular body protein 4B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 31 multiple types"	None
Cataract 11 multiple types	cataract 11//cataract 11, syndromic, autosomal recessive//ctrct11//early-onset non-syndromic cataract caused by mutation in pitx3//pitx3 early-onset non-syndromic cataract	PITX3	PITX3	https://raresource.nih.gov/literature/disease/0010228	0010228	610623		C1864567	C535344	paired like homeodomain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 11 multiple types"	None
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	autosomal dominant limb-girdle muscular dystrophy caused by mutation in lmna//autosomal dominant limb-girdle muscular dystrophy type 1b//benign scapuloperoneal muscular dystrophy with cardiomyopathy//edmd2//edmd2 - autosomal dominant emery-dreifuss muscular dystrophy//hauptmann-thannhauser muscular dystrophy//lgmd1b//limb-girdle muscular dystrophy due to lamin a/c deficiency//limb-girdle muscular dystrophy, type 1b//lmna autosomal dominant limb-girdle muscular dystrophy//lmna-related emery-dreifuss muscular dystrophy, autosomal//muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant//muscular dystrophy, limb-girdle type 1b//muscular dystrophy, proximal, type 1b//proximal muscular dystrophy type 1b//scapuloilioperoneal atrophy with cardiopathy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0010230	0010230	181350		C0410190	C535898	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-Dreifuss muscular dystrophy 2, autosomal dominant"	75
Cataract 6 multiple types	cataract (disease) caused by mutation in epha2//cataract 6, congenital total//cataract 6, posterior polar//cataract, age-related cortical, 2//ctrct6//epha2 cataract (disease)	EPHA2	EPHA2	https://raresource.nih.gov/literature/disease/0010234	0010234	116600		C1861825		EPH receptor A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 6 multiple types"	None
Biotin-responsive basal ganglia disease	bbgd//biotin-thiamine-responsive basal ganglia disease//btbgd//thiamine metabolism dysfunction syndrome 2//thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)//thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)//thiamine metabolism dysfunction syndrome type 2//thiamine transporter-2 deficiency//thiamine-responsive encephalopathy	SLC19A3	SLC19A3	https://raresource.nih.gov/literature/disease/0010237	0010237		65284	C1843807	C537658	solute carrier family 19 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Biotin-responsive basal ganglia disease"	68
H syndrome	asrar facharzt haque syndrome//faisalabad histiocytosis//histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness//histiocytosis with joint contractures and sensorineural deafness//histiocytosis-lymphadenopathy plus syndrome//hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss//hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism//pigmented hypertrichosis and insulin-dependent diabetes mellitus//pigmented hypertrichosis with insulin-dependent diabetes mellitus//rosai-dorfman disease, familial//sinus histiocytosis and massive lymphadenopathy//slc29a3 spectrum disorder	SLC29A3	SLC29A3	https://raresource.nih.gov/literature/disease/0010239	0010239	602782	168569	C1864445	C535391;C538322	solute carrier family 29 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=H syndrome"	133
Diamond-Blackfan anemia 3	dba3//diamond-blackfan anaemia caused by mutation in rps24//diamond-blackfan anaemia type 3//diamond-blackfan anemia caused by mutation in rps24//diamond-blackfan anemia type 3//rps24 diamond-blackfan anaemia//rps24 diamond-blackfan anemia//rps24-related diamond-blackfan anemia	RPS24	RPS24	https://raresource.nih.gov/literature/disease/0010241	0010241	610629		C1857719	C536355	ribosomal protein S24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 3"	None
Lipase deficiency, combined	combined lipase deficiency//familial lipase maturation factor 1 deficiency//familial lmf1 deficiency//lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency//lpl and hl deficiency//lpl and htgl deficiency	LMF1	LMF1	https://raresource.nih.gov/literature/disease/0010244	0010244	246650	535453	C1855498	C535904	lipase maturation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipase deficiency, combined"	19
Klippel-Feil syndrome	bonnevie-ullrich and klippel-feil syndrome//cervical c2/c3 vertebral fusion//cervical fusion syndrome//cervical vertebral fusion//cervical vertebral fusion autosomal dominant//cervical vertebral fusion autosomal recessive//cervical vertebral fusion syndrome//congenital dystrophia brevicollis//fusion of cervical vertebrae c2-3//kfs - klippel-feil syndrome//klippel feil syndrome autosomal dominant//klippel-feil anomaly//klippel-feil deformity//klippel-feil sequence//nielsen's disease	GDF6;GDF3;MEOX1	GDF6;GDF3;MEOX1	https://raresource.nih.gov/literature/disease/0010280	0010280		2345	C0022738	D007714	growth differentiation factor 6; growth differentiation factor 3; mesenchyme homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Klippel-Feil syndrome"	992
Axenfeld-Rieger syndrome type 1	axenfeld-rieger syndrome caused by mutation in pitx2//pitx2 axenfeld-rieger syndrome//rieg1//rieger syndrome type 1	PITX2	PITX2	https://raresource.nih.gov/literature/disease/0010281	0010281			C3714873		paired like homeodomain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Axenfeld-Rieger syndrome type 1"	1
Desmosterolosis		DHCR24	DHCR24	https://raresource.nih.gov/literature/disease/0010283	0010283	602398	35107	C1865596	C566555	24-dehydrocholesterol reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmosterolosis"	49
Self-limited epilepsy with centrotemporal spikes	bcects//becrs//bects//benign childhood epilepsy with centrotemporal spike//benign childhood epilepsy with centrotemporal spikes//benign epilepsy of childhood with centrotemporal spikes//benign epilepsy with centrotemporal spikes//benign familial epilepsy of childhood with rolandic spikes//benign rolandic epilepsy//benign rolandic epilepsy (bre)//benign rolandic epilepsy of childhood (brec)//bre//centralopathic epilepsy//centrotemporal epilepsy//centrotemporal epilepsy, isolated cases//childhood epilepsy with centrotemporal spikes//rolandic epilepsy//sylvan seizures//temporal-central focal epilepsy	GRIN2A;GABRG2	GRIN2A;GABRG2	https://raresource.nih.gov/literature/disease/0010287	0010287	117100	1945	C0376532	D019305	glutamate ionotropic receptor NMDA type subunit 2A; gamma-aminobutyric acid type A receptor subunit gamma2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Self-limited epilepsy with centrotemporal spikes"	853
Neutral lipid storage myopathy	neutral lipid storage disease with myopathy//neutral lipid storage disease with myopathy without ichthyosis//neutral lipid storage disease without ichthyosis//nlsdm	PNPLA2	PNPLA2	https://raresource.nih.gov/literature/disease/0010288	0010288	610717	98908	C1853136		patatin like domain 2, triacylglycerol lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutral lipid storage myopathy"	41
Krabbe disease due to saposin A deficiency	atypical krabbe disease due to saposin a deficiency//krabbe disease, atypical//krabbe disease, atypical due to saposin a deficiency//krabbe disease, atypical, due to saposin a deficiency//saposin a deficiency	PSAP	PSAP	https://raresource.nih.gov/literature/disease/0010289	0010289	611722		C2673266	C567097	prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Krabbe disease due to saposin A deficiency"	5
Linear nevus sebaceous syndrome	jadassohn nevus phakomatosis//linear nevus sebaceous//linear nevus sebaceus syndrome//linear sebaceous nevus//linear sebaceous nevus sequence//nevus sebaceous of jadassohn//nevus sebaceus of jadassohn//nevus sebaceus syndrome//nevus, sebaceous of jadassohn//organoid nevus//organoid nevus phakomatosis//organoid nevus syndrome//schimmelpenning syndrome//schimmelpenning-feuerstein-mims syndrome, somatic mosaic//sebaceous nevus syndrome and hemimegalencephaly//sfm syndrome//solomon syndrome	NRAS;KRAS;HRAS	NRAS;KRAS;HRAS	https://raresource.nih.gov/literature/disease/0010291	0010291	163200	2612	C4552097	D054000	NRAS proto-oncogene, GTPase; KRAS proto-oncogene, GTPase; HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear nevus sebaceous syndrome"	275
Autosomal recessive ataxia due to ubiquinone deficiency	arca2//arca2 - autosomal recessive cerebellar ataxia type 2//autosomal recessive ataxia due to coenzyme q10 deficiency//autosomal recessive cerebellar ataxia type 2//autosomal recessive spinocerebellar ataxia type 9//cabc1-related coenzyme q10 deficiency//coenzyme q10 deficiency, primary, 4//coenzyme q10 deficiency, primary, type 4//scar9//spinocerebellar ataxia, autosomal recessive 9	COQ8A	COQ8A	https://raresource.nih.gov/literature/disease/0010294	0010294	612016	139485	C2677589	C567436	coenzyme Q8A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia due to ubiquinone deficiency"	11
Syndactyly-telecanthus-anogenital and renal malformations syndrome	star//star (syndactyly, telecanthus, anogenital, renal malformation) syndrome//star syndrome//star syndrome, x-linked dominant//syndactyly with renal and anogenital malformations//syndactyly, telecanthus, anogenital and renal malformation syndrome//toe syndactyly, telecanthus, and anogenital and renal malformations	CCNQ	CCNQ	https://raresource.nih.gov/literature/disease/0010295	0010295	300707	140952	C2678045	C567475	cyclin Q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly-telecanthus-anogenital and renal malformations syndrome"	221
Chromosome 15q13.3 microdeletion syndrome	15q13.3 deletion syndrome//15q13.3 microdeletion//15q13.3 microdeletion syndrome//chromosome 15q13.3 deletion syndrome//del(15)(q13.3)//microdeletion of chromosome 15q13.3//monosomy 15q13.3	KLF13;CHRNA7	KLF13;CHRNA7	https://raresource.nih.gov/literature/disease/0010296	0010296	612001	199318	C2677613	C567439	KLF transcription factor 13; cholinergic receptor nicotinic alpha 7 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 15q13.3 microdeletion syndrome"	15
Ghosal hematodiaphyseal dysplasia	diaphyseal dysplasia anemia syndrome//diaphyseal dysplasia with anemia//diaphyseal dysplasia-anemia syndrome//ghosal hematodiaphyseal syndrome//ghosal syndrome	TBXAS1	TBXAS1	https://raresource.nih.gov/literature/disease/0010297	0010297	231095	1802	C1856465	C565551	thromboxane A synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ghosal hematodiaphyseal dysplasia"	202
22q11.2 deletion syndrome	22q11ds//catch 22//cayler cardiofacial syndrome//conotruncal anomaly face syndrome//digeorge sequence//microdeletion 22q11.2//monosomy 22q11//sedlackova syndrome//shprintzen syndrome//takao syndrome	TBX1	TBX1	https://raresource.nih.gov/literature/disease/0010299	0010299		567	CN294181		T-box transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=22q11.2 deletion syndrome"	1498
Autosomal recessive bestrophinopathy	bestrophinopathy//retinopathy burgess black type//retinopathy, burgess-black type	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0010301	0010301	611809	139455	C3888198	C567518	bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive bestrophinopathy"	139
SERKAL syndrome	46,xx sex reversal with dysgenesis of kidneys adrenals and lungs//46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs//serkal//serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome//sex reversion, kidney, adrenal and lung dysgenesis syndrome//sex reversion-kidneys, adrenal and lung dysgenesis syndrome	WNT4	WNT4	https://raresource.nih.gov/literature/disease/0010302	0010302	611812	139466	C2678492	C567517	Wnt family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SERKAL syndrome"	2
Nephrogenic syndrome of inappropriate antidiuresis	nephrogenic syndrome of inappropriate antidiuresis, x-linked recessive//nsiad//nsiad - nephrogenic syndrome of inappropriate antidiuresis	AVPR2	AVPR2	https://raresource.nih.gov/literature/disease/0010306	0010306	300539	93606	C1845202	C564491	arginine vasopressin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrogenic syndrome of inappropriate antidiuresis"	67
Immunodeficiency 67	immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency//invasive pneumococcal disease, recurrent isolated, 1//invasive pneumococcal disease, recurrent isolated, type 1//irak4 deficiency	IRAK4	IRAK4	https://raresource.nih.gov/literature/disease/0010311	0010311	607676	70592	C1843256	C564352	interleukin 1 receptor associated kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 67"	20
Neurogenic scapuloperoneal syndrome, Kaeser type	kaeser syndrome//scpnk//stark kaeser syndrome//stark-kaeser syndrome	DES	DES	https://raresource.nih.gov/literature/disease/0010312	0010312	181400	85146	C1867005	C566695	desmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurogenic scapuloperoneal syndrome, Kaeser type"	1
Scapuloperoneal spinal muscular atrophy	amyotrophy, neurogenic scapuloperoneal, new england type//neurogenic scapuloperoneal amyotrophy, new england type//scapuloperoneal form of spinal muscular atrophy//scapuloperoneal neuronopathy//scapuloperoneal spinal muscular atrophy, autosomal dominant//spsma	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0010314	0010314	181405	431255	C0751335		transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Scapuloperoneal spinal muscular atrophy"	17
Congenital multicore myopathy with external ophthalmoplegia	cmyo1b//congenital myopathy 1b, autosomal recessive//minicore myopathy//minicore myopathy with external ophthalmoplegia//minicore myopathy, antenatal onset, with arthrogryposis//multiminicore disease with external ophthalmoplegia	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0010316	0010316	255320	98905	C1850674		ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital multicore myopathy with external ophthalmoplegia"	11
Megaconial type congenital muscular dystrophy	chkb-related muscle diseases//congenital megaconial myopathy//congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect//congenital muscular dystrophy with mitochondrial structural abnormalities//mdcmc//megaconial congenital muscular dystrophy//muscular dystrophy, congenital, with mitochondrial structural abnormalities	CHKB	CHKB	https://raresource.nih.gov/literature/disease/0010317	0010317	602541	280671	C1865233	C566527	choline kinase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megaconial type congenital muscular dystrophy"	31
Corneal dystrophy, lattice type 3A	cdl3a//lattice corneal dystrophy type iii a//lattice corneal dystrophy type iiia	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0010320	0010320	608471		C1837974	C563923	transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, lattice type 3A"	2145
3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria caused by mutation in auh//3-methylglutaconic aciduria type i//3-methylglutaconyl-coa hydratase deficiency//3-methylglutaconyl-coa hydratase deficiency with 3-methylglutaconic acid//3mg-coa hydratase deficiency//auh 3-methylglutaconic aciduria//auh-gene related 3-methylglutaconic aciduria type 1//mga type i//mga1	AUH	AUH	https://raresource.nih.gov/literature/disease/0010321	0010321	250950	67046	C0342727	C562801	AU RNA binding methylglutaconyl-CoA hydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria type 1"	35
Deficiency of 2-methylbutyryl-CoA dehydrogenase	2-methylbutyric aciduria//2-methylbutyryl glycinuria//2-methylbutyryl-coa dehydrogenase deficiency//2-methylbutyryl-coenzyme a dehydrogenase deficiency disease//2-methylbutyrylglycinuria//acadsb//acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase//acyl-coa dehydrogenase, short/branched chain deficiency//butyryl-coa dehydrogenase deficiency//deficiency of 2-methylbutyryl-coenzyme a dehydrogenase//developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency//sbcad deficiency//short branched-chain acyl-coa dehydrogenase deficiency//short/branched-chain acyl-coa dehydrogenase deficiency//short/branched-chain acyl-coa dehydrogenase deficiency disease	ACADSB	ACADSB	https://raresource.nih.gov/literature/disease/0010322	0010322	610006	79157	C1864912	C566487	acyl-CoA dehydrogenase short/branched chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of 2-methylbutyryl-CoA dehydrogenase"	25
Arginine:glycine amidinotransferase deficiency	agat deficiency//ccds3//cerebral creatine deficiency syndrome 3//cerebral creatine deficiency syndrome type 3//creatine deficiency syndrome due to agat deficiency//creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency//disorder of glycine amidinotransferase activity//gatm deficiency//glycine amidinotransferase activity disease//l-arginine:glycine amidinotransferase deficiency	GATM	GATM	https://raresource.nih.gov/literature/disease/0010323	0010323	612718	35704	C2675179	C567192	glycine amidinotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arginine:glycine amidinotransferase deficiency"	41
Mild phenylketonuria	mild pku//mpku//variant phenylketonuria//variant pku	PAH	PAH	https://raresource.nih.gov/literature/disease/0010324	0010324		79253	C5680203		phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild phenylketonuria"	47
Progressive encephalopathy with leukodystrophy due to DECR deficiency	2,4-dienoyl-coa reductase deficiency//decr deficiency with hyperlysinemia//deficiency of 2,4-dienoyl-coa reductase//deficiency of 2,4-dienoyl-coenzyme a reductase	NADK2	NADK2	https://raresource.nih.gov/literature/disease/0010327	0010327	616034	431361	C1857252	C565624	NAD kinase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive encephalopathy with leukodystrophy due to DECR deficiency"	1
Tyrosinemia type III	4-alpha hydroxyphenylpyruvate dioxygenase deficiency//4-alpha hydroxyphenylpyruvic acid oxidase deficiency//4-hydroxyphenylpyruvate dioxygenase deficiency//4-hydroxyphenylpyruvate hydroxylase deficiency//4-hydroxyphenylpyruvic acid oxidase deficiency//hpd-gene related tyrosinemia type iii//tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency//tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency//tyrosinemia due to hpd deficiency//tyrosinemia type 3	HPD	HPD	https://raresource.nih.gov/literature/disease/0010332	0010332	276710	69723	C0268623		4-hydroxyphenylpyruvate dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tyrosinemia type III"	30
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	scid due to complete rag1-2 deficiency//scid due to complete rag1/2 deficiency//scid, ar, t-cell negative, b-cell negative, nk cell-positive//scid, t cell-negative, b cell-negative, nk cell-positive//severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related//severe combined immunodeficiency due to complete rag1-2 deficiency//severe combined immunodeficiency due to complete rag1/2 deficiency//severe combined immunodeficiency, b cell-negative	RAG1;RAG2	RAG1;RAG2	https://raresource.nih.gov/literature/disease/0010339	0010339	601457	331206	C1832322	C563311	recombination activating 1; recombination activating 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	None
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	meg-pmg-megacc syndrome//megalencephaly-polymicrogyria- polydactyly- hydrocephalus (mpph) syndrome//mpph (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome//mpph syndrome	PIK3R2;CCND2;AKT3	PIK3R2;CCND2;AKT3	https://raresource.nih.gov/literature/disease/0010341	0010341		83473	C4302893		phosphoinositide-3-kinase regulatory subunit 2; cyclin D2; AKT serine/threonine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	16
Spinocerebellar ataxia type 6	autosomal dominant cerebellar ataxia type iii caused by mutation in cacna1a//cacna1a autosomal dominant cerebellar ataxia type iii//sca6	CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0010351	0010351	183086	98758	C0752124		calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 6"	400
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	familial platelet disorder with associated myeloid malignancy//familial platelet disorder with predisposition to acute myelogenous leukemia//familial platelet disorder with predisposition to myeloid malignancy//familial platelet disorder with propensity to acute myeloid leukemia//familial thrombocytopenia with propensity to acute myelogenous leukemia//fpd/aml//fpdmm//fps/aml	RUNX1	RUNX1	https://raresource.nih.gov/literature/disease/0010352	0010352		71290	CN281654	C563324	RUNX family transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	202
Birk-Barel syndrome	birk barel mental retardation dysmorphism syndrome//birk-barel intellectual disability dysmorphism syndrome//birk-barel mental retardation dysmorphism syndrome//intellectual disability birk-barel type//intellectual disability, birk-barel type//intellectual disability, hypotonia, facial dysmorphism syndrome//intellectual disability-hypotonia-facial dysmorphism syndrome//kcnk9 (potassium two pore domain channel subfamily k member 9) imprinting syndrome//kcnk9 imprinting syndrome//mental retardation with hypotonia and facial dysmorphism	KCNK9	KCNK9	https://raresource.nih.gov/literature/disease/0010358	0010358	612292	166108	C2676770	C567357	potassium two pore domain channel subfamily K member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Birk-Barel syndrome"	15
Brugada syndrome 3	brgda3//brugada syndrome caused by mutation in cacna1c//brugada syndrome type 3//cacna1c brugada syndrome	CACNA1C	CACNA1C	https://raresource.nih.gov/literature/disease/0010361	0010361	611875		C2678478	C567509	calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 3"	1
Brugada syndrome 4	brgda4//brugada syndrome caused by mutation in cacnb2//brugada syndrome type 4//cacnb2 brugada syndrome	CACNB2	CACNB2	https://raresource.nih.gov/literature/disease/0010362	0010362	611876		C2678477	C567508	calcium voltage-gated channel auxiliary subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 4"	None
Nonsyndromic congenital nail disorder 1	claw-shaped nails//fzd6 inherited isolated nail anomaly//idiopathic trachyonychia//inherited isolated nail anomaly caused by mutation in fzd6//nail disorder, nonsyndromic congenital, 10//nail disorder, nonsyndromic congenital, type 10//nonsyndromic congenital nail disorder 10//nonsyndromic congenital nail disorder type 1//nonsyndromic congenital nail disorder type 10//onychauxis, hyponychia, and onycholysis//onychodystrophy totalis//onychodystrophy totalis, isolated//trachonychia//twenty nail dystrophy//twenty-nail dystrophy	FZD6	FZD6	https://raresource.nih.gov/literature/disease/0010363	0010363	161050	79153	C0406443	C562907	frizzled class receptor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nonsyndromic congenital nail disorder 1"	79
Jervell and Lange-Nielsen syndrome 2	jervell and lange-nielsen syndrome caused by mutation in kcne1//jervell and lange-nielsen syndrome type 2//jlns2//kcne1 jervell and lange-nielsen syndrome	KCNE1	KCNE1	https://raresource.nih.gov/literature/disease/0010364	0010364	612347		C2676723	C567343	potassium voltage-gated channel subfamily E regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jervell and Lange-Nielsen syndrome 2"	4
Dopa-responsive dystonia due to sepiapterin reductase deficiency	autosomal recessive sepiapterin reductase-deficient drd//drd due to srd//dyt-spr//sepiapterin reductase deficiency//spr deficiency//srd	SPR	SPR	https://raresource.nih.gov/literature/disease/0010365	0010365	612716	70594	C0268468	C562657	sepiapterin reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dopa-responsive dystonia due to sepiapterin reductase deficiency"	609
Toriello-Lacassie-Droste syndrome	aplasia cutis congenita with epibulbar dermoid syndrome//aplasia cutis congenita-epibulbar dermoids syndrome//oculoectodermal syndrome//oculoectodermal syndrome, somatic	KRAS	KRAS	https://raresource.nih.gov/literature/disease/0010366	0010366	600268	3339	C1838329	C563969	KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Toriello-Lacassie-Droste syndrome"	23
Alpha, alpha-Trehalase deficiency	diarrhea-vomiting due to trehalase deficiency//isolated trehalose intolerance//trehalase deficiency//trehalose intolerance	TREH	TREH	https://raresource.nih.gov/literature/disease/0010372	0010372	612119	103909	C0268187	C562603	trehalase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha, alpha-Trehalase deficiency"	13
Retinitis pigmentosa 12	crb1 retinitis pigmentosa//retinitis pigmentosa caused by mutation in crb1//retinitis pigmentosa type 12//retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium//rp with or without pprpe//rp with or without preserved paraarteriole retinal pigment epithelium//rp12	CRB1	CRB1	https://raresource.nih.gov/literature/disease/0010376	0010376	600105		C1838647	C563999	crumbs cell polarity complex component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 12"	19
Retinitis pigmentosa 41	prom1 retinitis pigmentosa//retinal degeneration, autosomal recessive, prominin-related//retinitis pigmentosa caused by mutation in prom1//retinitis pigmentosa type 41//rp41	PROM1	PROM1	https://raresource.nih.gov/literature/disease/0010379	0010379	612095		C2677516	C567422	prominin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 41"	None
Retinitis pigmentosa 2	retinitis pigmentosa 2, x linked//retinitis pigmentosa caused by mutation in rp2//retinitis pigmentosa type 2//rp2//rp2 retinitis pigmentosa	RP2	RP2	https://raresource.nih.gov/literature/disease/0010380	0010380	312600		C2681923	C567523	RP2 activator of ARL3 GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 2"	25
Retinitis pigmentosa 3	choroidoretinal degeneration with retinal reflex in heterozygous women//retinitis pigmentosa caused by mutation in rpgr//retinitis pigmentosa type 3//rp3//rpgr retinitis pigmentosa	RPGR	RPGR	https://raresource.nih.gov/literature/disease/0010381	0010381	300029		C1845667	C564520	retinitis pigmentosa GTPase regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 3"	1149
Retinitis pigmentosa 9	retinitis pigmentosa caused by mutation in rp9//retinitis pigmentosa type 9//rp9//rp9 retinitis pigmentosa	RP9	RP9	https://raresource.nih.gov/literature/disease/0010382	0010382	180104		C1867300	C566716	RP9 pre-mRNA splicing factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 9"	3
Retinitis pigmentosa 11	prpf31 retinitis pigmentosa//retinitis pigmentosa caused by mutation in prpf31//retinitis pigmentosa type 11//rp11	PRPF31	PRPF31	https://raresource.nih.gov/literature/disease/0010383	0010383	600138		C1838601	C563991	pre-mRNA processing factor 31	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 11"	1148
Retinitis pigmentosa 25	eys retinitis pigmentosa//retinitis pigmentosa caused by mutation in eys//retinitis pigmentosa type 25//rp25	EYS	EYS	https://raresource.nih.gov/literature/disease/0010384	0010384	602772		C1864446	C566425	eyes shut homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 25"	6
Retinitis pigmentosa 14	retinitis pigmentosa caused by mutation in tulp1//retinitis pigmentosa type 14//retinitis pigmentosa, juvenile, tulp1-related//rp14//tulp1 retinitis pigmentosa	TULP1	TULP1	https://raresource.nih.gov/literature/disease/0010385	0010385	600132		C1838603		TUB like protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 14"	2
Retinitis pigmentosa 7	retinitis pigmentosa type 7//rp 7//rp7	ROM1;PRPH2	ROM1;PRPH2	https://raresource.nih.gov/literature/disease/0010386	0010386	608133		C1842475		retinal outer segment membrane protein 1; peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 7"	1
Retinitis pigmentosa 13	prpf 8-related retinitis pigmentosa//prpf8 retinitis pigmentosa//retinitis pigmentosa caused by mutation in prpf8//retinitis pigmentosa type 13//rp13	PRPF8	PRPF8	https://raresource.nih.gov/literature/disease/0010388	0010388	600059		C1838702	C564008	pre-mRNA processing factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 13"	3
Retinitis pigmentosa 23	ofd1 retinitis pigmentosa//retinitis pigmentosa 23, x-linked recessive//retinitis pigmentosa caused by mutation in ofd1//retinitis pigmentosa type 23//rp23	OFD1	OFD1	https://raresource.nih.gov/literature/disease/0010391	0010391	300424		C1419610		OFD1 centriole and centriolar satellite protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 23"	2
Retinitis pigmentosa 18	prpf 3-related retinitis pigmentosa//prpf3 retinitis pigmentosa//retinitis pigmentosa caused by mutation in prpf3//retinitis pigmentosa type 18//rp18	PRPF3	PRPF3	https://raresource.nih.gov/literature/disease/0010392	0010392	601414		C1832378	C563320	pre-mRNA processing factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 18"	2
Retinitis pigmentosa 28	fam161a retinitis pigmentosa//retinitis pigmentosa caused by mutation in fam161a//retinitis pigmentosa type 28//rp28	FAM161A	FAM161A	https://raresource.nih.gov/literature/disease/0010394	0010394	606068		C1419614		FAM161 centrosomal protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 28"	4
Retinitis pigmentosa 32	retinitis pigmentosa type 32//rp32	CLCC1	CLCC1	https://raresource.nih.gov/literature/disease/0010395	0010395	609913		C1835927	C563689	chloride channel CLIC like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 32"	None
Retinitis pigmentosa 31	retinitis pigmentosa caused by mutation in topors//retinitis pigmentosa type 31//rp31//topors retinitis pigmentosa	TOPORS	TOPORS	https://raresource.nih.gov/literature/disease/0010396	0010396	609923		C1835923	C563685	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 31"	None
Retinitis pigmentosa 26	cerkl retinitis pigmentosa//retinitis pigmentosa caused by mutation in cerkl//retinitis pigmentosa type 26//rp26	CERKL	CERKL	https://raresource.nih.gov/literature/disease/0010397	0010397	608380		C1842127	C564249	CERK like autophagy regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 26"	1290
Retinitis pigmentosa 19	abca4 retinitis pigmentosa//abca4-related retinitis pigmentosa//retinitis pigmentosa caused by mutation in abca4//retinitis pigmentosa type 19//rp19	ABCA4	ABCA4	https://raresource.nih.gov/literature/disease/0010398	0010398	601718		C1866422	C566637	ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 19"	3
Retinitis pigmentosa 33	retinitis pigmentosa caused by mutation in snrnp200//retinitis pigmentosa type 33//rp33//snrnp200 retinitis pigmentosa	SNRNP200	SNRNP200	https://raresource.nih.gov/literature/disease/0010400	0010400	610359		C1835895	C563676	small nuclear ribonucleoprotein U5 subunit 200	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 33"	2
Retinitis pigmentosa 30	fscn2 retinitis pigmentosa//retinitis pigmentosa caused by mutation in fscn2//retinitis pigmentosa type 30//rp30	FSCN2	FSCN2	https://raresource.nih.gov/literature/disease/0010401	0010401	607921		C1842816		fascin actin-bundling protein 2, retinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 30"	None
Retinitis pigmentosa 35	retinitis pigmentosa caused by mutation in sema4a//retinitis pigmentosa type 35//rp35//sema4a retinitis pigmentosa	SEMA4A	SEMA4A	https://raresource.nih.gov/literature/disease/0010402	0010402	610282		C1853214	C565206	semaphorin 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 35"	None
Retinitis pigmentosa 36	prcd retinitis pigmentosa//retinitis pigmentosa caused by mutation in prcd//retinitis pigmentosa type 36//rp36	PRCD	PRCD	https://raresource.nih.gov/literature/disease/0010403	0010403	610599		C1864621	C566431	photoreceptor disc component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 36"	None
Retinitis pigmentosa 20	retinitis pigmentosa caused by mutation in rpe65//retinitis pigmentosa type 20//rp20//rpe65 retinitis pigmentosa	RPE65	RPE65	https://raresource.nih.gov/literature/disease/0010404	0010404	613794		C3151086	C566718	retinoid isomerohydrolase RPE65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 20"	1
Retinitis pigmentosa 4	retinitis pigmentosa 4, autosomal dominant or recessive//retinitis pigmentosa caused by mutation in rho//retinitis pigmentosa type 4//retinitis pigmentosa, rhodopsin-related//rho retinitis pigmentosa//rp4	RHO	RHO	https://raresource.nih.gov/literature/disease/0010405	0010405	613731		C3151001	C566706	rhodopsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 4"	None
Ovarian small cell carcinoma	ovarian small cell cancer//ovarian small cell nec//ovarian small cell neuroendocrine carcinoma//ovary small cell carcinoma//scco//small cell carcinoma of ovary//small cell carcinoma of the ovary//small cell ovarian carcinoma	SMARCA4	SMARCA4	https://raresource.nih.gov/literature/disease/0010411	0010411		370396	C2212006		SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian small cell carcinoma"	232
Homozygous familial hypercholesterolemia	familial homozygous hypercholesterolemia//familial hypercholesterolemia - homozygous//hofh	APOB;LDLRAP1;LDLR;PCSK9	APOB;LDLRAP1;LDLR;PCSK9	https://raresource.nih.gov/literature/disease/0010416	0010416		391665	C0342881	D000090542	apolipoprotein B; low density lipoprotein receptor adaptor protein 1; low density lipoprotein receptor; proprotein convertase subtilisin/kexin type 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Homozygous familial hypercholesterolemia"	725
CARASIL syndrome	carasil//cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2//cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy//cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy//cerebrovascular disease with thin skin, alopecia, and disc disease//maeda syndrome//nemoto disease//subcortical vascular encephalopathy, progressive	HTRA1	HTRA1	https://raresource.nih.gov/literature/disease/0010424	0010424	600142	199354	C1838577	C563990	HtrA serine peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CARASIL syndrome"	109
Hypohidrotic X-linked ectodermal dysplasia	anhidrotic ectodermal dysplasia x-linked//christ siemens touraine syndrome//christ-siemans-touraine syndrome//christ-siemens-touraine syndrome//cst - christ-siemens-touraine syndrome//cst syndrome//ectodermal dysplasia 1//ectodermal dysplasia 1, anhidrotic//ectodermal dysplasia 1, hypohidrotic, x-linked//ectodermal dysplasia 1, hypohidrotic, x-linked, x-linked recessive//ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked//ectodermal dysplasia, hypohidrotic, 1//hypohidrotic ectodermal dysplasia, x-linked//hypohidrotic ectodermal dysplasia, x-linked (xlhed)//x-linked anhidrotic ectodermal dysplasia//x-linked hypohidrotic ectodermal dysplasia//xhed	EDA	EDA	https://raresource.nih.gov/literature/disease/0010427	0010427	305100	181	C0162359	D053358	ectodysplasin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypohidrotic X-linked ectodermal dysplasia"	341
Brachyrachia (short spine dysplasia)	autosomal dominant brachyolmia//bcym3//brachyolmia type 3//brachyolmia, autosomal dominant	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0010429	0010429	113500	93304	C0432227		transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachyrachia (short spine dysplasia)"	11
Severe myoclonic epilepsy in infancy	dravet//dravet syndrome//drvt//ds//epileptic encephalopathy, early infantile, 6 (dravet syndrome)//myoclonic epilepsy, severe, of infancy//severe myoclonic epilepsy of infancy//severe myoclonus epilepsy of infancy//sme//smeb//smei	SCN1A	SCN1A	https://raresource.nih.gov/literature/disease/0010430	0010430		33069	C0751122		sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe myoclonic epilepsy in infancy"	53
Long QT syndrome 5	kcne1 long qt syndrome//long qt syndrome caused by mutation in kcne1//long qt syndrome type 5//lqt5	KCNE1	KCNE1	https://raresource.nih.gov/literature/disease/0010433	0010433	613695		C1867904	C566766	potassium voltage-gated channel subfamily E regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 5"	14
Long QT syndrome 6	kcne2 long qt syndrome//long qt syndrome caused by mutation in kcne2//long qt syndrome type 6//lqt6	KCNE2	KCNE2	https://raresource.nih.gov/literature/disease/0010434	0010434	613693		C3150953	C566333	potassium voltage-gated channel subfamily E regulatory subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 6"	6
Long QT syndrome 9	cav3 long qt syndrome//long qt syndrome caused by mutation in cav3//long qt syndrome type 9//lqt9	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0010435	0010435	611818		C2678485	C567515	caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 9"	7
Long QT syndrome 10	long qt syndrome caused by mutation in scn4b//long qt syndrome type 10//lqt10//scn4b long qt syndrome	SCN4B	SCN4B	https://raresource.nih.gov/literature/disease/0010436	0010436	611819		C2678484	C567514	sodium voltage-gated channel beta subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 10"	94
Long QT syndrome 11	akap9 long qt syndrome//long qt syndrome caused by mutation in akap9//long qt syndrome type 11//lqt11	AKAP9	AKAP9	https://raresource.nih.gov/literature/disease/0010437	0010437	611820		C2678483	C567513	A-kinase anchoring protein 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 11"	1
Deficiency of transaldolase	deficiency of dihydroxyacetonetransferase//deficiency of glycerone-transferase//eyaid syndrome//taldo deficiency//transaldolase deficiency	TALDO1	TALDO1	https://raresource.nih.gov/literature/disease/0010445	0010445	606003	101028	C1291329	C563207	transaldolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of transaldolase"	55
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	cerebral palsy, spastic quadriplegic, 1//cerebral palsy, spastic quadriplegic, type 1//infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome//nedswma	HPDL	HPDL	https://raresource.nih.gov/literature/disease/0010447	0010447	619026	641353	C5436628	C567853	4-hydroxyphenylpyruvate dioxygenase like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	2
Perry syndrome	parkinsonism with alveolar hypoventilation and mental depression	DCTN1	DCTN1	https://raresource.nih.gov/literature/disease/0010453	0010453	168605	178509	C1868594	C566822	dynactin subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perry syndrome"	73
Permanent neonatal diabetes mellitus	abcc8-related permanent neonatal diabetes mellitus//ins-related permanent neonatal diabetes mellitus//isolated permanent neonatal diabetes mellitus//isolated pndm//kcnj11-related permanent neonatal diabetes mellitus//monogenic diabetes of infancy//pdmi//pdx1-related permanent neonatal diabetes mellitus//permanent diabetes mellitus of infancy//pndm	INS;ABCC8;PDX1;GCK;KCNJ11;STAT3	INS;ABCC8;PDX1;GCK;KCNJ11;STAT3	https://raresource.nih.gov/literature/disease/0010457	0010457		99885	C1833104	C563425	insulin; ATP binding cassette subfamily C member 8; pancreatic and duodenal homeobox 1; glucokinase; potassium inwardly rectifying channel subfamily J member 11; signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Permanent neonatal diabetes mellitus"	234
GCGR-related hyperglucagonemia	alpha-cell hyperplasia with glucagonemia//glucagon receptor-related hyperglucagonemia//mahvash disease//mvah//nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor//nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour//nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor//nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour	GCGR	GCGR	https://raresource.nih.gov/literature/disease/0010460	0010460	619290	438274	C4763635		glucagon receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GCGR-related hyperglucagonemia"	20
Spinocerebellar ataxia type 17	cerebelloparenchymal disorder ii//cpd2//hdl4//huntington disease-like 4//olivopontocerebellar atrophy 5//olivopontocerebellar atrophy type 5//olivopontocerebellar atrophy v//opca v//opca with dementia and extrapyramidal signs//sca 17//sca17//spinocerebellar ataxia 17	TBP	TBP	https://raresource.nih.gov/literature/disease/0010469	0010469	607136	98759	C1846707	C563505;C564616;C565866	TATA-box binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 17"	131
Autosomal recessive limb-girdle muscular dystrophy type 2G	autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap//lgmd due to telethonin deficiency//lgmd type 2g//lgmd2g//lgmdr7//limb girdle muscular dystrophy due to telethonin deficiency//limb-girdle muscular dystrophy due to telethonin deficiency//limb-girdle muscular dystrophy type 2g//limb-girdle muscular dystrophy, type 2g//muscular dystrophy, limb-girdle, autosomal recessive 7//muscular dystrophy, limb-girdle, type 2g//tcap autosomal recessive limb-girdle muscular dystrophy//telethonin-related lgmd r7//telethonin-related limb-girdle muscular dystrophy r7//telethoninopathy	TCAP	TCAP	https://raresource.nih.gov/literature/disease/0010471	0010471	601954	34514	C1866008	C566599	titin-cap	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2G"	31
L-2-hydroxyglutaric aciduria	l-2(oh) glutaric aciduria//l-2-hga//l-2-hydroxyglutaric acidemia//l2hga	L2HGDH	L2HGDH	https://raresource.nih.gov/literature/disease/0010472	0010472	236792	79314	C1855995		L-2-hydroxyglutarate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=L-2-hydroxyglutaric aciduria"	189
Spinocerebellar ataxia type 10	sca10	ATXN10	ATXN10	https://raresource.nih.gov/literature/disease/0010474	0010474	603516	98761	C1963674	C566874	ataxin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 10"	105
Spinocerebellar ataxia type 11	sca11	TTBK2	TTBK2	https://raresource.nih.gov/literature/disease/0010475	0010475	604432	98767	C1858351	C565772	tau tubulin kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 11"	25
Spinocerebellar ataxia type 12	sca12	PPP2R2B	PPP2R2B	https://raresource.nih.gov/literature/disease/0010476	0010476	604326	98762	C1858501	C565790	protein phosphatase 2 regulatory subunit Bbeta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 12"	64
Spinocerebellar ataxia type 15/16	sca15//sca15/16//scar16//spinocerebellar ataxia type 15//spinocerebellar ataxia type 16	ITPR1	ITPR1	https://raresource.nih.gov/literature/disease/0010477	0010477	606658	98769	C1847725	C564685	inositol 1,4,5-trisphosphate receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 15/16"	37
Spinocerebellar ataxia type 29	cerebellar ataxia, congenital nonprogressive, autosomal dominant//congenital nonprogressive spinocerebellar ataxia//sca29//spinocerebellar ataxia 29, congenital nonprogressive	ITPR1	ITPR1	https://raresource.nih.gov/literature/disease/0010480	0010480	117360	208513	C1861732	C537206	inositol 1,4,5-trisphosphate receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 29"	13
Parkinsonism-dystonia, infantile	dopamine transporter deficiency syndrome//infantile dystonia parkinsonism//infantile dystonia-parkinsonism//infantile parkinsonism-dystonia//ipd//pkdys	SLC6A3	SLC6A3	https://raresource.nih.gov/literature/disease/0010484	0010484		238455	C2751067	C567730	solute carrier family 6 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinsonism-dystonia, infantile"	3011
Craniopharyngioma	adamantinomatous tumor//craniopharyngeal duct tumor//craniopharyngioma (morphologic abnormality)//craniopharyngioma (who grade i)//craniopharyngioma, benign//dysodontogenic epithelial tumor//neoplasm of rathke's pouch//rathke pouch neoplasm//rathke pouch tumor//rathke pouch tumour//rathke's pouch neoplasm//rathke's pouch tumor//rathke's pouch tumour//tumor of rathke's pouch//tumour of rathke's pouch	BRAF;CTNNB1	BRAF;CTNNB1	https://raresource.nih.gov/literature/disease/0010486	0010486		54595	C0010276	D003397	B-Raf proto-oncogene, serine/threonine kinase; catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniopharyngioma"	179
Leber congenital amaurosis 10	cep290 leber congenital amaurosis//cep290-related leber congenital amaurosis//lca10//leber congenital amaurosis caused by mutation in cep290//leber congenital amaurosis type 10	CEP290	CEP290	https://raresource.nih.gov/literature/disease/0010487	0010487	611755		C1857821	C565720	centrosomal protein 290	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 10"	10
Leber congenital amaurosis 11	impdh1 leber congenital amaurosis//impdh1-related leber congenital amaurosis//lca11//leber congenital amaurosis caused by mutation in impdh1//leber congenital amaurosis type 11	IMPDH1	IMPDH1	https://raresource.nih.gov/literature/disease/0010488	0010488	613837		C1840284	C564140	inosine monophosphate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 11"	2
Leber congenital amaurosis 12	lca12//leber congenital amaurosis caused by mutation in rd3//leber congenital amaurosis type 12//rd3 leber congenital amaurosis//rd3-related leber congenital amaurosis	RD3	RD3	https://raresource.nih.gov/literature/disease/0010489	0010489	610612		C1857743	C565697	RD3 regulator of GUCY2D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 12"	8
Leber congenital amaurosis 6	lca6//leber congenital amaurosis caused by mutation in rpgrip1//leber congenital amaurosis type 6//rpgrip1 leber congenital amaurosis//rpgrip1-related leber congenital amaurosis	RPGRIP1	RPGRIP1	https://raresource.nih.gov/literature/disease/0010490	0010490	613826		C1854260	C565327	RPGR interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 6"	3
Amyotrophic lateral sclerosis type 11	als11//amyotrophic lateral sclerosis 11//amyotrophic lateral sclerosis caused by mutation in fig4//fig4 amyotrophic lateral sclerosis//fig4-related amyotrophic lateral sclerosis	FIG4	FIG4	https://raresource.nih.gov/literature/disease/0010496	0010496	612577		C2675491	C567244	FIG4 phosphoinositide 5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 11"	1
Amyotrophic lateral sclerosis type 9	als9//als9 - amyotrophic lateral sclerosis type 9//amyotrophic lateral sclerosis 9//amyotrophic lateral sclerosis caused by mutation in ang//ang amyotrophic lateral sclerosis//ang-related amyotrophic lateral sclerosis	ANG	ANG	https://raresource.nih.gov/literature/disease/0010498	0010498	611895		C2678468	C567499	angiogenin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 9"	None
Amyotrophic lateral sclerosis type 8	als8//als8 - amyotrophic lateral sclerosis type 8//amyotrophic lateral sclerosis 8//amyotrophic lateral sclerosis caused by mutation in vapb//vapb amyotrophic lateral sclerosis//vapb-related amyotrophic lateral sclerosis	VAPB	VAPB	https://raresource.nih.gov/literature/disease/0010499	0010499	608627		C1837728	C563895	VAMP associated protein B and C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 8"	43
Amyotrophic lateral sclerosis type 4	als 4//als4//als4 - amyotrophic lateral sclerosis type 4//amyotrophic lateral sclerosis 4//amyotrophic lateral sclerosis 4, juvenile//amyotrophic lateral sclerosis caused by mutation in setx//dhmn (distal hereditary motor neuropathy) with upper motor neuron signs//dhmn with upper motor neuron signs//distal hereditary motor neuropathy with pyramidal features//distal hereditary motor neuropathy with upper motor neuron signs//neuronopathy, distal hereditary motor, with pyramidal features//setx amyotrophic lateral sclerosis//setx-related amyotrophic lateral sclerosis	SETX	SETX	https://raresource.nih.gov/literature/disease/0010502	0010502	602433	357043	C1865409	C566550	senataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 4"	45
Craniorachischisis	cranial rachischisis//craniorachischisis (disease)	DACT1	DACT1	https://raresource.nih.gov/literature/disease/0010504	0010504		63260	C0152426		dishevelled binding antagonist of beta catenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniorachischisis"	137
Bartter syndrome type 4	bartter syndrome type iv//bartter syndrome with sensorineural deafness//bartter syndrome with sensorineural hearing loss//bartter's syndrome type 4//infantile bartter syndrome with sensorineural deafness	CLCNKA;BSND;CLCNKB	CLCNKA;BSND;CLCNKB	https://raresource.nih.gov/literature/disease/0010508	0010508		89938	C3838860		chloride voltage-gated channel Ka; barttin CLCNK type accessory subunit beta; chloride voltage-gated channel Kb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter syndrome type 4"	22
Acquired partial lipodystrophy	apld//barraquer syndrome//barraquer-simons disease//barraquer-simons syndrome//hollander-simons syndrome//lipodystrophic diabetes with partial lipoatrophy//lipodystrophy cephalothoracic type//lipodystrophy, partial, progressive//macrodystrophia lipomatosa progressiva//partial acquired lipodystrophy//partial lipoatrophy//progressive cephalothoracic lipodystrophy//progressive lipodystrophy//progressive partial lipodystrophy	LMNB2	LMNB2	https://raresource.nih.gov/literature/disease/0010509	0010509	608709	79087	C0220989	C562448	lamin B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acquired partial lipodystrophy"	155
Juvenile Huntington disease	jhd//juvenile huntington chorea//juvenile onset huntington disease//juvenile onset huntington's disease	HTT	HTT	https://raresource.nih.gov/literature/disease/0010510	0010510		248111	C0751208		huntingtin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile Huntington disease"	77
Spondyloepimetaphyseal dysplasia, aggrecan type	semd, aggrecan type	ACAN	ACAN	https://raresource.nih.gov/literature/disease/0010513	0010513	612813	171866	C2748544	C567558	aggrecan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, aggrecan type"	None
EAST syndrome	east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome//epilepsy, ataxia, sensorineural deafness and tubulopathy//epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome//epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome//seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome//seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance//seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance//seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance//seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome//seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome//seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome//sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome//sesame syndrome//sesames	KCNJ10	KCNJ10	https://raresource.nih.gov/literature/disease/0010514	0010514	612780	199343	C2748572	C557674	potassium inwardly rectifying channel subfamily J member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EAST syndrome"	34
Sterile multifocal osteomyelitis with periostitis and pustulosis	autoinflammatory disease due to interleukin-1 receptor antagonist deficiency//chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis//deficiency of the interleukin-1 receptor antagonist//dira//interleukin 1 receptor antagonist deficiency//interleukin-1 receptor antagonist deficiency//ompp//ompp - sterile osteomyelitis, multifocal with periostitis and pustulosis	IL1RN	IL1RN	https://raresource.nih.gov/literature/disease/0010516	0010516	612852	210115	C2748507	C557815	interleukin 1 receptor antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sterile multifocal osteomyelitis with periostitis and pustulosis"	44
Orofaciodigital syndrome IX	ofd9//ofds ix//oral-facial-digital syndrome type 9//oral-facial-digital syndrome with retinal abnormalities//oral-facial-digital syndrome, type ix//oro-facial digital syndrome type 9//orofaciodigital syndrome type 9//orofaciodigital syndrome type ix//orofaciodigital syndrome with retinal abnormalities//orofaciodigital syndrome with retinal abnormality	TBC1D32	TBC1D32	https://raresource.nih.gov/literature/disease/0010520	0010520	258865	141007	C0796102	C557818	TBC1 domain family member 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome IX"	4
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome//mitochondrial complex deficiency, combined//myopathy with cataract and combined respiratory-chain deficiency//myopathy, mitochondrial progressive, with congenital cataract and developmental delay	GFER	GFER	https://raresource.nih.gov/literature/disease/0010522	0010522	613076	330054	C2751320	C567769	growth factor, augmenter of liver regeneration	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"	283
Combined immunodeficiency due to STIM1 deficiency	cid due to stim1 deficiency//immunodeficiency 10//immunodeficiency type 10//stim1 deficiency	STIM1	STIM1	https://raresource.nih.gov/literature/disease/0010523	0010523	612783	317430	C2748557	C557827	stromal interaction molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to STIM1 deficiency"	30
Combined immunodeficiency due to ORAI1 deficiency	cid due to orai1 deficiency//immunodeficiency 9//immunodeficiency type 9	ORAI1	ORAI1	https://raresource.nih.gov/literature/disease/0010524	0010524	612782	317428	C2748568	C557826	ORAI calcium release-activated calcium modulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to ORAI1 deficiency"	None
X-linked dystonia-parkinsonism	dystonia-parkinsonism, x-linked, x-linked recessive//dyt-taf1//dyt3//lubag//lubag syndrome//torsion dystonia parkinsonism filipino type//torsion dystonia-parkinsonism, filipino type//x-linked dystonia-parkinsonism syndrome//x-linked torsion dystonia parkinsonism syndrome//xdp//xdp - x-linked dystonia parkinsonism	TAF1	TAF1	https://raresource.nih.gov/literature/disease/0010533	0010533	314250	53351	C1839130	C564048	TATA-box binding protein associated factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked dystonia-parkinsonism"	194
Hereditary spastic paraplegia 35	autosomal recessive spastic paraplegia 35//autosomal recessive spastic paraplegia type 35//fa2h hereditary spastic paraplegia//hereditary spastic paraplegia caused by mutation in fa2h//hereditary spastic paraplegia type 35//leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia//leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia//spastic paraplegia 35//spastic paraplegia 35, autosomal recessive//spastic paraplegia 35, autosomal recessive, with or without neurodegeneration//spg35	FA2H	FA2H	https://raresource.nih.gov/literature/disease/0010538	0010538	612319	171629	C3496228	C567311	fatty acid 2-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 35"	16
Dystonia 16	dystonia type 16//dystonic disorder caused by mutation in prkra//dyt-prkra//dyt16//early-onset dystonia parkinsonism//prkra dystonic disorder	PRKRA	PRKRA	https://raresource.nih.gov/literature/disease/0010539	0010539	612067	210571	C2677567	C567430	protein activator of interferon induced protein kinase EIF2AK2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 16"	8
Childhood onset GLUT1 deficiency syndrome 2	childhood onset glut1 deficiency syndrome type 2//dystonia 18//dyt18//glut1 deficiency syndrome 2//glut1 deficiency syndrome 2, childhood onset//glut1 deficiency syndrome type 2//paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia//paroxysmal exercise-induced dystonia//paroxysmal exertion-induced dyskinesia//paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia//ped//ped with or without epilepsy and/or hemolytic anemia//pxmd-slc2a1	SLC2A1	SLC2A1	https://raresource.nih.gov/literature/disease/0010541	0010541	612126	98811	C1842534	C564288	solute carrier family 2 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood onset GLUT1 deficiency syndrome 2"	1304
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly		TMEM147	TMEM147	https://raresource.nih.gov/literature/disease/0010565	0010565	620075		C5774232		transmembrane protein 147	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly"	None
Christianson syndrome	intellectual developmental disorder, x-linked syndromic, christianson type//intellectual developmental disorder, x-linked, syndromic, christianson type//intellectual disability, microcephaly, epilepsy, and ataxia syndrome//intellectual disability, x-linked syndromic, christianson type//mental retardation, microcephaly, epilepsy, and ataxia syndrome//mental retardation, x-linked syndromic, christianson type//mrxsch//slc9a6-related syndromic mental retardation//x-linked angelman-like syndrome//x-linked intellectual developmental disorder christianson type//x-linked intellectual disability, south african type//x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome//x-linked mental retardation, syndromic, christianson type	SLC9A6	SLC9A6	https://raresource.nih.gov/literature/disease/0010572	0010572	300243	85278	C2678194	C567484	solute carrier family 9 member A6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Christianson syndrome"	69
Aland island eye disease	aied//forsius eriksson type ocular albinism//forsius-eriksson syndrome//forsius-eriksson type ocular albinism//åland islands eye disease	CACNA1F	CACNA1F	https://raresource.nih.gov/literature/disease/0010574	0010574	300600	178333	C0268505	C562664	calcium voltage-gated channel subunit alpha1 F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aland island eye disease"	130
Hyper-IgM syndrome type 2	activation-induced cytidine deaminase deficiency//aicda hyper-igm syndrome//aid deficiency//higm2//hyper-igm immunodeficiency syndrome, type 2//hyper-igm syndrome caused by mutation in aicda	AICDA	AICDA	https://raresource.nih.gov/literature/disease/0010578	0010578	605258	101089	C1720956		activation induced cytidine deaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgM syndrome type 2"	43
Hyper-IgM syndrome type 3	cd40 hyper-igm syndrome//higm3//hyper-igm immunodeficiency syndrome, type 3//hyper-igm syndrome caused by mutation in cd40//hyper-igm syndrome due to cd40 deficiency//immunodeficiency with hyper-igm type 3//type 3 hyper-igm immunodeficiency	CD40	CD40	https://raresource.nih.gov/literature/disease/0010579	0010579	606843	101090	C1720957		CD40 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgM syndrome type 3"	5
Hyper-IgM syndrome type 5	autosomal recessive hyperimmunoglobulin m syndrome due to ung deficiency//autosomal recessive hyperimmunoglobulin m syndrome due to uracil dna glycosylase deficiency//higm5//hyper-igm immunodeficiency syndrome, type 5//hyper-igm syndrome 5//hyper-igm syndrome caused by mutation in ung//hyper-igm syndrome due to ung//hyper-igm syndrome due to ung deficiency//hyper-igm syndrome due to uracil n-glycosylase//immunodeficiency with hyper igm, type 5//ung hyper-igm syndrome	UNG	UNG	https://raresource.nih.gov/literature/disease/0010581	0010581	608106	101092	C1720958		uracil DNA glycosylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgM syndrome type 5"	None
Neonatal ichthyosis-sclerosing cholangitis syndrome	ichthyosis, hypotrichosis, sclerosing cholangitis syndrome//ichthyosis-hypotrichosis-sclerosing cholangitis syndrome//ichthyosis-sclerosing cholangitis syndrome//ihsc//ilvasc//neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome//nisch (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome//nisch syndrome	CLDN1	CLDN1	https://raresource.nih.gov/literature/disease/0010583	0010583	607626	59303	C1843355	C564365	claudin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal ichthyosis-sclerosing cholangitis syndrome"	19
Chronic neutrophilic leukemia	neutrophilic leukaemia//neutrophilic leukemia	CSF3R	CSF3R	https://raresource.nih.gov/literature/disease/0010585	0010585		86829	C0023481	D015467	colony stimulating factor 3 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic neutrophilic leukemia"	5701
Loeys-Dietz syndrome 2	aortic aneurysm, familial thoracic 3//lds2//loeys-dietz syndrome caused by mutation in tgfbr2//loeys-dietz syndrome type 2//loeys-dietz syndrome type ii//marfan like connective tissue disorder//marfan syndrome type 2//marfan syndrome, type 2 (formerly)//marfan syndrome, type ii//mfs 2//tgfbr2 loeys-dietz syndrome//tgfbr2-related loeys-dietz syndrome//tgfbr2-related thoracic aortic aneurysms and aortic dissections	TGFBR2	TGFBR2	https://raresource.nih.gov/literature/disease/0010586	0010586	610168		C2674574	C537783	transforming growth factor beta receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-Dietz syndrome 2"	57
Adult-onset autosomal dominant demyelinating leukodystrophy	adld//adult-onset autosomal dominant leukodystrophy//autosomal-dominant or late-onset type pelizaeus-merzbacher disease//leukodystrophy, adult-onset, autosomal dominant	LMNB1	LMNB1	https://raresource.nih.gov/literature/disease/0010587	0010587		99027	C1868512	C566813	lamin B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset autosomal dominant demyelinating leukodystrophy"	92
Loeys-Dietz syndrome 4	aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations//lds4//loeys-dietz syndrome caused by mutation in tgfb2//loeys-dietz syndrome type 4//tgfb2 loeys-dietz syndrome//tgfb2-related loeys-dietz syndrome	TGFB2	TGFB2	https://raresource.nih.gov/literature/disease/0010588	0010588	614816		C3553762		transforming growth factor beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-Dietz syndrome 4"	8
Mesoaxial synostotic syndactyly with phalangeal reduction	mesoaxial synostotic syndactyly with phalangeal reduction syndrome//mssd//syndactyly malik percin type//syndactyly type 9//syndactyly, malik-percin type	BHLHA9	BHLHA9	https://raresource.nih.gov/literature/disease/0010590	0010590	609432	157801	C1836206	C563721	basic helix-loop-helix family member a9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mesoaxial synostotic syndactyly with phalangeal reduction"	8
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins//infantile liver failure caused by mutation in trmu//lfit//liver failure acute infantile//liver failure, infantile, transient//liver failure, transient infantile//transient infantile liver failure//trmu infantile liver failure	TRMU	TRMU	https://raresource.nih.gov/literature/disease/0010593	0010593	613070	217371	C3278664		tRNA mitochondrial 2-thiouridylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"	1
Cerebral folate transport deficiency	cerebral folate deficiency//cerebral folate deficiency syndrome//cerebral folate receptor alpha deficiency//folate receptor deficiency//neurodegeneration due to cerebral folate transport deficiency//neurodegenerative syndrome due to cerebral folate transport deficiency	FOLR1	FOLR1	https://raresource.nih.gov/literature/disease/0010594	0010594	613068	217382	C2751584	C567791	folate receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral folate transport deficiency"	471
BNAR syndrome	bifid nose with or without anorectal and renal anomalies//bifid nose, anorectal anomaly, renal anomaly syndrome//bnar (bifid nose, anorectal anomaly, renal anomaly) syndrome	FREM1	FREM1	https://raresource.nih.gov/literature/disease/0010595	0010595	608980	217266	C2750433	C567672	FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BNAR syndrome"	3
Complete androgen insensitivity syndrome	cais//cais - complete androgen insensitivity syndrome//complete androgen resistance syndrome	AR	AR	https://raresource.nih.gov/literature/disease/0010597	0010597		99429	C0936016		androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complete androgen insensitivity syndrome"	441
Pituitary hormone deficiency, combined, 1	combined pituitary hormone deficiencies, genetic form caused by mutation in pou1f1//cphd1//pituitary hormone deficiency, combined or isolated, 1//pou1f1 combined pituitary hormone deficiencies, genetic form//pou1f1-related combined pituitary hormone deficiency	POU1F1	POU1F1	https://raresource.nih.gov/literature/disease/0010601	0010601	613038		C2751608	C567803	POU class 1 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary hormone deficiency, combined, 1"	2
Combined pituitary hormone deficiencies, genetic form	combined pituitary hormone deficiencies, genetic forms//combined pituitary hormone deficiency genetic form//familial congenital hypopituitarism//genetic hypopituitarism//multiple pituitary hormone deficiencies, genetic forms//multiple pituitary hormone deficiency genetic form//pituitary hormone deficiency, combined	GLI2;PROP1;POU1F1;LHX4;HESX1;FOXA2;OTX2	GLI2;PROP1;POU1F1;LHX4;HESX1;FOXA2;OTX2	https://raresource.nih.gov/literature/disease/0010602	0010602		95494	C4273747		GLI family zinc finger 2; PROP paired-like homeobox 1; POU class 1 homeobox 1; LIM homeobox 4; HESX homeobox 1; forkhead box A2; orthodenticle homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined pituitary hormone deficiencies, genetic form"	6
Non-acquired combined pituitary hormone deficiency with spine abnormalities	combined pituitary hormone deficiency type 3//cphd3//lhx3-related combined pituitary hormone deficiency//non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome//non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome//pituitary hormone deficiency, combined, type 3//wbp syndrome//winkelman bethge pfeiffer syndrome	LHX3	LHX3	https://raresource.nih.gov/literature/disease/0010603	0010603	221750	231720	C3489787	C536710	LIM homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-acquired combined pituitary hormone deficiency with spine abnormalities"	3
Short stature-pituitary and cerebellar defects-small sella turcica syndrome	cphd4//lhx4-related combined pituitary hormone deficiency//pituitary hormone deficiency, combined with or without cerebellar defects//pituitary hormone deficiency, combined, type 4//short stature, pituitary and cerebellar defects and small sella turcica	LHX4	LHX4	https://raresource.nih.gov/literature/disease/0010604	0010604	262700	85442	C2678408	C567492	LIM homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-pituitary and cerebellar defects-small sella turcica syndrome"	None
Acrocapitofemoral dysplasia	acfd	IHH	IHH	https://raresource.nih.gov/literature/disease/0010605	0010605	607778	63446	C1843096	C564334	Indian hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrocapitofemoral dysplasia"	9
Atelosteogenesis type III	ao3//aoiii//atelosteogenesis type 3	FLNB	FLNB	https://raresource.nih.gov/literature/disease/0010608	0010608	108721	56305	C3668942	C579928	filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atelosteogenesis type III"	11
Growth delay due to insulin-like growth factor I resistance	growth delay due to insulin-like growth factor 1 resistance//igf-1 (insulin-like growth factor 1) resistance//igf-1 resistance//igf-i resistance//insulin-like growth factor i resistance//insulin-like growth factor i, resistance to//resistance to igf-1//somatomedin c resistance//somatomedin end-organ insensitivity to//somatomedin-c resistance to	IGF1R	IGF1R	https://raresource.nih.gov/literature/disease/0010609	0010609	270450	73273	C1849157	C564816	insulin like growth factor 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth delay due to insulin-like growth factor I resistance"	11
Spondyloepimetaphyseal dysplasia, matrilin-3 type	semd, matn3-related//semd, matrilin-3 type//semdbcd//spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type//spondyloepimetaphyseal dysplasia, matn3-related	MATN3	MATN3	https://raresource.nih.gov/literature/disease/0010611	0010611	608728	156728	C1837481	C563869	matrilin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, matrilin-3 type"	None
Adrenomyeloneuropathy	adult onset adrenoleukodystrophy//amn//amn - adrenomyeloneuropathy	ABCD1	ABCD1	https://raresource.nih.gov/literature/disease/0010614	0010614		139399	C1527231		ATP binding cassette subfamily D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adrenomyeloneuropathy"	760
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	smed short limb-abnormal calcification type//smed short limb-hand type//smed type 2//smed, type ii//smed-sl//smed-sl/ac//spondylometaepiphyseal dysplasia short limb-abnormal calcification type//spondylometaepiphyseal dysplasia, short limb-hand type	DDR2	DDR2	https://raresource.nih.gov/literature/disease/0010616	0010616	271665	93358	C1849011	C564794	discoidin domain receptor tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	6
Spondyloepimetaphyseal dysplasia, Missouri type	semd type 2//semd, missouri type//spondyloepimetaphyseal dysplasia type 2	MMP13	MMP13	https://raresource.nih.gov/literature/disease/0010618	0010618	602111	93356	C1865832		matrix metallopeptidase 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Missouri type"	None
Osteogenesis imperfecta type 9	oi 9//oi type ix//oi9//osteogenesis imperfecta caused by mutation in ppib//osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen//osteogenesis imperfecta type ix//ppib osteogenesis imperfecta//ppib-related osteogenesis imperfecta	PPIB	PPIB	https://raresource.nih.gov/literature/disease/0010619	0010619	259440		C1850169	C564921	peptidylprolyl isomerase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 9"	3
Smith-McCort dysplasia	smc1	DYM;RAB33B	DYM;RAB33B	https://raresource.nih.gov/literature/disease/0010620	0010620		178355	C1846431	C564589	dymeclin; RAB33B, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-McCort dysplasia"	16
Metaphyseal dysplasia without hypotrichosis	cartilage-hair hypoplasia variant, skeletal manifestations only//cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency//metaphyseal dysplasia without hypotrichosis (mdwh)	RMRP	RMRP	https://raresource.nih.gov/literature/disease/0010622	0010622	250460		C1834821	C563574	RNA component of mitochondrial RNA processing endoribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal dysplasia without hypotrichosis"	1
Type II complement component 8 deficiency	c8 beta deficiency//c8 deficiency, type ii//c8b classic complement early component deficiency//c8b deficiency//classic complement early component deficiency caused by mutation in c8b//complement c8 deficiency, type ii//complement component 8b deficiency	C8B	C8B	https://raresource.nih.gov/literature/disease/0010625	0010625	613789		C3151080		complement C8 beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Type II complement component 8 deficiency"	12
Type I complement component 8 deficiency	c8 alpha-gamma deficiency//c8 deficiency, type i//c8a classic complement early component deficiency//c8ag deficiency//classic complement early component deficiency caused by mutation in c8a//complement c8 deficiency, type i	C8A	C8A	https://raresource.nih.gov/literature/disease/0010626	0010626	613790		C3151081		complement C8 alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Type I complement component 8 deficiency"	7
Growth delay due to insulin-like growth factor type 1 deficiency	growth delay, deafness, intellectual disability syndrome//growth delay-deafness- intellectual disability syndrome//growth delay-deafness-intellectual disability syndrome//growth delay-hearing loss-intellectual disability syndrome//growth retardation with deafness and mental retardation due to igf1 deficiency//growth retardation with sensorineural deafness and mental retardation//igf-1 (insulin-like growth factor 1) deficiency//igf-1 deficiency//igf1 deficiency//igf1d//primary insulin-like growth factor deficiency	IGF1	IGF1	https://raresource.nih.gov/literature/disease/0010627	0010627	608747	73272	C1837475	C563867	insulin like growth factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth delay due to insulin-like growth factor type 1 deficiency"	162
Congenital diarrhea 5 with tufting enteropathy	congenital familial intractable diarrhea with epithelial or epithelium abnormalities//congenital familial intractable diarrhoea with epithelial or epithelium abnormalities//congenital tufting enteropathy//diar5//epcam secretory diarrhea//epcam secretory diarrhoea//ied//intestinal epithelial cell dysplasia//intestinal epithelial dysplasia//non-syndromic congenital tufting enteropathy//secretory diarrhea caused by mutation in epcam//secretory diarrhoea caused by mutation in epcam//tufting enteropathy	EPCAM	EPCAM	https://raresource.nih.gov/literature/disease/0010630	0010630	613217	92050	C2750737	C567703	epithelial cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital diarrhea 5 with tufting enteropathy"	371
Carney-Stratakis syndrome	carney dyad//carney stratakis dyad//carney-stratakis dyad//gist-paraganglioma dyad//paraganglioma and gastric stromal sarcoma//paraganglioma and gastric stromal sarcoma syndrome//paraganglioma and gastrointestinal stromal tumor//sdhb-related paraganglioma and gastric stromal sarcoma//sdhc-related paraganglioma and gastric stromal sarcoma//sdhd-related paraganglioma and gastric stromal sarcoma	SDHD;SDHB;SDHC	SDHD;SDHB;SDHC	https://raresource.nih.gov/literature/disease/0010643	0010643	606864	97286	C1847319	C564650	succinate dehydrogenase complex subunit D; succinate dehydrogenase complex iron sulfur subunit B; succinate dehydrogenase complex subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carney-Stratakis syndrome"	66
Dent disease type 2	dent disease 2, x-linked recessive//dent disease caused by mutation in ocrl//nephrolithiasis type 2//ocrl dent disease	OCRL	OCRL	https://raresource.nih.gov/literature/disease/0010645	0010645	300555	93623	C1845167	C564487	OCRL inositol polyphosphate-5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dent disease type 2"	5
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	smd-crd	PCYT1A	PCYT1A	https://raresource.nih.gov/literature/disease/0010647	0010647	608940	85167	C1837073	C563825	phosphate cytidylyltransferase 1A, choline	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	4
Retinal cone dystrophy 3A	retinal cone dystrophy 3//retinal cone dystrophy type 3a	PDE6H	PDE6H	https://raresource.nih.gov/literature/disease/0010648	0010648	610024			C566483	phosphodiesterase 6H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal cone dystrophy 3A"	None
Cone dystrophy with supernormal rod response	cdsrr//cone dystrophy with supernormal rod electroretinogram//cone dystrophy with supernormal rod erg//cone dystrophy with supernormal rod responses//cone dystrophy with supernormal scotopic electroretinogram//retinal cone dystrophy type 3b	KCNV2	KCNV2	https://raresource.nih.gov/literature/disease/0010649	0010649	610356	209932	C1835897	C563678	potassium voltage-gated channel modifier subfamily V member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone dystrophy with supernormal rod response"	11
Retinal cone dystrophy 4	cacna2d4 cone dystrophy//cone dystrophy caused by mutation in cacna2d4//rcd4//retinal cone dystrophy type 4	CACNA2D4	CACNA2D4	https://raresource.nih.gov/literature/disease/0010650	0010650	610478		C1864849	C566470	calcium voltage-gated channel auxiliary subunit alpha2delta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal cone dystrophy 4"	None
X-linked cone-rod dystrophy 1	cod1//cone-rod dystrophy, x-linked, 1, x-linked recessive//cone-rod dystrophy, x-linked, type 1//cordx1//x-linked cone dystrophy 1//x-linked cone-rod dystrophy type 1	RPGR	RPGR	https://raresource.nih.gov/literature/disease/0010652	0010652	304020		C1844776	C564438	retinitis pigmentosa GTPase regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked cone-rod dystrophy 1"	4
Cone-rod dystrophy 3	abca4 cone-rod dystrophy//cone-rod dystrophy caused by mutation in abca4//cone-rod dystrophy type 3//cord3	ABCA4	ABCA4	https://raresource.nih.gov/literature/disease/0010653	0010653	604116		C1858806	C565827	ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 3"	3
X-linked cone-rod dystrophy 3	cone-rod dystrophy, x-linked, 3, x-linked recessive//cone-rod dystrophy, x-linked, type 3//cordx3//x-linked cone-rod dystrophy type 3	CACNA1F	CACNA1F	https://raresource.nih.gov/literature/disease/0010654	0010654	300476		C1845407	C564507	calcium voltage-gated channel subunit alpha1 F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked cone-rod dystrophy 3"	175
Cone-rod dystrophy 5	cone-rod dystrophy caused by mutation in pitpnm3//cone-rod dystrophy type 5//cord5//pitpnm3 cone-rod dystrophy	PITPNM3	PITPNM3	https://raresource.nih.gov/literature/disease/0010655	0010655	600977		C1832976	C563415	PITPNM family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 5"	3
Cone-rod dystrophy 6	cone dystrophy progressive//cone-rod dystrophy caused by mutation in gucy2d//cone-rod dystrophy type 6//cord6//gucy2d cone-rod dystrophy//rcd2//retinal cone dystrophy 2	GUCY2D	GUCY2D	https://raresource.nih.gov/literature/disease/0010656	0010656	601777		C1866293	C538363	guanylate cyclase 2D, retinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 6"	18
Maturity-onset diabetes of the young type 2	diabetes mellitus autosomal dominant type ii//diabetes mellitus mody type 2//diabetes mellitus, type ii, autosomal dominant//gck (glucokinase) monogenic diabetes mellitus//gck maturity-onset diabetes of the young (disease)//gck-associated diabetes mellitus//glucokinase-associated diabetes mellitus//maturity onset diabetes in youth type 2//maturity onset diabetes in youth type ii//maturity-onset diabetes of the young (disease) caused by mutation in gck//mody 2 monogenic diabetes type 2//mody glucokinase-related//mody type 2//mody, type ii//mody2//mody2 (maturity onset diabetes of the young type 2)	GCK	GCK	https://raresource.nih.gov/literature/disease/0010657	0010657	125851		C0342277		glucokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 2"	102
Maturity-onset diabetes of the young type 3	hepatocyte nuclear factor 1-alpha-associated monogenic diabetes//hnf1a maturity-onset diabetes of the young (disease)//hnf1a-associated monogenic diabetes//maturity-onset diabetes of the young (disease) caused by mutation in hnf1a//mody type 3//mody type 3//mody, type iii//mody3//mody3 (maturity-onset diabetes of the young type 3)	HNF1A	HNF1A	https://raresource.nih.gov/literature/disease/0010658	0010658	600496		C1838100	C563933	HNF1 homeobox A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 3"	134
Maturity-onset diabetes of the young type 4	maturity-onset diabetes of the young (disease) caused by mutation in pdx1//maturity-onset diabetes of the young, type iv//mody type 4//mody, type iv//mody4//mody4 (maturity-onset diabetes of the young type 4)//pdx1 maturity-onset diabetes of the young (disease)//pdx1-associated monogenic diabetes	PDX1	PDX1	https://raresource.nih.gov/literature/disease/0010659	0010659	606392		C1833382	C563451	pancreatic and duodenal homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 4"	203
Maturity-onset diabetes of the young type 6	maturity-onset diabetes of the young (disease) caused by mutation in neurod1//maturity-onset diabetes of the young 6//mody type 6//mody6//mody6 (maturity-onset diabetes of the young type 6)//neurod1 maturity-onset diabetes of the young (disease)//neurod1-associated monogenic diabetes//neurogenic differentiation factor 1-associated monogenic diabetes	NEUROD1	NEUROD1	https://raresource.nih.gov/literature/disease/0010660	0010660	606394		C1853371	C565231	neuronal differentiation 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 6"	7
Maturity-onset diabetes of the young type 7	klf11 maturity-onset diabetes of the young (disease)//maturity-onset diabetes of the young (disease) caused by mutation in klf11//maturity-onset diabetes of the young, type vii//mody7//mody7 (maturity-onset diabetes of the young type 7)	KLF11	KLF11	https://raresource.nih.gov/literature/disease/0010661	0010661	610508		C1864839	C566466	KLF transcription factor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 7"	8
Maturity-onset diabetes of the young type 8	cel maturity-onset diabetes of the young (disease)//diabetes and pancreatic exocrine//diabetes and pancreatic exocrine dysfunction//diabetes-pancreatic exocrine dysfunction syndrome//maturity-onset diabetes of the young (disease) caused by mutation in cel//maturity-onset diabetes of the young type 8 with exocrine dysfunction//maturity-onset diabetes of the young type 8, with exocrine dysfunction//maturity-onset diabetes of the young, type viii//mody type 8//mody8//mody8 (maturity-onset diabetes of the young type 8)	CEL	CEL	https://raresource.nih.gov/literature/disease/0010662	0010662	609812		C1853297	C565225	carboxyl ester lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 8"	13
Maturity-onset diabetes of the young type 9	maturity-onset diabetes of the young (disease) caused by mutation in pax4//maturity-onset diabetes of the young, type ix//mody9//mody9 (maturity-onset diabetes of the young type 9)//pax4 maturity-onset diabetes of the young (disease)	PAX4	PAX4	https://raresource.nih.gov/literature/disease/0010663	0010663	612225		C2677132	C567393	paired box 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 9"	6
Dystonia 25	autosomal dominant focal dystonia dyt25 type//autosomal dominant focal dystonia, dyt25 type//dystonia type 25//dystonic disorder caused by mutation in gnal//dyt25//gnal dystonic disorder	GNAL	GNAL	https://raresource.nih.gov/literature/disease/0010667	0010667	615073	329466	C4304670		G protein subunit alpha L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 25"	162
Sphingolipid activator protein 1 deficiency	metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency//metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator//metachromatic leukodystrophy due to sap-b deficiency//metachromatic leukodystrophy due to saposin b deficiency//sapi - sphingolipid activator protein i deficiency//saposin b deficiency	PSAP	PSAP	https://raresource.nih.gov/literature/disease/0010674	0010674	249900		C0268262	C562609	prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sphingolipid activator protein 1 deficiency"	15
Gaucher disease perinatal lethal	fetal gaucher disease//foetal gaucher disease//gaucher disease collodion type//gaucher disease, collodion type//gaucher disease, perinatal-lethal form//gaucher's disease perinatal lethal//perinatal lethal gaucher disease	GBA1	GBA1	https://raresource.nih.gov/literature/disease/0010675	0010675	608013	85212	C1842704	C564306	glucosylceramidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease perinatal lethal"	8
Familial juvenile hyperuricemic nephropathy type 1	adtkd-umod//adtkd1//autosomal dominant medullary cystic kidney disease type 2//autosomal dominant medullary cystic kidney disease with hyperuricemia//autosomal dominant tubulo-interstitial kidney disease//autosomal dominant tubulointerstitial kidney disease - umod//autosomal dominant tubulointerstitial kidney disease due to mutations in umod//familial juvenile hyperuricemic nephropathy caused by mutation in umod//fjhn type 1//glomerulocystic kidney disease with hyperuricemia and isosthenuria//hnfj1//hyperuricemic nephropathy, familial juvenile, 1//hyperuricemic nephropathy, familial juvenile, type 1//mckd2//medullary cystic kidney disease 2//medullary cystic kidney disease type 2//medullary cystic kidney disease type ii//tubulointerstitial kidney disease, autosomal dominant, 1//umod familial juvenile hyperuricemic nephropathy//umod-associated familial juvenile hyperuricemic nephropathy//umod-associated fjhn//umod-associated kidney disease//umod-related adtkd//umod-related autosomal dominant tubulointerstitial kidney disease//umod-related kidney disease//uromodulin storage disease//uromodulin-associated kidney disease	UMOD	UMOD	https://raresource.nih.gov/literature/disease/0010679	0010679	162000	88950	C4551496	C563693	uromodulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial juvenile hyperuricemic nephropathy type 1"	90
Pseudohypoparathyroidism type 1B	php ib//php1b//pseudohypoparathyroidism ib//pseudohypoparathyroidism ib (php-ib)//pseudohypoparathyroidism type ib	GNAS;GNAS-AS1;STX16	GNAS;GNAS-AS1;STX16	https://raresource.nih.gov/literature/disease/0010680	0010680	603233	94089	C1864100	C548075	GNAS complex locus; GNAS antisense RNA 1; syntaxin 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoparathyroidism type 1B"	198
Pseudohypoparathyroidism type 1C	php ic//php1c//pseudohypoparathyroidism ic//pseudohypoparathyroidism, type ic	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0010681	0010681	612462	79444	C2932716	C548076	GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoparathyroidism type 1C"	6
Primary lateral sclerosis	adult-onset pls//adult-onset primary lateral sclerosis//lateral sclerosis//pls	SPG7	SPG7	https://raresource.nih.gov/literature/disease/0010684	0010684		35689	C0154682		SPG7 matrix AAA peptidase subunit, paraplegin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary lateral sclerosis"	1072
Neuroferritinopathy	adult basal ganglia disease//adult onset basal ganglia disease//basal ganglia disease, adult-onset//ferritin related neurodegeneration//ferritin-related neurodegeneration//hereditary ferritinopathy//nbia3//neurodegeneration with brain iron accumulation 3//neurodegeneration with brain iron accumulation type 3//neuroferritinopathy; basal ganglia disease, adult-onset	FTL	FTL	https://raresource.nih.gov/literature/disease/0010686	0010686	606159	157846	C1853578	C548080	ferritin light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuroferritinopathy"	121
Neurodegeneration with brain iron accumulation 2B	anad//atypical neuroaxonal dystrophy (anad)//nbia2b//neuroaxonal dystrophy, atypical//neurodegeneration with brain iron accumulation type 2b//neurodegeneration with brain iron accumulation, pla2g6-related	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0010688	0010688	610217		C1857747		phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 2B"	8
Duane retraction syndrome 3 with or without deafness	duane retraction syndrome 3//duane retraction syndrome caused by mutation in mafb//duane syndrome type 3//durs3//mafb duane retraction syndrome	MAFB	MAFB	https://raresource.nih.gov/literature/disease/0010691	0010691	617041		C4310752		MAF bZIP transcription factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duane retraction syndrome 3 with or without deafness"	None
Atrial septal defect, ostium primum type	asd ostium primum type//asd, ostium primum type//atrial septal defect ostium primum//atrioventricular defect with atrial shunting only//incomplete atrioventricular canal defect with isolated atrial component//incomplete atrioventricular septal defect with isolated atrial component//ostium primum asd//partial atrioventricular canal defect with isolated atrial component//partial atrioventricular septal defect//partial atrioventricular septal defect: ostium primum type//pavc//pavsd//primum atrial septal defect	TLL1	TLL1	https://raresource.nih.gov/literature/disease/0010695	0010695		99106	C5680294		tolloid like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect, ostium primum type"	44
Sinus venosus atrial septal defect	asd, sinus venosus type//atrial septal defect, sinus venosus type//sinus venosus asd//sinus venosus atrial septal defects//sinus venosus defect	CITED2	CITED2	https://raresource.nih.gov/literature/disease/0010696	0010696		99105	C0344730	C548009	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sinus venosus atrial septal defect"	374
Noonan syndrome 2	noonan syndrome type 2//ns2	LZTR1	LZTR1	https://raresource.nih.gov/literature/disease/0010698	0010698	605275		C1854469	C548081	leucine zipper like post translational regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 2"	1
Noonan syndrome 4	noonan syndrome caused by mutation in sos1//noonan syndrome type 4//noonan syndrome with pigmented villonodular synovitis//ns4//sos1 noonan syndrome//sos1-related noonan syndrome	SOS1	SOS1	https://raresource.nih.gov/literature/disease/0010699	0010699	610733		C1853120	C548082	SOS Ras/Rac guanine nucleotide exchange factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 4"	881
Noonan syndrome 5	noonan syndrome caused by mutation in raf1//noonan syndrome type 5//ns5//raf1 noonan syndrome//raf1-related noonan syndrome	RAF1	RAF1	https://raresource.nih.gov/literature/disease/0010700	0010700	611553		C1969057	C548083	Raf-1 proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 5"	None
Noonan syndrome 6	noonan syndrome caused by mutation in nras//noonan syndrome type 6//nras noonan syndrome//nras-related noonan syndrome//ns6	NRAS	NRAS	https://raresource.nih.gov/literature/disease/0010701	0010701	613224		C2750732	C548084	NRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 6"	None
Congenital pontocerebellar hypoplasia type 1	mrt32//norman disease//pch1//pch1 - pontocerebellar hypoplasia type 1//pontocerebellar hypoplasia type 1	EXOSC3;EXOSC9;EXOSC8;SLC25A46;AGTPBP1;VRK1	EXOSC3;EXOSC9;EXOSC8;SLC25A46;AGTPBP1;VRK1	https://raresource.nih.gov/literature/disease/0010704	0010704		2254	C5442006	C548069	exosome component 3; exosome component 9; exosome component 8; solute carrier family 25 member 46; ATP/GTP binding carboxypeptidase 1; VRK serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital pontocerebellar hypoplasia type 1"	40
Pontocerebellar hypoplasia type 2	congenital pontocerebellar hypoplasia type 2//pch2//pch2 - pontocerebellar hypoplasia type 2	SEPSECS;TSEN34;TSEN54;TSEN15;TSEN2	SEPSECS;TSEN34;TSEN54;TSEN15;TSEN2	https://raresource.nih.gov/literature/disease/0010705	0010705		2524	C2932714	C548070	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase; tRNA splicing endonuclease subunit 34; tRNA splicing endonuclease subunit 54; tRNA splicing endonuclease subunit 15; tRNA splicing endonuclease subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2"	35
Hypermanganesemia with dystonia, polycythemia, and cirrhosis	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome//cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome//dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease//hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia//hmdpc - hypermanganesemia with dystonia, polycythemia and cirrhosis//hmndyt1//hypermanganesemia with dystonia 1	SLC30A10	SLC30A10	https://raresource.nih.gov/literature/disease/0010706	0010706	613280	309854	C2750442	C548016	solute carrier family 30 member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypermanganesemia with dystonia, polycythemia, and cirrhosis"	7
Deafness with labyrinthine aplasia, microtia, and microdontia	congenital deafness with inner ear agenesis, microtia, and microdontia//congenital deafness with labyrinthine aplasia, microtia and microdontia//deafness with lamm//deafness, congenital with inner ear agenesis, microtia, and microdontia//deafness, congenital, with labyrinthine aplasia, microtia, and microdontia//hearing loss with labyrinthine aplasia, microtia, and microdontia//lamm syndrome//microdontia-type i microtia-deafness syndrome//microdontia-type i microtia-hearing loss syndrome	FGF3	FGF3	https://raresource.nih.gov/literature/disease/0010707	0010707	610706	90024	C1853144	C565195	fibroblast growth factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness with labyrinthine aplasia, microtia, and microdontia"	13
Pontocerebellar hypoplasia type 3	cerebellar atrophy with progressive microcephaly//clam//congenital pontocerebellar hypoplasia type 3//non-syndromic pontocerebellar hypoplasia caused by mutation in pclo//pch with optic atrophy//pch without dyskinesia//pch3//pch3 - pontocerebellar hypoplasia type 3//pclo non-syndromic pontocerebellar hypoplasia	PCLO	PCLO	https://raresource.nih.gov/literature/disease/0010708	0010708	608027	97249	C1842687	C548072	piccolo presynaptic cytomatrix protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 3"	26
Pontocerebellar hypoplasia type 5	congenital pontocerebellar hypoplasia type 5//fetal onset olivopontocerebellar hypoplasia//fetal-onset olivopontocerebellar hypoplasia//pch5//pch5 - pontocerebellar hypoplasia type 5	TSEN54	TSEN54	https://raresource.nih.gov/literature/disease/0010709	0010709	610204		C1857762	C537745	tRNA splicing endonuclease subunit 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 5"	3
Pontocerebellar hypoplasia type 6	congenital pontocerebellar hypoplasia type 6//fatal infantile encephalopathy with mitochondrial respiratory chain defect//fatal infantile encephalopathy with mitochondrial respiratory chain defects//non-syndromic pontocerebellar hypoplasia caused by mutation in rars2//pch6//pch6 - pontocerebellar hypoplasia type 6//rars2 non-syndromic pontocerebellar hypoplasia	RARS2	RARS2	https://raresource.nih.gov/literature/disease/0010710	0010710	611523	166073	C1969084	C548074	arginyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 6"	28
Legius syndrome	neurofibromatosis 1-like syndrome//neurofibromatosis type 1-like syndrome//nf1-like syndrome//nfls - neurofibromatosis type 1-like syndrome	SPRED1	SPRED1	https://raresource.nih.gov/literature/disease/0010714	0010714	611431	137605	C1969623	C548032	sprouty related EVH1 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Legius syndrome"	117
HSD10 mitochondrial disease	17-beta-hydroxysteroid dehydrogenase 10 deficiency//17-beta-hydroxysteroid dehydrogenase x deficiency//2-methyl-3-hydroxybutyric aciduria//2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency//2m3hba//3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency//3-hydroxyacyl-coa dehydrogenase 2 deficiency//3h2mbd deficiency//chorioathetosis with mental retardation and abnormal behavior//chorioathetosis with mental retardation and abnormal behaviour//hsd10 deficiency//hsd10 disease//hsd10 mitochondrial disease, x-linked dominant//hsd10md//hsd17b10 deficiency//mental retardation with chorioathetosis and abnormal behavior//mental retardation with chorioathetosis and abnormal behaviour//mental retardation, x-linked syndromic 10//mental retardation, x-linked, syndromic 10//mental retardation, x-linked, syndromic type 10//mhbd deficiency//mrxs10	HSD17B10	HSD17B10	https://raresource.nih.gov/literature/disease/0010716	0010716	300438	391417	C3266731	C536080;C564560	hydroxysteroid 17-beta dehydrogenase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HSD10 mitochondrial disease"	42
Heinz body anemia	heinz body anaemia//heinz body anemias, alpha-//heinz body hemolytic anemia	HBB;HBA2;HBA1	HBB;HBA2;HBA1	https://raresource.nih.gov/literature/disease/0010718	0010718	140700		C0700299	C563030	hemoglobin subunit beta; hemoglobin subunit alpha 2; hemoglobin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heinz body anemia"	89
Noonan syndrome-like disorder with loose anagen hair	mazzanti syndrome//noonan-like syndrome with loose anagen hair//ns/lah//tosti syndrome	PPP1CB;SHOC2	PPP1CB;SHOC2	https://raresource.nih.gov/literature/disease/0010719	0010719		2701	C1843181	C564342	protein phosphatase 1 catalytic subunit beta; SHOC2 leucine rich repeat scaffold protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome-like disorder with loose anagen hair"	13
Spondylocostal dysostosis 1, autosomal recessive	dll3-related spondylocostal dysostosis, autosomal recessive//scdo1	DLL3;MESP2	DLL3;MESP2	https://raresource.nih.gov/literature/disease/0010726	0010726			CN032975		delta like canonical Notch ligand 3; mesoderm posterior bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocostal dysostosis 1, autosomal recessive"	1
Koolen-de Vries syndrome	chromosome 17q21.31 deletion syndrome//kansl1-related intellectual disability syndrome//kdvs//microdeletion 17q21.31 syndrome	KANSL1	KANSL1	https://raresource.nih.gov/literature/disease/0010727	0010727	610443	96169	C1864871		KAT8 regulatory NSL complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Koolen-de Vries syndrome"	57
Lethal congenital glycogen storage disease of heart	fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease//fatal congenital hypertrophic cardiomyopathy due to glycogenosis//fatal congenital hypertrophic cardiomyopathy due to gsd//fatal congenital nonlysosomal cardiac glycogenosis//glycogen storage disease caused by mutation in prkag2//glycogen storage disease of heart//phosphorylase kinase deficiency of heart//prkag2 glycogen storage disease	PRKAG2	PRKAG2	https://raresource.nih.gov/literature/disease/0010728	0010728	261740	439854	C1849813	C564888	protein kinase AMP-activated non-catalytic subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital glycogen storage disease of heart"	1
Niemann-Pick disease, type B	chronic visceral acid sphingomyelinase deficiency//chronic visceral asmd//niemann-pick disease non-neuropathic type//niemann-pick disease, chronic non-neuronopathic//npd-b//type b niemann-pick disease	SMPD1	SMPD1	https://raresource.nih.gov/literature/disease/0010729	0010729	607616	77293	C0268243	D052537	sphingomyelin phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease, type B"	179
Pyridoxal phosphate-responsive seizures	epileptic encephalopathy, neonatal, pnpo-related//pnpo deficiency//pnpo-related neonatal epileptic encephalopathy//pnpod//pyridox(am)ine 5’-phosphate oxidase deficiency//pyridoxal 5-phosphate dependent epilepsy//pyridoxal phosphate-dependent seizures//pyridoxamine 5'-oxidase deficiency//pyridoxamine 5'-phosphate oxidase deficiency//pyridoxamine 5-prime-phosphate oxidase deficiency//pyridoxine 5' phosphate oxidase deficiency//pyridoxine-5'-phosphate oxidase deficiency//seizures, pyridoxine-resistant, plp-sensitive	PNPO	PNPO	https://raresource.nih.gov/literature/disease/0010730	0010730	610090	79096	C1864723	C566449	pyridoxamine 5'-phosphate oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyridoxal phosphate-responsive seizures"	752
McLeod neuroacanthocytosis syndrome	blood group deletion syndrome//mclds//mcleod phenotype//mcleod syndrome//mcleod syndrome with or without chronic granulomatous disease//mls//neuroacanthocytosis, mcleod type//x-linked mcleod syndrome	XK	XK	https://raresource.nih.gov/literature/disease/0010731	0010731	300842	59306	C0398568	C564038	X-linked Kx blood group antigen, Kell and VPS13A binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=McLeod neuroacanthocytosis syndrome"	579
Leukoencephalopathy with calcifications and cysts	labrune syndrome//lcc//leukoencephalopathy, brain calcifications, and cysts	SNORD118	SNORD118	https://raresource.nih.gov/literature/disease/0010732	0010732	614561	542310	C3281200	C000598644	small nucleolar RNA, C/D box 118	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with calcifications and cysts"	441
DICER1-related tumor predisposition	dicer1 syndrome//dicer1-related pleuropulmonary blastoma cancer predisposition syndrome//pleuro-pulmonary blastoma familial tumor susceptibility syndrome//pleuro-pulmonary blastoma familial tumour susceptibility syndrome//pleuropulmonary blastoma familial tumor and dysplasia syndrome//pleuropulmonary blastoma familial tumor susceptibility syndrome//pleuropulmonary blastoma familial tumour susceptibility syndrome//pleuropulmonary blastoma family tumor susceptibility syndrome//ppb familial tumor susceptibility syndrome//ppb familial tumour susceptibility syndrome//ppbftds	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0010734	0010734		284343	C3839822		dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DICER1-related tumor predisposition"	228
Primary hyperoxaluria type 3	hoga1 primary hyperoxaluria//ph iii//primary hyperoxaluria caused by mutation in hoga1//primary hyperoxaluria type iii	HOGA1	HOGA1	https://raresource.nih.gov/literature/disease/0010738	0010738	613616	93600	C3150878		4-hydroxy-2-oxoglutarate aldolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hyperoxaluria type 3"	39
Pachyonychia congenita syndrome	congenital pachyonychia//jackson-lawler type pachyonychia congenita//jadassohn-lewandowsky syndrome//pachyonychia congenita//pachyonychia congenita, jadassohn-lewandowsky type//pc	KRT17;KRT16;KRT6B;KRT6A	KRT17;KRT16;KRT6B;KRT6A	https://raresource.nih.gov/literature/disease/0010753	0010753		2309	C0265334	D053549	keratin 17; keratin 16; keratin 6B; keratin 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachyonychia congenita syndrome"	13529
Glycogen storage disease due to muscle and heart glycogen synthase deficiency	glycogen storage disease due to glycogen synthase deficiency of heart//glycogen storage disease type 0, muscle//glycogen storage disease type 0b//glycogenosis due to muscle and heart glycogen synthase deficiency//glycogenosis type 0b//gsd 0b//gsd due to muscle and heart glycogen synthase deficiency//gsd type 0b//heart glycogen storage disease due to glycogen synthase deficiency//muscle glycogen synthase deficiency	GYS1	GYS1	https://raresource.nih.gov/literature/disease/0010760	0010760	611556	137625	C1969054	C566917	glycogen synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle and heart glycogen synthase deficiency"	2
Hereditary arterial and articular multiple calcification syndrome	arterial calcification due to deficiency of cd73//calcification of joints and arteries//calja	NT5E	NT5E	https://raresource.nih.gov/literature/disease/0010762	0010762	211800	289601	C1859372	C565891	5'-nucleotidase ecto	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary arterial and articular multiple calcification syndrome"	12
Glycine N-methyltransferase deficiency	gnmt deficiency//hypermethioninemia due to deficiency of glycine n-methyltransferase//hypermethioninemia due to glycine n-methyltransferase deficiency//hypermethioninemia due to gnmt (glycine n-methyltransferase) deficiency//hypermethioninemia due to gnmt deficiency	GNMT	GNMT	https://raresource.nih.gov/literature/disease/0010764	0010764	606664	289891	C1847720		glycine N-methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycine N-methyltransferase deficiency"	16
Hereditary factor XIII deficiency disease	congenital factor xiii deficiency//deficiency, laki-lorand factor//fibrin-stabilizing factor deficiency//laki-lorand factor deficiency disease	F13B;F13A1	F13B;F13A1	https://raresource.nih.gov/literature/disease/0010766	0010766		331	C0015530	D005177	coagulation factor XIII B chain; coagulation factor XIII A chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary factor XIII deficiency disease"	114
MOGS-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type iib//cdg 2b//cdg iib//cdg syndrome type iib//cdg-iib//cdg2b//congenital disorder of glycosylation type 2b//congenital disorder of glycosylation type iib//glucosidase 1 deficiency//glucosidase i deficiency//mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation//mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation//mogs-cdg//mogs-cdg (cdg-iib)	MOGS	MOGS	https://raresource.nih.gov/literature/disease/0010767	0010767	606056	79330	C1853736	C565264	mannosyl-oligosaccharide glucosidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MOGS-congenital disorder of glycosylation"	16
Familial or sporadic hemiplegic migraine	hemiplegic migraine	SCN1A;ATP1A2;PRRT2;CACNA1A	SCN1A;ATP1A2;PRRT2;CACNA1A	https://raresource.nih.gov/literature/disease/0010768	0010768		569	CN295307		sodium voltage-gated channel alpha subunit 1; ATPase Na+/K+ transporting subunit alpha 2; proline rich transmembrane protein 2; calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial or sporadic hemiplegic migraine"	522
MYH7-related skeletal myopathy	distal myopathy type 1//gowers disease//laing distal myopathy//laing early-onset distal myopathy//mpd1//myopathy distal, type 1//myopathy, distal, 1//myopathy, distal, early-onset, autosomal dominant//myopathy, distal, type 1//myopathy, late distal hereditary	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0010769	0010769	160500	59135	C4552004		myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYH7-related skeletal myopathy"	42
Hypogonadism with anosmia	anosmia eunuchoidism//anosmic hypogonadism//anosmic idiopathic hypogonadotropic hypogonadism//congenital hypogonadotropic hypogonadism with anosmia//dysplasia olfactogenitalis of de morsier//dysplasia olfactogenitalis of de morsier (formerly)//familial hypogonadism with anosmia//gonadotrophin deficiency with anosmia//hypogonadotropic hypogonadism with anosmia//hypogonadotropic hypogonadism-anosmia syndrome//kallman syndrome//kallman's syndrome//kallmann syndrome//kallmann's syndrome//ks//olfacto-genital pathological sequence//olfactogenital dysplasia	SPRY4;FGF8;DUSP6;FLRT3;FGF17;PROK2;CCDC141;SEMA3A;PROKR2;IL17RD;CHD7;DCC;FEZF1;NDNF;FGFR1;HESX1;SOX10;TACR3;HS6ST1;ANOS1;WDR11	SPRY4;FGF8;DUSP6;FLRT3;FGF17;PROK2;CCDC141;SEMA3A;PROKR2;IL17RD;CHD7;DCC;FEZF1;NDNF;FGFR1;HESX1;SOX10;TACR3;HS6ST1;ANOS1;WDR11	https://raresource.nih.gov/literature/disease/0010771	0010771		478	C0162809	D017436	sprouty RTK signaling antagonist 4; fibroblast growth factor 8; dual specificity phosphatase 6; fibronectin leucine rich transmembrane protein 3; fibroblast growth factor 17; prokineticin 2; coiled-coil domain containing 141; semaphorin 3A; prokineticin receptor 2; interleukin 17 receptor D; chromodomain helicase DNA binding protein 7; DCC netrin 1 receptor; FEZ family zinc finger 1; neuron derived neurotrophic factor; fibroblast growth factor receptor 1; HESX homeobox 1; SRY-box transcription factor 10; tachykinin receptor 3; heparan sulfate 6-O-sulfotransferase 1; anosmin 1; WD repeat domain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadism with anosmia"	6644
Hypogonadotropic hypogonadism 4 with or without anosmia	hh4//hypogonadotropic hypogonadism 4 with anosmia//hypogonadotropic hypogonadism caused by mutation in prok2//kal4//prok2 hypogonadotropic hypogonadism	PROK2	PROK2	https://raresource.nih.gov/literature/disease/0010772	0010772	610628		C3552343	C565696	prokineticin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 4 with or without anosmia"	1
Hypogonadotropic hypogonadism 5 with or without anosmia	chd7 hypogonadotropic hypogonadism//hypogonadotrophic hypogonadism 5 without anosmia//hypogonadotropic hypogonadism 5 with anosmia//hypogonadotropic hypogonadism caused by mutation in chd7//kal5	CHD7	CHD7	https://raresource.nih.gov/literature/disease/0010773	0010773	612370		C3552553	C567220	chromodomain helicase DNA binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 5 with or without anosmia"	None
Hypogonadotropic hypogonadism 6 with or without anosmia	fgf8 hypogonadotropic hypogonadism//hh6//hypogonadotropic hypogonadism 6 with anosmia//hypogonadotropic hypogonadism 6 without anosmia//hypogonadotropic hypogonadism caused by mutation in fgf8	FGF8	FGF8	https://raresource.nih.gov/literature/disease/0010774	0010774	612702		C3552574	C567199	fibroblast growth factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 6 with or without anosmia"	None
Syndromic multisystem autoimmune disease due to ITCH deficiency	autoimmune disease, multisystem, with facial dysmorphism	ITCH	ITCH	https://raresource.nih.gov/literature/disease/0010775	0010775	613385	228426	C3150649		itchy E3 ubiquitin protein ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic multisystem autoimmune disease due to ITCH deficiency"	1
Specific granule deficiency	neutrophil lactoferrin deficiency//neutrophil-specific granule deficiency//recurrent infection due to specific granule deficiency//sgd - specific granule deficiency	SMARCD2;CEBPE	SMARCD2;CEBPE	https://raresource.nih.gov/literature/disease/0010778	0010778		169142	C0398593	C562873	SWI/SNF related BAF chromatin remodeling complex subunit D2; CCAAT enhancer binding protein epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Specific granule deficiency"	57
Goldmann-Favre syndrome	retinoschisis with early nyctalopia	NR2E3	NR2E3	https://raresource.nih.gov/literature/disease/0010781	0010781		53540	C0339541		nuclear receptor subfamily 2 group E member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Goldmann-Favre syndrome"	38
Stickler syndrome	hereditary progressive arthroophthalmopathy//stickler dysplasia//wagner-stickler syndrome	BMP4	BMP4	https://raresource.nih.gov/literature/disease/0010782	0010782		828	C0265253		bone morphogenetic protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome"	497
Bilateral frontoparietal polymicrogyria	bfpp - bilateral frontoparietal polymicrogyria//cerebellar ataxia with neuronal migration defect//cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal)	ADGRG1	ADGRG1	https://raresource.nih.gov/literature/disease/0010784	0010784	606854	101070	C1847352	C564652	adhesion G protein-coupled receptor G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral frontoparietal polymicrogyria"	50
Bilateral parasagittal parieto-occipital polymicrogyria	polymicrogyria, bilateral temporooccipital	FIG4	FIG4	https://raresource.nih.gov/literature/disease/0010785	0010785	612691	208441	C4013648	C567201	FIG4 phosphoinositide 5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral parasagittal parieto-occipital polymicrogyria"	4
Bilateral generalized polymicrogyria	bilateral generalised polymicrogyria//diffuse polymicrogyria//microcephaly, short stature, and polymicrogyria with seizures	GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0010786	0010786		208447	C5139324		glutamate ionotropic receptor NMDA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral generalized polymicrogyria"	15
Loeys-Dietz syndrome	aortic aneurysm syndrome due to tgf-beta receptors anomalies//lds	TGFBR2;IPO8;TGFBR1;SMAD3;TGFB3;SMAD2;TGFB2	TGFBR2;IPO8;TGFBR1;SMAD3;TGFB3;SMAD2;TGFB2	https://raresource.nih.gov/literature/disease/0010788	0010788		60030	C2697932	D055947	transforming growth factor beta receptor 2; importin 8; transforming growth factor beta receptor 1; SMAD family member 3; transforming growth factor beta 3; SMAD family member 2; transforming growth factor beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-Dietz syndrome"	1161
Cone-rod dystrophy	cone-rod degeneration//cone-rod retinal dystrophy//cone/cone-rod dystrophy//crd//prph2-related cone-rod dystrophy//unc119-related cone-rod dystrophy	UNC119;RPGRIP1;CDHR1;RAX2;TTLL5;GUCA1A;CNGA3;ABCA4;PRPH2;SEMA4A;CACNA2D4;CACNA1F;PITPNM3;ATF6;OPN1LW;POC1B;PROM1;RIMS1;NMNAT1;ADAM9;CFAP418;UBAP1L;RPGR;CRX;OPN1MW;CFAP410;TLCD3B;DRAM2;GUCY2D;RAB28	UNC119;RPGRIP1;CDHR1;RAX2;TTLL5;GUCA1A;CNGA3;ABCA4;PRPH2;SEMA4A;CACNA2D4;CACNA1F;PITPNM3;ATF6;OPN1LW;POC1B;PROM1;RIMS1;NMNAT1;ADAM9;CFAP418;UBAP1L;RPGR;CRX;OPN1MW;CFAP410;TLCD3B;DRAM2;GUCY2D;RAB28	https://raresource.nih.gov/literature/disease/0010790	0010790		1872	C4085590	D000071700	unc-119 lipid binding chaperone; RPGR interacting protein 1; cadherin related family member 1; retina and anterior neural fold homeobox 2; tubulin tyrosine ligase like 5; guanylate cyclase activator 1A; cyclic nucleotide gated channel subunit alpha 3; ATP binding cassette subfamily A member 4; peripherin 2; semaphorin 4A; calcium voltage-gated channel auxiliary subunit alpha2delta 4; calcium voltage-gated channel subunit alpha1 F; PITPNM family member 3; activating transcription factor 6; opsin 1, long wave sensitive; POC1 centriolar protein B; prominin 1; regulating synaptic membrane exocytosis 1; nicotinamide nucleotide adenylyltransferase 1; ADAM metallopeptidase domain 9; cilia and flagella associated protein 418; ubiquitin associated protein 1 like; retinitis pigmentosa GTPase regulator; cone-rod homeobox; opsin 1, medium wave sensitive; cilia and flagella associated protein 410; TLC domain containing 3B; DNA damage regulated autophagy modulator 2; guanylate cyclase 2D, retinal; RAB28, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy"	1608
Semantic dementia	dementia, frontotemporal//semantic primary progressive aphasia//semantic variant ppa//trouble remembering words	PSEN1	PSEN1	https://raresource.nih.gov/literature/disease/0010792	0010792		100069	C0338462		presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Semantic dementia"	1170
Primary progressive non fluent aphasia	agramatic variant of ppa//agramatic variant of primary progressive aphasia//non-fluent variant ppa//progressive non-fluent aphasia	PSEN1	PSEN1	https://raresource.nih.gov/literature/disease/0010793	0010793		100070	C0751706	D057178	presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary progressive non fluent aphasia"	165
Lamellar ichthyosis	classic lamellar ichthyosis//collodion baby//congenital lamellar ichthyosis//li	ABCA12;ALOX12B;ALOXE3;ASPRV1;SULT2B1;CYP4F22;SDR9C7;NIPAL4;TGM1;LIPN	ABCA12;ALOX12B;ALOXE3;ASPRV1;SULT2B1;CYP4F22;SDR9C7;NIPAL4;TGM1;LIPN	https://raresource.nih.gov/literature/disease/0010803	0010803		313	C5848247		ATP binding cassette subfamily A member 12; arachidonate 12-lipoxygenase, 12R type; arachidonate epidermal lipoxygenase 3; aspartic peptidase retroviral like 1; sulfotransferase family 2B member 1; cytochrome P450 family 4 subfamily F member 22; short chain dehydrogenase/reductase family 9C member 7; NIPA like domain containing 4; transglutaminase 1; lipase family member N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lamellar ichthyosis"	1476
Familial adenomatous polyposis 2	adenomas, multiple colorectal//adenomas, multiple colorectal, autosomal recessive//colorectal adenomatous polyposis, autosomal recessive//familial adenomatous polyposis, type 2//fap type 2//fap2//map//mutyh-associated polyposis//mutyh-related adenomatous polyposis//mutyh-related afap//mutyh-related attenuated familial adenomatous polyposis//mutyh-related attenuated familial polyposis coli//mutyh-related attenuated fap//myh-associated polyposis	MUTYH	MUTYH	https://raresource.nih.gov/literature/disease/0010805	0010805	608456	247798	C3272841	C563924	mutY DNA glycosylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial adenomatous polyposis 2"	1806
Developmental and epileptic encephalopathy, 9	dee9//early infantile epileptic encephalopathy 9//early infantile epileptic encephalopathy caused by mutation in pcdh19//early infantile epileptic encephalopathy type 9//early infantile female-limited epilecptic encephalopathy//efmr//eiee9//epilepsy, female-restricted, with mental retardation//epileptic encephalopathy, early infantile, 9//epileptic encephalopathy, early infantile, type 9//familial epilepsy and intellectual disability limited to females//familial epilepsy and mental retardation limited to females//female restricted epilepsy with intellectual disability//female restricted epilepsy with mental retardation//juberg hellman syndrome//juberg-hellman syndrome//pcdh19 early infantile epileptic encephalopathy//pcdh19-related x-linked female-limited epilepsy with mental retardation	PCDH19	PCDH19	https://raresource.nih.gov/literature/disease/0010806	0010806	300088	101039	C1848137	C564715	protocadherin 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 9"	70
Fatty acid hydroxylase-associated neurodegeneration	dysmyelinating leukodystrophy and spastic paraparesis//fahn//spastic paraplegia 35	FA2H	FA2H	https://raresource.nih.gov/literature/disease/0010810	0010810		329308	C3668943	C580102	fatty acid 2-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatty acid hydroxylase-associated neurodegeneration"	24
Chromosome 1q21.1 deletion syndrome	1q21.1 contiguous gene deletion//1q21.1 deletion//1q21.1 microdeletion//1q21.1 microdeletion syndrome//1q21.1 recurrent microdeletion//1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)//chromosome 1q21.1 deletion syndrome, 1.35-mb//chromosome 1q21.1 deletion syndrome, isolated cases//del(1)(q21)//microdeletion of chromosome 1q21.1//monosomy 1q21.1	GJA5;GJA8	GJA5;GJA8	https://raresource.nih.gov/literature/disease/0010813	0010813	612474	250989	C2675897	C567291	gap junction protein alpha 5; gap junction protein alpha 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 1q21.1 deletion syndrome"	3
Thrombophilia due to thrombin defect	factor v r2 mutation thrombophilia//prothrombin thrombophilia//prothrombin-related thrombophilia//prothrombin-related thrombophilia (factor ii)//thph1//thrombophilia 1 due to thrombin defect//thrombophilia due to factor 2 defect//thrombosis susceptibility//venous thromboembolism, susceptibility to//venous thrombosis, protection against	F2;F13A1;HABP2;MTHFR	F2;F13A1;HABP2;MTHFR	https://raresource.nih.gov/literature/disease/0010815	0010815	188050		C3160733		coagulation factor II, thrombin; coagulation factor XIII A chain; hyaluronan binding protein 2; methylenetetrahydrofolate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia due to thrombin defect"	4
Hereditary spastic paraplegia 31	autosomal dominant spastic paraplegia 31//autosomal dominant spastic paraplegia type 31//hereditary spastic paraplegia caused by mutation in reep1//hereditary spastic paraplegia type 31//reep1 hereditary spastic paraplegia//spastic paraplegia 31//spastic paraplegia 31, autosomal dominant//spg31	REEP1	REEP1	https://raresource.nih.gov/literature/disease/0010817	0010817	610250	101011	C1853247	C565210	receptor accessory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 31"	9
Combined malonic and methylmalonic acidemia	cmamma//cmamma - combined malonic and methylmalonic aciduria//combined malonic and methylmalonic aciduria	ACSF3	ACSF3	https://raresource.nih.gov/literature/disease/0010818	0010818	614265	289504	C3280314	C580002	acyl-CoA synthetase family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined malonic and methylmalonic acidemia"	13
Obesity due to pro-opiomelanocortin deficiency	obesity, adrenal insufficiency, and red hair due to pomc deficiency//obesity, early-onset, adrenal insufficiency, and red hair//obesity, early-onset, with adrenal insufficiency and red hair//pomc deficiency//proopiomelanocortin deficiency//proopiomelanocortin deficiency syndrome	POMC	POMC	https://raresource.nih.gov/literature/disease/0010823	0010823	609734	71526	C1857854	C565726	proopiomelanocortin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to pro-opiomelanocortin deficiency"	42
Cushing syndrome due to macronodular adrenal hyperplasia	acth-independent macronodular adrenal hyperplasia//hypercortisolism due to macronodular adrenal hyperplasia//primary bilateral macronodular adrenal hyperplasia	GNAS;ARMC5	GNAS;ARMC5	https://raresource.nih.gov/literature/disease/0010824	0010824		189427	C2062388	C565662	GNAS complex locus; armadillo repeat containing 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cushing syndrome due to macronodular adrenal hyperplasia"	113
Hyperparathyroidism 2 with jaw tumors	familial cystic parathyroid adenomatosis//familial primary hyperparathyroidism with multiple ossifying jaw fibromas//hpt-jt//hyperparathyroidism 2//hyperparathyroidism type 2//hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas//hyperparathyroidism-2//hyperparathyroidism-jaw tumor syndrome//hyperparathyroidism-jaw tumor syndrome, hereditary//hyperparathyroidism-jaw tumour syndrome//parathyroid adenoma with cystic changes	CDC73	CDC73	https://raresource.nih.gov/literature/disease/0010829	0010829	145001	99880	C1704981		cell division cycle 73	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperparathyroidism 2 with jaw tumors"	227
Familial multiple trichoepitheliomata	brooke-fordyce trichoepitheliomas//epithelioma adenoides cysticum of brooke//epithelioma, hereditary multiple benign cystic//familial multiple trichoepithelioma	CYLD	CYLD	https://raresource.nih.gov/literature/disease/0010867	0010867		867	C1275122		CYLD lysine 63 deubiquitinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial multiple trichoepitheliomata"	7
Intermediate severe Salla disease		SLC17A5	SLC17A5	https://raresource.nih.gov/literature/disease/0010871	0010871		309331	C5681076		solute carrier family 17 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate severe Salla disease"	None
Normophosphatemic familial tumoral calcinosis	calcinosis, tumoral, with normophosphatemia//familial normophosphatemic tumoral calcinosis//normocalcemic tumoral calcinosis//tumoral calcinosis, familial, normophosphatemic	SAMD9	SAMD9	https://raresource.nih.gov/literature/disease/0010878	0010878	610455	306658	C1864861	C566473	sterile alpha motif domain containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Normophosphatemic familial tumoral calcinosis"	8
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	cortical hyperostosis with hyperphosphatemia//familial teutschlaender disease//hftc//hypercalcemic tumoral calcinosis//hyperostosis with hyperphosphatemia//hyperphosphatemia hyperostosis//hyperphosphatemia hyperostosis syndrome//hyperphosphatemia tumoral calcinosis//hyperphosphatemic familial tumoral calcinosis//lipocalcinogranulomatosis//morbus teutschlaender//phptc//primary hyperphosphatemic tumoral calcinosis//tumoral calcinosis with hyperphosphatemia//tumoral calcinosis, hyperphosphatemic, familial	FGF23;KL;GALNT3	FGF23;KL;GALNT3	https://raresource.nih.gov/literature/disease/0010879	0010879		306661	C1876187		fibroblast growth factor 23; klotho; polypeptide N-acetylgalactosaminyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"	87
Leber congenital amaurosis 7	crx leber congenital amaurosis//crx-related leber congenital amaurosis//lca7//leber congenital amaurosis caused by mutation in crx//leber congenital amaurosis type 7	CRX	CRX	https://raresource.nih.gov/literature/disease/0010880	0010880	613829		C3151192		cone-rod homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 7"	1
Leber congenital amaurosis 8	crb1 leber congenital amaurosis//crb1-related leber congenital amaurosis//lca8//leber congenital amaurosis caused by mutation in crb1//leber congenital amaurosis type 8	CRB1	CRB1	https://raresource.nih.gov/literature/disease/0010881	0010881	613835		C3151202		crumbs cell polarity complex component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 8"	2
Leber congenital amaurosis 13	lca13//leber congenital amaurosis caused by mutation in rdh12//leber congenital amaurosis type 13//rdh12 leber congenital amaurosis//rdh12-related leber congenital amaurosis	RDH12	RDH12	https://raresource.nih.gov/literature/disease/0010882	0010882	612712		C2675186	C567197	retinol dehydrogenase 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 13"	3
Leber congenital amaurosis 14	lca14//leber congenital amaurosis caused by mutation in lrat//leber congenital amaurosis type 14//lrat leber congenital amaurosis//lrat-related leber congenital amaurosis//retinal dystrophy, early-onset severe	LRAT	LRAT	https://raresource.nih.gov/literature/disease/0010883	0010883	613341		C2750063	C567636	lecithin retinol acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 14"	None
Leber congenital amaurosis 15	lca15//leber congenital amaurosis caused by mutation in tulp1//leber congenital amaurosis type 15//tulp1 leber congenital amaurosis//tulp1-related leber congenital amaurosis	TULP1	TULP1	https://raresource.nih.gov/literature/disease/0010884	0010884	613843		C3151206		TUB like protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 15"	None
Leber congenital amaurosis 16	kcnj13 leber congenital amaurosis//kcnj13-related leber congenital amaurosis//lca16//leber congenital amaurosis caused by mutation in kcnj13//leber congenital amaurosis type 16	KCNJ13	KCNJ13	https://raresource.nih.gov/literature/disease/0010885	0010885	614186		C3280062		potassium inwardly rectifying channel subfamily J member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 16"	8
Osteofibrous dysplasia	cortical fibrous dysplasia//kempson-campanacci lesion//ofd//osfd//ossifying fibroma of long bones//osteofibrous dysplasia of bone//tibia, bowing of, with pseudarthrosis and pectus excavatum	MET	MET	https://raresource.nih.gov/literature/disease/0010887	0010887	607278	488265	C4085248	C563276;C563787	MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteofibrous dysplasia"	304
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps//autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures//hanac//hanac - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps//hanac syndrome//hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome//hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome	COL4A1	COL4A1	https://raresource.nih.gov/literature/disease/0010889	0010889	611773	73229	C2673195	C567088	collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"	27
GM1 gangliosidosis	beta-galactosidase deficiency//beta-galactosidase-1 deficiency//deficiency of beta-galactosidase//gangliosidosis gm1//glb1 deficiency//landing disease//landing syndrome	GLB1	GLB1	https://raresource.nih.gov/literature/disease/0010891	0010891		354	C0085131	D016537	galactosidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GM1 gangliosidosis"	762
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	ibmpfd//ibmpfd - inclusion body myopathy with early onset paget disease and frontotemporal dementia//inclusion body myopathy with early-onset paget disease and frontotemporal dementia//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia//inclusion body myopathy with paget disease of bone and/or frontotemporal dementia//inclusion body myopathy with paget's disease of bone and frontotemporal dementia//inclusion body myopathy/paget disease/frontotemporal dementia//limb-girdle muscular dystrophy with paget disease of bone//lower motor neuron degeneration with paget-like bone disease//muscular dystrophy limb-girdle with paget disease of bone//pagetoid amyotrophic lateral sclerosis//pagetoid neuroskeletal syndrome	VCP;HNRNPA2B1;HNRNPA1	VCP;HNRNPA2B1;HNRNPA1	https://raresource.nih.gov/literature/disease/0010899	0010899		52430	C1833662		valosin containing protein; heterogeneous nuclear ribonucleoprotein A2/B1; heterogeneous nuclear ribonucleoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	140
Hereditary diffuse gastric adenocarcinoma	diffuse gastric and lobular breast cancer syndrome//familial diffuse cancer of stomach//familial diffuse gastric cancer//fdgc//hdgc//hereditary diffuse cancer of stomach//hereditary diffuse gastric cancer	CDH1	CDH1	https://raresource.nih.gov/literature/disease/0010900	0010900		26106	C1708349		cadherin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary diffuse gastric adenocarcinoma"	442
Dyskeratosis congenita	cole-engmann-zinsser syndrome//congenital dyskeratosis//dc//dkc//dkc - dyskeratosis congenita//zinsser-cole-engman syndrome//zinsser-cole-engmann syndrome//zinsser-engman-cole syndrome	PARN;TERC;TERT;RTEL1;DKC1;NPM1;TYMS;TINF2;NOP10;WRAP53;USB1;CTC1;NHP2	PARN;TERC;TERT;RTEL1;DKC1;NPM1;TYMS;TINF2;NOP10;WRAP53;USB1;CTC1;NHP2	https://raresource.nih.gov/literature/disease/0010905	0010905		1775	C0265965	D019871	poly(A)-specific ribonuclease; telomerase RNA component; telomerase reverse transcriptase; regulator of telomere elongation helicase 1; dyskerin pseudouridine synthase 1; nucleophosmin 1; thymidylate synthetase; TERF1 interacting nuclear factor 2; NOP10 ribonucleoprotein; WD repeat containing antisense to TP53; U6 snRNA biogenesis phosphodiesterase 1; CST telomere replication complex component 1; NHP2 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita"	2542
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	cid due to magt1 deficiency//combined immunodeficiency due to magt1 deficiency//immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia, x-linked recessive//xmen	MAGT1	MAGT1	https://raresource.nih.gov/literature/disease/0010907	0010907	300853	317476	C3275445		magnesium transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"	81
Adult-onset foveomacular vitelliform dystrophy	adult onset vitelliform dystrophy//adult vitelliform macular dystrophy//adult-onset foveomacular dystrophy//adult-onset foveomacular dystrophy with choroidal neovascularization//adult-onset vitelliform macular dystrophy//aofmd//aofmd - adult-onset foveomacular dystrophy//avmd//avmd - adult vitelliform macular dystrophy//foveomacular dystrophy, adult-onset//foveomacular dystrophy, adult-onset, with or without choroidal neovascularization//gass disease//macular dystrophy, vitelliform, type 3//pseudo-best disease//pseudo-vitelliform macular dystrophy	IMPG1;PRPH2;BEST1;IMPG2	IMPG1;PRPH2;BEST1;IMPG2	https://raresource.nih.gov/literature/disease/0010909	0010909		99000	C1842914		interphotoreceptor matrix proteoglycan 1; peripherin 2; bestrophin 1; interphotoreceptor matrix proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset foveomacular vitelliform dystrophy"	48
Familial avascular necrosis of the femoral head	aseptic necrosis of femoral head//aseptic necrosis of head of femur//familial avascular necrosis of femoral head//familial avascular necrosis of head of femur//familial osteonecrosis of the femoral head	TRPV4;COL2A1	TRPV4;COL2A1	https://raresource.nih.gov/literature/disease/0010914	0010914		86820	C4275066	D005271	transient receptor potential cation channel subfamily V member 4; collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial avascular necrosis of the femoral head"	29
X-linked lymphoproliferative disease due to XIAP deficiency	lymphoproliferative syndrome, x-linked, 2, x-linked recessive//lymphoproliferative syndrome, x-linked, type 2//x-linked lymphoproliferative syndrome type 2//xiap deficiency//xiap deficiency syndrome//xiap deficiency/xlps//xlp2	XIAP	XIAP	https://raresource.nih.gov/literature/disease/0010916	0010916	300635	538934	C1845076	C564469	X-linked inhibitor of apoptosis	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked lymphoproliferative disease due to XIAP deficiency"	91
Hypomyelinating leukodystrophy 6	h-abc//h-abc - hypomyelination, atrophy of basal ganglia and cerebellum//habc//hld6//hypomyelinating leukodystrophy type 6//hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum//hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum//hypomyelination with atrophy of basal ganglia and cerebellum//hypomyelination with atrophy of basal ganglia and cerebellum syndrome//leukodystrophy, hypomyelinating, type 6//leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum//tubb4a-associated leukodystrophy	TUBB4A	TUBB4A	https://raresource.nih.gov/literature/disease/0010917	0010917	612438	139441	C2676244	C567314	tubulin beta 4A class IVa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 6"	42
Microcephaly, seizures, and developmental delay		PNKP	PNKP	https://raresource.nih.gov/literature/disease/0010933	0010933	613402		C3150667		polynucleotide kinase 3'-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, seizures, and developmental delay"	1
Monocytopenia with susceptibility to infections	combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection//combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections//combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections//dendritic cell, monocyte, b and nk lymphoid deficiency//dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency//immunodeficiency 21//immunodeficiency type 21//monocyte-b natural killer dendritic cell deficiency syndrome//monocyte-b-natural killer-dendritic cell deficiency syndrome//monocytopenia and mycobacterial infection syndrome//monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia//monomac	GATA2	GATA2	https://raresource.nih.gov/literature/disease/0010934	0010934	614172	228423	C3280030	D000077428	GATA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monocytopenia with susceptibility to infections"	10
Congenital generalized lipodystrophy type 4	berardinelli-seip congenital lipodystrophy type 4 with muscular dystrophy//berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy//bscl4//cavin1 congenital generalised lipodystrophy (disease)//cavin1 congenital generalized lipodystrophy (disease)//cgl4//congenital generalised lipodystrophy (disease) caused by mutation in cavin1//congenital generalized lipodystrophy (disease) caused by mutation in cavin1//gcl4//generalised congenital lipodystrophy type 4//generalised congenital lipodystrophy with myopathy//generalized congenital lipodystrophy type 4//generalized congenital lipodystrophy with myopathy	CAVIN1	CAVIN1	https://raresource.nih.gov/literature/disease/0010937	0010937	613327	228429	C2750069	C567642	caveolae associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital generalized lipodystrophy type 4"	23
CLOVES syndrome	clove syndrome//clove syndrome, somatic//cloves//congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome//congenital lipomatous overgrowth, vascular malformations, and epidermal nevi//congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, somatic//congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities//congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome//congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0010939	0010939	612918	140944	C2752042	C567863	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLOVES syndrome"	110
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	megalocornea, spherophakia, secondary glaucoma syndrome//megalocornea-spherophakia-secondary glaucoma syndrome	LTBP2	LTBP2	https://raresource.nih.gov/literature/disease/0010942	0010942		238763	C5190883		latent transforming growth factor beta binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"	None
COG6-congenital disorder of glycosylation	cdg iil//cdg syndrome type iil//cdg-iil//cdg2l//cog6-cdg//cog6-cgd//cog6-cgd - component of oligomeric golgi complex 6-congenital disorder of glycosylation//cog6-ongenital disorder of glycosylation//component of oligomeric golgi complex 6-congenital disorder of glycosylation//congenital disorder of glycosylation type 2l//congenital disorder of glycosylation type iil//congenital disorder of glycosylation, type iil	COG6	COG6	https://raresource.nih.gov/literature/disease/0010944	0010944	614576	464443	C3553230		component of oligomeric golgi complex 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG6-congenital disorder of glycosylation"	10
Short stature-optic atrophy-Pelger-Huët anomaly syndrome	short stature with optic atrophy and pelger-huët anomaly syndrome//short stature, optic nerve atrophy, and pelger-huet anomaly//short stature-optic atrophy-pelger-huc+t anomaly syndrome//soph syndrome	NBAS	NBAS	https://raresource.nih.gov/literature/disease/0010945	0010945	614800	391677	C3541319		NBAS subunit of NRZ tethering complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-optic atrophy-Pelger-Huët anomaly syndrome"	19
UV-sensitive syndrome	ultraviolet sensitive syndrome//uv (ultraviolet) sensitive syndrome//uvss - ultraviolet sensitive syndrome	ERCC8;ERCC6;UVSSA	ERCC8;ERCC6;UVSSA	https://raresource.nih.gov/literature/disease/0010947	0010947		178338	C1833561	C563466	ERCC excision repair 8, CSA ubiquitin ligase complex subunit; ERCC excision repair 6, chromatin remodeling factor; UV stimulated scaffold protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UV-sensitive syndrome"	47
Methylcrotonyl-CoA carboxylase deficiency	3 methylcrotonylglycinuria//3-mcc deficiency//3-methylcrotonyl-coa carboxylase deficiency//3-methylcrotonylglycinuria//3mcc deficiency//bmcc deficiency//deficiency of methylcrotonoyl-coa carboxylase//mcc deficiency//mccd//methylcrotonyl-coenzyme a carboxylase deficiency	MCCC2;MCCC1	MCCC2;MCCC1	https://raresource.nih.gov/literature/disease/0010954	0010954		6	C4551505		methylcrotonyl-CoA carboxylase subunit 2; methylcrotonyl-CoA carboxylase subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylcrotonyl-CoA carboxylase deficiency"	129
Noonan syndrome	map2k1-related noonan syndrome//noonan's syndrome//noonan-ehmke syndrome//ns//turner phenotype, karyotype normal//turner's phenotype, karyotype normal//turner-like syndrome	RRAS2;BRAF;MRAS;LZTR1;KRAS;SPRED2;RAF1;PTPN11;NRAS;CBL;RIT1;SOS1;RASA2;SOS2	RRAS2;BRAF;MRAS;LZTR1;KRAS;SPRED2;RAF1;PTPN11;NRAS;CBL;RIT1;SOS1;RASA2;SOS2	https://raresource.nih.gov/literature/disease/0010955	0010955		648	C0028326	D009634	RAS related 2; B-Raf proto-oncogene, serine/threonine kinase; muscle RAS oncogene homolog; leucine zipper like post translational regulator 1; KRAS proto-oncogene, GTPase; sprouty related EVH1 domain containing 2; Raf-1 proto-oncogene, serine/threonine kinase; protein tyrosine phosphatase non-receptor type 11; NRAS proto-oncogene, GTPase; Cbl proto-oncogene; Ras like without CAAX 1; SOS Ras/Rac guanine nucleotide exchange factor 1; RAS p21 protein activator 2; SOS Ras/Rho guanine nucleotide exchange factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome"	6078
Iron-refractory iron deficiency anemia	anemia, hypochromic microcytic, with defect in iron metabolism//irida//irida (iron-refractory iron deficiency anemia) syndrome//irida syndrome//iron-handling disorder, hereditary//iron-refractory iron deficiency anaemia//pseudo-iron-deficiency anemia	TMPRSS6	TMPRSS6	https://raresource.nih.gov/literature/disease/0010957	0010957	206200	209981	C0085576	C562385	transmembrane serine protease 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Iron-refractory iron deficiency anemia"	123
Familial isolated pituitary adenoma	fipa	AIP	AIP	https://raresource.nih.gov/literature/disease/0010959	0010959		314777	C2676191		AHR interacting HSP90 co-chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated pituitary adenoma"	108
Bent bone dysplasia syndrome 1	bbds1//fgfr2-related bent bone dysplasia//perinatal lethal bent bone dysplasia	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0010965	0010965	614592	313855	C3281247		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bent bone dysplasia syndrome 1"	None
Systemic-onset juvenile idiopathic arthritis	sjia//sojia//still disease//systemic polyarthritis//systemic-onset jia	IL6;MIF	IL6;MIF	https://raresource.nih.gov/literature/disease/0010966	0010966		85414	C1858558	C565798	interleukin 6; macrophage migration inhibitory factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic-onset juvenile idiopathic arthritis"	928
Migraine, familial hemiplegic, 3	familial or sporadic hemiplegic migraine caused by mutation in scn1a//migraine, familial hemiplegic, type 3//scn1a familial or sporadic hemiplegic migraine	SCN1A	SCN1A	https://raresource.nih.gov/literature/disease/0010974	0010974	609634		C1864987	C566500	sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Migraine, familial hemiplegic, 3"	None
Leukoencephalopathy, diffuse hereditary, with spheroids 1	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia//alsp//autosomal dominant leukoencephalopathy with neuroaxonal spheroids//csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia//csf1r-related alsp//csf1r-related hereditary diffuse leukoencephalopathy with spheroids//dementia, familial, neumann type//familial dementia, neumann type//familial progressive subcortical gliosis//fpsg//gliosis, familial progressive subcortical//gpsc//hdls//hdls1//hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia//hereditary diffuse leukoencephalopathy with spheroids//leukoencephalopathy with neuroaxonal spheroids, autosomal dominant//leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia//pigmentary orthochromatic leukodystrophy//pold//subcortical gliosis of neumann	CSF1R	CSF1R	https://raresource.nih.gov/literature/disease/0010981	0010981	221820	313808	C5561929	C580150	colony stimulating factor 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy, diffuse hereditary, with spheroids 1"	199
Disseminated superficial actinic porokeratosis	dsap - disseminated superficial actinic porokeratosis	FDPS;MVK;SLC17A9;MVD	FDPS;MVK;SLC17A9;MVD	https://raresource.nih.gov/literature/disease/0010983	0010983		79152	C0265970		farnesyl diphosphate synthase; mevalonate kinase; solute carrier family 17 member 9; mevalonate diphosphate decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Disseminated superficial actinic porokeratosis"	166
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12rb1//il12rb1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency//il12rb1 deficiency//immunodeficiency 30//immunodeficiency type 30//mendelian susceptibility to interleukin 12 receptor beta 1 deficiency//msmd due to complete il12rb1 deficiency//msmd due to complete interleukin 12 receptor beta 1 deficiency	IL12RB1	IL12RB1	https://raresource.nih.gov/literature/disease/0010984	0010984	614891	319552	C4013949		interleukin 12 receptor subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"	15
Left ventricular noncompaction	left ventricular hypertrabeculation//left ventricular non-compaction cardiomyopathy//left ventricular non-compaction syndrome//left ventricular noncompaction (disease)//lv non-compaction syndrome//lvnc//spongy myocardium	PKP2;TNNT2;TBX20;MYH7;PRDM16;MYH7B;MIB1;TPM1	PKP2;TNNT2;TBX20;MYH7;PRDM16;MYH7B;MIB1;TPM1	https://raresource.nih.gov/literature/disease/0010985	0010985		54260	C1960469		plakophilin 2; troponin T2, cardiac type; T-box transcription factor 20; myosin heavy chain 7; PR/SET domain 16; myosin heavy chain 7B; MIB E3 ubiquitin protein ligase 1; tropomyosin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Left ventricular noncompaction"	1374
Mandibular hypoplasia-deafness-progeroid syndrome	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome//mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome//mandibular hypoplasia-hearing loss-progeroid syndrome//mdp syndrome//mdpl syndrome	POLD1	POLD1	https://raresource.nih.gov/literature/disease/0010989	0010989	615381	363649	C3715192		DNA polymerase delta 1, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibular hypoplasia-deafness-progeroid syndrome"	14
Spastic ataxia 4	autosomal recessive spastic ataxia caused by mutation in mtpap//autosomal recessive spastic ataxia type 4//autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome//autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome//mtpap autosomal recessive spastic ataxia//spastic ataxia type 4//spax 4 - autosomal recessive spastic ataxia type 4//spax4	MTPAP	MTPAP	https://raresource.nih.gov/literature/disease/0010992	0010992	613672	254343	C3150925		mitochondrial poly(A) polymerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 4"	2
Genitopatellar syndrome	absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation//absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome//gtpts	KAT6B	KAT6B	https://raresource.nih.gov/literature/disease/0010994	0010994	606170	85201	C1853566	C565255	lysine acetyltransferase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Genitopatellar syndrome"	49
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly		MED17	MED17	https://raresource.nih.gov/literature/disease/0010995	0010995	613668	402364	C3150921		mediator complex subunit 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	None
Aneurysm-osteoarthritis syndrome	aneurysms-osteoarthritis syndrome//loeys-dietz syndrome type 3//loeys-dietz syndrome with osteoarthritis//loeys-dietz syndrome, type 1c//smad3-related loeys-dietz syndrome//smad3-related thoracic aortic aneurysms and aortic dissections	SMAD3	SMAD3	https://raresource.nih.gov/literature/disease/0010997	0010997	613795	284984	C3151087		SMAD family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aneurysm-osteoarthritis syndrome"	35
Constitutional megaloblastic anemia with severe neurologic disease	dhfr deficiency//dihydrofolate reductase deficiency//megaloblastic anemia due to dihydrofolate reductase deficiency	DHFR	DHFR	https://raresource.nih.gov/literature/disease/0011000	0011000	613839	319651	C3151205	C565095	dihydrofolate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Constitutional megaloblastic anemia with severe neurologic disease"	14
Karyomegalic interstitial nephritis	fan1 interstitial nephritis//interstitial nephritis caused by mutation in fan1//kin//kin - karyomegalic interstitial nephritis//kmin//systemic karyomegaly	FAN1	FAN1	https://raresource.nih.gov/literature/disease/0011003	0011003	614817	401996	C3553774		FANCD2 and FANCI associated nuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Karyomegalic interstitial nephritis"	76
Nestor-Guillermo progeria syndrome	banf1-related neurodevelopmental syndrome//ngps//ngps - nestor guillermo progeria syndrome//progeria syndrome, childhood-onset, with osteolysis	BANF1	BANF1	https://raresource.nih.gov/literature/disease/0011008	0011008	614008	280576	C3151446		barrier to autointegration nuclear assembly factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nestor-Guillermo progeria syndrome"	16
Chondrodysplasia with joint dislocations, gPAPP type	chondrodysplasia with joint dislocations, grapp type//gpapp deficiency	BPNT2	BPNT2	https://raresource.nih.gov/literature/disease/0011009	0011009	614078	280586	C3279757		3'(2'), 5'-bisphosphate nucleotidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrodysplasia with joint dislocations, gPAPP type"	2
Hereditary sensorimotor neuropathy with hyperelastic skin		FBLN5	FBLN5	https://raresource.nih.gov/literature/disease/0011010	0011010		280598	C5190690		fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensorimotor neuropathy with hyperelastic skin"	None
PULMONARY ALVEOLAR MICROLITHIASIS	alveolar microlithiasis//pam - pulmonary alveolar microlithiasis	SLC34A2	SLC34A2	https://raresource.nih.gov/literature/disease/0011894	0011894	265100	60025	C0155912	C562405	solute carrier family 34 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PULMONARY ALVEOLAR MICROLITHIASIS"	500
Cone dystrophy	progressive cone dystrophy	CNGB3;PDE6C;GUCA1A;GNAT2	CNGB3;PDE6C;GUCA1A;GNAT2	https://raresource.nih.gov/literature/disease/0011897	0011897		1871	C0730290	D000077765	cyclic nucleotide gated channel subunit beta 3; phosphodiesterase 6C; guanylate cyclase activator 1A; G protein subunit alpha transducin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone dystrophy"	390
Juvenile amyotrophic lateral sclerosis	jals//jals - juvenile amyotrophic lateral sclerosis//juvenile charcot disease//juvenile lou gehrig disease	SPTLC1;SPG11;SIGMAR1;FUS;ALS2	SPTLC1;SPG11;SIGMAR1;FUS;ALS2	https://raresource.nih.gov/literature/disease/0011901	0011901		300605	C3468114		serine palmitoyltransferase long chain base subunit 1; SPG11 vesicle trafficking associated, spatacsin; sigma non-opioid intracellular receptor 1; FUS RNA binding protein; alsin Rho guanine nucleotide exchange factor ALS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile amyotrophic lateral sclerosis"	63
Atypical Werner syndrome	atypical progeroid syndrome	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0011910	0011910		79474	C4275075		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical Werner syndrome"	42
Deafness-infertility syndrome	chromosome 15q15.3 deletion syndrome//deafness and male infertility//dis//hearing loss-infertility syndrome//sensorineural deafness and male infertility	CATSPER2;STRC	CATSPER2;STRC	https://raresource.nih.gov/literature/disease/0011911	0011911	611102	94064	C1970187	C567010	cation channel sperm associated 2; stereocilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness-infertility syndrome"	212
Heritable pulmonary arterial hypertension	familial primary pulmonary hypertension//familial pulmonary arterial hypertension//fpah//hereditary pulmonary arterial hypertension//hpah	GDF2;EIF2AK4;TBX4;BMPR2;ATP13A3;KCNK3;CAV1;SMAD9	GDF2;EIF2AK4;TBX4;BMPR2;ATP13A3;KCNK3;CAV1;SMAD9	https://raresource.nih.gov/literature/disease/0011914	0011914		275777	C0340543	D065627	growth differentiation factor 2; eukaryotic translation initiation factor 2 alpha kinase 4; T-box transcription factor 4; bone morphogenetic protein receptor type 2; ATPase 13A3; potassium two pore domain channel subfamily K member 3; caveolin 1; SMAD family member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heritable pulmonary arterial hypertension"	282
Cap myopathy	cap disease//congenital myopathy with caps	MYPN;TPM3;TPM2	MYPN;TPM3;TPM2	https://raresource.nih.gov/literature/disease/0011915	0011915		171881	C3710589	C579969	myopalladin; tropomyosin 3; tropomyosin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cap myopathy"	47
Autosomal dominant nocturnal frontal lobe epilepsy	adnfle//adnfle - autosomal dominant nocturnal frontal lobe epilepsy//adshe - autosomal dominant sleep-related hypermotor epilepsy//autosomal dominant sleep-related hyperkinetic epilepsy//autosomal dominant sleep-related hypermotor epilepsy//enfl	DEPDC5;KCNT1;CABP4;CRH;CHRNA4;CHRNB2;CHRNA2	DEPDC5;KCNT1;CABP4;CRH;CHRNA4;CHRNB2;CHRNA2	https://raresource.nih.gov/literature/disease/0011918	0011918		98784	C3696898	C579932	DEP domain containing 5, GATOR1 subcomplex subunit; potassium sodium-activated channel subfamily T member 1; calcium binding protein 4; corticotropin releasing hormone; cholinergic receptor nicotinic alpha 4 subunit; cholinergic receptor nicotinic beta 2 subunit; cholinergic receptor nicotinic alpha 2 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nocturnal frontal lobe epilepsy"	247
Severe X-linked myotubular myopathy	centronuclear myopathy, x-linked//cnmx//mtm//myotubular myopathy 1//myotubular myopathy, x-linked//myotubular myopathy, x-linked, x-linked recessive//x-linked centronuclear myopathy//x-linked myotubular myopathy//xlcnm//xlmtm	MTM1	MTM1	https://raresource.nih.gov/literature/disease/0011925	0011925	310400	596	C0410203		myotubularin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe X-linked myotubular myopathy"	475
Hereditary sensory neuropathy-deafness-dementia syndrome	dnmt1-related dementia, deafness, and sensory neuropathy//hereditary sensory and autonomic neuropathy type 1e//hereditary sensory autonomic neuropathy type ie//hereditary sensory neuropathy type ie//hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome//hsan1e//hsn ie//hsn1e//neuropathy, hereditary sensory, with hearing loss and dementia	DNMT1	DNMT1	https://raresource.nih.gov/literature/disease/0011927	0011927	614116	456318	C3279885	C580162	DNA methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory neuropathy-deafness-dementia syndrome"	17
Hypomyelination and Congenital Cataract	fam126a leukodystrophy//hcc - hypomyelination and congenital cataract//hld5//hypomyelinating leukodystrophy 5//hypomyelinating leukodystrophy type 5//hypomyelination-congenital cataract syndrome//leukodystrophy caused by mutation in fam126a//leukodystrophy, hypomyelinating, type 5	HYCC1	HYCC1	https://raresource.nih.gov/literature/disease/0011980	0011980	610532	85163	C1864663	C567166	hyccin PI4KA lipid kinase complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelination and Congenital Cataract"	9
Charcot-Marie-Tooth disease dominant intermediate E	autosomal dominant intermediate charcot-marie-tooth disease type e//charcot-marie-tooth disease dominant intermediate type e//charcot-marie-tooth disease with nephropathy syndrome//charcot-marie-tooth disease, dominant intermediate type e//charcot-marie-tooth disease-nephropathy syndrome//charcot-marie-tooth neuropathy with focal segmental glomerulonephritis//cmtdie	INF2	INF2	https://raresource.nih.gov/literature/disease/0012011	0012011	614455	93114	C4302667		inverted formin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease dominant intermediate E"	1
Differentiated thyroid carcinoma	differentiated thyroid cancer//differentiated thyroid gland cancer//differentiated thyroid gland carcinoma//dtc - differentiated thyroid cancer//papillary or follicular thyroid carcinoma//thyroid gland differentiated carcinoma//thyroid gland well differentiated carcinoma//well differentiated thyroid carcinoma//well differentiated thyroid gland carcinoma//well-differentiated thyroid cancer//well-differentiated thyroid carcinoma	HRAS;NRAS;TERT;BRAF;LPAR4;KRAS;NDUFA13;GAS8-AS1;EIF1AX	HRAS;NRAS;TERT;BRAF;LPAR4;KRAS;NDUFA13;GAS8-AS1;EIF1AX	https://raresource.nih.gov/literature/disease/0012027	0012027		146	C1337013		HRas proto-oncogene, GTPase; NRAS proto-oncogene, GTPase; telomerase reverse transcriptase; B-Raf proto-oncogene, serine/threonine kinase; lysophosphatidic acid receptor 4; KRAS proto-oncogene, GTPase; NADH:ubiquinone oxidoreductase subunit A13; GAS8 antisense RNA 1; eukaryotic translation initiation factor 1A X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Differentiated thyroid carcinoma"	8421
GM3 synthase deficiency	amish infantile epilepsy syndrome//disorder of lactosylceramide alpha-2,3-sialyltransferase activity//epilepsy syndrome, infantile-onset symptomatic//ganglioside gm3 synthase deficiency//infantile-onset symptomatic epilepsy syndrome//infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness//infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome//lactosylceramide alpha-2,3-sialyltransferase activity disease//salt & pepper syndrome//salt and pepper developmental regression syndrome//salt and pepper mental retardation syndrome//salt and pepper syndrome//salt-and-pepper syndrome//spdrs//st3gal5-cdg	ST3GAL5	ST3GAL5	https://raresource.nih.gov/literature/disease/0012059	0012059	609056	370933	C1836824		ST3 beta-galactoside alpha-2,3-sialyltransferase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GM3 synthase deficiency"	33
Cholesteryl ester storage disease	cesd//cesd - cholesterol ester storage disease//cholesterol ester hydrolase deficiency, partial//cholesterol ester storage disease//lal deficiency, partial//lipa deficiency, partial//lysosomal acid lipase deficiency, partial	LIPA	LIPA	https://raresource.nih.gov/literature/disease/0012099	0012099		75234	C0008384	D015217	lipase A, lysosomal acid type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholesteryl ester storage disease"	254
Autosomal dominant non-syndromic intellectual disability	autosomal dominant non-syndromic mental retardation//non-syndromic intellectual disability, autosomal dominant	CUX1;HIVEP2;NBEA;KIF1A;BRSK2;CLTC;KIRREL3;CTNND2;GRIA1;CAMK2B;MED12L;ASH1L;DPYSL2;SCN8A;MBD5;SET;CIC;DEAF1;DOCK8;DLL1;TAOK1;EEF1A2;ERBB4;PPP3CA;CACNA1I;DYNC1H1;GABBR1;SLC6A1;YWHAZ;CACNG2;CDH15;TRPM3;SETD1B;EPB41L1;ITSN1;KCNQ2;KCNQ5;ARF3;SEMA6B;CAMK2A;PRICKLE2;CSNK2B;GRIN1;GRIN2B;RAB11A;TCF4	CUX1;HIVEP2;NBEA;KIF1A;BRSK2;CLTC;KIRREL3;CTNND2;GRIA1;CAMK2B;MED12L;ASH1L;DPYSL2;SCN8A;MBD5;SET;CIC;DEAF1;DOCK8;DLL1;TAOK1;EEF1A2;ERBB4;PPP3CA;CACNA1I;DYNC1H1;GABBR1;SLC6A1;YWHAZ;CACNG2;CDH15;TRPM3;SETD1B;EPB41L1;ITSN1;KCNQ2;KCNQ5;ARF3;SEMA6B;CAMK2A;PRICKLE2;CSNK2B;GRIN1;GRIN2B;RAB11A;TCF4	https://raresource.nih.gov/literature/disease/0012107	0012107		178469	C5680502		cut like homeobox 1; HIVEP zinc finger 2; neurobeachin; kinesin family member 1A; BR serine/threonine kinase 2; clathrin heavy chain; kirre like nephrin family adhesion molecule 3; catenin delta 2; glutamate ionotropic receptor AMPA type subunit 1; calcium/calmodulin dependent protein kinase II beta; mediator complex subunit 12L; ASH1 like histone lysine methyltransferase; dihydropyrimidinase like 2; sodium voltage-gated channel alpha subunit 8; methyl-CpG binding domain protein 5; SET nuclear proto-oncogene; capicua transcriptional repressor; DEAF1 transcription factor; dedicator of cytokinesis 8; delta like canonical Notch ligand 1; TAO kinase 1; eukaryotic translation elongation factor 1 alpha 2; erb-b2 receptor tyrosine kinase 4; protein phosphatase 3 catalytic subunit alpha; calcium voltage-gated channel subunit alpha1 I; dynein cytoplasmic 1 heavy chain 1; gamma-aminobutyric acid type B receptor subunit 1; solute carrier family 6 member 1; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta; calcium voltage-gated channel auxiliary subunit gamma 2; cadherin 15; transient receptor potential cation channel subfamily M member 3; SET domain containing 1B, histone lysine methyltransferase; erythrocyte membrane protein band 4.1 like 1; intersectin 1; potassium voltage-gated channel subfamily Q member 2; potassium voltage-gated channel subfamily Q member 5; ARF GTPase 3; semaphorin 6B; calcium/calmodulin dependent protein kinase II alpha; prickle planar cell polarity protein 2; casein kinase 2 beta; glutamate ionotropic receptor NMDA type subunit 1; glutamate ionotropic receptor NMDA type subunit 2B; RAB11A, member RAS oncogene family; transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant non-syndromic intellectual disability"	None
Trichothiodystrophy	trichothiodystrophy syndrome	GTF2H5;ERCC3;CARS1;MPLKIP;AARS1;ERCC2;GTF2E2;TARS1;RNF113A	GTF2H5;ERCC3;CARS1;MPLKIP;AARS1;ERCC2;GTF2E2;TARS1;RNF113A	https://raresource.nih.gov/literature/disease/0012109	0012109		33364	C1955934	D054463	general transcription factor IIH subunit 5; ERCC excision repair 3, TFIIH core complex helicase subunit; cysteinyl-tRNA synthetase 1; M-phase specific PLK1 interacting protein; alanyl-tRNA synthetase 1; ERCC excision repair 2, TFIIH core complex helicase subunit; general transcription factor IIE subunit 2; threonyl-tRNA synthetase 1; ring finger protein 113A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy"	459
Autosomal recessive primary microcephaly	mcph//microcephalia vera//microcephaly vera//microcephaly, primary autosomal recessive//microcephaly, primary, autosomal recessive	PDCD6IP;CPAP;KIF14;KNL1;WDR62;TRAPPC14;MFSD2A;MCM7;TRAPPC10;ASPM;NCAPD3;PYCR2;CDK5RAP2;CEP135;SARS1;WARS1;CIT;STIL;COPB2;ANKLE2;MCPH1;CENPE;SASS6;CEP152;CDK6;PHC1;TAF13;NUP37;METTL5;CEP63	PDCD6IP;CPAP;KIF14;KNL1;WDR62;TRAPPC14;MFSD2A;MCM7;TRAPPC10;ASPM;NCAPD3;PYCR2;CDK5RAP2;CEP135;SARS1;WARS1;CIT;STIL;COPB2;ANKLE2;MCPH1;CENPE;SASS6;CEP152;CDK6;PHC1;TAF13;NUP37;METTL5;CEP63	https://raresource.nih.gov/literature/disease/0012117	0012117		2512	C3711387	C579935	programmed cell death 6 interacting protein; centrosome assembly and centriole elongation protein; kinesin family member 14; kinetochore scaffold 1; WD repeat domain 62; trafficking protein particle complex subunit 14; MFSD2 lysolipid transporter A, lysophospholipid; minichromosome maintenance complex component 7; trafficking protein particle complex subunit 10; assembly factor for spindle microtubules; non-SMC condensin II complex subunit D3; pyrroline-5-carboxylate reductase 2; CDK5 regulatory subunit associated protein 2; centrosomal protein 135; seryl-tRNA synthetase 1; tryptophanyl-tRNA synthetase 1; citron rho-interacting serine/threonine kinase; STIL centriolar assembly protein; COPI coat complex subunit beta 2; ankyrin repeat and LEM domain containing 2; microcephalin 1; centromere protein E; SAS-6 centriolar assembly protein; centrosomal protein 152; cyclin dependent kinase 6; polyhomeotic homolog 1; TATA-box binding protein associated factor 13; nucleoporin 37; methyltransferase 5, N6-adenosine; centrosomal protein 63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive primary microcephaly"	250
Cobalamin C disease	cblc - cobalamin locus c//cblc defect//cblc methylmalonic acidemia and homocystinuria//cobalamin c defect//cobalamin c deficiency//cobalamin locus c variant//cobalamin-c methylmalonic acidemia and homocystinuria//combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc//methylmalonic acidemia and homocystinuria cblc type//methylmalonic acidemia with homocystinuria, type cblc//methylmalonic aciduria and homocystinuria type cblc//methylmalonic aciduria and homocystinuria, vitamin b12-responsive//methylmalonic aciduria with homocystinuria, type cblc//vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase	MMACHC;PRDX1	MMACHC;PRDX1	https://raresource.nih.gov/literature/disease/0012128	0012128	277400	79282	C1848561		metabolism of cobalamin associated C; peroxiredoxin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cobalamin C disease"	153
Renal hypomagnesemia 6	homg6//renal hypomagnesemia type 6	CNNM2	CNNM2	https://raresource.nih.gov/literature/disease/0012155	0012155	613882		C3151295		cyclin and CBS domain divalent metal cation transport mediator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypomagnesemia 6"	None
Reducing body myopathy		FHL1	FHL1	https://raresource.nih.gov/literature/disease/0012162	0012162		97239	C0270970		four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reducing body myopathy"	56
Brain-lung-thyroid syndrome	choreoathetosis and congenital hypothyroidism with pulmonary dysfunction//choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome//choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress//choreoathetosis, hypothyroidism, and neonatal respiratory distress//choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome	NKX2-1	NKX2-1	https://raresource.nih.gov/literature/disease/0012163	0012163	610978	209905	C1970269	C567034	NK2 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain-lung-thyroid syndrome"	45
MEGF10-related myopathy	a congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (megf10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.//a congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (megf10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.//cmyo10a//congenital myopathy 10a, severe variant//early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome//early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome//emardd//emardd (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome//megf10 myopathy	MEGF10	MEGF10	https://raresource.nih.gov/literature/disease/0012199	0012199	614399	439212	C3280679		multiple EGF like domains 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEGF10-related myopathy"	22
Chromosome 15q24 deletion syndrome	15q24 microdeletion syndrome//15q24 recurrent microdeletion syndrome//del(15)(q24)//monosomy 15q24	SIN3A	SIN3A	https://raresource.nih.gov/literature/disease/0012219	0012219		94065	C3150674	C579849	SIN3 transcription regulator family member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 15q24 deletion syndrome"	11
Autosomal recessive spinocerebellar ataxia 7	autosomal recessive spinocerebellar ataxia type 7//childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia//scar7//scar7 - autosomal recessive spinocerebellar ataxia type 7//spinocerebellar ataxia, autosomal recessive type 7	TPP1	TPP1	https://raresource.nih.gov/literature/disease/0012232	0012232	609270	284324	C1836474	C563753	tripeptidyl peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 7"	3
Autosomal recessive ataxia, Beauce type	arca1//ataxia, recessive, of beauce//autosomal recessive cerebellar ataxia type 1//scar8//spinocerebellar ataxia, autosomal recessive 8//spinocerebellar ataxia, autosomal recessive type 8//syne1-related autosomal recessive cerebellar ataxia	SYNE1	SYNE1	https://raresource.nih.gov/literature/disease/0012234	0012234	610743	88644	C1853116		spectrin repeat containing nuclear envelope protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia, Beauce type"	16
Hyperlipoproteinemia, type I	burger-grutz syndrome//endogenous hypertriglyceridemia//familial chylomicronemia//familial fat-induced hypertriglyceridemia//familial hyperchylomicronemia//familial hyperlipo-proteinemia type 1//familial hyperlipoproteinemia type i//familial hyperlipoproteinemia, type i//familial lipoprotein lipase deficiency//familial lipoprotein lipase deficiency (disorder) [ambiguous]//familial lipoprotein lipase deficiency with type i phenotype//familial lpl deficiency//familial type i hyperlipoproteinemia//fredrickson type 1 hyperlipoproteinemia//fredrickson type i hyperlipoproteinemia//fredrickson type i lipaemia//hepatosplenomegalic lipoidosis//high density lipoprotein cholesterol level qtl 11//hypercholesterinaemic xanthomatosis//hypercholesterinemic xanthomatosis//hyperchylomicro-nemia familial//hyperchylomicronemia//hyperlipemia essential familial//hyperlipemia idiopathic burger-grutz type//hyperlipoproteinemia type 1//hyperlipoproteinemia, type ia//lipase d deficiency//lipoprotein lipase deficiency//lpl deficiency//mixed hyperglyceridemia//primary hyperchylomicronemia	LPL	LPL	https://raresource.nih.gov/literature/disease/0012241	0012241	238600	309015	C0023817	D008072	lipoprotein lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperlipoproteinemia, type I"	735
Isolated ectopia lentis	ectol1//ectopia lentis syndrome//familial ectopia lentis//iel//isolated lens position anomaly//nonsyndromic lens position anomaly	ADAMTSL4;FBN1	ADAMTSL4;FBN1	https://raresource.nih.gov/literature/disease/0012251	0012251		1885	C1851286	C536184	ADAMTS like 4; fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated ectopia lentis"	65
Channelopathy-associated congenital insensitivity to pain, autosomal recessive	asymbolia for pain//channelopathy-associated cip//congenital analgesia, autosomal recessive//congenital insensitivity to pain-anosmia-neuropathic arthropathy//insensitivity to pain, channelopathy-associated//insensitivity to pain, congenital//scn9a-related congenital insensitivity to pain	SCN9A	SCN9A	https://raresource.nih.gov/literature/disease/0012267	0012267	243000	88642	C1855739		sodium voltage-gated channel alpha subunit 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Channelopathy-associated congenital insensitivity to pain, autosomal recessive"	2
Chronic atrial and intestinal dysrhythmia	caid//caid (chronic atrial and intestinal dysrhythmia) syndrome//caid syndrome//chronic atrial and intestinal dysrhythmia syndrome//chronic atrial dysrhythmia-intestinal motility disorder	SGO1	SGO1	https://raresource.nih.gov/literature/disease/0012281	0012281	616201	435988	C4015474		shugoshin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic atrial and intestinal dysrhythmia"	34
Bradyopsia	difficulty seeing moving objects//perrs//prolonged electroretinal response suppression	RGS9;RGS9BP	RGS9;RGS9BP	https://raresource.nih.gov/literature/disease/0012299	0012299		75374	C1842073	C564243	regulator of G protein signaling 9; regulator of G protein signaling 9 binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bradyopsia"	18
Pelizaeus Merzbacher like disease	pmld//pmld - pelizaeus merzbacher like disease	MAL	MAL	https://raresource.nih.gov/literature/disease/0012300	0012300		280270	C4274084		mal, T cell differentiation protein (MAL blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus Merzbacher like disease"	99
Thomsen and Becker disease	myotonia congenita	CLCN1	CLCN1	https://raresource.nih.gov/literature/disease/0012301	0012301		614	CN311573	D009224	chloride voltage-gated channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thomsen and Becker disease"	453
Congenital lactase deficiency	alactasia, congenital//cld - congenital lactase deficiency//congenital alactasia//congenital alactasia syndrome//congenital lactose intolerance//congenital lactose malabsorption//disaccharide intolerance ii	LCT	LCT	https://raresource.nih.gov/literature/disease/0012311	0012311	223000	53690	C0268179	C562600	lactase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital lactase deficiency"	43
IMAGe syndrome	intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies//intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome//intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities//intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies//intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome	CDKN1C	CDKN1C	https://raresource.nih.gov/literature/disease/0012312	0012312	614732	85173	C1846009		cyclin dependent kinase inhibitor 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMAGe syndrome"	38
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	immunodeficiency 31c//immunodeficiency 31c, autosomal dominant//immunodeficiency 31c, chronic mucocutaneous candidiasis, autosomal dominant//immunodeficiency type 31c	STAT1	STAT1	https://raresource.nih.gov/literature/disease/0012314	0012314	614162	391487	C3279990		signal transducer and activator of transcription 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	None
Congenital disorder of deglycosylation 1	alacrimia-choreoathetosis-liver dysfunction syndrome//cdg1v//congenital disorder of glycosylation type iv//ngly1 deficiency//ngly1-cddg//ngly1-deficiency//ngly1-related congenital disorder of deglycosylation	NGLY1	NGLY1	https://raresource.nih.gov/literature/disease/0012315	0012315		404454	CN306977		N-glycanase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of deglycosylation 1"	90
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	alps due to ctla4 haploinsufficiency//alps due to ctla4 haploinsuffiency//alps type 5//alps type v//autoimmune lymphoproliferative syndrome 5//autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency//autoimmune lymphoproliferative syndrome due to cytotoxic t-lymphocyte associated protein 4 haploinsufficiency//autoimmune lymphoproliferative syndrome type 5//autoimmune lymphoproliferative syndrome type v//chai//ctla-4 haploinsufficiency with autoimmune infiltration disease//ctla4 haploinsufficiency//ctla4 haploinsufficiency with autoimmune infiltration//immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation	CTLA4	CTLA4	https://raresource.nih.gov/literature/disease/0012316	0012316	616100	436159	C4015214		cytotoxic T-lymphocyte associated protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"	22
Congenital sensory neuropathy with selective loss of small myelinated fibers	autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf//congenital insensitivity to pain and thermal analgesia//hereditary sensory and autonomic neuropathy type 5//hereditary sensory and autonomic neuropathy type v//hereditary sensory and autonomic neuropathy, type v//hsan type v//hsan v//hsan5//insensitivity to pain, congenital//ngf autosomal recessive hereditary sensory and autonomic neuropathy	NGF	NGF	https://raresource.nih.gov/literature/disease/0012328	0012328	608654	64752	C0020075		nerve growth factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital sensory neuropathy with selective loss of small myelinated fibers"	33
Transcobalamin II deficiency	inherited deficiency of transcobalamin//tc ii deficiency//tcn2 - transcobalamin ii deficiency//tcn2 deficiency//tcn2d//transcobalamin deficiency//transcolabamin ii deficiency	TCN2	TCN2	https://raresource.nih.gov/literature/disease/0012338	0012338	275350	859	C0342701		transcobalamin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transcobalamin II deficiency"	81
Dihydropyrimidinase deficiency	dihydropyrimidinuria//dihydrouracil amidohydrolase deficiency//dph deficiency//dpys deficiency//dpysd	DPYS	DPYS	https://raresource.nih.gov/literature/disease/0012347	0012347	222748	38874	C0342803		dihydropyrimidinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dihydropyrimidinase deficiency"	38
COG5-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type iii//cdg iii//cdg syndrome type iii//cdg-iii//cdg2i//cdg2i - carbohydrate deficient glycoprotein syndrome type iii//cog5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation//cog5-cdg//component of oligomeric golgi complex 5 congenital disorder of glycosylation//congenital disorder of glycosylation type 2i//congenital disorder of glycosylation type iii//congenital disorder of glycosylation, type iii	COG5	COG5	https://raresource.nih.gov/literature/disease/0012348	0012348	613612	263487	C3150876		component of oligomeric golgi complex 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG5-congenital disorder of glycosylation"	7
Autosomal recessive axonal neuropathy with neuromyotonia	aran-nm//arcmt2-nm//autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia//autosomal recessive neuromyotonia and axonal neuropathy//autosomal recessive neuromyotonia with axonal neuropathy//gamstorp-wohlfart syndrome//myokymia, myotonia and muscle wasting//myokymia, myotonia, and muscle wasting//neuromyotonia and axonal neuropathy, autosomal recessive//nman	HINT1	HINT1	https://raresource.nih.gov/literature/disease/0012353	0012353	137200	324442	C5700127		histidine triad nucleotide binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive axonal neuropathy with neuromyotonia"	10
Renal tubular acidosis, distal, 4, with hemolytic anemia	distal renal tubular acidosis 4 with hemolytic anaemia//distal renal tubular acidosis 4 with hemolytic anemia//distal renal tubular acidosis with anaemia//distal renal tubular acidosis with anemia//drta with anaemia//drta with anemia	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0012354	0012354	611590	93610	C5436235		solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal tubular acidosis, distal, 4, with hemolytic anemia"	None
Rienhoff syndrome	loeys-dietz syndrome 5//loeys-dietz syndrome type 5	TGFB3	TGFB3	https://raresource.nih.gov/literature/disease/0012356	0012356	615582		C3810012		transforming growth factor beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rienhoff syndrome"	4
STING-associated vasculopathy with onset in infancy	savi//sting-associated vasculopathy, infantile-onset	STING1	STING1	https://raresource.nih.gov/literature/disease/0012357	0012357	615934	425120	C4014722		stimulator of interferon response cGAMP interactor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=STING-associated vasculopathy with onset in infancy"	130
Microcytic anemia with liver iron overload	anemia, hypochromic microcytic, with iron overload 1//anemia, hypochromic microcytic, with iron overload type 1	SLC11A2	SLC11A2	https://raresource.nih.gov/literature/disease/0012360	0012360	206100	83642	C3806153		solute carrier family 11 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcytic anemia with liver iron overload"	None
Eosinophil peroxidase deficiency	eosinophil peroxidase deficiency, partial//epxd//peroxidase and phospholipid deficiency in eosinophils//presentey anomaly	EPX	EPX	https://raresource.nih.gov/literature/disease/0012361	0012361	261500		C1850000	C564893	eosinophil peroxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Eosinophil peroxidase deficiency"	9
Familial hyperaldosteronism type III	familial hyperaldosteronism type 3//fh iii//fh-iii//fh3	KCNJ5	KCNJ5	https://raresource.nih.gov/literature/disease/0012362	0012362	613677	251274	C3838758		potassium inwardly rectifying channel subfamily J member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperaldosteronism type III"	27
Spinocerebellar ataxia type 19/22	sca19//sca19/22//spinocerebellar ataxia 19//spinocerebellar ataxia 22//spinocerebellar ataxia type 19	KCND3	KCND3	https://raresource.nih.gov/literature/disease/0012365	0012365	607346	98772	C1846367	C537198;C542540	potassium voltage-gated channel subfamily D member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 19/22"	23
Spinocerebellar ataxia type 35	sca35	TGM6	TGM6	https://raresource.nih.gov/literature/disease/0012366	0012366	613908	276193	C3888031		transglutaminase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 35"	13
Spinocerebellar ataxia type 36	asidan//asidan ataxia//costa de morte ataxia//sca36//spinocerebellar ataxia 36	NOP56	NOP56	https://raresource.nih.gov/literature/disease/0012367	0012367	614153	276198	C3472711		NOP56 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 36"	40
Spinocerebellar ataxia type 37	sca37//spinocerebellar ataxia with altered vertical eye movement//spinocerebellar ataxia with altered vertical eye movements	DAB1	DAB1	https://raresource.nih.gov/literature/disease/0012368	0012368	615945	363710	C3889636		DAB adaptor protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 37"	10
Spinocerebellar ataxia type 38	sca38	ELOVL5	ELOVL5	https://raresource.nih.gov/literature/disease/0012369	0012369	615957	423296	C4518337		ELOVL fatty acid elongase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 38"	12
Spinocerebellar ataxia type 40	sca40	CCDC88C	CCDC88C	https://raresource.nih.gov/literature/disease/0012371	0012371	616053	423275	C4518336		coiled-coil domain containing 88C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 40"	7
Autosomal dominant cerebellar ataxia, deafness and narcolepsy	adca-dn syndrome//autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome//autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome	DNMT1	DNMT1	https://raresource.nih.gov/literature/disease/0012372	0012372	604121	314404	C3807295		DNA methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant cerebellar ataxia, deafness and narcolepsy"	5
Idiopathic CD4 lymphocytopenia	idiopathic cd4 lymphopenia//immunodeficiency 13//immunodeficiency type 13	UNC119	UNC119	https://raresource.nih.gov/literature/disease/0012375	0012375	615518	228000	C3809768		unc-119 lipid binding chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic CD4 lymphocytopenia"	194
Sudden infant death-dysgenesis of the testes syndrome	siddt//sudden infant death with dysgenesis of testes syndrome	TSPYL1	TSPYL1	https://raresource.nih.gov/literature/disease/0012382	0012382	608800	168593	C1837371	C563856	TSPY like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sudden infant death-dysgenesis of the testes syndrome"	4
Vasculitis due to ADA2 deficiency	ada2 deficiency//childhood-onset polyarteritis nodosa//dada2//polyarteritis nodosa, childhood-onset//polyarteritis nodosa, childhoood-onset//vaihs//vasculitis due to dada2//vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	ADA2	ADA2	https://raresource.nih.gov/literature/disease/0012383	0012383	615688	404553	C3887654		adenosine deaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vasculitis due to ADA2 deficiency"	229
Hypopigmentation-punctate palmoplantar keratoderma syndrome	cole disease//guttate hypopigmentation and punctate palmoplantar keratoderma//guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification//hypopigmentation and punctate keratosis of the palms and soles	ENPP1	ENPP1	https://raresource.nih.gov/literature/disease/0012384	0012384	615522	324561	C3809781		ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypopigmentation-punctate palmoplantar keratoderma syndrome"	14
Infertility associated with multi-tailed spermatozoa and excessive DNA	infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid//macrocephalic sperm head syndrome//male infertility due to large-headed multiflagellar polyploid spermatozoa//male infertility due to macrozoospermia//male infertility with large-headed, multiflagellar, polyploid spermatozoa//spermatogenic failure 5//spermatogenic failure type 5//spgf5	AURKC	AURKC	https://raresource.nih.gov/literature/disease/0012385	0012385	243060	137893	C0403812	C562903	aurora kinase C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infertility associated with multi-tailed spermatozoa and excessive DNA"	6
Developmental and epileptic encephalopathy, 26	dee26//early infantile epileptic encephalopathy 26//early infantile epileptic encephalopathy caused by mutation in kcnb1//eiee26//epileptic encephalopathy, early infantile, 26//epileptic encephalopathy, early infantile, type 26//kcnb1 early infantile epileptic encephalopathy	KCNB1	KCNB1	https://raresource.nih.gov/literature/disease/0012391	0012391	616056		C4015119		potassium voltage-gated channel subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 26"	1
DK1-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type 1m//carbohydrate deficient glycoprotein syndrome type im//cdg im//cdg syndrome type im//cdg-im//cdg1m//cdg1m - carbohydrate deficient glycoprotein syndrome type 1m//congenital disorder of glycosylation type 1m//congenital disorder of glycosylation type im//congenital disorder of glycosylation, type im//dk1 deficiency//dk1-cdg//dolichol kinase deficiency//dolk-cdg (cdg-im)//dolk-congenital disorder of glycosylation//hypotonia and ichthyosis due to dolichol phosphate deficiency	DOLK	DOLK	https://raresource.nih.gov/literature/disease/0012393	0012393	610768	91131	C1835849	C563666	dolichol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DK1-congenital disorder of glycosylation"	10
RFT1-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type in//cdg in//cdg syndrome type in//cdg-in//cdg1n//congenital disorder of glycosylation type 1n//congenital disorder of glycosylation type in//man5glcnac2-dolichylpyrophosphate flippase deficiency//man5glcnac2-pp-dol flippase deficiency//rft1-cdg//rft1-cdg (congenital disorder of glycosylation)	RFT1	RFT1	https://raresource.nih.gov/literature/disease/0012394	0012394	612015	244310	C2677590	C567437	RFT1 glycolipid translocator homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RFT1-congenital disorder of glycosylation"	4
DPM3-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type 1o//carbohydrate deficient glycoprotein syndrome type io//cdg io//cdg syndrome type io//cdg-io//cdg1(dpm3)//cdg1o//congenital disorder of glycosylation type 1o//congenital disorder of glycosylation type io//dpm3-cdg//dpm3-cdg - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation//mddgc15//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15	DPM3	DPM3	https://raresource.nih.gov/literature/disease/0012395	0012395	612937	263494	C2752007	C567857	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DPM3-congenital disorder of glycosylation"	1
ALG11-congenital disorder of glycosylation	alg11-cdg//alg11-cdg (cdg-ip)//alg11-cdg - asparagine-linked glycosylation 11 congenital disorder of glycosylation//asparagine-linked glycosylation 11 congenital disorder of glycosylation//carbohydrate deficient glycoprotein syndrome type ip//cdg syndrome type ip//cdg-ip//cdg1p//congenital disorder of glycosylation type 1p//congenital disorder of glycosylation type ip//congenital disorder of glycosylation, type ip	ALG11	ALG11	https://raresource.nih.gov/literature/disease/0012396	0012396	613661	280071	C3150913		ALG11 alpha-1,2-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG11-congenital disorder of glycosylation"	8
SRD5A3-congenital disorder of glycosylation	cdg iq//cdg syndrome type iq//cdg-iq//cdg1q//coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities//congenital disorder of glycosylation type 1q//congenital disorder of glycosylation type iq//ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities//srd5a3-cdg//srd5a3-cdg (cdg-iq)//srd5a3-cdg - steroid 5 alpha-reductase 3 congenital disorder of glycosylation	SRD5A3	SRD5A3	https://raresource.nih.gov/literature/disease/0012397	0012397	612379	324737	C4317224		steroid 5 alpha-reductase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SRD5A3-congenital disorder of glycosylation"	7
Congenital disorder of glycosylation type Ir	carbohydrate deficient glycoprotein syndrome type ir//cdg syndrome type ir//cdg-ir//cdg1r//congenital disorder of glycosylation type 1r//ddost-cdg//ddost-cdg (cdg-ir)//ddost-cdg - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation//ddost-congenital disorder of glycosylation//dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation	DDOST	DDOST	https://raresource.nih.gov/literature/disease/0012398	0012398	614507	300536	C3281084		dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation type Ir"	3
Developmental and epileptic encephalopathy, 36	alg13-cdg//alg13-cdg (congenital disorder of glycosylation)//cdg syndrome type is//cdg-is//cdg1s//congenital disorder of glycosylation type 1s//congenital disorder of glycosylation type is//congenital disorder of glycosylation, type is//dee36//eiee36//epileptic encephalopathy, early infantile, 36	ALG13	ALG13	https://raresource.nih.gov/literature/disease/0012401	0012401	300884	324422	C4317295		ALG13 UDP-N-acetylglucosaminyltransferase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 36"	10
SLC35A2-congenital disorder of glycosylation	cdg iim//cdg syndrome type iim//cdg-iim//cdg2m//cdg2m - congenital disorder of glycosylation type 2m//congenital disorder of glycosylation type 2m//congenital disorder of glycosylation type iim//congenital disorder of glycosylation, type iim//congenital disorder of glycosylation, type iim, somatic mosaic//congenital disorder of glycosylation, type iim, somatic mosaicism, x-linked dominant//developmental and epileptic encephalopathy 22//epileptic encephalopathy, early infantile, 22//slc35a2-cdg//slc35a2-cdg - solute carrier family 35 member a2 congenital disorder of glycosylation//solute carrier family 35 member a2 congenital disorder of glycosylation	SLC35A2	SLC35A2	https://raresource.nih.gov/literature/disease/0012403	0012403	300896	356961	C3806688		solute carrier family 35 member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SLC35A2-congenital disorder of glycosylation"	11
Alacrima, achalasia, and intellectual disability syndrome	aamr//alacrima, achalasia, and impaired intellectual development syndrome//alacrima, achalasia, and mental retardation syndrome//intellectual disability, alacrima, achalasia syndrome	GMPPA	GMPPA	https://raresource.nih.gov/literature/disease/0012404	0012404	615510		C4706563		GDP-mannose pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alacrima, achalasia, and intellectual disability syndrome"	49
SSR4-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type iy//cdg iy//cdg syndrome type iy//cdg-iy//cdg1y//congenital disorder of glycosylation type 1y//congenital disorder of glycosylation type iy//congenital disorder of glycosylation, type iy, x-linked recessive//signal sequence receptor subunit 4 congenital disorder of glycosylation//ssr4-cdg//ssr4-cdg - signal sequence receptor subunit 4 congenital disorder of glycosylation	SSR4	SSR4	https://raresource.nih.gov/literature/disease/0012405	0012405	300934	370927	C4012395		signal sequence receptor subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SSR4-congenital disorder of glycosylation"	7
SLC35A1-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type iif//cdg iif//cdg syndrome type iif//cdg-iif//cdg2f//cmp-sialic acid transporter deficiency//congenital disorder of glycosylation type 2f//congenital disorder of glycosylation type iif//congenital disorder of glycosylation, type iif//slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation//slc35a1-cdg//slc35a1-cdg (cdg-iif)//solute carrier family 35 member a1 congenital disorder of glycosylation	SLC35A1	SLC35A1	https://raresource.nih.gov/literature/disease/0012409	0012409	603585	238459	C1970344	C567040	solute carrier family 35 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SLC35A1-congenital disorder of glycosylation"	2
COG8-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type iih//cdg iih//cdg syndrome type iih//cdg-iih//cdg2h//cog8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation//cog8-cdg//cog8-cdg (cdg-iih)//component of oligomeric golgi complex 8 congenital disorder of glycosylation//congenital disorder of glycosylation type 2h//congenital disorder of glycosylation type iih	COG8	COG8	https://raresource.nih.gov/literature/disease/0012411	0012411	611182	95428	C1970021	C566987	component of oligomeric golgi complex 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG8-congenital disorder of glycosylation"	3
COG4-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type 2j//carbohydrate deficient glycoprotein syndrome type iij//cdg iij//cdg syndrome type iij//cdg-iij//cdg2j//cdg2j - carbohydrate deficient glycoprotein syndrome type 2j//cog4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation//cog4-cdg//component of oligomeric golgi complex 4 congenital disorder of glycosylation//congenital disorder of glycosylation type 2j//congenital disorder of glycosylation type iij//congenital disorder of glycosylation, type iij	COG4	COG4	https://raresource.nih.gov/literature/disease/0012412	0012412	613489	263501	C4303552		component of oligomeric golgi complex 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG4-congenital disorder of glycosylation"	None
TMEM165-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type 2k//carbohydrate deficient glycoprotein syndrome type iik//cdg iik//cdg syndrome type iik//cdg-iik//cdg2k//congenital disorder of glycosylation type 2k//congenital disorder of glycosylation type iik//tmem165-cdg//tmem165-cdg (cdg-iik)//tmem165-cdg - transmembrane protein 165 congenital disorder of glycosylation//transmembrane protein 165 congenital disorder of glycosylation	TMEM165	TMEM165	https://raresource.nih.gov/literature/disease/0012413	0012413	614727	314667	C3553571		transmembrane protein 165	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TMEM165-congenital disorder of glycosylation"	3
Congenital muscular dystrophy with intellectual disability and severe epilepsy	carbohydrate deficient glycoprotein syndrome type 1u//carbohydrate deficient glycoprotein syndrome type iu//cdg iu//cdg syndrome type iu//cdg-iu//cdg1u//cmd with intellectual disability and severe epilepsy//congenital disorder of glycosylation type 1u//congenital disorder of glycosylation type iu//dpm2-cdg//dpm2-cdg (cdg-iu)	DPM2	DPM2	https://raresource.nih.gov/literature/disease/0012416	0012416	615042	329178	C5190603		dolichyl-phosphate mannosyltransferase subunit 2, regulatory	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy with intellectual disability and severe epilepsy"	2
MAN1B1-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1b member 1//carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency//congenital disorder of glycosylation type 2 due to man1b1 deficiency//congenital disorder of glycosylation type ii due to man1b1 deficiency//intellectual disability-truncal obesity syndrome//man1b1-cdg//man1b1-cdg - mannosidase alpha class 1b member 1 deficiency congenital disorder of glycosylation	MAN1B1	MAN1B1	https://raresource.nih.gov/literature/disease/0012417	0012417		397941	C4518783		mannosidase alpha class 1B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MAN1B1-congenital disorder of glycosylation"	8
Pseudo-TORCH syndrome	band-like calcification with simplified gyration and polymicrogyria//baraitser-brett-piesowicz syndrome//baraitser-reardon syndrome//bilateral band-like calcification with polymicrogyria//blc-pmg//congenital intrauterine infection-like syndrome//microcephaly-intracranial calcification-intellectual disability syndrome	OCLN	OCLN	https://raresource.nih.gov/literature/disease/0012426	0012426		1229	C3489725		occludin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo-TORCH syndrome"	28
Charcot-Marie-Tooth disease axonal type 2N	aars charcot-marie-tooth disease type 2//autosomal dominant axonal charcot-marie-tooth disease type 2n//autosomal dominant charcot-marie-tooth disease type 2n//charcot-marie-tooth disease type 2 caused by mutation in aars//charcot-marie-tooth disease, axonal, autosomal dominant, type 2n//charcot-marie-tooth neuropathy axonal type 2n//charcot-marie-tooth neuropathy type 2n//charcot-marie-tooth neuropathy, axonal, type 2n//cmt2n	AARS1	AARS1	https://raresource.nih.gov/literature/disease/0012429	0012429	613287	228174	C2750090	C567653	alanyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2N"	5
Charcot-Marie-Tooth disease axonal type 2L	autosomal dominant axonal charcot-marie-tooth disease type 2l//autosomal dominant charcot-marie-tooth disease type 2l//charcot-marie-tooth disease type 2 caused by mutation in hspb8//charcot-marie-tooth disease, axonal, autosomal dominant, type 2l//charcot-marie-tooth neuropathy axonal type 2l//charcot-marie-tooth neuropathy type 2l//charcot-marie-tooth neuropathy, axonal, type 2l//cmt2l//hspb8 charcot-marie-tooth disease type 2	HSPB8	HSPB8	https://raresource.nih.gov/literature/disease/0012432	0012432	608673	99945	C1837552		heat shock protein family B (small) member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2L"	9
Charcot-Marie-Tooth disease axonal type 2O	autosomal dominant axonal charcot-marie-tooth disease type 2o//autosomal dominant charcot-marie-tooth disease type 2o//charcot-marie-tooth disease caused by mutation in dync1h1//charcot-marie-tooth disease, axonal, autosomal dominant, type 2o//charcot-marie-tooth disease, axonal, type 20//charcot-marie-tooth neuropathy axonal type 2o//charcot-marie-tooth neuropathy type 2o//charcot-marie-tooth neuropathy, axonal, type 2o//cmt2o//dync1h1 charcot-marie-tooth disease	DYNC1H1	DYNC1H1	https://raresource.nih.gov/literature/disease/0012434	0012434	614228	284232	C3280220		dynein cytoplasmic 1 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2O"	2
Charcot-Marie-Tooth disease axonal type 2P	autosomal dominant charcot-marie-tooth disease type 2g//charcot-marie-tooth disease caused by mutation in lrsam1//charcot-marie-tooth disease type 2p//charcot-marie-tooth disease, axonal, type 2g//charcot-marie-tooth neuropathy type 2g//charcot-marie-tooth neuropathy type 2p//charcot-marie-tooth neuropathy, type 2p//charcot-marie-toothe disease, axonal, type 2p//cmt 2g//cmt2p//cmt2p - charcot-marie-tooth disease type 2p//lrsam1 charcot-marie-tooth disease	LRSAM1	LRSAM1	https://raresource.nih.gov/literature/disease/0012435	0012435	614436	300319	C3280797		leucine rich repeat and sterile alpha motif containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2P"	11
Charcot-Marie-Tooth Disease, axonal, type 2GG	autosomal dominant intermediate charcot-marie-tooth disease type a//charcot-marie-tooth disease dominant intermediate a//charcot-marie-tooth disease dominant intermediate ii//charcot-marie-tooth disease dominant intermediate type a//charcot-marie-tooth neuropathy dominant intermediate a//charcot-marie-tooth neuropathy, axonal, type 2gg//charcot-marie-tooth neuropathy, type 2gg//cmt2gg//cmtdia//di-cmta	GBF1	GBF1	https://raresource.nih.gov/literature/disease/0012437	0012437	606483	100043	C5561933	C564702	golgi brefeldin A resistant guanine nucleotide exchange factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth Disease, axonal, type 2GG"	1
Charcot-Marie-Tooth disease dominant intermediate B	autosomal dominant intermediate charcot-marie-tooth disease type b//charcot-marie-tooth disease caused by mutation in dnm2//charcot-marie-tooth disease dominant intermediate 1//charcot-marie-tooth disease dominant intermediate i//charcot-marie-tooth disease dominant intermediate type b//charcot-marie-tooth disease, axonal type 2m//charcot-marie-tooth disease, dominant intermediate type b//charcot-marie-tooth neuropathy dominant intermediate b//charcot-marie-tooth neuropathy, dominant intermediate b//cmt di1//cmtdi1//cmtdib//di-cmtb//dnm2 charcot-marie-tooth disease	DNM2	DNM2	https://raresource.nih.gov/literature/disease/0012438	0012438	606482	100044	C1847902		dynamin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease dominant intermediate B"	4
Charcot-Marie-Tooth disease dominant intermediate C	autosomal dominant intermediate charcot-marie-tooth disease type c//charcot-marie-tooth disease caused by mutation in yars//charcot-marie-tooth disease dominant intermediate type c//charcot-marie-tooth disease, dominant intermediate type c//charcot-marie-tooth neuropathy dominant intermediate c//charcot-marie-tooth neuropathy, dominant intermediate c//cmtdic//di-cmtc//yars charcot-marie-tooth disease	YARS1	YARS1	https://raresource.nih.gov/literature/disease/0012439	0012439	608323	100045	C1842237	C564257	tyrosyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease dominant intermediate C"	11
Charcot-Marie-Tooth disease type 4F	charcot-marie-tooth disease type 4 caused by mutation in prx//charcot-marie-tooth disease, demyelinating, type 4f//charcot-marie-tooth neuropathy type 4f//cmt4f//prx charcot-marie-tooth disease type 4	PRX	PRX	https://raresource.nih.gov/literature/disease/0012441	0012441	614895	99952	C3540453		periaxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4F"	19
Charcot-Marie-Tooth disease type 4H	autosomal recessive charcot-marie-tooth disease type 4h//autosomal recessive demyelinating charcot-marie-tooth disease type 4h//charcot-marie-tooth disease type 4 caused by mutation in fgd4//charcot-marie-tooth disease, autosomal recessive, type 4h//charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h//charcot-marie-tooth disease, demyelinating, type 4h//charcot-marie-tooth neuropathy type 4h//charcot-marie-tooth neuropathy, type 4h//cmt4h//fgd4 charcot-marie-tooth disease type 4	FGD4	FGD4	https://raresource.nih.gov/literature/disease/0012442	0012442	609311	99954	C1836336	C563740	FYVE, RhoGEF and PH domain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4H"	15
Charcot-Marie-Tooth disease type 4J	autosomal recessive charcot-marie-tooth disease type 4j//charcot-marie-tooth disease type 4 caused by mutation in fig4//charcot-marie-tooth disease, autosomal recessive, type 4j//charcot-marie-tooth disease, demyelinating, type 4j//charcot-marie-tooth neuropathy type 4j//cmt4j//fig4 charcot-marie-tooth disease type 4	FIG4	FIG4	https://raresource.nih.gov/literature/disease/0012443	0012443	611228	139515	C1970011	C566984	FIG4 phosphoinositide 5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4J"	41
Charcot-Marie-Tooth disease X-linked dominant 6	charcot-marie-tooth disease x-linked dominant type 6//charcot-marie-tooth disease, x-linked dominant, 6, x-linked dominant//charcot-marie-tooth disease, x-linked dominant, type 6//charcot-marie-tooth neuropathy x-linked dominant 6//charcot-marie-tooth neuropathy, x-linked dominant, 6//cmt6x//cmtx6//x-linked charcot-marie-tooth disease type 6	PDK3	PDK3	https://raresource.nih.gov/literature/disease/0012445	0012445	300905	352675	C3806702		pyruvate dehydrogenase kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease X-linked dominant 6"	4
Charcot-Marie-Tooth disease axonal type 2Q	autosomal dominant axonal charcot-marie-tooth disease type 2q//autosomal dominant charcot-marie-tooth disease type 2q//charcot-marie-tooth disease caused by mutation in dhtkd1//charcot-marie-tooth disease, axonal, autosomal dominant, type 2q//charcot-marie-tooth neuropathy type 2q//charcot-marie-tooth neuropathy, type 2q//cmt2q//dhtkd1 charcot-marie-tooth disease	DHTKD1	DHTKD1	https://raresource.nih.gov/literature/disease/0012446	0012446	615025	329258	C3554366		dehydrogenase E1 and transketolase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2Q"	5
Giant axonal neuropathy 2	autosomal dominant charcot-marie-tooth disease type 2 with giant axons//autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons//cmt2 with giant axons//dcaf8 giant axonal neuropathy//giant axonal neuropathy 2, autosomal dominant//giant axonal neuropathy caused by mutation in dcaf8//giant axonal neuropathy type 2//hmsn2 with giant axons	DCAF8	DCAF8	https://raresource.nih.gov/literature/disease/0012447	0012447	610100	401964	C1864695		DDB1 and CUL4 associated factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Giant axonal neuropathy 2"	None
Charcot-Marie-Tooth disease axonal type 2K	arcmt2k//autosomal recessive axonal charcot-marie-tooth disease disease type 2k//autosomal recessive axonal charcot-marie-tooth disease type 2k//autosomal recessive axonal cmt4c4//autosomal recessive charcot-marie-tooth disease with hoarseness//charcot-marie-tooth disease type 2k//charcot-marie-tooth disease, axonal, autosomal dominant, type 2k//charcot-marie-tooth disease, axonal, autosomal recessive, type 2k//charcot-marie-tooth neuropathy axonal type 2k//charcot-marie-tooth neuropathy, axonal, type 2k//cmt2k	GDAP1	GDAP1	https://raresource.nih.gov/literature/disease/0012448	0012448	607831	101097	C1842983		ganglioside induced differentiation associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2K"	11
Charcot-Marie-Tooth disease type 2R	autosomal recessive axonal charcot-marie-tooth disease type 2r//charcot-marie-tooth disease type 2 caused by mutation in trim2//charcot-marie-tooth disease, axonal, autosomal recessive, type 2r//charcot-marie-tooth disease, axonal, type 2r//charcot-marie-tooth neuropathy type 2r//charcot-marie-tooth neuropathy, type 2r//cmt2r//trim2 charcot-marie-tooth disease type 2	TRIM2	TRIM2	https://raresource.nih.gov/literature/disease/0012451	0012451	615490	397968	C3809655		tripartite motif containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2R"	None
Charcot-Marie-Tooth disease recessive intermediate A	autosomal recessive intermediate charcot-marie-tooth disease type a//charcot-marie-tooth disease caused by mutation in gdap1//charcot-marie-tooth disease recessive intermediate type a//charcot-marie-tooth disease, recessive intermediate type a//charcot-marie-tooth neuropathy recessive intermediate a//charcot-marie-tooth neuropathy, recessive intermediate a//cmtria//gdap1 charcot-marie-tooth disease//ri-cmt type a//ri-cmta	GDAP1	GDAP1	https://raresource.nih.gov/literature/disease/0012453	0012453	608340	217055	C1842197	C564256	ganglioside induced differentiation associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease recessive intermediate A"	None
Charcot-Marie-Tooth disease recessive intermediate B	autosomal recessive intermediate charcot-marie-tooth disease type b//charcot-marie-tooth disease caused by mutation in kars//charcot-marie-tooth disease recessive intermediate type b//charcot-marie-tooth disease, recessive intermediate type b//charcot-marie-tooth neuropathy recessive intermediate b//charcot-marie-tooth neuropathy, recessive intermediate b//cmtrib//kars charcot-marie-tooth disease//kars-related intermediate charcot-marie-tooth neuropathy//ri-cmt type b//ri-cmtb	KARS1	KARS1	https://raresource.nih.gov/literature/disease/0012454	0012454	613641	254334	C3150897		lysyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease recessive intermediate B"	None
Sickle cell-hemoglobin D disease	double heterozygous for hb s + hb d punjab//hbs-hbd disease//hbsd disease//hemoglobin s-d disease//hemoglobin s/d punjab disease//hemoglobin sd//sickle cell anemia with hemoglobin d disease//sickle cell hemoglobin d//sickle cell-hemoglobin d disease syndrome	HBB	HBB	https://raresource.nih.gov/literature/disease/0012458	0012458		251370	C0272084		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sickle cell-hemoglobin D disease"	15
Glutaryl-CoA oxidase deficiency	ga iii//glutaric acidemia type 3//glutaric aciduria (disease) caused by mutation in sugct//glutaric aciduria iii//glutaric aciduria type 3//glutaryl-coenzyme a oxidase deficiency//sugct glutaric aciduria (disease)//sugct-gene related glutaryl-coenzyme a oxidase deficiency	SUGCT	SUGCT	https://raresource.nih.gov/literature/disease/0012469	0012469	231690	35706	C0342873	C562818	succinyl-CoA:glutarate-CoA transferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaryl-CoA oxidase deficiency"	10
Sterol carrier protein 2 deficiency	deficiency of sterol carrier protein x//leukoencephalopathy with dystonia and motor neuropathy//leukoencephalopathy, dystonia, motor neuropathy syndrome//leukoencephalopathy-dystonia-motor neuropathy syndrome//scp2 deficiency//scpx (sterol carrier protein x) deficiency//sterol carrier protein x deficiency	SCP2	SCP2	https://raresource.nih.gov/literature/disease/0012471	0012471	613724	163684	C3150990		sterol carrier protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sterol carrier protein 2 deficiency"	5
Ehlers-Danlos syndrome, periodontitis type	eds viii//ehlers-danlos syndrome type 8//ehlers-danlos syndrome type viii//ehlers-danlos syndrome, periodontosis type//ehlers-danlos syndrome, type 8//peds//periodontal eds//periodontal ehlers-danlos syndrome//periodontitis associated with ehlers-danlos syndrome type viii	C1R;C1S	C1R;C1S	https://raresource.nih.gov/literature/disease/0012474	0012474		75392	C0268347	C562626	complement C1r; complement C1s	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, periodontitis type"	144
Platelet-type bleeding disorder 8	adp platelet receptor p2y12 defect//bdplt8//bleeding disorder due to adp platelet receptor p2y12 defect//bleeding disorder due to p2rx1 defect, somatic//bleeding disorder due to p2ry12 defect//bleeding disorder due to p2y12 defect//p2y12 defect	P2RY12	P2RY12	https://raresource.nih.gov/literature/disease/0012478	0012478	609821	36355	C1853278	C565220	purinergic receptor P2Y12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 8"	1
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia//corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, x-linked recessive//corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia//corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia//corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia//graham-cox syndrome//intellectual disability, x-linked, syndromic 28//mental retardation, x-linked, syndromic 28//mrxs28	IGBP1	IGBP1	https://raresource.nih.gov/literature/disease/0012486	0012486	300472	52055	C1845446	C564509	immunoglobulin binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	None
X-linked lissencephaly with abnormal genitalia	lissencephaly, x-linked, type 2//x-linked lissencephaly with abnormal genitalia syndrome//x-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome//x-linked lissencephaly with ambiguous genitalia//x-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome//x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome//xlag (x-linked lissencephaly with abnormal genitalia) syndrome	ARX	ARX	https://raresource.nih.gov/literature/disease/0012491	0012491	300215	452	C1846171	C564563	aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked lissencephaly with abnormal genitalia"	17
Aromatase excess syndrome	aexs//aromatase activity, increased//familial gynecomastia, due to increased aromatase activity//familial hyperestrogenism//gynecomastia, familial, due to increased aromatase activity//gynecomastia, hereditary//hereditary prepubertal gynecomastia//increased aromatase activity	CYP19A1	CYP19A1	https://raresource.nih.gov/literature/disease/0012494	0012494	139300	178345	C1970109	C000591739	cytochrome P450 family 19 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aromatase excess syndrome"	27
Intellectual disability-severe speech delay-mild dysmorphism syndrome	foxp1 haploinsufficiency//foxp1 syndrome//foxp1-related neurodevelopmental disorder//iddla//intellectual developmental disorder with language impairment and with or without autistic features//mental retardation with language impairment and autistic features	FOXP1	FOXP1	https://raresource.nih.gov/literature/disease/0012501	0012501	613670	391372	C4013764		forkhead box P1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-severe speech delay-mild dysmorphism syndrome"	29
Male infertility due to globozoospermia	male infertility due to round-headed spermatozoa//round-headed sperm syndrome	SPATA16;DPY19L2;ZPBP;PICK1;C2CD6;GGN;SEPTIN4	SPATA16;DPY19L2;ZPBP;PICK1;C2CD6;GGN;SEPTIN4	https://raresource.nih.gov/literature/disease/0012502	0012502		171709	C5679591		spermatogenesis associated 16; dpy-19 like 2; zona pellucida binding protein; protein interacting with PRKCA 1; C2 calcium dependent domain containing 6; gametogenetin; septin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Male infertility due to globozoospermia"	4
Gaucher disease due to saposin C deficiency	atypical gaucher disease due to saposin c deficiency//atypical gaucher's disease due to saposin c deficiency//gaucher disease caused by mutation in psap//psap gaucher disease//saposin c deficiency	PSAP	PSAP	https://raresource.nih.gov/literature/disease/0012503	0012503	610539	309252	C1864651	C566435	prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease due to saposin C deficiency"	19
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	cardiovascular gaucher disease//gaucher disease type 3c//gaucher disease, cardiovascular form//gaucher disease, type iiic//gaucher-like disease	GBA1	GBA1	https://raresource.nih.gov/literature/disease/0012504	0012504	231005	2072	C1856476	C565553	glucosylceramidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"	11
Combined PSAP deficiency	combined prosaposin deficiency//combined sap deficiency//encephalopathy due to prosaposin deficiency//prosaposin deficiency//psapd	PSAP	PSAP	https://raresource.nih.gov/literature/disease/0012505	0012505	611721	139406	C2673635	C567125	prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined PSAP deficiency"	22
X-linked complicated spastic paraplegia type 1	spg1	L1CAM	L1CAM	https://raresource.nih.gov/literature/disease/0012525	0012525		306617	C5779711		L1 cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked complicated spastic paraplegia type 1"	10
X-linked complicated corpus callosum dysgenesis	corpus callosum, partial agenesis of, x-linked recessive	L1CAM	L1CAM	https://raresource.nih.gov/literature/disease/0012526	0012526	304100	1497	C1839909	C564115	L1 cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked complicated corpus callosum dysgenesis"	None
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	autosomal dominant limb-girdle muscular dystrophy caused by mutation in dnajb6//autosomal dominant limb-girdle muscular dystrophy type 1d//dnajb6 autosomal dominant limb-girdle muscular dystrophy//dnajb6-related lgmd d1//dnajb6-related limb-girdle muscular dystrophy d1//lgmd type 1d//lgmd1d//lgmd1d (dnajb6)//lgmdd1//limb-girdle muscular dystrophy type 1d//muscular dystrophy, autosomal dominant, with rimmed vacuoles//muscular dystrophy, limb-girdle, autosomal dominant 1//muscular dystrophy, limb-girdle, type 1d	DNAJB6	DNAJB6	https://raresource.nih.gov/literature/disease/0012528	0012528	603511	34516	C4721885	C566370	DnaJ heat shock protein family (Hsp40) member B6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"	31
Autosomal dominant limb-girdle muscular dystrophy type 1F	lgmd type 1f//lgmd1f//lgmdd2//limb-girdle muscular dystrophy type 1f//limb-girdle muscular dystrophy, type 1f//muscular dystrophy limb-girdle type 1f//muscular dystrophy, limb-girdle, autosomal dominant 2//tnp03-related limb-girdle muscular dystrophy d2	TNPO3	TNPO3	https://raresource.nih.gov/literature/disease/0012530	0012530	608423	55595	C1842062	C564242	transportin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant limb-girdle muscular dystrophy type 1F"	10
Autosomal dominant limb-girdle muscular dystrophy type 1G	autosomal dominant limb-girdle muscular dystrophy caused by mutation in hnrnpdl//hnrnpdl autosomal dominant limb-girdle muscular dystrophy//hnrnpdl-related lgmd d3//hnrnpdl-related limb-girdle muscular dystrophy d3//lgmd type 1g//lgmd1g//lgmdd3//limb-girdle muscular dystrophy type 1g//limb-girdle muscular dystrophy, type 1g//muscular dystrophy limb-girdle type 1g//muscular dystrophy, limb-girdle, autosomal dominant 3	HNRNPDL	HNRNPDL	https://raresource.nih.gov/literature/disease/0012531	0012531	609115	55596	C1836765	C563794	heterogeneous nuclear ribonucleoprotein D like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant limb-girdle muscular dystrophy type 1G"	3
Autosomal recessive limb-girdle muscular dystrophy type 2I	autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp//fkrp autosomal recessive limb-girdle muscular dystrophy//fkrp-related lgmd r9//fkrp-related limb-girdle muscular dystrophy r9//lgmd due to fkrp deficiency//lgmd type 2i//lgmd-fkrp related//lgmd2i//limb girdle muscular dystrophy due to deficiency of fukutin related protein//limb-girdle muscular dystrophy due to fkrp deficiency//limb-girdle muscular dystrophy type 2i//mddgc5//muscular dystrophy limb-girdle type 2i//muscular dystrophy, limb-girdle, type 2i//muscular dystrophy-dystroglycanopathy (limb-girdle) type c 5//muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 5//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5//muscular dystrophy-dystroglycanopathy (limb-girdle), type c5//muscular dystrophy-dystroglycanopathy limb-girdle frkp-related//muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related	FKRP	FKRP	https://raresource.nih.gov/literature/disease/0012533	0012533	607155	34515	C1846672	C564612	fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2I"	100
Autosomal recessive limb-girdle muscular dystrophy type 2J	autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn//lgmd type 2j//lgmd2j//lgmdr10//limb-girdle muscular dystrophy 2j titin gene mutation//limb-girdle muscular dystrophy type 2j//limb-girdle muscular dystrophy, type 2j//muscular dystrophy, limb-girdle, autosomal recessive 10//muscular dystrophy, limb-girdle, type 2j//titin-related lgmd r10//titin-related limb-girdle muscular dystrophy r10//ttn autosomal recessive limb-girdle muscular dystrophy	TTN	TTN	https://raresource.nih.gov/literature/disease/0012534	0012534	608807	140922	C1837342	C563854	titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2J"	11
Autosomal recessive limb-girdle muscular dystrophy type 2K	autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt1//lgmd type 2k//lgmd-pomt1 related//lgmd2k//limb girdle muscular dystrophy with intellectual disability syndrome//limb-girdle muscular dystrophy type 2k//limb-girdle muscular dystrophy-intellectual disability syndrome//mddgc1//muscular dystrophy limb-girdle type 2k//muscular dystrophy, limb-girdle, type 2k//muscular dystrophy-dystroglycanopathy (limb-girdle) type c 1//muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 1//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1//pomt1 autosomal recessive limb-girdle muscular dystrophy//pomt1-related lgmd r11//pomt1-related limb-girdle muscular dystrophy r11	POMT1	POMT1	https://raresource.nih.gov/literature/disease/0012535	0012535	609308	86812	C1836373		protein O-mannosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2K"	2
Autosomal recessive limb-girdle muscular dystrophy type 2L	ano5 autosomal recessive limb-girdle muscular dystrophy//anoctamin-5-related lgmd r12//anoctamin-5-related limb-girdle muscular dystrophy r12//autosomal recessive limb-girdle muscular dystrophy caused by mutation in ano5//lgmd type 2l//lgmd2l//lgmdr12//limb-girdle muscular dystrophy type 2l//limb-girdle muscular dystrophy, type 2l//muscular dystrophy, limb-girdle, autosomal recessive 12//muscular dystrophy, limb-girdle, type 2l	ANO5	ANO5	https://raresource.nih.gov/literature/disease/0012536	0012536	611307	206549	C1969785	C566968	anoctamin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2L"	35
Autosomal recessive limb-girdle muscular dystrophy type 2M	autosomal recessive lgmd type 2m//autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn//fktn autosomal recessive limb-girdle muscular dystrophy//fukutin-related lgmd r13//fukutin-related limb-girdle muscular dystrophy r13//lgmd type 2m//lgmd-fktn related//lgmd2m//mddgc4//muscular dystrophy, limb-girdle, type 2m//muscular dystrophy-dystroglycanopathy (limb-girdle) type c 4//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4	FKTN	FKTN	https://raresource.nih.gov/literature/disease/0012538	0012538	611588	206554	C1969040	C566912	fukutin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2M"	4
Autosomal recessive limb-girdle muscular dystrophy type 2N	autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2//lgmd type 2n//lgmd-pomt2 related//lgmd2n//limb-girdle muscular dystrophy type 2n//mddgc2//muscular dystrophy-dystroglycanopathy (limb-girdle) type c 2//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2//muscular dystrophy-dystroglycanopathy limb-girdle pomt2-related//muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related//pomt2 autosomal recessive limb-girdle muscular dystrophy//pomt2-related lgmd r14//pomt2-related limb-girdle muscular dystrophy r14	POMT2	POMT2	https://raresource.nih.gov/literature/disease/0012539	0012539	613158	206559	C3150418		protein O-mannosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2N"	3
Autosomal recessive limb-girdle muscular dystrophy type 2O	autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomgnt1//lgmd type 2o//lgmd-pomgnt1 related//lgmd2o//limb-girdle muscular dystrophy 2o pomgnt1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation//limb-girdle muscular dystrophy 2o pomgnt1 gene mutation//limb-girdle muscular dystrophy type 2o//limb-girdle muscular dystrophy type 3c//mddgc3//muscular dystrophy-dystroglycanopathy (limb-girdle) type c3//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3//muscular dystrophy-dystroglycanopathy limb-girdle pomgnt1-related//muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related//pomgnt1 autosomal recessive limb-girdle muscular dystrophy//pomgnt1-related lgmd r15//pomgnt1-related limb-girdle muscular dystrophy r15	POMGNT1	POMGNT1	https://raresource.nih.gov/literature/disease/0012540	0012540	613157	206564	C3150417		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2O"	1
Autosomal recessive limb-girdle muscular dystrophy type 2P	alpha-dystroglycan-related lgmd r16//alpha-dystroglycan-related limb-girdle muscular dystrophy r16//autosomal recessive limb-girdle muscular dystrophy caused by mutation in dag1//dag1 autosomal recessive limb-girdle muscular dystrophy//lgmd type 2p//lgmd2p//limb-girdle muscular dystrophy type 2p//limb-girdle muscular dystrophy type 9c//mddgc9//muscular dystrophy, limb-girdle, type 2p//muscular dystrophy-dystroglycanopathy (limb-girdle) type c9//muscular dystrophy-dystroglycanopathy limb-girdle dag1-related//muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related	DAG1	DAG1	https://raresource.nih.gov/literature/disease/0012541	0012541	613818	280333	C4511963		dystroglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2P"	3
Autosomal recessive limb-girdle muscular dystrophy type 2Q	autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency//lgmd type 2q//lgmd2q//lgmdr17//limb-girdle muscular dystrophy type 2q//muscular dystrophy, limb-girdle, autosomal recessive 17//muscular dystrophy, limb-girdle, type 2q//plectin-related lgmd r17//plectin-related limb-girdle muscular dystrophy r17	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0012542	0012542	613723	254361	C3150989		plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2Q"	7
Autosomal recessive limb-girdle muscular dystrophy type R18	autosomal recessive limb girdle muscular dystrophy type 2s//autosomal recessive limb-girdle muscular dystrophy caused by mutation in trappc11//autosomal recessive limb-girdle muscular dystrophy type 2s//lgmd type 2s//lgmd2s//lgmdr18//limb-girdle muscular dystrophy type 2s//limb-girdle muscular dystrophy, type 2s//muscular dystrophy, limb-girdle, autosomal recessive 18//muscular dystrophy, limb-girdle, type 2s//trappc11 autosomal recessive limb-girdle muscular dystrophy//trappc11-related lgmd r18//trappc11-related limb-girdle muscular dystrophy r18	TRAPPC11	TRAPPC11	https://raresource.nih.gov/literature/disease/0012543	0012543	615356	369840	C4517996		trafficking protein particle complex subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type R18"	3
Autosomal recessive limb-girdle muscular dystrophy type 2T	autosomal recessive limb-girdle muscular dystrophy caused by mutation in gmppb//gmppb autosomal recessive limb-girdle muscular dystrophy//gmppb-related lgmd r19//gmppb-related limb-girdle muscular dystrophy r19//lgmd type 2t//lgmd-gmppb related//lgmd2t//limb-girdle muscular dystrophy type 2t//limb-girdle muscular dystrophy-dystroglycanopathy, type c14//mddgc14//muscular dystrophy limb-girdle type 2t//muscular dystrophy, limb-girdle, type 2t//muscular dystrophy-dystroglycanopathy (limb-girdle) type c14//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14//muscular dystrophy-dystroglycanopathy limb-girdle gmppb-related//muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related	GMPPB	GMPPB	https://raresource.nih.gov/literature/disease/0012544	0012544	615352	363623	C4518000		GDP-mannose pyrophosphorylase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2T"	3
Adermatoglyphia	aderm//congenital absence of fingerprints//fingerprints, absence of//immigration delay disease//isolated congenital adermatoglyphia	SMARCAD1	SMARCAD1	https://raresource.nih.gov/literature/disease/0012550	0012550	136000	289465	C1852150	C565010	SNF2 related chromatin remodeling ATPase with DExD box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adermatoglyphia"	29
Bimanual synkinesia	familial congenital controlateral synkinesia//familial congenital mirror movements//hand mirror movements//hereditary congenital controlateral synkinesia//hereditary congenital mirror movements//isolated congenital controlateral synkinesia//isolated congenital mirror movements//mirror hand movements//mirror movements//mirror movements, congenital	NTN1;RAD51;DNAL4;DCC	NTN1;RAD51;DNAL4;DCC	https://raresource.nih.gov/literature/disease/0012551	0012551		238722	C0454455		netrin 1; RAD51 recombinase; dynein axonemal light chain 4; DCC netrin 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bimanual synkinesia"	68
Intellectual disability, autosomal dominant 5	autosomal dominant intellectual disability 5//autosomal dominant mental retardation 5//autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1//epilepsy due to syngap mutations//intellectual developmental disorder, autosomal dominant 5//intellectual disability, autosomal dominant type 5//mental retardation, autosomal dominant 5//mental retardation, autosomal dominant type 5//mrd5//synaptic ras gtpase activating protein 1-related developmental and epileptic encephalopathy//syngap1 autosomal dominant non-syndromic intellectual disability//syngap1-related developmental and epileptic encephalopathy	SYNGAP1	SYNGAP1	https://raresource.nih.gov/literature/disease/0012558	0012558	612621	544254	C2675473	C567234	synaptic Ras GTPase activating protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 5"	7
Hurler syndrome	dysostosis multiplex syndrome//gargoylism//gargoylism, hurler syndrome//hurler disease//hurler disease mps type 1h//hurler's syndrome//hurler-pfaundler syndrome//l-iduronidase deficiency, hurler type//mps 1-h - mucopolysaccharidosis type i-h//mps i h//mps1h//mpsih//mucopolysaccharidosis type 1h//mucopolysaccharidosis type i severe form//mucopolysaccharidosis type i-h//mucopolysaccharidosis type ih//mucopolysaccharidosis, mps-i-h	IDUA	IDUA	https://raresource.nih.gov/literature/disease/0012559	0012559	607014	93473	C0086795		alpha-L-iduronidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hurler syndrome"	885
Mucopolysaccharidosis, MPS-I-H/S	hurler-scheie disease mps type 1h/s//hurler-scheie syndrome//l-iduronidase deficiency, hurler-scheie type//mps i h-s//mps1h/s//mpsih/s//mucopolysaccharidosis type 1h/s//mucopolysaccharidosis type i-h/s//mucopolysaccharidosis type ih/s	IDUA	IDUA	https://raresource.nih.gov/literature/disease/0012560	0012560	607015	93476	C0086431		alpha-L-iduronidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-I-H/S"	75
Mucopolysaccharidosis, MPS-I-S	l-iduronidase deficiency, scheie type//mps 1-s - mucopolysaccharidosis type i-s//mps i s//mps v//mps1s//mpsis//mucopolysaccharidosis type 1s//mucopolysaccharidosis type i mild form//mucopolysaccharidosis type i-s//mucopolysaccharidosis type is//mucopolysaccharidosis type v//scheie disease mps type 1s//scheie syndrome//scheie's syndrome	IDUA	IDUA	https://raresource.nih.gov/literature/disease/0012561	0012561	607016	93474	C0026708		alpha-L-iduronidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, MPS-I-S"	122
PLA2G6-associated neurodegeneration	neurodegeneration with brain iron accumulation caused by mutation in pla2g6//phospholipase a2-associated neurodegeneration//pla2g6 neurodegeneration with brain iron accumulation//plan	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0012567	0012567		329303	CN204472		phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PLA2G6-associated neurodegeneration"	161
Autosomal recessive Parkinson disease 14	adult-onset dystonia parkinsonism//adult-onset dystonia-parkinsonism//autosomal recessive parkinson disease type 14//dystonia parkinsonism paisan-ruiz type//dystonia-parkinsonism adult-onset//dystonia-parkinsonism, adult-onset//dystonia-parkinsonism, paisan-ruiz type//hereditary late onset parkinson disease caused by mutation in pla2g6//park14//parkinson disease 14//pla2g6 (phospholipase a2 group vi) related dystonia parkinsonism//pla2g6 hereditary late onset parkinson disease//pla2g6-related dystonia-parkinsonism	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0012568	0012568	612953	199351	C2751842	C567844	phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Parkinson disease 14"	14
Neurodegeneration with brain iron accumulation 4	c19orf12 neurodegeneration with brain iron accumulation//mitochondrial membrane protein associated neurodegeneration//mitochondrial membrane protein-associated neurodegeneration//mitochondrial protein associated neurodegeneration//mitochondrial protein-associated neurodegeneration//mpan//nbia due to c19orf12 mutation//nbia4//neurodegeneration with brain iron accumulation caused by mutation in c19orf12//neurodegeneration with brain iron accumulation due to c19orf12 mutation//neurodegeneration with brain iron accumulation type 4	C19orf12	C19orf12	https://raresource.nih.gov/literature/disease/0012569	0012569	614298	289560	C3280371		chromosome 19 open reading frame 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 4"	93
Neurodegeneration with brain iron accumulation 5	beta-propeller protein-associated neurodegeneration//bpan//bpan - beta-propeller protein-associated neurodegeneration//nbia5//neurodegeneration with brain iron accumulation 5, x-linked dominant//neurodegeneration with brain iron accumulation caused by mutation in wdr45//neurodegeneration with brain iron accumulation type 5//senda//static encephalopathy of childhood with neurdegeneration in adulthood//static encephalopathy of childhood with neurodegeneration in adulthood//wdr45 neurodegeneration with brain iron accumulation	WDR45	WDR45	https://raresource.nih.gov/literature/disease/0012570	0012570	300894	329284	C3550973		WD repeat domain 45	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 5"	139
Neurodegeneration with brain iron accumulation 6	coasy neurodegeneration with brain iron accumulation//coasy protein-associated neurodegeneration//coenzyme a synthase protein associated neurodegeneration//copan//copan - coenzyme a synthase protein associated neurodegeneration//nbia6//neurodegeneration with brain iron accumulation caused by mutation in coasy//neurodegeneration with brain iron accumulation due to coasy mutation//neurodegeneration with brain iron accumulation type 6	COASY	COASY	https://raresource.nih.gov/literature/disease/0012571	0012571	615643	397725	C4517377		Coenzyme A synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 6"	17
Congenital muscular dystrophy due to LMNA mutation	congenital muscular dystrophy caused by mutation in lmna//congenital muscular dystrophy due to lamin a/c mutation//congenital muscular dystrophy due to lmna (lamin a/c) mutation//congenital muscular dystrophy lmna-related//congenital muscular dystrophy, lmna-related//l-cmd//lamin a-related congenital muscular dystrophy//lmna congenital muscular dystrophy//lmna-related congenital muscular dystrophy//muscular dystrophy congenital, lmna-related//muscular dystrophy, congenital	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0012585	0012585	613205	157973	C2750785	C567708	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy due to LMNA mutation"	31
Congenital muscular dystrophy due to integrin alpha-7 deficiency	congenital muscular dystrophy caused by mutation in itga7//congenital muscular dystrophy with integrin alpha-7 deficiency//congenital muscular dystrophy with itga7 (integrin alpha-7) deficiency//congenital muscular dystrophy with itga7 deficiency//congenital myopathy due to integrin alpha-7 deficiency//itga7 congenital muscular dystrophy//muscular dystrophy, congenital, due to itga7 deficiency//myopathy, congenital, due to integrin alpha-7 deficiency	ITGA7	ITGA7	https://raresource.nih.gov/literature/disease/0012587	0012587	613204	34520	C2750786	C567709	integrin subunit alpha 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy due to integrin alpha-7 deficiency"	None
Congenital fibrosis of extraocular muscles	cfeom//congenital fibrosis of the extraocular muscles//congenital fibrosis syndrome//congenital ophthalmoplegia//feom//fibrosis of extraocular muscles, congenital//fibrosis of extraocular muscles, congenital, type 1	TUBB2B;TUBA1A;TUBB3;COL25A1;KIF21A;PHOX2A	TUBB2B;TUBA1A;TUBB3;COL25A1;KIF21A;PHOX2A	https://raresource.nih.gov/literature/disease/0012590	0012590		45358	C1302995	C580012	tubulin beta 2B class IIb; tubulin alpha 1a; tubulin beta 3 class III; collagen type XXV alpha 1 chain; kinesin family member 21A; paired like homeobox 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital fibrosis of extraocular muscles"	208
Myopathy, myofibrillar, 9, with early respiratory failure	admerf//distal myopathy with early respiratory muscle involvement//edstrom myopathy//edström myopathy//hereditary inclusion body myopathy with early respiratory failure//hereditary myopathy with early respiratory failure//hereditary proximal myopathy with early respiratory failure//hibm-erf//hmerf//hmerf - hereditary myopathy with early respiratory failure//hmerf-erf//mfm-titinopathy//mfm9//mprm - myopathy, proximal, with early respiratory muscle involvement//myofibrillar myopathy with early respiratory failure//myofibrillar myopathy-titinopathy//myopathy, distal, with early respiratory failure, autosomal dominant//myopathy, proximal, with early respiratory muscle involvement	TTN	TTN	https://raresource.nih.gov/literature/disease/0012591	0012591	603689	178464	C1863599	C564377;C566343	titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, myofibrillar, 9, with early respiratory failure"	21
Oculopharyngodistal myopathy	faciooculolaryngopharyngeal myopathy with distal and respiratory involvement//oculopharyngeal distal myopathy//opdm//opdm - oculopharyngodistal myopathy	RILPL1;GIPC1;NOTCH2NLC;NUTM2B-AS1;LRP12;ABCD3	RILPL1;GIPC1;NOTCH2NLC;NUTM2B-AS1;LRP12;ABCD3	https://raresource.nih.gov/literature/disease/0012592	0012592		98897	C1834014	C563508	Rab interacting lysosomal protein like 1; GIPC PDZ domain containing family member 1; notch 2 N-terminal like C; NUTM2B antisense RNA 1; LDL receptor related protein 12; ATP binding cassette subfamily D member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngodistal myopathy"	76
Familial partial lipodystrophy, Kobberling type	familial partial lipodystrophy 1//familial partial lipodystrophy type 1//familial partial lipodystrophy, köbberling type//fpld1	NOTCH3	NOTCH3	https://raresource.nih.gov/literature/disease/0012598	0012598	608600	79084	C1720859		notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial partial lipodystrophy, Kobberling type"	8
AKT2-related familial partial lipodystrophy	akt serine/threonine kinase 2-related familial partial lipodystrophy//akt2-related fpld	AKT2	AKT2	https://raresource.nih.gov/literature/disease/0012599	0012599		79085	C5680134		AKT serine/threonine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AKT2-related familial partial lipodystrophy"	None
PPARG-related familial partial lipodystrophy	familial partial lipodystrophy type 3//fpld3//fpld3 - familial partial lipodystrophy type 3//lipodystrophy, familial partial, associated with pparg mutations//peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy//pparg-related fpld	PPARG	PPARG	https://raresource.nih.gov/literature/disease/0012600	0012600	604367	79083	C1720861		peroxisome proliferator activated receptor gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PPARG-related familial partial lipodystrophy"	32
PLIN1-related familial partial lipodystrophy	fpld4//fpld4 - familial partial lipodystrophy type 4//lipodystrophy, familial partial, associated with plin1 mutations//perilipin 1 related familial partial lipodystrophy//plin1-related fpld	PLIN1	PLIN1	https://raresource.nih.gov/literature/disease/0012601	0012601	613877	280356	C5191005		perilipin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PLIN1-related familial partial lipodystrophy"	2
Ehlers-Danlos syndrome, spondylocheirodysplastic type	eds, spondylocheirodysplastic type//ehlers-danlos syndrome, spondylodysplastic type, 3//scd-eds//slc39a13-related speds//slc39a13-related spondylodysplastic eds//slc39a13-related spondylodysplastic ehlers-danlos syndrome//speds-slc39a13//spondylocheirodysplastic ehlers-danlos syndrome	SLC39A13	SLC39A13	https://raresource.nih.gov/literature/disease/0012610	0012610	612350	157965	C2676510	C567340	solute carrier family 39 member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, spondylocheirodysplastic type"	13
Ehlers-Danlos syndrome, cardiac valvular type	cardiac valvular form of autosomal recessive ehlers-danlos syndrome//cardiac valvular form of ehlers-danlos syndrome//cardiac-valvular eds//cardiac-valvular ehlers-danlos syndrome//col1a2-related ehlers-danlos syndrome, cardiac valvular type//cveds//eds, cardiac valvular type//edscv//ehlers-danlos syndrome, autosomal recessive, cardiac valvular form	COL1A2	COL1A2	https://raresource.nih.gov/literature/disease/0012613	0012613	225320	230851	C4303789	C536200	collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, cardiac valvular type"	3
Methylmalonic acidemia with homocystinuria, type cblJ	cblj defects//cobalamin j defect//combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj//mahcj//methylmalonic aciduria and homocystinuria, cblj type//methylmalonic aciduria with homocystinuria, type cblj	ABCD4	ABCD4	https://raresource.nih.gov/literature/disease/0012621	0012621	614857	369955	C3553915		ATP binding cassette subfamily D member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic acidemia with homocystinuria, type cblJ"	3
Stapes ankylosis with broad thumbs and toes	ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly//stapes ankylosis syndrome without symphalangism//stapes ankylosis with broad thumb and toe syndrome//teunissen cremers syndrome//teunissen-cremers syndrome	NOG	NOG	https://raresource.nih.gov/literature/disease/0012631	0012631	184460	140917	C1866656		noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stapes ankylosis with broad thumbs and toes"	5
Laurence-Moon syndrome	lms//lnms	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0012635	0012635	245800	2377	C0023138	D007849	patatin like domain 6, lysophospholipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laurence-Moon syndrome"	1679
Pyogenic bacterial infections due to MyD88 deficiency	imd68//immunodeficiency 68//myd88 deficiency//myd88d//pyogenic bacterial infections, recurrent, due to myd88 deficiency//recurrent pyogenic bacterial infections due to myd88 deficiency	MYD88	MYD88	https://raresource.nih.gov/literature/disease/0012638	0012638	612260		C2677092	C567379	MYD88 innate immune signal transduction adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyogenic bacterial infections due to MyD88 deficiency"	136
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	alx1-related frontonasal dysplasia//frontonasal dysplasia type 3	ALX1	ALX1	https://raresource.nih.gov/literature/disease/0012640	0012640	613456	306542	C3150706		ALX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	None
Frontonasal dysplasia with alopecia and genital anomaly	alx4-related fndag//craniofrontonasal dysplasia with alopecia and hypogonadism//frontonasal dysplasia type 2//frontonasal dysplasia with alopecia and genital abnomality//frontonasal dysplasia-alopecia-genital anomalies syndrome	ALX4	ALX4	https://raresource.nih.gov/literature/disease/0012641	0012641	613451	228390	C3150703		ALX homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontonasal dysplasia with alopecia and genital anomaly"	3
Frontorhiny	alx homeobox 3-related frontonasal dysplasia//alx3-related frontonasal dysplasia//fnd1//frontonasal dysplasia 1//frontonasal dysplasia type 1//frontonasal malformation//isolated median cleft face syndrome	ALX3	ALX3	https://raresource.nih.gov/literature/disease/0012642	0012642	136760	391474	C5574965		ALX homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontorhiny"	26
Lethal congenital contracture syndrome 3	israeli bedouin type b multiple contracture syndrome//lccs3//lethal congenital contractural syndrome 3//lethal congenital contracture syndrome caused by mutation in pip5k1c//lethal congenital contracture syndrome type 3//multiple contracture syndrome, israeli bedouin type b//pip5k1c lethal congenital contracture syndrome	PIP5K1C	PIP5K1C	https://raresource.nih.gov/literature/disease/0012644	0012644	611369	137783	C1969655	C566961	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 3"	3
Lethal congenital contracture syndrome 4	lccs4//lethal congenital contracture syndrome caused by mutation in mybpc1//lethal congenital contracture syndrome type 4//mybpc1 lethal congenital contracture syndrome	MYBPC1	MYBPC1	https://raresource.nih.gov/literature/disease/0012645	0012645	614915		C3554046		myosin binding protein C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 4"	None
Isolated congenital megalocornea	congenital anterior megalophthalmia//megalocornea 1, x-linked, x-linked recessive//mgc1	CHRDL1	CHRDL1	https://raresource.nih.gov/literature/disease/0012648	0012648	309300	91489	C4518341		chordin like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital megalocornea"	6
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	lbsl//lbsl - leukoencephalopathy with brainstem and spinal cord involvement with lactate elevation//leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome//leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation//leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome//leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome//leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation//leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, mild//mitochondrial aspartyl-trna synthetase deficiency	DARS2	DARS2	https://raresource.nih.gov/literature/disease/0012652	0012652	611105	137898	C1970180	C567009	aspartyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	51
DOCK2 deficiency	dedicator of cytokinesis 2 deficiency//immunodeficiency 40//immunodeficiency type 40	DOCK2	DOCK2	https://raresource.nih.gov/literature/disease/0012653	0012653	616433	447737	C4225328		dedicator of cytokinesis 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DOCK2 deficiency"	28
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency//congenital adrenal hyperplasia due to cytochrome por deficiency//disordered steroidogenesis due to por deficiency//por deficiency//pord	POR	POR	https://raresource.nih.gov/literature/disease/0012664	0012664	613571	95699	C1860042		cytochrome p450 oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"	76
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	21-hydroxylase-deficient congenital adrenal hyperplasia//21-ohd//classic 21-ohd cah//congenital adrenal hyperplasia due to 21-hydroxylase deficiency//cyp21 deficiency	CYP21A2	CYP21A2	https://raresource.nih.gov/literature/disease/0012665	0012665	201910	90794	C2936858	C535979	cytochrome P450 family 21 subfamily A member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	320
Syndromic X-linked intellectual disability Najm type	intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, x-linked dominant//intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia//intellectual disability and microcephaly with pontine and cerebellar hypoplasia//mental retardation and microcephaly with pontine and cerebellar hypoplasia//mental retardation, x-linked, syndromic, najm type//micpch//micpch syndrome//x-linked intellectual disability, najm type//x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome	CASK	CASK	https://raresource.nih.gov/literature/disease/0012669	0012669	300749	163937	C2677903	C567466	calcium/calmodulin dependent serine protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Najm type"	34
Lipoic acid synthetase deficiency	hyperglycinemia, lactic acidosis, and seizures	LIAS	LIAS	https://raresource.nih.gov/literature/disease/0012678	0012678	614462	401859	C3280887		lipoic acid synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipoic acid synthetase deficiency"	2
Lipoyl transferase 1 deficiency		LIPT1	LIPT1	https://raresource.nih.gov/literature/disease/0012680	0012680	616299	401862	C4225379		lipoyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipoyl transferase 1 deficiency"	None
Spasticity-ataxia-gait anomalies syndrome	childhood-onset spasticity with hyperglycinemia//childhood-onset spasticity with variant non-ketotic hyperglycinemia//spahgc//spasticity, childhood-onset, with hyperglycinemia	GLRX5	GLRX5	https://raresource.nih.gov/literature/disease/0012681	0012681	616859	401866	C4225178		glutaredoxin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spasticity-ataxia-gait anomalies syndrome"	None
Horizontal gaze palsy with progressive scoliosis	familial infantile scoliosis associated with bilateral paralysis of conjugate gaze//gaze palsy, familial horizontal, with progressive scoliosis//hgpps//hgpps - horizontal gaze palsy with progressive scoliosis//progressive external ophthalmoplegia and scoliosis	DCC;ROBO3	DCC;ROBO3	https://raresource.nih.gov/literature/disease/0012682	0012682		2744	C1846496	C564593	DCC netrin 1 receptor; roundabout guidance receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Horizontal gaze palsy with progressive scoliosis"	49
Cutaneous mastocytoma	cutaneous local mastocytoma//mast cell nevus//mastocytoma of skin//multiple mastocytoma//solitary cutaneous mastocytoma//solitary mastocytoma//solitary mastocytoma of skin	KIT	KIT	https://raresource.nih.gov/literature/disease/0012687	0012687		79455	C0343115	D054705	KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutaneous mastocytoma"	105
X-linked intellectual disability-hypotonia-movement disorder syndrome		DDX3X	DDX3X	https://raresource.nih.gov/literature/disease/0012715	0012715		457260	C5681121		DEAD-box helicase 3 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-hypotonia-movement disorder syndrome"	None
Autosomal recessive centronuclear myopathy	ar-cnm//centronuclear myopathy, autosomal recessive//centronuclear myopathy, recessive	RYR1;BIN1;SPEG;TTN	RYR1;BIN1;SPEG;TTN	https://raresource.nih.gov/literature/disease/0012718	0012718		169186	C3645536		ryanodine receptor 1; bridging integrator 1; striated muscle enriched protein kinase; titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive centronuclear myopathy"	11
Autosomal dominant centronuclear myopathy	ad-cnm//autosomal dominant centronuclear myopathy caused by mutation in myf6//centronuclear myopathy 1//centronuclear myopathy, autosomal dominant//centronuclear myopathy, autosomal, modifier of//cnm1//myopathy, centronuclear, 1//myopathy, centronuclear, 3//myopathy, centronuclear, autosomal dominant//myopathy, centronuclear, type 1//myopathy, centronuclear, type 3//myotubular myopathy, autosomal dominant	DNM2	DNM2	https://raresource.nih.gov/literature/disease/0012719	0012719	160150	169189	C4551952		dynamin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant centronuclear myopathy"	42
Dyskinesia with orofacial involvement, autosomal dominant	dskod//dyskinesia, familial, with facial myokymia//familial dyskinesia and facial myokymia//fdfm	ADCY5	ADCY5	https://raresource.nih.gov/literature/disease/0012722	0012722	606703	324588	C5551343	C564676	adenylate cyclase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskinesia with orofacial involvement, autosomal dominant"	4
Periventricular nodular heterotopia	periventricular heterotopia//pvnh//pvnh - periventricular nodular heterotopia	ARF1;MAP1B;ARFGEF2;TMTC3;ERMARD;FLNA;NEDD4L	ARF1;MAP1B;ARFGEF2;TMTC3;ERMARD;FLNA;NEDD4L	https://raresource.nih.gov/literature/disease/0012724	0012724		98892	C1868720	D054091	ARF GTPase 1; microtubule associated protein 1B; ARF guanine nucleotide exchange factor 2; transmembrane O-mannosyltransferase targeting cadherins 3; ER membrane associated RNA degradation; filamin A; NEDD4 like E3 ubiquitin protein ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia"	487
X-linked hereditary sensory and autonomic neuropathy with hearing loss	x-linked auditory neuropathy with peripheral sensory neuropathy type 1//x-linked hereditary sensory and autonomic neuropathy with deafness//x-linked hsan (hereditary sensory and autonomic neuropathy) with deafness//x-linked hsan with deafness//x-linked hsan with hearing loss	AIFM1	AIFM1	https://raresource.nih.gov/literature/disease/0012731	0012731	300614	139583	C4304400	C564472	apoptosis inducing factor mitochondria associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked hereditary sensory and autonomic neuropathy with hearing loss"	None
Hereditary sensory and autonomic neuropathy type 7	autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a//cip with hyperhidrosis and gastrointestinal dysfunction//congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction//hereditary sensory and autonomic neuropathy type vii//hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction//hsan vii//hsan with hyperhidrosis and gastrointestinal dysfunction//hsan7//hsan7- hereditary sensory and autonomic neuropathy type 7//neuropathy, hereditary sensory and autonomic, type vii//scn11a autosomal dominant hereditary sensory and autonomic neuropathy	SCN11A	SCN11A	https://raresource.nih.gov/literature/disease/0012732	0012732	615548	391397	C3809882		sodium voltage-gated channel alpha subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 7"	2
Acute myeloid leukemia	acute granulocytic leukaemia//acute granulocytic leukemia//acute myeloblastic leukaemia//acute myeloblastic leukemia//acute myelocytic leukaemia//acute myelocytic leukemia//acute myelogenous leukaemia//acute myelogenous leukemia//acute myelogenous leukemias//acute myeloid leukaemia//acute myeloid leukaemia (aml)//acute myeloid leukemia (aml)//acute myeloid leukemia, adult//acute myeloid leukemia, disease//acute myeloid leukemia, somatic//acute non-lymphocytic leukemia//acute nonlymphocytic leukaemia//acute nonlymphocytic leukemia//aml//aml - acute myeloblastic leukemia//aml - acute myeloid leukaemia//aml - acute myeloid leukemia//aml adult//anll//familial acute myelocytic leukemia//hematopoeitic - acute myleogenous leukaemia (aml)//hematopoeitic - acute myleogenous leukemia (aml)//leukemia, acute myelogenous, somatic//leukemia, acute myeloid, autosomal dominant, somatic mutation//leukemia, acute myeloid, reduced survival in, somatic//leukemia, acute myeloid, somatic//leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation//leukemia, myelocytic, acute//myeloid leukemia, acute//myeloid leukemia, acute, m4/m4eo subtype, somatic	TERT;SH3GL1;NPM1;FLT3;DNMT3A;MLLT10;RUNX1;KIT;KRAS;GATA2;CEBPA;NUP214;JAK2;LPP;PICALM;CHIC2;ETV6	TERT;SH3GL1;NPM1;FLT3;DNMT3A;MLLT10;RUNX1;KIT;KRAS;GATA2;CEBPA;NUP214;JAK2;LPP;PICALM;CHIC2;ETV6	https://raresource.nih.gov/literature/disease/0012757	0012757	601626	519	C0023467	D015470	telomerase reverse transcriptase; SH3 domain containing GRB2 like 1, endophilin A2; nucleophosmin 1; fms related receptor tyrosine kinase 3; DNA methyltransferase 3 alpha; MLLT10 histone lysine methyltransferase DOT1L cofactor; RUNX family transcription factor 1; KIT proto-oncogene, receptor tyrosine kinase; KRAS proto-oncogene, GTPase; GATA binding protein 2; CCAAT enhancer binding protein alpha; nucleoporin 214; Janus kinase 2; LIM domain containing preferred translocation partner in lipoma; phosphatidylinositol binding clathrin assembly protein; cysteine rich hydrophobic domain 2; ETS variant transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia"	69663
Acute myeloid leukemia with multilineage dysplasia	acute myeloid leukaemia with myelodysplasia-related features//aml with multilineage dysplasia//aml with myelodysplasia-related features//de novo acute myeloid leukaemia with multilineage dysplasia//de novo acute myeloid leukemia with multilineage dysplasia	ASXL1;IDH2;TET2;DNMT3A;IDH1	ASXL1;IDH2;TET2;DNMT3A;IDH1	https://raresource.nih.gov/literature/disease/0012761	0012761		86845	C1292773		ASXL transcriptional regulator 1; isocitrate dehydrogenase (NADP(+)) 2; tet methylcytosine dioxygenase 2; DNA methyltransferase 3 alpha; isocitrate dehydrogenase (NADP(+)) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia with multilineage dysplasia"	None
Transient myeloproliferative syndrome	leukemia, transient//leukemia, transient, of down syndrome//mst//tam//tmd//transient abnormal myelopoiesis//transient abnormal myelopoiesis associated with down syndrome//transient leukaemia//transient leukaemia of down syndrome//transient leukemia//transient leukemia of down syndrome//transient leurkemia of down syndrome//transient myeloproliferative disease//transient myeloproliferative disorder//transient myeloproliferative syndrome (disease)	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0012765	0012765	159595	420611	C1834582	C563551	GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transient myeloproliferative syndrome"	6772
Multiple congenital anomalies-hypotonia-seizures syndrome 2	dee20//developmental and epileptic encephalopathy 20//epileptic encephalopathy, early infantile, 20//glycosylphosphatidylinositol biosynthesis defect 4//gpibd4//mcahs type 2//mcahs2//multiple congenital anomalies-hypotonia-seizures syndrome 2, x-linked recessive//multiple congenital anomalies-hypotonia-seizures syndrome type 2//multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in piga//piga multiple congenital anomalies/dysmorphic syndrome-intellectual disability	PIGA	PIGA	https://raresource.nih.gov/literature/disease/0012777	0012777	300868	300496	C3275508		phosphatidylinositol glycan anchor biosynthesis class A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple congenital anomalies-hypotonia-seizures syndrome 2"	9
Familial retinal arterial macroaneurysm	fram//fram - familial retinal arterial macroaneurysm//ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis//retinal arterial macroaneurysm and supravalvular pulmonic stenosis//retinal arterial macroaneurysm with supravalvular pulmonic stenosis	IGFBP7	IGFBP7	https://raresource.nih.gov/literature/disease/0012779	0012779	614224	284247	C3280205		insulin like growth factor binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial retinal arterial macroaneurysm"	6
Multiple congenital anomalies-hypotonia-seizures syndrome 1	congenital disorder of glycosylation due to pign deficiency//glycosylphosphatidylinositol biosynthesis defect 3//inherited gpi anchor-deficiency//mcahs1//multiple congenital anomalies-hypotonia-seizures syndrome type 1//multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in pign//pign multiple congenital anomalies/dysmorphic syndrome-intellectual disability//pign-cdg	PIGN	PIGN	https://raresource.nih.gov/literature/disease/0012781	0012781	614080	280633	C3279775		phosphatidylinositol glycan anchor biosynthesis class N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple congenital anomalies-hypotonia-seizures syndrome 1"	13
Recessive dystrophic epidermolysis bullosa-generalized other	autosomal recessive dystrophic epidermolysis bullosa generalisata mitis//autosomal recessive dystrophic epidermolysis bullosa, generalised other//autosomal recessive dystrophic epidermolysis bullosa, generalized other//autosomal recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type//autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form//generalised mitis rdeb//generalized mitis rdeb//generalized rdeb, intermediate form//rdeb generalisata mitis//rdeb, generalised intermediate//rdeb, generalized intermediate//rdeb, non-hallopeau-siemens type//rdeb-generalized other//rdeb-o//rdeb-o - recessive dystrophic epidermolysis bullosa-generalized other//recessive dystrophic epidermolysis bullosa non-hallopeau siemens type//recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0012794	0012794		89842	C4511044		collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recessive dystrophic epidermolysis bullosa-generalized other"	2
Dentinogenesis imperfecta type 2	capdepont teeth//dentinogenesis imperfecta - shield's type ii//dentinogenesis imperfecta 1//dentinogenesis imperfecta type 1//dentinogenesis imperfecta, shields type 2//dentinogenesis imperfecta, shields type ii//dgi-2//dgi1//di-2//hereditary opalescent dentine//opalescent dentin	DSPP	DSPP	https://raresource.nih.gov/literature/disease/0012796	0012796	125490	166260	C2973527		dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentinogenesis imperfecta type 2"	127
Early-onset autosomal dominant Alzheimer disease	early-onset familial alzheimer disease//early-onset familial autosomal dominant alzheimer disease//eofad	PSEN2;PSEN1;SORL1;APP	PSEN2;PSEN1;SORL1;APP	https://raresource.nih.gov/literature/disease/0012798	0012798		1020	CN043596		presenilin 2; presenilin 1; sortilin related receptor 1; amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset autosomal dominant Alzheimer disease"	61
Proteus-like syndrome	cohen-hayden syndrome	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0012801	0012801		2969	C1866398		phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteus-like syndrome"	18
Autosomal dominant spondylocostal dysostosis	autosomal dominant spondylocostal dysplasia//spondylocostal dysostosis, autosomal dominant	TBX6	TBX6	https://raresource.nih.gov/literature/disease/0012806	0012806		1797	C4274761		T-box transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant spondylocostal dysostosis"	2
Spondylocostal dysostosis 6, autosomal recessive	autosomal recessive spondylocostal dysostosis caused by mutation in ripply2//ripply2 autosomal recessive spondylocostal dysostosis//scdo6	RIPPLY2	RIPPLY2	https://raresource.nih.gov/literature/disease/0012807	0012807	616566		C4225279		ripply transcriptional repressor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocostal dysostosis 6, autosomal recessive"	3
Multisystemic smooth muscle dysfunction syndrome	acta2-related smooth muscle dysfunction syndrome//mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy//smdys//smooth muscle dysfunction syndrome	ACTA2	ACTA2	https://raresource.nih.gov/literature/disease/0012811	0012811	613834	404463	C3151201		actin alpha 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multisystemic smooth muscle dysfunction syndrome"	38
8q24.3 microdeletion syndrome	chromosome 8q24.3 deletion syndrome//del(8)(q24.3)//deletion 8q24.3//monosomy 8q24.3//verheij syndrome	PUF60	PUF60	https://raresource.nih.gov/literature/disease/0012814	0012814	615583	508488	C3810023		poly(U) binding splicing factor 60	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=8q24.3 microdeletion syndrome"	22
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	autosomal dominant intellectual disability 18//autosomal dominant mental retardation 18//gand//gand syndrome//intellectual disability, autosomal dominant type 18//mental retardation, autosomal dominant type 18//mrd18	GATAD2B	GATAD2B	https://raresource.nih.gov/literature/disease/0012815	0012815	615074	363686	C3554448		GATA zinc finger domain containing 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	11
Palmoplantar pustulosis	acropustulosis//localised pustular psoriasis//localized pustular psoriasis//lpp//palmoplantar pustular psoriasis//palmoplantar pustules//ppp//ppp - palmoplantar pustulosis//pustular acrodermatitis//pustular psoriasis of palms and soles//pustular psoriasis of the palms and/or soles//pustulosis of palm and sole//pustulosis of palms and soles//pustulosis palmaris et plantaris//recalcitrant pustular eruption of palms and soles	AP1S3;IL36RN	AP1S3;IL36RN	https://raresource.nih.gov/literature/disease/0012820	0012820		163927	C0030246		adaptor related protein complex 1 subunit sigma 3; interleukin 36 receptor antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar pustulosis"	1969
Severe congenital nemaline myopathy		KLHL40;KLHL41;NEB;ACTA1;LMOD3	KLHL40;KLHL41;NEB;ACTA1;LMOD3	https://raresource.nih.gov/literature/disease/0012821	0012821		171430	C5680451		kelch like family member 40; kelch like family member 41; nebulin; actin alpha 1, skeletal muscle; leiomodin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe congenital nemaline myopathy"	1
Typical nemaline myopathy		TPM2;ACTA1;NEB;KLHL41;LMOD3;CFL2	TPM2;ACTA1;NEB;KLHL41;LMOD3;CFL2	https://raresource.nih.gov/literature/disease/0012822	0012822		171436	C5680453		tropomyosin 2; actin alpha 1, skeletal muscle; nebulin; kelch like family member 41; leiomodin 3; cofilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Typical nemaline myopathy"	1
Intermediate nemaline myopathy		ACTA1;TPM3;NEB;KLHL41	ACTA1;TPM3;NEB;KLHL41	https://raresource.nih.gov/literature/disease/0012823	0012823		171433	C5680452		actin alpha 1, skeletal muscle; tropomyosin 3; nebulin; kelch like family member 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate nemaline myopathy"	None
Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome	SOX18	SOX18	https://raresource.nih.gov/literature/disease/0012827	0012827		69735	CN294624		SRY-box transcription factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"	None
Dilated cardiomyopathy 1S	cardiomyopathy, dilated, type 1s//cmd1s//dilated cardiomyopathy type 1s//familial isolated dilated cardiomyopathy caused by mutation in myh7//myh7 familial isolated dilated cardiomyopathy//myh7-related dilated cardiomyopathy	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0012832	0012832	613426		C1834481	C563538	myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1S"	1
High myopia-sensorineural deafness syndrome	deafness and myopia//deafness and myopia syndrome//high myopia-sensorineural hearing loss syndrome	SLITRK6	SLITRK6	https://raresource.nih.gov/literature/disease/0012844	0012844	221200	363396	C3806275		SLIT and NTRK like family member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=High myopia-sensorineural deafness syndrome"	1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	chops syndrome//cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia	AFF4	AFF4	https://raresource.nih.gov/literature/disease/0012845	0012845	616368	444077	C4085597		ALF transcription elongation factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome"	7
Intellectual disability, autosomal dominant 6	autosomal dominant intellectual disability 6//autosomal dominant mental retardation 6//autosomal dominant non-syndromic intellectual disability 6//autosomal dominant non-syndromic intellectual disability caused by mutation in grin2b//grin2b autosomal dominant non-syndromic intellectual disability//grin2b-related developmental delay, intellectual disability and autism spectrum disorder//intellectual developmental disorder, autosomal dominant 6, with or without seizures//intellectual disability, autosomal dominant 6, with or without seizures//intellectual disability, autosomal dominant type 6//mental retardation, autosomal dominant type 6//mrd6	GRIN2B	GRIN2B	https://raresource.nih.gov/literature/disease/0012851	0012851	613970	589547	C3151411		glutamate ionotropic receptor NMDA type subunit 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 6"	1
Paroxysmal extreme pain disorder	familial rectal pain//pain, submandibular, ocular, and rectal, with flushing//pexpd//rectal pain, familial//submandibular, ocular and rectal pain with flushing	SCN9A	SCN9A	https://raresource.nih.gov/literature/disease/0012854	0012854	167400	46348	C1833661	C563475	sodium voltage-gated channel alpha subunit 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal extreme pain disorder"	83
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	aoa2//aoa2 - ataxia oculomotor apraxia type 2//ataxia with oculomotor apraxia//ataxia with oculomotor apraxia 2//ataxia with oculomotor apraxia type 2//ataxia-ocular apraxia 2//ataxia-ocular apraxia-2//ataxia-oculomotor apraxia 2//ataxia-oculomotor apraxia type 2//autosomal recessive cerebellar ataxia with oculomotor apraxia type 2//scan 2//scan2//scar1//scar1 - spinocerebellar ataxia autosomal recessive 1//spinocerebellar ataxia with axonal neuropathy type 2//spinocerebellar ataxia, autosomal recessive 1//spinocerebellar ataxia, autosomal recessive type 1	SETX	SETX	https://raresource.nih.gov/literature/disease/0012860	0012860	606002	64753	C1853761	C537308	senataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	141
Brown-Vialetto-van Laere syndrome 2	brown-vialetto-van laere syndrome caused by mutation in slc52a2//brown-vialetto-van laere syndrome type 2//bvvls2//rfvt3-related riboflavin transporter deficiency//riboflavin transporter deficiency 3//riboflavin transporter deficiency type 2//rtd3//slc52a2 brown-vialetto-van laere syndrome//spinocerebellar ataxia with blindness and deafness 2	SLC52A2	SLC52A2	https://raresource.nih.gov/literature/disease/0012861	0012861		572550	C3553538		solute carrier family 52 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brown-Vialetto-van Laere syndrome 2"	17
Acral peeling skin syndrome	acral deciduous skin//acral pss//localised deciduous skin//localised pss//localized deciduous skin//localized pss//peeling skin syndrome 2//peeling skin syndrome type 2//peeling skin syndrome, acral type	TGM5	TGM5	https://raresource.nih.gov/literature/disease/0012863	0012863	609796	263534	C1853354	C536316	transglutaminase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acral peeling skin syndrome"	34
Hyperlipidemia due to hepatic triglyceride lipase deficiency	hepatic lipase deficiency//hyperlipidemia due to hepatic lipase deficiency//hyperlipidemia due to hepatic triacylglycerol lipase deficiency//hyperlipidemia due to hl deficiency//hyperlipidemia due to htgl deficiency//lipc deficiency	LIPC	LIPC	https://raresource.nih.gov/literature/disease/0012864	0012864	614025	140905	C3151466		lipase C, hepatic type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperlipidemia due to hepatic triglyceride lipase deficiency"	35
Pituitary dependent hypercortisolism	acth producing pituitary adenoma//corticotroph pituitary adenoma//cushing basophilism//cushing disease//cushing disease due to pituitary adenoma//cushing disease, pituitary//cushing's disease//pita4//pituitary acth hypersecretion//pituitary adenoma 4, acth-secreting//pituitary adenoma 4, acth-secreting, somatic//pituitary adenoma, acth-secreting//pituitary adenoma, acth-secreting, somatic//pituitary corticotroph micro-adenoma//pituitary cushing syndrome//pituitary dependent cushing disease//pituitary dependent cushing syndrome//pituitary hyperadrenal corticism//pituitary-dependent cushing syndrome	USP8	USP8	https://raresource.nih.gov/literature/disease/0012867	0012867	219090	96253	C0221406	D047748;D049913	ubiquitin specific peptidase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary dependent hypercortisolism"	5313
Osteogenesis imperfecta type 10	oi, type x//oi10//osteogenesis imperfecta caused by mutation in serpinh1//osteogenesis imperfecta type x//serpinh1 osteogenesis imperfecta//serpinh1-related osteogenesis imperfecta	SERPINH1	SERPINH1	https://raresource.nih.gov/literature/disease/0012874	0012874	613848		C3151211		serpin family H member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 10"	4
Osteogenesis imperfecta type 11	fkbp10 osteogenesis imperfecta//fkbp10-related osteogenesis imperfecta//oi, type xi//oi11//osteogenesis imperfecta caused by mutation in fkbp10//osteogenesis imperfecta type xi//osteogenesis imperfecta, type xi	FKBP10	FKBP10	https://raresource.nih.gov/literature/disease/0012875	0012875	610968		C3151218		FKBP prolyl isomerase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 11"	11
Childhood apraxia of speech	cas//developmental verbal dyspraxia//dvd - developmental verbal apraxia//isolated cas//isolated childhood apraxia of speech//isolated developmental verbal dyspraxia//pure cas//pure childhood apraxia of speech//spch1//speech and language disorder with orofacial dyspraxia//speech language disorder//speech-language disorder type 1	FOXP2	FOXP2	https://raresource.nih.gov/literature/disease/0012889	0012889	602081	209908	C0750927		forkhead box P2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood apraxia of speech"	2428
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	combined oxidative phosphorylation defect type 16//combined oxidative phosphorylation deficiency 16//combined oxidative phosphorylation deficiency caused by mutation in mrpl44//combined oxidative phosphorylation deficiency type 16//coxpd16//mrpl44 combined oxidative phosphorylation deficiency	MRPL44	MRPL44	https://raresource.nih.gov/literature/disease/0012892	0012892	615395	352563	C3809339		mitochondrial ribosomal protein L44	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	None
Developmental and epileptic encephalopathy, 4	dee4//early infantile epileptic encephalopathy 4//early infantile epileptic encephalopathy caused by mutation in stxbp1//eiee4//epileptic encephalopathy, early infantile, 4//epileptic encephalopathy, early infantile, type 4//stxbp1 (syntaxin binding protein 1) epileptic encephalopathy//stxbp1 early infantile epileptic encephalopathy//stxbp1 encephalopathy with epilepsy//stxbp1-related early-onset encephalopathy//stxbp1-related encephalopathy//stxbp1-related epileptic encephalopathy//syntaxin binding protein 1 encephalopathy with epilepsy	STXBP1	STXBP1	https://raresource.nih.gov/literature/disease/0012900	0012900	612164	599373	C2677326	C567404	syntaxin binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 4"	9
Developmental and epileptic encephalopathy, 25	dee25//developmental and epileptic encephalopathy 25, with amelogenesis imperfecta//early infantile epileptic encephalopathy 25//early infantile epileptic encephalopathy caused by mutation in slc13a5//eiee25//epileptic encephalopathy, early infantile, 25//epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta//epileptic encephalopathy, early infantile, type 25//slc13a5 citrate transporter disorder//slc13a5 early infantile epileptic encephalopathy	SLC13A5	SLC13A5	https://raresource.nih.gov/literature/disease/0012901	0012901	615905		C4014621		solute carrier family 13 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 25"	19
Bosch-Boonstra-Schaaf optic atrophy syndrome	bbsoas//bbsoas - bosch boonstra schaaf optic atrophy syndrome//optic atrophy, intellectual disability syndrome//optic atrophy-intellectual disability syndrome	NR2F1	NR2F1	https://raresource.nih.gov/literature/disease/0012903	0012903	615722	401777	C3810363		nuclear receptor subfamily 2 group F member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bosch-Boonstra-Schaaf optic atrophy syndrome"	42
Polyhydramnios, megalencephaly, and symptomatic epilepsy	pmse//pmse (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome//pmse syndrome//polyhydramnios, megalencephaly, symptomatic epilepsy syndrome//polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	STRADA	STRADA	https://raresource.nih.gov/literature/disease/0012913	0012913	611087	500533	C1970203	C567020	STE20 related adaptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyhydramnios, megalencephaly, and symptomatic epilepsy"	11
Immunodeficiency 33	ikbkg invasive pneumococcal disease, recurrent isolated//ikbkg x-linked mendelian susceptibility to mycobacterial diseases//imd33//immunodeficiency 33, mycobacteriosis, x-linked//immunodeficiency 33, x-linked recessive//immunodeficiency type 33//immunodeficiency without anhidrotic ectodermal dysplasia//immunodeficiency, isolated//immunodeficiency, pure//invasive pneumococcal disease, recurrent isolated caused by mutation in ikbkg//invasive pneumococcal disease, recurrent isolated, 2//invasive pneumococcal disease, recurrent isolated, type 2//ipd2//x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in ikbkg//x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency//x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency//x-linked msmd due to ikbkg deficiency//x-linked msmd due to nemo deficiency	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0012915	0012915	300636		C1970879	C536289	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 33"	None
Rh deficiency syndrome	anemia, hemolytic, rh-null, regulator type//rh-null syndrome	RHAG	RHAG	https://raresource.nih.gov/literature/disease/0012916	0012916	268150	71275	C0272052	C562717	Rh associated glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rh deficiency syndrome"	16
Malignant migrating partial seizures of infancy	malignant migrating focal seizures of infancy//malignant migrating partial epilepsy of infancy//malignant migrating partial seizures in infancy//migrating partial epilepsy of infancy//migrating partial seizures in infancy//migrating partial seizures of infancy//mmpei//mmpsi//mmpsi - malignant migrating partial seizures of infancy//mpei//mpsi	TBC1D24;SCN2A;SLC12A5;KCNT1;SCN1A;KCNQ2;PIGA;SLC25A22;PLCB1	TBC1D24;SCN2A;SLC12A5;KCNT1;SCN1A;KCNQ2;PIGA;SLC25A22;PLCB1	https://raresource.nih.gov/literature/disease/0012919	0012919		293181	C3494976		TBC1 domain family member 24; sodium voltage-gated channel alpha subunit 2; solute carrier family 12 member 5; potassium sodium-activated channel subfamily T member 1; sodium voltage-gated channel alpha subunit 1; potassium voltage-gated channel subfamily Q member 2; phosphatidylinositol glycan anchor biosynthesis class A; solute carrier family 25 member 22; phospholipase C beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malignant migrating partial seizures of infancy"	87
Late-onset junctional epidermolysis bullosa	eb progressive//epidermolysis bullosa progressiva//jeb-lo//late-onset jeb	COL17A1	COL17A1	https://raresource.nih.gov/literature/disease/0012921	0012921		79406	C4304724		collagen type XVII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-onset junctional epidermolysis bullosa"	3
Generalized junctional epidermolysis bullosa non-Herlitz type	gabeb//generalised atrophic benign epidermolysis bullosa//generalised junctional epidermolysis bullosa, non-herlitz type//generalized atrophic benign epidermolysis bullosa//generalized atrophic benign epidermolysis bullosa - gabeb//intermediate generalized jeb//intermediate generalized junctional epidermolysis bullosa//jeb, generalised intermediate//jeb, generalized intermediate//jeb-nh gen//junctional epidermolysis bullosa disentis type//junctional epidermolysis bullosa generalisata mitis//junctional epidermolysis bullosa generalized intermediate//junctional epidermolysis bullosa mitis//junctional epidermolysis bullosa, disentis type	ITGB4;LAMB3;LAMC2;LAMA3;COL17A1	ITGB4;LAMB3;LAMC2;LAMA3;COL17A1	https://raresource.nih.gov/literature/disease/0012922	0012922		79402	C0432326		integrin subunit beta 4; laminin subunit beta 3; laminin subunit gamma 2; laminin subunit alpha 3; collagen type XVII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized junctional epidermolysis bullosa non-Herlitz type"	44
Localized junctional epidermolysis bullosa, non-Herlitz type	jeb-nh loc//junctional epidermolysis bullosa, non-herlitz localized type//localized jeb//localized junctional epidermolysis bullosa//localized non-herlitz junctional epidermolysis bullosa	COL17A1;ITGB4	COL17A1;ITGB4	https://raresource.nih.gov/literature/disease/0012923	0012923		251393	C5700116		collagen type XVII alpha 1 chain; integrin subunit beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Localized junctional epidermolysis bullosa, non-Herlitz type"	1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder//adnp syndrome//adnp-related syndromic intellectual disability-autism spectrum disorder//autosomal dominant intellectual disability 28//autosomal dominant mental retardation 28//helsmoortel-van der aa syndrome//hvdas//mrd28	ADNP	ADNP	https://raresource.nih.gov/literature/disease/0012931	0012931	615873	404448	C4014538		activity dependent neuroprotector homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	75
Familial X-linked hypophosphatemic vitamin D refractory rickets	hereditary hypophosphatemic rickets, x-linked//hypophosphatemia, vitamin d-resistant rickets//hypophosphatemic rickets x-linked dominant//hypophosphatemic rickets, x-linked//hypophosphatemic rickets, x-linked dominant//hypophosphatemic rickets, x-linked dominant, x-linked dominant//hypophosphatemic vitamin d-resistant rickets//rickets, vitamin d-resistant//vitamin d-resistant rickets, x-linked//vitamin d-resistant rickets, x-linked//x-linked dominant hypophosphatemic rickets//x-linked hereditary hypophosphatemic rickets//x-linked hypophosphatemia//xlh//xlhrd	PHEX	PHEX	https://raresource.nih.gov/literature/disease/0012943	0012943	307800	89936	C0733682		phosphate regulating endopeptidase X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial X-linked hypophosphatemic vitamin D refractory rickets"	1059
Developmental and epileptic encephalopathy, 5	dee5//early infantile epileptic encephalopathy caused by mutation in sptan1//eiee5//epileptic encephalopathy, early infantile, 5//epileptic encephalopathy, early infantile, type 5//sptan1 early infantile epileptic encephalopathy	SPTAN1	SPTAN1	https://raresource.nih.gov/literature/disease/0012949	0012949	613477		C3150731		spectrin alpha, non-erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 5"	2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	3-methylglutaconic aciduria caused by mutation in serac1//3-methylglutaconic aciduria type 6//3-methylglutaconic aciduria type iv with sensorineural deafness, encephalopathy and leigh-like syndrome//3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome//3-methylglutaconic aciduria with hearing loss-encephalopathy-leigh-like syndrome//3-methylglutaconic aciduria, type vi//megdel//megdel syndrome//mgca6//serac1 3-methylglutaconic aciduria	SERAC1	SERAC1	https://raresource.nih.gov/literature/disease/0012963	0012963	614739	352328	C4040739		serine active site containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	40
3-methylglutaconic aciduria type 5	3 alpha methylglutaconic aciduria type v//3-methylglutaconic aciduria caused by mutation in dnajc19//3-methylglutaconic aciduria type v//cardiomyopathy, dilated, with ataxia//dcma//dcma syndrome//dilated cardiomyopathy with ataxia//dilated cardiomyopathy with ataxia syndrome//dnajc19 3-methylglutaconic aciduria//mga 5//mga, type v//mga5//mgca5	DNAJC19	DNAJC19	https://raresource.nih.gov/literature/disease/0012964	0012964	610198	66634	C1857776	C565706	DnaJ heat shock protein family (Hsp40) member C19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria type 5"	24
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12b//il12b autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency//il12b deficiency//immunodeficiency 29//immunodeficiency 29, mycobacteriosis//immunodeficiency type 29//mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency//msmd due to complete il12b deficiency//msmd due to complete interleukin 12b deficiency	IL12B	IL12B	https://raresource.nih.gov/literature/disease/0012976	0012976	614890	319558	C4013948		interleukin 12B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"	None
Proximal myopathy with extrapyramidal signs	myopathy with extrapyramidal signs	MICU1	MICU1	https://raresource.nih.gov/literature/disease/0012978	0012978	615673	401768	C3810285		mitochondrial calcium uptake 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal myopathy with extrapyramidal signs"	2
Congenital defect of folate absorption	congenital folate malabsorption//congenital malabsorption of folic acid//folate transport defect//folic acid transport defect//hereditary folate malabsorption	SLC46A1	SLC46A1	https://raresource.nih.gov/literature/disease/0012983	0012983	229050	90045	C0342705	C562799	solute carrier family 46 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital defect of folate absorption"	78
Acyl-CoA dehydrogenase 9 deficiency	acad9 deficiency//acyl-coa dehydrogenase family, member 9, deficiency of//mitochondrial complex i deficiency due to acad9 deficiency//mitochondrial complex i deficiency, nuclear type 20	ACAD9	ACAD9	https://raresource.nih.gov/literature/disease/0012986	0012986	611126	99901	C4747517	C567006	acyl-CoA dehydrogenase family member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acyl-CoA dehydrogenase 9 deficiency"	16
Hereditary sensory and autonomic neuropathy type 6	dst hereditary sensory and autonomic neuropathy//familial dysautonomia with contractures//hereditary sensory and autonomic neuropathy caused by mutation in dst//hereditary sensory and autonomic neuropathy type vi//hsan vi//hsan6//hsan6 - hereditary sensory and autonomic neuropathy type 6//neuropathy, hereditary sensory and autonomic, type vi	DST	DST	https://raresource.nih.gov/literature/disease/0012987	0012987	614653	314381	C3539003		dystonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 6"	21
Hemoglobin M disease	hereditary m hemoglobinopathy//hereditary methemoglobinemia due to globin chain mutation//hereditary methemoglobinuria//m hemoglobinopathy//methemoglobinemia, beta type	HBB	HBB	https://raresource.nih.gov/literature/disease/0013007	0013007	617971	330041	C3665425	C581942	hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin M disease"	15
Obesity due to congenital leptin deficiency	congenital leptin deficiency//leptin deficiency//leptin deficiency or dysfunction//obesity, morbid, due to leptin deficiency	LEP	LEP	https://raresource.nih.gov/literature/disease/0013015	0013015	614962	66628	C3554224		leptin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to congenital leptin deficiency"	634
IL10-related early-onset inflammatory bowel disease	autosomal recessive early-onset inflammatory bowel disease//il10 (interleukin 10) related early-onset inflammatory bowel disease//il10-related early-onset ibd//immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome//immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome//interleukin 10 related early-onset inflammatory bowel disease	IL10RB;IL10RA;IL10	IL10RB;IL10RA;IL10	https://raresource.nih.gov/literature/disease/0013016	0013016		238569	C4749850		interleukin 10 receptor subunit beta; interleukin 10 receptor subunit alpha; interleukin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IL10-related early-onset inflammatory bowel disease"	None
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	pxmd-echs1	ECHS1	ECHS1	https://raresource.nih.gov/literature/disease/0013019	0013019	616277	653880	C4225391		enoyl-CoA hydratase, short chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	6
Wooly hair nevus	nevus, woolly hair, somatic//woolly hair nevus	HRAS	HRAS	https://raresource.nih.gov/literature/disease/0013025	0013025		79414	C0343114		HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wooly hair nevus"	42
Deafness-lymphedema-leukemia syndrome	emberger syndrome//lymphedema, primary, with myelodysplasia	GATA2	GATA2	https://raresource.nih.gov/literature/disease/0013030	0013030	614038		C3279664		GATA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness-lymphedema-leukemia syndrome"	29
Complex cortical dysplasia with other brain malformations 1	cdcbm1//complex cortical dysplasia with other brain malformations caused by mutation in tubb3//complex cortical dysplasia with other brain malformations type 1//cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation//cortical dysplasia, complex, with other brain malformations type 1//tubb3 complex cortical dysplasia with other brain malformations	TUBB3	TUBB3	https://raresource.nih.gov/literature/disease/0013032	0013032	614039	300570	C3808397		tubulin beta 3 class III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complex cortical dysplasia with other brain malformations 1"	1
Thrombophilia due to protein C deficiency, autosomal recessive	proc deficiency, autosomal recessive//protein c deficiency, autosomal recessive//thrombophilia 3 due to protein c deficiency, autosomal recessive	PROC	PROC	https://raresource.nih.gov/literature/disease/0013041	0013041	612304		C2676759	C567353	protein C, inactivator of coagulation factors Va and VIIIa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia due to protein C deficiency, autosomal recessive"	None
Schuurs-Hoeijmakers syndrome	autosomal dominant intellectual disability 17//autosomal dominant mental retardation 17//intellectual disability, autosomal dominant type 17//intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome//intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome//mental retardation, autosomal dominant type 17//mrd17//pacs1-related syndrome//shms	PACS1	PACS1	https://raresource.nih.gov/literature/disease/0013043	0013043	615009	329224	C3554343		phosphofurin acidic cluster sorting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schuurs-Hoeijmakers syndrome"	37
Germ cell tumor of testis	germ cell neoplasm of testis//germ cell neoplasm of the testis//germ cell tumor of the testis//germ cell tumor, somatic//germ cell tumors, somatic//germ cell tumour of testis//germ cell tumour of the testis//male germ cell tumor, somatic//spermatocytic seminoma, somatic//testicular germ cell neoplasm//testicular germ cell neoplasms//testicular germ cell tumor//testicular tumor, somatic//testis germ cell tumor//testis germ cell tumour//tgct	STK11;FGFR3;KIT;BCL10	STK11;FGFR3;KIT;BCL10	https://raresource.nih.gov/literature/disease/0013047	0013047	273300	363504	C1336708	C563236	serine/threonine kinase 11; fibroblast growth factor receptor 3; KIT proto-oncogene, receptor tyrosine kinase; BCL10 immune signaling adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Germ cell tumor of testis"	1665
Congenital analbuminemia		ALB	ALB	https://raresource.nih.gov/literature/disease/0013056	0013056	616000	86816	C4305253		albumin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital analbuminemia"	38
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	autosomal dominant multiple pterygium syndrome//contractures, pterygia, and spondylocarpostarsal fusion syndrome 1a//contractures, pterygia, and variable skeletal fusions syndrome 1a//cpsfs1a//distal arthrogryposis type 8//multiple pterygium syndrome, autosomal dominant//multiple pterygium syndrome, dominant	MYH3	MYH3	https://raresource.nih.gov/literature/disease/0013058	0013058	178110	65743	C1867440	C566739	myosin heavy chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"	2
Distal arthrogryposis type 5D	da5d//da5d - distal arthrogryposis type 5d//distal arthrogryposis caused by mutation in ecel1//distal arthrogryposis type 5 without ophthalmoparesis//distal arthrogryposis type 5 without ophthalmoplegia//ecel1 distal arthrogryposis	ECEL1	ECEL1	https://raresource.nih.gov/literature/disease/0013059	0013059	615065	329457	C3554415		endothelin converting enzyme like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal arthrogryposis type 5D"	20
Developmental and epileptic encephalopathy, 7	dee7//early infantile epileptic encephalopathy 7//eiee7//epileptic encephalopathy, early infantile, 7//epileptic encephalopathy, early infantile, type 7//kcnq2-nee//kcnq2-related epileptic encephalopathy//kcnq2-related neonatal epileptic encephalopathy	KCNQ2	KCNQ2	https://raresource.nih.gov/literature/disease/0013060	0013060	613720	439218	C3150986		potassium voltage-gated channel subfamily Q member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 7"	6
Intestinal hypomagnesemia 1	familial primary hypomagnesemia caused by mutation in trpm6//homg1//hsh//hypomagnesemia caused by selective magnesium malabsorption//hypomagnesemia intestinal type 1//hypomagnesemia with secondary hypocalcemia//hypomagnesemia, intestinal, with secondary hypocalcemia//hypomagnesemic tetany//intestinal hypomagnesemia type 1//intestinal hypomagnesemia with secondary hypocalcemia//phsh//primary hypomagnesemia caused by mutation in trpm6//primary hypomagnesemia with secondary hypocalcemia//trpm6 familial primary hypomagnesemia//trpm6 primary hypomagnesemia	TRPM6	TRPM6	https://raresource.nih.gov/literature/disease/0013072	0013072	602014	30924	C1865974	C566593	transient receptor potential cation channel subfamily M member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intestinal hypomagnesemia 1"	73
Nevus comedonicus syndrome	acne nevus//acneiform nevus//comedo nevus//follicular nevus//nevus comedonicus//nevus comedonicus, somatic//pilosebaceous nevoid disorder	NEK9	NEK9	https://raresource.nih.gov/literature/disease/0013073	0013073	617025	64754	C0265987		NIMA related kinase 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nevus comedonicus syndrome"	146
Developmental and epileptic encephalopathy, 13	dee13//early infantile epileptic encephalopathy 13//early infantile epileptic encephalopathy caused by mutation in scn8a//early infantile epileptic encephalopathy-13//eiee13//epileptic encephalopathy, early infantile, 13//epileptic encephalopathy, early infantile, type 13//scn8a (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy//scn8a early infantile epileptic encephalopathy//scn8a encephalopathy//scn8a-related epilepsy//scn8a-related epilepsy with encephalopathy//sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy	SCN8A	SCN8A	https://raresource.nih.gov/literature/disease/0013085	0013085	614558		C3281191		sodium voltage-gated channel alpha subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 13"	54
Corticosteroid-binding globulin deficiency	cbg deficiency//transcortin deficiency	SERPINA6	SERPINA6	https://raresource.nih.gov/literature/disease/0013101	0013101	611489	199247	C1852529		serpin family A member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corticosteroid-binding globulin deficiency"	28
MIRAGE syndrome	mirage//mirage (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome//myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome//myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy//myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome//myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome//myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome	SAMD9	SAMD9	https://raresource.nih.gov/literature/disease/0013108	0013108	617053	494433	C4284088		sterile alpha motif domain containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MIRAGE syndrome"	56
Ataxia - oculomotor apraxia type 4	aoa4//ataxia-oculomotor apraxia 4//oculomotor apraxia or related oculomotor disease caused by mutation in pnkp//pnkp oculomotor apraxia or related oculomotor disease	PNKP	PNKP	https://raresource.nih.gov/literature/disease/0013111	0013111	616267	459033	C4225397		polynucleotide kinase 3'-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia - oculomotor apraxia type 4"	17
Ataxia with oculomotor apraxia type 3	ataxia-oculomotor apraxia 3//ataxia-oculomotor apraxia type 3	PIK3R5	PIK3R5	https://raresource.nih.gov/literature/disease/0013112	0013112	615217		C3554690		phosphoinositide-3-kinase regulatory subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia with oculomotor apraxia type 3"	None
Infantile liver failure syndrome 2	ilfs2//infantile liver failure caused by mutation in nbas//infantile liver failure syndrome type 2//nbas infantile liver failure	NBAS	NBAS	https://raresource.nih.gov/literature/disease/0013113	0013113	616483		C3809651		NBAS subunit of NRZ tethering complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile liver failure syndrome 2"	24
Infantile liver failure syndrome 1	acute infantile liver failure-multisystemic involvement syndrome//ilfs1//infantile liver failure caused by mutation in lars//infantile liver failure syndrome type 1//lars infantile liver failure	LARS1	LARS1	https://raresource.nih.gov/literature/disease/0013114	0013114	615438	370088	C3809522		leucyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile liver failure syndrome 1"	11
CIDEC-related familial partial lipodystrophy	cell death inducing dffa like effector c-related familial partial lipodystrophy//cidec-related fpld//familial partial lipodystrophy 5//fpld5//fpld5 - familial partial lipodystrophy type 5//lipodystrophy, familial partial, associated with cidec mutations	CIDEC	CIDEC	https://raresource.nih.gov/literature/disease/0013125	0013125	615238	435651	C3808940		cell death inducing DFFA like effector c	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CIDEC-related familial partial lipodystrophy"	1
LIPE-related familial partial lipodystrophy	familial partial lipodystrophy 6//familial partial lipodystrophy associated with lipe mutations//fpld6//fpld6 - familial partial lipodystrophy type 6//lipase e, hormone sensitive type-related familial partial lipodystrophy//lipe-related fpld//lipodystrophy, familial partial, associated with lipe mutations	LIPE	LIPE	https://raresource.nih.gov/literature/disease/0013126	0013126	615980	435660	C4014869		lipase E, hormone sensitive type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LIPE-related familial partial lipodystrophy"	1
Intellectual disability, autosomal dominant 30	autosomal dominant intellectual disability 30//autosomal dominant mental retardation 30//intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities//intellectual disability, autosomal dominant type 30//intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in zmynd11//mental retardation, autosomal dominant type 30//mrd30//zmynd11 intellectual disability-expressive aphasia-facial dysmorphism syndrome	ZMYND11	ZMYND11	https://raresource.nih.gov/literature/disease/0013136	0013136	616083		C4015167		zinc finger MYND-type containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 30"	None
Methylmalonic acidemia with homocystinuria, type cblX	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx//intellectual developmental disorder, x-linked 3//mahcx//methylmalonic aciduria and homocysteinemia, cblx type, x-linked recessive//methylmalonic aciduria with homocystinuria, type cblx	HCFC1	HCFC1	https://raresource.nih.gov/literature/disease/0013137	0013137	309541	369962	C0796208	C563136	host cell factor C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic acidemia with homocystinuria, type cblX"	None
Tibial muscular dystrophy	distal myopathy, udd type//distal titinopathy//finnish tibial muscular dystrophy//tardive tibial muscular dystrophy//tibial muscular dystrophy, tardive//tmd//udd distal myopathy//udd myopathy//udd type distal myopathy	TTN	TTN	https://raresource.nih.gov/literature/disease/0013154	0013154	600334	609	C1838244		titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tibial muscular dystrophy"	6102
Early-onset lamellar cataract		CRYAA;CRYGD;CRYGC;CRYGB;CRYAB;CRYGS;MIP;HSF4;CRYBA4;BFSP2;CRYBA1	CRYAA;CRYGD;CRYGC;CRYGB;CRYAB;CRYGS;MIP;HSF4;CRYBA4;BFSP2;CRYBA1	https://raresource.nih.gov/literature/disease/0013155	0013155		441452	C5681191		crystallin alpha A; crystallin gamma D; crystallin gamma C; crystallin gamma B; crystallin alpha B; crystallin gamma S; major intrinsic protein of lens fiber; heat shock transcription factor 4; crystallin beta A4; beaded filament structural protein 2; crystallin beta A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset lamellar cataract"	None
Hereditary papillary renal cell carcinoma	familial renal papillary carcinoma//hereditary kidney papillary carcinoma//hereditary papillary carcinoma of kidney//hereditary papillary carcinoma of the kidney//hereditary papillary renal carcinoma//hereditary papillary renal cell cancer//hprcc//renal cell carcinoma, papillary//renal cell carcinoma, papillary, 1, familial and somatic	MET;PRCC	MET;PRCC	https://raresource.nih.gov/literature/disease/0013157	0013157	605074	47044	C0879257		MET proto-oncogene, receptor tyrosine kinase; proline rich mitotic checkpoint control factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary papillary renal cell carcinoma"	65
Familial isolated trichomegaly		FGF5	FGF5	https://raresource.nih.gov/literature/disease/0013167	0013167		411788	C4706941		fibroblast growth factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated trichomegaly"	None
Spondyloepiphyseal dysplasia with congenital joint dislocations	carbohydrate sulfotransferase 3 related skeletal dysplasia//chondrodysplasia with congenital joint dislocations, chst3 type//chondrodysplasia with multiple dislocations//chst3-related skeletal dysplasia//humero-spinal dysostosis//humero-spinal dysostosis with congenital heart disease//humerospinal dysostosis//kozlowski celermajer tink syndrome//omani type//sdcd, chst3 type//sedcjd//spondyloepiphyseal dysplasia with congenital joint dyslocations chst3 type//spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type//spondyloepiphyseal dysplasia, omani type	CHST3	CHST3	https://raresource.nih.gov/literature/disease/0013169	0013169	143095	263463	C1837657	C537283	carbohydrate sulfotransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia with congenital joint dislocations"	14
Autosomal recessive brachyolmia	brachyolmia hobaek/toledo type//brachyolmia, autosomal recessive//brachyolmia, hobaek/toledo type	PAPSS2	PAPSS2	https://raresource.nih.gov/literature/disease/0013171	0013171		448242	C4760908		3'-phosphoadenosine 5'-phosphosulfate synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive brachyolmia"	4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	autosomal dominant progressive external ophthalmoplegia caused by mutation in polg//peoa1//polg autosomal dominant progressive external ophthalmoplegia//progressive external ophthalmoplegia, autosomal dominant 1	POLG	POLG	https://raresource.nih.gov/literature/disease/0013174	0013174			C1834846		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"	None
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	deficiency of s-adenosylhomocysteine hydrolase//hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency//psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency//s-adenosylhomocysteine hydrolase deficiency	AHCY	AHCY	https://raresource.nih.gov/literature/disease/0013177	0013177	613752	88618	C3151058		adenosylhomocysteinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	26
Intellectual disability, autosomal dominant 43	autosomal dominant intellectual disability 43//autosomal dominant mental retardation 43//autosomal dominant non-syndromic intellectual disability caused by mutation in hivep2//hivep2 autosomal dominant non-syndromic intellectual disability//intellectual developmental disorder, autosomal dominant 43//intellectual disability, autosomal dominant type 43//mental retardation, autosomal dominant 43//mental retardation, autosomal dominant type 43//mrd43	HIVEP2	HIVEP2	https://raresource.nih.gov/literature/disease/0013179	0013179	616977		C4310771		HIVEP zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 43"	None
Developmental and epileptic encephalopathy 94	chd2-related neurodevelopmental disorders//childhood onset epileptic encephalopathy//dee94//eeoc//epileptic encephalopathy, childhood-onset	CHD2	CHD2	https://raresource.nih.gov/literature/disease/0013197	0013197	615369		C3809278		chromodomain helicase DNA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 94"	24
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	aipds//aipdsb//autoinflammation, panniculitis and dermatosis syndrome//autoinflammation, panniculitis, and dermatosis syndrome//infantile-onset periodic fever, panniculitis, dermatosis syndrome//infantile-onset periodic fever-panniculitis-dermatosis syndrome//oras//otu deubiquitinase with linear linkage specificity related autoinflammatory syndrome//otulin (otu deubiquitinase with linear linkage specificity) related autoinflammatory syndrome//otulin deficiency//otulin-related autoinflammatory syndrome//otulipenia	OTULIN	OTULIN	https://raresource.nih.gov/literature/disease/0013198	0013198	617099	500062	C4310614		OTU deubiquitinase with linear linkage specificity	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive"	35
Cystic leukoencephalopathy without megalencephaly	clwm	RNASET2	RNASET2	https://raresource.nih.gov/literature/disease/0013199	0013199	612951	85136	C2751843	C567845	ribonuclease T2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystic leukoencephalopathy without megalencephaly"	None
Mitochondrial DNA depletion syndrome 8a	mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)//mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy//mitochondrial dna depletion syndrome caused by mutation in rrm2b//mitochondrial dna depletion syndrome type 8a//mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy//mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy//mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive//mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy//mtdps8a//ribonucleotide reductase regulatory tp53 inducible subunit m2b-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy//rrm2b mitochondrial dna depletion syndrome//rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy	RRM2B	RRM2B	https://raresource.nih.gov/literature/disease/0013200	0013200	612075	255235	C2749861		ribonucleotide reductase regulatory TP53 inducible subunit M2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 8a"	1
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	ca-va deficiency//carbonic anhydrase va deficiency//carbonic anhydrase va deficiency, hyperammonemia due to	CA5A	CA5A	https://raresource.nih.gov/literature/disease/0013201	0013201	615751	401948	C3810404		carbonic anhydrase 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	16
3-hydroxyisobutyryl-CoA hydrolase deficiency	3-hydroxyisobutryl-coa hydrolase deficiency//beta-hydroxyisobutyryl-coenzyme a deacylase deficiency//deficiency of 3-hydroxyisobutyryl coa hydrolase//deficiency of 3-hydroxyisobutyryl coenzyme a hydrolase//hibch deficiency//methacrylic acid toxicity//methacrylic aciduria//neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency//reduced circulating 3-hydroxyisobutyryl-coa hydrolase activity//valine metabolic defect	HIBCH	HIBCH	https://raresource.nih.gov/literature/disease/0013202	0013202	250620	88639	C0342738	C562803	3-hydroxyisobutyryl-CoA hydrolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-hydroxyisobutyryl-CoA hydrolase deficiency"	30
Chromosome 2q32-q33 deletion syndrome	2q32-q33 microdeletion syndrome//2q32q33 microdeletion syndrome//2q33.1 deletion syndrome//del(2)(q32)//del(2)(q32q33)//glass//glass syndrome//monosomy 2q32//monosomy 2q32-q33//monosomy 2q32q33	SATB2	SATB2	https://raresource.nih.gov/literature/disease/0013206	0013206	612313		C2676739	C567350	SATB homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 2q32-q33 deletion syndrome"	359
Pituitary stalk interruption syndrome	ectopic neurohypophysis//hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary//psis	ROBO1;CDON;LHX4;HESX1;GPR161	ROBO1;CDON;LHX4;HESX1;GPR161	https://raresource.nih.gov/literature/disease/0013209	0013209		95496	C4053775		roundabout guidance receptor 1; cell adhesion associated, oncogene regulated; LIM homeobox 4; HESX homeobox 1; G protein-coupled receptor 161	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary stalk interruption syndrome"	240
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome//poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis//poiktmp syndrome	FAM111B	FAM111B	https://raresource.nih.gov/literature/disease/0013218	0013218	615704	221043	C3810325		FAM111 trypsin like peptidase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sclerosing poikiloderma with tendon and pulmonary involvement"	2
BAP1-related tumor predisposition syndrome	bap1 tumor predisposition syndrome//common syndrome//tpds1//tumor predisposition syndrome 1//tumor susceptibility linked to germline bap1 mutations//tumour susceptibility linked to germline bap1 mutations	BAP1	BAP1	https://raresource.nih.gov/literature/disease/0013219	0013219	614327	289539	C3280492		BRCA1 associated deubiquitinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BAP1-related tumor predisposition syndrome"	52
Lethal congenital contracture syndrome 11	gldn lethal congenital contracture syndrome//lccs11//lethal congenital contracture syndrome 11; lccs11//lethal congenital contracture syndrome caused by mutation in gldn//lethal congenital contracture syndrome type 11	GLDN	GLDN	https://raresource.nih.gov/literature/disease/0013220	0013220	617194		C4310670		gliomedin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 11"	3
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy//bicd2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures//lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures//smaled2//smaled2a//spinal muscular atrophy, lower extremity-predominant, 2a, autosomal dominant//spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant	BICD2	BICD2	https://raresource.nih.gov/literature/disease/0013222	0013222	615290	363454	C4747715		BICD cargo adaptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	18
Familial acute necrotizing encephalopathy	adane//encephalopathy, acute, infection-induced, 3, susceptibility to//encephalopathy, acute, infection-induced, susceptibility to, 3//encephalopathy, acute, infection-induced, susceptibility to, type 3//iiae3//recurrent acute necrotizing encephalopathy//susceptibility to acute necrotizing encephalopathy 1	RANBP2	RANBP2	https://raresource.nih.gov/literature/disease/0013232	0013232	608033	88619	C2675556		RAN binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial acute necrotizing encephalopathy"	14
Microphthalmia, syndromic 12	mcops12//microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects//microphthalmia, syndromic type 12//rarb syndromic microphthalmia//syndromic microphthalmia caused by mutation in rarb	RARB	RARB	https://raresource.nih.gov/literature/disease/0013235	0013235	615524	689829	C3809803		retinoic acid receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, syndromic 12"	2
X-linked intellectual disability Cabezas type	cabezas syndrome//cabezas syndrome; syndromic x-linked intellectual disability 15//cabezas syndrome; syndromic x-linked mental retardation 15//intellectual developmental disorder, x-linked syndromic, cabezas type//intellectual disability, x-linked, syndromic 15 (cabezas type)//intellectual disability, x-linked, with short stature//mental retardation, x-linked, syndromic 15//mental retardation, x-linked, syndromic 15 (cabezas type)//mental retardation, x-linked, syndromic 15 (cabezas type), x-linked recessive//mental retardation, x-linked, with short stature//mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor//mrss//mrxs15//mrxsc//syndromic x-linked intellectual disability cabezas type//x-linked intellectual disability with short stature//x-linked intellectual disability with short stature, hypogonadism, and abnormal gait//x-linked mental retardation with short stature//x-linked mental retardation with short stature, hypogonadism, and abnormal gait	CUL4B	CUL4B	https://raresource.nih.gov/literature/disease/0013244	0013244	300354	85293	C1845861		cullin 4B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability Cabezas type"	13
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	asxl3-related disorder//bainbridge ropers syndrome//bainbridge-ropers syndrome//bainbridge-roppers syndrome//brps//severe feeding difficulties, failure to thrive, microcephaly due to asxl transcriptional regulator 3 deficiency syndrome	ASXL3	ASXL3	https://raresource.nih.gov/literature/disease/0013259	0013259	615485	352577	C4750837		ASXL transcriptional regulator 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	53
Infantile cerebellar-retinal degeneration	icrd//infantile cerebellar and retinal degeneration	ACO2	ACO2	https://raresource.nih.gov/literature/disease/0013264	0013264	614559	313850	C3281192		aconitase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile cerebellar-retinal degeneration"	13
PSAT deficiency	deficiency of phosphoserine aminotransferase//phosphoserine aminotransferase deficiency//phosphoserine aminotransferase deficiency, infantile/juvenile form//psat deficiency, infantile/juvenile form	PSAT1	PSAT1	https://raresource.nih.gov/literature/disease/0013273	0013273	610992	284417	C1970253	C567032	phosphoserine aminotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PSAT deficiency"	5
Platelet-type bleeding disorder 11	bdplt11//bleeding diathesis due to glycoprotein vi deficiency//bleeding disorder due to glycoprotein vi deficiency//bleeding disorder platelet-type 11//glycoprotein vi deficiency//gp vi deficiency//gp6 inherited bleeding disorder, platelet-type//inherited bleeding disorder, platelet-type caused by mutation in gp6	GP6	GP6	https://raresource.nih.gov/literature/disease/0013293	0013293	614201	98885	C3280120		glycoprotein VI platelet	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 11"	4
Cardiac arrhythmia, ankyrin-B-related	ankyrin-b syndrome	ANK2	ANK2	https://raresource.nih.gov/literature/disease/0013294	0013294	600919		C1970119		ankyrin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac arrhythmia, ankyrin-B-related"	21
Familial focal epilepsy with variable foci	epilepsy, familial focal, with variable foci//familial partial epilepsy with variable foci//ffevf//ffevf - familial focal epilepsy with variable foci//fpevf	DEPDC5;NPRL2;NPRL3	DEPDC5;NPRL2;NPRL3	https://raresource.nih.gov/literature/disease/0013295	0013295		98820	C1858477	C565785	DEP domain containing 5, GATOR1 subcomplex subunit; NPR2 like, GATOR1 complex subunit; NPR3 like, GATOR1 complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial focal epilepsy with variable foci"	16
Mitochondrial DNA depletion syndrome 13	f-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form//fbxl4 (f-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy//fbxl4 mitochondrial dna depletion syndrome//fbxl4-related early onset mitochondrial encephalopathy//fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome//mitochondrial dna depletion syndrome 13 (encephalomyopathic type)//mitochondrial dna depletion syndrome 13 encephalomyopathic type//mitochondrial dna depletion syndrome caused by mutation in fbxl4//mitochondrial dna depletion syndrome type 13//mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies//mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	FBXL4	FBXL4	https://raresource.nih.gov/literature/disease/0013298	0013298	615471	369897	C3809592		F-box and leucine rich repeat protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 13"	15
Schaaf-Yang syndrome	arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies//arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies//mage family member l2-related prader-willi-like syndrome//magel2-related prader-willi-like syndrome//magel2-related pwls//shfyng	MAGEL2	MAGEL2	https://raresource.nih.gov/literature/disease/0013316	0013316	615547	398069	C5575066	C535385	MAGE family member L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schaaf-Yang syndrome"	73
Developmental and epileptic encephalopathy, 12	dee12//early infantile epileptic encephalopathy 12//early infantile epileptic encephalopathy caused by mutation in plcb1//eiee12//epileptic encephalopathy, early infantile, 12//epileptic encephalopathy, early infantile, type 12//plcb1 early infantile epileptic encephalopathy	PLCB1	PLCB1	https://raresource.nih.gov/literature/disease/0013318	0013318	613722		C3150988		phospholipase C beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 12"	None
Fatty acyl-CoA reductase 1 deficiency	far1 deficiency//fatty acyl-coa reductase 1 disorder//fatty acyl-coa reductase 1 disorder or fatty acyl-coa reductase 1 deficiency//fatty acyl-coenzyme a reductase 1 deficiency//peroxisomal fatty acyl-coa reductase 1 disorder//pfcrd//pfcrd - peroxisomal fatty acyl-coa reductase 1 disorder//rhizomelic chondrodysplasia punctata type 4//severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency//severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-coa reductase 1 deficiency//severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder	FAR1	FAR1	https://raresource.nih.gov/literature/disease/0013319	0013319	616154	438178	C4015344		fatty acyl-CoA reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatty acyl-CoA reductase 1 deficiency"	6
Rhizomelic chondrodysplasia punctata type 5	pex5 rhizomelic chondrodysplasia punctata//rcdp5//rhizomelic chondrodysplasia punctata caused by mutation in pex5	PEX5	PEX5	https://raresource.nih.gov/literature/disease/0013320	0013320	616716	468717	C4225237		peroxisomal biogenesis factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhizomelic chondrodysplasia punctata type 5"	None
BENTA disease	b-cell expansion with nf-kb and t-cell anergy disease//b-cell expansion with nfkb and t-cell anergy//b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease//benta (b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy) disease	CARD11	CARD11	https://raresource.nih.gov/literature/disease/0013339	0013339	616452	464336	C4551967		caspase recruitment domain family member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BENTA disease"	9
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	culler-jones syndrome	GLI2	GLI2	https://raresource.nih.gov/literature/disease/0013349	0013349	615849	420584	C4014479		GLI family zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	9
Intellectual disability, autosomal recessive 58	autosomal recessive non-syndromic intellectual disability caused by mutation in elp2//elp2 autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 58//intellectual disability, autosomal recessive type 58//mental retardation, autosomal recessive 58//mental retardation, autosomal recessive type 58//mrt58	ELP2	ELP2	https://raresource.nih.gov/literature/disease/0013361	0013361	617270		C4310641		elongator acetyltransferase complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 58"	None
Epiphyseal dysplasia, multiple, 6	col9a1 multiple epiphyseal dysplasia (disease)//col9a1-related multiple epiphyseal dysplasia//epiphyseal dysplasia, multiple, type 6//multiple epiphyseal dysplasia (disease) caused by mutation in col9a1	COL9A1	COL9A1	https://raresource.nih.gov/literature/disease/0013376	0013376	614135		C2675767		collagen type IX alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epiphyseal dysplasia, multiple, 6"	None
Developmental and epileptic encephalopathy, 17	dee17//early infantile epileptic encephalopathy 17//early infantile epileptic encephalopathy caused by mutation in gnao1//early infantile epileptic encephalopathy-17//eiee17//epileptic encephalopathy, early infantile, 17//epileptic encephalopathy, early infantile, type 17//gnao1 early infantile epileptic encephalopathy	GNAO1	GNAO1	https://raresource.nih.gov/literature/disease/0013378	0013378	615473		C3809606		G protein subunit alpha o1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 17"	2
Intellectual disability, autosomal dominant 29	autosomal dominant intellectual disability 29//autosomal dominant mental retardation 29//intellectual developmental disorder, autosomal dominant 29//intellectual disability, autosomal dominant type 29//intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in setbp1//mental retardation, autosomal dominant type 29//mrd29//setbp1 haploinsufficiency disorder//setbp1 intellectual disability-expressive aphasia-facial dysmorphism syndrome	SETBP1	SETBP1	https://raresource.nih.gov/literature/disease/0013379	0013379	616078		C4015141		SET binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 29"	10
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	combined oxidative phosphorylation defect type 12//combined oxidative phosphorylation deficiency 12//combined oxidative phosphorylation deficiency caused by mutation in ears2//combined oxidative phosphorylation deficiency type 12//coxpd12//coxpd12 - combined oxidative phosphorylation defect type 12//ears2 combined oxidative phosphorylation deficiency//leukoencephalopathy with thalamus and brainstem involvement and high lactate//ltbl	EARS2	EARS2	https://raresource.nih.gov/literature/disease/0013381	0013381	614924	314051	C4706421		glutamyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"	13
Berardinelli-Seip congenital lipodystrophy	beradinelli-seip syndrome//berardinelli lipodystrophy syndrome//berardinelli seip syndrome//berardinelli-seip syndrome//brunzell syndrome//bscl//cgl//gcl//generalised congenital lipodystrophy//generalized congenital lipodystrophy//lipoatrophic diabetes//seip-bernardinelli syndrome//total lipodystrophy	PPARG;FOS	PPARG;FOS	https://raresource.nih.gov/literature/disease/0013388	0013388		528	CN262437		peroxisome proliferator activated receptor gamma; Fos proto-oncogene, AP-1 transcription factor subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Berardinelli-Seip congenital lipodystrophy"	887
Congenital generalized lipodystrophy type 3	berardinelli-seip congenital lipodystrophy type 3//berardinelli-seip congenital lipodystrophy, type 3//bscl3//cav1 congenital generalised lipodystrophy (disease)//cav1 congenital generalized lipodystrophy (disease)//cgl3//congenital generalised lipodystrophy (disease) caused by mutation in cav1//congenital generalized lipodystrophy (disease) caused by mutation in cav1	CAV1	CAV1	https://raresource.nih.gov/literature/disease/0013389	0013389	612526		C2675861	C567282	caveolin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital generalized lipodystrophy type 3"	3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	at-hook dna binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome//autosomal dominant intellectual disability 25//autosomal dominant mental retardation 25//mrd25//xia gibbs syndrome//xia-gibbs syndrome	AHDC1	AHDC1	https://raresource.nih.gov/literature/disease/0013409	0013409	615829	412069	C4014419		AT-hook DNA binding motif containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	38
Rahman syndrome	autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1-4 mutation//autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1.4 linker histone, cluster member mutation//autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to h1-4 mutation//h1-4-related neurodevelopmental disorder	H1-4	H1-4	https://raresource.nih.gov/literature/disease/0013422	0013422	617537	642763	C4479637		H1.4 linker histone, cluster member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rahman syndrome"	12
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	mecrcn//metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration//metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration//tango2 deficiency//tango2 deficiency disorder//tango2-related metabolic encephalopathy, arrhythmia syndrome//tango2-related metabolic encephalopathy-arrhythmia syndrome//transport and golgi organisation protein 2 (tango2) deficiency//transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome//transport and golgi organization protein 2 (tango2) deficiency	TANGO2	TANGO2	https://raresource.nih.gov/literature/disease/0013423	0013423	616878	480864	C5567524		transport and golgi organization 2 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"	32
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	asct1 deficiency//spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome//spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome//spastic tetraplegia, thin corpus callosum, and progressive microcephaly	SLC1A4	SLC1A4	https://raresource.nih.gov/literature/disease/0013425	0013425	616657	447997	C4225254		solute carrier family 1 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	3
Intellectual disability, X-linked, syndromic, Bain type	intellectual developmental disorder, x-linked, syndromic, bain type//intellectual developmental disorder, x-linked, syndromic, bain type, x-linked dominant//mental retardation, x-linked, syndromic, bain type//mrxsb	HNRNPH2	HNRNPH2	https://raresource.nih.gov/literature/disease/0013442	0013442	300986	662198	C4310814		heterogeneous nuclear ribonucleoprotein H2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked, syndromic, Bain type"	4
Familial juvenile hyperuricemic nephropathy type 2	adtkd-ren//adtkd4//autosomal dominant tubulointerstitial kidney disease due to mutations in ren//early-onset hyperuricemia, anemia, and progressive kidney failure//familial juvenile hyperuricemic nephropathy caused by mutation in ren//fjhn type 2//hyperuricemic nephropathy, familial juvenile, type 2//ren familial juvenile hyperuricemic nephropathy//ren-associated familial juvenile hyperuricemic nephropathy//ren-associated fjhn//ren-associated kidney disease//ren-related autosomal dominant tubulointerstitial kidney disease//tubulointerstitial kidney disease, autosomal dominant, 4	REN	REN	https://raresource.nih.gov/literature/disease/0013461	0013461	613092	217330	C2751310	C567760	renin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial juvenile hyperuricemic nephropathy type 2"	6
Hemochromatosis type 5	ferritin heavy chain 1-related iron overload//fth1 (ferritin heavy chain 1) related iron overload//fth1 hereditary hemochromatosis//fth1-associated iron overload//fth1-related iron overload//hereditary hemochromatosis caused by mutation in fth1//hfe5//iron overload, autosomal dominant	FTH1	FTH1	https://raresource.nih.gov/literature/disease/0013472	0013472	615517	247790	C1851316	C565020	ferritin heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 5"	None
Intellectual disability-epilepsy-extrapyramidal syndrome	dyskinesia, seizures, and intellectual developmental disorder//nedhels//neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures	DEAF1	DEAF1	https://raresource.nih.gov/literature/disease/0013474	0013474	617171	468620	C4310683		DEAF1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-epilepsy-extrapyramidal syndrome"	None
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	cleft palate, cardiac defects, and impaired intellectual development	MEIS2	MEIS2	https://raresource.nih.gov/literature/disease/0013480	0013480			C1832950	C563414	Meis homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies"	None
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	autosomal recessive childhood-onset dystonia dyt29 type//autosomal recessive childhood-onset dystonia, dyt29 type//childhood-onset generalized dystonia, optic atrophy syndrome//childhood-onset generalized dystonia-optic atrophy syndrome//dystonia 29//dystonia 29, childhood-onset//dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; dytoabg//dyt29//dyt29 - dystonia 29//dytoabg//mepan syndrome//mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome//mitochondrial enoyl coenzyme a reductase protein-associated neurodegeneration syndrome	MECR	MECR	https://raresource.nih.gov/literature/disease/0013488	0013488	617282	508093	C4310634		mitochondrial trans-2-enoyl-CoA reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"	3
ZTTK syndrome	brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome//brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome//tokims//tokita-kim syndrome//zhu tokita takenouchi kim syndrome//zhu-tokita-takenouchi-kim syndrome//zttk multiple congenital anomalies-mental retardation syndrome//zttks	SON	SON	https://raresource.nih.gov/literature/disease/0013489	0013489	617140	500150	C4310696		SON DNA and RNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ZTTK syndrome"	32
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy//dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy//kugelberg-welander syndrome, autosomal dominant//lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures//smaled1//spinal muscular atrophy, childhood, proximal, autosomal dominant//spinal muscular atrophy, juvenile, proximal, autosomal dominant//spinal muscular atrophy, lower extremity-predominant 1, ad	DYNC1H1	DYNC1H1	https://raresource.nih.gov/literature/disease/0013519	0013519	158600	209341	C5780022	C563560	dynein cytoplasmic 1 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures"	4
Intellectual disability, autosomal dominant 56	cltc-related disorder//cltc-related id//cltc-related intellectual disability//intellectual developmental disorder, autosomal dominant 56//mental retardation, autosomal dominant 56	CLTC	CLTC	https://raresource.nih.gov/literature/disease/0013524	0013524	617854		C4693389		clathrin heavy chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 56"	1
DYRK1A-related intellectual disability syndrome	autosomal dominant intellectual disability 7//autosomal dominant mental retardation 7//dual specificity tyrosine phosphorylation regulated kinase 1a-related intellectual disability syndrome//dyrk1a (dual specificity tyrosine phosphorylation regulated kinase 1a)-related intellectual disability syndrome//dyrk1a syndrome//intellectual developmental disorder, autosomal dominant 7//intellectual disability, autosomal dominant type 7//mental retardation, autosomal dominant type 7//mrd7	DYRK1A	DYRK1A	https://raresource.nih.gov/literature/disease/0013527	0013527	614104	464306	C5568143		dual specificity tyrosine phosphorylation regulated kinase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DYRK1A-related intellectual disability syndrome"	30
Intellectual disability, autosomal dominant 40	autosomal dominant intellectual disability 40//autosomal dominant mental retardation 40//autosomal dominant non-syndromic intellectual disability caused by mutation in champ1//champ1 autosomal dominant non-syndromic intellectual disability//intellectual disability, autosomal dominant type 40//mental retardation, autosomal dominant type 40//mrd40//nedhild//neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features	CHAMP1	CHAMP1	https://raresource.nih.gov/literature/disease/0013539	0013539	616579		C5676894		chromosome alignment maintaining phosphoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 40"	3
Combined immunodeficiency due to LRBA deficiency	cid due to lrba deficiency//combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency//common variable immunodeficiency 8, with autoimmunity	LRBA	LRBA	https://raresource.nih.gov/literature/disease/0013565	0013565	614700	445018	C3553512		LPS responsive beige-like anchor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to LRBA deficiency"	None
Hereditary spastic paraplegia 49	autosomal recessive spastic paraplegia 49//autosomal recessive spastic paraplegia type 49//hereditary sensory and autonomic neuropathy due to tecpr2 mutation//hereditary spastic paraplegia caused by mutation in tecpr2//hereditary spastic paraplegia type 49//hsan due to tecpr2 mutation//hsan9//neuropathy, hereditary sensory and autonomic, type ix, with developmental delay//spastic paraplegia 49, autosomal recessive//spg49//tecpr2 hereditary spastic paraplegia	TECPR2	TECPR2	https://raresource.nih.gov/literature/disease/0013568	0013568	615031	320385	C3542549		tectonin beta-propeller repeat containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 49"	7
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency//thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	TPK1	TPK1	https://raresource.nih.gov/literature/disease/0013571	0013571	614458	293955	C3280866		thiamin pyrophosphokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	None
Combined immunodeficiency with skin granulomas	cid due to rag 1/2 deficiency//combined immunodeficiency due to rag 1/2 deficiency//combined immunodeficiency with granulomatosis	RAG1;RAG2	RAG1;RAG2	https://raresource.nih.gov/literature/disease/0013587	0013587	233650	157949	C2673536	C567115	recombination activating 1; recombination activating 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency with skin granulomas"	None
Postural orthostatic tachycardia syndrome	chronic othostatic intolerance//familial orthostatic tachycardia due to norepinephrine transporter deficiency//irritable heart//orhtostatic intolerance//orthostatic intolerance due to net deficiency//postural orthostatic tachycardia syndrome due to net deficiency//postural tachycardia syndrome//postural tachycardia syndrome due to net deficiency//pots//pots - postural orthostatic tachycardia syndrome//pots - postural tachycardia syndrome//pots due to net deficiency//soldiers heart	SLC6A2	SLC6A2	https://raresource.nih.gov/literature/disease/0013591	0013591	604715	443236	C1299624	D054972	solute carrier family 6 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postural orthostatic tachycardia syndrome"	1616
Brain dopamine-serotonin vesicular transport disease	brain monoamine vesicular transport disease//parkinsonism-dystonia 2, infantile-onset//parkinsonism-dystonia, infantile, 2//pkdys2	SLC18A2	SLC18A2	https://raresource.nih.gov/literature/disease/0013594	0013594	618049	352649	C4303546		solute carrier family 18 member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain dopamine-serotonin vesicular transport disease"	10
Neurodevelopmental disorder with severe motor impairment and absent language	dhx30-related complex neurodevelopmental disorder//neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome//neurodevelopmental disorder with variable motor and language impairment	DHX30	DHX30	https://raresource.nih.gov/literature/disease/0013608	0013608	617804	647788	C4540496		DExH-box helicase 30	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with severe motor impairment and absent language"	1
Developmental and epileptic encephalopathy, 50	cad-cdg//cad-cdg - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation//carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation//carbohydrate deficient glycoprotein syndrome type iz//cdg syndrome type iz//cdg-iz//cdg1z//congenital disorder of glycosylation type 1z//dee50//eiee50//epileptic encephalopathy, early infantile, 50	CAD	CAD	https://raresource.nih.gov/literature/disease/0013621	0013621	616457	448010	C4225320		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 50"	4
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism//minds (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome//minds syndrome//smith kingsmore syndrome//smith-kingsmore syndrome	MTOR	MTOR	https://raresource.nih.gov/literature/disease/0013636	0013636	616638	457485	C4225259		mechanistic target of rapamycin kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	17
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	x-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females//x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females//x-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females	USP9X	USP9X	https://raresource.nih.gov/literature/disease/0013638	0013638		480880	C5567523		ubiquitin specific peptidase 9 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"	None
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	classic galactosemia//classical galactosemia//deficiency of galactose-1-phosphate uridyl transferase//deficiency of hexose-1-phosphate uridylyltransferase//deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase//deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase//deficiency of uridyl transferase//deficiency of utp-hexose-1-phosphate uridylyltransferase//galactose-1-phosphate uridyltransferase deficiency//galactose-1-phosphate uridylyltransferase deficiency//galactosemia i//galactosemia type 1//galactosemia, classic//galt deficiency//transferase deficiency galactosemia//utp-hexose-1-phosphate uridyltransferase deficiency	GALT	GALT	https://raresource.nih.gov/literature/disease/0013639	0013639	230400	79239	C0268151		galactose-1-phosphate uridylyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase"	476
Hereditary cavernous hemangioma of brain	familial brain cavernous angioma//familial brain cavernous hemangioma//familial cerebral cavernoma//familial cerebral cavernous malformation//famililal cerebral cavernous malformations//hereditary brain cavernous angioma//hereditary brain cavernous hemangioma//hereditary cerebral cavernoma//hereditary cerebral cavernous malformation	KRIT1;PIK3CA;PDCD10;CCM2	KRIT1;PIK3CA;PDCD10;CCM2	https://raresource.nih.gov/literature/disease/0013641	0013641		221061	C2931263		KRIT1 ankyrin repeat containing; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; programmed cell death 10; CCM2 scaffold protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary cavernous hemangioma of brain"	73
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	dguok mitochondrial dna depletion syndrome//dguok-related mitochondrial dna depletion syndrome, hepatocerebral form//mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency//mitochondrial dna depletion syndrome 3//mitochondrial dna depletion syndrome caused by mutation in dguok//mitochondrial dna depletion syndrome type 3//mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency	DGUOK	DGUOK	https://raresource.nih.gov/literature/disease/0013644	0013644	251880	279934	C5191055		deoxyguanosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	1
Orofaciodigital syndrome type 14	c2cd3 orofaciodigital syndrome//microcephaly, cerebral malformation, orofaciodigital syndrome//microcephaly-cerebral malformation-orofaciodigital syndrome//ofd14//oral-facial-digital syndrome type 14//oro-facial digital syndrome type 14//orofaciodigital syndrome caused by mutation in c2cd3//orofaciodigital syndrome xiv	C2CD3	C2CD3	https://raresource.nih.gov/literature/disease/0013655	0013655	615948	434179	C4706604		C2 domain containing 3 centriole elongation regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 14"	3
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	neurodegeneration, childhood-onset, with brain atrophy//ubtf-related disorder	UBTF	UBTF	https://raresource.nih.gov/literature/disease/0013658	0013658	617672	500180	C4540086		upstream binding transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	None
Classic multiminicore myopathy		TTN;MYH7;SELENON	TTN;MYH7;SELENON	https://raresource.nih.gov/literature/disease/0013661	0013661		324604	C5679883		titin; myosin heavy chain 7; selenoprotein N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic multiminicore myopathy"	None
Familial sick sinus syndrome	familial sinus node dysfunction//hereditary sick sinus syndrome	GNB2;SCN5A;HCN4	GNB2;SCN5A;HCN4	https://raresource.nih.gov/literature/disease/0013663	0013663		166282	C0340491	C563907	G protein subunit beta 2; sodium voltage-gated channel alpha subunit 5; hyperpolarization activated cyclic nucleotide gated potassium channel 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial sick sinus syndrome"	20
Developmental and epileptic encephalopathy, 18	dee18//early infantile epileptic encephalopathy 18//early infantile epileptic encephalopathy without suppression burst//eiee18//epileptic encephalopathy, early infantile, 18//epileptic encephalopathy, early infantile, type 18	SZT2	SZT2	https://raresource.nih.gov/literature/disease/0013676	0013676	615476		C3809624		SZT2 subunit of KICSTOR complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 18"	2
Developmental and epileptic encephalopathy, 64	dee64//eiee64//epileptic encephalopathy, early infantile, 64//rhobtb2 syndrome//rhobtb2-associated neurodevelopmental disorders	RHOBTB2	RHOBTB2	https://raresource.nih.gov/literature/disease/0013681	0013681	618004		C4693899		Rho related BTB domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 64"	1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	autosomal dominant intellectual disability 8//autosomal dominant mental retardation 8//autosomal dominant non-syndromic intellectual disability caused by mutation in grin1//grin1 autosomal dominant non-syndromic intellectual disability//intellectual disability, autosomal dominant 8//intellectual disability, autosomal dominant type 8//mental retardation, autosomal dominant 8//mental retardation, autosomal dominant 8, formerly//mental retardation, autosomal dominant type 8//mrd8//ndhmsd	GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0013686	0013686	614254		C3280282		glutamate ionotropic receptor NMDA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"	1
Warsaw breakage syndrome	wabs	DDX11	DDX11	https://raresource.nih.gov/literature/disease/0013708	0013708	613398	280558	C3150658		DEAD/H-box helicase 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warsaw breakage syndrome"	40
Combined immunodeficiency due to partial RAG1 deficiency	cid due to partial rag1 deficiency//cid with expansion of gamma delta t cells//combined immunodeficiency with expansion of gamma delta t cells	RAG1	RAG1	https://raresource.nih.gov/literature/disease/0013712	0013712	609889	231154	C1835931	C563691	recombination activating 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to partial RAG1 deficiency"	None
Hereditary spastic paraplegia 51	ap4e1 hereditary spastic paraplegia//autosomal dominant spastic paraplegia 51//cerebral palsy, spastic quadriplegic, 4//cpsq4//hereditary spastic paraplegia caused by mutation in ap4e1//hereditary spastic paraplegia type 51//spastic paraplegia 51//spastic paraplegia 51, autosomal recessive//spastic quadriplegic cerebral palsy 4//spg51	AP4E1	AP4E1	https://raresource.nih.gov/literature/disease/0013737	0013737	613744		C3151056		adaptor related protein complex 4 subunit epsilon 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 51"	1
Multicentric osteolysis, nodulosis, and arthropathy	al-aqeel sewairi syndrome//mona//mona, mmp2-related//multicentric osteolysis, nodulosis and arthropathy, mmp2-related//osteolysis, hereditary multicentric//torg syndrome//winchester-torg syndrome	MMP2	MMP2	https://raresource.nih.gov/literature/disease/0013743	0013743			CN322832		matrix metallopeptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multicentric osteolysis, nodulosis, and arthropathy"	27
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	autosomal dominant intellectual disability 37//autosomal dominant mental retardation 37//intellectual disability, autosomal dominant type 37//mental retardation, autosomal dominant type 37//mrd37//white sutton syndrome//white-sutton syndrome//whsus	POGZ	POGZ	https://raresource.nih.gov/literature/disease/0013774	0013774	616364	468678	C4225351		pogo transposable element derived with ZNF domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	27
AICA-ribosiduria	5-amino-4-imidazole carboxamide ribosiduria//aica (5-amino-4-imidazole carboxamide) ribosiduria//aica-ribosiduria due to atic deficiency//aicar transformylase/imp cyclohydrolase deficiency//atic (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency//atic deficiency	ATIC	ATIC	https://raresource.nih.gov/literature/disease/0013781	0013781	608688	250977	C1837530	C563876	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AICA-ribosiduria"	14
Luscan-Lumish syndrome	lls//luscan-lumish syndrome; lls//set domain containing 2, histone lysine methyltransferase related overgrowth syndrome//setd2 (set domain containing 2, histone lysine methyltransferase) related overgrowth syndrome//setd2-related overgrowth syndrome	SETD2	SETD2	https://raresource.nih.gov/literature/disease/0013789	0013789	616831	597738	C4085873		SET domain containing 2, histone lysine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Luscan-Lumish syndrome"	170
Snijders Blok-Campeau syndrome	chd3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome//chd3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome//chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome//intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies	CHD3	CHD3	https://raresource.nih.gov/literature/disease/0013806	0013806	618205	599082	C4748701		chromodomain helicase DNA binding protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Snijders Blok-Campeau syndrome"	20
Pigmentary retinal dystrophy	fundus albipunctatus//prph2-related fundus albipunctatus//rdh5-related fundus albipunctatus//rlbp1-related fundus albipunctatus	RDH5;RLBP1;PRPH2;RHO	RDH5;RLBP1;PRPH2;RHO	https://raresource.nih.gov/literature/disease/0013809	0013809	136880	227796	C0311338	C562733	retinol dehydrogenase 5; retinaldehyde binding protein 1; peripherin 2; rhodopsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmentary retinal dystrophy"	156
Malan overgrowth syndrome	malan syndrome//malns//sotos syndrome 2//sotos syndrome type 2	NFIX	NFIX	https://raresource.nih.gov/literature/disease/0013811	0013811	614753	420179	C3553660		nuclear factor I X	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malan overgrowth syndrome"	40
Nephrotic syndrome 14	familial steroid-resistant nephrotic syndrome with adrenal insufficiency//nephrotic syndrome, type 14//primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency//renal, endocrine, neurologic and immune syndrome//renal, endocrine, neurologic, and immune syndrome//reni syndrome//sgpl1 deficiency, steroid-resistant nephrotic syndrome type 14//sphingosine phosphate lyase insufficiency syndrome//splis	SGPL1	SGPL1	https://raresource.nih.gov/literature/disease/0013818	0013818	617575	506334	C4540559		sphingosine-1-phosphate lyase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome 14"	19
Proteosome-associated autoinflammatory syndrome	aldd//aldd syndrome//autoinflammation, lipodystrophy and dermatosis syndrome//autoinflammation, lipodystrophy, and dermatosis syndrome//autoinflammation-lipodystrophy-dermatosis syndrome//candle syndrome//chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature//chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome//chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome//japanese autoinflammatory syndrome with lipodystrophy//jmp syndrome//joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy//joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy//joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy//joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome//nakajo nishimura syndrome//nakajo syndrome//nakajo-nishimura syndrome//nns//praas//proteasome disability syndrome//proteasome-associated autoinflammatory syndrome//secondary hypertrophic osteoperiostosis with pernio	PSMB8	PSMB8	https://raresource.nih.gov/literature/disease/0013824	0013824		324977	C1850568	C538334	proteasome 20S subunit beta 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteosome-associated autoinflammatory syndrome"	133
DNA ligase IV deficiency	deoxyribonucleic acid ligase iv deficiency//dna (deoxyribonucleic acid) ligase iv deficiency//lig4 (ligase 4) syndrome//lig4 syndrome//ligase 4 syndrome	LIG4	LIG4	https://raresource.nih.gov/literature/disease/0015000	0015000	606593	99812	C1847827	C564694	DNA ligase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DNA ligase IV deficiency"	58
VEXAS syndrome	vacuoles, e1 enzyme, x-linked, autoinflammatory, somatic syndrome//vexas//vexas syndrome, somatic	UBA1	UBA1	https://raresource.nih.gov/literature/disease/0015001	0015001	301054	596753	C5435753		ubiquitin like modifier activating enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=VEXAS syndrome"	554
Autoinflammation with episodic fever and lymphadenopathy	aiefl//cleavage-resistant ripk1-induced autoinflammatory syndrome//cria syndrome	RIPK1	RIPK1	https://raresource.nih.gov/literature/disease/0015002	0015002	618852		C5394286		receptor interacting serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammation with episodic fever and lymphadenopathy"	2
Protein-losing enteropathy	cd55 deficiency//chaple syndrome//complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome//enteropathy, exudative//exudative enteropathy//ple - protein-losing enteropathy//protein-losing enteropathies//protein-losing enteropathy (disease)	CD55	CD55	https://raresource.nih.gov/literature/disease/0015003	0015003	226300	566175	C0033680	D011504	CD55 molecule (Cromer blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Protein-losing enteropathy"	2175
FADD-related immunodeficiency	fadd deficiency//immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction//infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	FADD	FADD	https://raresource.nih.gov/literature/disease/0015004	0015004	613759	306550	C3151062		Fas associated via death domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FADD-related immunodeficiency"	29
Warburg-cinotti syndrome		DDR2	DDR2	https://raresource.nih.gov/literature/disease/0015007	0015007	618175		C5193019		discoidin domain receptor tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warburg-cinotti syndrome"	5
Okur-Chung neurodevelopmental syndrome	ocnds//okur-chung neurodevelopmental syndrome; ocnds	CSNK2A1	CSNK2A1	https://raresource.nih.gov/literature/disease/0015008	0015008	617062	689422	C4310739		casein kinase 2 alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Okur-Chung neurodevelopmental syndrome"	30
Hereditary breast ovarian cancer syndrome	brca1- and brca2-associated hereditary breast and ovarian cancer//brca1- and brca2-associated hereditary breast and ovarian cancer (hboc)//breast and ovarian cancer//familial breast and ovarian cancer syndrome//familial breast/ovarian cancer (brca1, brca2)//hereditary breast and ovarian cancer//hereditary breast and ovarian cancer syndrome//hereditary breast and ovarian cancer syndrome (hboc)//hereditary breast and/or ovarian cancer syndrome//hereditary breast/ovarian cancer (brca1, brca2)	BRCA1;RAD51C;BRCA2;RAD51D	BRCA1;RAD51C;BRCA2;RAD51D	https://raresource.nih.gov/literature/disease/0015010	0015010		145	C0677776	D061325	BRCA1 DNA repair associated; RAD51 paralog C; BRCA2 DNA repair associated; RAD51 paralog D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary breast ovarian cancer syndrome"	4093
Hypophosphatemic rickets, X-linked recessive	clcn5 x-linked hypophosphatemic rickets//x-linked hypophosphatemic rickets caused by mutation in clcn5//xlhrr	CLCN5	CLCN5	https://raresource.nih.gov/literature/disease/0015011	0015011	300554		C1845168		chloride voltage-gated channel 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypophosphatemic rickets, X-linked recessive"	None
Autosomal recessive osteopetrosis	autosomal recessive malignant osteopetrosis//autosomal recessive osteopetrosis (disease)//infantile malignant osteopetrosis//optb//osteopetrosis (disease), autosomal recessive	TCIRG1;SNX10;CLCN7;TNFSF11	TCIRG1;SNX10;CLCN7;TNFSF11	https://raresource.nih.gov/literature/disease/0015012	0015012		667	C4272578		T cell immune regulator 1, ATPase H+ transporting V0 subunit a3; sorting nexin 10; chloride voltage-gated channel 7; TNF superfamily member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis"	247
Craniometaphyseal dysplasia	craniometadiaphyseal dysplasia	ANKH;GJA1	ANKH;GJA1	https://raresource.nih.gov/literature/disease/0015013	0015013		1522	C0265292		ANKH inorganic pyrophosphate transport regulator; gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniometaphyseal dysplasia"	154
Achromatopsia	achm//achromatism//complete or incomplete color blindness//complete or incomplete colour blindness//monochromatism//pingelapese blindness//rod monochromacy//rod monochromatism//total color blindness//total colour blindness	GNAT2;ATF6;CNGA3;PDE6C;PDE6H;CNGB3	GNAT2;ATF6;CNGA3;PDE6C;PDE6H;CNGB3	https://raresource.nih.gov/literature/disease/0015015	0015015		49382	C0152200		G protein subunit alpha transducin 2; activating transcription factor 6; cyclic nucleotide gated channel subunit alpha 3; phosphodiesterase 6C; phosphodiesterase 6H; cyclic nucleotide gated channel subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia"	580
Striate palmoplantar keratoderma	keratosis palmoplantaris striata//keratosis palmoplantaris striata et areata//keratosis palmoplantaris varians of wachters	DSG1;DSP;KRT1	DSG1;DSP;KRT1	https://raresource.nih.gov/literature/disease/0015016	0015016		50942	C4707237		desmoglein 1; desmoplakin; keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Striate palmoplantar keratoderma"	40
Fibronectin glomerulopathy	gfnd//glomerulopathy with fibronectin deposits	FN1	FN1	https://raresource.nih.gov/literature/disease/0015019	0015019		84090	C3888104	C536826;C562900	fibronectin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibronectin glomerulopathy"	55
Panhypopituitarism	complete hypopituitarism//deficient secretion of all pituitary hormones//genetic panhypopituitarism//non-acquired panhypopituitarism//primary hypopituitarism//simmond's disease//simmonds' disease	SOX3;PROP1	SOX3;PROP1	https://raresource.nih.gov/literature/disease/0015020	0015020		90695	C0242343		SRY-box transcription factor 3; PROP paired-like homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Panhypopituitarism"	1744
Postsynaptic congenital myasthenic syndrome	postsynaptic congenital myasthenic syndromes	AK9;SCN4A;MUSK;CHRNA1;CHRND;CHRNE;COL13A1;AGRN;RAPSN;DOK7;LRP4;CHRNB1	AK9;SCN4A;MUSK;CHRNA1;CHRND;CHRNE;COL13A1;AGRN;RAPSN;DOK7;LRP4;CHRNB1	https://raresource.nih.gov/literature/disease/0015022	0015022		98913	C0751883		adenylate kinase 9; sodium voltage-gated channel alpha subunit 4; muscle associated receptor tyrosine kinase; cholinergic receptor nicotinic alpha 1 subunit; cholinergic receptor nicotinic delta subunit; cholinergic receptor nicotinic epsilon subunit; collagen type XIII alpha 1 chain; agrin; receptor associated protein of the synapse; docking protein 7; LDL receptor related protein 4; cholinergic receptor nicotinic beta 1 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postsynaptic congenital myasthenic syndrome"	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly		COL9A1;COL9A3;COL9A2	COL9A1;COL9A3;COL9A2	https://raresource.nih.gov/literature/disease/0015024	0015024		166002	C4707798		collagen type IX alpha 1 chain; collagen type IX alpha 3 chain; collagen type IX alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia due to collagen 9 anomaly"	None
Immunodeficiency due to a classical component pathway complement deficiency	classical complement pathway abnormality//immunodeficiency due to a c1, c4, or c2 component complement deficiency//immunodeficiency due to an early component of complement deficiency//immunodeficiency due to c1, c4, or c2 component complement deficiency	C1QB;C2;C4B;C1QC;C4A;C1S;C1R;C1QA	C1QB;C2;C4B;C1QC;C4A;C1S;C1R;C1QA	https://raresource.nih.gov/literature/disease/0015025	0015025		169147	C0398750		complement C1q B chain; complement C2; complement C4B (Chido/Rodgers blood group); complement C1q C chain; complement C4A (Chido/Rodgers blood group); complement C1s; complement C1r; complement C1q A chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency due to a classical component pathway complement deficiency"	None
Hermansky-Pudlak syndrome 2	ap3b1 hermansky-pudlak syndrome//hermansky-pudlak syndrome caused by mutation in ap3b1//hermansky-pudlak syndrome due to ap-3 deficiency//hermansky-pudlak syndrome type 2//hermansky-pudlak syndrome with neutropenia//hps-2//hps2//platelet defects and oculocutaneous albinism	AP3B1	AP3B1	https://raresource.nih.gov/literature/disease/0015026	0015026	608233	183678	C1842362	C537709	adaptor related protein complex 3 subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 2"	46
Familial pulmonary capillary hemangiomatosis	pulmonary venoocclusive disease 2//pulmonary venoocclusive disease 2, autosomal recessive//pvod2	EIF2AK4	EIF2AK4	https://raresource.nih.gov/literature/disease/0015027	0015027	234810	199241	C0340848	C535861	eukaryotic translation initiation factor 2 alpha kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial pulmonary capillary hemangiomatosis"	1
Undetermined early-onset epileptic encephalopathy	non-specific early-onset epileptic encephalopathy//non-specific eoee//undetermined eoee	GABRA5;FZR1;ACTL6B;WWOX;PPP3CA;NTRK2;GRIN2D;GABRB2;FOXG1;EEF1A2;DNM1;SLC38A3;CDK19;FGF12;GABRG2;HCN1;KCNC2;YWHAG;GABBR2;KCNA2;ATP1A2;ATP1A3;ATP6V1A;CACNA2D1;DHDDS;NUS1;SZT2;PARS2;FBXO28;SCN1A;SCN3A;SYNJ1;CYFIP2;AARS1;SLC13A5;CELF2;DALRD3;TRAK1;KCNB1;SLC1A2;CACNA1A;CNKSR2;CLTC;UBA5;PACS2;GABRA2;AP3B2;SCN8A;CACNA1B;NECAP1	GABRA5;FZR1;ACTL6B;WWOX;PPP3CA;NTRK2;GRIN2D;GABRB2;FOXG1;EEF1A2;DNM1;SLC38A3;CDK19;FGF12;GABRG2;HCN1;KCNC2;YWHAG;GABBR2;KCNA2;ATP1A2;ATP1A3;ATP6V1A;CACNA2D1;DHDDS;NUS1;SZT2;PARS2;FBXO28;SCN1A;SCN3A;SYNJ1;CYFIP2;AARS1;SLC13A5;CELF2;DALRD3;TRAK1;KCNB1;SLC1A2;CACNA1A;CNKSR2;CLTC;UBA5;PACS2;GABRA2;AP3B2;SCN8A;CACNA1B;NECAP1	https://raresource.nih.gov/literature/disease/0015028	0015028		442835	C5680057		gamma-aminobutyric acid type A receptor subunit alpha5; fizzy and cell division cycle 20 related 1; actin like 6B; WW domain containing oxidoreductase; protein phosphatase 3 catalytic subunit alpha; neurotrophic receptor tyrosine kinase 2; glutamate ionotropic receptor NMDA type subunit 2D; gamma-aminobutyric acid type A receptor subunit beta2; forkhead box G1; eukaryotic translation elongation factor 1 alpha 2; dynamin 1; solute carrier family 38 member 3; cyclin dependent kinase 19; fibroblast growth factor 12; gamma-aminobutyric acid type A receptor subunit gamma2; hyperpolarization activated cyclic nucleotide gated potassium channel 1; potassium voltage-gated channel subfamily C member 2; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma; gamma-aminobutyric acid type B receptor subunit 2; potassium voltage-gated channel subfamily A member 2; ATPase Na+/K+ transporting subunit alpha 2; ATPase Na+/K+ transporting subunit alpha 3; ATPase H+ transporting V1 subunit A; calcium voltage-gated channel auxiliary subunit alpha2delta 1; dehydrodolichyl diphosphate synthase subunit; NUS1 dehydrodolichyl diphosphate synthase subunit; SZT2 subunit of KICSTOR complex; prolyl-tRNA synthetase 2, mitochondrial; F-box protein 28; sodium voltage-gated channel alpha subunit 1; sodium voltage-gated channel alpha subunit 3; synaptojanin 1; cytoplasmic FMR1 interacting protein 2; alanyl-tRNA synthetase 1; solute carrier family 13 member 5; CUGBP Elav-like family member 2; DALR anticodon binding domain containing 3; trafficking kinesin protein 1; potassium voltage-gated channel subfamily B member 1; solute carrier family 1 member 2; calcium voltage-gated channel subunit alpha1 A; connector enhancer of kinase suppressor of Ras 2; clathrin heavy chain; ubiquitin like modifier activating enzyme 5; phosphofurin acidic cluster sorting protein 2; gamma-aminobutyric acid type A receptor subunit alpha2; adaptor related protein complex 3 subunit beta 2; sodium voltage-gated channel alpha subunit 8; calcium voltage-gated channel subunit alpha1 B; NECAP endocytosis associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Undetermined early-onset epileptic encephalopathy"	None
Acrodysostosis 1 with or without hormone resistance	acrdys1//acrodysostosis 1//acrodysostosis 1 with hormone resistance//acrodysostosis 1 without hormone resistance//acrodysostosis with hormone resistance//adohr	PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0015030	0015030	101800		C3276228		protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrodysostosis 1 with or without hormone resistance"	4
Globozoospermia	acrosome malformation of spermatozoa//azoospermia caused by mutation in spata16//round-headed spermatozoa//spata16 azoospermia//spermatogenic failure 6//spermatogenic failure type 6//spgf6	SPATA16	SPATA16	https://raresource.nih.gov/literature/disease/0015032	0015032	102530		C0403825		spermatogenesis associated 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Globozoospermia"	231
Alternating hemiplegia of childhood 1	ahc1//alternating hemiplegia of childhood caused by mutation in atp1a2//alternating hemiplegia of childhood type 1//atp1a2 alternating hemiplegia of childhood	ATP1A2	ATP1A2	https://raresource.nih.gov/literature/disease/0015036	0015036	104290		C3549447		ATPase Na+/K+ transporting subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alternating hemiplegia of childhood 1"	1
Amelogenesis imperfecta - hypoplastic autosomal dominant - local	ai1b//amelogenesis imperfecta caused by mutation in enam//amelogenesis imperfecta type 1b//amelogenesis imperfecta type ib//amelogenesis imperfecta, type ib//autosomal dominant hypoplastic local amelogenesis imperfecta//enam amelogenesis imperfecta//enamel hypoplasia, hereditary localized//hereditary localised enamel hypoplasia//hereditary localized enamel hypoplasia	ENAM	ENAM	https://raresource.nih.gov/literature/disease/0015037	0015037	104500		C0399368	C562879	enamelin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta - hypoplastic autosomal dominant - local"	None
Amelogenesis imperfecta type 1A	ai1a//amelogenesis imperfecta caused by mutation in lamb3//amelogenesis imperfecta hypoplastic type ia//amelogenesis imperfecta local hypoplastic//amelogenesis imperfecta type ia//amelogenesis imperfecta, hypoplastic type ia//amelogenesis imperfecta, type ia//lamb3 amelogenesis imperfecta	LAMB3	LAMB3	https://raresource.nih.gov/literature/disease/0015038	0015038	104530		C4011403	C538240	laminin subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1A"	2
Diamond-Blackfan anemia 1	anemia, congenital erythroid hypoplastic//anemia, congenital hypoplastic, of blackfan and diamond//aregenerative anemia, chronic congenital//blackfan-diamond syndrome//dba1//diamond-blackfan anaemia caused by mutation in rps19//diamond-blackfan anaemia type 1//diamond-blackfan anemia caused by mutation in rps19//diamond-blackfan anemia type 1//red cell aplasia, pure, hereditary//rps19 diamond-blackfan anaemia//rps19 diamond-blackfan anemia//rps19-related diamond-blackfan anemia	RPS19	RPS19	https://raresource.nih.gov/literature/disease/0015039	0015039			C2676137	C567302	ribosomal protein S19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 1"	18
Spermatogenic failure 2	aspermiogenesis factor//spgf2	MSH4	MSH4	https://raresource.nih.gov/literature/disease/0015041	0015041	108420		C1862459		mutS homolog 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 2"	None
Cataract 1 multiple types	cataract (disease) caused by mutation in gja8//cataract 1 with microcornea//cataract 1, multiple types, with or without microcornea//cataract 1, nuclear progressive//cataract 1, posterior subcapsular, with microcornea//cataract 1, stellate nuclear, with microcornea//cataract, duffy-linked//ctrct1//duffy linked cataract//gja8 cataract (disease)	GJA8	GJA8	https://raresource.nih.gov/literature/disease/0015047	0015047	116200		C1861828	C566158	gap junction protein alpha 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 1 multiple types"	None
Klippel-Feil syndrome 1, autosomal dominant	cervical vertebral fusion, autosomal dominant//gdf6 isolated klippel-feil syndrome//isolated klippel-feil syndrome caused by mutation in gdf6//kfs1	GDF6	GDF6	https://raresource.nih.gov/literature/disease/0015049	0015049	118100		C1861689	C536887	growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Klippel-Feil syndrome 1, autosomal dominant"	None
Familial cold autoinflammatory syndrome 1	cryopyrin-associated periodic syndrome 1//familial cold autoinflammatory syndrome caused by mutation in nlrp3//familial cold autoinflammatory syndrome type 1//familial cold inflammatory syndrome 1//fcas1//nlrp3 familial cold autoinflammatory syndrome	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0015051	0015051	120100		C4551895		NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cold autoinflammatory syndrome 1"	None
Lynch syndrome 1	colon cancer, familial nonpolyposis, type 1//colorectal cancer, hereditary, nonpolyposis, type 1//familial non-polyposis colon cancer type 1//hereditary non-polyposis colon cancer type 1//hereditary non-polyposis colorectal cancer, type 1//hereditary nonpolyposis colorectal cancer type 1//hnpcc1//lynch 1 syndrome//lynch syndrome i//lynch syndrome type 1//msh2-related hereditary non-polyposis colon cancer//msh2-related lynch syndrome	MSH2	MSH2	https://raresource.nih.gov/literature/disease/0015052	0015052	120435		C2936783	C537261	mutS homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lynch syndrome 1"	None
Seizures, benign familial neonatal, 2	benign neonatal epilepsy 2//benign neonatal seizures caused by mutation in kcnq3//convulsions, benign familial neonatal, 2//kcnq3 benign neonatal seizures//kcnq3-related benign familial neonatal epilepsy//seizures, benign familial neonatal, type 2//seizures, benign neonatal, 2	KCNQ3	KCNQ3	https://raresource.nih.gov/literature/disease/0015054	0015054	121201		C1852581		potassium voltage-gated channel subfamily Q member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures, benign familial neonatal, 2"	None
Cutis laxa, autosomal dominant 1	adcl1//autosomal dominant cutis laxa caused by mutation in eln//cutis laxa, autosomal dominant type 1//eln autosomal dominant cutis laxa//eln-related cutis laxa	ELN	ELN	https://raresource.nih.gov/literature/disease/0015055	0015055	123700		C3276539		elastin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal dominant 1"	None
Mitochondrial complex III deficiency nuclear type 1	bcs1l mitochondrial complex iii deficiency//mitochondrial complex iii deficiency caused by mutation in bcs1l//mitochondrial respiratory chain complex iii deficiency, bcs1l-related//mitochondrial respiratory chain complex iii, cytochrome b subunit	BCS1L	BCS1L	https://raresource.nih.gov/literature/disease/0015056	0015056	124000		C3541471	C565128	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 1"	None
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	adoa (autosomal dominant optic atrophy) plus//optic atrophy plus syndrome	OPA1	OPA1	https://raresource.nih.gov/literature/disease/0015057	0015057	125250		C3276549		OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	5
Diabetes insipidus, nephrogenic, autosomal	diabetes insipidus, nephrogenic, 2//diabetes insipidus, nephrogenic, 2, autosomal//ndi2//nephrogenic diabetes insipidus, type ii	AQP2	AQP2	https://raresource.nih.gov/literature/disease/0015058	0015058	125800		C1563706		aquaporin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes insipidus, nephrogenic, autosomal"	None
Basal laminar drusen	cuticular drusen//drusen of bruch membrane//drusen, cuticular//drusen, early adult-onset, grouped//early adult-onset grouped drusen	CFH	CFH	https://raresource.nih.gov/literature/disease/0015060	0015060	126700		C0730295	C563034	complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal laminar drusen"	79
Ectopia lentis 1, isolated, autosomal dominant	ectol1//ectopia lentis, familial//ectopia lentis, isolated//fbn1 isolated ectopia lentis//isolated ectopia lentis caused by mutation in fbn1	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0015062	0015062	129600		C3541518		fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectopia lentis 1, isolated, autosomal dominant"	None
Elliptocytosis 2	el2//elliptocytosis type 2//elliptocytosis, rhesus-unlinked type//hereditary elliptocytosis caused by mutation in spta1//spta1 hereditary elliptocytosis	SPTA1	SPTA1	https://raresource.nih.gov/literature/disease/0015064	0015064	130600		C1851741	C565058	spectrin alpha, erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Elliptocytosis 2"	5
Exudative vitreoretinopathy 1	evr1//exudative vitreoretinopathy type 1//familial exudative vitreoretinopathy, autosomal dominant//fevr, autosomal dominant//fzd4-related familial exudative vitreoretinopathy, autosomal dominant	LRP5;FZD4	LRP5;FZD4	https://raresource.nih.gov/literature/disease/0015068	0015068	133780		C1851402	C536382	LDL receptor related protein 5; frizzled class receptor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exudative vitreoretinopathy 1"	1
Familial Mediterranean fever, autosomal dominant	dominant familial mediterranean fever//familial mediterranean fever, ad//fmf, autosomal dominant	MEFV	MEFV	https://raresource.nih.gov/literature/disease/0015069	0015069	134610		C1851347	C565021	MEFV innate immunity regulator, pyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial Mediterranean fever, autosomal dominant"	None
Zimmermann-Laband syndrome 1	fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly//kcnh1 zimmermann-laband syndrome//zimmermann-laband syndrome caused by mutation in kcnh1//zls1	KCNH1	KCNH1	https://raresource.nih.gov/literature/disease/0015071	0015071	135500		C4551773		potassium voltage-gated channel subfamily H member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zimmermann-Laband syndrome 1"	2
Coffin-Siris syndrome 1	arid1b-related bafopathy//arid1b-related coffin-siris syndrome//autosomal dominant mental retardation 12//css1//hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features//hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features//intellectual disability, autosomal dominant 12//mental retardation, autosomal dominant 12//mental retardation, autosomal dominant type 12//mrd12	ARID1B	ARID1B	https://raresource.nih.gov/literature/disease/0015072	0015072	135900		C3281201	C538391	AT-rich interaction domain 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 1"	5
Hyperlipidemia, familial combined, LPL related	combined hyperlipidemia, familial//familial combined hyperlipidemia//familial multiple lipoprotein-type hyperlipidemia//fchl3//hyperapobetalipoproteinemia	LPL	LPL	https://raresource.nih.gov/literature/disease/0015077	0015077	144250		C0020474	D006950	lipoprotein lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperlipidemia, familial combined, LPL related"	633
Hypotrichosis 4	hypotrichosis type 4//hypotrichosis, marie unna type, 1//hypt4//marie unna hereditary hypotrichosis 1//muhh1	HRURF	HRURF	https://raresource.nih.gov/literature/disease/0015078	0015078	146550		C2750815	C567718	HR upstream open reading frame	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 4"	2
Cholestasis, intrahepatic, of pregnancy, 1	cholestasis, intrahepatic, of pregnancy, type 1//cholestasis, pregnancy-related, 1//icp1	ATP8B1	ATP8B1	https://raresource.nih.gov/literature/disease/0015079	0015079	147480		C3549845		ATPase phospholipid transporting 8B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, intrahepatic, of pregnancy, 1"	None
Palmoplantar keratoderma, punctate type 1A	aagab punctate palmoplantar keratoderma//keratoderma, palmoplantar, punctate type ia//palmoplantar keratoderma, punctate type ia//ppkp1a//punctate palmoplantar keratoderma caused by mutation in aagab	AAGAB	AAGAB	https://raresource.nih.gov/literature/disease/0015081	0015081			CN031225		alpha and gamma adaptin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma, punctate type 1A"	None
Bernard-Soulier syndrome, type A2, autosomal dominant	bernard-soulier syndrome, type a2 (dominant)//bssa2	GP1BA	GP1BA	https://raresource.nih.gov/literature/disease/0015082	0015082	153670		C3277076		glycoprotein Ib platelet subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bernard-Soulier syndrome, type A2, autosomal dominant"	None
Mirror movements 1	dcc familial congenital mirror movements//familial congenital mirror movements caused by mutation in dcc//mirror movements type 1//mrmv1	DCC	DCC	https://raresource.nih.gov/literature/disease/0015086	0015086	157600		C1834870		DCC netrin 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mirror movements 1"	1
Facioscapulohumeral muscular dystrophy 1	facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles//facioscapulohumeral muscular dystrophy 1a//facioscapulohumeral muscular dystrophy type 1//fshd//fshd1//fshd1a//fshmd1a//muscular dystrophy, facioscapulohumeral, type 1a	FRG1	FRG1	https://raresource.nih.gov/literature/disease/0015087	0015087	158900		C5399970	C536391	FSHD region gene 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facioscapulohumeral muscular dystrophy 1"	1310
Facioscapulohumeral muscular dystrophy 2	facioscapulohumeral muscular dystrophy 2, digenic//facioscapulohumeral muscular dystrophy caused by mutation in smchd1//facioscapulohumeral muscular dystrophy type 2//fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant//fshd2//fshd2, digenic//muscular dystrophy, facioscapulohumeral, type 1b//smchd1 facioscapulohumeral muscular dystrophy	SMCHD1	SMCHD1	https://raresource.nih.gov/literature/disease/0015088	0015088	158901		C1834671	C563557	structural maintenance of chromosomes flexible hinge domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facioscapulohumeral muscular dystrophy 2"	67
Carney complex, type 1	carney complex caused by mutation in prkar1a//carney complex, type i//carney myxoma-endocrine complex//cnc1//prkar1a carney complex	PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0015090	0015090	160980		C2607929		protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carney complex, type 1"	7
Narcolepsy 1	hcrt narcolepsy//narcolepsy caused by mutation in hcrt//narcolepsy risk factor//narcoleptic syndrome 1//nrclp1	HCRT	HCRT	https://raresource.nih.gov/literature/disease/0015091	0015091	161400		C1834372	C563534	hypocretin neuropeptide precursor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Narcolepsy 1"	None
Candidiasis, familial, 6	candf6//candidiasis, familial, 6, autosomal dominant//candidiasis, familial, type 6//familial chronic mucocutaneous candidiasis caused by mutation in il17f//il17f familial chronic mucocutaneous candidiasis	IL17F	IL17F	https://raresource.nih.gov/literature/disease/0015093	0015093	613956		C3151405		interleukin 17F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Candidiasis, familial, 6"	None
Neuropathy, hereditary sensory and autonomic, type 1A	hereditary sensory and autonomic neuropathy type 1 caused by mutation in sptlc1//hereditary sensory and autonomic neuropathy type ia//hereditary sensory autonomic neuropathy type ia//hereditary sensory neuropathy type ia//hsan ia//hsan1a//hsn ia//neuropathy, hereditary sensory and autonomic, type ia//neuropathy, hereditary sensory radicular, autosomal dominant, type 1a//sptlc1 hereditary sensory and autonomic neuropathy type 1	SPTLC1	SPTLC1	https://raresource.nih.gov/literature/disease/0015095	0015095	162400		C5235211		serine palmitoyltransferase long chain base subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory and autonomic, type 1A"	4
Congenital stationary night blindness autosomal dominant 2	congenital stationary night blindness autosomal dominant type 2//congenital stationary night blindness caused by mutation in pde6b//csnbad2//night blindness, congenital stationary, autosomal dominant type 2//night blindness, congenital stationary, rambusch type//pde6b congenital stationary night blindness//rambusch type congenital stationary night blindness	PDE6B	PDE6B	https://raresource.nih.gov/literature/disease/0015096	0015096	163500		C1876182	C566869	phosphodiesterase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness autosomal dominant 2"	None
Oculopharyngodistal myopathy 1	opdm1	LRP12	LRP12	https://raresource.nih.gov/literature/disease/0015097	0015097	164310		C5231388		LDL receptor related protein 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngodistal myopathy 1"	2
Hypertrophic osteoarthropathy, primary, autosomal dominant	pachydermoperiostosis, autosomal dominant//pdp, autosomal dominant//pho, autosomal dominant//phoad	SLCO2A1	SLCO2A1	https://raresource.nih.gov/literature/disease/0015101	0015101	167100		C2674695		solute carrier organic anion transporter family member 2A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic osteoarthropathy, primary, autosomal dominant"	1
Pachyonychia congenita 1	jadassohn lewandowsky syndrome//krt16 pachyonychia congenita//krt16-related pachyonychia congenita//krt6a-related pachyonychia congenita//pachyonychia congenita caused by mutation in krt16//pachyonychia congenita type 1//pachyonychia congenita, late onset//pc1	KRT16	KRT16	https://raresource.nih.gov/literature/disease/0015102	0015102	167200		C1706595		keratin 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachyonychia congenita 1"	40
Pachyonychia congenita 2	jackson-lawler syndrome//krt17 pachyonychia congenita//krt17-related pachyonychia congenita//krt6b-related pachyonychia congenita//pachyonychia congenita caused by mutation in krt17//pachyonychia congenita type 2//pachyonychia congenita, jackson-lawler type//pc-k17//pc2	KRT17	KRT17	https://raresource.nih.gov/literature/disease/0015103	0015103	167210		C1721007		keratin 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachyonychia congenita 2"	36
Pheochromocytoma	chromaffin tumors//chromaffin tumours//phaeochromocytoma	KIF1B;MAX;RET;VHL;TMEM127	KIF1B;MAX;RET;VHL;TMEM127	https://raresource.nih.gov/literature/disease/0015105	0015105	171300		C0031511	D010673	kinesin family member 1B; MYC associated factor X; ret proto-oncogene; von Hippel-Lindau tumor suppressor; transmembrane protein 127	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pheochromocytoma"	17722
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	gastrointestinal stromal tumor/gist-plus syndrome, somatic or familial	PDGFRA	PDGFRA	https://raresource.nih.gov/literature/disease/0015106	0015106	175510		C5193005	C566774	platelet derived growth factor receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"	None
Brain small vessel disease 1 with or without ocular anomalies	adt1p//autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy//brain small vessel disease with axenfeld-riegar anomaly//brain small vessel disease with axenfeld-rieger anomaly//brain small vessel disease with haemorrhage//brain small vessel disease with hemorrhage//brain small vessel disease with or without ocular anomalies//bsvd//bsvd1//col4a1 porencephaly//col4a1-related brain small vessel disease with haemorrhage//col4a1-related brain small vessel disease with hemorrhage//col4a1-related familial vascular leukoencephalopathy//col4a1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome//hemiplegia, infantile, with porencephaly//infantile hemiparesis//leukoencephalopathy with axenfeld-rieger anomaly//porencephaly 1//porencephaly caused by mutation in col4a1//porencephaly type 1//porencephaly, type 1, autosomal dominant//retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant//t1p	COL4A1	COL4A1	https://raresource.nih.gov/literature/disease/0015107	0015107	175780	36383	C4551998	C531642;C564372	collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain small vessel disease 1 with or without ocular anomalies"	17
Porokeratosis 1, Mibelli type	porok1//porokeratosis 1, multiple types	PMVK	PMVK	https://raresource.nih.gov/literature/disease/0015108	0015108			CN297066		phosphomevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 1, Mibelli type"	None
Retinitis pigmentosa 10	impdh1 retinitis pigmentosa//retinitis pigmentosa caused by mutation in impdh1//retinitis pigmentosa type 10//rp10	IMPDH1	IMPDH1	https://raresource.nih.gov/literature/disease/0015110	0015110	180105		C1867299	C566715	inosine monophosphate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 10"	7
Symphalangism-brachydactyly syndrome	deafness-symphalangism syndrome of herrmann//facioaudiosymphalangism syndrome//multiple synostoses syndrome 1//multiple synostoses syndrome caused by mutation in nog//multiple synostoses syndrome type 1//nog multiple synostoses syndrome//syns1	NOG	NOG	https://raresource.nih.gov/literature/disease/0015115	0015115	186500		C0342282		noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symphalangism-brachydactyly syndrome"	13
Platelet-type bleeding disorder 17	bdplt17//bleeding disorder, platelet-type 17//gfi1b inherited bleeding disorder, platelet-type//hereditary thrombasthenia-thrombocytopenia//inherited bleeding disorder, platelet-type caused by mutation in gfi1b//thrombasthenia-thrombocytopenia, hereditary	GFI1B	GFI1B	https://raresource.nih.gov/literature/disease/0015117	0015117	187900		C1861194	C566060	growth factor independent 1B transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 17"	None
Tuberous sclerosis 1	tsc1//tsc1 tuberous sclerosis//tsc1-related tuberous sclerosis//tuberous sclerosis caused by mutation in tsc1//tuberous sclerosis type 1	TSC1	TSC1	https://raresource.nih.gov/literature/disease/0015121	0015121	191100		C1854465	C565346	TSC complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tuberous sclerosis 1"	27
Uncombable hair syndrome 1	uhs1	PADI3	PADI3	https://raresource.nih.gov/literature/disease/0015122	0015122	191480		C4551573		peptidyl arginine deiminase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uncombable hair syndrome 1"	None
Velocardiofacial syndrome	22q11 deletion syndrome//deletion 22q11.2 syndrome//shprintzen vcf syndrome//vcf syndrome//vcf-velocardiofacial syndrome//vcfs	TBX1	TBX1	https://raresource.nih.gov/literature/disease/0015123	0015123	192430		C0220704		T-box transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Velocardiofacial syndrome"	1411
Wilms tumor 1	wilms tumor type 1//wilms tumor, autosomal dominant, somatic mutation//wilms tumor, somatic//wilms tumor, type 1, autosomal dominant, somatic mutation//wilms tumour type 1//wt1//wt1-related wilms tumor predisposition	H19;WT1;IGF2;GPC3;GPC4;BRCA2	H19;WT1;IGF2;GPC3;GPC4;BRCA2	https://raresource.nih.gov/literature/disease/0015124	0015124	194070		CN033288		H19 imprinted maternally expressed transcript; WT1 transcription factor; insulin like growth factor 2; glypican 3; glypican 4; BRCA2 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilms tumor 1"	22
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema//dehydrated hereditary stomatocytosis and pseudohyperkalemia//dehydrated hereditary stomatocytosis with pseudohyperkalemia and perinatal edema//dhs1//pseudohyperkalemia edinburgh//pseudohyperkalemia, familial, 1, due to red cell leak	PIEZO1	PIEZO1	https://raresource.nih.gov/literature/disease/0015126	0015126	194380		C4551512		piezo type mechanosensitive ion channel component 1 (Er blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	1
RAB23-related Carpenter syndrome	acps ii//carpenter syndrome 1//carpenter syndrome caused by mutation in rab23//carpenter syndrome type 1//rab23 carpenter syndrome	RAB23	RAB23	https://raresource.nih.gov/literature/disease/0015128	0015128	201000		C4551510		RAB23, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RAB23-related Carpenter syndrome"	1
Neuropathy, hereditary sensory and autonomic, type 2A	acroosteolysis, giaccai type//acroosteolysis, neurogenic//hereditary sensory and autonomic neuropathy type iia//hereditary sensory autonomic neuropathy type iia//hsan 2a//hsan iia//hsan2a//hsn 2a//neuropathy, hereditary sensory and autonomic, type ii//neuropathy, hereditary sensory and autonomic, type iia//neuropathy, hereditary sensory radicular, autosomal recessive//neuropathy, hereditary sensory, type 2a//neuropathy, hereditary sensory, type iia	WNK1	WNK1	https://raresource.nih.gov/literature/disease/0015129	0015129	201300		C2752089		WNK lysine deficient protein kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory and autonomic, type 2A"	4
Adrenocortical carcinoma, hereditary	adcc//hereditary adrenal cortex carcinoma	TP53	TP53	https://raresource.nih.gov/literature/disease/0015132	0015132	202300		C1859972	C565972	tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adrenocortical carcinoma, hereditary"	317
Peroxisome biogenesis disorder 2B	pbd2b//peroxisome biogenesis disorder type 2b	PEX5	PEX5	https://raresource.nih.gov/literature/disease/0015134	0015134	202370		C3550234		peroxisomal biogenesis factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 2B"	None
Amelogenesis imperfecta type 1C	ai1c//amelogenesis imperfecta type ic//amelogenesis imperfecta, local hypoplastic type, autosomal recessive//autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion//autosomal recessive amelogenesis imperfecta local hypoplastic type	ENAM	ENAM	https://raresource.nih.gov/literature/disease/0015136	0015136	204650		C2673923	C567147	enamelin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1C"	None
Amyotrophic lateral sclerosis type 2, juvenile	als, juvenile//als2//als2 amyotrophic lateral sclerosis//amyotrophic lateral sclerosis 2//amyotrophic lateral sclerosis 2, juvenile//amyotrophic lateral sclerosis caused by mutation in als2//amyotrophic lateral sclerosis type 2//jals (juvenile amyotrophic lateral sclerosis) type 2//juvenile amyotrophic lateral sclerosis due to als2 gene mutation//juvenile amyotrophic lateral sclerosis type 2	ALS2	ALS2	https://raresource.nih.gov/literature/disease/0015137	0015137	205100		C1859807	C565957	alsin Rho guanine nucleotide exchange factor ALS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 2, juvenile"	41
Arthrogryposis, renal dysfunction, and cholestasis 1	arcs1//arthrogryposis, renal dysfunction, and cholestasis type 1//arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in vps33b//vps33b arthrogryposis-renal dysfunction-cholestasis syndrome//vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome	VPS33B	VPS33B	https://raresource.nih.gov/literature/disease/0015139	0015139	208085		C1859722		VPS33B late endosome and lysosome associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, renal dysfunction, and cholestasis 1"	2
Seckel syndrome 1	atr seckel syndrome//microcephalic primordial dwarfism i//sckl1//seckel syndrome 3//seckel syndrome caused by mutation in atr//seckel syndrome type 1	ATR	ATR	https://raresource.nih.gov/literature/disease/0015143	0015143	210600		C4551474		ATR checkpoint kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 1"	12
Osteodysplastic primordial dwarfism, type 1	brachymelic primordial dwarfism//cephaloskeletal dysplasia//low-birth-weight dwarfism with skeletal dysplasia//microcephalic osteodysplastic primordial dwarfism type i//microcephalic osteodysplastic primordial dwarfism type i/iii//microcephalic osteodysplastic primordial dwarfism, caroline crachami type//microcephalic osteodysplastic primordial dwarfism, sicilian fairy type//microcephalic osteodysplastic primordial dwarfism, type 1//microcephalic osteodysplastic primordial dwarfism, type i//microcephalic osteodysplastic primordial dwarfism, type iii//mopd 1//mopd i//mopd i/iii//mopd iii//mopd, caroline crachami type//mopd, sicilian fairy type//mopd1//osteodysplastic primordial dwarfism type i//osteodysplastic primordial dwarfism, type iii	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0015144	0015144	210710		C1859452		RNA, U4atac small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteodysplastic primordial dwarfism, type 1"	36
Tumoral calcinosis, hyperphosphatemic, familial, 1	calcinosis, tumoral, with hyperphosphatemia//cortical hyperostosis with hyperphosphatemia//hftc1//hyperostosis with hyperphosphatemia//hyperostosis-hyperphosphatemia syndrome//lipocalcinogranulomatosis//morbus teutschlaender//teutschlaender disease, familial//tumoral calcinosis, hyperphosphatemic, familial//tumoral calcinosis, primary hyperphosphatemic	GALNT3	GALNT3	https://raresource.nih.gov/literature/disease/0015146	0015146			C4692564		polypeptide N-acetylgalactosaminyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tumoral calcinosis, hyperphosphatemic, familial, 1"	31
Peroxisome biogenesis disorder 2A (Zellweger)	cerebrohepatorenal syndrome, variant types//pbd2a	PEX5	PEX5	https://raresource.nih.gov/literature/disease/0015149	0015149	214110		C3550273		peroxisomal biogenesis factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 2A (Zellweger)"	None
Cerebrooculofacioskeletal syndrome 1	cerebrooculofacioskeletal syndrome type 1//cofs syndrome caused by mutation in ercc6//cofs1//ercc6 cofs syndrome	ERCC6	ERCC6	https://raresource.nih.gov/literature/disease/0015150	0015150	214150		C0220722		ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrooculofacioskeletal syndrome 1"	None
Klippel-Feil syndrome 2, autosomal recessive	cervical vertebral fusion, autosomal recessive//isolated klippel-feil syndrome caused by mutation in meox1//kfs, autosomal recessive//kfs2//klippel feil syndrome autosomal recessive//klippel-feil syndrome 2//meox1 isolated klippel-feil syndrome	MEOX1	MEOX1	https://raresource.nih.gov/literature/disease/0015151	0015151	214300		C1859209	C536888	mesenchyme homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Klippel-Feil syndrome 2, autosomal recessive"	1
Chorea	benign familial chorea//bhc//choreatic disease//choreic movement//choreic movements//choreiform disorder//choreiform movement//choreiform movements	NKX2-1;ADCY5	NKX2-1;ADCY5	https://raresource.nih.gov/literature/disease/0015152	0015152		1429	C0008489	D002819	NK2 homeobox 1; adenylate cyclase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chorea"	3921
COACH syndrome 1		TMEM67	TMEM67	https://raresource.nih.gov/literature/disease/0015153	0015153	216360		C5435651		transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COACH syndrome 1"	None
Cutis laxa, autosomal recessive, type 1A	arcl1a//autosomal recessive cutis laxa type ia	FBLN5	FBLN5	https://raresource.nih.gov/literature/disease/0015157	0015157	219100		C5848058	C562628	fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal recessive, type 1A"	2
Mitochondrial complex IV deficiency, nuclear type 1	complex 4 mitochondrial respiratory chain deficiency//complex iv deficiency//cox deficiency//deficiency of mitochondrial respiratory chain complex4//hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency//mitochondrial respiratory chain complex iv deficiency//mitochondrial respiratory chain complex iv deficiency (nuclear genes)	SURF1	SURF1	https://raresource.nih.gov/literature/disease/0015158	0015158	220110		C5435656		SURF1 cytochrome c oxidase assembly factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 1"	284
Ritscher-Schinzel syndrome 1	ritscher-schinzel syndrome caused by mutation in washc5//ritscher-schinzel syndrome type 1//rtsc1//washc5 ritscher-schinzel syndrome	WASHC5	WASHC5	https://raresource.nih.gov/literature/disease/0015160	0015160	220210		C4551776		WASH complex subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ritscher-Schinzel syndrome 1"	None
Meier-Gorlin syndrome 1	meier-gorlin syndrome caused by mutation in orc1//meier-gorlin syndrome type 1//mgors1//orc1 meier-gorlin syndrome	ORC1	ORC1	https://raresource.nih.gov/literature/disease/0015162	0015162	224690		C4552001		origin recognition complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 1"	None
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal//ectodermal dysplasia, hypohidrotic, autosomal recessive	EDAR	EDAR	https://raresource.nih.gov/literature/disease/0015163	0015163	224900		C3887494		ectodysplasin A receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"	None
Ectopia lentis et pupillae	ectopia lentis with ectopia of pupil	ADAMTSL4	ADAMTSL4	https://raresource.nih.gov/literature/disease/0015164	0015164	225200		C1644196	C563268	ADAMTS like 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectopia lentis et pupillae"	34
Hypothyroidism, congenital, nongoitrous, 5	chng5//hypothyroidism, congenital, nongoitrous caused by mutation in nkx2-5//hypothyroidism, congenital, nongoitrous, type 5//nkx2-5 hypothyroidism, congenital, nongoitrous	NKX2-5	NKX2-5	https://raresource.nih.gov/literature/disease/0015165	0015165	225250		C2673630	C567123	NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism, congenital, nongoitrous, 5"	None
Split hand-foot malformation 6	ectrodactyly, autosomal recessive//shfm6//split hand-foot malformation caused by mutation in wnt10b//split hand-foot malformation type 6//split-hand/foot malformation type 6//wnt10b split hand-foot malformation	WNT10B	WNT10B	https://raresource.nih.gov/literature/disease/0015166	0015166	225300		C2749665	C567616	Wnt family member 10B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Split hand-foot malformation 6"	2
Aicardi-Goutieres syndrome 1	aicardi-goutieres syndrome 1, dominant and recessive//aicardi-goutieres syndrome caused by mutation in trex1//aicardi-goutieres syndrome type 1//encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis//pseudotoxoplasmosis syndrome//trex1 aicardi-goutieres syndrome	TREX1	TREX1	https://raresource.nih.gov/literature/disease/0015167	0015167	225750		C0796126		three prime repair exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 1"	1
Fanconi anemia complementation group C	fa3//facc//fancc//fanconi anaemia complementation group type c//fanconi anemia complementation group type c//fanconi anemia of complementation group c//fanconi anemia, complementation group type c//fanconi anemia, group c//fanconi pancytopenia type 3//fanconi pancytopenia, type 3//fanconi's anemia type c	FANCC	FANCC	https://raresource.nih.gov/literature/disease/0015168	0015168	227645		C3468041		FA complementation group C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group C"	37
Fanconi anemia complementation group D2	fa4//fad2//fancd2//fancd2-related fanconi anemia//fanconi anemia, complementation group d//fanconi pancytopenia type 4//fanconi pancytopenia, type 4	FANCD2	FANCD2	https://raresource.nih.gov/literature/disease/0015169	0015169	227646		C3160738		FA complementation group D2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group D2"	11
Fanconi anemia complementation group A	fanca//fanca fanconi anaemia//fanca fanconi anemia//fanconi anaemia caused by mutation in fanca//fanconi anaemia complementation group type a//fanconi anemia caused by mutation in fanca//fanconi anemia complementation group type a//fanconi anemia, complementation group type a//fanconi anemia, group a	FANCG;FANCC;FANCE;FANCF;FANCA;FANCB	FANCG;FANCC;FANCE;FANCF;FANCA;FANCB	https://raresource.nih.gov/literature/disease/0015170	0015170			C3469521		FA complementation group G; FA complementation group C; FA complementation group E; FA complementation group F; FA complementation group A; FA complementation group B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group A"	19
Geleophysic dysplasia 1	adamtsl2 geleophysic dysplasia//geleophysic dysplasia caused by mutation in adamtsl2//geleophysic dysplasia type 1//gphysd1	ADAMTSL2	ADAMTSL2	https://raresource.nih.gov/literature/disease/0015172	0015172	231050		C3278147		ADAMTS like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geleophysic dysplasia 1"	6
46,XY sex reversal 7	46,xy gonadal dysgenesis, partial or complete, dhh-related//46,xy sex reversal type 7//46,xy sex reversal, partial or complete, dhh-related//dhh-related 46,xy complete gonadal dysgenesis//gonadal dysgenesis, xy, male-limited	DHH	DHH	https://raresource.nih.gov/literature/disease/0015174	0015174	233420		C1856273	C565537	desert hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 7"	None
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	cgd due to deficiency of the alpha subunit of cytochrome b//cgd, autosomal recessive cytochrome b-negative//chronic granulomatous disease 4, autosomal recessive//chronic granulomatous disease, autosomal, due to deficiency of cyba//cyba deficiency//granulomatous disease, chronic, autosomal recessive, 4	CYBA	CYBA	https://raresource.nih.gov/literature/disease/0015175	0015175	233690		C1856255	C565533	cytochrome b-245 alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"	1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	cgd, autosomal recessive cytochrome b-positive, type i//chronic granulomatous disease 1, autosomal recessive//chronic granulomatous disease caused by mutation in ncf1//chronic granulomatous disease due to deficiency of ncf-1//granulomatous disease, chronic, due to ncf1 deficiency//ncf1 chronic granulomatous disease	NCF1	NCF1	https://raresource.nih.gov/literature/disease/0015176	0015176	233700		C1856251	C565532	neutrophil cytosolic factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1"	None
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	cgd, autosomal recessive cytochrome b-positive, type ii//chronic granulomatous disease 2, autosomal recessive//chronic granulomatous disease caused by mutation in ncf2//chronic granulomatous disease due to deficiency of ncf-2//granulomatous disease, chronic, autosomal recessive, 2//granulomatous disease, chronic, due to ncf2 deficiency//ncf2 chronic granulomatous disease	NCF2	NCF2	https://raresource.nih.gov/literature/disease/0015177	0015177	233710		C1856245	C565531	neutrophil cytosolic factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2"	None
Hennekam lymphangiectasia-lymphedema syndrome 1	ccbe1 hennekam syndrome//hennekam lymphangiectasia-lymphedema syndrome type 1//hennekam syndrome caused by mutation in ccbe1//hklls1//lymphatic dysplasia, generalized	CCBE1	CCBE1	https://raresource.nih.gov/literature/disease/0015181	0015181	235510		C4012050		collagen and calcium binding EGF domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hennekam lymphangiectasia-lymphedema syndrome 1"	2
Hydrolethalus syndrome 1	hls1//hydrolethalus syndrome caused by mutation in hyls1//hydrolethalus syndrome type 1//hyls1 hydrolethalus syndrome	HYLS1	HYLS1	https://raresource.nih.gov/literature/disease/0015182	0015182	236680		C1856016	C565504	HYLS1 centriolar and ciliogenesis associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrolethalus syndrome 1"	1
Immunodeficiency, common variable, 2	antibody deficiency due to taci defect//cvid2//hypogammaglobulinemia due to taci deficiency//immunodeficiency, common variable, type 2	TNFRSF13B	TNFRSF13B	https://raresource.nih.gov/literature/disease/0015184	0015184	240500		C3150354		TNF receptor superfamily member 13B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 2"	None
Hypoproteinemia, hypercatabolic	b2m deficiency//beta-2-microglobulin deficiency//imd43//immunodeficiency 43//mhc class i deficiency 4	B2M	B2M	https://raresource.nih.gov/literature/disease/0015185	0015185	241600		C1855796	C565476	beta-2-microglobulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoproteinemia, hypercatabolic"	4
Autosomal recessive congenital ichthyosis 2	arci2//autosomal recessive congenital ichthyosis type 2//brocq congenital ichthyosiform erythroderma nonbullous form//ichthyosis, congenital, autosomal recessive type 2//ncie1//nonbullous congenital ichthyosiform erythroderma 1	ALOX12B	ALOX12B	https://raresource.nih.gov/literature/disease/0015187	0015187	242100		C3888093		arachidonate 12-lipoxygenase, 12R type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 2"	1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1	dnmt3b immunodeficiency-centromeric instability-facial anomalies syndrome//icf syndrome 1//icf1//immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in dnmt3b//immunodeficiency-centromeric instability-facial anomalies syndrome type 1	DNMT3B	DNMT3B	https://raresource.nih.gov/literature/disease/0015188	0015188	242860		C4551557		DNA methyltransferase 3 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency-centromeric instability-facial anomalies syndrome 1"	6
Baraitser-Winter syndrome 1	actb baraitser-winter cerebrofrontofacial syndrome//actb-related bafopathy//baraitser-winter cerebrofrontofacial syndrome caused by mutation in actb//baraitser-winter syndrome 1, atypical//baraitser-winter syndrome type 1//brws1//cerebro-fronto-facial syndrome//cerebrofrontofacial syndrome//mental retardation with epilepsy and characteristic facies//pachygyria, mental retardation, epilepsy, and characteristic facies	ACTB	ACTB	https://raresource.nih.gov/literature/disease/0015189	0015189	243310		C1855722		actin beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Baraitser-Winter syndrome 1"	8
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	berdon syndrome	MYLK	MYLK	https://raresource.nih.gov/literature/disease/0015195	0015195	249210	2241	C5542316	C536138	myosin light chain kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megacystis-microcolon-intestinal hypoperistalsis syndrome 1"	11
Methemoglobinemia type 4	cyb5a methemoglobinemia//methemoglobinemia caused by mutation in cyb5a//methemoglobinemia due to deficiency of cytochrome b5	CYB5A	CYB5A	https://raresource.nih.gov/literature/disease/0015196	0015196	250790		C4285231	C567102	cytochrome b5 type A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methemoglobinemia type 4"	None
Deficiency of cytochrome-b5 reductase	autosomal recessive congenital methemoglobinemia//chronic familial methemoglobin reductase deficiency//congenital methemoglobinemia due to nadh-cytochrome b5 reductase 3 deficiency//congenital nadh-methemoglobin reductase deficiency//cytochrome b5 reductase deficiency//methemoglobinemia due to deficiency of methemoglobin reductase//methemoglobinemia, congenital, autosomal recessive//methemoglobinemia, type i//methemoglobinemia, type ii//nadh-dependent methemoglobin reductase deficiency//nadh-methemoglobin reductase deficiency	CYB5R3	CYB5R3	https://raresource.nih.gov/literature/disease/0015197	0015197			C0268193		cytochrome b5 reductase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of cytochrome-b5 reductase"	54
Microcephaly 1, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in mcph1//mcph1 autosomal recessive primary microcephaly//pcc syndrome//premature chromosome condensation syndrome//premature chromosome condensation with microcephaly and mental retardation	MCPH1	MCPH1	https://raresource.nih.gov/literature/disease/0015198	0015198			C1855081	C565384	microcephalin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 1, primary, autosomal recessive"	7
Galloway-Mowat syndrome 1	gamos1	WDR73	WDR73	https://raresource.nih.gov/literature/disease/0015199	0015199	251300		C4551772		WD repeat domain 73	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 1"	2
Mitochondrial complex I deficiency, nuclear type 1	mc1dn1//mitochondrial nadh dehydrogenase component of complex i, deficiency of//nadh-coenzyme q reductase deficiency	NDUFS4	NDUFS4	https://raresource.nih.gov/literature/disease/0015201	0015201			CN257533		NADH:ubiquinone oxidoreductase subunit S4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 1"	5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a3//muscle-eye-brain-pomgnt1 related//walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related	POMGNT1	POMGNT1	https://raresource.nih.gov/literature/disease/0015204	0015204	253280		C3151519		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"	None
Congenital myasthenic syndrome 10	agrn-related congenital myasthenic syndrome//cms10//congenital muscular dystrophy merosin-positive//congenital myasthenic syndrome caused by mutation in dok7//congenital myasthenic syndrome type 10//dok7 congenital myasthenic syndrome//dok7-related congenital myasthenic syndrome//familial limb-girdle myasthenia//lgm//myasthenia, limb-girdle, familial//myasthenic syndrome, congenital, type 10	DOK7	DOK7	https://raresource.nih.gov/literature/disease/0015206	0015206	254300		C1850792	C563716	docking protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 10"	51
Myopathy, myosin storage, autosomal recessive	autosomal recessive myosin storage myopathy//cmyo7b//congenital myopathy 7b, myosin storage, autosomal recessive	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0015207	0015207	255160	636970	C1850709	C564970	myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, myosin storage, autosomal recessive"	None
Myopathy, centronuclear, 2	bin1 centronuclear myopathy//centronuclear myopathy 2//centronuclear myopathy caused by mutation in bin1//cnm2//myopathy, centronuclear, type 2//myotubular myopathy, autosomal recessive	BIN1	BIN1	https://raresource.nih.gov/literature/disease/0015208	0015208	255200		C0410204	C562934	bridging integrator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, centronuclear, 2"	1
Nemaline myopathy 2	neb nemaline myopathy//nem2//nemaline myopathy 2, autosomal recessive//nemaline myopathy caused by mutation in neb//nemaline myopathy type 2	NEB	NEB	https://raresource.nih.gov/literature/disease/0015209	0015209	256030		C1850569	C538349	nebulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 2"	12
Nephrotic syndrome, type 4	congenital nephrotic syndrome - diffuse mesangial sclerosis//familial mesangial sclerosis//nephrotic syndrome caused by mutation in wt1//nephrotic syndrome, early onset with diffuse mesangial sclerosis//nphs4//wt1 nephrotic syndrome	WT1	WT1	https://raresource.nih.gov/literature/disease/0015210	0015210	256370		C3151568		WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 4"	3
Congenital stationary night blindness 1B	autosomal recessive complete congenital stationary night blindness//congenital stationary night blindness 1b autosomal recessive//congenital stationary night blindness caused by mutation in grm6//congenital stationary night blindness type 1b//csnb1b//grm6 congenital stationary night blindness//night blindness, congenital stationary (complete), 1b, autosomal recessive//night blindness, congenital stationary, complete, autosomal recessive	GRM6	GRM6	https://raresource.nih.gov/literature/disease/0015212	0015212	257270		C1850362		glutamate metabotropic receptor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1B"	8
Oculodentodigital dysplasia, autosomal recessive	autosomal recessive oculodentodigital dysplasia//oculodentoosseous dysplasia, autosomal recessive//oddd, autosomal recessive//odod, autosomal recessive	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0015213	0015213	257850		C2749477	C567605	gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculodentodigital dysplasia, autosomal recessive"	1
Oligosynaptic infertility	oligochiasmatic infertility//oligochiasmic infertility//spermatogenic failure 1//spgf1	SYCP2	SYCP2	https://raresource.nih.gov/literature/disease/0015214	0015214	258150		C0403810	C562902	synaptonemal complex protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oligosynaptic infertility"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	autosomal recessive progressive external ophthalmoplegia caused by mutation in polg//peob1//polg autosomal recessive progressive external ophthalmoplegia//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive type 1//progressive external ophthalmoplegia, autosomal recessive 1	POLG	POLG	https://raresource.nih.gov/literature/disease/0015215	0015215	258450		C4225153		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1"	None
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	hpgd primary hypertrophic osteoarthropathy//pho, autosomal recessive//phoar1//primary hypertrophic osteoarthropathy caused by mutation in hpgd//primary hypertrophic osteoarthropathy, autosomal recessive	HPGD	HPGD	https://raresource.nih.gov/literature/disease/0015216	0015216	259100		C4551679		15-hydroxyprostaglandin dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic osteoarthropathy, primary, autosomal recessive, 1"	6
Pancreatic agenesis 1	pagen1//pancreatic agenesis caused by mutation in pdx1//pancreatic hypoplasia, congenital//pdx1 pancreatic agenesis	PDX1	PDX1	https://raresource.nih.gov/literature/disease/0015220	0015220			C3891828		pancreatic and duodenal homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic agenesis 1"	None
Shwachman-Diamond syndrome 1	sbds-related shwachman diamond syndrome//sds1	SBDS	SBDS	https://raresource.nih.gov/literature/disease/0015221	0015221	260400		C4692625		SBDS ribosome maturation factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shwachman-Diamond syndrome 1"	None
Pituitary hormone deficiency, combined, 2	ateliotic dwarfism with hypogonadism//combined pituitary hormone deficiencies, genetic form caused by mutation in prop1//hanhart dwarfism//pituitary dwarfism iii//pituitary hormone deficiency, combined, type 2//prop1 combined pituitary hormone deficiencies, genetic form//prop1-related combined pituitary hormone deficiency	PROP1	PROP1	https://raresource.nih.gov/literature/disease/0015222	0015222	262600		C0878683	C563172	PROP paired-like homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary hormone deficiency, combined, 2"	1
Gillessen-Kaesbach-Nishimura syndrome	gikanis	ALG9	ALG9	https://raresource.nih.gov/literature/disease/0015223	0015223	263210		C1849762	C564881	ALG9 alpha-1,2-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gillessen-Kaesbach-Nishimura syndrome"	2
Short-rib thoracic dysplasia 6 with or without polydactyly	majewski syndrome//majewski-type short rib polydactyly syndrome//polydactyly with neonatal chondrodystrophy type ii//polydactyly with neonatal chondrodystrophy, type ii//short rib-polydactyly syndrome type ii//short rib-polydactyly syndrome type iia//short rib-polydactyly syndrome, type iia//short-rib syndrome, type ii//short-rib thoracic dysplasia 6 with polydactyly//short-rib thoracic dysplasia 6 without polydactyly//srps2a//srtd6//type ii short rib polydactyly syndrome	NEK1	NEK1	https://raresource.nih.gov/literature/disease/0015224	0015224	263520		C0024507		NIMA related kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 6 with or without polydactyly"	30
Peroxisome biogenesis disorder type 3B	infantile refsum disease//ird//mild pbd-zsd//mild peroxisome biogenesis disorder-zellweger spectrum disorder//peroxisome biogenesis disorder 3b	PEX12	PEX12	https://raresource.nih.gov/literature/disease/0015226	0015226	266510	772	C3550693		peroxisomal biogenesis factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder type 3B"	1143
Saldino-Mainzer syndrome	conorenal syndrome//mainzer saldino syndrome//mainzer-saldino syndrome//renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia//renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia syndrome//renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome//saldino-mainzer dysplasia//short-rib thoracic dysplasia 9 with or without polydactyly//short-rib thoracic dysplasia 9 without polydactyly//srtd9	IFT140	IFT140	https://raresource.nih.gov/literature/disease/0015227	0015227	266920	140969	C1849437		intraflagellar transport 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Saldino-Mainzer syndrome"	36
Renal tubular acidosis with progressive nerve deafness	ar drta (autosomal recessive distal renal tubular acidosis) with deafness//autosomal recessive distal renal tubular acidosis with deafness//distal renal tubular acidosis 2 with progressive sensorineural hearing loss//distal renal tubular acidosis co-occurrent with sensorineural deafness//distal renal tubular acidosis with progressive sensorineural deafness//renal tubular acidosis with deafness//renal tubular acidosis, autosomal recessive, with progressive nerve deafness//renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss//renal tubular acidosis, distal, with progressive nerve deafness//rta with progressive nerve deafness	ATP6V1B1	ATP6V1B1	https://raresource.nih.gov/literature/disease/0015229	0015229	267300		C0403554	C562897	ATPase H+ transporting V1 subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal tubular acidosis with progressive nerve deafness"	None
Sclerosteosis 1	sclerosteosis caused by mutation in sost//sclerosteosis type 1//sost sclerosteosis//sost1	SOST	SOST	https://raresource.nih.gov/literature/disease/0015233	0015233	269500		C4551483		sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sclerosteosis 1"	1
Spermatogenic failure 4	aspermatogenesis//azoospermia caused by mutation in sycp3//azoospermia due to perturbations of meiosis//azoospermia with maturation arrest//pregnancy loss 4//spermatogenesis arrest//spermatogenic arrest//spermatogenic failure type 4//sycp3 azoospermia	SYCP3	SYCP3	https://raresource.nih.gov/literature/disease/0015235	0015235	270960		C0232981	C536875	synaptonemal complex protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 4"	189
Hereditary spherocytosis type 3	hereditary spherocytosis 3//hereditary spherocytosis caused by mutation in spta1//hs3//sph3//spherocytosis type 3//spta1 hereditary spherocytosis//spta1-related hereditary spherocytosis//spta1-related spherocytosis	SPTA1	SPTA1	https://raresource.nih.gov/literature/disease/0015236	0015236	270970		C2678338	C567489	spectrin alpha, erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis type 3"	None
Tetraamelia syndrome 1		WNT3	WNT3	https://raresource.nih.gov/literature/disease/0015238	0015238	273395		C4012268		Wnt family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetraamelia syndrome 1"	None
3M syndrome 1	3-m syndrome caused by mutation in cul7//3-m syndrome, cul7-related//cul7 3-m syndrome//three m syndrome 1//three m syndrome type 1	CUL7	CUL7	https://raresource.nih.gov/literature/disease/0015239	0015239			C2678312		cullin 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3M syndrome 1"	None
Glanzmann thrombasthenia 1	bdplt2//deficiency of glycoprotein complex iib-iiia//deficiency of gp iib-iiia complex//deficiency of platelet fibrinogen receptor//glycoprotein complex iib-iiia deficiency//glycoprotein iib/iiia defect//gp iib-iiia complex deficiency//gt1//platelet fibrinogen receptor deficiency//platelet-type bleeding disorder 2//thrombocytasthenia	ITGA2B	ITGA2B	https://raresource.nih.gov/literature/disease/0015240	0015240			CN300358	D013915	integrin subunit alpha 2b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glanzmann thrombasthenia 1"	4
Usher syndrome type 2A	retinal disease in usher syndrome type iia, modifier of//ush2a//ush2a usher syndrome//usher syndrome caused by mutation in ush2a//usher syndrome type iia//usher syndrome, type iia	USH2A	USH2A	https://raresource.nih.gov/literature/disease/0015241	0015241	276901		C1848634	C536490	usherin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 2A"	57
Usher syndrome type 3A	clrn1 usher syndrome//ush3a//usher syndrome caused by mutation in clrn1//usher syndrome type iiia//usher syndrome, type iiia	CLRN1	CLRN1	https://raresource.nih.gov/literature/disease/0015242	0015242	276902		C5779850		clarin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 3A"	11
Congenital bilateral aplasia of vas deferens from CFTR mutation	cbavd	CFTR	CFTR	https://raresource.nih.gov/literature/disease/0015243	0015243	277180		C0403814		CF transmembrane conductance regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bilateral aplasia of vas deferens from CFTR mutation"	283
Pontocerebellar hypoplasia type 2A	pch2a//pontocerebellar hypoplasia type 2 caused by mutation in tsen54//pontocerebellar hypoplasia with progressive cerebral atrophy//tsen54 pontocerebellar hypoplasia type 2//volendam neurodegenerative disease	TSEN54	TSEN54	https://raresource.nih.gov/literature/disease/0015244	0015244	277470		C1848526	C564738	tRNA splicing endonuclease subunit 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2A"	9
Waardenburg syndrome type 4A	ednrb waardenburg syndrome//shah waardenburg syndrome//waardenburg hirschsprung syndrome//waardenburg syndrome caused by mutation in ednrb//waardenburg syndrome co-occurrent with hirschsprung disease//waardenburg syndrome type iva//waardenburg syndrome with hirschsprung disease type 4a//waardenburg syndrome with hirschsprung disease, type 4a//ws4a	EDNRB	EDNRB	https://raresource.nih.gov/literature/disease/0015245	0015245	277580		C1848519		endothelin receptor type B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 4A"	36
Weill-Marchesani syndrome 1	adamts10 weill-marchesani syndrome//adamts10-related weill-marchesani syndrome//weill-marchesani syndrome 1, recessive//weill-marchesani syndrome caused by mutation in adamts10//weill-marchesani syndrome type 1//weill-marchesani syndrome, autosomal recessive//wms1	ADAMTS10	ADAMTS10	https://raresource.nih.gov/literature/disease/0015246	0015246	277600		C4552002		ADAM metallopeptidase with thrombospondin type 1 motif 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weill-Marchesani syndrome 1"	2
Hypotrichosis 8	hypotrichosis caused by mutation in lpar6//hypotrichosis type 8//hypotrichosis, localized, autosomal recessive 3//hypt8//lah3//lpar6 hypotrichosis	LPAR6	LPAR6	https://raresource.nih.gov/literature/disease/0015247	0015247	278150		C3279470	C566950	lysophosphatidic acid receptor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 8"	2
Muscle AMP deaminase deficiency	adenosine monophosphate deaminase 1//adenosine monophosphate deaminase 1 deficiency//adenosine monophosphate deaminase-1 deficiency, myopathy due to//amp deaminase 1 deficiency//ampd1 deficiency//mmdd//myoadenylate deaminase deficiency//myoadenylate deaminase deficiency, myopathy due to//myopathy due to myoadenylate deaminase deficiency	AMPD1	AMPD1	https://raresource.nih.gov/literature/disease/0015248	0015248	615511		C3714933		adenosine monophosphate deaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscle AMP deaminase deficiency"	121
46,XX sex reversal 2	46,xx sex reversal type 2//chromosome 17q24 duplication syndrome//srxx2//sry-negative 46,xx testicular disorder of sex development	SOX9	SOX9	https://raresource.nih.gov/literature/disease/0015249	0015249	278850		C2749215		SRY-box transcription factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX sex reversal 2"	None
Congenital stationary night blindness 2A	cacna1f congenital stationary night blindness//congenital stationary night blindness 2a x-linked//congenital stationary night blindness caused by mutation in cacna1f//congenital stationary night blindness type 2a//csnb, incomplete, x-linked//csnb2a//night blindness, congenital stationary (incomplete), 2a, x-linked//night blindness, congenital stationary, type 2	CACNA1F	CACNA1F	https://raresource.nih.gov/literature/disease/0015251	0015251	300071		C1848172		calcium voltage-gated channel subunit alpha1 F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 2A"	7
Fanconi anemia complementation group B	fa2//facb//fancb//fanconi anaemia complementation group type b//fanconi anemia complementation group type b//fanconi anemia, complementation group b, x-linked recessive//fanconi anemia, complementation group type b//fanconi pancytopenia type 2//fanconi pancytopenia, type 2	FANCB	FANCB	https://raresource.nih.gov/literature/disease/0015257	0015257	300514		C1845292	C564497	FA complementation group B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group B"	None
Congenital muscular hypertrophy-cerebral syndrome	bruch-de lange syndrome//cdls2//cornelia de lange syndrome 2//cornelia de lange syndrome 2, x-linked dominant//cornelia de lange syndrome caused by mutation in smc1a//cornelia de lange syndrome type 2//smc1a cornelia de lange syndrome//smc1a-related cornelia de lange syndrome//x-linked cornelia de lange syndrome	SMC1A	SMC1A	https://raresource.nih.gov/literature/disease/0015259	0015259	300590		C1802395		structural maintenance of chromosomes 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular hypertrophy-cerebral syndrome"	6
Myopathy, reducing body, X-linked, early-onset, severe	rbmx1a//reducing body myopathy, x-linked 1, severe, with infantile or early childhood onset//reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset, x-linked dominant	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0015261	0015261	300717		C4225423	C567469	four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, reducing body, X-linked, early-onset, severe"	None
Myopathy, reducing body, X-linked, childhood-onset	rbmx1b//reducing body myopathy, x-linked 1b, with late childhood or adult onset	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0015262	0015262	300718		C4225159	C567468	four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, reducing body, X-linked, childhood-onset"	None
Surfactant metabolism dysfunction, pulmonary, 4	csf2ra deficiency//csf2ra-related pulmonary surfactant metabolism dysfunction//pap due to csf2ra deficiency//pulmonary alveolar proteinosis, congenital, 4//smdp4//surfactant metabolism dysfunction, pulmonary, type 4	CSF2RA	CSF2RA	https://raresource.nih.gov/literature/disease/0015263	0015263	300770		C2677877	C567461	colony stimulating factor 2 receptor subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Surfactant metabolism dysfunction, pulmonary, 4"	2
Syndromic X-linked intellectual disability Raymond type	intellectual developmental disorder, x-linked, syndromic, raymond type//intellectual disability, x-linked syndromic, raymond type//mental retardation, x-linked syndromic, raymond type//mrxsr	ZDHHC9	ZDHHC9	https://raresource.nih.gov/literature/disease/0015264	0015264	300799		C3275406		zDHHC palmitoyltransferase 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Raymond type"	None
Joubert syndrome 10	jbts10//joubert syndrome 10, x-linked recessive//joubert syndrome caused by mutation in ofd1//joubert syndrome type 10//ofd1 joubert syndrome//ofd1-related joubert syndrome	OFD1	OFD1	https://raresource.nih.gov/literature/disease/0015265	0015265	300804		C2749019	C567582	OFD1 centriole and centriolar satellite protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 10"	5
Chromosome Xq28 duplication syndrome	xq28 duplication syndrome, int22h1/int22h2-mediated//xq28 recurrent microduplication syndrome	RAB39B;CLIC2	RAB39B;CLIC2	https://raresource.nih.gov/literature/disease/0015266	0015266	300815		C2749007	C567580	RAB39B, member RAS oncogene family; chloride intracellular channel 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome Xq28 duplication syndrome"	None
Macular degeneration, X-linked atrophic	macular degeneration, x-linked atrophic, x-linked recessive	RPGR	RPGR	https://raresource.nih.gov/literature/disease/0015268	0015268	300834		C3151784		retinitis pigmentosa GTPase regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular degeneration, X-linked atrophic"	None
Amyotrophic lateral sclerosis type 15	als15//amyotrophic lateral sclerosis 15//amyotrophic lateral sclerosis 15 with frontotemporal dementia//amyotrophic lateral sclerosis 15, with or without frontotemporal dementia//amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, x-linked dominant//amyotrophic lateral sclerosis caused by mutation in ubqln2//ubqln2 amyotrophic lateral sclerosis//ubqln2-related amyotrophic lateral sclerosis and frontotemporal dementia	UBQLN2	UBQLN2	https://raresource.nih.gov/literature/disease/0015269	0015269	300857		C3275459		ubiquilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 15"	None
Kabuki syndrome 2	kabuk2//kabuki syndrome 2, x-linked dominant//kabuki syndrome type 2//kdm6a-related kabuki syndrome	KDM6A	KDM6A	https://raresource.nih.gov/literature/disease/0015270	0015270	300867		C3275495		lysine demethylase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kabuki syndrome 2"	13
Cornelia de Lange syndrome 5	cdls5//cornelia de lange syndrome 5, x-linked dominant//cornelia de lange syndrome type 5//hdac8-related cornelia de lange syndrome	HDAC8	HDAC8	https://raresource.nih.gov/literature/disease/0015271	0015271	300882		C3550903		histone deacetylase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornelia de Lange syndrome 5"	1
Linear skin defects with multiple congenital anomalies 2	cox7b microphthalmia with linear skin defects syndrome//linear skin defects with multiple congenital anomalies 2, x-linked dominant//linear skin defects with multiple congenital anomalies type 2//lsdmca2//microphthalmia with linear skin defects syndrome caused by mutation in cox7b	COX7B	COX7B	https://raresource.nih.gov/literature/disease/0015272	0015272	300887		C3550921		cytochrome c oxidase subunit 7B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear skin defects with multiple congenital anomalies 2"	None
Olmsted syndrome, X-linked	olmsted syndrome, x-linked, x-linked recessive//olmsx//palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked	MBTPS2	MBTPS2	https://raresource.nih.gov/literature/disease/0015273	0015273	300918		C3806745		membrane bound transcription factor peptidase, site 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Olmsted syndrome, X-linked"	None
Pituitary adenoma, growth hormone-secreting, 2	acromegaly due to pituitary adenoma 2//acromegaly, x-linked//gpr101 pituitary gland adenoma//pita2//pituitary adenoma 2, gh-secreting//pituitary adenoma, growth hormone-secreting, type 2//pituitary gland adenoma caused by mutation in gpr101	GPR101	GPR101	https://raresource.nih.gov/literature/disease/0015274	0015274	300943		C4012409		G protein-coupled receptor 101	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary adenoma, growth hormone-secreting, 2"	None
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	dba14//diamond-blackfan anaemia 14 with mandibulofacial dysostosis, x-linked recessive//diamond-blackfan anaemia caused by mutation in tsr2//diamond-blackfan anemia 14 with mandibulofacial dysostosis, x-linked recessive//diamond-blackfan anemia caused by mutation in tsr2//tsr2 diamond-blackfan anaemia//tsr2 diamond-blackfan anemia	TSR2	TSR2	https://raresource.nih.gov/literature/disease/0015275	0015275	300946		C4225422		TSR2 ribosome maturation factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"	None
Linear skin defects with multiple congenital anomalies 3	linear skin defects with cardiomyopathy and other congenital anomalies//linear skin defects with multiple congenital anomalies 3, x-linked dominant//linear skin defects with multiple congenital anomalies type 3//lsdmca3//microphthalmia with linear skin defects syndrome caused by mutation in ndufb11//ndufb11 microphthalmia with linear skin defects syndrome	NDUFB11	NDUFB11	https://raresource.nih.gov/literature/disease/0015276	0015276	300952		C4225421		NADH:ubiquinone oxidoreductase subunit B11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear skin defects with multiple congenital anomalies 3"	None
Trichothiodystrophy 5, nonphotosensitive	nonphotosensitive trichothiodystrophy caused by mutation in rnf113a//rnf113a nonphotosensitive trichothiodystrophy//ttd5	RNF113A	RNF113A	https://raresource.nih.gov/literature/disease/0015277	0015277	300953		C4225420		ring finger protein 113A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 5, nonphotosensitive"	None
Ritscher-Schinzel syndrome 2	ccdc22 ritscher-schinzel syndrome//ritscher-schinzel syndrome 2, x-linked recessive//ritscher-schinzel syndrome caused by mutation in ccdc22//ritscher-schinzel syndrome type 2//rtsc2	CCDC22	CCDC22	https://raresource.nih.gov/literature/disease/0015278	0015278	300963		C4225419		CCC complex scaffolding subunit CCDC22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ritscher-Schinzel syndrome 2"	None
Vas deferens, congenital bilateral aplasia of, X-linked	cbavdx//congenital bilateral absence of vas deferens, x-linked//vas deferens, congenital bilateral aplasia of, x-linked; cbavdx	ADGRG2	ADGRG2	https://raresource.nih.gov/literature/disease/0015279	0015279	300985		C4310815		adhesion G protein-coupled receptor G2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vas deferens, congenital bilateral aplasia of, X-linked"	None
Ciliary dyskinesia, primary, 36, X-linked	cild36//ciliary dyskinesia, primary, 36, with or without situs inversus//ciliary dyskinesia, primary, 36, x-linked, x-linked recessive//ciliary dyskinesia, primary, 36, x-linked; cild36//pih1d3 primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in pih1d3	DNAAF6	DNAAF6	https://raresource.nih.gov/literature/disease/0015280	0015280	300991		C4478372		dynein axonemal assembly factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 36, X-linked"	None
Galloway-Mowat syndrome 2, X-linked	galloway-mowat syndrome 2, x-linked, x-linked recessive	LAGE3	LAGE3	https://raresource.nih.gov/literature/disease/0015281	0015281	301006		C4538784		L antigen family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 2, X-linked"	None
Intellectual disability, X-linked, syndromic, Houge type	intellectual developmental disorder, x-linked, syndromic, houge type//mental retardation, x-linked, syndromic, houge type	CNKSR2	CNKSR2	https://raresource.nih.gov/literature/disease/0015282	0015282	301008		C4538788		connector enhancer of kinase suppressor of Ras 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked, syndromic, Houge type"	None
Mitochondrial complex I deficiency, nuclear type 12	mitochondrial complex 1 deficiency, nuclear type 12//mitochondrial complex i deficiency, nuclear type 12, x-linked recessive	NDUFA1	NDUFA1	https://raresource.nih.gov/literature/disease/0015283	0015283	301020		C4746984		NADH:ubiquinone oxidoreductase subunit A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 12"	None
Mitochondrial complex I deficiency, nuclear type 30	mitochondrial complex 1 deficiency, nuclear type 30	NDUFB11	NDUFB11	https://raresource.nih.gov/literature/disease/0015284	0015284	301021		C4746985		NADH:ubiquinone oxidoreductase subunit B11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 30"	None
Nephrotic syndrome, type 20		TBC1D8B	TBC1D8B	https://raresource.nih.gov/literature/disease/0015285	0015285	301028		C5193011		TBC1 domain family member 8B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 20"	None
Developmental and epileptic encephalopathy, 90	dee90//developmental and epileptic encephalopathy 90, x-linked recessive, x-linked dominant	FGF13	FGF13	https://raresource.nih.gov/literature/disease/0015286	0015286	301058		C5542345		fibroblast growth factor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 90"	1
Dilated cardiomyopathy 3B	cardiomyopathy, dilated, type 3b//cardiomyopathy, dilated, x-linked//cmd3b//cmd3b: dmd-related dilated cardiomyopathy//dilated cardiomyopathy caused by mutation in dmd//dilated cardiomyopathy type 3b//dmd dilated cardiomyopathy//dmd-associated dilated cardiomyopathy//dmd-related dilated cardiomyopathy//duchenne muscular dystrophy-associated dilated cardiomyopathy//x-linked dilated cardiomyopathy	DMD	DMD	https://raresource.nih.gov/literature/disease/0015287	0015287	302045		C3668940	C580047	dystrophin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 3B"	87
Diabetes insipidus, nephrogenic, X-linked	diabetes insipidus, nephrogenic, 1, x-linked recessive//nephrogenic diabetes insipidus, type i	AVPR2	AVPR2	https://raresource.nih.gov/literature/disease/0015289	0015289	304800		C1563705		arginine vasopressin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes insipidus, nephrogenic, X-linked"	1
Exudative vitreoretinopathy 2, X-linked	exudative vitreoretinopathy 2, x-linked, x-linked recessive, x-linked dominant//exudative vitreoretinopathy caused by mutation in ndp//exudative vitreoretinopathy, familial, 2//familial exudative vitreoretinopathy, x-linked//fevr, x-linked//ndp exudative vitreoretinopathy	NDP	NDP	https://raresource.nih.gov/literature/disease/0015292	0015292	305390		C1844579	C564428	norrin cystine knot growth factor NDP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exudative vitreoretinopathy 2, X-linked"	None
Frontometaphyseal dysplasia 1	flna frontometaphyseal dysplasia//fmd1//frontometaphyseal dysplasia 1, x-linked recessive//frontometaphyseal dysplasia caused by mutation in flna	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0015293	0015293	305620		C4281559		filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontometaphyseal dysplasia 1"	5
Granulomatous disease, chronic, X-linked	cdgx//cgd//chronic granulomatous disease, atypical//chronic granulomatous disease, x-linked//chronic granulomatous disease, x-linked, x-linked recessive//cytochrome b-negative granulomatous disease, chronic, x-linked//cytochrome b-positive granulomatous disease, chronic, x-linked//granulomatous disease, chronic, autosomal dominant type//granulomatous disease, chronic, x-linked, somatic mosaic//granulomatous disease, chronic, x-linked, variant	CYBB	CYBB	https://raresource.nih.gov/literature/disease/0015294	0015294	306400		C1844376	C564210	cytochrome b-245 beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatous disease, chronic, X-linked"	1872
Hernia, anterior diaphragmatic	dih5	PLS3	PLS3	https://raresource.nih.gov/literature/disease/0015295	0015295	306950		C1844025	C564413	plastin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hernia, anterior diaphragmatic"	None
IFAP syndrome 1, with or without BRESHECK syndrome	ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia//ifap syndrome 1//ifap syndrome with or without bresheck syndrome//ifap syndrome with or without bresheck syndrome, x-linked recessive//ifap/bresheck syndrome	MBTPS2	MBTPS2	https://raresource.nih.gov/literature/disease/0015297	0015297	308205		C5399971	C536085	membrane bound transcription factor peptidase, site 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IFAP syndrome 1, with or without BRESHECK syndrome"	None
Developmental and epileptic encephalopathy, 1	arx early infantile epileptic encephalopathy//dee1//developmental and epileptic encephalopathy 1, x-linked recessive//early infantile epileptic encephalopathy caused by mutation in arx//eiee1//epileptic encephalopathy, early infantile, 1//epileptic encephalopathy, early infantile, type 1//infantile spasm syndrome, x-linked 1//ohtahara syndrome, x-linked//tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on eeg//x-linked infantile spasm syndrome//x-linked infantile spasms	ARX	ARX	https://raresource.nih.gov/literature/disease/0015298	0015298	308350		C3463992		aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 1"	29
Keratosis follicularis spinulosa decalvans, X-linked	keratosis follicularis spinulosa decalvans, x-linked, x-linked recessive//kfsdx	MBTPS2	MBTPS2	https://raresource.nih.gov/literature/disease/0015299	0015299	308800		C3887525	C536159	membrane bound transcription factor peptidase, site 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis follicularis spinulosa decalvans, X-linked"	1
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, x-linked recessive	CLCN5	CLCN5	https://raresource.nih.gov/literature/disease/0015301	0015301	308990		C1839874	C545036	chloride voltage-gated channel 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis"	None
Spermatogenic failure, X-linked, 2	azoospermia caused by mutation in tex11//male infertility from defect in meiosis//spermatogenic failure, x-linked, 2, x-linked recessive//spermatogenic failure, x-linked, type 2//spgfx2//tex11 azoospermia	TEX11	TEX11	https://raresource.nih.gov/literature/disease/0015302	0015302	309120		C1839841		testis expressed 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure, X-linked, 2"	None
Microphthalmia, syndromic 1	anop1//anop1, formerly//lenz dysplasia//maa, formerly//mcops1//mcops4//mcops4, formerly//microphthalmia syndromic 4//microphthalmia with ankyloblepharon and intellectual disability//microphthalmia with ankyloblepharon and mental retardation//microphthalmia, syndromic 4, formerly//microphthalmia, syndromic type 1//microphthalmia-ankyloblepharon-intellectual disability syndrome//syndromic microphthalmia type 4	BCOR;NAA10	BCOR;NAA10	https://raresource.nih.gov/literature/disease/0015304	0015304	309800	85275	C0796016	C537464	BCL6 corepressor; N-alpha-acetyltransferase 10, NatA catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, syndromic 1"	2
X-linked recessive nephrolithiasis with renal failure	nephrolithiasis 1//nephrolithiasis, type i, x-linked recessive//nephrolithiasis, x-linked recessive, type 1//nephrolithiasis, x-linked recessive, with renal failure//urolithiasis, x-linked recessive, type 1//xrn	CLCN5	CLCN5	https://raresource.nih.gov/literature/disease/0015305	0015305	310468		C0403720	C562901	chloride voltage-gated channel 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked recessive nephrolithiasis with renal failure"	5
Congenital stationary night blindness 1A	complete csnb x-linked//congenital stationary night blindness 1a x-linked//congenital stationary night blindness caused by mutation in nyx//congenital stationary night blindness type 1a//congenital stationary night blindness with myopia//csnb, complete, x-linked//csnb1a//hemeralopia-myopia//myopia-night blindness//nbmi//night blindness, congenital stationary (complete), 1a, x-linked//night blindness, congenital stationary (complete), 1a, x-linked, x-linked recessive//night blindness, congenital stationary, type 1a//night blindness, congenital stationary, with myopia//nyx congenital stationary night blindness//nyx-related congenital stationary night blindness//nyx-related x-linked congenital stationary night blindness	NYX	NYX	https://raresource.nih.gov/literature/disease/0015306	0015306	310500		C3495587		nyctalopin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1A"	3
VACTERL association, X-linked, with or without hydrocephalus	vacterl association with hydrocephalus, x-linked//vacterl association, x-linked//vacterl association, x-linked, x-linked recessive//vacterl-h, x-linked//vacterlx//x-linked vacterl-h syndrome	ZIC3	ZIC3	https://raresource.nih.gov/literature/disease/0015309	0015309	314390		C2931228		Zic family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=VACTERL association, X-linked, with or without hydrocephalus"	2
Stargardt disease 3	macular dystrophy with flecks, type 3//stargardt disease type 3//stargardt-like macular dystrophy, autosomal dominant	ELOVL4	ELOVL4	https://raresource.nih.gov/literature/disease/0015314	0015314	600110		C1838644	C535805	ELOVL fatty acid elongase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stargardt disease 3"	5
Autosomal dominant nocturnal frontal lobe epilepsy 1	autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in chrna4//autosomal dominant nocturnal frontal lobe epilepsy type 1//chrna4 autosomal dominant nocturnal frontal lobe epilepsy//chrna4-related nocturnal frontal lobe epilepsy, autosomal dominant//enfl1//epilepsy, nocturnal frontal lobe, type 1//nocturnal frontal lobe epilepsy 1	CHRNA4	CHRNA4	https://raresource.nih.gov/literature/disease/0015319	0015319	600513		C1838049	C563930	cholinergic receptor nicotinic alpha 4 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nocturnal frontal lobe epilepsy 1"	None
UV-sensitive syndrome 1	ercc6 uv-sensitive syndrome//uv-sensitive syndrome caused by mutation in ercc6//uv-sensitive syndrome type 1//uvss1	ERCC6	ERCC6	https://raresource.nih.gov/literature/disease/0015320	0015320	600630		C3551173		ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UV-sensitive syndrome 1"	None
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	congenital fibrosis of extraocular muscles caused by mutation in tubb3//congenital fibrosis of the extraocular muscles 3a//feom3 locus//fibrosis of extraocular muscles, congenital, 3a//tubb3 congenital fibrosis of extraocular muscles//tubb3-related congenital fibrosis of the extraocular muscles	TUBB3	TUBB3	https://raresource.nih.gov/literature/disease/0015321	0015321	600638		C2748801	C567572	tubulin beta 3 class III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	None
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	amyotrophic lateral sclerosis 17//amyotrophic lateral sclerosis caused by mutation in chmp2b//amyotrophic lateral sclerosis, chmp2b-related//chmp2b amyotrophic lateral sclerosis//chmp2b-related amyotrophic lateral sclerosis//chmp2b-related frontotemporal dementia//chromosome 3-linked frontotemporal dementia//frontotemporal dementia with gene located on 3p11//frontotemporal dementia, chromosome 3-linked//ftd3//ftdals7	CHMP2B	CHMP2B	https://raresource.nih.gov/literature/disease/0015322	0015322	600795		C1833296	C563708;C579991	charged multivesicular body protein 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	12
Fanconi anemia complementation group E	face//fance//fance fanconi anaemia//fance fanconi anemia//fanconi anaemia caused by mutation in fance//fanconi anaemia complementation group type e//fanconi anemia caused by mutation in fance//fanconi anemia complementation group type e//fanconi anemia, complementation group type e	FANCE	FANCE	https://raresource.nih.gov/literature/disease/0015324	0015324	600901		C3160739		FA complementation group E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group E"	823
Nephrotic syndrome, type 2	hereditary nephrotic syndrome//idiopathic srns (steroid-resistant nephrotic syndrome)//idiopathic steroid-resistant nephrotic syndrome//nephrotic syndrome caused by mutation in nphs2//nephrotic syndrome, steroid-resistant, autosomal recessive//nphs2//nphs2 nephrotic syndrome	NPHS2	NPHS2	https://raresource.nih.gov/literature/disease/0015326	0015326			C1868672		NPHS2 stomatin family member, podocin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 2"	83
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	familial platelet disorder with propensity to acute myelogenous leukemia//familial platelet syndrome with predisposition to acute myelogenous leukaemia//familial platelet syndrome with predisposition to acute myelogenous leukemia//fpd/aml syndrome//fps/aml syndrome//platelet disorder, aspirin-like	RUNX1	RUNX1	https://raresource.nih.gov/literature/disease/0015329	0015329			C1832388		RUNX family transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"	1
Congenital myasthenic syndrome 1A	chrna1 congenital myasthenic syndrome//cms iia//cms1a//congenital myasthenic syndrome 1a, slow-channel//congenital myasthenic syndrome caused by mutation in chrna1//congenital myasthenic syndrome type 1a//congenital myasthenic syndrome type iia//myasthenic syndrome, congenital, 1a, slow-channel//myasthenic syndrome, congenital, type iia	CHRNA1	CHRNA1	https://raresource.nih.gov/literature/disease/0015330	0015330	601462		C2931107		cholinergic receptor nicotinic alpha 1 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 1A"	1
Dilated cardiomyopathy 1C	cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction//cardiomyopathy, dilated, 1c, with or without lvnc//cardiomyopathy, hypertrophic, 24//cmd1c//cmdc1//dilated cardiomyopathy 1c with or without left ventricular noncompaction//dilated cardiomyopathy type 1c//ldb3-related dilated cardiomyopathy	LDB3	LDB3	https://raresource.nih.gov/literature/disease/0015331	0015331	601493		C1832244	C563307	LIM domain binding 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1C"	1
Dilated cardiomyopathy 1D	cardiomyopathy, dilated, type 1d//cmd1d//dilated cardiomyopathy type 1d//familial isolated dilated cardiomyopathy caused by mutation in tnnt2//tnnt2 familial isolated dilated cardiomyopathy//tnnt2-related dilated cardiomyopathy	TNNT2	TNNT2	https://raresource.nih.gov/literature/disease/0015332	0015332	601494		C1832243	C563306	troponin T2, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1D"	3
Prostate cancer, hereditary, 1	familial prostate cancer caused by mutation in rnasel//hpc1//prostate cancer 1//prostate cancer, hereditary, type 1//rnasel familial prostate cancer	RNASEL	RNASEL	https://raresource.nih.gov/literature/disease/0015334	0015334	601518		C4722327		ribonuclease L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prostate cancer, hereditary, 1"	None
Cataract 3 multiple types	cataract (disease) caused by mutation in crybb2//cataract 3 multiple types with or without microcornea//cataract 3, multiple types, with or without microcornea//crybb2 cataract (disease)//ctrct3	CRYBB2	CRYBB2	https://raresource.nih.gov/literature/disease/0015335	0015335	601547		C1832175	C563294	crystallin beta B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 3 multiple types"	None
Wilms tumor 5	wilms tumor susceptibility-5//wilms tumor susceptibility-5, autosomal dominant, somatic mutation//wilms tumor type 5//wilms tumor, susceptibility to//wilms tumour susceptibility-5, autosomal dominant, somatic mutation//wilms tumour type 5	POU6F2	POU6F2	https://raresource.nih.gov/literature/disease/0015336	0015336	601583		C1832099	C536707	POU class 6 homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilms tumor 5"	None
Exudative vitreoretinopathy 4	evr4//exudative vitreoretinopathy type 4//lrp5-related familial exudative vitreoretinopathy, autosomal dominant//lrp5-related familial exudative vitreoretinopathy, autosomal recessive	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0015337	0015337	601813		C1866176	C566619	LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exudative vitreoretinopathy 4"	None
Friedreich ataxia 2	frda2	FXN	FXN	https://raresource.nih.gov/literature/disease/0015340	0015340	601992		C1865981	C566594	frataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Friedreich ataxia 2"	None
Fibrosis of extraocular muscles, congenital, 2	cfeom2//congenital fibrosis of extraocular muscles caused by mutation in phox2a//congenital fibrosis of the extraocular muscles 2//feom2 locus//fibrosis of extraocular muscles, congenital, autosomal recessive//fibrosis of extraocular muscles, congenital, type 2//phox2a congenital fibrosis of extraocular muscles//phox2a-related congenital fibrosis of the extraocular muscles	PHOX2A	PHOX2A	https://raresource.nih.gov/literature/disease/0015341	0015341	602078		C1865915	C566587	paired like homeobox 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrosis of extraocular muscles, congenital, 2"	11
Cone dystrophy 3	cod3//cone dystrophy caused by mutation in guca1a//cone dystrophy type 3//guca1a cone dystrophy//retinal cone dystrophy	GUCA1A	GUCA1A	https://raresource.nih.gov/literature/disease/0015342	0015342	602093		C1865869		guanylate cyclase activator 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone dystrophy 3"	8
Amyotrophic lateral sclerosis type 5	als5//als5 - amyotrophic lateral sclerosis type 5//amyotrophic lateral sclerosis 5//amyotrophic lateral sclerosis 5, juvenile//amyotrophic lateral sclerosis caused by mutation in spg11//juvenile amyotrophic lateral sclerosis type 5//spg11 amyotrophic lateral sclerosis	SPG11	SPG11	https://raresource.nih.gov/literature/disease/0015343	0015343	602099		C1865864	C566576	SPG11 vesicle trafficking associated, spatacsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 5"	2
Auriculocondylar syndrome 1	arcnd1//auriculocondylar syndrome caused by mutation in gnai3//auriculocondylar syndrome type 1//gnai3 auriculocondylar syndrome	GNAI3	GNAI3	https://raresource.nih.gov/literature/disease/0015346	0015346	602483		C4551996		G protein subunit alpha i3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome 1"	1
Bartter disease type 4A	barts4a//bartter syndrome caused by mutation in bsnd//bartter syndrome type 4a//bartter syndrome, neonatal, with sensorineural deafness//bartter syndrome, type 4a//bartter syndrome, type 4a, neonatal, with sensorineural deafness//bsnd//bsnd bartter syndrome//neonatal bartter syndrome with sensorineural deafness	BSND	BSND	https://raresource.nih.gov/literature/disease/0015348	0015348	602522		C1865270		barttin CLCNK type accessory subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter disease type 4A"	7
Ichthyosis, hystrix-like, with hearing loss	hid syndrome//hystrix-like ichthyosis with deafness	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0015349	0015349	602540		C1865234	C566528	gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, hystrix-like, with hearing loss"	1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	classical distal renal tubular acidosis//classical distal rta//distal renal tubular acidosis 3, with or without sensorineural hearing loss//drta3//renal tubular acidosis, distal, autosomal recessive//type 1 renal tubular acidosis//type 1 rta	ATP6V0A4	ATP6V0A4	https://raresource.nih.gov/literature/disease/0015350	0015350	602722		C5399980		ATPase H+ transporting V0 subunit a4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss"	37
Focal segmental glomerulosclerosis 1	actn4 focal segmental glomerulosclerosis//familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis//focal segmental glomerulosclerosis caused by mutation in actn4//focal segmental glomerulosclerosis type 1//fsgs1	ACTN4	ACTN4	https://raresource.nih.gov/literature/disease/0015353	0015353	603278		C4551527	C538457	actinin alpha 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 1"	1
Fanconi anemia complementation group F	fancf//fanconi anaemia complementation group type f//fanconi anemia complementation group type f//fanconi anemia, complementation group type f	FANCF	FANCF	https://raresource.nih.gov/literature/disease/0015355	0015355	603467		C3469526		FA complementation group F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group F"	2
Stargardt disease 4	prom1 stargardt disease//stargardt disease caused by mutation in prom1//stargardt disease type 4//stgd4	PROM1	PROM1	https://raresource.nih.gov/literature/disease/0015359	0015359	603786		C1863534	C535521	prominin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stargardt disease 4"	4
Autoimmune lymphoproliferative syndrome type 2A	alps-casp10//alps2a//autoimmune lymphoproliferative syndrome caused by mutation in casp10//autoimmune lymphoproliferative syndrome type 2//autoimmune lymphoproliferative syndrome type iia//autoimmune lymphoproliferative syndrome, type ii//autoimmune lymphoproliferative syndrome, type iia//autoimmune lymphoproliferative syndrome-casp10 variant//casp10 autoimmune lymphoproliferative syndrome//casp10-related autoimmune lymphoproliferative syndrome//type 2 alps//type 2 autoimmune lymphoproliferative syndrome	CASP10	CASP10	https://raresource.nih.gov/literature/disease/0015361	0015361	603909		C1858968	C565833	caspase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome type 2A"	6
Focal segmental glomerulosclerosis 2	focal segmental glomerulosclerosis caused by mutation in trpc6//focal segmental glomerulosclerosis type 2//fsgs2//trpc6 focal segmental glomerulosclerosis	TRPC6	TRPC6	https://raresource.nih.gov/literature/disease/0015362	0015362	603965		C1858915	C565831	transient receptor potential cation channel subfamily C member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 2"	None
Dilated cardiomyopathy 1G	cardiomyopathy, dilated, type 1g//cmd1g//dilated cardiomyopathy type 1g//familial isolated dilated cardiomyopathy caused by mutation in ttn//ttn familial isolated dilated cardiomyopathy//ttn-related dilated cardiomyopathy	TTN	TTN	https://raresource.nih.gov/literature/disease/0015363	0015363	604145		C1858763	C565824	titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1G"	1
Cataract 9 multiple types	cataract (disease) caused by mutation in cryaa//cataract 9 multiple types with or without microcornea//cataract 9, multiple types, with or without microcornea//cataract, autosomal recessive congenital 1//cryaa cataract (disease)//ctrct9	CRYAA	CRYAA	https://raresource.nih.gov/literature/disease/0015364	0015364	604219		C1858679		crystallin alpha A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 9 multiple types"	None
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	microcephaly 2, primary, autosomal recessive, with cortical malformations	WDR62	WDR62	https://raresource.nih.gov/literature/disease/0015366	0015366	604317		C1858535	C565794	WD repeat domain 62	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	None
Microcephaly 4, primary, autosomal recessive		KNL1	KNL1	https://raresource.nih.gov/literature/disease/0015367	0015367	604321		C1858516	C565792	kinetochore scaffold 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 4, primary, autosomal recessive"	None
Advanced sleep phase syndrome 1	advanced sleep phase syndrome caused by mutation in per2//advanced sleep phase syndrome type 1//advanced sleep phase syndrome, familial, type 1//familial advanced sleep phase syndrome 1//fasps1//per2 advanced sleep phase syndrome	PER2	PER2	https://raresource.nih.gov/literature/disease/0015368	0015368			C3807327		period circadian regulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Advanced sleep phase syndrome 1"	1
Dilated cardiomyopathy 1I	cardiomyopathy, dilated, type 1i//cmd1i//des familial isolated dilated cardiomyopathy//des-related dilated cardiomyopathy//dilated cardiomyopathy type 1i//familial isolated dilated cardiomyopathy caused by mutation in des	DES	DES	https://raresource.nih.gov/literature/disease/0015372	0015372	604765		C1858154	C565752	desmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1I"	None
Microcephaly 3, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cdk5rap2//cdk5rap2 autosomal recessive primary microcephaly	CDK5RAP2	CDK5RAP2	https://raresource.nih.gov/literature/disease/0015373	0015373	604804		C1858108	C565746	CDK5 regulatory subunit associated protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 3, primary, autosomal recessive"	None
Wolfram syndrome 2	cisd2 wolfram syndrome//wfs2//wolfram syndrome caused by mutation in cisd2//wolfram syndrome type 2	CISD2	CISD2	https://raresource.nih.gov/literature/disease/0015374	0015374	604928		C1858028	C565733	CDGSH iron sulfur domain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolfram syndrome 2"	31
Cortisone reductase deficiency 1	apparent cortisone reductase deficiency//cortisone reductase deficiency caused by mutation in h6pd//cortisone reductase deficiency type 1//cortrd1//h6pd cortisone reductase deficiency//hexose-6-phosphate dehydrogenase deficiency	H6PD	H6PD	https://raresource.nih.gov/literature/disease/0015375	0015375	604931		C3551716		hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cortisone reductase deficiency 1"	8
Familial hypobetalipoproteinemia 2	angptl3 hypobetalipoproteinemia//combined familial hypolipidemia//familial hypobetalipoproteinemia type 2//fhbl2//hypobetalipoproteinemia caused by mutation in angptl3//hypobetalipoproteinemia, familial, type 2//hypolipidemia, familial, combined	ANGPTL3	ANGPTL3	https://raresource.nih.gov/literature/disease/0015376	0015376	605019		C1857970	C565732	angiopoietin like 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypobetalipoproteinemia 2"	13
Split hand-foot malformation 4	shfm4//split hand-foot malformation caused by mutation in tp63//split hand-foot malformation type 4//split-hand/foot malformation type 4//split-hand/foot malformation type 4 (shfm4 syndrome)//split-hand/foot malformation type 4 (shfm4)//tp63 split hand-foot malformation	TP63	TP63	https://raresource.nih.gov/literature/disease/0015378	0015378	605289		C1854442	C565344	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Split hand-foot malformation 4"	7
Autosomal dominant nocturnal frontal lobe epilepsy 3	autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in chrnb2//autosomal dominant nocturnal frontal lobe epilepsy type 3//chrnb2 autosomal dominant nocturnal frontal lobe epilepsy//chrnb2-related nocturnal frontal lobe epilepsy, autosomal dominant//enfl3//epilepsy, nocturnal frontal lobe, type 3//nocturnal frontal lobe epilepsy 3	CHRNB2	CHRNB2	https://raresource.nih.gov/literature/disease/0015380	0015380	605375		C1854335	C565334	cholinergic receptor nicotinic beta 2 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nocturnal frontal lobe epilepsy 3"	None
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1//dfna39/dentinogenesis imperfecta 1 syndrome//dfna39/dgi1 syndrome//dgi1/dfna39 syndrome	DSPP	DSPP	https://raresource.nih.gov/literature/disease/0015383	0015383	605594		C1854146	C565316	dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"	None
Congenital myasthenic syndrome 4A	cms ia1//cms1a1//cms4a//congenital myasthenic syndrome 4a slow-channel//congenital myasthenic syndrome type 4a//congenital myasthenic syndrome type ia1//congenital myasthenic syndrometype ia1//myasthenic syndrome, congenital, 4a, slow-channel//myasthenic syndrome, congenital, 4a, slow-channel, autosomal recessive	CHRNE	CHRNE	https://raresource.nih.gov/literature/disease/0015387	0015387	605809		C4225413		cholinergic receptor nicotinic epsilon subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 4A"	None
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	dba15//diamond blackfan anaemia 15 with mandibulofacial dysostosis//diamond-blackfan anaemia caused by mutation in rps28//diamond-blackfan anemia caused by mutation in rps28//rps28 diamond-blackfan anaemia//rps28 diamond-blackfan anemia	RPS28	RPS28	https://raresource.nih.gov/literature/disease/0015390	0015390	606164		C4225411		ribosomal protein S28	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 15 with mandibulofacial dysostosis"	None
Autosomal recessive congenital ichthyosis 3	arci3//autosomal recessive congenital ichthyosis type 3//ichthyosis, congenital, autosomal recessive type 3//ichthyosis, lamellar, 5//lamellar ichthyosis 5	ALOXE3	ALOXE3	https://raresource.nih.gov/literature/disease/0015393	0015393	606545		C3539888	C564699	arachidonate epidermal lipoxygenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 3"	None
Dilated cardiomyopathy 1L	cardiomyopathy, dilated, type 1l//cmd1l//dilated cardiomyopathy type 1l//familial isolated dilated cardiomyopathy caused by mutation in sgcd//sgcd familial isolated dilated cardiomyopathy//sgcd-related dilated cardiomyopathy	SGCD	SGCD	https://raresource.nih.gov/literature/disease/0015397	0015397	606685		C1847667	C564679	sarcoglycan delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1L"	None
Seckel syndrome 2	microcephalic primordial dwarfism 2//rbbp8 seckel syndrome//sckl2//seckel syndrome caused by mutation in rbbp8//seckel syndrome type 2//seckel-type dwarfism 2	RBBP8	RBBP8	https://raresource.nih.gov/literature/disease/0015399	0015399	606744		C1847572	C537534	RB binding protein 8, endonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 2"	None
Primary ciliary dyskinesia 2	cild2//ciliary dyskinesia, primary, 2, with or without situs inversus//ciliary dyskinesia, primary, type 2//dnaaf3 primary ciliary dyskinesia//primary ciliary dyskinesia 2 with or without situs inversus//primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in dnaaf3//primary ciliary dyskinesia type 2	DNAAF3	DNAAF3	https://raresource.nih.gov/literature/disease/0015400	0015400	606763		C1847554	C535277	dynein axonemal assembly factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 2"	None
Usher syndrome type 1G	ush1g//ush1g usher syndrome//usher syndrome caused by mutation in ush1g//usher syndrome type ig//usher syndrome, type ig, mild	USH1G	USH1G	https://raresource.nih.gov/literature/disease/0015404	0015404	606943		C1847089	C564643	USH1 protein network component sans	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1G"	5
Senior-Loken syndrome 4	nphp4 senior-loken syndrome//senior-loken syndrome caused by mutation in nphp4//senior-loken syndrome type 4//slsn4	NPHP4	NPHP4	https://raresource.nih.gov/literature/disease/0015406	0015406	606996		C1846979	C537581	nephrocystin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 4"	None
Moyamoya disease 2	moyamoya disease 2, susceptibility to//moyamoya disease caused by mutation in rnf213//moyamoya disease type 2//mymy2//rnf213 moyamoya disease	RNF213	RNF213	https://raresource.nih.gov/literature/disease/0015410	0015410	607151		C1846689	C536992	ring finger protein 213	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moyamoya disease 2"	1
Smith-McCort dysplasia 1	dym smith-mccort dysplasia//smc1//smith-mccort dwarfism//smith-mccort dysplasia caused by mutation in dym//smith-mccort dysplasia type 1	DYM	DYM	https://raresource.nih.gov/literature/disease/0015411	0015411	607326		C3888088		dymeclin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-McCort dysplasia 1"	1
Glucocorticoid deficiency 2	familial glucocorticoid deficiency 2//familial glucocorticoid deficiency caused by mutation in mrap//gccd2//glucocorticoid deficiency type 2//mrap familial glucocorticoid deficiency	MRAP	MRAP	https://raresource.nih.gov/literature/disease/0015412	0015412	607398		C4049714	C564577	melanocortin 2 receptor accessory protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid deficiency 2"	None
Dilated cardiomyopathy 1M	cardiomyopathy, dilated, type 1m//cmd1m//csrp3 familial isolated dilated cardiomyopathy//csrp3-related dilated cardiomyopathy//dilated cardiomyopathy type 1m//familial isolated dilated cardiomyopathy caused by mutation in csrp3	CSRP3	CSRP3	https://raresource.nih.gov/literature/disease/0015413	0015413	607482		C1843808	C564390	cysteine and glycine rich protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1M"	None
Atrial fibrillation, familial, 3	atfb3//atrial fibrillation, familial, type 3//familial atrial fibrillation caused by mutation in kcnq1//kcnq1 familial atrial fibrillation//kcnq1-related familial atrial fibrillation	KCNQ1	KCNQ1	https://raresource.nih.gov/literature/disease/0015414	0015414	607554		C1837014	C563817	potassium voltage-gated channel subfamily Q member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 3"	None
Pontocerebellar hypoplasia type 1A	non-syndromic pontocerebellar hypoplasia caused by mutation in vrk1//pch1a//pontocerebellar hypoplasia with anterior horn cell disease//pontocerebellar hypoplasia with infantile spinal muscular atrophy//vrk1 non-syndromic pontocerebellar hypoplasia	VRK1	VRK1	https://raresource.nih.gov/literature/disease/0015416	0015416	607596		C1843504		VRK serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 1A"	None
Ichthyosis, annular epidermolytic 1		KRT10	KRT10	https://raresource.nih.gov/literature/disease/0015417	0015417			CN324065		keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, annular epidermolytic 1"	None
Hypotrichosis-lymphedema-telangiectasia syndrome	hlts	SOX18	SOX18	https://raresource.nih.gov/literature/disease/0015420	0015420	607823		C1843004	C564327	SRY-box transcription factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis-lymphedema-telangiectasia syndrome"	16
Mitral valve prolapse, myxomatous 2	mitral valve prolapse 2//mmvp2	DCHS1	DCHS1	https://raresource.nih.gov/literature/disease/0015421	0015421	607829		C1843003	C564326	dachsous cadherin-related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitral valve prolapse, myxomatous 2"	None
Hypotrichosis 6	autosomal recessive localised hypotrichosis//autosomal recessive localized hypotrichosis//dsg4 hypotrichosis//hypotrichosis caused by mutation in dsg4//hypotrichosis type 6//hypotrichosis, localized, autosomal recessive 1//hypt6//lah1//localized autosomal recessive hypotrichosis//monilethrix-like hypotrichosis	DSG4	DSG4	https://raresource.nih.gov/literature/disease/0015423	0015423	607903		C1842839	C564312	desmoglein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 6"	6
Periventricular heterotopia with microcephaly, autosomal recessive	arphm//periventricular heterotopia with microcephaly//periventricular nodular heterotopia 2	ARFGEF2	ARFGEF2	https://raresource.nih.gov/literature/disease/0015424	0015424	608097		C1842563	C564292	ARF guanine nucleotide exchange factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular heterotopia with microcephaly, autosomal recessive"	None
Cone-rod dystrophy 13	cone-rod dystrophy caused by mutation in rpgrip1//cone-rod dystrophy type 13//cord13//rpgrip1 cone-rod dystrophy	RPGRIP1	RPGRIP1	https://raresource.nih.gov/literature/disease/0015426	0015426	608194		C2750720	C567698	RPGR interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 13"	1
Myosin storage myopathy	autosomal dominant myosin storage myopathy//cmyo7a//congenital myopathy 7a, myosin storage, autosomal dominant//msma//myh7-related late-onset scapuloperoneal muscular dystrophy//myh7-related late-onset scapuloperoneal syndrome//myh7-related late-onset spmd//myh7-related myosin storage myopathy//myh7-related scapuloperoneal myopathy//myopathy with lysis of type 1 myofibrils//myopathy with lysis of type i myofibrils//myopathy, hyaline body, autosomal dominant//myopathy, myosin storage, autosomal dominant//scapuloperoneal muscular dystrophy//scapuloperoneal myopathy, myh7-related//scapuloperoneal syndrome, myopathic type//spmd//spmm	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0015429	0015429	608358	636965	C1842160	C564253	myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myosin storage myopathy"	59
Branchiootic syndrome 3	bo syndrome 3//bos3//branchiootic syndrome caused by mutation in six1//branchiootic syndrome type 3//six1 branchiootic syndrome//six1-related branchiootorenal spectrum disorders	SIX1	SIX1	https://raresource.nih.gov/literature/disease/0015430	0015430	608389		C1842124	C564248	SIX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiootic syndrome 3"	3
Microcephaly 6, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cenpj//cenpj autosomal recessive primary microcephaly	CPAP	CPAP	https://raresource.nih.gov/literature/disease/0015431	0015431	608393		C1842109	C564247	centrosome assembly and centriole elongation protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 6, primary, autosomal recessive"	None
Dilated cardiomyopathy 1O	abcc9 familial isolated dilated cardiomyopathy//cardiomyopathy, dilated, type 1o//cardiomyopathy, dilated, with ventricular tachycardia//cmd1o//dilated cardiomyopathy type 1o//dilated cardiomyopathy with ventricular tachycardia//familial isolated dilated cardiomyopathy caused by mutation in abcc9	ABCC9	ABCC9	https://raresource.nih.gov/literature/disease/0015434	0015434	608569		C1837839	C563906	ATP binding cassette subfamily C member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1O"	1
Joubert syndrome 3	ahi1 joubert syndrome//ahi1-related ciliopathy//ahi1-related joubert syndrome//jbts3//joubert syndrome caused by mutation in ahi1//joubert syndrome type 3	AHI1	AHI1	https://raresource.nih.gov/literature/disease/0015435	0015435	608629		C1837713	C536295	Abelson helper integration site 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 3"	1
Primary ciliary dyskinesia 3	cild3//ciliary dyskinesia, primary, type 3//dnah5 primary ciliary dyskinesia//primary ciliary dyskinesia 3 with or without situs inversus//primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in dnah5//primary ciliary dyskinesia type 3	DNAH5	DNAH5	https://raresource.nih.gov/literature/disease/0015436	0015436	608644		C1837618	C535278	dynein axonemal heavy chain 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 3"	None
Primary ciliary dyskinesia 5	cild5//ciliary dyskinesia, primary, 5, without situs inversus//ciliary dyskinesia, primary, type 5//hydin primary ciliary dyskinesia//primary ciliary dyskinesia 5 without situs inversus//primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in hydin//primary ciliary dyskinesia type 5	HYDIN	HYDIN	https://raresource.nih.gov/literature/disease/0015438	0015438	608647		C1837615	C563886	HYDIN axonemal central pair apparatus protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 5"	None
Microcephaly 5, primary, autosomal recessive	aspm autosomal recessive primary microcephaly//autosomal recessive primary microcephaly caused by mutation in aspm//mcph5	ASPM	ASPM	https://raresource.nih.gov/literature/disease/0015441	0015441	608716		C1837501	C563871	assembly factor for spindle microtubules	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 5, primary, autosomal recessive"	8
Myasthenic syndrome, congenital, 1B, fast-channel	cms1b//congenital myasthenic syndrome 1b, fast-channel//congenital myasthenic syndrome type 1b//fast-channel congenital myasthenia syndrome	CHRNA1	CHRNA1	https://raresource.nih.gov/literature/disease/0015445	0015445	608930		C4225405		cholinergic receptor nicotinic alpha 1 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 1B, fast-channel"	1
Fanconi anemia complementation group I	fanci//fanconi anaemia complementation group type i//fanconi anemia complementation group type i//fanconi anemia, complementation group type 1	FANCI	FANCI	https://raresource.nih.gov/literature/disease/0015448	0015448	609053		C1836861	C563802	FA complementation group I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group I"	None
Fanconi anemia complementation group J	brip1-related fanconi anemia//fancj//fanconi anaemia complementation group type j//fanconi anemia complementation group type j//fanconi anemia, complementation group type j	BRIP1	BRIP1	https://raresource.nih.gov/literature/disease/0015449	0015449	609054		C1836860	C563801	BRCA1 interacting DNA helicase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group J"	3
Senior-Loken syndrome 5	iqcb1 senior-loken syndrome//senior-loken syndrome caused by mutation in iqcb1//senior-loken syndrome type 5//slsn5	IQCB1	IQCB1	https://raresource.nih.gov/literature/disease/0015451	0015451	609254		C1836517	C563763	IQ motif containing B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 5"	1
Nemaline myopathy 6	kbtbd13 nemaline myopathy//nem6//nemaline myopathy 6, autosomal dominant//nemaline myopathy caused by mutation in kbtbd13//nemaline myopathy type 6	KBTBD13	KBTBD13	https://raresource.nih.gov/literature/disease/0015452	0015452	609273		C1836472	C538398	kelch repeat and BTB domain containing 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 6"	9
Congenital myopathy 4B, autosomal recessive	nemaline myopathy 1, autosomal dominant or recessive//nemaline myopathy caused by mutation in tpm3//tpm3 nemaline myopathy	TPM3	TPM3	https://raresource.nih.gov/literature/disease/0015453	0015453	609284		C5829889	C538348	tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 4B, autosomal recessive"	1
Congenital myopathy 23	cap myopathy 2//capm2//cmyo23//nem4//nemaline myopathy 4//nemaline myopathy 4, autosomal dominant//nemaline myopathy caused by mutation in tpm2//nemaline myopathy type 4//tpm2 nemaline myopathy	TPM2	TPM2	https://raresource.nih.gov/literature/disease/0015454	0015454	609285		C1836447	C538351	tropomyosin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 23"	1
Developmental and epileptic encephalopathy, 3	dee3//early infantile epileptic encephalopathy caused by mutation in slc25a22//eiee3//epileptic encephalopathy, early infantile, 3//epileptic encephalopathy, early infantile, type 3//slc25a22 early infantile epileptic encephalopathy	SLC25A22	SLC25A22	https://raresource.nih.gov/literature/disease/0015456	0015456	609304		C5574665		solute carrier family 25 member 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 3"	None
Colorectal cancer, hereditary nonpolyposis, type 2	colon cancer, familial nonpolyposis, type 2//familial non-polyposis colon cancer type 2//hereditary non-polyposis colon cancer type 2//hereditary non-polyposis colorectal cancer, type 2//hereditary nonpolyposis colorectal cancer type 2//lynch 2 syndrome//lynch syndrome 2//lynch syndrome ii//lynch2//mlh1-related lynch syndrome	MLH1	MLH1	https://raresource.nih.gov/literature/disease/0015457	0015457	609310		C1333991	D055847	mutL homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colorectal cancer, hereditary nonpolyposis, type 2"	9
Stickler syndrome, type I, nonsyndromic ocular	stickler syndrome, atypical//stickler syndrome, type i, predominantly ocular	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0015461	0015461	609508		C1836080	C563709	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome, type I, nonsyndromic ocular"	None
Dilated cardiomyopathy 1P	cardiomyopathy, dilated, 1p//cardiomyopathy, dilated, type 1p//cmd1p//dilated cardiomyopathy type 1p//familial isolated dilated cardiomyopathy caused by mutation in pln//pln familial isolated dilated cardiomyopathy//pln-related dilated cardiomyopathy	PLN	PLN	https://raresource.nih.gov/literature/disease/0015469	0015469	609909		C1835928	C563690	phospholamban	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1P"	None
Microphthalmia, isolated, with coloboma 3	mcopcb3//microphthalmia with coloboma 3//microphthalmia, colobomatous, 3//microphthalmia, isolated, with coloboma caused by mutation in vsx2//microphthalmia, isolated, with coloboma type 3//microphthalmia/coloboma 3//vsx2 microphthalmia, isolated, with coloboma	VSX2	VSX2	https://raresource.nih.gov/literature/disease/0015471	0015471	610092		C1864721	C566447	visual system homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma 3"	None
Aicardi-Goutieres syndrome 2	aicardi-goutieres syndrome caused by mutation in rnaseh2b//aicardi-goutieres syndrome type 2//rnaseh2b aicardi-goutieres syndrome	RNASEH2B	RNASEH2B	https://raresource.nih.gov/literature/disease/0015472	0015472	610181		C3489724		ribonuclease H2 subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 2"	None
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	camrq2//cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2//cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2//cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2//cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2//dysequilibrium syndrome caused by mutation in wdr81//wdr81 dysequilibrium syndrome	WDR81	WDR81	https://raresource.nih.gov/literature/disease/0015473	0015473	610185		C2750234	C567656	WD repeat domain 81	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2"	3
Diaphragmatic hernia 3	congenital diaphragmatic hernia caused by mutation in zfpm2//diaphragmatic hernia type 3//dih3//zfpm2 congenital diaphragmatic hernia	ZFPM2	ZFPM2	https://raresource.nih.gov/literature/disease/0015474	0015474	610187		C1857781	C565710	zinc finger protein, FOG family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diaphragmatic hernia 3"	None
Joubert syndrome 5	cep290 joubert syndrome//cep290-related joubert syndrome//jbts5//joubert syndrome caused by mutation in cep290//joubert syndrome type 5	CEP290	CEP290	https://raresource.nih.gov/literature/disease/0015475	0015475	610188		C1857780	C537688	centrosomal protein 290	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 5"	None
Senior-Loken syndrome 6	cep290 senior-loken syndrome//senior-loken syndrome caused by mutation in cep290//senior-loken syndrome type 6//slsn6	CEP290	CEP290	https://raresource.nih.gov/literature/disease/0015476	0015476	610189		C1857779	C565708	centrosomal protein 290	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 6"	None
Cone-rod dystrophy 10	cone-rod dystrophy caused by mutation in sema4a//cone-rod dystrophy type 10//cord10//sema4a cone-rod dystrophy	SEMA4A	SEMA4A	https://raresource.nih.gov/literature/disease/0015477	0015477	610283		C1846529	C564597	semaphorin 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 10"	None
Aicardi-Goutieres syndrome 3	aicardi-goutieres syndrome caused by mutation in rnaseh2c//aicardi-goutieres syndrome type 3//rnaseh2c aicardi-goutieres syndrome	RNASEH2C	RNASEH2C	https://raresource.nih.gov/literature/disease/0015479	0015479	610329		C1835916	C563683	ribonuclease H2 subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 3"	None
Aicardi-Goutieres syndrome 4	aicardi-goutieres syndrome caused by mutation in rnaseh2a//aicardi-goutieres syndrome type 4//rnaseh2a aicardi-goutieres syndrome	RNASEH2A	RNASEH2A	https://raresource.nih.gov/literature/disease/0015480	0015480	610333		C1835912	C563681	ribonuclease H2 subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 4"	None
Autosomal dominant nocturnal frontal lobe epilepsy 4	autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in chrna2//autosomal dominant nocturnal frontal lobe epilepsy type 4//chrna2 autosomal dominant nocturnal frontal lobe epilepsy//chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant//enfl4//epilepsy, familial, with nocturnal wandering and ictal fear//epilepsy, nocturnal frontal lobe, type 4//nocturnal frontal lobe epilepsy 4	CHRNA2	CHRNA2	https://raresource.nih.gov/literature/disease/0015481	0015481	610353		C1835905	C563679	cholinergic receptor nicotinic alpha 2 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nocturnal frontal lobe epilepsy 4"	None
Diabetes mellitus, transient neonatal, 2	abcc8 transient neonatal diabetes mellitus (disease)//abcc8-related transient neonatal diabetes mellitus 2//diabetes mellitus, transient neonatal, type 2//tndm2//transient neonatal diabetes mellitus (disease) caused by mutation in abcc8	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0015482	0015482	610374		C1835887	C563672	ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, transient neonatal, 2"	None
Cone-rod dystrophy 11	cone-rod dystrophy caused by mutation in rax2//cone-rod dystrophy type 11//cord11//rax2 cone-rod dystrophy	RAX2	RAX2	https://raresource.nih.gov/literature/disease/0015484	0015484	610381		C1835865	C563671	retina and anterior neural fold homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 11"	None
Cone-rod synaptic disorder, congenital nonprogressive	night blindness, congenital stationary, incomplete, autosomal recessive	CABP4	CABP4	https://raresource.nih.gov/literature/disease/0015485	0015485	610427		C4041558		calcium binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod synaptic disorder, congenital nonprogressive"	None
Congenital stationary night blindness autosomal dominant 3	congenital stationary night blindness autosomal dominant type 3//csnbad3//night blindness, congenital stationary, autosomal dominant type 3//night blindness, congenital stationary, nougaret type//nougaret type congenital stationary night blindness	GNAT1	GNAT1	https://raresource.nih.gov/literature/disease/0015487	0015487	610444		C1864870	C566475	G protein subunit alpha transducin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness autosomal dominant 3"	1
Congenital stationary night blindness autosomal dominant 1	congenital stationary night blindness autosomal dominant type 1//congenital stationary night blindness caused by mutation in rho//csnbad1//night blindness, congenital stationary, autosomal dominant type 1//night blindness, congenital stationary, rhodopsin-related//rho congenital stationary night blindness//rhodopsin-related congenital stationary night blindness	RHO	RHO	https://raresource.nih.gov/literature/disease/0015488	0015488	610445		C1864869	C566474	rhodopsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness autosomal dominant 1"	None
Pigmented nodular adrenocortical disease, primary, 2	cushing syndrome, adrenal, due to ppnad2//pde11a primary pigmented nodular adrenocortical disease//pigmented micronodular adrenocortical disease, primary, 2//pigmented nodular adrenocortical disease, primary, type 2//ppnad2//primary pigmented nodular adrenocortical disease caused by mutation in pde11a	PDE11A	PDE11A	https://raresource.nih.gov/literature/disease/0015489	0015489	610475		C1864851	C566472	phosphodiesterase 11A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmented nodular adrenocortical disease, primary, 2"	None
Diabetes mellitus, transient neonatal, 3	diabetes mellitus, kcnj11-related transient neonatal//diabetes mellitus, transient neonatal, type 3//kcnj11 transient neonatal diabetes mellitus (disease)//tndm3//transient neonatal diabetes mellitus (disease) caused by mutation in kcnj11	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0015490	0015490	610582		C1864623	C566432	potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, transient neonatal, 3"	None
Nemaline myopathy 7	cfl2 nemaline myopathy//nem7//nemaline myopathy 7, autosomal recessive//nemaline myopathy caused by mutation in cfl2//nemaline myopathy type 7	CFL2	CFL2	https://raresource.nih.gov/literature/disease/0015493	0015493	610687		C1853154	C565198	cofilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 7"	None
Joubert syndrome 6	jbts6//joubert syndrome caused by mutation in tmem67//joubert syndrome type 6//tmem67 joubert syndrome//tmem67-related joubert syndrome	TMEM67	TMEM67	https://raresource.nih.gov/literature/disease/0015494	0015494	610688		C1853153	C537689	transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 6"	2
Nephrotic syndrome, type 3	nephrotic syndrome caused by mutation in plce1//nephrotic syndrome, early-onset, type 3//nphs3//plce1 nephrotic syndrome	PLCE1	PLCE1	https://raresource.nih.gov/literature/disease/0015495	0015495	610725		C1853124		phospholipase C epsilon 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 3"	2
Cerebrooculofacioskeletal syndrome 2	cerebrooculofacioskeletal syndrome type 2//cofs syndrome caused by mutation in ercc2//cofs2//ercc2 cofs syndrome	ERCC2	ERCC2	https://raresource.nih.gov/literature/disease/0015497	0015497	610756		C1853102	C565185	ERCC excision repair 2, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrooculofacioskeletal syndrome 2"	None
Cerebrooculofacioskeletal syndrome 4	cerebrooculofacioskeletal syndrome type 4//cofs syndrome caused by mutation in ercc1//cofs4//ercc1 cofs syndrome	ERCC1	ERCC1	https://raresource.nih.gov/literature/disease/0015498	0015498	610758		C1853100	C565184	ERCC excision repair 1, endonuclease non-catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrooculofacioskeletal syndrome 4"	None
Cornelia de Lange syndrome 3	cdls3//cornelia de lange syndrome 3 with or without midline brain defects//cornelia de lange syndrome caused by mutation in smc3//cornelia de lange syndrome type 3//smc3 cornelia de lange syndrome//smc3-related cornelia de lange syndrome	SMC3	SMC3	https://raresource.nih.gov/literature/disease/0015499	0015499	610759		C1853099		structural maintenance of chromosomes 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornelia de Lange syndrome 3"	2
Fanconi anemia complementation group N	fancn//fanconi anaemia caused by mutation in palb2//fanconi anaemia complementation group type n//fanconi anemia caused by mutation in palb2//fanconi anemia complementation group type n//fanconi anemia, complementation group type n//palb2 fanconi anaemia//palb2 fanconi anemia//palb2-related fanconi anemia	PALB2	PALB2	https://raresource.nih.gov/literature/disease/0015500	0015500	610832		C1835817	C563657	partner and localizer of BRCA2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group N"	None
Mitral valve prolapse, myxomatous 3	mitral valve prolapse 3//mmvp3	DZIP1	DZIP1	https://raresource.nih.gov/literature/disease/0015501	0015501	610840		C1835814	C563655	DAZ interacting zinc finger protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitral valve prolapse, myxomatous 3"	None
Primary ciliary dyskinesia 6	cild6//ciliary dyskinesia, primary, type 6//nme8 primary ciliary dyskinesia//primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia//primary ciliary dyskinesia 6: txndc3-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in nme8//primary ciliary dyskinesia type 6	NME8	NME8	https://raresource.nih.gov/literature/disease/0015502	0015502	610852		C1970506	C567057	NME/NM23 family member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 6"	None
Branchiootorenal syndrome 2	bor2//branchio-oto-renal syndrome caused by mutation in six5//branchiootorenal syndrome type 2//six5 branchio-oto-renal syndrome	SIX5	SIX5	https://raresource.nih.gov/literature/disease/0015503	0015503	610896		C1970479		SIX homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiootorenal syndrome 2"	1
Prostate cancer, hereditary, 9	hpc9//prostate cancer, hereditary, type 9	HOXB13	HOXB13	https://raresource.nih.gov/literature/disease/0015505	0015505	610997		C1970250	C567031	homeobox B13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prostate cancer, hereditary, 9"	None
Retinitis pigmentosa 37	nr2e3 retinitis pigmentosa//retinitis pigmentosa caused by mutation in nr2e3//retinitis pigmentosa type 37//rp37	NR2E3	NR2E3	https://raresource.nih.gov/literature/disease/0015508	0015508	611131		C1970163	C567005	nuclear receptor subfamily 2 group E member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 37"	1
Meckel syndrome, type 4	cep290 meckel syndrome//cep290-related meckel syndrome//meckel syndrome caused by mutation in cep290//meckel-gruber syndrome, type 4//mks4	CEP290	CEP290	https://raresource.nih.gov/literature/disease/0015509	0015509	611134		C1970161		centrosomal protein 290	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 4"	None
Asphyxiating thoracic dystrophy 2	asphyxiating thoracic dystrophy type 2//atd2//ift80 jeune syndrome//jeune syndrome caused by mutation in ift80//short-rib thoracic dysplasia 2 with or without polydactyly//short-rib thoracic dysplasia 2 with polydactyly//short-rib thoracic dysplasia 2 without polydactyly//srtd2	IFT80	IFT80	https://raresource.nih.gov/literature/disease/0015511	0015511	611263		C1970005	C566982	intraflagellar transport 80	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Asphyxiating thoracic dystrophy 2"	None
Atrial septal defect 4	asd4//atrial heart septal defect caused by mutation in tbx20//atrial heart septal defect type 4//atrial septal defect type 4//tbx20 atrial heart septal defect	TBX20	TBX20	https://raresource.nih.gov/literature/disease/0015512	0015512	611363		C1969657	C566963	T-box transcription factor 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 4"	None
Usher syndrome type 2D	ush2d//usher syndrome caused by mutation in whrn//usher syndrome type iid//usher syndrome, type iid//whrn usher syndrome	WHRN	WHRN	https://raresource.nih.gov/literature/disease/0015514	0015514	611383		C1568249		whirlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 2D"	4
Dilated cardiomyopathy 1W	cardiomyopathy, dilated, type 1w//cmd1w//dilated cardiomyopathy type 1w//familial isolated dilated cardiomyopathy caused by mutation in vcl//vcl familial isolated dilated cardiomyopathy//vcl-related dilated cardiomyopathy	VCL	VCL	https://raresource.nih.gov/literature/disease/0015515	0015515	611407		C1969639	C566954	vinculin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1W"	None
Atrial fibrillation, familial, 4	atfb4//atrial fibrillation, familial, type 4//familial atrial fibrillation caused by mutation in kcne2//kcne2 familial atrial fibrillation//kcne2-related familial atrial fibrillation	KCNE2	KCNE2	https://raresource.nih.gov/literature/disease/0015516	0015516	611493		C1862394	C566244	potassium voltage-gated channel subfamily E regulatory subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 4"	None
LEOPARD syndrome 2	leopard syndrome type 2//lprd2//raf1-related leopard syndrome	RAF1	RAF1	https://raresource.nih.gov/literature/disease/0015518	0015518	611554		C1969056	C537117	Raf-1 proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LEOPARD syndrome 2"	1
Joubert syndrome 7	jbts7//joubert syndrome caused by mutation in rpgrip1l//joubert syndrome type 7//rpgrip1l joubert syndrome//rpgrip1l-related joubert syndrome	RPGRIP1L	RPGRIP1L	https://raresource.nih.gov/literature/disease/0015519	0015519	611560		C1969053	C566916	RPGRIP1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 7"	None
Meckel syndrome, type 5	meckel syndrome caused by mutation in rpgrip1l//meckel-gruber syndrome, type 5//mks5//rpgrip1l meckel syndrome//rpgrip1l-related meckel syndrome	RPGRIP1L	RPGRIP1L	https://raresource.nih.gov/literature/disease/0015520	0015520	611561		C1969052	C566915	RPGRIP1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 5"	1
Waardenburg syndrome type 2E	hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation//hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation//sox10 waardenburg syndrome type 2//waardenburg syndrome type 2 caused by mutation in sox10//waardenburg syndrome type 2e with or without neurologic involvement//waardenburg syndrome type iie//waardenburg syndrome, type 2e, with or without neurologic involvement//ws2e//ws2e with or without neurological involvement//ws2e, with or without neurologic involvement	SOX10	SOX10	https://raresource.nih.gov/literature/disease/0015521	0015521	611584		C2700405		SRY-box transcription factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 2E"	2
Dilated cardiomyopathy 1X	cardiomyopathy, dilated, type 1x//cardiomyopathy, dilated, with mild or no proximal muscle weakness//cmd1x//dilated cardiomyopathy type 1x//dilated cardiomyopathy with mild or no proximal muscle weakness//familial isolated dilated cardiomyopathy caused by mutation in fktn//fktn familial isolated dilated cardiomyopathy//fktn-related dilated cardiomyopathy	FKTN	FKTN	https://raresource.nih.gov/literature/disease/0015522	0015522	611615		C1969024	C566907	fukutin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1X"	1
Microphthalmia, isolated, with coloboma 5	mcopcb5//microphthalmia with coloboma 5//microphthalmia, isolated, with coloboma caused by mutation in shh//microphthalmia, isolated, with coloboma type 5//microphthalmia/coloboma 5//shh microphthalmia, isolated, with coloboma	SHH	SHH	https://raresource.nih.gov/literature/disease/0015524	0015524	611638		C1968843	C566899	sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma 5"	None
Brugada syndrome 2	brgda2//brugada syndrome caused by mutation in gpd1l//brugada syndrome type 2//gpd1l brugada syndrome	GPD1L	GPD1L	https://raresource.nih.gov/literature/disease/0015526	0015526	611777		C2673193	C567087	glycerol-3-phosphate dehydrogenase 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 2"	1
Aortic aneurysm, familial thoracic 6	aat6//acta2 familial thoracic aortic aneurysm and aortic dissection//acta2-related thoracic aortic aneurysms and aortic dissections//aortic aneurysm, familial thoracic type 6//familial thoracic aortic aneurysm and aortic dissection caused by mutation in acta2//familial thoracic aortic aneurysm with livedo reticularis and iris flocculi	ACTA2	ACTA2	https://raresource.nih.gov/literature/disease/0015527	0015527	611788		C2673186	C567085	actin alpha 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 6"	None
Elliptocytosis 1	4.1- trait//4.1-minus trait//el1//elliptocytosis type 1//elliptocytosis, rhesus-linked type//epb41 hereditary elliptocytosis//hereditary elliptocytosis caused by mutation in epb41//protein 4.1 of erythrocyte membrane, defect of	EPB41	EPB41	https://raresource.nih.gov/literature/disease/0015528	0015528	611804		C2678497	C567520	erythrocyte membrane protein band 4.1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Elliptocytosis 1"	None
Prostate cancer, hereditary, 12	ehbp1 familial prostate cancer//familial prostate cancer caused by mutation in ehbp1//hpc12//prostate cancer, hereditary, type 12	EHBP1	EHBP1	https://raresource.nih.gov/literature/disease/0015529	0015529	611868		C2678479	C567510	EH domain binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prostate cancer, hereditary, 12"	None
Dilated cardiomyopathy 1Y	cardiomyopathy, dilated, type 1y//cmd1y//dilated cardiomyopathy type 1y//familial isolated dilated cardiomyopathy caused by mutation in tpm1//tpm1 familial isolated dilated cardiomyopathy//tpm1-related dilated cardiomyopathy	TPM1	TPM1	https://raresource.nih.gov/literature/disease/0015530	0015530	611878		C2678476	C567507	tropomyosin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1Y"	None
Dilated cardiomyopathy 1Z	cardiomyopathy, dilated, type 1z//cmd1z//dilated cardiomyopathy type 1z//familial isolated dilated cardiomyopathy caused by mutation in tnnc1//tnnc1 familial isolated dilated cardiomyopathy//tnnc1-related dilated cardiomyopathy	TNNC1	TNNC1	https://raresource.nih.gov/literature/disease/0015531	0015531	611879		C2678475	C567506	troponin C1, slow skeletal and cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1Z"	None
Dilated cardiomyopathy 2A	cardiomyopathy, congestive, autosomal recessive//cardiomyopathy, dilated, autosomal recessive//cardiomyopathy, dilated, type 2a//cmd2a//dilated cardiomyopathy type 2a//tnni3-related dilated cardiomyopathy	TNNI3	TNNI3	https://raresource.nih.gov/literature/disease/0015532	0015532	611880		C2678474		troponin I3, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 2A"	1
Primary ciliary dyskinesia 7	cild7//ciliary dyskinesia, primary, 7, with or without situs inversus//ciliary dyskinesia, primary, type 7//dnah11 primary ciliary dyskinesia//primary ciliary dyskinesia 7 with or without situs inversus//primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in dnah11//primary ciliary dyskinesia type 7	DNAH11	DNAH11	https://raresource.nih.gov/literature/disease/0015533	0015533	611884		C2678473	C567504	dynein axonemal heavy chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 7"	None
Prostate cancer, hereditary, 13	familial prostate cancer caused by mutation in msmb//hpc13//msmb familial prostate cancer//prostate cancer, hereditary, type 13	MSMB	MSMB	https://raresource.nih.gov/literature/disease/0015534	0015534	611928		C2677821	C567456	microseminoprotein beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prostate cancer, hereditary, 13"	None
Catecholaminergic polymorphic ventricular tachycardia 2	casq2 catecholaminergic polymorphic ventricular tachycardia//casq2-related catecholaminergic polymorphic ventricular tachycardia//catecholaminergic polymorphic ventricular tachycardia caused by mutation in casq2//catecholaminergic polymorphic ventricular tachycardia type 2//cvpt2//ventricular tachycardia, catecholaminergic polymorphic, type 2//ventricular tachycardia, stress-induced polymorphic 2	CASQ2	CASQ2	https://raresource.nih.gov/literature/disease/0015535	0015535	611938		C2677794		calsequestrin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia 2"	4
Amyotrophic lateral sclerosis type 10	als10//als10 - amyotrophic lateral sclerosis type 10//amyotrophic lateral sclerosis 10//amyotrophic lateral sclerosis 10 with or without frontotemporal dementia//amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions//amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions//amyotrophic lateral sclerosis 10, with or without frontotemporal dementia//amyotrophic lateral sclerosis 10, with or without ftd//amyotrophic lateral sclerosis caused by mutation in tardbp//frontotemporal lobar degeneration, tardbp-related//tardbp amyotrophic lateral sclerosis//tardbp-related amyotrophic lateral sclerosis//tardbp-related frontotemporal lobar degeneration with tdp43 inclusions	TARDBP	TARDBP	https://raresource.nih.gov/literature/disease/0015540	0015540	612069		C2677565	C567429	TAR DNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 10"	None
Hypouricemia, renal, 2	hypouricemia, renal, 2, autosomal dominant//hypouricemia, renal, 2, autosomal recessive//hypouricemia, renal, type 2//uric acid concentration, serum, qtl 2	SLC2A9	SLC2A9	https://raresource.nih.gov/literature/disease/0015541	0015541	612076		C2677549	C567426	solute carrier family 2 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypouricemia, renal, 2"	None
Ectodermal dysplasia and immunodeficiency 2	ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency//ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant//epaid2	NFKBIA	NFKBIA	https://raresource.nih.gov/literature/disease/0015542	0015542	612132		C2677481	C567411	NFKB inhibitor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia and immunodeficiency 2"	None
Dilated cardiomyopathy 1AA	actn2 familial isolated dilated cardiomyopathy//actn2-related dilated cardiomyopathy//cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction//cardiomyopathy, dilated, 1aa, with or without lvnc//cardiomyopathy, familial hypertrophic, 23, with or without left ventricular noncompaction//cardiomyopathy, hypertrophic, 23, with or without lvnc//cmd1aa//dilated cardiomyopathy 1aa with or without left ventricular noncompaction//dilated cardiomyopathy type 1aa//familial isolated dilated cardiomyopathy caused by mutation in actn2	ACTN2	ACTN2	https://raresource.nih.gov/literature/disease/0015543	0015543	612158		C2677338	C567407	actinin alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1AA"	None
Atrial fibrillation, familial, 6	atfb6//atrial fibrillation, familial, type 6//familial atrial fibrillation caused by mutation in nppa//nppa familial atrial fibrillation	NPPA	NPPA	https://raresource.nih.gov/literature/disease/0015544	0015544	612201		C2677294	C567400	natriuretic peptide A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 6"	None
Atrial fibrillation, familial, 7	atfb7//atrial fibrillation, familial, type 7//familial atrial fibrillation caused by mutation in kcna5//kcna5 familial atrial fibrillation//kcna5-related familial atrial fibrillation	KCNA5	KCNA5	https://raresource.nih.gov/literature/disease/0015545	0015545	612240		C2677106	C567389	potassium voltage-gated channel subfamily A member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 7"	None
Autosomal recessive congenital ichthyosis 6	arci6//autosomal recessive congenital ichthyosis type 6//ichthyosis, congenital, autosomal recessive type 6	NIPAL4	NIPAL4	https://raresource.nih.gov/literature/disease/0015547	0015547	612281		C2677065		NIPA like domain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 6"	None
Meckel syndrome, type 6	cc2d2a meckel syndrome//cc2d2a-related meckel syndrome//meckel syndrome caused by mutation in cc2d2a//meckel-gruber syndrome, type 6//mks6	CC2D2A	CC2D2A	https://raresource.nih.gov/literature/disease/0015548	0015548	612284		C2676790	C567365	coiled-coil and C2 domain containing 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 6"	None
Joubert syndrome 9	cc2d2a joubert syndrome//cc2d2a-related joubert syndrome//jbts9//joubert syndrome caused by mutation in cc2d2a//joubert syndrome type 9	CC2D2A	CC2D2A	https://raresource.nih.gov/literature/disease/0015549	0015549	612285		C2676788	C567364	coiled-coil and C2 domain containing 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 9"	3
Joubert syndrome 8	arl13b joubert syndrome//arl13b-related joubert syndrome//jbts8//joubert syndrome caused by mutation in arl13b//joubert syndrome type 8	ARL13B	ARL13B	https://raresource.nih.gov/literature/disease/0015550	0015550	612291		C2676771	C567358	ARF like GTPase 13B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 8"	None
Pontocerebellar hypoplasia type 2B	non-syndromic pontocerebellar hypoplasia caused by mutation in tsen2//pch2b//tsen2 non-syndromic pontocerebellar hypoplasia//tsen2-related pontocerebellar hypoplasia	TSEN2	TSEN2	https://raresource.nih.gov/literature/disease/0015553	0015553	612389		C2676466	C567325	tRNA splicing endonuclease subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2B"	1
Pontocerebellar hypoplasia type 2C	non-syndromic pontocerebellar hypoplasia caused by mutation in tsen34//pch2c//tsen34 non-syndromic pontocerebellar hypoplasia//tsen34-related pontocerebellar hypoplasia	TSEN34	TSEN34	https://raresource.nih.gov/literature/disease/0015554	0015554	612390		C2676465	C567324	tRNA splicing endonuclease subunit 34	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2C"	None
Epilepsy, progressive myoclonic, 1B	epilepsy, progressive myoclonic, type 1b//pme//prickle1 progressive myoclonic epilepsy//prickle1-related progressive myoclonic epilepsy with ataxia//progressive myoclonic epilepsy 1b//progressive myoclonic epilepsy caused by mutation in prickle1//progressive myoclonus epilepsy with ataxia	PRICKLE1	PRICKLE1	https://raresource.nih.gov/literature/disease/0015556	0015556	612437		C2676254	C580388	prickle planar cell polarity protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, progressive myoclonic, 1B"	344
Primary ciliary dyskinesia 9	cild9//ciliary dyskinesia, primary, 9, with or without situs inversus//ciliary dyskinesia, primary, type 9//dnai2 primary ciliary dyskinesia//primary ciliary dyskinesia 9 with or without situs inversus//primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in dnai2//primary ciliary dyskinesia type 9	DNAI2	DNAI2	https://raresource.nih.gov/literature/disease/0015558	0015558	612444		C2676235	C567310	dynein axonemal intermediate chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 9"	None
Primary ciliary dyskinesia 10	cild10//ciliary dyskinesia, primary, 10, with or without situs inversus//ciliary dyskinesia, primary, type 10//dnaaf2 primary ciliary dyskinesia//primary ciliary dyskinesia 10 with or without situs inversus//primary ciliary dyskinesia caused by mutation in dnaaf2//primary ciliary dyskinesia type 10//primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia	DNAAF2	DNAAF2	https://raresource.nih.gov/literature/disease/0015560	0015560	612518		C2675867	C567287	dynein axonemal assembly factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 10"	None
Diamond-Blackfan anemia 4	dba4//diamond-blackfan anaemia caused by mutation in rps17//diamond-blackfan anaemia type 4//diamond-blackfan anemia caused by mutation in rps17//diamond-blackfan anemia type 4//rps17 diamond-blackfan anaemia//rps17 diamond-blackfan anemia//rps17-related diamond-blackfan anemia	RPS17	RPS17	https://raresource.nih.gov/literature/disease/0015561	0015561	612527		C2675860	C567281	ribosomal protein S17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 4"	None
Diamond-Blackfan anemia 5	dba5//diamond-blackfan anaemia caused by mutation in rpl35a//diamond-blackfan anaemia type 5//diamond-blackfan anemia caused by mutation in rpl35a//diamond-blackfan anemia type 5//rpl35a diamond-blackfan anaemia//rpl35a diamond-blackfan anemia//rpl35a-related diamond-blackfan anemia	RPL35A	RPL35A	https://raresource.nih.gov/literature/disease/0015562	0015562	612528		C2675859	C567280	ribosomal protein L35a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 5"	None
Amelogenesis imperfecta hypomaturation type 2A2	ai2a2//amelogenesis imperfecta caused by mutation in mmp20//amelogenesis imperfecta hypomaturation type iia2//amelogenesis imperfecta pigmented hypomaturation type 2//amelogenesis imperfecta type iia2//amelogenesis imperfecta, hypomaturation type, iia2//amelogenesis imperfecta, pigmented hypomaturation type, 2//amelogenesis imperfecta, type iia2//mmp20 amelogenesis imperfecta	MMP20	MMP20	https://raresource.nih.gov/literature/disease/0015563	0015563	612529		C2675858	C567279	matrix metallopeptidase 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta hypomaturation type 2A2"	1
Diamond-Blackfan anemia 6	dba6//diamond-blackfan anaemia caused by mutation in rpl5//diamond-blackfan anaemia type 6//diamond-blackfan anemia caused by mutation in rpl5//diamond-blackfan anemia type 6//rpl5 diamond-blackfan anaemia//rpl5 diamond-blackfan anemia//rpl5-related diamond-blackfan anemia	RPL5	RPL5	https://raresource.nih.gov/literature/disease/0015568	0015568	612561		C2931850	C538442	ribosomal protein L5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 6"	None
Diamond-Blackfan anemia 7	dba7//diamond-blackfan anaemia caused by mutation in rpl11//diamond-blackfan anaemia type 7//diamond-blackfan anemia caused by mutation in rpl11//diamond-blackfan anemia type 7//rpl11 diamond-blackfan anaemia//rpl11 diamond-blackfan anemia//rpl11-related diamond-blackfan anemia	RPL11	RPL11	https://raresource.nih.gov/literature/disease/0015569	0015569	612562		C2675512	C567254	ribosomal protein L11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 7"	1
Diamond-Blackfan anemia 8	dba8//diamond-blackfan anaemia caused by mutation in rps7//diamond-blackfan anaemia type 8//diamond-blackfan anemia caused by mutation in rps7//diamond-blackfan anemia type 8//rps7 diamond-blackfan anaemia//rps7 diamond-blackfan anemia//rps7-related diamond-blackfan anemia	RPS7	RPS7	https://raresource.nih.gov/literature/disease/0015570	0015570	612563		C2675511	C567253	ribosomal protein S7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 8"	None
Retinitis pigmentosa 46	idh3b retinitis pigmentosa//retinitis pigmentosa caused by mutation in idh3b//retinitis pigmentosa type 46//retinitis pigmentosa, autosomal recessive, idh3b-related//rp46	IDH3B	IDH3B	https://raresource.nih.gov/literature/disease/0015571	0015571	612572		C2675496	C567249	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 46"	None
Primary ciliary dyskinesia 11	cild11//ciliary dyskinesia, primary, 11, without situs inversus//ciliary dyskinesia, primary, type 11//primary ciliary dyskinesia 11 without situs inversus//primary ciliary dyskinesia caused by mutation in rsph4a//primary ciliary dyskinesia type 11//primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia//rsph4a primary ciliary dyskinesia	RSPH4A	RSPH4A	https://raresource.nih.gov/literature/disease/0015574	0015574	612649		C2675229	C567212	radial spoke head component 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 11"	None
Primary ciliary dyskinesia 12	cild12//ciliary dyskinesia, primary, 12, without situs inversus//ciliary dyskinesia, primary, type 12//primary ciliary dyskinesia 12 without situs inversus//primary ciliary dyskinesia caused by mutation in rsph9//primary ciliary dyskinesia type 12//primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia//rsph9 primary ciliary dyskinesia	RSPH9	RSPH9	https://raresource.nih.gov/literature/disease/0015575	0015575	612650		C2675228	C567211	radial spoke head component 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 12"	None
Hereditary spherocytosis type 4	hemolytic anemia due to band 3 montefiore//hereditary spherocytosis 4//hereditary spherocytosis caused by mutation in slc4a1//hs4//slc4a1 hereditary spherocytosis//slc4a1-related hereditary spherocytosis//slc4a1-related spherocytosis//sph4	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0015576	0015576	612653		C2675212	C567208	solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis type 4"	1
Cone-rod dystrophy 12	cone-rod dystrophy caused by mutation in prom1//cone-rod dystrophy type 12//cord12//prom1 cone-rod dystrophy	PROM1	PROM1	https://raresource.nih.gov/literature/disease/0015577	0015577	612657		C2675210	C567206	prominin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 12"	None
Hereditary spherocytosis type 5	epb42 hereditary spherocytosis//epb42-related hereditary spherocytosis//epb42-related spherocytosis//hereditary spherocytosis 5//hereditary spherocytosis caused by mutation in epb42//hs5//sph5	EPB42	EPB42	https://raresource.nih.gov/literature/disease/0015578	0015578	612690		C2675192	C567202	erythrocyte membrane protein band 4.2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis type 5"	1
Agammaglobulinemia 6, autosomal recessive	agammaglobulinemia 6//agammaglobulinemia, autosomal recessive, due to cd79b defect//agm6//autosomal agammaglobulinemia caused by mutation in cd79b//cd79b autosomal agammaglobulinemia	CD79B	CD79B	https://raresource.nih.gov/literature/disease/0015579	0015579	612692		C3150207		CD79b molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 6, autosomal recessive"	None
Microcephaly 7, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in stil//stil autosomal recessive primary microcephaly	STIL	STIL	https://raresource.nih.gov/literature/disease/0015580	0015580	612703		C2675187	C567198	STIL centriolar assembly protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 7, primary, autosomal recessive"	None
Cone-rod dystrophy 9	adam9 cone-rod dystrophy//cone-rod dystrophy caused by mutation in adam9//cone-rod dystrophy type 9//cord9	ADAM9	ADAM9	https://raresource.nih.gov/literature/disease/0015582	0015582	612775		C1423873		ADAM metallopeptidase domain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 9"	None
Question mark ears, isolated	ears, prominent and constricted//qme	EDN1	EDN1	https://raresource.nih.gov/literature/disease/0015583	0015583	612798		C2748545		endothelin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Question mark ears, isolated"	2
Brugada syndrome 5	brgda5//brugada syndrome caused by mutation in scn1b//brugada syndrome type 5//scn1b brugada syndrome	SCN1B	SCN1B	https://raresource.nih.gov/literature/disease/0015584	0015584	612838		C2748541		sodium voltage-gated channel beta subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 5"	None
Hypotrichosis 5	hypotrichosis type 5//hypt5//marie unna hereditary hypotrichosis 2//muhh2	EPS8L3	EPS8L3	https://raresource.nih.gov/literature/disease/0015585	0015585	612841		C2748535	C567554	EPS8 signaling adaptor L3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 5"	None
Dilated cardiomyopathy 1BB	cardiomyopathy, dilated, 1bb, susceptibility to//cardiomyopathy, dilated, type 1bb//cmd1bb//dilated cardiomyopathy type 1bb//dsg2 familial isolated dilated cardiomyopathy//dsg2-related dilated cardiomyopathy//familial isolated dilated cardiomyopathy caused by mutation in dsg2	DSG2	DSG2	https://raresource.nih.gov/literature/disease/0015588	0015588	612877		C2752072	C567877	desmoglein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1BB"	None
Keratosis palmoplantaris striata 2	dsp striate palmoplantar keratoderma//keratoderma, palmoplantar, striate form ii//keratosis palmoplantaris striata ii//keratosis palmoplantaris striata type 2//striate palmoplantar keratoderma caused by mutation in dsp//striate palmoplantar keratoderma ii	DSP	DSP	https://raresource.nih.gov/literature/disease/0015590	0015590	612908		C1852127	C565102	desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis palmoplantaris striata 2"	None
3M syndrome 2	3-m syndrome caused by mutation in obsl1//3-m syndrome, obsl1-related//obsl1 3-m syndrome//three m syndrome 2//three m syndrome type 2	OBSL1	OBSL1	https://raresource.nih.gov/literature/disease/0015591	0015591	612921		C2752041	C567862	obscurin like cytoskeletal adaptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3M syndrome 2"	2
Hereditary spastic paraplegia 50	ap4m1 hereditary spastic paraplegia//autosomal recessive spastic paraplegia 50//hereditary spastic paraplegia caused by mutation in ap4m1//hereditary spastic paraplegia type 50//spastic paraplegia 50//spastic paraplegia 50, autosomal recessive//spg50	AP4M1	AP4M1	https://raresource.nih.gov/literature/disease/0015592	0015592	612936		C2752008	C567858	adaptor related protein complex 4 subunit mu 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 50"	7
Retinitis pigmentosa 42	klhl7 retinitis pigmentosa//retinitis pigmentosa caused by mutation in klhl7//retinitis pigmentosa type 42//rp42	KLHL7	KLHL7	https://raresource.nih.gov/literature/disease/0015593	0015593	612943		C2751986	C567854	kelch like family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 42"	1
Long QT syndrome 12	long qt syndrome caused by mutation in snta1//long qt syndrome type 12//lqt12//snta1 long qt syndrome	SNTA1	SNTA1	https://raresource.nih.gov/literature/disease/0015595	0015595	612955		C2751830	C567842	syntrophin alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 12"	None
Ventricular fibrillation, paroxysmal familial, 2	dpp6 ventricular fibrillation (disease)//ventricular fibrillation (disease) caused by mutation in dpp6//ventricular fibrillation, paroxysmal familial, type 2//vf2	DPP6	DPP6	https://raresource.nih.gov/literature/disease/0015596	0015596	612956		C2751829	C567841	dipeptidyl peptidase like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ventricular fibrillation, paroxysmal familial, 2"	None
Multiple synostoses syndrome 3	fgf9 multiple synostoses syndrome//multiple synostoses syndrome caused by mutation in fgf9//multiple synostoses syndrome type 3//syns3	FGF9	FGF9	https://raresource.nih.gov/literature/disease/0015597	0015597	612961		C2751826	C567839	fibroblast growth factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple synostoses syndrome 3"	6
46,XY sex reversal 3	46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure//46,xy sex reversal type 3//46,xy sex reversal, partial or complete, nr5a1-related//disorder of sex development, 46,xy, nr5a1-related//nr5a1-related 46,xy complete gonadal dysgenesis//sex reversal, xy, with or without adrenal failure	NR5A1	NR5A1	https://raresource.nih.gov/literature/disease/0015598	0015598	612965		C3489793		nuclear receptor subfamily 5 group A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 3"	None
Cataract 34 multiple types	autosomal recessive congenital cataract 3//cataract (disease) caused by mutation in foxe3//cataract 34 multiple types with or without microcornea//cataract 34, multiple types, with or without microcornea//catc3//ctrct34//foxe3 cataract (disease)	FOXE3	FOXE3	https://raresource.nih.gov/literature/disease/0015599	0015599	612968		C2751822	C567835	forkhead box E3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 34 multiple types"	None
Atrial fibrillation, familial, 8	atfb8	ZFHX3	ZFHX3	https://raresource.nih.gov/literature/disease/0015609	0015609	613055		C2751607	C567802	zinc finger homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 8"	None
Metaphyseal anadysplasia 2	mandp2//metaphyseal anadysplasia 2, autosomal recessive//metaphyseal anadysplasia caused by mutation in mmp9//metaphyseal anadysplasia type 2//mmp9 metaphyseal anadysplasia	MMP9	MMP9	https://raresource.nih.gov/literature/disease/0015610	0015610	613073		C2751322	C567771	matrix metallopeptidase 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal anadysplasia 2"	2
46,XY sex reversal 5	46,xy gonadal dysgenesis, complete, cbx2-related//46,xy sex reversal type 5//46,xy sex reversal, cbx2-related//disorder of sex development, 46,xy, cbx2-related//sex reversal, xy, cbx2-related	CBX2	CBX2	https://raresource.nih.gov/literature/disease/0015611	0015611	613080		C2751317	C567766	chromobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 5"	None
Bartter disease type 4B	barts4b//bartter syndrome, type 4b//bartter syndrome, type 4b, digenic//bartter syndrome, type 4b, neonatal, with sensorineural deafness//neonatal bartter syndrome type 4b with sensorineural deafness	CLCNKA;CLCNKB	CLCNKA;CLCNKB	https://raresource.nih.gov/literature/disease/0015612	0015612	613090		C4310805		chloride voltage-gated channel Ka; chloride voltage-gated channel Kb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter disease type 4B"	1
Asphyxiating thoracic dystrophy 3	asphyxiating thoracic dystrophy type 3//atd3//dync2h1-related short rib thoracic dysplasia//polydactyly with neonatal chondrodystrophy type 1//polydactyly with neonatal chondrodystrophy type iii//polydactyly with neonatal chondrodystrophy, type 3//polydactyly with neonatal chondrodystrophy, type i//saldino noonan syndrome//saldino-noonan syndrome//short rib polydactyly syndrome 2b//short rib polydactyly syndrome saldino noonan type//short rib polydactyly syndrome type 1//short rib polydactyly syndrome type i//short rib polydactyly syndrome verma naumoff type//short rib-polydactyly syndrome saldino-noonan type//short rib-polydactyly syndrome type 1//short rib-polydactyly syndrome type 3//short rib-polydactyly syndrome type iii//short rib-polydactyly syndrome, saldino-noonan type//short rib-polydactyly syndrome, type 2b//short rib-polydactyly syndrome, type iib//short-rib thoracic dysplasia 3 with or without polydactyly//short-rib thoracic dysplasia 3/6 with polydactyly, digenic//srps type 1//srps type 3//srps1//srps2b//srps3//srtd3//type i short rib polydactyly syndrome//verma-naumoff syndrome	DYNC2H1	DYNC2H1	https://raresource.nih.gov/literature/disease/0015613	0015613	613091	93270	C0036069	C537602	dynein cytoplasmic 2 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Asphyxiating thoracic dystrophy 3"	47
Familial hemophagocytic lymphohistiocytosis 5	familial hemophagocytic lymphohistiocytosis type 5//fhl5//genetic hemophagocytic lymphohistiocytosis caused by mutation in stxbp2//hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease//hemophagocytic lymphohistiocytosis, familial, type 5//hlh5//hplh5//stxbp2 genetic hemophagocytic lymphohistiocytosis	STXBP2	STXBP2	https://raresource.nih.gov/literature/disease/0015614	0015614	613101		C2751293	C567752	syntaxin binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hemophagocytic lymphohistiocytosis 5"	19
Choroidal dystrophy, central areolar 2	cacd2//central areolar choroidal dystrophy caused by mutation in prph2//choriodal dystrophy, central areolar 2//choroidal dystrophy, central areolar type 2//macular dystrophy, progressive//prph2 central areolar choroidal dystrophy	PRPH2	PRPH2	https://raresource.nih.gov/literature/disease/0015615	0015615	613105		C2751290	C567750	peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choroidal dystrophy, central areolar 2"	None
Neutropenia, severe congenital, 2, autosomal dominant	autosomal dominant severe congenital neutropenia caused by mutation in gfi1//gfi1 autosomal dominant severe congenital neutropenia	GFI1	GFI1	https://raresource.nih.gov/literature/disease/0015616	0015616	613107		C2751288	C567748	growth factor independent 1 transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutropenia, severe congenital, 2, autosomal dominant"	None
Familial chronic mucocutaneous candidiasis	candf4//candidiasis familial chronic mucocutaneous, autosomal recessive//candidiasis, familial, 4//candidiasis, familial, 4, autosomal recessive//candidiasis, familial, type 4//clec7a familial chronic mucocutaneous candidiasis//familial chronic mucocutaneous candidiasis caused by mutation in clec7a//familial chronic mucocutaneous candidosis//fcmc - familial chronic mucocutaneous candidiasis//fcmc - familial chronic mucocutaneous candidosis	CLEC7A	CLEC7A	https://raresource.nih.gov/literature/disease/0015617	0015617	613108		C0341024		C-type lectin domain containing 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial chronic mucocutaneous candidiasis"	2
Neuropathy, hereditary sensory and autonomic, type 2B	hereditary sensory and autonomic neuropathy type 2 caused by mutation in retreg1//hereditary sensory and autonomic neuropathy type iib//hereditary sensory autonomic neuropathy type iib//hsan2b//retreg1 hereditary sensory and autonomic neuropathy type 2	RETREG1	RETREG1	https://raresource.nih.gov/literature/disease/0015618	0015618	613115		C2751092		reticulophagy regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory and autonomic, type 2B"	5
Brugada syndrome 6	brgda6//brugada syndrome caused by mutation in kcne3//brugada syndrome type 6//kcne3 brugada syndrome	KCNE3	KCNE3	https://raresource.nih.gov/literature/disease/0015619	0015619	613119		C2751089	C567735	potassium voltage-gated channel subfamily E regulatory subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 6"	None
Brugada syndrome 7	brgda7//brugada syndrome caused by mutation in scn3b//brugada syndrome type 7//scn3b brugada syndrome	SCN3B	SCN3B	https://raresource.nih.gov/literature/disease/0015620	0015620	613120		C2751088	C567734	sodium voltage-gated channel beta subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 7"	None
Dilated cardiomyopathy 1CC	cardiomyopathy, dilated, type 1cc//cmd1cc//dilated cardiomyopathy type 1cc//familial isolated dilated cardiomyopathy caused by mutation in nexn//nexn familial isolated dilated cardiomyopathy//nexn-related dilated cardiomyopathy	NEXN	NEXN	https://raresource.nih.gov/literature/disease/0015621	0015621	613122		C2751084	C567733	nexilin F-actin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1CC"	None
Brugada syndrome 8	brgda8//brugada syndrome caused by mutation in hcn4//brugada syndrome type 8//hcn4 brugada syndrome	HCN4	HCN4	https://raresource.nih.gov/literature/disease/0015622	0015622	613123		C2751083	C567732	hyperpolarization activated cyclic nucleotide gated potassium channel 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 8"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	mddga2//muscle-eye-brain-pomt2 related//walker-warburg syndrome or muscle-eye-brain disease, pomt2-related	POMT2	POMT2	https://raresource.nih.gov/literature/disease/0015624	0015624	613150		C3150411		protein O-mannosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	muscle-eye-brain-fkrp related//walker-warburg syndrome or muscle-eye-brain disease, fkrp-related	FKRP	FKRP	https://raresource.nih.gov/literature/disease/0015625	0015625	613153		C3150413		fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	walker-warburg syndrome or muscle-eye-brain disease, large-related	LARGE1	LARGE1	https://raresource.nih.gov/literature/disease/0015626	0015626	613154		C3150414		LARGE xylosyl- and glucuronyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6"	None
Dilated cardiomyopathy 1DD	cardiomyopathy, dilated, type 1dd//cmd1dd//dilated cardiomyopathy type 1dd//familial isolated dilated cardiomyopathy caused by mutation in rbm20//rbm20 familial isolated dilated cardiomyopathy//rbm20-related dilated cardiomyopathy	RBM20	RBM20	https://raresource.nih.gov/literature/disease/0015627	0015627	613172		C2750995	C567725	RNA binding motif protein 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1DD"	None
Primary ciliary dyskinesia 13	cild13//ciliary dyskinesia, primary, 13, with or without situs inversus//ciliary dyskinesia, primary, type 13//dnaaf1 primary ciliary dyskinesia//primary ciliary dyskinesia 13 with or without situs inversus//primary ciliary dyskinesia caused by mutation in dnaaf1//primary ciliary dyskinesia type 13//primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia	DNAAF1	DNAAF1	https://raresource.nih.gov/literature/disease/0015628	0015628	613193		C2750790	C567713	dynein axonemal assembly factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 13"	None
Retinitis pigmentosa 50	best1 retinitis pigmentosa//retinitis pigmentosa caused by mutation in best1//retinitis pigmentosa type 50//retinitis pigmentosa, concentric//rp50	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0015629	0015629	613194		C2750789	C567712	bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 50"	1
Amelogenesis imperfecta hypomaturation type 2A3	ai2a3//amelogenesis imperfecta caused by mutation in wdr72//amelogenesis imperfecta hypomaturation type iia3//amelogenesis imperfecta type iia3//amelogenesis imperfecta, hypomaturation type, iia3//amelogenesis imperfecta, type iia3//wdr72 amelogenesis imperfecta	WDR72	WDR72	https://raresource.nih.gov/literature/disease/0015630	0015630	613211		C2750771	C567706	WD repeat domain 72	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta hypomaturation type 2A3"	None
Congenital stationary night blindness 1C	congenital stationary night blindness 1c autosomal recessive//congenital stationary night blindness caused by mutation in trpm1//congenital stationary night blindness type 1c//csnb1c//night blindness, congenital stationary (complete), 1c, autosomal recessive//trpm1 congenital stationary night blindness	TRPM1	TRPM1	https://raresource.nih.gov/literature/disease/0015631	0015631	613216		C2750747	C567704	transient receptor potential cation channel subfamily M member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1C"	None
Factor XIII, A subunit, deficiency of	factor xiii subunit a deficiency//factor xiiia deficiency//hereditary factor xiii a subunit deficiency//hereditary factor xiii alpha subunit deficiency//hereditary factor xiii type ii deficiency//reduced factor xiii, subunit a	F13A1	F13A1	https://raresource.nih.gov/literature/disease/0015633	0015633	613225		C2750514	C567691	coagulation factor XIII A chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor XIII, A subunit, deficiency of"	2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	ca8 dysequilibrium syndrome//cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3//cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3//cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3//dysequilibrium syndrome caused by mutation in ca8//scar34//spinocerebellar ataxia, autosomal recessive 34	CA8	CA8	https://raresource.nih.gov/literature/disease/0015634	0015634	613227		C2750509	C567690	carbonic anhydrase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3"	None
Factor XIII, b subunit, deficiency of	factor xiii subunit b deficiency//factor xiiib deficiency//reduced factor xiii, subunit b	F13B	F13B	https://raresource.nih.gov/literature/disease/0015635	0015635	613235		C2750481	C567688	coagulation factor XIII B chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor XIII, b subunit, deficiency of"	2
Focal segmental glomerulosclerosis 5	focal segmental glomerulosclerosis caused by mutation in inf2//focal segmental glomerulosclerosis type 5//fsgs5//inf2 focal segmental glomerulosclerosis	INF2	INF2	https://raresource.nih.gov/literature/disease/0015636	0015636	613237		C2750475	C567687	inverted formin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 5"	1
Lynch syndrome 8	colorectal cancer, hereditary nonpolyposis, type 8//epcam hereditary nonpolyposis colon cancer//hereditary nonpolyposis colon cancer caused by mutation in epcam//lynch8	EPCAM	EPCAM	https://raresource.nih.gov/literature/disease/0015638	0015638	613244		C2750471	C567685	epithelial cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lynch syndrome 8"	None
Dilated cardiomyopathy 1EE	cardiomyopathy, dilated, type 1ee//cmd1ee//dilated cardiomyopathy type 1ee//familial isolated dilated cardiomyopathy caused by mutation in myh6//myh6 familial isolated dilated cardiomyopathy//myh6-related dilated cardiomyopathy	MYH6	MYH6	https://raresource.nih.gov/literature/disease/0015639	0015639	613252		C2750466	C567683	myosin heavy chain 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1EE"	None
Tuberous sclerosis 2	tsc2//tsc2-related tuberous sclerosis//tuberous sclerosis type 2	TSC2	TSC2	https://raresource.nih.gov/literature/disease/0015640	0015640	613254		C1860707	C566021	TSC complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tuberous sclerosis 2"	63
Waardenburg syndrome type 4B	edn3 waardenburg syndrome//waardenburg syndrome caused by mutation in edn3//waardenburg syndrome type ivb//waardenburg syndrome with hirschsprung disease type 4b//waardenburg syndrome, type 4b, with hirschsprung disease//ws4b	EDN3	EDN3	https://raresource.nih.gov/literature/disease/0015641	0015641	613265		C2750457	C567680	endothelin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 4B"	None
Waardenburg syndrome type 4C	waardenburg syndrome type ivc//waardenburg syndrome with hirschsprung disease type 4c//waardenburg syndrome with hirschsprung disease, type 4c//ws4c	SOX10	SOX10	https://raresource.nih.gov/literature/disease/0015642	0015642	613266		C2750452	C567679	SRY-box transcription factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 4C"	4
Dilated cardiomyopathy 1FF	cardiomyopathy, dilated, type 1ff//cmd1ff//dilated cardiomyopathy type 1ff	TNNI3	TNNI3	https://raresource.nih.gov/literature/disease/0015643	0015643	613286		C2750091	C567654	troponin I3, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1FF"	None
Diamond-Blackfan anemia 9	dba9//diamond-blackfan anaemia caused by mutation in rps10//diamond-blackfan anaemia type 9//diamond-blackfan anemia caused by mutation in rps10//diamond-blackfan anemia type 9//rps10 diamond-blackfan anaemia//rps10 diamond-blackfan anemia//rps10-related diamond-blackfan anemia	RPS10	RPS10	https://raresource.nih.gov/literature/disease/0015644	0015644	613308		C2750081	C567650	ribosomal protein S10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 9"	None
Diamond-Blackfan anemia 10	dba10//diamond-blackfan anaemia caused by mutation in rps26//diamond-blackfan anaemia type 10//diamond-blackfan anemia caused by mutation in rps26//diamond-blackfan anemia type 10//rps26 diamond-blackfan anaemia//rps26 diamond-blackfan anemia//rps26-related diamond-blackfan anemia	RPS26	RPS26	https://raresource.nih.gov/literature/disease/0015645	0015645	613309		C2750080	C567649	ribosomal protein S26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 10"	2
Exudative vitreoretinopathy 5	evr5//exudative vitreoretinopathy caused by mutation in tspan12//exudative vitreoretinopathy type 5//tspan12 exudative vitreoretinopathy//tspan12-related familial exudative vitreoretinopathy, autosomal dominant	TSPAN12	TSPAN12	https://raresource.nih.gov/literature/disease/0015646	0015646	613310		C2750079	C567648	tetraspanin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exudative vitreoretinopathy 5"	None
Hemochromatosis type 2B	hamp hemochromatosis type 2//hamp-related juvenile hemochromatosis//hemochromatosis type 2 caused by mutation in hamp//hfe2b	HAMP	HAMP	https://raresource.nih.gov/literature/disease/0015647	0015647	613313		C1865616	C566557	hepcidin antimicrobial peptide	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 2B"	None
Hypokalemic periodic paralysis, type 2	hokpp2	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0015649	0015649	613345		C2750061	C567635	sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypokalemic periodic paralysis, type 2"	8
Maturity-onset diabetes of the young type 10	ins maturity-onset diabetes of the young (disease)//maturity-onset diabetes of the young (disease) caused by mutation in ins//mody10//mody10 (maturity-onset diabetes of the young type 10)	INS	INS	https://raresource.nih.gov/literature/disease/0015652	0015652	613370		C3150617		insulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 10"	4
Maturity-onset diabetes of the young type 11	blk maturity-onset diabetes of the young (disease)//maturity-onset diabetes of the young (disease) caused by mutation in blk//mody11//mody11 (maturity-onset diabetes of the young type 11)	BLK	BLK	https://raresource.nih.gov/literature/disease/0015653	0015653	613375		C3150618		BLK proto-oncogene, Src family tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 11"	1
Brachydactyly type E2	bde2//brachydactyly type e caused by mutation in pthlh//pthlh brachydactyly type e	PTHLH	PTHLH	https://raresource.nih.gov/literature/disease/0015654	0015654	613382		C3150644		parathyroid hormone like hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type E2"	3
Fanconi renotubular syndrome 2	fanconi renotubular syndrome type 2//fanconi syndrome caused by mutation in slc34a1//frts2//slc34a1 fanconi syndrome	SLC34A1	SLC34A1	https://raresource.nih.gov/literature/disease/0015655	0015655	613388		C3150652		solute carrier family 34 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi renotubular syndrome 2"	1
Fanconi anemia complementation group O	fanco//fanconi anaemia caused by mutation in rad51c//fanconi anaemia complementation group type o//fanconi anemia caused by mutation in rad51c//fanconi anemia complementation group type o//fanconi anemia, complementation group type o//rad51c fanconi anaemia//rad51c fanconi anemia//rad51c-related fanconi anemia	RAD51C	RAD51C	https://raresource.nih.gov/literature/disease/0015656	0015656	613390		C3150653		RAD51 paralog C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group O"	1
Arthrogryposis, renal dysfunction, and cholestasis 2	arcs2//arthrogryposis, renal dysfunction, and cholestasis type 2//arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in vipas39//vipas39 arthrogryposis-renal dysfunction-cholestasis syndrome//vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome	VIPAS39	VIPAS39	https://raresource.nih.gov/literature/disease/0015658	0015658	613404		C3150672		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, renal dysfunction, and cholestasis 2"	1
Oguchi disease-2	congenital stationary night blindness oguchi type 2//csnbo2//grk1 oguchi disease//night blindness, congenital stationary, oguchi type 2//oguchi disease caused by mutation in grk1//oguchi disease type 2	GRK1	GRK1	https://raresource.nih.gov/literature/disease/0015660	0015660	613411		C3150678		G protein-coupled receptor kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oguchi disease-2"	2
Dilated cardiomyopathy 1R	actc1 familial isolated dilated cardiomyopathy//actc1-related dilated cardiomyopathy//cardiomyopathy, dilated, type 1r//cmd1r//dilated cardiomyopathy type 1r//familial isolated dilated cardiomyopathy caused by mutation in actc1	ACTC1	ACTC1	https://raresource.nih.gov/literature/disease/0015661	0015661	613424		C3150681		actin alpha cardiac muscle 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1R"	None
Retinitis pigmentosa 54	pcare retinitis pigmentosa//retinitis pigmentosa caused by mutation in pcare//retinitis pigmentosa type 54//rp54	PCARE	PCARE	https://raresource.nih.gov/literature/disease/0015662	0015662	613428		C3150691		photoreceptor cilium actin regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 54"	None
Amyotrophic lateral sclerosis type 12	als12//amyotrophic lateral sclerosis 12//amyotrophic lateral sclerosis 12 with or without frontotemporal dementia//amyotrophic lateral sclerosis caused by mutation in optn//optn amyotrophic lateral sclerosis//optn-related amyotrophic lateral sclerosis	OPTN	OPTN	https://raresource.nih.gov/literature/disease/0015663	0015663	613435		C3150692		optineurin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 12"	2
Retinitis pigmentosa 51	retinitis pigmentosa caused by mutation in ttc8//retinitis pigmentosa type 51//rp51//ttc8 retinitis pigmentosa	TTC8	TTC8	https://raresource.nih.gov/literature/disease/0015665	0015665	613464		C3150715		tetratricopeptide repeat domain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 51"	None
Long QT syndrome 13	kcnj5 long qt syndrome//long qt syndrome caused by mutation in kcnj5//long qt syndrome type 13//lqt13	KCNJ5	KCNJ5	https://raresource.nih.gov/literature/disease/0015666	0015666	613485		C3150733		potassium inwardly rectifying channel subfamily J member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 13"	1
Immunodeficiency, common variable, 3	antibody deficiency due to cd19 defect//immunodeficiency, common variable, type 3	CD19	CD19	https://raresource.nih.gov/literature/disease/0015668	0015668	613493		C3150738		CD19 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 3"	None
Immunodeficiency, common variable, 4	antibody deficiency due to baffr defect//immunodeficiency, common variable, type 4	TNFRSF13C	TNFRSF13C	https://raresource.nih.gov/literature/disease/0015669	0015669	613494		C3150739		TNF receptor superfamily member 13C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 4"	None
Immunodeficiency, common variable, 5	antibody deficiency due to cd20 defect//common variable immunodeficiency caused by mutation in ms4a1//immunodeficiency, common variable, type 5//ms4a1 common variable immunodeficiency	MS4A1	MS4A1	https://raresource.nih.gov/literature/disease/0015670	0015670	613495		C3150740		membrane spanning 4-domains A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 5"	None
Immunodeficiency, common variable, 6	antibody deficiency due to cd81 defect//cd81 common variable immunodeficiency//common variable immunodeficiency caused by mutation in cd81//immunodeficiency, common variable, type 6	CD81	CD81	https://raresource.nih.gov/literature/disease/0015671	0015671	613496		C3150741		CD81 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 6"	None
Agammaglobulinemia 2, autosomal recessive	agammaglobulinemia, autosomal recessive, due to igll1 defect//agm2//autosomal agammaglobulinemia caused by mutation in igll1//igll1 autosomal agammaglobulinemia//lambda 5 deficiency	IGLL1	IGLL1	https://raresource.nih.gov/literature/disease/0015672	0015672	613500		C3150750		immunoglobulin lambda like polypeptide 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 2, autosomal recessive"	None
Agammaglobulinemia 3, autosomal recessive	agammaglobulinemia 3//agammaglobulinemia, autosomal recessive, due to cd79a defect//agm3//autosomal agammaglobulinemia caused by mutation in cd79a//cd79a autosomal agammaglobulinemia	CD79A	CD79A	https://raresource.nih.gov/literature/disease/0015673	0015673	613501		C3150751		CD79a molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 3, autosomal recessive"	None
Agammaglobulinemia 4, autosomal recessive	agammaglobulinemia 4//agammaglobulinemia, autosomal recessive, due to blnk defect//agm4//autosomal agammaglobulinemia caused by mutation in blnk//b cell linker protein deficiency//b-cell linker protein deficiency//blnk autosomal agammaglobulinemia//blnk deficiency	BLNK	BLNK	https://raresource.nih.gov/literature/disease/0015674	0015674	613502		C3150752		B cell linker	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 4, autosomal recessive"	8
Agammaglobulinemia 5, autosomal dominant	agammaglobulinemia 5//agammaglobulinemia, autosomal dominant, due to lrrc8a defect//agm5//autosomal agammaglobulinemia caused by mutation in lrrc8a//lrrc8a autosomal agammaglobulinemia	LRRC8A	LRRC8A	https://raresource.nih.gov/literature/disease/0015675	0015675	613506		C3150753		leucine rich repeat containing 8 VRAC subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 5, autosomal dominant"	None
Myopathy, lactic acidosis, and sideroblastic anemia 2	mitochondrial myopathy and sideroblastic anaemia caused by mutation in yars2//mitochondrial myopathy and sideroblastic anemia caused by mutation in yars2//mlasa2//myopathy, lactic acidosis, and sideroblastic anaemia type 2//myopathy, lactic acidosis, and sideroblastic anemia type 2//yars2 mitochondrial myopathy and sideroblastic anaemia//yars2 mitochondrial myopathy and sideroblastic anemia	YARS2	YARS2	https://raresource.nih.gov/literature/disease/0015676	0015676	613561		C3150802		tyrosyl-tRNA synthetase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, lactic acidosis, and sideroblastic anemia 2"	6
Retinitis pigmentosa 55	arl6 retinitis pigmentosa//retinitis pigmentosa caused by mutation in arl6//retinitis pigmentosa type 55//rp55	ARL6	ARL6	https://raresource.nih.gov/literature/disease/0015677	0015677	613575		C3150808		ARF like GTPase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 55"	None
Retinitis pigmentosa 56	impg2 retinitis pigmentosa//retinitis pigmentosa caused by mutation in impg2//retinitis pigmentosa type 56//rp56	IMPG2	IMPG2	https://raresource.nih.gov/literature/disease/0015678	0015678	613581		C3150819		interphotoreceptor matrix proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 56"	None
Retinitis pigmentosa 57	pde6g retinitis pigmentosa//retinitis pigmentosa caused by mutation in pde6g//retinitis pigmentosa type 57//rp57	PDE6G	PDE6G	https://raresource.nih.gov/literature/disease/0015679	0015679	613582		C3150821		phosphodiesterase 6G	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 57"	None
Cranioectodermal dysplasia 2	ced2//cranioectodermal dysplasia caused by mutation in wdr35//cranioectodermal dysplasia type 2//wdr35 cranioectodermal dysplasia//wdr35-related cranioectodermal dysplasia	WDR35	WDR35	https://raresource.nih.gov/literature/disease/0015680	0015680	613610		C3150874		WD repeat domain 35	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia 2"	5
Senior-Loken syndrome 7	sdccag8 senior-loken syndrome//senior-loken syndrome caused by mutation in sdccag8//senior-loken syndrome type 7//slsn7	SDCCAG8	SDCCAG8	https://raresource.nih.gov/literature/disease/0015681	0015681	613615		C3150877		SHH signaling and ciliogenesis regulator SDCCAG8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 7"	None
Retinitis pigmentosa 58	retinitis pigmentosa caused by mutation in znf513//retinitis pigmentosa type 58//rp58//znf513 retinitis pigmentosa	ZNF513	ZNF513	https://raresource.nih.gov/literature/disease/0015682	0015682	613617		C3150879		zinc finger protein 513	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 58"	1
Neuropathy, hereditary sensory and autonomic, type 1C	hereditary sensory and autonomic neuropathy type ic//hereditary sensory autonomic neuropathy type ic//hsan ic//hsan1c//hsn ic	SPTLC2	SPTLC2	https://raresource.nih.gov/literature/disease/0015683	0015683	613640		C3150896		serine palmitoyltransferase long chain base subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory and autonomic, type 1C"	3
Dilated cardiomyopathy 1GG	cardiomyopathy, dilated, type 1gg//cmd1gg//dilated cardiomyopathy type 1gg//familial isolated dilated cardiomyopathy caused by mutation in sdha//sdha familial isolated dilated cardiomyopathy	SDHA	SDHA	https://raresource.nih.gov/literature/disease/0015684	0015684	613642		C3150898		succinate dehydrogenase complex flavoprotein subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1GG"	None
D-2-hydroxyglutaric aciduria 2	d-2-hydroxyglutaric aciduria caused by mutation in idh2//d-2-hydroxyglutaric aciduria type 2//d2hga2//idh2 d-2-hydroxyglutaric aciduria	IDH2	IDH2	https://raresource.nih.gov/literature/disease/0015685	0015685	613657		C3150909		isocitrate dehydrogenase (NADP(+)) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D-2-hydroxyglutaric aciduria 2"	3
Cone-rod dystrophy 15	cdhr1 cone-rod dystrophy//cone-rod dystrophy caused by mutation in cdhr1//cone-rod dystrophy type 15//cord15	CDHR1	CDHR1	https://raresource.nih.gov/literature/disease/0015686	0015686	613660		C3150912		cadherin related family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 15"	None
Seckel syndrome 4	cenpj seckel syndrome//sckl4//seckel syndrome caused by mutation in cenpj//seckel syndrome type 4	CPAP	CPAP	https://raresource.nih.gov/literature/disease/0015687	0015687	613676		C3888212		centrosome assembly and centriole elongation protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 4"	2
Dilated cardiomyopathy 1U	cardiomyopathy, dilated, type 1u//cmd1u//dilated cardiomyopathy type 1u//familial isolated dilated cardiomyopathy caused by mutation in psen1//psen1 familial isolated dilated cardiomyopathy//psen1-related dilated cardiomyopathy	PSEN1	PSEN1	https://raresource.nih.gov/literature/disease/0015689	0015689	613694		C3160720	C566296	presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1U"	None
Dilated cardiomyopathy 1V	cardiomyopathy, dilated, type 1v//cmd1v//dilated cardiomyopathy type 1v//familial isolated dilated cardiomyopathy caused by mutation in psen2//psen2 familial isolated dilated cardiomyopathy//psen2-related dilated cardiomyopathy	PSEN2	PSEN2	https://raresource.nih.gov/literature/disease/0015690	0015690	613697		C3150958	C566856	presenilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1V"	None
Klippel-Feil syndrome 3, autosomal dominant	gdf3 isolated klippel-feil syndrome//isolated klippel-feil syndrome caused by mutation in gdf3//kfs3	GDF3	GDF3	https://raresource.nih.gov/literature/disease/0015691	0015691	613702		C3150967		growth differentiation factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Klippel-Feil syndrome 3, autosomal dominant"	None
Microphthalmia, isolated, with coloboma 6	mcopcb6//microphthalmia with coloboma 6//microphthalmia with coloboma 6, digenic//microphthalmia, isolated, with coloboma type 6//microphthalmia/coloboma 6	GDF3;GDF6	GDF3;GDF6	https://raresource.nih.gov/literature/disease/0015692	0015692	613703		C3150968		growth differentiation factor 3; growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma 6"	None
Noonan syndrome 7	braf noonan syndrome//braf-related noonan syndrome//noonan syndrome caused by mutation in braf//noonan syndrome type 7//ns7	BRAF	BRAF	https://raresource.nih.gov/literature/disease/0015693	0015693	613706		C3150970		B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 7"	None
LEOPARD syndrome 3	braf noonan syndrome with multiple lentigines//braf-related leopard syndrome//leopard syndrome type 3//lprd3//noonan syndrome with multiple lentigines caused by mutation in braf	BRAF	BRAF	https://raresource.nih.gov/literature/disease/0015694	0015694	613707		C3150971		B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LEOPARD syndrome 3"	None
Neuropathy, hereditary sensory, type 1D	hsn1d	ATL1	ATL1	https://raresource.nih.gov/literature/disease/0015695	0015695	613708		C3150972		atlastin GTPase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory, type 1D"	None
Treacher Collins syndrome 2	polr1d treacher-collins syndrome//polr1d-related treacher collins syndrome//tcs2//treacher collins syndrome 2, autosomal recessive//treacher collins syndrome type 2//treacher-collins syndrome caused by mutation in polr1d	POLR1D	POLR1D	https://raresource.nih.gov/literature/disease/0015698	0015698	613717		C3150983		RNA polymerase I and III subunit D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher Collins syndrome 2"	2
Developmental and epileptic encephalopathy, 11	dee11//early infantile epileptic encephalopathy 11//early infantile epileptic encephalopathy caused by mutation in scn2a//eiee11//epileptic encephalopathy, early infantile, 11//epileptic encephalopathy, early infantile, type 11//scn2a early infantile epileptic encephalopathy	SCN2A	SCN2A	https://raresource.nih.gov/literature/disease/0015699	0015699	613721		C3150987		sodium voltage-gated channel alpha subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 11"	None
Retinitis pigmentosa 27	nrl retinitis pigmentosa//retinitis pigmentosa caused by mutation in nrl//retinitis pigmentosa type 27//rp27	NRL	NRL	https://raresource.nih.gov/literature/disease/0015700	0015700	613750		C1834329	C563526	neural retina leucine zipper	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 27"	None
Retinitis pigmentosa 49	cnga1 retinitis pigmentosa//retinitis pigmentosa caused by mutation in cnga1//retinitis pigmentosa type 49//rp49	CNGA1	CNGA1	https://raresource.nih.gov/literature/disease/0015701	0015701	613756		C3151059		cyclic nucleotide gated channel subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 49"	1
Retinitis pigmentosa 47	retinitis pigmentosa caused by mutation in sag//retinitis pigmentosa type 47//rp47//sag retinitis pigmentosa	SAG	SAG	https://raresource.nih.gov/literature/disease/0015702	0015702	613758		C3151061		S-antigen visual arrestin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 47"	None
46,XY sex reversal 6	46,xy gonadal dysgenesis, partial or complete, map3k1-related//46,xy sex reversal type 6//46,xy sex reversal, partial or complete, map3k1-related	MAP3K1	MAP3K1	https://raresource.nih.gov/literature/disease/0015703	0015703	613762		C3151064		mitogen-activated protein kinase kinase kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 6"	None
Retinitis pigmentosa 45	cngb1 retinitis pigmentosa//retinitis pigmentosa caused by mutation in cngb1//retinitis pigmentosa type 45//rp45	CNGB1	CNGB1	https://raresource.nih.gov/literature/disease/0015704	0015704	613767		C3151066		cyclic nucleotide gated channel subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 45"	3
Retinitis pigmentosa 44	retinitis pigmentosa caused by mutation in rgr//retinitis pigmentosa type 44//rgr retinitis pigmentosa//rp44	RGR	RGR	https://raresource.nih.gov/literature/disease/0015705	0015705	613769		C3151068		retinal G protein coupled receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 44"	None
Aortic aneurysm, familial thoracic 7	aat7//aortic aneurysm, familial thoracic type 7//aortic dissection, familial, with or without aortic aneurysm//mylk-related thoracic aortic aneurysms and aortic dissections	MYLK	MYLK	https://raresource.nih.gov/literature/disease/0015706	0015706	613780		C3151077		myosin light chain kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 7"	None
Complement component C1s deficiency	c1s deficiency//complement 1s deficiency	C1S	C1S	https://raresource.nih.gov/literature/disease/0015707	0015707	613783		C3151078	C565170	complement C1s	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component C1s deficiency"	5
Meier-Gorlin syndrome 2	meier-gorlin syndrome caused by mutation in orc4//meier-gorlin syndrome type 2//mgors2//orc4 meier-gorlin syndrome	ORC4	ORC4	https://raresource.nih.gov/literature/disease/0015708	0015708	613800		C3151097		origin recognition complex subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 2"	None
Retinitis pigmentosa 40	pde6b retinitis pigmentosa//retinitis pigmentosa caused by mutation in pde6b//retinitis pigmentosa type 40//rp40	PDE6B	PDE6B	https://raresource.nih.gov/literature/disease/0015709	0015709	613801		C3151107		phosphodiesterase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 40"	None
Meier-Gorlin syndrome 3	meier-gorlin syndrome caused by mutation in orc6//meier-gorlin syndrome type 3//mgors3//orc6 meier-gorlin syndrome	ORC6	ORC6	https://raresource.nih.gov/literature/disease/0015710	0015710	613803		C3151113		origin recognition complex subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 3"	None
Meier-Gorlin syndrome 4	cdt1 meier-gorlin syndrome//meier-gorlin syndrome caused by mutation in cdt1//meier-gorlin syndrome type 4//mgors4	CDT1	CDT1	https://raresource.nih.gov/literature/disease/0015711	0015711	613804		C3151120		chromatin licensing and DNA replication factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 4"	None
Meier-Gorlin syndrome 5	cdc6 meier-gorlin syndrome//meier-gorlin syndrome caused by mutation in cdc6//meier-gorlin syndrome type 5//mgors5	CDC6	CDC6	https://raresource.nih.gov/literature/disease/0015712	0015712	613805		C3151126		cell division cycle 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 5"	1
Primary ciliary dyskinesia 14	ccdc39 primary ciliary dyskinesia//cild14//ciliary dyskinesia, primary, 14, with or without situs inversus//ciliary dyskinesia, primary, type 14//primary ciliary dyskinesia 14 with or without situs inversus//primary ciliary dyskinesia caused by mutation in ccdc39//primary ciliary dyskinesia type 14//primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia	CCDC39	CCDC39	https://raresource.nih.gov/literature/disease/0015713	0015713	613807		C3151136		coiled-coil domain 39 molecular ruler complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 14"	None
Primary ciliary dyskinesia 15	ccdc40 primary ciliary dyskinesia//cild15//ciliary dyskinesia, primary, 15, with or without situs inversus//ciliary dyskinesia, primary, type 15//primary ciliary dyskinesia 15 with or without situs inversus//primary ciliary dyskinesia caused by mutation in ccdc40//primary ciliary dyskinesia type 15//primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia	CCDC40	CCDC40	https://raresource.nih.gov/literature/disease/0015714	0015714	613808		C3151137		coiled-coil domain 40 molecular ruler complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 15"	None
Retinitis pigmentosa 39	retinitis pigmentosa caused by mutation in ush2a//retinitis pigmentosa type 39//rp39//ush2a retinitis pigmentosa	USH2A	USH2A	https://raresource.nih.gov/literature/disease/0015715	0015715	613809		C3151138		usherin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 39"	None
Retinitis pigmentosa 43	pde6a retinitis pigmentosa//retinitis pigmentosa caused by mutation in pde6a//retinitis pigmentosa type 43//rp43	PDE6A	PDE6A	https://raresource.nih.gov/literature/disease/0015716	0015716	613810		C3151139		phosphodiesterase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 43"	5
Pontocerebellar hypoplasia type 2D	non-syndromic pontocerebellar hypoplasia caused by mutation in sepsecs//pcca - progressive cerebello-cerebral atrophy//pch2d//progressive cerebello-cerebral atrophy//sepsecs non-syndromic pontocerebellar hypoplasia	SEPSECS	SEPSECS	https://raresource.nih.gov/literature/disease/0015717	0015717	613811		C3151140		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2D"	14
Asphyxiating thoracic dystrophy 4	asphyxiating thoracic dystrophy type 4//atd4//short-rib thoracic dysplasia 4//short-rib thoracic dysplasia 4 with or without polydactyly//srtd4	TTC21B	TTC21B	https://raresource.nih.gov/literature/disease/0015718	0015718	613819		C3151185		tetratricopeptide repeat domain 21B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Asphyxiating thoracic dystrophy 4"	None
Seckel syndrome 5	cep152 seckel syndrome//sckl5//seckel syndrome caused by mutation in cep152//seckel syndrome type 5	CEP152	CEP152	https://raresource.nih.gov/literature/disease/0015719	0015719	613823		C3151187		centrosomal protein 152	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 5"	1
Retinitis pigmentosa 48	guca1b retinitis pigmentosa//guca1b-related retinitis pigmentosa//retinitis pigmentosa caused by mutation in guca1b//retinitis pigmentosa type 48//rp48	GUCA1B	GUCA1B	https://raresource.nih.gov/literature/disease/0015720	0015720	613827		C3151190		guanylate cyclase activator 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 48"	None
Congenital stationary night blindness 1D	congenital stationary night blindness 1d autosomal recessive//congenital stationary night blindness caused by mutation in slc24a1//congenital stationary night blindness type 1d//csnb1d//night blindness, congenital stationary (complete), 1d, autosomal recessive//slc24a1 congenital stationary night blindness	SLC24A1	SLC24A1	https://raresource.nih.gov/literature/disease/0015721	0015721	613830		C3151193		solute carrier family 24 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1D"	None
Osteogenesis imperfecta type 12	oi, type xii//oi12//osteogenesis imperfecta caused by mutation in sp7//osteogenesis imperfecta type xii//osteogenesis imperfecta, type xii//sp7 osteogenesis imperfecta//sp7-related osteogenesis imperfecta	SP7	SP7	https://raresource.nih.gov/literature/disease/0015722	0015722	613849		C3151433		Sp7 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 12"	4
Achromatopsia 4	achm4//achromatopsia caused by mutation in gnat2//achromatopsia type 4//gnat2 achromatopsia	GNAT2	GNAT2	https://raresource.nih.gov/literature/disease/0015723	0015723	613856		C1841721	C564206	G protein subunit alpha transducin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia 4"	None
Retinitis pigmentosa 59	congenital disorder of glycosylation, type 1bb//dhdds retinitis pigmentosa//retinitis pigmentosa caused by mutation in dhdds//retinitis pigmentosa type 59//rp59	DHDDS	DHDDS	https://raresource.nih.gov/literature/disease/0015724	0015724	613861		C3151227		dehydrodolichyl diphosphate synthase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 59"	5
Retinitis pigmentosa 38	mertk retinitis pigmentosa//retinitis pigmentosa caused by mutation in mertk//retinitis pigmentosa type 38//rod-cone dystrophy, childhood-onset//rp38	MERTK	MERTK	https://raresource.nih.gov/literature/disease/0015725	0015725	613862		C3151228		MER proto-oncogene, tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 38"	2
Dilated cardiomyopathy 1HH	bag3 familial isolated dilated cardiomyopathy//bag3-related dilated cardiomyopathy//cardiomyopathy, dilated, type 1hh//cmd1hh//dilated cardiomyopathy type 1hh//familial isolated dilated cardiomyopathy caused by mutation in bag3	BAG3	BAG3	https://raresource.nih.gov/literature/disease/0015726	0015726	613881		C3151293		BAG cochaperone 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1HH"	None
Meckel syndrome, type 8	meckel syndrome caused by mutation in tctn2//meckel-gruber syndrome, type 8//mks8//tctn2 meckel syndrome//tctn2-related meckel syndrome	TCTN2	TCTN2	https://raresource.nih.gov/literature/disease/0015727	0015727	613885		C3836857		tectonic family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 8"	1
Megalencephalic leukoencephalopathy with subcortical cysts 2A	megalencephalic leukoencephalopathy with subcortical cysts type 2a	HEPACAM	HEPACAM	https://raresource.nih.gov/literature/disease/0015728	0015728	613925		C3151355		hepatic and glial cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephalic leukoencephalopathy with subcortical cysts 2A"	None
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development//megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation//mlc2b	HEPACAM	HEPACAM	https://raresource.nih.gov/literature/disease/0015729	0015729	613926		C3151356		hepatic and glial cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	4
Fanconi anemia complementation group P	fanconi anaemia caused by mutation in slx4//fanconi anaemia complementation group type p//fanconi anemia caused by mutation in slx4//fanconi anemia complementation group type p//fanconi anemia, complementation group type p//fancp//slx4 fanconi anaemia//slx4 fanconi anemia//slx4-related fanconi anemia	SLX4	SLX4	https://raresource.nih.gov/literature/disease/0015731	0015731	613951		C3469542		SLX4 structure-specific endonuclease subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group P"	None
Immunodeficiency 51	candidiasis, familial, 5//imd51	IL17RA	IL17RA	https://raresource.nih.gov/literature/disease/0015732	0015732	613953		C4310803		interleukin 17 receptor A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 51"	1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	amyotrophic lateral sclerosis caused by mutation in vcp//amyotrophic lateral sclerosis, with or without frontotemporal dementia//ftdals6//vcp amyotrophic lateral sclerosis//vcp-related amyotrophic lateral sclerosis//vcp-related amyotrophic lateral sclerosis and frontotemporal dementia//vcp-related amyotrophic lateral sclerosis/frontotemporal dementia	VCP	VCP	https://raresource.nih.gov/literature/disease/0015733	0015733	613954		C5436279		valosin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	None
Spermatogenic failure 8	azoospermia caused by mutation in nr5a1//nr5a1 azoospermia//spermatogenic failure type 8//spgf8	NR5A1	NR5A1	https://raresource.nih.gov/literature/disease/0015734	0015734	613957		C3151406		nuclear receptor subfamily 5 group A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 8"	None
Spermatogenic failure 9	azoospermia caused by mutation in dpy19l2//dpy19l2 azoospermia//globozoospermia, complete//globozoospermia, total//spermatogenic failure type 9//spgf9	DPY19L2	DPY19L2	https://raresource.nih.gov/literature/disease/0015735	0015735	613958		C3151407		dpy-19 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 9"	None
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	cgd, autosomal recessive cytochrome b-positive, type iii//chronic granulomatous disease 3, autosomal recessive//granulomatous disease, chronic, autosomal recessive, 3//granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii//granulomatous disease, chronic, due to ncf4 deficiency	NCF4	NCF4	https://raresource.nih.gov/literature/disease/0015736	0015736	613960		C3151409		neutrophil cytosolic factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3"	None
Atrial fibrillation, familial, 9	atfb9//atrial fibrillation, familial, type 9//familial atrial fibrillation caused by mutation in kcnj2//kcnj2 familial atrial fibrillation//kcnj2-related familial atrial fibrillation	KCNJ2	KCNJ2	https://raresource.nih.gov/literature/disease/0015737	0015737	613980		C3151431		potassium inwardly rectifying channel subfamily J member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 9"	None
Retinitis pigmentosa 60	prpf 6-related retinitis pigmentosa//prpf6 retinitis pigmentosa//retinitis pigmentosa caused by mutation in prpf6//retinitis pigmentosa type 60//rp60	PRPF6	PRPF6	https://raresource.nih.gov/literature/disease/0015738	0015738	613983		C3151434		pre-mRNA processing factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 60"	None
Dyskeratosis congenita, autosomal recessive 2	dkcb2//dyskeratosis congenita, autosomal recessive type 2	NHP2	NHP2	https://raresource.nih.gov/literature/disease/0015739	0015739	613987		C3151441		NHP2 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 2"	None
Dyskeratosis congenita, autosomal recessive 3	dkcb3//dyskeratosis congenita, autosomal recessive type 3	WRAP53	WRAP53	https://raresource.nih.gov/literature/disease/0015740	0015740	613988		C3151442		WD repeat containing antisense to TP53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 3"	None
Dyskeratosis congenita, autosomal dominant 2	dkca2//dyskeratosis congenita, autosomal dominant type 2	TERT	TERT	https://raresource.nih.gov/literature/disease/0015741	0015741	613989		C3151443		telomerase reverse transcriptase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal dominant 2"	None
Dyskeratosis congenita, autosomal dominant 3	dkca3//dyskeratosis congenita, autosomal dominant type 3	TINF2	TINF2	https://raresource.nih.gov/literature/disease/0015742	0015742	613990		C3151445		TERF1 interacting nuclear factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal dominant 3"	None
Primary ciliary dyskinesia 16	cild16//ciliary dyskinesia, primary, 16, with or without situs inversus//ciliary dyskinesia, primary, type 16//dnal1 primary ciliary dyskinesia//primary ciliary dyskinesia 16 with or without situs inversus//primary ciliary dyskinesia caused by mutation in dnal1//primary ciliary dyskinesia type 16//primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia	DNAL1	DNAL1	https://raresource.nih.gov/literature/disease/0015743	0015743	614017		C3151460		dynein axonemal light chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 16"	None
Catecholaminergic polymorphic ventricular tachycardia 3	catecholaminergic polymorphic ventricular tachycardia caused by mutation in tecrl//catecholaminergic polymorphic ventricular tachycardia type 3//cvpt3//tecrl catecholaminergic polymorphic ventricular tachycardia	TECRL	TECRL	https://raresource.nih.gov/literature/disease/0015744	0015744	614021		C3151463		trans-2,3-enoyl-CoA reductase like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia 3"	2
Atrial fibrillation, familial, 10	atfb10//atrial fibrillation, familial, type 10//familial atrial fibrillation caused by mutation in scn5a//scn5a familial atrial fibrillation	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0015745	0015745	614022		C3151464		sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 10"	None
Moyamoya disease 5	acta2 moyamoya disease//moyamoya disease caused by mutation in acta2//moyamoya disease type 5//mymy5	ACTA2	ACTA2	https://raresource.nih.gov/literature/disease/0015746	0015746	614042		C3279690		actin alpha 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moyamoya disease 5"	None
Atrial fibrillation, familial, 11	atfb11//atrial fibrillation, familial, type 11//familial atrial fibrillation caused by mutation in gja5//gja5 familial atrial fibrillation//gja5-related familial atrial fibrillation	GJA5	GJA5	https://raresource.nih.gov/literature/disease/0015747	0015747	614049		C3279693		gap junction protein alpha 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 11"	None
Atrial fibrillation, familial, 12	abcc9 familial atrial fibrillation//abcc9-related familial atrial fibrillation//atfb12//atrial fibrillation, familial, type 12//familial atrial fibrillation caused by mutation in abcc9	ABCC9	ABCC9	https://raresource.nih.gov/literature/disease/0015748	0015748	614050		C3279695		ATP binding cassette subfamily C member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 12"	None
Hereditary spastic paraplegia 47	adaptor protein 4 (ap-4) deficiency syndrome//ap4b1 hereditary spastic paraplegia//autosomal recessive spastic paraplegia 47//cerebral palsy, spastic quadriplegic, 5//cpsq5//hereditary spastic paraplegia caused by mutation in ap4b1//hereditary spastic paraplegia type 47//spastic paraplegia 47//spastic paraplegia 47, autosomal recessive//spastic quadriplegic cerebral palsy 5//spg47	AP4B1	AP4B1	https://raresource.nih.gov/literature/disease/0015749	0015749	614066		C3279738		adaptor related protein complex 4 subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 47"	9
Hereditary spastic paraplegia 52	ap4s1 hereditary spastic paraplegia//autosomal recessive spastic paraplegia 52//cerebral palsy, spastic quadriplegic, 6//cpsq6//hereditary spastic paraplegia caused by mutation in ap4s1//hereditary spastic paraplegia type 52//spastic paraplegia 52//spastic paraplegia 52, autosomal recessive//spastic quadriplegic cerebral palsy 6//spg52	AP4S1	AP4S1	https://raresource.nih.gov/literature/disease/0015750	0015750	614067		C3279743		adaptor related protein complex 4 subunit sigma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 52"	4
Immunodeficiency-centromeric instability-facial anomalies syndrome 2	icf syndrome 2//icf2//immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in zbtb24//immunodeficiency-centromeric instability-facial anomalies syndrome type 2//zbtb24 immunodeficiency-centromeric instability-facial anomalies syndrome	ZBTB24	ZBTB24	https://raresource.nih.gov/literature/disease/0015751	0015751	614069		C3279748		zinc finger and BTB domain containing 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency-centromeric instability-facial anomalies syndrome 2"	16
Fanconi anemia complementation group G	fancg//fanconi anaemia complementation group type g//fanconi anemia complementation group type g//fanconi anemia group g//fanconi anemia, complementation group type g	FANCG	FANCG	https://raresource.nih.gov/literature/disease/0015753	0015753	614082		C3469527		FA complementation group G	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group G"	7
Fanconi anemia complementation group L	fancl//fancl fanconi anaemia//fancl fanconi anemia//fanconi anaemia caused by mutation in fancl//fanconi anaemia complementation group type l//fanconi anemia caused by mutation in fancl//fanconi anemia complementation group type l//fanconi anemia, complementation group type 50	FANCL	FANCL	https://raresource.nih.gov/literature/disease/0015754	0015754	614083		C3469528		FA complementation group L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group L"	2
Atrial septal defect 3	asd3//atrial heart septal defect caused by mutation in myh6//atrial heart septal defect type 3//atrial septal defect type 3//myh6 atrial heart septal defect	MYH6	MYH6	https://raresource.nih.gov/literature/disease/0015755	0015755	614089		C3279790	C563540	myosin heavy chain 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 3"	1
Short-rib thoracic dysplasia 7 with or without polydactyly	short rib polydactyly syndrome 5//short rib-polydactyly syndrome type 5//short rib-polydactyly syndrome type v//short rib-polydactyly syndrome, type 5//short-rib thoracic dysplasia 7 with polydactyly//srps5//srtd7	WDR35	WDR35	https://raresource.nih.gov/literature/disease/0015756	0015756	614091	498497	C3279792		WD repeat domain 35	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 7 with or without polydactyly"	3
Cranioectodermal dysplasia 3	ced3//cranioectodermal dysplasia caused by mutation in ift43//cranioectodermal dysplasia type 3//ift43 cranioectodermal dysplasia	IFT43	IFT43	https://raresource.nih.gov/literature/disease/0015757	0015757	614099		C3279807		intraflagellar transport 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia 3"	1
Mosaic variegated aneuploidy syndrome 2	cep57 mosaic variegated aneuploidy syndrome//mosaic variegated aneuploidy syndrome caused by mutation in cep57//mosaic variegated aneuploidy syndrome type 2//mva2	CEP57	CEP57	https://raresource.nih.gov/literature/disease/0015758	0015758	614114		C3279843		centrosomal protein 57	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome 2"	4
Hydrolethalus syndrome 2	hls2//hydrolethalus syndrome caused by mutation in kif7//hydrolethalus syndrome type 2//kif7 hydrolethalus syndrome	KIF7	KIF7	https://raresource.nih.gov/literature/disease/0015759	0015759	614120		C3279899		kinesin family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrolethalus syndrome 2"	None
Perrault syndrome 3	clpp perrault syndrome//perrault syndrome caused by mutation in clpp//perrault syndrome type 3//prlts3	CLPP	CLPP	https://raresource.nih.gov/literature/disease/0015760	0015760	614129		C3808414		caseinolytic mitochondrial matrix peptidase proteolytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 3"	7
Focal segmental glomerulosclerosis 6	focal segmental glomerulosclerosis caused by mutation in myo1e//focal segmental glomerulosclerosis type 6//fsgs6//myo1e focal segmental glomerulosclerosis	MYO1E	MYO1E	https://raresource.nih.gov/literature/disease/0015761	0015761	614131		C3279905		myosin IE	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 6"	None
Brittle cornea syndrome 2	bcs2//brittle cornea syndrome caused by mutation in prdm5//brittle cornea syndrome type 2//prdm5 brittle cornea syndrome	PRDM5	PRDM5	https://raresource.nih.gov/literature/disease/0015764	0015764	614170		C3280011		PR/SET domain 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brittle cornea syndrome 2"	3
Joubert syndrome 13	jbts13//joubert syndrome caused by mutation in tctn1//joubert syndrome type 13//tctn1 joubert syndrome//tctn1-related joubert syndrome	TCTN1	TCTN1	https://raresource.nih.gov/literature/disease/0015765	0015765	614173		C3280031		tectonic family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 13"	1
Retinitis pigmentosa 61	clrn1 retinitis pigmentosa//retinitis pigmentosa caused by mutation in clrn1//retinitis pigmentosa type 61//rp61	CLRN1	CLRN1	https://raresource.nih.gov/literature/disease/0015766	0015766	614180		C3280041		clarin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 61"	None
Retinitis pigmentosa 62	mak retinitis pigmentosa//retinitis pigmentosa caused by mutation in mak//retinitis pigmentosa type 62//rp62	MAK	MAK	https://raresource.nih.gov/literature/disease/0015767	0015767	614181		C3280042		male germ cell associated kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 62"	None
Geleophysic dysplasia 2	fbn1 geleophysic dysplasia//geleophysic dysplasia caused by mutation in fbn1//geleophysic dysplasia type 2//gphysd2	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0015768	0015768	614185		C3280054		fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geleophysic dysplasia 2"	4
Pigmented nodular adrenocortical disease, primary, 3	cushing syndrome, adrenal, due to ppnad3//pde8b primary pigmented nodular adrenocortical disease//pigmented nodular adrenocortical disease, primary, type 3//ppnad3//primary pigmented nodular adrenocortical disease caused by mutation in pde8b	PDE8B	PDE8B	https://raresource.nih.gov/literature/disease/0015769	0015769	614190		C3280094		phosphodiesterase 8B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmented nodular adrenocortical disease, primary, 3"	None
Nephrotic syndrome, type 6	nephrotic syndrome caused by mutation in ptpro//nphs6//ptpro nephrotic syndrome	PTPRO	PTPRO	https://raresource.nih.gov/literature/disease/0015770	0015770	614196		C3280100		protein tyrosine phosphatase receptor type O	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 6"	None
Congenital myasthenic syndrome 16	cms16//congenital myasthenic syndrome acetazolamide-responsive//congenital myasthenic syndrome caused by mutation in scn4a//congenital myasthenic syndrome type 16//myasthenic syndrome, congenital, type 16//scn4a congenital myasthenic syndrome//scn4a-related congenital myasthenic syndrome	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0015771	0015771	614198		C3280112		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 16"	1
3M syndrome 3	3-m syndrome caused by mutation in ccdc8//3-m syndrome, ccdc8-related//ccdc8 3-m syndrome//three m syndrome 3//three m syndrome type 3	CCDC8	CCDC8	https://raresource.nih.gov/literature/disease/0015772	0015772	614205		C3280146		coiled-coil domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3M syndrome 3"	None
Meckel syndrome, type 9	b9d1 meckel syndrome//b9d1-related meckel syndrome//meckel syndrome 9//meckel syndrome caused by mutation in b9d1//mks9	B9D1	B9D1	https://raresource.nih.gov/literature/disease/0015773	0015773	614209		C3280155		B9 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 9"	None
Neuropathy, hereditary sensory, type 2C	hereditary sensory and autonomic neuropathy type 2 caused by mutation in kif1a//hereditary sensory and autonomic neuropathy type iic//hereditary sensory neuropathy type iic//hsn2c//kif1a hereditary sensory and autonomic neuropathy type 2	KIF1A	KIF1A	https://raresource.nih.gov/literature/disease/0015774	0015774	614213		C3280168		kinesin family member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory, type 2C"	3
Adams-Oliver syndrome 2	adams-oliver syndrome caused by mutation in dock6//adams-oliver syndrome type 2//aos2//dock6 adams-oliver syndrome	DOCK6	DOCK6	https://raresource.nih.gov/literature/disease/0015775	0015775	614219		C3280182		dedicator of cytokinesis 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome 2"	5
Warburg micro syndrome 3	micro syndrome 3//rab18 warburg micro syndrome//warbm3//warburg micro syndrome caused by mutation in rab18//warburg micro syndrome type 3	RAB18	RAB18	https://raresource.nih.gov/literature/disease/0015778	0015778	614222		C3280203		RAB18, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warburg micro syndrome 3"	None
Warburg micro syndrome 2	micro syndrome 2//rab3gap2 warburg micro syndrome//warbm2//warburg micro syndrome caused by mutation in rab3gap2//warburg micro syndrome type 2	RAB3GAP2	RAB3GAP2	https://raresource.nih.gov/literature/disease/0015780	0015780	614225		C3280214		RAB3 GTPase activating non-catalytic protein subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warburg micro syndrome 2"	1
Narcolepsy 7	mog narcolepsy//narcolepsy caused by mutation in mog//narcolepsy type 7//nrclp7	MOG	MOG	https://raresource.nih.gov/literature/disease/0015783	0015783	614250		C3280266		myelin oligodendrocyte glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Narcolepsy 7"	None
Sclerosteosis 2	lrp4 sclerosteosis//sclerosteosis caused by mutation in lrp4//sclerosteosis type 2//sost2	LRP4	LRP4	https://raresource.nih.gov/literature/disease/0015786	0015786	614305		C3280402		LDL receptor related protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sclerosteosis 2"	4
Alpha-methylacyl-CoA racemase deficiency	alpha-methylacyl-coa racemase deficiency disorder//amacr//amacr deficiency//amacrd//congenital bile acid synthesis defect type 4	AMACR	AMACR	https://raresource.nih.gov/literature/disease/0015787	0015787	614307		C3280428	C565768	alpha-methylacyl-CoA racemase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-methylacyl-CoA racemase deficiency"	27
Colorectal cancer, hereditary nonpolyposis, type 6	colon cancer, hereditary nonpolyposis, type 6//colon cancer, hereditary nonpolyposis, type 6, somatic//hereditary nonpolyposis colon cancer caused by mutation in tgfbr2//tgfbr2 hereditary nonpolyposis colon cancer	TGFBR2	TGFBR2	https://raresource.nih.gov/literature/disease/0015789	0015789	614331		C1860896	C566039	transforming growth factor beta receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colorectal cancer, hereditary nonpolyposis, type 6"	None
Arthrogryposis, distal, type 1B		MYBPC1	MYBPC1	https://raresource.nih.gov/literature/disease/0015790	0015790	614335		C3280526		myosin binding protein C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 1B"	None
Lynch syndrome 4	colorectal cancer, hereditary nonpolyposis, type 4//hereditary non-polyposis colorectal cancer, type 4//hereditary nonpolyposis colon cancer caused by mutation in pms2//lynch4//pms2 hereditary nonpolyposis colon cancer//pms2-related lynch syndrome	PMS2	PMS2	https://raresource.nih.gov/literature/disease/0015791	0015791	614337		C1838333	C563971	PMS1 homolog 2, mismatch repair system component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lynch syndrome 4"	None
Lynch syndrome 5	colorectal cancer, hereditary nonpolyposis, type 5//hereditary non-polyposis colorectal cancer, type 5//hereditary nonpolyposis colon cancer caused by mutation in msh6//lynch5//msh6 hereditary nonpolyposis colon cancer//msh6-related lynch syndrome	MSH6	MSH6	https://raresource.nih.gov/literature/disease/0015792	0015792	614350		C1833477	C563456	mutS homolog 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lynch syndrome 5"	None
Surfactant metabolism dysfunction, pulmonary, 5	csf2rb deficiency//csf2rb hereditary pulmonary alveolar proteinosis//hereditary pulmonary alveolar proteinosis caused by mutation in csf2rb//pap due to csf2rb deficiency//pulmonary alveolar proteinosis 5//smdp5//surfactant metabolism dysfunction, pulmonary, type 5	CSF2RB	CSF2RB	https://raresource.nih.gov/literature/disease/0015793	0015793	614370		C3280574		colony stimulating factor 2 receptor subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Surfactant metabolism dysfunction, pulmonary, 5"	1
Amyotrophic lateral sclerosis type 16	als16//amyotrophic lateral sclerosis 16//amyotrophic lateral sclerosis 16, juvenile//amyotrophic lateral sclerosis caused by mutation in sigmar1//sigmar1 amyotrophic lateral sclerosis	SIGMAR1	SIGMAR1	https://raresource.nih.gov/literature/disease/0015794	0015794	614373		C3280587		sigma non-opioid intracellular receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 16"	1
Asphyxiating thoracic dystrophy 5	asphyxiating thoracic dystrophy type 5//atd5//jeune syndrome caused by mutation in wdr19//short-rib thoracic dysplasia 5 with or without polydactyly//short-rib thoracic dysplasia 5 without polydactyly//srtd5//wdr19 jeune syndrome	WDR19	WDR19	https://raresource.nih.gov/literature/disease/0015795	0015795	614376		C3280598		WD repeat domain 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Asphyxiating thoracic dystrophy 5"	None
Cranioectodermal dysplasia 4	ced4//cranioectodermal dysplasia type 4	WDR19	WDR19	https://raresource.nih.gov/literature/disease/0015796	0015796	614378		C3280616		WD repeat domain 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia 4"	None
Complement component 4b deficiency	c4b classic complement early component deficiency//c4b deficiency//classic complement early component deficiency caused by mutation in c4b//decreased circulating complement c4b concentration//decreased serum complement c4b	C4B	C4B	https://raresource.nih.gov/literature/disease/0015797	0015797	614379		C3280641		complement C4B (Chido/Rodgers blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 4b deficiency"	31
Complement component 4a deficiency	c4a classic complement early component deficiency//c4a deficiency//classic complement early component deficiency caused by mutation in c4a	C4A	C4A	https://raresource.nih.gov/literature/disease/0015798	0015798	614380		C3280642	C565167	complement C4A (Chido/Rodgers blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 4a deficiency"	39
Colorectal cancer, hereditary nonpolyposis, type 7	hereditary nonpolyposis colon cancer caused by mutation in mlh3//mlh3 hereditary nonpolyposis colon cancer	MLH3	MLH3	https://raresource.nih.gov/literature/disease/0015799	0015799	614385		C1858380	C565777	mutL homolog 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colorectal cancer, hereditary nonpolyposis, type 7"	None
Joubert syndrome 14	jbts14//joubert syndrome caused by mutation in tmem237//joubert syndrome type 14//tmem237 joubert syndrome//tmem237-related joubert syndrome	TMEM237	TMEM237	https://raresource.nih.gov/literature/disease/0015801	0015801	614424		C3280766		transmembrane protein 237	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 14"	None
Cutis laxa, autosomal dominant 2	adcl2//autosomal dominant cutis laxa 2//autosomal dominant cutis laxa caused by mutation in fbln5//cutis laxa, autosomal dominant type 2//fbln5 autosomal dominant cutis laxa	FBLN5	FBLN5	https://raresource.nih.gov/literature/disease/0015802	0015802	614434		C3280794		fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal dominant 2"	None
Hypoplastic left heart syndrome 2	hlhs2//hypoplastic left heart syndrome caused by mutation in nkx2-5//hypoplastic left heart syndrome type 2//nkx2-5 hypoplastic left heart syndrome	NKX2-5	NKX2-5	https://raresource.nih.gov/literature/disease/0015803	0015803	614435		C3280795		NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoplastic left heart syndrome 2"	None
Cutis laxa, autosomal recessive, type 1B	arcl1b//cutis laxa, autosomal recessive, type ib	EFEMP2	EFEMP2	https://raresource.nih.gov/literature/disease/0015804	0015804	614437		C3280798		EGF containing fibulin extracellular matrix protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal recessive, type 1B"	6
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	hypertrophic osteoarthropathy, primary, autosomal recessive, 2/enteropathy syndrome//hypertrophic osteoarthropathy, primary, autosomal recessive, type 2//pachydermoperiostosis, autosomal recessive//pdp, autosomal recessive//phoar2-enteropathy syndrome//phoar2e//primary hypertrophic osteoarthropathy caused by mutation in slco2a1//slco2a1 primary hypertrophic osteoarthropathy	SLCO2A1	SLCO2A1	https://raresource.nih.gov/literature/disease/0015805	0015805	614441		C3280800		solute carrier organic anion transporter family member 2A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic osteoarthropathy, primary, autosomal recessive, 2"	1
Joubert syndrome 15	cep41 joubert syndrome//cep41-related joubert syndrome//jbts15//joubert syndrome caused by mutation in cep41//joubert syndrome type 15	CEP41	CEP41	https://raresource.nih.gov/literature/disease/0015806	0015806	614464		C3280897		centrosomal protein 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 15"	None
Joubert syndrome 16	jbts16//joubert syndrome caused by mutation in tmem138//joubert syndrome type 16//tmem138 joubert syndrome//tmem138-related joubert syndrome	TMEM138	TMEM138	https://raresource.nih.gov/literature/disease/0015807	0015807	614465		C3280906		transmembrane protein 138	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 16"	None
Porencephaly 2	brain small vessel disease 2//bsvd2//col4a2 porencephaly//porencephaly caused by mutation in col4a2//porencephaly type 2	COL4A2	COL4A2	https://raresource.nih.gov/literature/disease/0015808	0015808	614483		C3280970		collagen type IV alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porencephaly 2"	None
Wiskott-Aldrich syndrome 2	was2//wipf1 deficiency//wipf1 wiskott-aldrich syndrome//wiskott-aldrich syndrome caused by mutation in wipf1//wiskott-aldrich syndrome type 2	WIPF1	WIPF1	https://raresource.nih.gov/literature/disease/0015809	0015809	614493		C3281001		WAS/WASL interacting protein family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wiskott-Aldrich syndrome 2"	1
Microphthalmia, isolated, with coloboma 7	abcb6 microphthalmia, isolated, with coloboma//mcopcb7//microphthalmia, isolated, with coloboma caused by mutation in abcb6//microphthalmia, isolated, with coloboma type 7//microphthalmia/coloboma 7//ocular coloboma	ABCB6	ABCB6	https://raresource.nih.gov/literature/disease/0015811	0015811	614497		C3281027		ATP binding cassette subfamily B member 6 (LAN blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma 7"	158
Cone-rod dystrophy 16	c8orf37 cone-rod dystrophy//cone-rod dystrophy caused by mutation in c8orf37//cone-rod dystrophy type 16//cord16//retinal dystrophy with early macular involvement	CFAP418	CFAP418	https://raresource.nih.gov/literature/disease/0015812	0015812	614500		C3281045		cilia and flagella associated protein 418	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 16"	None
Usher syndrome type 3B	hars usher syndrome//ush3b//usher syndrome caused by mutation in hars//usher syndrome type iiib//usher syndrome, type iiib	HARS1	HARS1	https://raresource.nih.gov/literature/disease/0015813	0015813	614504		C3281066		histidyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 3B"	3
Mirror movements 2	familial congenital mirror movements caused by mutation in rad51//mirror movements type 2//mrmv2//rad51 familial congenital mirror movements	RAD51	RAD51	https://raresource.nih.gov/literature/disease/0015814	0015814	614508		C3281089		RAD51 recombinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mirror movements 2"	None
Fibrochondrogenesis 2	col11a2 fibrochondrogenesis//fbcg2//fibrochondrogenesis caused by mutation in col11a2//fibrochondrogenesis type 2	COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0015815	0015815	614524		C3281128		collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrochondrogenesis 2"	None
Congenital stationary night blindness 1E	congenital stationary night blindness 1e autosomal recessive//congenital stationary night blindness caused by mutation in gpr179//congenital stationary night blindness type 1e//csnb1e//gpr179 congenital stationary night blindness//night blindness, congenital stationary (complete), 1e, autosomal recessive	GPR179	GPR179	https://raresource.nih.gov/literature/disease/0015816	0015816	614565		C3281215		G protein-coupled receptor 179	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1E"	None
Baraitser-winter syndrome 2	actg1 baraitser-winter cerebrofrontofacial syndrome//baraitser-winter cerebrofrontofacial syndrome caused by mutation in actg1//baraitser-winter syndrome type 2	ACTG1	ACTG1	https://raresource.nih.gov/literature/disease/0015817	0015817	614583		C3281235		actin gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Baraitser-winter syndrome 2"	2
Olmsted syndrome 1	palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1	TRPV3	TRPV3	https://raresource.nih.gov/literature/disease/0015818	0015818	614594		C5542829		transient receptor potential cation channel subfamily V member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Olmsted syndrome 1"	None
Trichohepatoenteric syndrome 2	skiv2l tricho-hepato-enteric syndrome//thes2//tricho-hepato-enteric syndrome caused by mutation in skiv2l//trichohepatoenteric syndrome type 2	SKIC2	SKIC2	https://raresource.nih.gov/literature/disease/0015819	0015819	614602		C3281289		SKI2 subunit of superkiller complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichohepatoenteric syndrome 2"	1
Intellectual disability, autosomal dominant 14	arid1a coffin-siris syndrome//arid1a-related bafopathy//autosomal dominant intellectual disability 14//autosomal dominant mental retardation 14//coffin-siris syndrome 2//coffin-siris syndrome caused by mutation in arid1a//css2//intellectual disability, autosomal dominant type 14//mental retardation, autosomal dominant type 14//mrd14	ARID1A	ARID1A	https://raresource.nih.gov/literature/disease/0015820	0015820	614607		C3553247		AT-rich interaction domain 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 14"	1
Intellectual disability, autosomal dominant 15	autosomal dominant intellectual disability 15//autosomal dominant mental retardation 15//coffin-siris syndrome 3//coffin-siris syndrome caused by mutation in smarcb1//css3//intellectual disability, autosomal dominant type 15//mental retardation, autosomal dominant type 15//mrd15//smarcb1 coffin-siris syndrome//smarcb1-related bafopathy	SMARCB1	SMARCB1	https://raresource.nih.gov/literature/disease/0015821	0015821	614608		C3553248		SWI/SNF related BAF chromatin remodeling complex subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 15"	1
Intellectual disability, autosomal dominant 16	autosomal dominant intellectual disability 16//autosomal dominant mental retardation 16//coffin-siris syndrome 4//coffin-siris syndrome caused by mutation in smarca4//css4//intellectual disability, autosomal dominant type 16//mental retardation, autosomal dominant type 16//mrd16//smarca4 coffin-siris syndrome//smarca4-related bafopathy	SMARCA4	SMARCA4	https://raresource.nih.gov/literature/disease/0015822	0015822	614609		C3553249		SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 16"	3
Acrodysostosis 2 with or without hormone resistance	acrodysostosis 2 with hormone resistance//acrodysostosis 2 without hormone resistance//acrodysostosis caused by mutation in pde4d//pde4d acrodysostosis	PDE4D	PDE4D	https://raresource.nih.gov/literature/disease/0015823	0015823	614613		C3553250		phosphodiesterase 4D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrodysostosis 2 with or without hormone resistance"	None
Joubert syndrome 17	c5orf42-related joubert syndrome//cplane1 joubert syndrome//jbts17//joubert syndrome caused by mutation in cplane1//joubert syndrome type 17	CPLANE1	CPLANE1	https://raresource.nih.gov/literature/disease/0015824	0015824	614615		C3553264		ciliogenesis and planar polarity effector complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 17"	1
Hyperekplexia 3	hereditary hyperekplexia caused by mutation in slc6a5//hkpx3//hyperekplexia 3, autosomal dominant//hyperekplexia 3, autosomal recessive//hyperekplexia type 3//slc6a5 hereditary hyperekplexia//slc6a5-related hyperekplexia	SLC6A5	SLC6A5	https://raresource.nih.gov/literature/disease/0015825	0015825	614618		C3553288		solute carrier family 6 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperekplexia 3"	None
Hyperekplexia 2	glrb hereditary hyperekplexia//glrb-related hyperekplexia//hereditary hyperekplexia caused by mutation in glrb//hkpx2//hyperekplexia type 2	GLRB	GLRB	https://raresource.nih.gov/literature/disease/0015826	0015826	614619		C3553291		glycine receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperekplexia 2"	2
UV-sensitive syndrome 2	ercc8 uv-sensitive syndrome//uv-sensitive syndrome caused by mutation in ercc8//uv-sensitive syndrome type 2//uvss2	ERCC8	ERCC8	https://raresource.nih.gov/literature/disease/0015827	0015827	614621		C3553298		ERCC excision repair 8, CSA ubiquitin ligase complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UV-sensitive syndrome 2"	None
UV-sensitive syndrome 3	uv-sensitive syndrome caused by mutation in uvssa//uv-sensitive syndrome type 3//uvss3//uvssa uv-sensitive syndrome	UVSSA	UVSSA	https://raresource.nih.gov/literature/disease/0015828	0015828	614640		C3553328		UV stimulated scaffold protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UV-sensitive syndrome 3"	1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a7//ispd muscular dystrophy-dystroglycanopathy, type a//ispd-related muscle diseases//muscular dystrophy-dystroglycanopathy, type a caused by mutation in ispd//walker-warburg syndrome or muscle-eye-brain disease, ispd-related	CRPPA	CRPPA	https://raresource.nih.gov/literature/disease/0015829	0015829	614643		C3553330		CDP-L-ribitol pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"	None
Cortisone reductase deficiency 2	11-beta-hydroxysteroid dehydrogenase type 1 deficiency//cortisone reductase deficiency caused by mutation in hsd11b1//cortisone reductase deficiency type 2//cortrd2//hsd11b1 cortisone reductase deficiency	HSD11B1	HSD11B1	https://raresource.nih.gov/literature/disease/0015830	0015830	614662		C3553382		hydroxysteroid 11-beta dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cortisone reductase deficiency 2"	None
Auriculocondylar syndrome 2	arcnd2a//auriculocondylar syndrome 2a//auriculocondylar syndrome caused by mutation in plcb4//auriculocondylar syndrome type 2//plcb4 auriculocondylar syndrome	PLCB4	PLCB4	https://raresource.nih.gov/literature/disease/0015831	0015831	614669		C3553404		phospholipase C beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome 2"	4
Dilated cardiomyopathy 2B	cardiomyopathy, dilated, type 2b//cmd2b//dilated cardiomyopathy type 2b//familial isolated dilated cardiomyopathy caused by mutation in gatad1//gatad1 familial isolated dilated cardiomyopathy	GATAD1	GATAD1	https://raresource.nih.gov/literature/disease/0015832	0015832	614672		C3553409		GATA zinc finger domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 2B"	None
Microcephaly 8, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cep135//cep135 autosomal recessive primary microcephaly	CEP135	CEP135	https://raresource.nih.gov/literature/disease/0015833	0015833	614673		C3553414		centrosomal protein 135	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 8, primary, autosomal recessive"	None
Pontocerebellar hypoplasia type 1B	exosc3 non-syndromic pontocerebellar hypoplasia//non-syndromic pontocerebellar hypoplasia caused by mutation in exosc3	EXOSC3	EXOSC3	https://raresource.nih.gov/literature/disease/0015834	0015834	614678		C3553449		exosome component 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 1B"	16
Primary ciliary dyskinesia 17	ccdc103 primary ciliary dyskinesia//cild17//ciliary dyskinesia, primary, 17, with or without situs inversus//ciliary dyskinesia, primary, type 17//primary ciliary dyskinesia 17 with or without situs inversus//primary ciliary dyskinesia caused by mutation in ccdc103//primary ciliary dyskinesia type 17//primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia	DNAAF19	DNAAF19	https://raresource.nih.gov/literature/disease/0015835	0015835	614679		C3542550		dynein axonemal assembly factor 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 17"	None
Immunodeficiency, common variable, 7	immunodeficiency, common variable, type 7	CR2	CR2	https://raresource.nih.gov/literature/disease/0015836	0015836	614699		C3542922		complement C3d receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 7"	None
Cornelia de Lange syndrome 4	cdls4//cornelia de lange syndrome 4 with or without midline brain defects//cornelia de lange syndrome caused by mutation in rad21//cornelia de lange syndrome type 4//rad21 cornelia de lange syndrome//rad21-related cornelia de lange syndrome	RAD21	RAD21	https://raresource.nih.gov/literature/disease/0015837	0015837	614701		C3553517		RAD21 cohesin complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornelia de Lange syndrome 4"	9
Porokeratosis 7, multiple types	porok7//porokeratosis 7, disseminated superficial actinic type	MVD	MVD	https://raresource.nih.gov/literature/disease/0015838	0015838	614714		C3553549		mevalonate diphosphate decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 7, multiple types"	None
Prostate cancer, hereditary, 2	elac2 familial prostate cancer//familial prostate cancer caused by mutation in elac2//hpc2//prostate cancer, hereditary, 2, susceptibility to//prostate cancer, hereditary, type 2	ELAC2	ELAC2	https://raresource.nih.gov/literature/disease/0015839	0015839	614731		C3539120		elaC ribonuclease Z 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prostate cancer, hereditary, 2"	None
Glucocorticoid deficiency 4	familial glucocorticoid deficiency caused by mutation in nnt//glucocorticoid deficiency 4 with or without mineralocorticoid deficiency//glucocorticoid deficiency 4, with or without mineralocorticoid deficiency//glucocorticoid deficiency type 4//nnt familial glucocorticoid deficiency	NNT	NNT	https://raresource.nih.gov/literature/disease/0015840	0015840	614736		C3553587		nicotinamide nucleotide transhydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid deficiency 4"	None
Amyotrophic lateral sclerosis type 18	als18//amyotrophic lateral sclerosis 18//amyotrophic lateral sclerosis caused by mutation in pfn1//pfn1 amyotrophic lateral sclerosis//pfn1-related amyotrophic lateral sclerosis	PFN1	PFN1	https://raresource.nih.gov/literature/disease/0015841	0015841	614808		C3553719		profilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 18"	2
Adams-Oliver syndrome 3	adams-oliver syndrome caused by mutation in rbpj//adams-oliver syndrome type 3//aos3//rbpj adams-oliver syndrome	RBPJ	RBPJ	https://raresource.nih.gov/literature/disease/0015842	0015842	614814		C3553748		recombination signal binding protein for immunoglobulin kappa J region	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome 3"	1
Joubert syndrome 18	jbts18//joubert syndrome caused by mutation in tctn3//joubert syndrome type 18//tctn3 joubert syndrome//tctn3-related joubert syndrome	TCTN3	TCTN3	https://raresource.nih.gov/literature/disease/0015843	0015843	614815		C3553758		tectonic family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 18"	None
Weill-Marchesani syndrome 3	ltbp2 weill-marchesani syndrome//ltbp2-related weill-marchesani syndrome//weill-marchesani syndrome 3, recessive//weill-marchesani syndrome caused by mutation in ltbp2//weill-marchesani syndrome type 3//wms3	LTBP2	LTBP2	https://raresource.nih.gov/literature/disease/0015844	0015844	614819		C3553785		latent transforming growth factor beta binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weill-Marchesani syndrome 3"	None
Alternating hemiplegia of childhood 2	ahc2//alternating hemiplegia of childhood (ahc)//alternating hemiplegia of childhood caused by mutation in atp1a3//alternating hemiplegia of childhood type 2//atp1a3 alternating hemiplegia of childhood	ATP1A3	ATP1A3	https://raresource.nih.gov/literature/disease/0015845	0015845	614820		C3553788		ATPase Na+/K+ transporting subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alternating hemiplegia of childhood 2"	4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	mddga8//muscle-eye-brain-pomgnt2 related//muscular dystrophy-dystroglycanopathy, type a caused by mutation in pomgnt2//pomgnt2 muscular dystrophy-dystroglycanopathy, type a//walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related	POMGNT2	POMGNT2	https://raresource.nih.gov/literature/disease/0015846	0015846	614830		C3553813		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"	None
Amelogenesis imperfecta hypomaturation type 2A4	ai2a4//amelogenesis imperfecta caused by mutation in odaph//amelogenesis imperfecta hypomaturation type iia4//amelogenesis imperfecta type iia4//amelogenesis imperfecta, hypomaturation type, iia4//amelogenesis imperfecta, type iia4//odaph amelogenesis imperfecta	ODAPH	ODAPH	https://raresource.nih.gov/literature/disease/0015847	0015847	614832		C3553830		odontogenesis associated phosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta hypomaturation type 2A4"	None
Hypogonadotropic hypogonadism 8 with or without anosmia	hh8//hypogonadotropic hypogonadism 8 with anosmia, susceptibility to//hypogonadotropic hypogonadism caused by mutation in kiss1r//kiss1r hypogonadotropic hypogonadism//kiss1r-related isolated gonadotropin-releasing hormone (gnrh) deficiency	KISS1R	KISS1R	https://raresource.nih.gov/literature/disease/0015849	0015849	614837		C3553841		KISS1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 8 with or without anosmia"	None
Hypogonadotropic hypogonadism 9 with or without anosmia	hh9//hypogonadotropic hypogonadism 9 with anosmia, susceptibility to//hypogonadotropic hypogonadism 9 without anosmia, susceptibility to//hypogonadotropic hypogonadism caused by mutation in nsmf//nelf-related hypogonadotropic hypogonadism//nsmf hypogonadotropic hypogonadism	NSMF	NSMF	https://raresource.nih.gov/literature/disease/0015850	0015850	614838		C3553842		NMDA receptor synaptonuclear signaling and neuronal migration factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 9 with or without anosmia"	None
Hypogonadotropic hypogonadism 11 with or without anosmia	hh11//hypogonadotropic hypogonadism 11 without anosmia//hypogonadotropic hypogonadism caused by mutation in tacr3//tacr3 hypogonadotropic hypogonadism//tacr3-related isolated gonadotropin-releasing hormone (gnrh) deficiency	TACR3	TACR3	https://raresource.nih.gov/literature/disease/0015851	0015851	614840		C3553844		tachykinin receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 11 with or without anosmia"	None
Nephronophthisis 15	cep164 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in cep164//nephronophthisis type 15//nphp15	CEP164	CEP164	https://raresource.nih.gov/literature/disease/0015852	0015852	614845		C3541853		centrosomal protein 164	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 15"	1
Microcephaly 9, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cep152//cep152 autosomal recessive primary microcephaly	CEP152	CEP152	https://raresource.nih.gov/literature/disease/0015855	0015855	614852		C3553886		centrosomal protein 152	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 9, primary, autosomal recessive"	None
Osteogenesis imperfecta type 13	bmp1 osteogenesis imperfecta//bmp1-related osteogenesis imperfecta//oi, type xiii//oi13//osteogenesis imperfecta caused by mutation in bmp1//osteogenesis imperfecta type xiii//osteogenesis imperfecta, type xiii	BMP1	BMP1	https://raresource.nih.gov/literature/disease/0015856	0015856	614856		C3553887		bone morphogenetic protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 13"	2
Hypogonadotropic hypogonadism 14 with or without anosmia	hh14//hypogonadotropic hypogonadism 14 without anosmia//hypogonadotropic hypogonadism caused by mutation in wdr11//wdr11 hypogonadotropic hypogonadism	WDR11	WDR11	https://raresource.nih.gov/literature/disease/0015857	0015857	614858		C3540450		WD repeat domain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 14 with or without anosmia"	None
Peroxisome biogenesis disorder 3A (Zellweger)	peroxisomal biogenesis disorder 3a (zellweger)//peroxisome biogenesis disorder 3a	PEX12	PEX12	https://raresource.nih.gov/literature/disease/0015858	0015858	614859		C3553929	C566633	peroxisomal biogenesis factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 3A (Zellweger)"	None
Peroxisome biogenesis disorder 4A (Zellweger)	classic peroxisome biogenesis disorder//pbd4a//zellweger syndrome spectrum (pex6-related)	PEX6	PEX6	https://raresource.nih.gov/literature/disease/0015859	0015859	614862		C3553936	C563301	peroxisomal biogenesis factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 4A (Zellweger)"	None
Peroxisome biogenesis disorder 4B	autosomal recessive cerebellar ataxia-blindness-deafness syndrome//autosomal recessive spinocerebellar ataxia type 3//autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome//pbd4b//peroxisome biogenesis disorder type 4b//scabd//scar3//spinocerebellar ataxia autosomal recessive 3//spinocerebellar ataxia with blindness and deafness 1//spinocerebellar ataxia, autosomal recessive 3	PEX6	PEX6	https://raresource.nih.gov/literature/disease/0015860	0015860	614863	95433	C3553937	C537309	peroxisomal biogenesis factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 4B"	1
Peroxisome biogenesis disorder 5A (Zellweger)	pbd5a	PEX2	PEX2	https://raresource.nih.gov/literature/disease/0015861	0015861	614866		C3553940		peroxisomal biogenesis factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 5A (Zellweger)"	None
Peroxisome biogenesis disorder 5B	pbd5b//peroxisome biogenesis disorder type 5b	PEX2	PEX2	https://raresource.nih.gov/literature/disease/0015862	0015862	614867		C3542026		peroxisomal biogenesis factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 5B"	None
Usher syndrome type 1J	cib2 usher syndrome//ush1j//usher syndrome caused by mutation in cib2//usher syndrome type ij	CIB2	CIB2	https://raresource.nih.gov/literature/disease/0015863	0015863			C3553944		calcium and integrin binding family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1J"	6
Peroxisome biogenesis disorder 6A (Zellweger)	peroxisome biogenesis disorder 6a	PEX10	PEX10	https://raresource.nih.gov/literature/disease/0015864	0015864	614870		C3553947	C566422	peroxisomal biogenesis factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 6A (Zellweger)"	None
Peroxisome biogenesis disorder 6B	pbd6b//peroxisome biogenesis disorder type 6b	PEX10	PEX10	https://raresource.nih.gov/literature/disease/0015865	0015865	614871		C3553948		peroxisomal biogenesis factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 6B"	1
Peroxisome biogenesis disorder 7A (Zellweger)	peroxisome biogenesis disorder 7a	PEX26	PEX26	https://raresource.nih.gov/literature/disease/0015866	0015866	614872		C3888385		peroxisomal biogenesis factor 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 7A (Zellweger)"	None
Peroxisome biogenesis disorder 7B	pbd7b//peroxisome biogenesis disorder type 7b	PEX26	PEX26	https://raresource.nih.gov/literature/disease/0015867	0015867	614873		C3553951		peroxisomal biogenesis factor 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 7B"	None
Primary ciliary dyskinesia 18	cild18//ciliary dyskinesia, primary, 18, with or without situs inversus//ciliary dyskinesia, primary, type 18//dnaaf5 primary ciliary dyskinesia//primary ciliary dyskinesia 18 with or without situs inversus//primary ciliary dyskinesia caused by mutation in dnaaf5//primary ciliary dyskinesia type 18//primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia	DNAAF5	DNAAF5	https://raresource.nih.gov/literature/disease/0015868	0015868	614874		C3543825		dynein axonemal assembly factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 18"	None
Peroxisome biogenesis disorder 8A (Zellweger)	peroxisome biogenesis disorder 8a	PEX16	PEX16	https://raresource.nih.gov/literature/disease/0015869	0015869	614876		C3553959		peroxisomal biogenesis factor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 8A (Zellweger)"	1
Peroxisome biogenesis disorder 8B	pbd8b//peroxisome biogenesis disorder type 8b	PEX16	PEX16	https://raresource.nih.gov/literature/disease/0015870	0015870	614877		C3553960		peroxisomal biogenesis factor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 8B"	None
Peroxisome biogenesis disorder 9B	peroxisome biogenesis disorder type 9b//peroxisome biogenesis disorder, pex7-related, atypical//refsum disease, adult, 2	PEX7	PEX7	https://raresource.nih.gov/literature/disease/0015871	0015871	614879		C2749346		peroxisomal biogenesis factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 9B"	None
Hypogonadotropic hypogonadism 15 with or without anosmia	hh15//hs6st1 hypogonadotropic hypogonadism//hypogonadotropic hypogonadism caused by mutation in hs6st1	HS6ST1	HS6ST1	https://raresource.nih.gov/literature/disease/0015872	0015872	614880		C3553977		heparan sulfate 6-O-sulfotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 15 with or without anosmia"	None
Peroxisome biogenesis disorder 10A (Zellweger)	peroxisome biogenesis disorder 10a	PEX3	PEX3	https://raresource.nih.gov/literature/disease/0015873	0015873	614882		C3553999		peroxisomal biogenesis factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 10A (Zellweger)"	None
Peroxisome biogenesis disorder 11A (Zellweger)	peroxisome biogenesis disorder 11a	PEX13	PEX13	https://raresource.nih.gov/literature/disease/0015874	0015874	614883		C3554000		peroxisomal biogenesis factor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 11A (Zellweger)"	None
Peroxisome biogenesis disorder 11B	pbd11b//peroxisome biogenesis disorder type 11b	PEX13	PEX13	https://raresource.nih.gov/literature/disease/0015875	0015875	614885		C3554001		peroxisomal biogenesis factor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 11B"	None
Peroxisome biogenesis disorder 12A (Zellweger)	peroxisome biogenesis disorder 12a	PEX19	PEX19	https://raresource.nih.gov/literature/disease/0015876	0015876	614886		C3554002		peroxisomal biogenesis factor 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 12A (Zellweger)"	None
Peroxisome biogenesis disorder 13A (Zellweger)	peroxisome biogenesis disorder 13a	PEX14	PEX14	https://raresource.nih.gov/literature/disease/0015877	0015877	614887		C3554004	C566624	peroxisomal biogenesis factor 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 13A (Zellweger)"	None
Hypogonadotropic hypogonadism 16 with or without anosmia	hh16//hypogonadotropic hypogonadism 16 with anosmia, susceptibility to//hypogonadotropic hypogonadism caused by mutation in sema3a//sema3a hypogonadotropic hypogonadism	SEMA3A	SEMA3A	https://raresource.nih.gov/literature/disease/0015878	0015878	614897		C3554021		semaphorin 3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 16 with or without anosmia"	None
Diamond-Blackfan anemia 11	dba11//diamond-blackfan anaemia caused by mutation in rpl26//diamond-blackfan anaemia type 11//diamond-blackfan anemia caused by mutation in rpl26//diamond-blackfan anemia type 11//rpl26 diamond-blackfan anaemia//rpl26 diamond-blackfan anemia//rpl26-related diamond-blackfan anemia	RPL26	RPL26	https://raresource.nih.gov/literature/disease/0015879	0015879	614900		C3554042		ribosomal protein L26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 11"	None
Catecholaminergic polymorphic ventricular tachycardia 4	calm1 catecholaminergic polymorphic ventricular tachycardia//calm1-related catecholaminergic polymorphic ventricular tachycardia//catecholaminergic polymorphic ventricular tachycardia caused by mutation in calm1//catecholaminergic polymorphic ventricular tachycardia type 4//cvpt4//ventricular tachycardia, catecholaminergic polymorphic, type 4	CALM1	CALM1	https://raresource.nih.gov/literature/disease/0015880	0015880	614916		C3554047		calmodulin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia 4"	1
Peroxisome biogenesis disorder 14B	peroxisome biogenesis disorder type 14b//pex11b peroxisome biogenesis disorder//pex14b	PEX11B	PEX11B	https://raresource.nih.gov/literature/disease/0015881	0015881	614920		C3554055		peroxisomal biogenesis factor 11 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 14B"	2
Perrault syndrome 2	hars2 perrault syndrome//perrault syndrome caused by mutation in hars2//perrault syndrome type 2//prlts2	HARS2	HARS2	https://raresource.nih.gov/literature/disease/0015882	0015882	614926	642976	C3554105		histidyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 2"	3
Primary ciliary dyskinesia 19	cild19//ciliary dyskinesia, primary, 19, with or without situs inversus//ciliary dyskinesia, primary, type 19//lrrc6 primary ciliary dyskinesia//primary ciliary dyskinesia 19 with or without situs inversus//primary ciliary dyskinesia caused by mutation in lrrc6//primary ciliary dyskinesia type 19//primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia	DNAAF11	DNAAF11	https://raresource.nih.gov/literature/disease/0015883	0015883	614935		C3543826		dynein axonemal assembly factor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 19"	None
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		EDARADD	EDARADD	https://raresource.nih.gov/literature/disease/0015885	0015885	614941		C3539920		EDAR associated via death domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	None
Developmental and epileptic encephalopathy, 14	dee14//early infantile epileptic encephalopathy 14//early infantile epileptic encephalopathy caused by mutation in kcnt1//eiee14//epileptic encephalopathy, early infantile, 14//epileptic encephalopathy, early infantile, type 14//kcnt1 early infantile epileptic encephalopathy	KCNT1	KCNT1	https://raresource.nih.gov/literature/disease/0015886	0015886	614959		C3554195		potassium sodium-activated channel subfamily T member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 14"	None
Joubert syndrome 20	jbts20//joubert syndrome caused by mutation in tmem231//joubert syndrome type 20//tmem231 joubert syndrome//tmem231-related joubert syndrome	TMEM231	TMEM231	https://raresource.nih.gov/literature/disease/0015887	0015887	614970		C3554235		transmembrane protein 231	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 20"	None
Cholestasis, intrahepatic, of pregnancy, 3	cholestasis, intrahepatic, of pregnancy type 3	ABCB4	ABCB4	https://raresource.nih.gov/literature/disease/0015888	0015888	614972		C3554241		ATP binding cassette subfamily B member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, intrahepatic, of pregnancy, 3"	None
MEGF8-related Carpenter syndrome	carpenter syndrome 2//carpenter syndrome caused by mutation in megf8//carpenter syndrome type 2//megf8 carpenter syndrome	MEGF8	MEGF8	https://raresource.nih.gov/literature/disease/0015889	0015889	614976		C3554247		multiple EGF like domains 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEGF8-related Carpenter syndrome"	None
Autosomal dominant nocturnal frontal lobe epilepsy 5	autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in kcnt1//autosomal dominant nocturnal frontal lobe epilepsy type 5//ciliary dyskinesia, primary, 28, with situs inversus//ciliary dyskinesia, primary, 28, without situs inversus//enfl5//epilepsy nocturnal frontal lobe, 5//epilepsy, nocturnal frontal lobe, 5//epilepsy, nocturnal frontal lobe, type 5//kcnt1 autosomal dominant nocturnal frontal lobe epilepsy//nocturnal frontal lobe epilepsy 5	KCNT1	KCNT1	https://raresource.nih.gov/literature/disease/0015891	0015891	615005		C3554306		potassium sodium-activated channel subfamily T member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nocturnal frontal lobe epilepsy 5"	None
Developmental and epileptic encephalopathy, 15	dee15//early infantile epileptic encephalopathy 15//eiee15//epileptic encephalopathy, early infantile, 15//epileptic encephalopathy, early infantile, type 15	ST3GAL3	ST3GAL3	https://raresource.nih.gov/literature/disease/0015892	0015892	615006		C3554316		ST3 beta-galactoside alpha-2,3-sialyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 15"	2
Basal ganglia calcification, idiopathic, 4	basal ganglia calcification, idiopathic, type 4//familial idiopathic basal ganglia calcification 4//ibgc4//primary familial brain calcification 4	PDGFRB	PDGFRB	https://raresource.nih.gov/literature/disease/0015893	0015893	615007		C3554321		platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 4"	None
Aicardi-Goutieres syndrome 6	adar aicardi-goutieres syndrome//ags6//aicardi-goutieres syndrome caused by mutation in adar//aicardi-goutieres syndrome type 6	ADAR	ADAR	https://raresource.nih.gov/literature/disease/0015894	0015894	615010		C3539013		adenosine deaminase RNA specific	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 6"	5
Autosomal recessive congenital ichthyosis 9	arci9//autosomal recessive congenital ichthyosis type 9//ichthyosis, congenital, autosomal recessive type 9	CERS3	CERS3	https://raresource.nih.gov/literature/disease/0015896	0015896	615023		C3554349		ceramide synthase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 9"	None
Autosomal recessive congenital ichthyosis 10	arci10//autosomal recessive congenital ichthyosis type 10//ichthyosis, congenital, autosomal recessive type 10	PNPLA1	PNPLA1	https://raresource.nih.gov/literature/disease/0015897	0015897	615024		C3554355		patatin like domain 1, omega-hydroxyceramide transacylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 10"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	mddga10//muscular dystrophy-dystroglycanopathy, type a caused by mutation in rxylt1//rxylt1 muscular dystrophy-dystroglycanopathy, type a//walker-warburg syndrome or muscle-eye-brain disease, tmem5-related	RXYLT1	RXYLT1	https://raresource.nih.gov/literature/disease/0015898	0015898	615041		C3554381		ribitol xylosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10"	None
Congenital stationary night blindness 1F	congenital stationary night blindness 1f autosomal recessive//congenital stationary night blindness caused by mutation in lrit3//congenital stationary night blindness type 1f//csnb1f//lrit3 congenital stationary night blindness//night blindness, congenital stationary (complete), 1f, autosomal recessive	LRIT3	LRIT3	https://raresource.nih.gov/literature/disease/0015899	0015899	615058		C3554399		leucine rich repeat, Ig-like and transmembrane domains 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1F"	1
Hypotrichosis 11	hypotrichosis caused by mutation in snrpe//hypotrichosis type 11//hypt11//snrpe hypotrichosis	SNRPE	SNRPE	https://raresource.nih.gov/literature/disease/0015900	0015900	615059		C3554409		small nuclear ribonucleoprotein polypeptide E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 11"	None
Osteogenesis imperfecta type 14	oi, type xiv//oi14//osteogenesis imperfecta caused by mutation in tmem38b//osteogenesis imperfecta type xiv//osteogenesis imperfecta, type xiv//tmem38b osteogenesis imperfecta	TMEM38B	TMEM38B	https://raresource.nih.gov/literature/disease/0015901	0015901	615066		C3554428		transmembrane protein 38B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 14"	8
Primary ciliary dyskinesia 20	ccdc114 primary ciliary dyskinesia//cild20//ciliary dyskinesia, primary, 20, with or without situs inversus//ciliary dyskinesia, primary, type 20//primary ciliary dyskinesia 20 with or without situs inversus//primary ciliary dyskinesia caused by mutation in ccdc114//primary ciliary dyskinesia type 20	ODAD1	ODAD1	https://raresource.nih.gov/literature/disease/0015902	0015902	615067		C3540844		outer dynein arm docking complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 20"	None
Brachydactyly type A1C	bda1c//brachydactyly type a1 caused by mutation in gdf5//gdf5 brachydactyly type a1	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0015903	0015903	615072		C3554446		growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type A1C"	None
Spermatogenic failure 11	azoospermia caused by mutation in klhl10//klhl10 azoospermia//spermatogenic failure type 11//spgf11	KLHL10	KLHL10	https://raresource.nih.gov/literature/disease/0015904	0015904	615081		C3554453		kelch like family member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 11"	None
Autosomal recessive osteopetrosis 8	autosomal recessive malignant osteopetrosis caused by mutation in snx10//autosomal recessive osteopetrosis caused by mutation in snx10//autosomal recessive osteopetrosis type 8//optb8//osteopetrosis, autosomal recessive type 8//snx10 autosomal recessive malignant osteopetrosis//snx10 autosomal recessive osteopetrosis	SNX10	SNX10	https://raresource.nih.gov/literature/disease/0015905	0015905	615085		C3554478		sorting nexin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive osteopetrosis 8"	None
Left ventricular noncompaction 7	left ventricular noncompaction caused by mutation in mib1//left ventricular noncompaction type 7//lvnc7//mib1 left ventricular noncompaction	MIB1	MIB1	https://raresource.nih.gov/literature/disease/0015906	0015906	615092		C3554496		MIB E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Left ventricular noncompaction 7"	None
Urofacial syndrome 2	lrig2 ochoa syndrome//lrig2-related urofacial syndrome//ochoa syndrome caused by mutation in lrig2//ufs2//urofacial syndrome type 2	LRIG2	LRIG2	https://raresource.nih.gov/literature/disease/0015907	0015907	615112		C3554520		leucine rich repeats and immunoglobulin like domains 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Urofacial syndrome 2"	None
Congenital myasthenic syndrome 8	agrn congenital myasthenic syndrome//cms8//congenital myasthenic syndrome 8 with pre- and postsynaptic defects//congenital myasthenic syndrome caused by mutation in agrn//congenital myasthenic syndrome due to agrin deficiency//congenital myasthenic syndrome type 8//myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects//myasthenic syndrome, congenital, due to agrin deficiency//myasthenic syndrome, congenital, type 8	AGRN	AGRN	https://raresource.nih.gov/literature/disease/0015908	0015908	615120		C3808739		agrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 8"	None
Microphthalmia, isolated, with coloboma 9	mcopcb9//microphthalmia, isolated, with coloboma caused by mutation in tenm3//microphthalmia, isolated, with coloboma type 9//microphthalmia, syndromic 15//tenm3 microphthalmia, isolated, with coloboma	TENM3	TENM3	https://raresource.nih.gov/literature/disease/0015909	0015909	615145		C3554592		teneurin transmembrane protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma 9"	None
Mitochondrial complex III deficiency nuclear type 2	mc3dn2//mitochondrial complex iii deficiency caused by mutation in ttc19//ttc19 mitochondrial complex iii deficiency	TTC19	TTC19	https://raresource.nih.gov/literature/disease/0015910	0015910	615157		C3554605		tetratricopeptide repeat domain 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 2"	1
Mitochondrial complex III deficiency nuclear type 3	mitochondrial complex iii deficiency caused by mutation in uqcrb//mitochondrial respiratory chain complex iii deficiency, uqcrb-related//uqcrb mitochondrial complex iii deficiency	UQCRB	UQCRB	https://raresource.nih.gov/literature/disease/0015911	0015911	615158		C3554606		ubiquinol-cytochrome c reductase binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 3"	None
Mitochondrial complex III deficiency nuclear type 4	mitochondrial complex iii deficiency caused by mutation in uqcrq//mitochondrial respiratory chain complex iii deficiency, uqcrq related//uqcrq mitochondrial complex iii deficiency	UQCRQ	UQCRQ	https://raresource.nih.gov/literature/disease/0015912	0015912	615159		C3554607		ubiquinol-cytochrome c reductase complex III subunit VII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 4"	None
Mitochondrial complex III deficiency nuclear type 5	mitochondrial complex iii deficiency caused by mutation in uqcrc2//uqcrc2 mitochondrial complex iii deficiency	UQCRC2	UQCRC2	https://raresource.nih.gov/literature/disease/0015913	0015913	615160		C3554608		ubiquinol-cytochrome c reductase core protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 5"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	b3galnt2 muscular dystrophy-dystroglycanopathy, type a//congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a11//mddga11//muscular dystrophy-dystroglycanopathy, type a caused by mutation in b3galnt2//walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related	B3GALNT2	B3GALNT2	https://raresource.nih.gov/literature/disease/0015915	0015915	615181		C3554638		beta-1,3-N-acetylgalactosaminyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"	None
Dilated cardiomyopathy 1II	cardiomyopathy, dilated, type 1ii//cmd1ii//cryab familial isolated dilated cardiomyopathy//dilated cardiomyopathy type 1ii//familial isolated dilated cardiomyopathy caused by mutation in cryab	CRYAB	CRYAB	https://raresource.nih.gov/literature/disease/0015916	0015916	615184		C3554649		crystallin alpha B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1II"	None
Dyskeratosis congenita, autosomal recessive 5	dkcb5//dyskeratosis congenita, autosomal recessive type 5	RTEL1	RTEL1	https://raresource.nih.gov/literature/disease/0015917	0015917	615190		C3554656		regulator of telomere elongation helicase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 5"	None
Agammaglobulinemia 7, autosomal recessive	agammaglobulinemia, autosomal recessive, due to pik3r1 defect//agm7//autosomal agammaglobulinemia caused by mutation in pik3r1//pik3r1 autosomal agammaglobulinemia	PIK3R1	PIK3R1	https://raresource.nih.gov/literature/disease/0015918	0015918	615214		C3554689		phosphoinositide-3-kinase regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 7, autosomal recessive"	None
Osteogenesis imperfecta type 15	oi, type xv//oi15//osteogenesis imperfecta caused by mutation in wnt1//osteogenesis imperfecta type xv//osteogenesis imperfecta, type xv//wnt1 osteogenesis imperfecta//wnt1-related osteogenesis imperfecta	WNT1	WNT1	https://raresource.nih.gov/literature/disease/0015919	0015919	615220		C3808844		Wnt family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 15"	4
Smith-McCort dysplasia 2	rab33b smith-mccort dysplasia//smc2//smith-mccort dysplasia caused by mutation in rab33b//smith-mccort dysplasia type 2	RAB33B	RAB33B	https://raresource.nih.gov/literature/disease/0015921	0015921	615222		C3714896		RAB33B, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-McCort dysplasia 2"	3
Advanced sleep phase syndrome 2	advanced sleep phase syndrome caused by mutation in csnk1d//advanced sleep phase syndrome type 2//advanced sleep phase syndrome, familial, 2//advanced sleep phase syndrome, familial, type 2//advanced sleep-phase syndrome, familial, 2//csnk1d advanced sleep phase syndrome//familial advanced sleep phase syndrome 2//fasps2	CSNK1D	CSNK1D	https://raresource.nih.gov/literature/disease/0015922	0015922	615224		C3808874		casein kinase 1 delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Advanced sleep phase syndrome 2"	None
Retinitis pigmentosa 66	rbp3 retinitis pigmentosa//retinitis pigmentosa caused by mutation in rbp3//retinitis pigmentosa type 66//rp66	RBP3	RBP3	https://raresource.nih.gov/literature/disease/0015923	0015923	615233		C3715216		retinol binding protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 66"	None
Dilated cardiomyopathy 1JJ	cardiomyopathy, dilated, type 1jj//cmd1jj//dilated cardiomyopathy type 1jj//familial isolated dilated cardiomyopathy caused by mutation in lama4//lama4 familial isolated dilated cardiomyopathy	LAMA4	LAMA4	https://raresource.nih.gov/literature/disease/0015924	0015924	615235		C3808935		laminin subunit alpha 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1JJ"	None
Nephrotic syndrome, type 8	arhgdia nephrotic syndrome//nephrotic syndrome caused by mutation in arhgdia//nphs8	ARHGDIA	ARHGDIA	https://raresource.nih.gov/literature/disease/0015925	0015925	615244		C3808953		Rho GDP dissociation inhibitor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 8"	None
Dilated cardiomyopathy 1KK	cardiomyopathy, dilated, type 1kk//cardiomyopathy, hypertrophic, 22//cmd1kk//dilated cardiomyopathy caused by mutation in mypn//dilated cardiomyopathy type 1kk//mypn dilated cardiomyopathy	MYPN	MYPN	https://raresource.nih.gov/literature/disease/0015926	0015926	615248		C3714995		myopalladin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1KK"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	mddga12//muscular dystrophy-dystroglycanopathy, type a caused by mutation in pomk//pomk muscular dystrophy-dystroglycanopathy, type a//walker-warburg syndrome or muscle-eye-brain disease, pomk-related	POMK	POMK	https://raresource.nih.gov/literature/disease/0015927	0015927	615249		C3808964		protein O-mannose kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	1
Hypogonadotropic hypogonadism 17 with or without anosmia	hh17//hypogonadotropic hypogonadism 17 with anosmia//hypogonadotropic hypogonadism 17 with or without anosmia, susceptibility to//hypogonadotropic hypogonadism 17 without anosmia//hypogonadotropic hypogonadism caused by mutation in spry4//spry4 hypogonadotropic hypogonadism	SPRY4	SPRY4	https://raresource.nih.gov/literature/disease/0015928	0015928	615266		C3808971		sprouty RTK signaling antagonist 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 17 with or without anosmia"	None
Hypogonadotropic hypogonadism 18 with or without anosmia	hh18//hypogonadotropic hypogonadism 18 with or without anosmia, autosomal recessive, autosomal dominant, digenic dominant//hypogonadotropic hypogonadism caused by mutation in il17rd//il17rd hypogonadotropic hypogonadism	IL17RD	IL17RD	https://raresource.nih.gov/literature/disease/0015929	0015929	615267		C3808975		interleukin 17 receptor D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 18 with or without anosmia"	None
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	atp8a2 dysequilibrium syndrome//camrq4//cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4//cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4//cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4//cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4//dysequilibrium syndrome caused by mutation in atp8a2	ATP8A2	ATP8A2	https://raresource.nih.gov/literature/disease/0015930	0015930	615268		C3808977		ATPase phospholipid transporting 8A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4"	6
Hypogonadotropic hypogonadism 19 with or without anosmia	dusp6 hypogonadotropic hypogonadism//hh19//hypogonadotropic hypogonadism 19 with anosmia//hypogonadotropic hypogonadism 19 with anosmia, susceptibility to//hypogonadotropic hypogonadism 19 without anosmia//hypogonadotropic hypogonadism caused by mutation in dusp6	DUSP6	DUSP6	https://raresource.nih.gov/literature/disease/0015931	0015931	615269		C3808981		dual specificity phosphatase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 19 with or without anosmia"	None
Hypogonadotropic hypogonadism 20 with or without anosmia	fgf17 hypogonadotropic hypogonadism//hh20//hypogonadotropic hypogonadism 20 with anosmia//hypogonadotropic hypogonadism 20 with anosmia, susceptibility to//hypogonadotropic hypogonadism caused by mutation in fgf17	FGF17	FGF17	https://raresource.nih.gov/literature/disease/0015932	0015932	615270		C3808983		fibroblast growth factor 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 20 with or without anosmia"	None
Hypogonadotropic hypogonadism 21 with or without anosmia	flrt3 hypogonadotropic hypogonadism//hh21//hypogonadotropic hypogonadism 21 with anosmia//hypogonadotropic hypogonadism caused by mutation in flrt3	FLRT3	FLRT3	https://raresource.nih.gov/literature/disease/0015933	0015933	615271		C3808986		fibronectin leucine rich transmembrane protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 21 with or without anosmia"	None
Fanconi anemia complementation group Q	ercc4 fanconi anaemia//ercc4 fanconi anemia//fanconi anaemia caused by mutation in ercc4//fanconi anaemia complementation group type q//fanconi anemia caused by mutation in ercc4//fanconi anemia complementation group type q//fanconi anemia, complementation group type q//fancq	ERCC4	ERCC4	https://raresource.nih.gov/literature/disease/0015934	0015934	615272		C3808988		ERCC excision repair 4, endonuclease catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group Q"	1
Cardiofaciocutaneous syndrome 2	cardiofaciocutaneous syndrome caused by mutation in kras//cardiofaciocutaneous syndrome type 2//cfc2//kras cardiofaciocutaneous syndrome//kras-related cardiofaciocutaneous syndrome	KRAS	KRAS	https://raresource.nih.gov/literature/disease/0015935	0015935	615278		C3809005		KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiofaciocutaneous syndrome 2"	None
Cardiofaciocutaneous syndrome 3	cardiofaciocutaneous syndrome caused by mutation in map2k1//cardiofaciocutaneous syndrome type 3//cfc3//map2k1 cardiofaciocutaneous syndrome//map2k1-related cardiofaciocutaneous syndrome	MAP2K1	MAP2K1	https://raresource.nih.gov/literature/disease/0015936	0015936	615279		C3809006		mitogen-activated protein kinase kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiofaciocutaneous syndrome 3"	3
Cardiofaciocutaneous syndrome 4	cardiofaciocutaneous syndrome caused by mutation in map2k2//cardiofaciocutaneous syndrome type 4//cfc4//map2k2 cardiofaciocutaneous syndrome//map2k2-related cardiofaciocutaneous syndrome	MAP2K2	MAP2K2	https://raresource.nih.gov/literature/disease/0015937	0015937	615280		C3809007		mitogen-activated protein kinase kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiofaciocutaneous syndrome 4"	1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related	B4GAT1	B4GAT1	https://raresource.nih.gov/literature/disease/0015938	0015938	615287		C3809042		beta-1,4-glucuronyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	None
Myofibromatosis, infantile, 2	myofibromatosis caused by mutation in notch3//myofibromatosis, infantile, type 2//notch3 myofibromatosis	NOTCH3	NOTCH3	https://raresource.nih.gov/literature/disease/0015939	0015939	615293		C3809084		notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibromatosis, infantile, 2"	None
Primary ciliary dyskinesia 21	cild21//ciliary dyskinesia, primary, 21, without situs inversus//ciliary dyskinesia, primary, type 21//drc1 primary ciliary dyskinesia//primary ciliary dyskinesia 21 without situs inversus//primary ciliary dyskinesia caused by mutation in drc1//primary ciliary dyskinesia type 21	DRC1	DRC1	https://raresource.nih.gov/literature/disease/0015940	0015940	615294		C3809087		dynein regulatory complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 21"	None
Adams-Oliver syndrome 4	adams-oliver syndrome caused by mutation in eogt//adams-oliver syndrome type 4//aos4//eogt adams-oliver syndrome	EOGT	EOGT	https://raresource.nih.gov/literature/disease/0015941	0015941	615297		C3809092		EGF domain specific O-linked N-acetylglucosamine transferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome 4"	None
Symphalangism, proximal, 1B	gdf5 proximal symphalangism (disease)//proximal symphalangism (disease) caused by mutation in gdf5//sym1b//symphalangism, proximal, type 1b	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0015942	0015942	615298		C3809104		growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symphalangism, proximal, 1B"	1
Perrault syndrome 4	lars2 perrault syndrome//perrault syndrome caused by mutation in lars2//perrault syndrome type 4//prlts4	LARS2	LARS2	https://raresource.nih.gov/literature/disease/0015943	0015943	615300		C3809105		leucyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 4"	2
Dowling-Degos disease 2	ddd2//dowling-degos disease caused by mutation in pofut1//dowling-degos disease type 2//pofut1 dowling-degos disease	POFUT1	POFUT1	https://raresource.nih.gov/literature/disease/0015944	0015944	615327		C3809147		protein O-fucosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dowling-Degos disease 2"	1
Developmental and epileptic encephalopathy, 16	dee16//early infantile epileptic encephalopathy 16//eiee16//epileptic encephalopathy, early infantile, 16//epileptic encephalopathy, early infantile, type 16	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0015945	0015945	615338		C3809173		TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 16"	1
Nemaline myopathy 8	klhl40 nemaline myopathy//nem8//nemaline myopathy 8, autosomal recessive//nemaline myopathy caused by mutation in klhl40//nemaline myopathy type 8	KLHL40	KLHL40	https://raresource.nih.gov/literature/disease/0015946	0015946	615348		C3809209		kelch like family member 40	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 8"	6
Ehlers-Danlos syndrome, spondylodysplastic type, 2	b3galt6 ehlers-danlos syndrome progeroid type//b3galt6-related speds//b3galt6-related spondylodysplastic eds//b3galt6-related spondylodysplastic ehlers-danlos syndrome//beta-1,3-galactosyltransferase 6-related spondylodysplastic ehlers-danlos syndrome//beta3galt6-deficient eds//edsp2//edsspd2//ehlers-danlos syndrome progeroid type 2//ehlers-danlos syndrome progeroid type caused by mutation in b3galt6//ehlers-danlos syndrome, progeroid type, 2//speds-b3galt6	B3GALT6	B3GALT6	https://raresource.nih.gov/literature/disease/0015947	0015947	615349	536467	C3809210		beta-1,3-galactosyltransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, spondylodysplastic type, 2"	1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14//congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a14//muscle-eye-brain-gmppb related//walker-warburg syndrome or muscle-eye-brain disease, gmppb-related	GMPPB	GMPPB	https://raresource.nih.gov/literature/disease/0015948	0015948	615350		C3809216		GDP-mannose pyrophosphorylase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14"	None
Noonan syndrome 8	noonan syndrome caused by mutation in rit1//noonan syndrome type 8//ns8//rit1 noonan syndrome	RIT1	RIT1	https://raresource.nih.gov/literature/disease/0015949	0015949	615355		C3809233		Ras like without CAAX 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 8"	1
Leber congenital amaurosis 17	gdf6 leber congenital amaurosis//lca17//leber congenital amaurosis caused by mutation in gdf6//leber congenital amaurosis type 17	GDF6	GDF6	https://raresource.nih.gov/literature/disease/0015950	0015950	615360		C3715164		growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 17"	None
Autosomal dominant hypocalcemia 2	autosomal dominant hypocalcemia type 2//hypoc2//hypocalcemia, autosomal dominant type 2	GNA11	GNA11	https://raresource.nih.gov/literature/disease/0015951	0015951	615361		C3809243		G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypocalcemia 2"	8
Left ventricular noncompaction 8	familial isolated dilated cardiomyopathy caused by mutation in prdm16//left ventricular noncompaction type 8//lvnc8//prdm16 familial isolated dilated cardiomyopathy	PRDM16	PRDM16	https://raresource.nih.gov/literature/disease/0015952	0015952	615373		C3809288		PR/SET domain 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Left ventricular noncompaction 8"	None
Cone-rod dystrophy 18	cone-rod dystrophy caused by mutation in rab28//cone-rod dystrophy type 18//cord18//rab28 cone-rod dystrophy	RAB28	RAB28	https://raresource.nih.gov/literature/disease/0015953	0015953	615374		C3809299		RAB28, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 18"	None
Atrial fibrillation, familial, 13	atfb13//atrial fibrillation, familial, type 13//familial atrial fibrillation caused by mutation in scn1b//scn1b familial atrial fibrillation	SCN1B	SCN1B	https://raresource.nih.gov/literature/disease/0015954	0015954	615377		C3809311		sodium voltage-gated channel beta subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 13"	None
Atrial fibrillation, familial, 14	atfb14//atrial fibrillation, familial, type 14//familial atrial fibrillation caused by mutation in scn2b//scn2b familial atrial fibrillation	SCN2B	SCN2B	https://raresource.nih.gov/literature/disease/0015955	0015955	615378		C3809312		sodium voltage-gated channel beta subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 14"	None
Left ventricular noncompaction 10	left ventricular noncompaction caused by mutation in mybpc3//left ventricular noncompaction type 10//lvnc10//mybpc3 left ventricular noncompaction	MYBPC3	MYBPC3	https://raresource.nih.gov/literature/disease/0015956	0015956	615396		C3715165		myosin binding protein C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Left ventricular noncompaction 10"	None
Meckel syndrome, type 11	meckel syndrome 11//meckel syndrome caused by mutation in tmem231//mks11//tmem231 meckel syndrome	TMEM231	TMEM231	https://raresource.nih.gov/literature/disease/0015957	0015957	615397		C3809352		transmembrane protein 231	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 11"	None
Paroxysmal nocturnal hemoglobinuria 2	paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation//paroxysmal nocturnal hemoglobinuria caused by mutation in pigt//paroxysmal nocturnal hemoglobinuria type 2//pigt paroxysmal nocturnal hemoglobinuria//pnh2	PIGT	PIGT	https://raresource.nih.gov/literature/disease/0015958	0015958	615399		C3809369		phosphatidylinositol glycan anchor biosynthesis class T	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal nocturnal hemoglobinuria 2"	None
Dyschromatosis universalis hereditaria 3	abcb6 dyschromatosis universalis hereditaria//duh3//dyschromatosis universalis hereditaria caused by mutation in abcb6//dyschromatosis universalis hereditaria type 3	ABCB6	ABCB6	https://raresource.nih.gov/literature/disease/0015959	0015959	615402		C3809394		ATP binding cassette subfamily B member 6 (LAN blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyschromatosis universalis hereditaria 3"	None
Spermatogenic failure 12	azoospermia caused by mutation in nanos1//nanos1 azoospermia//spermatogenic failure type 12//spgf12	NANOS1	NANOS1	https://raresource.nih.gov/literature/disease/0015960	0015960	615413		C3809427		nanos C2HC-type zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 12"	None
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	mitochondrial dna depletion syndrome 12//mitochondrial dna depletion syndrome 12b (cardiomyopathic type) ar//mitochondrial dna depletion syndrome 12b (cardiomyopathic type), ar//mtdps12b	SLC25A4	SLC25A4	https://raresource.nih.gov/literature/disease/0015961	0015961	615418		C3809443		solute carrier family 25 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	hnrnpa2b1 inclusion body myopathy with paget disease of bone and frontotemporal dementia//ibmpfd2//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia type 2//inclusion body myopathy with paget disease of bone and frontotemporal dementia caused by mutation in hnrnpa2b1//multisystem proteinopathy 2	HNRNPA2B1	HNRNPA2B1	https://raresource.nih.gov/literature/disease/0015962	0015962	615422		C3809468		heterogeneous nuclear ribonucleoprotein A2/B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	None
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	hnrnpa1 inclusion body myopathy with paget disease of bone and frontotemporal dementia//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia type 3//inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3//inclusion body myopathy with paget disease of bone and frontotemporal dementia caused by mutation in hnrnpa1//multisystem proteinopathy 3	HNRNPA1	HNRNPA1	https://raresource.nih.gov/literature/disease/0015963	0015963	615424		C3809469		heterogeneous nuclear ribonucleoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3"	None
Amyotrophic lateral sclerosis type 20	als20//amyotrophic lateral sclerosis 20//amyotrophic lateral sclerosis caused by mutation in hnrnpa1//hnrnpa1 amyotrophic lateral sclerosis	HNRNPA1	HNRNPA1	https://raresource.nih.gov/literature/disease/0015964	0015964	615426		C3715156		heterogeneous nuclear ribonucleoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 20"	1
Retinitis pigmentosa with or without situs inversus	arl2bp retinitis pigmentosa//retinitis pigmentosa 82//retinitis pigmentosa 82 with or without situs inversus//retinitis pigmentosa caused by mutation in arl2bp	ARL2BP	ARL2BP	https://raresource.nih.gov/literature/disease/0015965	0015965	615434		C4747737		ARF like GTPase 2 binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa with or without situs inversus"	None
Aortic aneurysm, familial thoracic 8	aat8//aortic aneurysm, familial thoracic type 8//familial thoracic aortic aneurysm and aortic dissection caused by mutation in prkg1//prkg1 familial thoracic aortic aneurysm and aortic dissection	PRKG1	PRKG1	https://raresource.nih.gov/literature/disease/0015966	0015966	615436		C3809513		protein kinase cGMP-dependent 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 8"	1
Catecholaminergic polymorphic ventricular tachycardia 5	cardar//cardiac arrhythmia syndrome, with or without skeletal muscle weakness//catecholaminergic polymorphic ventricular tachycardia caused by mutation in trdn//catecholaminergic polymorphic ventricular tachycardia type 5//cvpt5//trdn catecholaminergic polymorphic ventricular tachycardia//ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	TRDN	TRDN	https://raresource.nih.gov/literature/disease/0015967	0015967	615441		C3809536		triadin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia 5"	None
Primary ciliary dyskinesia 22	cild22//ciliary dyskinesia, primary, 22, with or without situs inversus//ciliary dyskinesia, primary, type 22//primary ciliary dyskinesia 22 with or without situs inversus//primary ciliary dyskinesia caused by mutation in zmynd10//primary ciliary dyskinesia type 22//zmynd10 primary ciliary dyskinesia	ZMYND10	ZMYND10	https://raresource.nih.gov/literature/disease/0015968	0015968	615444		C3809543		zinc finger MYND-type containing 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 22"	None
Primary ciliary dyskinesia 23	armc4 primary ciliary dyskinesia//cild23//ciliary dyskinesia, primary, 23, with or without situs inversus//ciliary dyskinesia, primary, type 23//primary ciliary dyskinesia 23 with or without situs inversus//primary ciliary dyskinesia caused by mutation in armc4//primary ciliary dyskinesia type 23	ODAD2	ODAD2	https://raresource.nih.gov/literature/disease/0015969	0015969	615451		C3809548		outer dynein arm docking complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 23"	None
Mitochondrial complex III deficiency nuclear type 6	cyc1 mitochondrial complex iii deficiency//mitochondrial complex iii deficiency caused by mutation in cyc1	CYC1	CYC1	https://raresource.nih.gov/literature/disease/0015970	0015970	615453		C3809553		cytochrome c1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 6"	None
Primary ciliary dyskinesia 24	cild24//ciliary dyskinesia, primary, 24, without situs inversus//ciliary dyskinesia, primary, type 24//primary ciliary dyskinesia 24 without situs inversus//primary ciliary dyskinesia caused by mutation in rsph1//primary ciliary dyskinesia type 24//rsph1 primary ciliary dyskinesia	RSPH1	RSPH1	https://raresource.nih.gov/literature/disease/0015971	0015971	615481		C3809634		radial spoke head component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 24"	1
Primary ciliary dyskinesia 25	cild25//ciliary dyskinesia, primary, 25, with or without situs inversus//ciliary dyskinesia, primary, type 25//dnaaf4 primary ciliary dyskinesia//primary ciliary dyskinesia 25 with or without situs inversus//primary ciliary dyskinesia caused by mutation in dnaaf4//primary ciliary dyskinesia type 25	DNAAF4	DNAAF4	https://raresource.nih.gov/literature/disease/0015972	0015972	615482		C3809641		dynein axonemal assembly factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 25"	None
Basal ganglia calcification, idiopathic, 5	basal ganglia calcification, idiopathic, type 5	PDGFB	PDGFB	https://raresource.nih.gov/literature/disease/0015973	0015973	615483		C3809645		platelet derived growth factor subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 5"	None
Primary ciliary dyskinesia 26	cfap298 primary ciliary dyskinesia//cild26//ciliary dyskinesia, primary, 26, with or without situs inversus//ciliary dyskinesia, primary, 26, with situs inversus//ciliary dyskinesia, primary, 26, without situs inversus//ciliary dyskinesia, primary, type 26//primary ciliary dyskinesia 26 with or without situs inversus//primary ciliary dyskinesia caused by mutation in cfap298//primary ciliary dyskinesia type 26	CFAP298	CFAP298	https://raresource.nih.gov/literature/disease/0015974	0015974	615500		C3809684		cilia and flagella associated protein 298	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 26"	None
Short-rib thoracic dysplasia 8 with or without polydactyly	short rib-polydactyly syndrome type vi//short-rib thoracic dysplasia 8 with polydactyly//srps6//srtd8	DYNC2I1	DYNC2I1	https://raresource.nih.gov/literature/disease/0015975	0015975	615503		C3809691		dynein 2 intermediate chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 8 with or without polydactyly"	None
Primary ciliary dyskinesia 27	ccdc65 primary ciliary dyskinesia//cild27//ciliary dyskinesia, primary, 27, without situs inversus//ciliary dyskinesia, primary, type 27//primary ciliary dyskinesia 27 without situs inversus//primary ciliary dyskinesia caused by mutation in ccdc65//primary ciliary dyskinesia type 27	CCDC65	CCDC65	https://raresource.nih.gov/literature/disease/0015976	0015976	615504		C3809701		coiled-coil domain containing 65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 27"	None
Primary ciliary dyskinesia 28	cild28//ciliary dyskinesia, primary, 28, with or without situs inversus//ciliary dyskinesia, primary, type 28//primary ciliary dyskinesia 28 with or without situs inversus//primary ciliary dyskinesia caused by mutation in spag1//primary ciliary dyskinesia type 28//spag1 primary ciliary dyskinesia	SPAG1	SPAG1	https://raresource.nih.gov/literature/disease/0015977	0015977	615505		C3809706		sperm associated antigen 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 28"	None
Telangiectasia, hereditary hemorrhagic, type 5	gdf2 hereditary hemorrhagic telangiectasia//gdf2 related hht-like syndrome//hereditary hemorrhagic telangiectasia caused by mutation in gdf2//hht5	GDF2	GDF2	https://raresource.nih.gov/literature/disease/0015978	0015978	615506		C3809710		growth differentiation factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia, hereditary hemorrhagic, type 5"	None
Immunodeficiency 14	activated phosphoinositide 3-kinase delta syndrome//activated phosphoinositide 3-kinase delta syndrome (apds)//activated pi3k-delta syndrome 1//apds - activated pi3k-delta syndrome//autosomal dominant immunodeficiency due to activated p110-delta syndrome//imd14a//immunodeficiency 14a with lymphoproliferation, autosomal dominant//immunodeficiency 14a, autosomal dominant//immunodeficiency type 14//p110-delta-activating mutation causing senescent t cells, lymphadenopathy and immunodeficiency//p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency//pasli - p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency	PIK3CD	PIK3CD	https://raresource.nih.gov/literature/disease/0015979	0015979	615513		C3714976		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 14"	45
Amyotrophic lateral sclerosis type 19	als19//amyotrophic lateral sclerosis 19//amyotrophic lateral sclerosis caused by mutation in erbb4//erbb4 amyotrophic lateral sclerosis	ERBB4	ERBB4	https://raresource.nih.gov/literature/disease/0015980	0015980	615515		C3715155		erb-b2 receptor tyrosine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 19"	2
Candidiasis, familial, 8	candf8//candidiasis, familial, type 8//chronic mucocutaneous candidiasis (disease) caused by mutation in traf3ip2//traf3ip2 chronic mucocutaneous candidiasis (disease)	TRAF3IP2	TRAF3IP2	https://raresource.nih.gov/literature/disease/0015981	0015981	615527		C3714992		TRAF3 interacting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Candidiasis, familial, 8"	None
Ehlers-Danlos syndrome, musculocontractural type 2	dse ehlers-danlos syndrome, musculocontractural type//edsmc2//ehlers-danlos syndrome, musculocontractural type caused by mutation in dse	DSE	DSE	https://raresource.nih.gov/literature/disease/0015982	0015982	615539		C3809845		dermatan sulfate epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, musculocontractural type 2"	1
Periventricular nodular heterotopia 6	ermard periventricular nodular heterotopia//periventricular nodular heterotopia caused by mutation in ermard//periventricular nodular heterotopia type 6//pvnh6	ERMARD	ERMARD	https://raresource.nih.gov/literature/disease/0015983	0015983	615544		C3809872		ER membrane associated RNA degradation	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia 6"	None
Van Maldergem syndrome 2	fat4 van maldergem syndrome//van maldergem syndrome caused by mutation in fat4//van maldergem syndrome type 2//vmlds2	FAT4	FAT4	https://raresource.nih.gov/literature/disease/0015984	0015984	615546		C3809875		FAT atypical cadherin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van Maldergem syndrome 2"	1
Diamond-Blackfan anemia 12	dba12//diamond-blackfan anaemia caused by mutation in rpl15//diamond-blackfan anaemia type 12//diamond-blackfan anemia caused by mutation in rpl15//diamond-blackfan anemia type 12//rpl15 diamond-blackfan anaemia//rpl15 diamond-blackfan anemia//rpl15-related diamond-blackfan anemia	RPL15	RPL15	https://raresource.nih.gov/literature/disease/0015985	0015985	615550		C3809888		ribosomal protein L15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 12"	None
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD		PRKCD	PRKCD	https://raresource.nih.gov/literature/disease/0015987	0015987	615559	664711	C3809928		protein kinase C delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD"	None
Retinitis pigmentosa 67	nek2 retinitis pigmentosa//retinitis pigmentosa caused by mutation in nek2//retinitis pigmentosa type 67//rp67	NEK2	NEK2	https://raresource.nih.gov/literature/disease/0015988	0015988	615565		C3809954		NIMA related kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 67"	None
Nephrotic syndrome, type 9	coq8b nephrotic syndrome//nephrotic syndrome caused by mutation in coq8b//nphs9	COQ8B	COQ8B	https://raresource.nih.gov/literature/disease/0015989	0015989	615573		C3809965		coenzyme Q8B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 9"	1
Immunodeficiency, common variable, 10	common variable immunodeficiency caused by mutation in nfkb2//deficit in anterior pituitary function and variable immunodeficiency//immunodeficiency, common variable, type 10//immunodeficiency, common variable, with central adrenal insufficiency//nfkb2 common variable immunodeficiency	NFKB2	NFKB2	https://raresource.nih.gov/literature/disease/0015990	0015990	615577		C3809991		nuclear factor kappa B subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 10"	None
Fanconi renotubular syndrome 3	ehhadh fanconi syndrome//fanconi renotubular syndrome type 3//fanconi syndrome caused by mutation in ehhadh//frts3	EHHADH	EHHADH	https://raresource.nih.gov/literature/disease/0015991	0015991	615605		C3810100		enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi renotubular syndrome 3"	1
Short-rib thoracic dysplasia 10 with or without polydactyly	srtd10	IFT172	IFT172	https://raresource.nih.gov/literature/disease/0015993	0015993	615630		C3810175		intraflagellar transport 172	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 10 with or without polydactyly"	None
Congenital dyserythropoietic anemia type type 1B	anemia, congenital dyserythropoietic, type ib//cda, type ib//cdan1b//dyserythropoietic anemia, congenital, type ib	CDIN1	CDIN1	https://raresource.nih.gov/literature/disease/0015994	0015994	615631		C3810185		CDAN1 interacting nuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia type type 1B"	None
Neuropathy, hereditary sensory, type 1F	atl3 hereditary sensory and autonomic neuropathy type 1//hereditary sensory and autonomic neuropathy type 1 caused by mutation in atl3//hereditary sensory neuropathy type if//hsn if//hsn1f	ATL3	ATL3	https://raresource.nih.gov/literature/disease/0015995	0015995	615632		C3810194		atlastin GTPase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary sensory, type 1F"	3
Short-rib thoracic dysplasia 11 with or without polydactyly	short-rib thoracic dysplasia 11 without polydactyly//srtd11	DYNC2I2	DYNC2I2	https://raresource.nih.gov/literature/disease/0015996	0015996	615633		C3810200		dynein 2 intermediate chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 11 with or without polydactyly"	None
Joubert syndrome 21	cspp1 joubert syndrome//jbts21//joubert syndrome caused by mutation in cspp1//joubert syndrome type 21	CSPP1	CSPP1	https://raresource.nih.gov/literature/disease/0015997	0015997	615636		C3810212		centrosome and spindle pole associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 21"	1
Warburg micro syndrome 4	micro syndrome 4//tbc1d20 warburg micro syndrome//warbm4//warburg micro syndrome caused by mutation in tbc1d20//warburg micro syndrome type 4	TBC1D20	TBC1D20	https://raresource.nih.gov/literature/disease/0015998	0015998	615663		C3810265		TBC1 domain family member 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warburg micro syndrome 4"	2
Joubert syndrome 22	jbts22//joubert syndrome caused by mutation in pde6d//joubert syndrome type 22//pde6d joubert syndrome	PDE6D	PDE6D	https://raresource.nih.gov/literature/disease/0015999	0015999	615665		C3810278		phosphodiesterase 6D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 22"	1
LZTR1-related schwannomatosis	schwannomatosis 2//schwannomatosis type 2//schwannomatosis-2, susceptibility to	LZTR1	LZTR1	https://raresource.nih.gov/literature/disease/0016000	0016000	615670		C3810283		leucine zipper like post translational regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LZTR1-related schwannomatosis"	4
Dowling-Degos disease 4	dowling-degos disease caused by mutation in poglut1//dowling-degos disease type 4//poglut1 dowling-degos disease	POGLUT1	POGLUT1	https://raresource.nih.gov/literature/disease/0016002	0016002	615696		C3810313		protein O-glucosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dowling-Degos disease 4"	1
Auriculocondylar syndrome 3	arcnd3//auriculocondylar syndrome type 3	EDN1	EDN1	https://raresource.nih.gov/literature/disease/0016003	0016003	615706		C3810332		endothelin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome 3"	1
Retinitis pigmentosa 68	retinitis pigmentosa caused by mutation in slc7a14//retinitis pigmentosa type 68//rp68//slc7a14 retinitis pigmentosa	SLC7A14	SLC7A14	https://raresource.nih.gov/literature/disease/0016004	0016004	615725		C3810380		solute carrier family 7 member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 68"	None
Pachyonychia congenita 3	krt6a pachyonychia congenita//pachyonychia congenita caused by mutation in krt6a//pachyonychia congenita type 3//pc-k6a//pc3	KRT6A	KRT6A	https://raresource.nih.gov/literature/disease/0016005	0016005	615726		C3714948		keratin 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachyonychia congenita 3"	251
Pachyonychia congenita 4	krt6b pachyonychia congenita//pachyonychia congenita caused by mutation in krt6b//pachyonychia congenita type 4//pc4	KRT6B	KRT6B	https://raresource.nih.gov/literature/disease/0016006	0016006	615728		C3714949		keratin 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachyonychia congenita 4"	None
Nemaline myopathy 9	klhl41 nemaline myopathy//nem9//nemaline myopathy caused by mutation in klhl41//nemaline myopathy type 9	KLHL41	KLHL41	https://raresource.nih.gov/literature/disease/0016007	0016007	615731		C3810384		kelch like family member 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 9"	None
Developmental and epileptic encephalopathy, 19	dee19//early infantile epileptic encephalopathy 19//early infantile epileptic encephalopathy caused by mutation in gabra1//eiee19//epileptic encephalopathy, early infantile, 19//epileptic encephalopathy, early infantile, type 19//gabra1 early infantile epileptic encephalopathy	GABRA1	GABRA1	https://raresource.nih.gov/literature/disease/0016008	0016008	615744		C3810400		gamma-aminobutyric acid type A receptor subunit alpha1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 19"	1
Polymicrogyria, bilateral perisylvian, autosomal recessive	cdcbm14b//cortical dysplasia, complex, with other brain malformations 14b (bilateral perisylvian)//polymicrogyria, bilateral perisylvian	ADGRG1	ADGRG1	https://raresource.nih.gov/literature/disease/0016009	0016009	615752		C3810405		adhesion G protein-coupled receptor G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polymicrogyria, bilateral perisylvian, autosomal recessive"	None
Atrial fibrillation, familial, 15	atfb15//atrial fibrillation 15//atrial fibrillation, familial, type 15//familial atrial fibrillation caused by mutation in nup155//nup155 familial atrial fibrillation	NUP155	NUP155	https://raresource.nih.gov/literature/disease/0016010	0016010	615770		C4014269		nucleoporin 155	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 15"	None
Retinitis pigmentosa 69	kiz retinitis pigmentosa//retinitis pigmentosa caused by mutation in kiz//retinitis pigmentosa type 69//rp69	KIZ	KIZ	https://raresource.nih.gov/literature/disease/0016011	0016011	615780		C4014312		kizuna centrosomal protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 69"	None
White sponge nevus 2	white sponge nevus type 2//wsn2	KRT13	KRT13	https://raresource.nih.gov/literature/disease/0016012	0016012	615785		C4014321		keratin 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=White sponge nevus 2"	None
Seckel syndrome 8	dna2 seckel syndrome//sckl8//seckel syndrome caused by mutation in dna2//seckel syndrome type 8	DNA2	DNA2	https://raresource.nih.gov/literature/disease/0016013	0016013	615807		C3891452		DNA replication helicase/nuclease 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 8"	None
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis//dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis//dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis//ekc syndrome//erythrokeratodermia-cardiomyopathy syndrome	DSP	DSP	https://raresource.nih.gov/literature/disease/0016014	0016014	615821	476096	C4014393		desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"	5
Mitochondrial complex III deficiency nuclear type 7	mitochondrial complex iii deficiency caused by mutation in uqcc2//uqcc2 mitochondrial complex iii deficiency	UQCC2	UQCC2	https://raresource.nih.gov/literature/disease/0016015	0016015	615824		C4014408		ubiquinol-cytochrome c reductase complex assembly factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 7"	None
Pigmented nodular adrenocortical disease, primary, 4	chromosome 19p13 duplication syndrome//cushing syndrome, acth-independent adrenal, somatic//cushing syndrome, adrenal, due to ppnad4//pigmented nodular adrenocortical disease, primary, type 4//ppnad4//primary pigmented nodular adrenocortical disease caused by mutation in prkaca//prkaca primary pigmented nodular adrenocortical disease	PRKACA	PRKACA	https://raresource.nih.gov/literature/disease/0016016	0016016	615830		C4014425		protein kinase cAMP-activated catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmented nodular adrenocortical disease, primary, 4"	None
Developmental and epileptic encephalopathy, 21	dee21//early infantile epileptic encephalopathy 21//early infantile epileptic encephalopathy caused by mutation in necap1//eiee21//epileptic encephalopathy, early infantile, 21//epileptic encephalopathy, early infantile, type 21//necap1 early infantile epileptic encephalopathy	NECAP1	NECAP1	https://raresource.nih.gov/literature/disease/0016017	0016017	615833		C4014430		NECAP endocytosis associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 21"	1
Mitochondrial complex III deficiency nuclear type 8	lyrm7 mitochondrial complex iii deficiency//mitochondrial complex iii deficiency caused by mutation in lyrm7	LYRM7	LYRM7	https://raresource.nih.gov/literature/disease/0016018	0016018	615838		C4014440		LYR motif containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 8"	None
Spermatogenic failure 13	azoospermia caused by mutation in taf4b//spermatogenic failure type 13//spgf13//taf4b azoospermia	TAF4B	TAF4B	https://raresource.nih.gov/literature/disease/0016019	0016019	615841		C4014449		TATA-box binding protein associated factor 4b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 13"	None
Spermatogenic failure 14	azoospermia caused by mutation in zmynd15//spermatogenic failure type 14//spgf14//zmynd15 azoospermia	ZMYND15	ZMYND15	https://raresource.nih.gov/literature/disease/0016020	0016020	615842		C4014454		zinc finger MYND-type containing 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 14"	None
Aicardi-Goutieres syndrome 7	ags7//aicardi-goutieres syndrome caused by mutation in ifih1//aicardi-goutieres syndrome type 7//ifih1 aicardi-goutieres syndrome	IFIH1	IFIH1	https://raresource.nih.gov/literature/disease/0016021	0016021	615846		C3888244		interferon induced with helicase C domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 7"	2
Cone-rod dystrophy 19	cone-rod dystrophy caused by mutation in ttll5//cone-rod dystrophy type 19//cord19//ttll5 cone-rod dystrophy	TTLL5	TTLL5	https://raresource.nih.gov/literature/disease/0016022	0016022	615860		C4014501		tubulin tyrosine ligase like 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 19"	None
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	autosomal dominant intellectual disability 27//autosomal dominant mental retardation 27//coffin-siris syndrome 9//css9//intellectual disability, autosomal dominant 27//intellectual disability, autosomal dominant type 27//mental retardation, autosomal dominant type 27//mrd27	SOX11	SOX11	https://raresource.nih.gov/literature/disease/0016023	0016023	615866		C4014528		SRY-box transcription factor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"	2
Developmental and epileptic encephalopathy, 24	dee24//early infantile epileptic encephalopathy caused by mutation in hcn1//eiee24//epileptic encephalopathy, early infantile, 24//epileptic encephalopathy, early infantile, type 24//hcn1 early infantile epileptic encephalopathy	HCN1	HCN1	https://raresource.nih.gov/literature/disease/0016024	0016024	615871		C4014531		hyperpolarization activated cyclic nucleotide gated potassium channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 24"	None
Primary ciliary dyskinesia 29	ccno primary ciliary dyskinesia//cild29//ciliary dyskinesia, primary, 29, without situs inversus//ciliary dyskinesia, primary, type 29//primary ciliary dyskinesia 29 without situs inversus//primary ciliary dyskinesia caused by mutation in ccno//primary ciliary dyskinesia type 29	CCNO	CCNO	https://raresource.nih.gov/literature/disease/0016025	0016025	615872		C4014534		cyclin O	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 29"	1
Myopathy, tubular aggregate, 2	myopathy, tubular aggregate, type 2//orai1 tubular aggregate myopathy//tam2//tubular aggregate myopathy caused by mutation in orai1	ORAI1	ORAI1	https://raresource.nih.gov/literature/disease/0016026	0016026	615883		C4014557		ORAI calcium release-activated calcium modulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, tubular aggregate, 2"	None
Hypotrichosis 12	hypotrichosis caused by mutation in rpl21//hypotrichosis type 12//hypt12//rpl21 hypotrichosis	RPL21	RPL21	https://raresource.nih.gov/literature/disease/0016027	0016027	615885		C4014563		ribosomal protein L21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 12"	None
Amelogenesis imperfecta hypomaturation type 2A5	ai2a5//amelogenesis imperfecta caused by mutation in slc24a4//amelogenesis imperfecta hypomaturation type iia5//amelogenesis imperfecta type iia5//amelogenesis imperfecta, hypomaturation type iia5//amelogenesis imperfecta, type iia5//slc24a4 amelogenesis imperfecta	SLC24A4	SLC24A4	https://raresource.nih.gov/literature/disease/0016028	0016028	615887		C4014578		solute carrier family 24 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta hypomaturation type 2A5"	None
Hypotrichosis 13	hypotrichosis caused by mutation in krt71//hypotrichosis type 13//hypotrichosis with woolly hair//hypotrichosis with wooly hair//hypt13//krt71 hypotrichosis	KRT71	KRT71	https://raresource.nih.gov/literature/disease/0016029	0016029	615896		C4014616		keratin 71	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 13"	None
Diamond-Blackfan anemia 13	dba13//diamond-blackfan anaemia caused by mutation in rps29//diamond-blackfan anaemia type 13//diamond-blackfan anemia caused by mutation in rps29//diamond-blackfan anemia type 13//rps29 diamond-blackfan anaemia//rps29 diamond-blackfan anemia	RPS29	RPS29	https://raresource.nih.gov/literature/disease/0016030	0016030	615909		C4014641		ribosomal protein S29	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 13"	None
Dilated cardiomyopathy 1NN	cardiomyopathy, dilated, type 1nn//cmd1nn//dilated cardiomyopathy type 1nn//familial isolated dilated cardiomyopathy caused by mutation in raf1//raf1 familial isolated dilated cardiomyopathy	RAF1	RAF1	https://raresource.nih.gov/literature/disease/0016031	0016031	615916		C4014656		Raf-1 proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1NN"	None
Retinitis pigmentosa 70	prpf4 retinitis pigmentosa//retinitis pigmentosa caused by mutation in prpf4//retinitis pigmentosa type 70//rp70	PRPF4	PRPF4	https://raresource.nih.gov/literature/disease/0016032	0016032	615922		C4014681		pre-mRNA splicing tri-snRNP complex factor PRPF4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 70"	None
Pancreatic agenesis 2	pagen2//pancreatic agenesis caused by mutation in ptf1a//pancreatic agenesis type 2//pancreatic hypoplasia, congenital 2//ptf1a pancreatic agenesis	PTF1A	PTF1A	https://raresource.nih.gov/literature/disease/0016033	0016033	615935		C4014737		pancreas associated transcription factor 1a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic agenesis 2"	None
ACTH-independent macronodular adrenal hyperplasia 2	acth-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation//acth-independent macronodular adrenal hyperplasia type 2//aimah2//armc5 cushing syndrome due to macronodular adrenal hyperplasia//cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in armc5//primary macronodular adrenal hyperplasia	ARMC5	ARMC5	https://raresource.nih.gov/literature/disease/0016034	0016034	615954		C4014803		armadillo repeat containing 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACTH-independent macronodular adrenal hyperplasia 2"	17
Myopathy, centronuclear, 5	autosomal recessive centronuclear myopathy caused by mutation in speg//centronuclear myopathy 5//cnm5//myopathy, centronuclear, type 5//speg autosomal recessive centronuclear myopathy	SPEG	SPEG	https://raresource.nih.gov/literature/disease/0016035	0016035	615959		C4014814		striated muscle enriched protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, centronuclear, 5"	1
Cone-rod dystrophy 20	cone-rod dystrophy caused by mutation in poc1b//cone-rod dystrophy type 20//cord20//poc1b cone-rod dystrophy	POC1B	POC1B	https://raresource.nih.gov/literature/disease/0016036	0016036	615973		C4014856		POC1 centriolar protein B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 20"	None
Bardet-Biedl syndrome 13	bardet-biedl syndrome caused by mutation in mks1//bardet-biedl syndrome type 13//bbs13//mks1 bardet-biedl syndrome	MKS1	MKS1	https://raresource.nih.gov/literature/disease/0016037	0016037	615990		C2673873	C567140	MKS transition zone complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 13"	None
Bardet-Biedl syndrome 14	bardet-biedl syndrome 14, modifier of//bardet-biedl syndrome type 14//bbs14	CEP290;TMEM67	CEP290;TMEM67	https://raresource.nih.gov/literature/disease/0016038	0016038	615991		C2673874	C567141	centrosomal protein 290; transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 14"	None
Bardet-Biedl syndrome 15	bardet-biedl syndrome caused by mutation in wdpcp//bardet-biedl syndrome type 15//bbs15//wdpcp bardet-biedl syndrome	WDPCP	WDPCP	https://raresource.nih.gov/literature/disease/0016039	0016039	615992		C3150127		WD repeat containing planar cell polarity effector	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 15"	None
Bardet-Biedl syndrome 16	bardet-biedl syndrome caused by mutation in sdccag8//bardet-biedl syndrome type 16//bbs16//sdccag8 bardet-biedl syndrome	SDCCAG8	SDCCAG8	https://raresource.nih.gov/literature/disease/0016040	0016040	615993		C3889474		SHH signaling and ciliogenesis regulator SDCCAG8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 16"	None
Bardet-Biedl syndrome 17	bardet-biedl syndrome caused by mutation in lztfl1//bardet-biedl syndrome type 17//bbs17//lztfl1 bardet-biedl syndrome	LZTFL1	LZTFL1	https://raresource.nih.gov/literature/disease/0016041	0016041	615994		C3714980		leucine zipper transcription factor like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 17"	1
Bardet-Biedl syndrome 18	bardet-biedl syndrome caused by mutation in bbip1//bardet-biedl syndrome type 18//bbip1 bardet-biedl syndrome//bbs18	BBIP1	BBIP1	https://raresource.nih.gov/literature/disease/0016042	0016042	615995		C3806174		BBSome interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 18"	None
Bardet-Biedl syndrome 19	bardet-biedl syndrome caused by mutation in ift27//bardet-biedl syndrome type 19//bbs19//ift27 bardet-biedl syndrome	IFT27	IFT27	https://raresource.nih.gov/literature/disease/0016043	0016043	615996		C3889475		intraflagellar transport 27	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 19"	None
Breasts and/or nipples, aplasia or hypoplasia of, 2	bnah2//breasts and/or nipples, aplasia or hypoplasia of, type 2//isolated congenital breast hypoplasia/aplasia caused by mutation in ptprf//ptprf isolated congenital breast hypoplasia/aplasia	PTPRF	PTPRF	https://raresource.nih.gov/literature/disease/0016044	0016044	616001		C4014918		protein tyrosine phosphatase receptor type F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Breasts and/or nipples, aplasia or hypoplasia of, 2"	None
Focal segmental glomerulosclerosis 7	focal segmental glomerulosclerosis caused by mutation in pax2//focal segmental glomerulosclerosis type 7//fsgs7//pax2 focal segmental glomerulosclerosis	PAX2	PAX2	https://raresource.nih.gov/literature/disease/0016045	0016045	616002		C4014925		paired box 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 7"	1
Immunodeficiency 36 with lymphoproliferation	activated pi3k-delta syndrome 2//activated pi3k-delta syndrome-2//apds2//imd36//immunodeficiency 36//immunodeficiency type 36	PIK3R1	PIK3R1	https://raresource.nih.gov/literature/disease/0016046	0016046	616005		C4014934		phosphoinositide-3-kinase regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 36 with lymphoproliferation"	27
Hennekam lymphangiectasia-lymphedema syndrome 2	fat4 hennekam syndrome//hennekam lymphangiectasia-lymphedema syndrome type 2//hennekam syndrome caused by mutation in fat4//hklls2	FAT4	FAT4	https://raresource.nih.gov/literature/disease/0016047	0016047	616006		C4014939		FAT atypical cadherin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hennekam lymphangiectasia-lymphedema syndrome 2"	None
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	fanconi syndrome caused by mutation in hnf4a//frts4//frts4 with mody//hnf4a fanconi syndrome	HNF4A	HNF4A	https://raresource.nih.gov/literature/disease/0016048	0016048			C4014962		hepatocyte nuclear factor 4 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young"	1
Adams-Oliver syndrome 5	adams-oliver syndrome caused by mutation in notch1//adams-oliver syndrome type 5//aos5	NOTCH1	NOTCH1	https://raresource.nih.gov/literature/disease/0016049	0016049	616028		C4014970		notch receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome 5"	1
Hypogonadotropic hypogonadism 22 with or without anosmia	fezf1 hypogonadotropic hypogonadism//hh22//hypogonadotropic hypogonadism caused by mutation in fezf1	FEZF1	FEZF1	https://raresource.nih.gov/literature/disease/0016050	0016050	616030		C4014988		FEZ family zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 22 with or without anosmia"	None
Focal segmental glomerulosclerosis 8	anln focal segmental glomerulosclerosis//focal segmental glomerulosclerosis caused by mutation in anln//focal segmental glomerulosclerosis type 8//fsgs8	ANLN	ANLN	https://raresource.nih.gov/literature/disease/0016051	0016051	616032		C4014993		anillin, actin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 8"	None
Primary ciliary dyskinesia 30	ccdc151 primary ciliary dyskinesia//cild30//ciliary dyskinesia, primary, 30, with or without situs inversus//ciliary dyskinesia, primary, type 30//primary ciliary dyskinesia 30 without situs inversus//primary ciliary dyskinesia caused by mutation in ccdc151//primary ciliary dyskinesia type 30	ODAD3	ODAD3	https://raresource.nih.gov/literature/disease/0016052	0016052	616037		C4015016		outer dynein arm docking complex subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 30"	None
Congenital myasthenic syndrome 7	cms7//congenital myasthenic syndrome 7 presynaptic//congenital myasthenic syndrome caused by mutation in syt2//congenital myasthenic syndrome type 7//myasthenic syndrome, congenital, 7, presynaptic//myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant//syt2 congenital myasthenic syndrome	SYT2	SYT2	https://raresource.nih.gov/literature/disease/0016053	0016053	616040		C4015038		synaptotagmin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 7"	None
Microcephaly 13, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cenpe//cenpe autosomal recessive primary microcephaly	CENPE	CENPE	https://raresource.nih.gov/literature/disease/0016054	0016054	616051		C4015080		centromere protein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 13, primary, autosomal recessive"	None
Mirror movements 3	dnal4 familial congenital mirror movements//familial congenital mirror movements caused by mutation in dnal4//mirror movements type 3//mrmv3	DNAL4	DNAL4	https://raresource.nih.gov/literature/disease/0016055	0016055	616059		C4015124		dynein axonemal light chain 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mirror movements 3"	None
Porokeratosis 8, disseminated superficial actinic type	porok8	SLC17A9	SLC17A9	https://raresource.nih.gov/literature/disease/0016056	0016056	616063		C4015128		solute carrier family 17 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 8, disseminated superficial actinic type"	None
Microcephaly 12, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cdk6//cdk6 autosomal recessive primary microcephaly	CDK6	CDK6	https://raresource.nih.gov/literature/disease/0016057	0016057	616080		C4015156		cyclin dependent kinase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 12, primary, autosomal recessive"	None
Pontocerebellar hypoplasia, type 1C	exosc8 pontocerebellar hypoplasia type 1//hypomyelination with spinal muscular atrophy and cerebellar hypoplasia//pontocerebellar hypoplasia type 1 caused by mutation in exosc8	EXOSC8	EXOSC8	https://raresource.nih.gov/literature/disease/0016058	0016058	616081		C4015160		exosome component 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 1C"	4
Mitochondrial complex III deficiency nuclear type 9	mitochondrial complex iii deficiency caused by mutation in uqcc3//uqcc3 mitochondrial complex iii deficiency	UQCC3	UQCC3	https://raresource.nih.gov/literature/disease/0016060	0016060	616111		C4015253		ubiquinol-cytochrome c reductase complex assembly factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency nuclear type 9"	None
Familial cold autoinflammatory syndrome 4	familial cold autoinflammatory syndrome caused by mutation in nlrc4//familial cold autoinflammatory syndrome type 4//fcas4//fcas4 - familial cold autoinflammatory syndrome 4//nlr family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome//nlrc4 familial cold autoinflammatory syndrome//nlrc4-related familial cold autoinflammatory syndrome//nlrc4-related familial cold urticaria	NLRC4	NLRC4	https://raresource.nih.gov/literature/disease/0016061	0016061	616115	576349	C4015276		NLR family CARD domain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cold autoinflammatory syndrome 4"	2
Perrault syndrome 5	perrault syndrome caused by mutation in twnk//perrault syndrome type 5//prlts5//twnk perrault syndrome	TWNK	TWNK	https://raresource.nih.gov/literature/disease/0016062	0016062	616138		C4015307		twinkle mtDNA helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 5"	1
Developmental and epileptic encephalopathy, 27	dee27//early infantile epileptic encephalopathy caused by mutation in grin2b//eiee27//epileptic encephalopathy, early infantile, 27//epileptic encephalopathy, early infantile, type 27//grin2b early infantile epileptic encephalopathy	GRIN2B	GRIN2B	https://raresource.nih.gov/literature/disease/0016063	0016063	616139		C4015316		glutamate ionotropic receptor NMDA type subunit 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 27"	None
Vitelliform macular dystrophy 4	impg1 vitelliform macular dystrophy//macular dystrophy, vitelliform, 4//macular dystrophy, vitelliform, type 4//vitelliform macular dystrophy caused by mutation in impg1	IMPG1	IMPG1	https://raresource.nih.gov/literature/disease/0016064	0016064	616151		C4015342		interphotoreceptor matrix proteoglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitelliform macular dystrophy 4"	None
Vitelliform macular dystrophy 5	impg2 vitelliform macular dystrophy//macular dystrophy, vitelliform, 5//macular dystrophy, vitelliform, type 5//vitelliform macular dystrophy caused by mutation in impg2	IMPG2	IMPG2	https://raresource.nih.gov/literature/disease/0016065	0016065	616152		C4015343		interphotoreceptor matrix proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitelliform macular dystrophy 5"	None
Nemaline myopathy 10	lmod3 nemaline myopathy//nem10//nemaline myopathy caused by mutation in lmod3//nemaline myopathy type 10	LMOD3	LMOD3	https://raresource.nih.gov/literature/disease/0016066	0016066	616165		C4015360		leiomodin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 10"	1
Aortic aneurysm, familial thoracic 9	aat9//aortic aneurysm, familial thoracic type 9//familial thoracic aortic aneurysm and aortic dissection caused by mutation in mfap5//mfap5 familial thoracic aortic aneurysm and aortic dissection	MFAP5	MFAP5	https://raresource.nih.gov/literature/disease/0016067	0016067	616166		C4015368		microfibril associated protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 9"	None
Amyotrophic lateral sclerosis type 22	als 22//amyotrophic lateral sclerosis 22//amyotrophic lateral sclerosis 22 with or without frontotemporal dementia//amyotrophic lateral sclerosis caused by mutation in tuba4a//frontotemporal dementia and/or amyotrophic lateral sclerosis 9//ftdals9//tuba4a amyotrophic lateral sclerosis	TUBA4A	TUBA4A	https://raresource.nih.gov/literature/disease/0016068	0016068	616208		C4015512		tubulin alpha 4a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 22"	None
Developmental and epileptic encephalopathy, 28	dee28//early infantile epileptic encephalopathy caused by mutation in wwox//eiee28//epileptic encephalopathy, early infantile, 28//epileptic encephalopathy, early infantile, type 28//woree syndrome//wwox early infantile epileptic encephalopathy//wwox-related epileptic encephalopathy	WWOX	WWOX	https://raresource.nih.gov/literature/disease/0016069	0016069	616211		C4015519		WW domain containing oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 28"	19
Focal segmental glomerulosclerosis 9	crb2 focal segmental glomerulosclerosis//focal segmental glomerulosclerosis caused by mutation in crb2//focal segmental glomerulosclerosis type 9//fsgs9	CRB2	CRB2	https://raresource.nih.gov/literature/disease/0016070	0016070	616220		C4015555		crumbs cell polarity complex component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal segmental glomerulosclerosis 9"	None
Amelogenesis imperfecta type 1H	ai1h//amelogenesis imperfecta caused by mutation in itgb6//amelogenesis imperfecta type ih//amelogenesis imperfecta, type ih//itgb6 amelogenesis imperfecta	ITGB6	ITGB6	https://raresource.nih.gov/literature/disease/0016071	0016071	616221		C4015557		integrin subunit beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1H"	None
Osteogenesis imperfecta type 16	chromosome 11p11.2 deletion syndrome 91.3-kb//oi, type xvi//oi16//osteogenesis imperfecta type xvi//osteogenesis imperfecta, type xvi	CREB3L1	CREB3L1	https://raresource.nih.gov/literature/disease/0016072	0016072	616229		C4015610		cAMP responsive element binding protein 3 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 16"	1
Long QT syndrome 14	calm1 long qt syndrome//long qt syndrome caused by mutation in calm1//long qt syndrome type 14//lqt14	CALM1	CALM1	https://raresource.nih.gov/literature/disease/0016073	0016073	616247		C4015671		calmodulin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 14"	2
Long QT syndrome 15	calm2 long qt syndrome//long qt syndrome caused by mutation in calm2//long qt syndrome type 15//lqt15	CALM2	CALM2	https://raresource.nih.gov/literature/disease/0016074	0016074	616249		C4015695		calmodulin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 15"	2
Congenital contractures of the limbs and face, hypotonia, and developmental delay	clifahdd//clifahdd (congenital limbs, face contractures, hypotonia, developmental delay) syndrome//clifahdd syndrome//congenital contracture of limbs and face, hypotonia, developmental delay syndrome//congenital limbs-face contractures-hypotonia-developmental delay syndrome	NALCN	NALCN	https://raresource.nih.gov/literature/disease/0016075	0016075	616266	562528	C4225398		sodium leak channel, non-selective	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital contractures of the limbs and face, hypotonia, and developmental delay"	15
Amelogenesis imperfecta type 1F	ai1f//ambn amelogenesis imperfecta//amelogenesis imperfecta caused by mutation in ambn//amelogenesis imperfecta hypoplastic type if//amelogenesis imperfecta type if//amelogenesis imperfecta, hypoplastic type if//amelogenesis imperfecta, type if	AMBN	AMBN	https://raresource.nih.gov/literature/disease/0016076	0016076	616270		C4225394		ameloblastin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 1F"	None
Cole-Carpenter syndrome 2	clcrp2//cole-carpenter syndrome caused by mutation in sec24d//cole-carpenter syndrome type 2//sec24d cole-carpenter syndrome	SEC24D	SEC24D	https://raresource.nih.gov/literature/disease/0016077	0016077	616294		C4225382		SEC24 homolog D, COPII coat complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cole-Carpenter syndrome 2"	4
Singleton-Merten syndrome 2	ddx58 singleton-merten dysplasia//sgmrt2//singleton-merten dysplasia caused by mutation in ddx58//singleton-merten syndrome type 2	RIGI	RIGI	https://raresource.nih.gov/literature/disease/0016078	0016078	616298		C4225380		RNA sensor RIG-I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Singleton-Merten syndrome 2"	1
Short-rib thoracic dysplasia 13 with or without polydactyly	srtd13	CEP120	CEP120	https://raresource.nih.gov/literature/disease/0016079	0016079	616300		C4225378		centrosomal protein 120	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 13 with or without polydactyly"	None
Congenital myasthenic syndrome 17	cms17//congenital myasthenic syndrome caused by mutation in lrp4//congenital myasthenic syndrome type 17//lrp4 congenital myasthenic syndrome//myasthenic syndrome, congenital, type 17	LRP4	LRP4	https://raresource.nih.gov/literature/disease/0016080	0016080	616304		C4225377		LDL receptor related protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 17"	1
Senior-Loken syndrome 8	senior-loken syndrome caused by mutation in wdr19//senior-loken syndrome type 8//slsn8//wdr19 senior-loken syndrome	WDR19	WDR19	https://raresource.nih.gov/literature/disease/0016081	0016081	616307		C4225376		WD repeat domain 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 8"	None
Intellectual disability, autosomal dominant 33	autosomal dominant intellectual disability 33//autosomal dominant mental retardation 33//autosomal dominant non-syndromic intellectual disability caused by mutation in dpp6//dpp6 autosomal dominant non-syndromic intellectual disability//intellectual developmental disorder, autosomal dominant 33//intellectual disability, autosomal dominant type 33//mental retardation, autosomal dominant type 33//mrd33	DPP6	DPP6	https://raresource.nih.gov/literature/disease/0016082	0016082	616311		C4225375		dipeptidyl peptidase like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 33"	None
Congenital myasthenic syndrome 2C	cms2c//congenital myasthenic syndrome 2c associated with acetylcholine receptor deficiency//congenital myasthenic syndrome type 2c//myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	CHRNB1	CHRNB1	https://raresource.nih.gov/literature/disease/0016083	0016083	616314		C4225373		cholinergic receptor nicotinic beta 1 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 2C"	None
Congenital myasthenic syndrome 3A	cms3a//congenital myasthenic syndrome 3a, slow-channel//congenital myasthenic syndrome type 3a//myasthenic syndrome, congenital, 3a, slow-channel	CHRND	CHRND	https://raresource.nih.gov/literature/disease/0016084	0016084	616321		C4225372		cholinergic receptor nicotinic delta subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 3A"	None
Congenital myasthenic syndrome 3B	chrnd-related congenital myasthenic syndrome//cms3b//congenital myasthenic syndrome 3b, fast-channel//congenital myasthenic syndrome type 3b//myasthenic syndrome, congenital, 3b, fast-channel	CHRND	CHRND	https://raresource.nih.gov/literature/disease/0016085	0016085	616322		C4225371		cholinergic receptor nicotinic delta subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 3B"	None
Congenital myasthenic syndrome 3C	congenital myasthenic syndrome 3c associated with acetylcholine receptor deficiency//congenital myasthenic syndrome type 3c//myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	CHRND	CHRND	https://raresource.nih.gov/literature/disease/0016086	0016086	616323		C4225370		cholinergic receptor nicotinic delta subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 3C"	None
Congenital myasthenic syndrome 4B	cms4b//congenital myasthenic syndrome 4b fast-channel//congenital myasthenic syndrome type 4b//myasthenic syndrome, congenital, 4b, fast-channel	CHRNE	CHRNE	https://raresource.nih.gov/literature/disease/0016087	0016087	616324		C4225369		cholinergic receptor nicotinic epsilon subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 4B"	None
Congenital myasthenic syndrome 9	cms9//congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency//congenital myasthenic syndrome caused by mutation in musk//congenital myasthenic syndrome type 9//musk congenital myasthenic syndrome//myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	MUSK	MUSK	https://raresource.nih.gov/literature/disease/0016088	0016088	616325		C4225368		muscle associated receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 9"	2
Congenital myasthenic syndrome 11	cms ie//cms11//cms1e//congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency//congenital myasthenic syndrome 1e//congenital myasthenic syndrome caused by mutation in rapsn//congenital myasthenic syndrome type 11//myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency//myasthenic syndrome, congenital, ie//rapsn congenital myasthenic syndrome	RAPSN	RAPSN	https://raresource.nih.gov/literature/disease/0016089	0016089	616326		C4225367	C563831	receptor associated protein of the synapse	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 11"	None
Maturity-onset diabetes of the young type 13	kcnj11 maturity-onset diabetes of the young (disease)//maturity-onset diabetes of the young (disease) caused by mutation in kcnj11//mody type 13//mody, type 13//mody13	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0016090	0016090	616329		C4225365		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 13"	5
Congenital myasthenic syndrome 18	cms18//congenital myasthenic syndrome caused by mutation in snap25//congenital myasthenic syndrome type 18//myasthenic syndrome, congenital, 18//myasthenic syndrome, congenital, 18, with intellectual disability and ataxia//myasthenic syndrome, congenital, type 18//snap25 congenital myasthenic syndrome//snap25-dee	SNAP25	SNAP25	https://raresource.nih.gov/literature/disease/0016091	0016091	616330		C4225364		synaptosome associated protein 25	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 18"	2
Developmental and epileptic encephalopathy, 29	aars early infantile epileptic encephalopathy//dee29//early infantile epileptic encephalopathy caused by mutation in aars//eiee29//epileptic encephalopathy, early infantile, 29//epileptic encephalopathy, early infantile, type 29	AARS1	AARS1	https://raresource.nih.gov/literature/disease/0016092	0016092	616339		C4225361		alanyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 29"	None
Developmental and epileptic encephalopathy, 30	dee30//early infantile epileptic encephalopathy caused by mutation in sik1//eiee30//epileptic encephalopathy, early infantile, 30//epileptic encephalopathy, early infantile, type 30//sik1 early infantile epileptic encephalopathy	SIK1	SIK1	https://raresource.nih.gov/literature/disease/0016093	0016093	616341		C4225360		salt inducible kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 30"	1
Developmental and epileptic encephalopathy, 31A	dee31a//developmental and epileptic encephalopathy 31a, autosomal dominant//developmental and epileptic encephalopathy, 31//dnm1 early infantile epileptic encephalopathy//epileptic encephalopathy, early infantile, 31	DNM1	DNM1	https://raresource.nih.gov/literature/disease/0016094	0016094	616346		C4225357		dynamin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 31A"	None
Dyskeratosis congenita, autosomal recessive 6	dkcb6//dyskeratosis congenita caused by mutation in parn//dyskeratosis congenita, autosomal recessive type 6//parn dyskeratosis congenita	PARN	PARN	https://raresource.nih.gov/literature/disease/0016095	0016095	616353		C4225356		poly(A)-specific ribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 6"	None
Developmental and epileptic encephalopathy, 32	dee32//early infantile epileptic encephalopathy caused by mutation in kcna2//eiee32//epileptic encephalopathy, early infantile, 32//epileptic encephalopathy, early infantile, type 32//kcna2 early infantile epileptic encephalopathy	KCNA2	KCNA2	https://raresource.nih.gov/literature/disease/0016096	0016096	616366		C4225350		potassium voltage-gated channel subfamily A member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 32"	1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	parn pulmonary fibrosis and/or bone marrow failure, telomere-related//pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4//pulmonary fibrosis and/or bone marrow failure, telomere-related caused by mutation in parn//pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4	PARN	PARN	https://raresource.nih.gov/literature/disease/0016097	0016097	616371		C4225347		poly(A)-specific ribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4"	None
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3//pulmonary fibrosis and/or bone marrow failure, telomere-related caused by mutation in rtel1//pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3//rtel1 pulmonary fibrosis and/or bone marrow failure, telomere-related	RTEL1	RTEL1	https://raresource.nih.gov/literature/disease/0016098	0016098	616373		C4225346		regulator of telomere elongation helicase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"	None
Congenital stationary night blindness 1G	congenital stationary night blindness type 1g//csnb1g	GNAT1	GNAT1	https://raresource.nih.gov/literature/disease/0016099	0016099	616389		C4225345		G protein subunit alpha transducin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1G"	None
Trichothiodystrophy 2, photosensitive	ttd2	ERCC3	ERCC3	https://raresource.nih.gov/literature/disease/0016100	0016100	616390		C4225344		ERCC excision repair 3, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 2, photosensitive"	1
Retinitis pigmentosa 71	ift172 retinitis pigmentosa//retinitis pigmentosa caused by mutation in ift172//retinitis pigmentosa type 71//rp71	IFT172	IFT172	https://raresource.nih.gov/literature/disease/0016101	0016101	616394		C4225342		intraflagellar transport 172	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 71"	None
Trichothiodystrophy 3, photosensitive	trichothiodystrophy, complementation group a//ttd3	GTF2H5	GTF2H5	https://raresource.nih.gov/literature/disease/0016102	0016102	616395		C4017171		general transcription factor IIH subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 3, photosensitive"	2
Myoclonic dystonia 26	kctd17 myoclonus-dystonia syndrome//myoclonic dystonia type 26//myoclonus-dystonia syndrome caused by mutation in kctd17	KCTD17	KCTD17	https://raresource.nih.gov/literature/disease/0016103	0016103	616398		C4225341		potassium channel tetramerization domain containing 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonic dystonia 26"	None
Brugada syndrome 9	brgda9//brugada syndrome caused by mutation in kcnd3//brugada syndrome type 9//kcnd3 brugada syndrome	KCND3	KCND3	https://raresource.nih.gov/literature/disease/0016104	0016104	616399		C4225340		potassium voltage-gated channel subfamily D member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 9"	None
Microcephaly 14, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in sass6//sass6 autosomal recessive primary microcephaly	SASS6	SASS6	https://raresource.nih.gov/literature/disease/0016105	0016105	616402		C4225338		SAS-6 centriolar assembly protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 14, primary, autosomal recessive"	None
Developmental and epileptic encephalopathy, 33	dee33//early infantile epileptic encephalopathy caused by mutation in eef1a2//eef1a2 early infantile epileptic encephalopathy//eef1a2-related neurodevelopmental disorder//eiee33//epileptic encephalopathy, early infantile, 33//epileptic encephalopathy, early infantile, type 33	EEF1A2	EEF1A2	https://raresource.nih.gov/literature/disease/0016106	0016106	616409		C4225337		eukaryotic translation elongation factor 1 alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 33"	2
Basal ganglia calcification, idiopathic, 6	basal ganglia calcification, idiopathic, type 6//bilateral striopallidodentate calcinosis caused by mutation in xpr1//ibgc6//xpr1 bilateral striopallidodentate calcinosis	XPR1	XPR1	https://raresource.nih.gov/literature/disease/0016107	0016107	616413		C4225335		xenotropic and polytropic retrovirus receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 6"	None
Epilepsy with myoclonic atonic seizures	doose syndrome//emas//emats//emats - epilepsy with myoclonic-atonic seizures//epilepsy with myoclonic-astatic seizures//generalised myoclonic-atonic seizure//generalized myoclonic-atonic seizure//mae//myoclonic atonic epilepsy//myoclonic atonic seizures//myoclonic-astatic epilepsy//myoclonic-astatic epilepsy in early childhood//myoclonic-astatic seizure//myoclonic-atonic epilepsy	SLC6A1	SLC6A1	https://raresource.nih.gov/literature/disease/0016108	0016108	616421	1942	C0393702		solute carrier family 6 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy with myoclonic atonic seizures"	322
46,XY sex reversal 10	46,xy sex reversal type 10//chromosome 17q24 deletion syndrome//srxy10	SOX9	SOX9	https://raresource.nih.gov/literature/disease/0016109	0016109	616425		C4225331		SRY-box transcription factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 10"	None
Microphthalmia, isolated, with coloboma 10	mcopcb10//microphthalmia, isolated, with coloboma caused by mutation in rbp4//microphthalmia, isolated, with coloboma type 10//microphthalmia/coloboma 10//rbp4 microphthalmia, isolated, with coloboma	RBP4	RBP4	https://raresource.nih.gov/literature/disease/0016110	0016110	616428		C4225330		retinol binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, isolated, with coloboma 10"	None
Fanconi anemia complementation group T	fanconi anaemia caused by mutation in ube2t//fanconi anaemia complementation group type t//fanconi anemia caused by mutation in ube2t//fanconi anemia complementation group type t//fanconi anemia, complementation group type t//fanct//ube2t fanconi anaemia//ube2t fanconi anemia	UBE2T	UBE2T	https://raresource.nih.gov/literature/disease/0016111	0016111	616435		C4084840		ubiquitin conjugating enzyme E2 T	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group T"	1
Familial temporal lobe epilepsy 7	epilepsy, familial temporal lobe, type 7//etl7//familial temporal lobe epilepsy type 7	RELN	RELN	https://raresource.nih.gov/literature/disease/0016112	0016112	616436		C4225327		reelin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial temporal lobe epilepsy 7"	None
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	frontotemporal dementia and/or amyotrophic lateral sclerosis type 3//ftdals3	SQSTM1	SQSTM1	https://raresource.nih.gov/literature/disease/0016113	0016113	616437		C4225326		sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	None
Candidiasis, familial, 9	candf9//candidiasis, familial, type 9//chronic mucocutaneous candidiasis (disease) caused by mutation in il17rc//il17rc chronic mucocutaneous candidiasis (disease)	IL17RC	IL17RC	https://raresource.nih.gov/literature/disease/0016114	0016114	616445		C4225324		interleukin 17 receptor C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Candidiasis, familial, 9"	None
Zimmermann-Laband syndrome 2	atp6v1b2 zimmermann-laband syndrome//zimmermann-laband syndrome caused by mutation in atp6v1b2//zimmermann-laband syndrome type 2//zls2	ATP6V1B2	ATP6V1B2	https://raresource.nih.gov/literature/disease/0016115	0016115	616455		C4225321		ATPase H+ transporting V1 subunit B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zimmermann-Laband syndrome 2"	3
Familial temporal lobe epilepsy 8	epilepsy, familial temporal lobe, type 8//etl8//familial temporal lobe epilepsy type 8	GAL	GAL	https://raresource.nih.gov/literature/disease/0016116	0016116	616461		C4225318		galanin and GMAP prepropeptide	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial temporal lobe epilepsy 8"	None
Acrofacial dysostosis Cincinnati type	acrofacial dysostosis caused by mutation in polr1a//polr1a acrofacial dysostosis	POLR1A	POLR1A	https://raresource.nih.gov/literature/disease/0016117	0016117	616462		C4225317		RNA polymerase I subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrofacial dysostosis Cincinnati type"	3
Exudative vitreoretinopathy 6	evr6//exudative vitreoretinopathy caused by mutation in znf408//exudative vitreoretinopathy type 6//znf408 exudative vitreoretinopathy	ZNF408	ZNF408	https://raresource.nih.gov/literature/disease/0016118	0016118	616468		C4225316		zinc finger protein 408	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exudative vitreoretinopathy 6"	None
Retinitis pigmentosa 72	retinitis pigmentosa caused by mutation in znf408//retinitis pigmentosa type 72//rp72//znf408 retinitis pigmentosa	ZNF408	ZNF408	https://raresource.nih.gov/literature/disease/0016119	0016119	616469		C4225315		zinc finger protein 408	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 72"	None
Ullrich congenital muscular dystrophy 2	col12a1 ullrich congenital muscular dystrophy//ucmd2//ullrich congenital muscular dystrophy caused by mutation in col12a1//ullrich congenital muscular dystrophy type 2	COL12A1	COL12A1	https://raresource.nih.gov/literature/disease/0016120	0016120	616470		C4225314		collagen type XII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ullrich congenital muscular dystrophy 2"	2
Bethlem myopathy 2	bethlem myopathy caused by mutation in col12a1//bethlem myopathy type 2//bthlm2//col12a1 bethlem myopathy//eds, myopathic type//eds/myopathy overlap syndrome//ehlers-danlos syndrome, myopathic type//myopathic eds//myopathic ehlers-danlos syndrome	COL12A1	COL12A1	https://raresource.nih.gov/literature/disease/0016121	0016121	616471	536516	C4225313		collagen type XII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bethlem myopathy 2"	13
Primary ciliary dyskinesia 32	cild32//ciliary dyskinesia, primary, 32, without situs inversus//ciliary dyskinesia, primary, type 32//primary ciliary dyskinesia 32 without situs inversus//primary ciliary dyskinesia caused by mutation in rsph3//primary ciliary dyskinesia type 32//rsph3 primary ciliary dyskinesia	RSPH3	RSPH3	https://raresource.nih.gov/literature/disease/0016122	0016122	616481		C4225311		radial spoke head 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 32"	None
Microcephaly 15, primary, autosomal recessive	nedmisba//neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities//neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	MFSD2A	MFSD2A	https://raresource.nih.gov/literature/disease/0016123	0016123	616486		C4225310		MFSD2 lysolipid transporter A, lysophospholipid	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 15, primary, autosomal recessive"	None
Joubert syndrome 23	jbts23//joubert syndrome caused by mutation in kiaa0586//joubert syndrome type 23//kiaa0586 joubert syndrome	KIAA0586	KIAA0586	https://raresource.nih.gov/literature/disease/0016124	0016124	616490		C4084822		KIAA0586	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 23"	2
Cone-rod dystrophy 21	cone-rod dystrophy caused by mutation in dram2//cone-rod dystrophy type 21//dram2 cone-rod dystrophy//retinal dystrophy with early macular involvement	DRAM2	DRAM2	https://raresource.nih.gov/literature/disease/0016125	0016125	616502		C4049066		DNA damage regulated autophagy modulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 21"	None
Osteogenesis imperfecta type 17	oi17//osteogenesis imperfecta caused by mutation in sparc//osteogenesis imperfecta type xvii//osteogenesis imperfecta, type xvii//sparc osteogenesis imperfecta	SPARC	SPARC	https://raresource.nih.gov/literature/disease/0016126	0016126	616507		C4225301		secreted protein acidic and cysteine rich	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 17"	None
Cataract 44	cataract 44 and hypotrichosis//cataract type 44//ctrct44//early-onset non-syndromic cataract caused by mutation in lss//lss early-onset non-syndromic cataract	LSS	LSS	https://raresource.nih.gov/literature/disease/0016127	0016127	616509		C4225300		lanosterol synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 44"	None
Maturity-onset diabetes of the young type 14	appl1 maturity-onset diabetes of the young (disease)//maturity-onset diabetes of the young (disease) caused by mutation in appl1//mody 14//mody14	APPL1	APPL1	https://raresource.nih.gov/literature/disease/0016128	0016128	616511		C4225299		adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maturity-onset diabetes of the young type 14"	1
Achromatopsia 7	achm7//achromatopsia caused by mutation in atf6//achromatopsia type 7//atf6 achromatopsia	ATF6	ATF6	https://raresource.nih.gov/literature/disease/0016129	0016129	616517		C4225297		activating transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia 7"	1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	nedsplb	PI4KA	PI4KA	https://raresource.nih.gov/literature/disease/0016130	0016130	616531		C4225295		phosphatidylinositol 4-kinase alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"	1
Thyroid cancer, nonmedullary, 4	foxe1 thyroid cancer, nonmedullary//nmtc4//thyroid cancer, nonmedullary caused by mutation in foxe1//thyroid cancer, nonmedullary, type 4	FOXE1	FOXE1	https://raresource.nih.gov/literature/disease/0016132	0016132	616534		C4225293		forkhead box E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid cancer, nonmedullary, 4"	None
Thyroid cancer, nonmedullary, 5	habp2 thyroid cancer, nonmedullary//nmtc5//thyroid cancer, nonmedullary caused by mutation in habp2//thyroid cancer, nonmedullary, type 5	HABP2	HABP2	https://raresource.nih.gov/literature/disease/0016133	0016133	616535		C4225292		hyaluronan binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid cancer, nonmedullary, 5"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	walker-warburg syndrome or muscle-eye brain disease, dag1-related	DAG1	DAG1	https://raresource.nih.gov/literature/disease/0016134	0016134	616538		C4225291		dystroglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9"	None
Retinitis pigmentosa 73	hgsnat retinitis pigmentosa//retinitis pigmentosa caused by mutation in hgsnat//retinitis pigmentosa type 73//rp73	HGSNAT	HGSNAT	https://raresource.nih.gov/literature/disease/0016135	0016135	616544		C4225287		heparan-alpha-glucosaminide N-acetyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 73"	None
Dyskeratosis congenita, autosomal dominant 6	dkca6//dyskeratosis congenita, autosomal dominant type 6	ACD	ACD	https://raresource.nih.gov/literature/disease/0016136	0016136	616553		C4225284		ACD shelterin complex subunit and telomerase recruitment factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal dominant 6"	None
Noonan syndrome 9	noonan syndrome caused by mutation in sos2//noonan syndrome type 9//ns9//sos2 noonan syndrome	SOS2	SOS2	https://raresource.nih.gov/literature/disease/0016137	0016137	616559		C4225282		SOS Ras/Rho guanine nucleotide exchange factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 9"	1
Retinitis pigmentosa 74	bbs2 retinitis pigmentosa//retinitis pigmentosa caused by mutation in bbs2//retinitis pigmentosa type 74//rp74	BBS2	BBS2	https://raresource.nih.gov/literature/disease/0016138	0016138	616562		C4225281		Bardet-Biedl syndrome 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 74"	None
Noonan syndrome 10	lztr1 noonan syndrome//noonan syndrome caused by mutation in lztr1//noonan syndrome type 10//ns10	LZTR1	LZTR1	https://raresource.nih.gov/literature/disease/0016139	0016139	616564		C4225280		leucine zipper like post translational regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 10"	1
Cerebrooculofacioskeletal syndrome 3	cerebrooculofacioskeletal syndrome type 3//cofs3	ERCC5	ERCC5	https://raresource.nih.gov/literature/disease/0016140	0016140	616570		C1851443	C565035	ERCC excision repair 5, endonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrooculofacioskeletal syndrome 3"	None
Immunodeficiency, common variable, 12	common variable immunodeficiency caused by mutation in nfkb1//cvid12//immunodeficiency, common variable, 12, with autoimmunity//immunodeficiency, common variable, type 12//nfkb1 common variable immunodeficiency//nfkb1 deficiency	NFKB1	NFKB1	https://raresource.nih.gov/literature/disease/0016141	0016141	616576		C4225277		nuclear factor kappa B subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 12"	5
Adams-Oliver syndrome 6	adams-oliver syndrome caused by mutation in dll4//adams-oliver syndrome type 6//aos6//dll4 adams-oliver syndrome	DLL4	DLL4	https://raresource.nih.gov/literature/disease/0016142	0016142	616589		C4225271		delta like canonical Notch ligand 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome 6"	None
Cutis laxa, autosomal dominant 3	adcl3//cutis laxa, autosomal dominant type 3	ALDH18A1	ALDH18A1	https://raresource.nih.gov/literature/disease/0016143	0016143	616603		C4225268		aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal dominant 3"	1
Senior-Loken syndrome 9	senior-loken syndrome 9; slsn9//senior-loken syndrome caused by mutation in traf3ip1//senior-loken syndrome type 9//slsn9//traf3ip1 senior-loken syndrome	TRAF3IP1	TRAF3IP1	https://raresource.nih.gov/literature/disease/0016145	0016145	616629		C4225263		TRAF3 interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 9"	None
Porokeratosis 9, multiple types	fdps porokeratosis (disease)//porok9//porokeratosis (disease) caused by mutation in fdps//porokeratosis 9, multiple types; porok9	FDPS	FDPS	https://raresource.nih.gov/literature/disease/0016146	0016146	616631		C4225262		farnesyl diphosphate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 9, multiple types"	None
Developmental and epileptic encephalopathy, 34	dee34//early infantile epileptic encephalopathy 34//early infantile epileptic encephalopathy caused by mutation in slc12a5//eiee34//epileptic encephalopathy, early infantile, 34//epileptic encephalopathy, early infantile, 34; eiee34//epileptic encephalopathy, early infantile, type 34//slc12a5 early infantile epileptic encephalopathy	SLC12A5	SLC12A5	https://raresource.nih.gov/literature/disease/0016147	0016147	616645		C4225257		solute carrier family 12 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 34"	None
Hereditary spherocytosis type 2	hereditary spherocytosis 2//hereditary spherocytosis caused by mutation in sptb//hs2//sph2//spherocytosis, type 2//spherocytosis, type 2, autosomal dominant//sptb hereditary spherocytosis	SPTB	SPTB	https://raresource.nih.gov/literature/disease/0016149	0016149	616649		C2674219		spectrin beta, erythrocytic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis type 2"	3
Joubert syndrome 24	jbts24//joubert syndrome caused by mutation in tctn2//joubert syndrome type 24//tctn2 joubert syndrome	TCTN2	TCTN2	https://raresource.nih.gov/literature/disease/0016150	0016150	616654		C4084841		tectonic family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 24"	None
Microcephaly 16, primary, autosomal recessive	mcph16//microcephaly 16, primary, autosomal recessive; mcph16	ANKLE2	ANKLE2	https://raresource.nih.gov/literature/disease/0016151	0016151	616681		C4225249		ankyrin repeat and LEM domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 16, primary, autosomal recessive"	None
Dehydrated hereditary stomatocytosis 2	dehydrated hereditary stomatocytosis 2; dhs2//dehydrated hereditary stomatocytosis caused by mutation in kcnn4//dehydrated hereditary stomatocytosis type 2//desiccytosis gardos//dhs2//kcnn4 dehydrated hereditary stomatocytosis//xerocytosis gardos	KCNN4	KCNN4	https://raresource.nih.gov/literature/disease/0016152	0016152	616689		C4225242		potassium calcium-activated channel subfamily N member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dehydrated hereditary stomatocytosis 2"	None
Congenital myasthenic syndrome 19	cms19//col13a1 congenital myasthenic syndrome//congenital myasthenic syndrome caused by mutation in col13a1//congenital myasthenic syndrome type 19//myasthenic syndrome, congenital, 19//myasthenic syndrome, congenital, type 19	COL13A1	COL13A1	https://raresource.nih.gov/literature/disease/0016153	0016153	616720		C4225235		collagen type XIII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 19"	7
Primary ciliary dyskinesia 33	cild33//ciliary dyskinesia, primary, 33//ciliary dyskinesia, primary, 33, without situs inversus//ciliary dyskinesia, primary, type 33//gas8 primary ciliary dyskinesia//primary ciliary dyskinesia 33 without situs inversus//primary ciliary dyskinesia caused by mutation in gas8//primary ciliary dyskinesia type 33	GAS8	GAS8	https://raresource.nih.gov/literature/disease/0016154	0016154	616726		C4225230		growth arrest specific 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 33"	None
Nephrotic syndrome, type 11	familial nephrotic syndrome caused by mutation in nup107//nephrotic syndrome, type 11; nphs11//nphs11//nup107 familial nephrotic syndrome	NUP107	NUP107	https://raresource.nih.gov/literature/disease/0016155	0016155	616730		C4225228		nucleoporin 107	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 11"	None
Skin creases, congenital symmetric circumferential, 2	cscsc2//mapre2 multiple benign circumferential skin creases on limbs//multiple benign circumferential skin creases on limbs caused by mutation in mapre2//skin creases, congenital symmetric circumferential, 2; cscsc2//skin creases, congenital symmetric circumferential, type 2//symmetric circumferential skin creases, congenital, 2	MAPRE2	MAPRE2	https://raresource.nih.gov/literature/disease/0016156	0016156	616734		C4225225		microtubule associated protein RP/EB family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skin creases, congenital symmetric circumferential, 2"	1
Wooly hair, autosomal recessive 3	arwh3//krt25 woolly hair (disease)//krt25 wooly hair (disease)//woolly hair (disease) caused by mutation in krt25//woolly hair, autosomal recessive 3//woolly hair, autosomal recessive 3, with hypotrichosis//woolly hair, autosomal recessive type 3//wooly hair (disease) caused by mutation in krt25//wooly hair, autosomal recessive type 3	KRT25	KRT25	https://raresource.nih.gov/literature/disease/0016157	0016157	616760		C4225214		keratin 25	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wooly hair, autosomal recessive 3"	None
Seckel syndrome 9	sckl9//seckel syndrome caused by mutation in traip//seckel syndrome type 9//traip seckel syndrome	TRAIP	TRAIP	https://raresource.nih.gov/literature/disease/0016158	0016158	616777		C4225212		TRAF interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 9"	None
Joubert syndrome 25	cep104 joubert syndrome//jbts25//joubert syndrome caused by mutation in cep104//joubert syndrome type 25	CEP104	CEP104	https://raresource.nih.gov/literature/disease/0016159	0016159	616781		C4084842		centrosomal protein 104	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 25"	None
Joubert syndrome 26	jbts26//joubert syndrome caused by mutation in kiaa0556//joubert syndrome type 26//kiaa0556 joubert syndrome	KATNIP	KATNIP	https://raresource.nih.gov/literature/disease/0016160	0016160	616784		C4084843		katanin interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 26"	None
Wilms tumor 6	wilms tumor 6, susceptibility to//wilms tumor 6; wt6//wilms tumor type 6//wilms tumour 6; wt6//wilms tumour type 6//wt6	REST	REST	https://raresource.nih.gov/literature/disease/0016162	0016162	616806		C3891301		RE1 silencing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilms tumor 6"	None
Meier-Gorlin syndrome 6	gmnn meier-gorlin syndrome//meier-gorlin syndrome caused by mutation in gmnn//meier-gorlin syndrome type 6//mgors6	GMNN	GMNN	https://raresource.nih.gov/literature/disease/0016163	0016163	616835		C4225188		geminin DNA replication inhibitor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 6"	None
Brachydactyly type A1D	bda1d//bmpr1b brachydactyly type a1//brachydactyly type a1 caused by mutation in bmpr1b	BMPR1B	BMPR1B	https://raresource.nih.gov/literature/disease/0016164	0016164	616849		C4225183		bone morphogenetic protein receptor type 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type A1D"	None
Advanced sleep phase syndrome 3	advanced sleep phase syndrome caused by mutation in per3//advanced sleep phase syndrome type 3//advanced sleep phase syndrome, familial, 3//advanced sleep phase syndrome, familial, type 3//familial advanced sleep phase syndrome 3//fasps3//per3 advanced sleep phase syndrome	PER3	PER3	https://raresource.nih.gov/literature/disease/0016165	0016165	616882		C4225169		period circadian regulator 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Advanced sleep phase syndrome 3"	None
Nephrotic syndrome, type 12	familial nephrotic syndrome caused by mutation in nup93//nephrotic syndrome, type 12; nphs12//nphs12//nup93 familial nephrotic syndrome	NUP93	NUP93	https://raresource.nih.gov/literature/disease/0016166	0016166	616892		C4225166		nucleoporin 93	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 12"	None
Nephrotic syndrome, type 13	familial nephrotic syndrome caused by mutation in nup205//nephrotic syndrome, type 13; nphs13//nphs13//nup205 familial nephrotic syndrome	NUP205	NUP205	https://raresource.nih.gov/literature/disease/0016167	0016167	616893		C4225165		nucleoporin 205	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 13"	None
Immunodeficiency-centromeric instability-facial anomalies syndrome 3	cdca7 immunodeficiency-centromeric instability-facial anomalies syndrome//icf syndrome 3//icf3//immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in cdca7//immunodeficiency-centromeric instability-facial anomalies syndrome type 3	CDCA7	CDCA7	https://raresource.nih.gov/literature/disease/0016168	0016168	616910		C4310799		cell division cycle associated 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency-centromeric instability-facial anomalies syndrome 3"	1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4	hells immunodeficiency-centromeric instability-facial anomalies syndrome//icf syndrome 4//icf4//immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in hells//immunodeficiency-centromeric instability-facial anomalies syndrome type 4	HELLS	HELLS	https://raresource.nih.gov/literature/disease/0016169	0016169	616911		C4310798		helicase, lymphoid specific	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency-centromeric instability-facial anomalies syndrome 4"	None
Coffin-Siris syndrome 5	coffin-siris syndrome caused by mutation in smarce1//coffin-siris syndrome type 5//css5//smarce1 coffin-siris syndrome	SMARCE1	SMARCE1	https://raresource.nih.gov/literature/disease/0016170	0016170	616938		C4310788		SWI/SNF related BAF chromatin remodeling complex subunit E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 5"	None
Agammaglobulinemia 8, autosomal dominant	agammaglobulinemia 8, autosomal dominant; agm8//agammaglobulinemia 8a, autosomal dominant//agammaglobulinemia, autosomal dominant, due to tcf3 defect//agm8//agm8a//autosomal agammaglobulinemia caused by mutation in tcf3//tcf3 autosomal agammaglobulinemia	TCF3	TCF3	https://raresource.nih.gov/literature/disease/0016171	0016171	616941		C4310786		transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 8, autosomal dominant"	None
Trichothiodystrophy 6, nonphotosensitive	gtf2e2 nonphotosensitive trichothiodystrophy//nonphotosensitive trichothiodystrophy caused by mutation in gtf2e2//trichothiodystrophy 6, nonphotosensitive; ttd6//ttd6	GTF2E2	GTF2E2	https://raresource.nih.gov/literature/disease/0016172	0016172	616943		C4310785		general transcription factor IIE subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 6, nonphotosensitive"	None
Spermatogenic failure 15	azoospermia caused by mutation in syce1//spermatogenic failure 15; spgf15//spermatogenic failure type 15//spgf15//syce1 azoospermia	SYCE1	SYCE1	https://raresource.nih.gov/literature/disease/0016173	0016173	616950		C4310779		synaptonemal complex central element protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 15"	None
Polycystic liver disease 2	pcld2//polycystic liver disease 2 with or without kidney cysts//polycystic liver disease 2; pcld2//polycystic liver disease type 2	SEC63	SEC63	https://raresource.nih.gov/literature/disease/0016174	0016174	617004		C4310769		SEC63 homolog, protein translocation regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic liver disease 2"	None
Developmental and epileptic encephalopathy, 38	arv1 early infantile epileptic encephalopathy//dee38//early infantile epileptic encephalopathy caused by mutation in arv1//eiee38//epileptic encephalopathy, early infantile, 38//epileptic encephalopathy, early infantile, 38; eiee38//epileptic encephalopathy, early infantile, type 38	ARV1	ARV1	https://raresource.nih.gov/literature/disease/0016175	0016175	617020		C4310762		ARV1 homolog, fatty acid homeostasis modulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 38"	2
Retinitis pigmentosa 75	agbl5 retinitis pigmentosa//retinitis pigmentosa caused by mutation in agbl5//retinitis pigmentosa type 75//rp75	AGBL5	AGBL5	https://raresource.nih.gov/literature/disease/0016176	0016176	617023		C4310759		AGBL carboxypeptidase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 75"	None
Congenital stationary night blindness 1H	congenital stationary night blindness caused by mutation in gnb3//congenital stationary night blindness type 1h//csnb1h//gnb3 congenital stationary night blindness//night blindness, congenital stationary, type 1h	GNB3	GNB3	https://raresource.nih.gov/literature/disease/0016177	0016177	617024		C4310758		G protein subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness 1H"	None
Pontocerebellar hypoplasia, type 2F	non-syndromic pontocerebellar hypoplasia caused by mutation in tsen15//pch2f//pontocerebellar hypoplasia, type 2f; pch2f//tsen15 non-syndromic pontocerebellar hypoplasia	TSEN15	TSEN15	https://raresource.nih.gov/literature/disease/0016178	0016178	617026		C4310757		tRNA splicing endonuclease subunit 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 2F"	None
Hermansky-Pudlak syndrome 10	ap3d1 hermansky-pudlak syndrome//hermansky-pudlak syndrome 10; hps10//hermansky-pudlak syndrome caused by mutation in ap3d1//hermansky-pudlak syndrome type 10//hps10	AP3D1	AP3D1	https://raresource.nih.gov/literature/disease/0016180	0016180	617050	664511	C4310746		adaptor related protein complex 3 subunit delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 10"	2
Meier-Gorlin syndrome 7	cdc45 meier-gorlin syndrome//meier-gorlin syndrome 7; mgors7//meier-gorlin syndrome caused by mutation in cdc45//meier-gorlin syndrome type 7//mgors7	CDC45	CDC45	https://raresource.nih.gov/literature/disease/0016181	0016181	617063		C4310738		cell division cycle 45	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 7"	2
Developmental and epileptic encephalopathy, 40	dee40//early infantile epileptic encephalopathy caused by mutation in guf1//eiee40//epileptic encephalopathy, early infantile, 40//epileptic encephalopathy, early infantile, 40; eiee40//epileptic encephalopathy, early infantile, type 40//guf1 early infantile epileptic encephalopathy	GUF1	GUF1	https://raresource.nih.gov/literature/disease/0016182	0016182	617065		C4310737		GTP binding elongation factor GUF1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 40"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	autosomal recessive progressive external ophthalmoplegia caused by mutation in tk2//peob3//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3; peob3//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive type 3//progressive external ophthalmoplegia, autosomal recessive 3//tk2 autosomal recessive progressive external ophthalmoplegia	TK2	TK2	https://raresource.nih.gov/literature/disease/0016183	0016183	617069		C4310734		thymidine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3"	None
Short-rib thoracic dysplasia 15 with polydactyly	short-rib thoracic dysplasia 15 with polydactyly; srtd15//srtd15	DYNC2LI1	DYNC2LI1	https://raresource.nih.gov/literature/disease/0016185	0016185	617088		C4310724		dynein cytoplasmic 2 light intermediate chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 15 with polydactyly"	1
Microcephaly 17, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in cit//cit autosomal recessive primary microcephaly//mcph17//microcephaly 17, primary, autosomal recessive; mcph17	CIT	CIT	https://raresource.nih.gov/literature/disease/0016186	0016186	617090		C4310723		citron rho-interacting serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 17, primary, autosomal recessive"	1
Primary ciliary dyskinesia 34	cild34//ciliary dyskinesia, primary, 34//ciliary dyskinesia, primary, 34, without situs inversus//ciliary dyskinesia, primary, type 34//dnajb13 primary ciliary dyskinesia//primary ciliary dyskinesia 34 without situs inversus//primary ciliary dyskinesia caused by mutation in dnajb13//primary ciliary dyskinesia type 34	DNAJB13	DNAJB13	https://raresource.nih.gov/literature/disease/0016187	0016187	617091		C4310722		DnaJ heat shock protein family (Hsp40) member B13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 34"	None
Primary ciliary dyskinesia 35	cild35//ciliary dyskinesia, primary, 35//ciliary dyskinesia, primary, 35, with or without situs inversus//ciliary dyskinesia, primary, type 35//primary ciliary dyskinesia 35 with or without situs inversus//primary ciliary dyskinesia caused by mutation in ttc25//primary ciliary dyskinesia type 35//ttc25 primary ciliary dyskinesia	ODAD4	ODAD4	https://raresource.nih.gov/literature/disease/0016188	0016188	617092		C4310721		outer dynein arm docking complex subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia 35"	None
Short-rib thoracic dysplasia 16 with or without polydactyly	short-rib thoracic dysplasia 16 with or without polydactyly; srtd16//srtd16	IFT52	IFT52	https://raresource.nih.gov/literature/disease/0016189	0016189	617102		C4310718		intraflagellar transport 52	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 16 with or without polydactyly"	1
Developmental and epileptic encephalopathy, 41	dee41//early infantile epileptic encephalopathy caused by mutation in slc1a2//eiee41//epileptic encephalopathy, early infantile, 41//epileptic encephalopathy, early infantile, 41; eiee41//epileptic encephalopathy, early infantile, type 41//slc1a2 early infantile epileptic encephalopathy	SLC1A2	SLC1A2	https://raresource.nih.gov/literature/disease/0016190	0016190	617105		C4310717		solute carrier family 1 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 41"	None
Developmental and epileptic encephalopathy, 42	cacna1a early infantile epileptic encephalopathy//dee42//early infantile epileptic encephalopathy caused by mutation in cacna1a//eiee42//epileptic encephalopathy, early infantile, 42//epileptic encephalopathy, early infantile, 42; eiee42//epileptic encephalopathy, early infantile, type 42	CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0016191	0016191	617106		C4310716		calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 42"	1
Developmental and epileptic encephalopathy, 43	dee43//early infantile epileptic encephalopathy caused by mutation in gabrb3//eiee43//epileptic encephalopathy, early infantile, 43//epileptic encephalopathy, early infantile, 43; eiee43//epileptic encephalopathy, early infantile, type 43//gabrb3 early infantile epileptic encephalopathy	GABRB3	GABRB3	https://raresource.nih.gov/literature/disease/0016192	0016192	617113		C4310712		gamma-aminobutyric acid type A receptor subunit beta3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 43"	None
Bardet-Biedl syndrome 22	bardet-biedl syndrome caused by mutation in ift74//bbs22//ift74 bardet-biedl syndrome	IFT74	IFT74	https://raresource.nih.gov/literature/disease/0016193	0016193	617119		C5561936		intraflagellar transport 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 22"	None
Joubert syndrome 27	b9d1 joubert syndrome//jbts27//joubert syndrome caused by mutation in b9d1//joubert syndrome type 27	B9D1	B9D1	https://raresource.nih.gov/literature/disease/0016194	0016194	617120		C4310706		B9 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 27"	None
Joubert syndrome 28	jbts28//joubert syndrome caused by mutation in mks1//joubert syndrome type 28//mks1 joubert syndrome	MKS1	MKS1	https://raresource.nih.gov/literature/disease/0016195	0016195	617121		C4310705		MKS transition zone complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 28"	None
Retinitis pigmentosa 76	pomgnt1 retinitis pigmentosa//retinitis pigmentosa 76; rp76//retinitis pigmentosa caused by mutation in pomgnt1//retinitis pigmentosa type 76//rp76	POMGNT1	POMGNT1	https://raresource.nih.gov/literature/disease/0016196	0016196	617123		C4310704		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 76"	None
Orofaciodigital syndrome XV	ofd15//ofds xv//oral-facial-digital syndrome, type xv//orofaciodigital syndrome type xv	KIAA0753	KIAA0753	https://raresource.nih.gov/literature/disease/0016197	0016197	617127		C4310701		KIAA0753	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome XV"	None
Developmental and epileptic encephalopathy, 44	dee44//early infantile epileptic encephalopathy caused by mutation in uba5//eiee44//epileptic encephalopathy, early infantile, 44//epileptic encephalopathy, early infantile, 44; eiee44//epileptic encephalopathy, early infantile, type 44//uba5 early infantile epileptic encephalopathy	UBA5	UBA5	https://raresource.nih.gov/literature/disease/0016198	0016198	617132		C4310700		ubiquitin like modifier activating enzyme 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 44"	5
Frontometaphyseal dysplasia 2	fmd2//frontometaphyseal dysplasia 2; fmd2//frontometaphyseal dysplasia caused by mutation in map3k7//frontometaphyseal dysplasia type 2//map3k7 frontometaphyseal dysplasia	MAP3K7	MAP3K7	https://raresource.nih.gov/literature/disease/0016199	0016199	617137		C4310697		mitogen-activated protein kinase kinase kinase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontometaphyseal dysplasia 2"	7
Aniridia 2	an2//aniridia ii//aniridia type 2	ELP4	ELP4	https://raresource.nih.gov/literature/disease/0016200	0016200	617141		C0344543	C536372	elongator acetyltransferase complex subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aniridia 2"	4
Aniridia 3	an3//aniridia 3; an3//aniridia type 3//isolated aniridia caused by mutation in trim44//trim44 isolated aniridia	TRIM44	TRIM44	https://raresource.nih.gov/literature/disease/0016201	0016201	617142		C4310695		tripartite motif containing 44	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aniridia 3"	2
Congenital myasthenic syndrome 20	cms20//congenital myasthenic syndrome 20 presynaptic//congenital myasthenic syndrome caused by mutation in slc5a7//congenital myasthenic syndrome type 20//myasthenic syndrome, congenital, 20, presynaptic//slc5a7 congenital myasthenic syndrome	SLC5A7	SLC5A7	https://raresource.nih.gov/literature/disease/0016202	0016202	617143		C4310694		solute carrier family 5 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 20"	3
Developmental and epileptic encephalopathy, 45	dee45//early infantile epileptic encephalopathy caused by mutation in gabrb1//eiee45//epileptic encephalopathy, early infantile, 45//epileptic encephalopathy, early infantile, 45; eiee45//epileptic encephalopathy, early infantile, type 45//gabrb1 early infantile epileptic encephalopathy	GABRB1	GABRB1	https://raresource.nih.gov/literature/disease/0016203	0016203	617153		C4310691		gamma-aminobutyric acid type A receptor subunit beta1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 45"	3
Myopathy, distal, with rimmed vacuoles	dmrv//multisystem proteinopathy 4//myopathy, distal, with rimmed vacuoles; dmrv	SQSTM1	SQSTM1	https://raresource.nih.gov/literature/disease/0016204	0016204	617158		C5399975		sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, distal, with rimmed vacuoles"	63
Developmental and epileptic encephalopathy, 46	dee46//early infantile epileptic encephalopathy caused by mutation in grin2d//eiee46//epileptic encephalopathy, early infantile, 46//epileptic encephalopathy, early infantile, 46; eiee46//epileptic encephalopathy, early infantile, type 46//grin2d early infantile epileptic encephalopathy//grin2d-related complex neurodevelopmental disorder//grin2d-related dee//grin2d-related developmental and epileptic encephalopathy	GRIN2D	GRIN2D	https://raresource.nih.gov/literature/disease/0016205	0016205	617162		C4310687		glutamate ionotropic receptor NMDA type subunit 2D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 46"	None
Developmental and epileptic encephalopathy, 47	dee47//early infantile epileptic encephalopathy caused by mutation in fgf12//eiee47//epileptic encephalopathy, early infantile, 47//epileptic encephalopathy, early infantile, 47; eiee47//epileptic encephalopathy, early infantile, type 47//fgf12 early infantile epileptic encephalopathy	FGF12	FGF12	https://raresource.nih.gov/literature/disease/0016206	0016206	617166		C4310685		fibroblast growth factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 47"	2
Aortic aneurysm, familial thoracic 10	aat10//aortic aneurysm, familial thoracic type 10//familial thoracic aortic aneurysm and aortic dissection caused by mutation in lox//lox familial thoracic aortic aneurysm and aortic dissection	LOX	LOX	https://raresource.nih.gov/literature/disease/0016207	0016207	617168		C4284414		lysyl oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 10"	None
Intellectual developmental disorder, autosomal recessive 74	apc2 sotos syndrome//mrt74//sotos syndrome 3//sotos syndrome caused by mutation in apc2//sotos syndrome type 3//sotos3	APC2	APC2	https://raresource.nih.gov/literature/disease/0016208	0016208	617169		C4310684		APC regulator of WNT signaling pathway 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 74"	None
Ehlers-Danlos syndrome, periodontal type 2		C1S	C1S	https://raresource.nih.gov/literature/disease/0016209	0016209	617174		C4310681		complement C1s	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, periodontal type 2"	None
Periventricular nodular heterotopia 7	nedd4l periventricular nodular heterotopia//periventricular nodular heterotopia 7; pvnh7//periventricular nodular heterotopia caused by mutation in nedd4l//periventricular nodular heterotopia type 7//pvnh7	NEDD4L	NEDD4L	https://raresource.nih.gov/literature/disease/0016210	0016210	617201		C4310669		NEDD4 like E3 ubiquitin protein ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia 7"	4
Amelogenesis imperfecta, hypomaturation type, IIa6	ai2a6//amelogenesis imperfecta, hypomaturation type, iia6; ai2a6	GPR68	GPR68	https://raresource.nih.gov/literature/disease/0016211	0016211	617217		C4310665		G protein-coupled receptor 68	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, hypomaturation type, IIa6"	None
Congenital myasthenic syndrome 21	cms21//congenital myasthenic syndrome 21, presynaptic//congenital myasthenic syndrome caused by mutation in slc18a3//congenital myasthenic syndrome type 21//myasthenic syndrome, congenital, 21, presynaptic//slc18a3 congenital myasthenic syndrome	SLC18A3	SLC18A3	https://raresource.nih.gov/literature/disease/0016212	0016212	617239		C4310654		solute carrier family 18 member A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 21"	None
Fanconi anemia complementation group V	fanconi anaemia caused by mutation in mad2l2//fanconi anaemia complementation group type v//fanconi anemia caused by mutation in mad2l2//fanconi anemia complementation group type v//fanconi anemia, complementation group type v//fancv//mad2l2 fanconi anaemia//mad2l2 fanconi anemia	MAD2L2	MAD2L2	https://raresource.nih.gov/literature/disease/0016213	0016213	617243		C4310652		mitotic arrest deficient 2 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group V"	None
Fanconi anemia complementation group R	fanconi anaemia caused by mutation in rad51//fanconi anaemia complementation group type r//fanconi anemia caused by mutation in rad51//fanconi anemia complementation group type r//fanconi anemia, complementation group type r//fancr//rad51 fanconi anaemia//rad51 fanconi anemia	RAD51	RAD51	https://raresource.nih.gov/literature/disease/0016214	0016214	617244		C4284093		RAD51 recombinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group R"	1
Fanconi anemia complementation group U	fanconi anaemia caused by mutation in xrcc2//fanconi anaemia complementation group type u//fanconi anemia caused by mutation in xrcc2//fanconi anemia complementation group type u//fanconi anemia, complementation group type u//fancu//xrcc2 fanconi anaemia//xrcc2 fanconi anemia	XRCC2	XRCC2	https://raresource.nih.gov/literature/disease/0016215	0016215	617247		C4310651		X-ray repair cross complementing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group U"	None
Uncombable hair syndrome 2	tgm3 uncombable hair syndrome//uhs2//uncombable hair syndrome 2; uhs2//uncombable hair syndrome caused by mutation in tgm3//uncombable hair syndrome type 2	TGM3	TGM3	https://raresource.nih.gov/literature/disease/0016216	0016216	617251		C4310649		transglutaminase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uncombable hair syndrome 2"	None
Uncombable hair syndrome 3	tchh uncombable hair syndrome//uhs3//uncombable hair syndrome 3; uhs3//uncombable hair syndrome caused by mutation in tchh//uncombable hair syndrome type 3	TCHH	TCHH	https://raresource.nih.gov/literature/disease/0016217	0016217	617252		C4310648		trichohyalin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uncombable hair syndrome 3"	None
Developmental and epileptic encephalopathy, 48	ap3b2 early infantile epileptic encephalopathy//dee48//early infantile epileptic encephalopathy caused by mutation in ap3b2//eiee48//epileptic encephalopathy, early infantile, 48//epileptic encephalopathy, early infantile, 48; eiee48//epileptic encephalopathy, early infantile, type 48	AP3B2	AP3B2	https://raresource.nih.gov/literature/disease/0016218	0016218	617276		C4310637		adaptor related protein complex 3 subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 48"	None
Atrial fibrillation, familial, 18	atfb18//atrial fibrillation, familial, 18; atfb18//atrial fibrillation, familial, type 18//familial atrial fibrillation caused by mutation in myl4//myl4 familial atrial fibrillation	MYL4	MYL4	https://raresource.nih.gov/literature/disease/0016219	0016219	617280		C4310636		myosin light chain 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial fibrillation, familial, 18"	None
Amelogenesis imperfecta, type 1J	ai1j//amelogenesis imperfecta, type ij	ACP4	ACP4	https://raresource.nih.gov/literature/disease/0016220	0016220	617297		C4310630		acid phosphatase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, type 1J"	None
Retinitis pigmentosa 77	reep6 retinitis pigmentosa//retinitis pigmentosa caused by mutation in reep6//retinitis pigmentosa type 77//rp77	REEP6	REEP6	https://raresource.nih.gov/literature/disease/0016221	0016221	617304		C4310626		receptor accessory protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 77"	1
MYPN-related myopathy	cmyo24//mypn nemaline myopathy//nem11//nemaline myopathy 11//nemaline myopathy 11, autosomal recessive//nemaline myopathy caused by mutation in mypn//nemaline myopathy type 11	MYPN	MYPN	https://raresource.nih.gov/literature/disease/0016222	0016222	617336		C4479186		myopalladin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYPN-related myopathy"	None
Developmental and epileptic encephalopathy, 52	dee52//eiee52//epileptic encephalopathy, early infantile, 52	SCN1B	SCN1B	https://raresource.nih.gov/literature/disease/0016223	0016223	617350		C4479236		sodium voltage-gated channel beta subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 52"	3
Developmental and epileptic encephalopathy, 53	dee53//eiee53//epileptic encephalopathy, early infantile, 53	SYNJ1	SYNJ1	https://raresource.nih.gov/literature/disease/0016224	0016224	617389		C4479313		synaptojanin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 53"	None
Developmental and epileptic encephalopathy, 54	dee54//eiee54//epileptic encephalopathy, early infantile, 54//hnrnpu-related disorder	HNRNPU	HNRNPU	https://raresource.nih.gov/literature/disease/0016225	0016225	617391		C4479319		heterogeneous nuclear ribonucleoprotein U	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 54"	6
Bardet-biedl syndrome 21		CFAP418	CFAP418	https://raresource.nih.gov/literature/disease/0016226	0016226	617406		C4319932		cilia and flagella associated protein 418	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 21"	None
Diamond-Blackfan anemia 16	dba16	RPL27	RPL27	https://raresource.nih.gov/literature/disease/0016227	0016227	617408		C4479424		ribosomal protein L27	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 16"	None
Diamond-Blackfan anemia 17	dba17	RPS27	RPS27	https://raresource.nih.gov/literature/disease/0016228	0016228	617409		C4479428		ribosomal protein S27	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 17"	None
Retinitis pigmentosa 78	rp78	ARHGEF18	ARHGEF18	https://raresource.nih.gov/literature/disease/0016229	0016229	617433		C4479481		Rho/Rac guanine nucleotide exchange factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 78"	None
Bleeding disorder, platelet-type, 21	bdplt21	FLI1	FLI1	https://raresource.nih.gov/literature/disease/0016230	0016230			C4479515		Fli-1 proto-oncogene, ETS transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding disorder, platelet-type, 21"	None
Retinitis pigmentosa 79	rp79	HK1	HK1	https://raresource.nih.gov/literature/disease/0016231	0016231	617460		C4479526		hexokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 79"	1
Neurodevelopmental disorder with involuntary movements	nedim	GNAO1	GNAO1	https://raresource.nih.gov/literature/disease/0016232	0016232	617493		C4479569		G protein subunit alpha o1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with involuntary movements"	4
Microcephaly 18, primary, autosomal dominant	mcph18	WDFY3	WDFY3	https://raresource.nih.gov/literature/disease/0016233	0016233	617520		C4479608		WD repeat and FYVE domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 18, primary, autosomal dominant"	None
Gaze palsy, familial horizontal, with progressive scoliosis, 2	developmental split-brain syndrome//gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development	DCC	DCC	https://raresource.nih.gov/literature/disease/0016234	0016234	617542		C4479640		DCC netrin 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaze palsy, familial horizontal, with progressive scoliosis, 2"	2
Cohen-Gibson syndrome	cogis	EED	EED	https://raresource.nih.gov/literature/disease/0016235	0016235	617561	659396	C4479654		embryonic ectoderm development	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cohen-Gibson syndrome"	6
Meckel syndrome 13	meckel syndrome, type 13//mks13	TMEM107	TMEM107	https://raresource.nih.gov/literature/disease/0016236	0016236	617562		C4539714		transmembrane protein 107	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome 13"	None
Perrault syndrome 6	prlts6	ERAL1	ERAL1	https://raresource.nih.gov/literature/disease/0016237	0016237	617565		C4479656		Era like 12S mitochondrial rRNA chaperone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 6"	None
Exudative vitreoretinopathy 7		CTNNB1	CTNNB1	https://raresource.nih.gov/literature/disease/0016238	0016238	617572		C4539767		catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exudative vitreoretinopathy 7"	None
Ciliary dyskinesia, primary, 37	cild37//ciliary dyskinesia, primary, 37, with or without situs inversus	DNAH1	DNAH1	https://raresource.nih.gov/literature/disease/0016239	0016239	617577		C4539798		dynein axonemal heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 37"	None
Mosaic variegated aneuploidy syndrome 3	mva3	TRIP13	TRIP13	https://raresource.nih.gov/literature/disease/0016240	0016240	617598		C4539839		thyroid hormone receptor interactor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome 3"	None
Developmental and epileptic encephalopathy, 55	dee55//early infantile epileptic encephalopathy 55//eiee55//epileptic encephalopathy, early infantile, 55//glycosylphosphatidylinositol biosynthesis defect 14	PIGP	PIGP	https://raresource.nih.gov/literature/disease/0016241	0016241	617599		C4539843		phosphatidylinositol glycan anchor biosynthesis class P	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 55"	1
Polycystic kidney disease 5	dzip1l polycystic kidney disease//polycystic kidney disease caused by mutation in dzip1l	DZIP1L	DZIP1L	https://raresource.nih.gov/literature/disease/0016242	0016242	617610		C4539903		DAZ interacting zinc finger protein 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 5"	None
Joubert syndrome 30		ARMC9	ARMC9	https://raresource.nih.gov/literature/disease/0016243	0016243	617622		C4539937		armadillo repeat containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 30"	None
Blepharocheilodontic syndrome 2	bcds2//blepharo-cheilo-odontic syndrome caused by mutation in ctnnd1//ctnnd1 blepharo-cheilo-odontic syndrome	CTNND1	CTNND1	https://raresource.nih.gov/literature/disease/0016244	0016244	617681		C4540127		catenin delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharocheilodontic syndrome 2"	1
Spermatogenic failure 22		MEIOB	MEIOB	https://raresource.nih.gov/literature/disease/0016245	0016245	617706		C4540179		meiosis specific with OB-fold	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 22"	None
Spermatogenic failure 23		TEX14	TEX14	https://raresource.nih.gov/literature/disease/0016246	0016246	617707		C4540185		testis expressed 14, intercellular bridge forming factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 23"	None
Galloway-Mowat syndrome 3		OSGEP	OSGEP	https://raresource.nih.gov/literature/disease/0016247	0016247	617729		C4540266		O-sialoglycoprotein endopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 3"	None
Galloway-Mowat syndrome 4		TP53RK	TP53RK	https://raresource.nih.gov/literature/disease/0016248	0016248	617730		C4540270		TP53 regulating kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 4"	1
Galloway-Mowat syndrome 5		TPRKB	TPRKB	https://raresource.nih.gov/literature/disease/0016249	0016249	617731		C4540274		TP53RK binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 5"	None
Myopathy, centronuclear, 6, with fiber-type disproportion	centronuclear myopathy 6 with fiber-type disproportion	MAP3K20	MAP3K20	https://raresource.nih.gov/literature/disease/0016250	0016250	617760		C4540345		mitogen-activated protein kinase kinase kinase 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, centronuclear, 6, with fiber-type disproportion"	None
Joubert syndrome 31		CEP120	CEP120	https://raresource.nih.gov/literature/disease/0016251	0016251	617761		C4540355		centrosomal protein 120	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 31"	None
Retinitis pigmentosa 80	rp80	IFT140	IFT140	https://raresource.nih.gov/literature/disease/0016252	0016252	617781		C4540439		intraflagellar transport 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 80"	None
Microcephaly 19, primary, autosomal recessive		COPB2	COPB2	https://raresource.nih.gov/literature/disease/0016253	0016253	617800		C4540488		COPI coat complex subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 19, primary, autosomal recessive"	None
Coffin-Siris syndrome 6	arid2-related bafopathy	ARID2	ARID2	https://raresource.nih.gov/literature/disease/0016254	0016254	617808		C4540499		AT-rich interaction domain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 6"	1
Geleophysic dysplasia 3		LTBP3	LTBP3	https://raresource.nih.gov/literature/disease/0016255	0016255	617809		C4540511		latent transforming growth factor beta binding protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geleophysic dysplasia 3"	1
Ehlers-Danlos syndrome, arthrochalasia type, 2	eds 7b//eds viib//edsarth2//ehlers-danlos syndrome type 7b//ehlers-danlos syndrome, type viib, autosomal dominant	COL1A2	COL1A2	https://raresource.nih.gov/literature/disease/0016256	0016256	617821		CN293783	C565061	collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, arthrochalasia type, 2"	1
Glucocorticoid deficiency 5		TXNRD2	TXNRD2	https://raresource.nih.gov/literature/disease/0016257	0016257	617825		C4540522		thioredoxin reductase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid deficiency 5"	None
Developmental and epileptic encephalopathy 92	dee92//epileptic encephalopathy, infantile or early childhood, 2//iecee2	GABRB2	GABRB2	https://raresource.nih.gov/literature/disease/0016258	0016258	617829		C4693362		gamma-aminobutyric acid type A receptor subunit beta2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 92"	None
Developmental and epileptic encephalopathy, 58	dee58//eiee58//epileptic encephalopathy, early infantile, 58//infantile epileptic encephalopathy 58	NTRK2	NTRK2	https://raresource.nih.gov/literature/disease/0016259	0016259	617830		C4693367		neurotrophic receptor tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 58"	None
Intellectual disability, autosomal dominant 55, with seizures	intellectual developmental disorder, autosomal dominant 55, with seizures//mental retardation, autosomal dominant 55, with seizures	NUS1	NUS1	https://raresource.nih.gov/literature/disease/0016260	0016260	617831		C4693371		NUS1 dehydrodolichyl diphosphate synthase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 55, with seizures"	None
Developmental delay and seizures with or without movement abnormalities		DHDDS	DHDDS	https://raresource.nih.gov/literature/disease/0016261	0016261	617836		C4693376		dehydrodolichyl diphosphate synthase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay and seizures with or without movement abnormalities"	None
Amyotrophic lateral sclerosis type 23	als23	ANXA11	ANXA11	https://raresource.nih.gov/literature/disease/0016262	0016262	617839		C4693381		annexin A11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 23"	None
Fanconi anemia, complementation group S	fancs	BRCA1	BRCA1	https://raresource.nih.gov/literature/disease/0016264	0016264	617883		C4554406		BRCA1 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia, complementation group S"	None
Leukodystrophy, hypomyelinating, 14		UFM1	UFM1	https://raresource.nih.gov/literature/disease/0016266	0016266	617899		C4693535		ubiquitin fold modifier 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 14"	None
Microcephaly 20, primary, autosomal recessive		KIF14	KIF14	https://raresource.nih.gov/literature/disease/0016268	0016268	617914		C4693572		kinesin family member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 20, primary, autosomal recessive"	None
Developmental and epileptic encephalopathy, 60	dee60//eiee60//epileptic encephalopathy, early infantile, 60	CNPY3	CNPY3	https://raresource.nih.gov/literature/disease/0016270	0016270	617929		C4693663		canopy FGF signaling regulator 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 60"	None
Developmental and epileptic encephalopathy, 62	dee62//early infantile epileptic encephalopathy 62//eiee62//epileptic encephalopathy, early infantile, 62	SCN3A	SCN3A	https://raresource.nih.gov/literature/disease/0016271	0016271	617938		C4693699		sodium voltage-gated channel alpha subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 62"	None
Shwachman-Diamond syndrome 2		EFL1	EFL1	https://raresource.nih.gov/literature/disease/0016272	0016272	617941		C4693704		elongation factor like GTPase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shwachman-Diamond syndrome 2"	None
Elliptocytosis 3	anemia, neonatal hemolytic, fatal or near-fatal//el3	SPTB	SPTB	https://raresource.nih.gov/literature/disease/0016273	0016273	617948		C1866810	C566678	spectrin beta, erythrocytic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Elliptocytosis 3"	None
Spermatogenic failure 25		TEX15	TEX15	https://raresource.nih.gov/literature/disease/0016274	0016274	617960		C4693765		testis expressed 15, meiosis and synapsis associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 25"	None
Methemoglobinemia, alpha type		HBA1	HBA1	https://raresource.nih.gov/literature/disease/0016277	0016277	617973		C4693798		hemoglobin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methemoglobinemia, alpha type"	None
Microcephaly 21, primary, autosomal recessive		NCAPD2	NCAPD2	https://raresource.nih.gov/literature/disease/0016278	0016278	617983		C4693831		non-SMC condensin I complex subunit D2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 21, primary, autosomal recessive"	None
Microcephaly 22, primary, autosomal recessive		NCAPD3	NCAPD3	https://raresource.nih.gov/literature/disease/0016279	0016279	617984		C4693834		non-SMC condensin II complex subunit D3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 22, primary, autosomal recessive"	None
Microcephaly 23, primary, autosomal recessive		NCAPH	NCAPH	https://raresource.nih.gov/literature/disease/0016280	0016280	617985		C4693843		non-SMC condensin I complex subunit H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 23, primary, autosomal recessive"	None
Tumoral calcinosis, hyperphosphatemic, familial, 2		FGF23	FGF23	https://raresource.nih.gov/literature/disease/0016281	0016281	617993		C4693863		fibroblast growth factor 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tumoral calcinosis, hyperphosphatemic, familial, 2"	None
Tumoral calcinosis, hyperphosphatemic, familial, 3		KL	KL	https://raresource.nih.gov/literature/disease/0016282	0016282	617994		C4693864		klotho	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tumoral calcinosis, hyperphosphatemic, familial, 3"	None
Developmental and epileptic encephalopathy, 65	dee65//eiee65//epileptic encephalopathy, early infantile, 65	CYFIP2	CYFIP2	https://raresource.nih.gov/literature/disease/0016283	0016283	618008		C4693925		cytoplasmic FMR1 interacting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 65"	None
Hyperekplexia 4		ATAD1	ATAD1	https://raresource.nih.gov/literature/disease/0016284	0016284	618011		C4693933		ATPase family AAA domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperekplexia 4"	None
Developmental and epileptic encephalopathy 93	dee93//epileptic encephalopathy, infantile or early childhood, 3//iecee3	ATP6V1A	ATP6V1A	https://raresource.nih.gov/literature/disease/0016285	0016285	618012		C4693934		ATPase H+ transporting V1 subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 93"	1
Tetraamelia syndrome 2	tetraamelia syndrome 2 with pulmonary agenesis	RSPO2	RSPO2	https://raresource.nih.gov/literature/disease/0016286	0016286	618021		C4747923		R-spondin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetraamelia syndrome 2"	None
Coffin-Siris syndrome 7		DPF2	DPF2	https://raresource.nih.gov/literature/disease/0016287	0016287	618027		C4747954		double PHD fingers 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 7"	None
Ciliary dyskinesia, primary, 38	cild38//ciliary dyskinesia, primary, 38, with or without situs inversus	CFAP300	CFAP300	https://raresource.nih.gov/literature/disease/0016288	0016288	618063		C4748052		cilia and flagella associated protein 300	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 38"	None
Pontocerebellar hypoplasia, type 1D		EXOSC9	EXOSC9	https://raresource.nih.gov/literature/disease/0016289	0016289	618065		C4748058		exosome component 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 1D"	2
Spermatogenic failure 28		FANCM	FANCM	https://raresource.nih.gov/literature/disease/0016290	0016290	618086		C4748117		FA complementation group M	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 28"	None
Spermatogenic failure 30	spgf30	TDRD9	TDRD9	https://raresource.nih.gov/literature/disease/0016291	0016291	618110		C4748224		tudor domain containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 30"	None
Spermatogenic failure 32	spgf32	SOHLH1	SOHLH1	https://raresource.nih.gov/literature/disease/0016292	0016292	618115		C4748253		spermatogenesis and oogenesis specific basic helix-loop-helix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 32"	None
Polydactyly, postaxial, type A8		GLI1	GLI1	https://raresource.nih.gov/literature/disease/0016293	0016293	618123		C4748277		GLI family zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly, postaxial, type A8"	None
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	lgmd-pomgnt2 related myopathy//muscular dystrophy, limb-girdle, autosomal recessive 24//muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related	POMGNT2	POMGNT2	https://raresource.nih.gov/literature/disease/0016294	0016294			C4748320		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8"	None
Developmental and epileptic encephalopathy, 67	dee67//eiee67//epileptic encephalopathy, early infantile, 67	CUX2	CUX2	https://raresource.nih.gov/literature/disease/0016295	0016295	618141		C4748341		cut like homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 67"	1
Hennekam lymphangiectasia-lymphedema syndrome 3		ADAMTS3	ADAMTS3	https://raresource.nih.gov/literature/disease/0016296	0016296	618154		C4748408		ADAM metallopeptidase with thrombospondin type 1 motif 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hennekam lymphangiectasia-lymphedema syndrome 3"	1
Joubert syndrome 35		ARL3	ARL3	https://raresource.nih.gov/literature/disease/0016297	0016297	618161		C4748442		ARF like GTPase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 35"	None
Retinitis pigmentosa 83	rp83	ARL3	ARL3	https://raresource.nih.gov/literature/disease/0016298	0016298	618173		C4748536		ARF like GTPase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 83"	None
Nephrotic syndrome, type 17		NUP85	NUP85	https://raresource.nih.gov/literature/disease/0016299	0016299	618176		C4748545		nucleoporin 85	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 17"	None
Nephrotic syndrome, type 18		NUP133	NUP133	https://raresource.nih.gov/literature/disease/0016300	0016300	618177		C4748549		nucleoporin 133	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 18"	None
Nephrotic syndrome, type 19		NUP160	NUP160	https://raresource.nih.gov/literature/disease/0016301	0016301	618178		C4748552		nucleoporin 160	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 19"	None
Microcephaly 24, primary, autosomal recessive		NUP37	NUP37	https://raresource.nih.gov/literature/disease/0016302	0016302	618179		C4748555		nucleoporin 37	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 24, primary, autosomal recessive"	None
Periventricular nodular heterotopia 8		ARF1	ARF1	https://raresource.nih.gov/literature/disease/0016303	0016303	618185		C4748602		ARF GTPase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia 8"	None
Hyperparathyroidism, transient neonatal	hrpttn//transient neonatal hyperparathyroidism	TRPV6	TRPV6	https://raresource.nih.gov/literature/disease/0016304	0016304	618188		C1300287		transient receptor potential cation channel subfamily V member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperparathyroidism, transient neonatal"	7
Cardiomyopathy, dilated, 2c		PPCS	PPCS	https://raresource.nih.gov/literature/disease/0016305	0016305	618189		C4748647		phosphopantothenoylcysteine synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2c"	None
Intellectual developmental disorder and retinitis pigmentosa; IDDRP	intellectual developmental disorder and retinitis pigmentosa	SCAPER	SCAPER	https://raresource.nih.gov/literature/disease/0016306	0016306	618195		C4748658		S-phase cyclin A associated protein in the ER	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder and retinitis pigmentosa; IDDRP"	None
Capillary malformation-arteriovenous malformation 2	cmavm2	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0016307	0016307	618196		C4748670		EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Capillary malformation-arteriovenous malformation 2"	1
Myasthenic syndrome, congenital, 23, presynaptic		SLC25A1	SLC25A1	https://raresource.nih.gov/literature/disease/0016308	0016308	618197		C4748678		solute carrier family 25 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 23, presynaptic"	None
Myasthenic syndrome, congenital, 24, presynaptic		MYO9A	MYO9A	https://raresource.nih.gov/literature/disease/0016309	0016309	618198		C4748684		myosin IXA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 24, presynaptic"	None
Developmental and epileptic encephalopathy, 68	dee68//eiee68//epileptic encephalopathy, early infantile, 68	TRAK1	TRAK1	https://raresource.nih.gov/literature/disease/0016310	0016310	618201		C4748688		trafficking kinesin protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 68"	None
Retinitis pigmentosa 84	rp84	DHX38	DHX38	https://raresource.nih.gov/literature/disease/0016311	0016311	618220		C4748725		DEAH-box helicase 38	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 84"	None
Mitochondrial complex I deficiency, nuclear type 2	mitochondrial complex 1 deficiency, nuclear type 2	NDUFS8	NDUFS8	https://raresource.nih.gov/literature/disease/0016312	0016312	618222		C4748737		NADH:ubiquinone oxidoreductase core subunit S8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 2"	None
Mitochondrial complex I deficiency, nuclear type 3	mitochondrial complex 1 deficiency, nuclear type 3	NDUFS7	NDUFS7	https://raresource.nih.gov/literature/disease/0016313	0016313	618224		C4748752		NADH:ubiquinone oxidoreductase core subunit S7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 3"	None
Mitochondrial complex I deficiency, nuclear type 4	mitochondrial complex 1 deficiency, nuclear type 4	NDUFV1	NDUFV1	https://raresource.nih.gov/literature/disease/0016314	0016314	618225		C4748753		NADH:ubiquinone oxidoreductase core subunit V1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 4"	None
Mitochondrial complex I deficiency, nuclear type 5	mitochondrial complex 1 deficiency, nuclear type 5	NDUFS1	NDUFS1	https://raresource.nih.gov/literature/disease/0016315	0016315	618226		C4748754		NADH:ubiquinone oxidoreductase core subunit S1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 5"	None
Mitochondrial complex I deficiency, nuclear type 6	mitochondrial complex 1 deficiency, nuclear type 6	NDUFS2	NDUFS2	https://raresource.nih.gov/literature/disease/0016316	0016316	618228		C4748759		NADH:ubiquinone oxidoreductase core subunit S2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 6"	None
Mitochondrial complex I deficiency, nuclear type 7	mitochondrial complex 1 deficiency, nuclear type 7	NDUFV2	NDUFV2	https://raresource.nih.gov/literature/disease/0016317	0016317	618229		C4748760		NADH:ubiquinone oxidoreductase core subunit V2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 7"	None
Mitochondrial complex I deficiency, nuclear type 8	mitochondrial complex 1 deficiency, nuclear type 8	NDUFS3	NDUFS3	https://raresource.nih.gov/literature/disease/0016318	0016318	618230		C4748766		NADH:ubiquinone oxidoreductase core subunit S3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 8"	None
Mitochondrial complex I deficiency, nuclear type 9	mitochondrial complex 1 deficiency, nuclear type 9	NDUFS6	NDUFS6	https://raresource.nih.gov/literature/disease/0016319	0016319	618232		C4748767		NADH:ubiquinone oxidoreductase subunit S6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 9"	None
Mitochondrial complex I deficiency, nuclear type 10	mitochondrial complex 1 deficiency, nuclear type 10	NDUFAF2	NDUFAF2	https://raresource.nih.gov/literature/disease/0016320	0016320	618233		C4748768		NADH:ubiquinone oxidoreductase complex assembly factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 10"	None
Mitochondrial complex I deficiency, nuclear type 11	mitochondrial complex 1 deficiency, nuclear type 11	NDUFAF1	NDUFAF1	https://raresource.nih.gov/literature/disease/0016321	0016321	618234		C4748769		NADH:ubiquinone oxidoreductase complex assembly factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 11"	1
Mitochondrial complex I deficiency, nuclear type 14	mitochondrial complex 1 deficiency, nuclear type 14	NDUFA11	NDUFA11	https://raresource.nih.gov/literature/disease/0016322	0016322	618236		C4748777		NADH:ubiquinone oxidoreductase subunit A11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 14"	None
Mitochondrial complex I deficiency, nuclear type 15	mitochondrial complex 1 deficiency, nuclear type 15	NDUFAF4	NDUFAF4	https://raresource.nih.gov/literature/disease/0016323	0016323	618237		C4748778		NADH:ubiquinone oxidoreductase complex assembly factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 15"	None
Mitochondrial complex I deficiency, nuclear type 16	mitochondrial complex 1 deficiency, nuclear type 16	NDUFAF5	NDUFAF5	https://raresource.nih.gov/literature/disease/0016324	0016324	618238		C4748785		NADH:ubiquinone oxidoreductase complex assembly factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 16"	1
Mitochondrial complex I deficiency, nuclear type 18	mitochondrial complex 1 deficiency, nuclear type 18	NDUFAF3	NDUFAF3	https://raresource.nih.gov/literature/disease/0016325	0016325	618240		C4748790		NADH:ubiquinone oxidoreductase complex assembly factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 18"	None
Mitochondrial complex I deficiency, nuclear type 19	mitochondrial complex 1 deficiency, nuclear type 19	FOXRED1	FOXRED1	https://raresource.nih.gov/literature/disease/0016326	0016326	618241		C4748791		FAD dependent oxidoreductase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 19"	None
Mitochondrial complex I deficiency, nuclear type 21	mitochondrial complex 1 deficiency, nuclear type 21	NUBPL	NUBPL	https://raresource.nih.gov/literature/disease/0016327	0016327	618242		C4748792		NUBP iron-sulfur cluster assembly factor, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 21"	None
Mitochondrial complex I deficiency, nuclear type 24	mitochondrial complex 1 deficiency, nuclear type 24	NDUFB9	NDUFB9	https://raresource.nih.gov/literature/disease/0016328	0016328	618245		C4748803		NADH:ubiquinone oxidoreductase subunit B9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 24"	None
Mitochondrial complex I deficiency, nuclear type 25	mitochondrial complex 1 deficiency, nuclear type 25	NDUFB3	NDUFB3	https://raresource.nih.gov/literature/disease/0016329	0016329	618246		C4748806		NADH:ubiquinone oxidoreductase subunit B3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 25"	None
Mitochondrial complex I deficiency, nuclear type 29	mitochondrial complex 1 deficiency, nuclear type 29	TMEM126B	TMEM126B	https://raresource.nih.gov/literature/disease/0016330	0016330	618250		C4748830		transmembrane protein 126B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 29"	None
Mitochondrial complex I deficiency, nuclear type 31	mitochondrial complex 1 deficiency, nuclear type 31	TIMMDC1	TIMMDC1	https://raresource.nih.gov/literature/disease/0016331	0016331	618251		C4748838		translocase of inner mitochondrial membrane domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 31"	None
Mitochondrial complex I deficiency, nuclear type 33	mitochondrial complex 1 deficiency, nuclear type 33	NDUFA6	NDUFA6	https://raresource.nih.gov/literature/disease/0016332	0016332	618253		C4748840		NADH:ubiquinone oxidoreductase subunit A6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 33"	None
Mirror movements 4		NTN1	NTN1	https://raresource.nih.gov/literature/disease/0016333	0016333	618264		C4748869		netrin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mirror movements 4"	None
Hypotrichosis 14		LSS	LSS	https://raresource.nih.gov/literature/disease/0016335	0016335	618275		C4748930		lanosterol synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 14"	5
Developmental and epileptic encephalopathy, 70	dee70//eiee70//epileptic encephalopathy, early infantile, 70	PHACTR1	PHACTR1	https://raresource.nih.gov/literature/disease/0016336	0016336	618298		C4749023		phosphatase and actin regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 70"	2
Diamond-Blackfan anemia 18	dba18	RPL18	RPL18	https://raresource.nih.gov/literature/disease/0016338	0016338	618310		C5193020		ribosomal protein L18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 18"	None
Diamond-Blackfan anemia 19	dba19	RPL35	RPL35	https://raresource.nih.gov/literature/disease/0016339	0016339	618312		C5193021		ribosomal protein L35	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 19"	None
Diamond-Blackfan anemia 20	dba20	RPS15A	RPS15A	https://raresource.nih.gov/literature/disease/0016340	0016340	618313		C5193022		ribosomal protein S15a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 20"	None
Myasthenic syndrome, congenital, 25, presynaptic	myasthenic syndrome, congenital, 25	VAMP1	VAMP1	https://raresource.nih.gov/literature/disease/0016341	0016341	618323		C5193027		vesicle associated membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 25, presynaptic"	None
Retinitis pigmentosa 85	rp85	AHR	AHR	https://raresource.nih.gov/literature/disease/0016342	0016342	618345		C5193041		aryl hydrocarbon receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 85"	None
Galloway-Mowat syndrome 6		WDR4	WDR4	https://raresource.nih.gov/literature/disease/0016343	0016343	618347		C5193043		WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 6"	None
Galloway-Mowat syndrome 7		NUP107	NUP107	https://raresource.nih.gov/literature/disease/0016344	0016344	618348		C5193044		nucleoporin 107	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 7"	None
Galloway-Mowat syndrome 8		NUP133	NUP133	https://raresource.nih.gov/literature/disease/0016345	0016345	618349		C5193045		nucleoporin 133	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 8"	None
Microcephaly 25, primary, autosomal recessive		TRAPPC14	TRAPPC14	https://raresource.nih.gov/literature/disease/0016346	0016346	618351		C5193046		trafficking protein particle complex subunit 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 25, primary, autosomal recessive"	None
Coffin-Siris syndrome 8	smarcc2-related bafopathy	SMARCC2	SMARCC2	https://raresource.nih.gov/literature/disease/0016347	0016347	618362		C5193054		SWI/SNF related BAF chromatin remodeling complex subunit C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 8"	2
Spondyloepimetaphyseal dysplasia with joint laxity, type 3	semdjl3//semdjl3 - spondyloepimetaphyseal dysplasia with joint laxity type 3//spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type//spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type	EXOC6B	EXOC6B	https://raresource.nih.gov/literature/disease/0016348	0016348	618395	642085	C5193073		exocyst complex component 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia with joint laxity, type 3"	2
Developmental and epileptic encephalopathy, 74	dee74//eiee74//epileptic encephalopathy, early infantile, 74	GABRG2	GABRG2	https://raresource.nih.gov/literature/disease/0016349	0016349	618396		C5193074		gamma-aminobutyric acid type A receptor subunit gamma2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 74"	None
Cataract 48		DNMBP	DNMBP	https://raresource.nih.gov/literature/disease/0016350	0016350	618415		C5193082		dynamin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 48"	None
Arthrogryposis, distal, type 2B2	da2b2	TNNT3	TNNT3	https://raresource.nih.gov/literature/disease/0016351	0016351	618435		C5193097		troponin T3, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 2B2"	None
Developmental and epileptic encephalopathy, 75	dee75//eiee75//epileptic encephalopathy, early infantile, 75	PARS2	PARS2	https://raresource.nih.gov/literature/disease/0016352	0016352	618437		C5193099		prolyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 75"	1
Ciliary dyskinesia, primary, 41		GAS2L2	GAS2L2	https://raresource.nih.gov/literature/disease/0016353	0016353	618449		C5193103		growth arrest specific 2 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 41"	None
Developmental and epileptic encephalopathy, 76	dee76//developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination//eiee76//epileptic encephalopathy, early infantile, 76	ACTL6B	ACTL6B	https://raresource.nih.gov/literature/disease/0016355	0016355	618468		C5193113		actin like 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 76"	1
Noonan syndrome 11		MRAS	MRAS	https://raresource.nih.gov/literature/disease/0016357	0016357	618499		C5193130		muscle RAS oncogene homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 11"	None
Coffin-Siris syndrome 10	intellectual developmental disorder with speech delay and dysmorphic facies	SOX4	SOX4	https://raresource.nih.gov/literature/disease/0016358	0016358	618506		C4760583		SRY-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 10"	None
Leber congenital amaurosis 19		USP45	USP45	https://raresource.nih.gov/literature/disease/0016359	0016359	618513		C5193139		ubiquitin specific peptidase 45	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis 19"	None
Immunodeficiency 64	immunodeficiency 64 with lymphoproliferation	RASGRP1	RASGRP1	https://raresource.nih.gov/literature/disease/0016360	0016360	618534		C5231402		RAS guanyl releasing protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 64"	None
Ectodermal dysplasia 15, hypohidrotic/hair type		CST6	CST6	https://raresource.nih.gov/literature/disease/0016361	0016361	618535		C5193145		cystatin E/M	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 15, hypohidrotic/hair type"	None
Trichothiodystrophy 7, nonphotosensitive		TARS1	TARS1	https://raresource.nih.gov/literature/disease/0016362	0016362	618546		C5231403		threonyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 7, nonphotosensitive"	None
Developmental and epileptic encephalopathy, 77	dee77//eiee77//epileptic encephalopathy, early infantile, 77//glycosylphosphatidylinositol biosynthesis defect 19//multiple congenital anomalies-hypotonia-seizures syndrome 4	PIGQ	PIGQ	https://raresource.nih.gov/literature/disease/0016363	0016363	618548		C5231405		phosphatidylinositol glycan anchor biosynthesis class Q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 77"	None
Night blindness, congenital stationary, type1i	csnb1i	GUCY2D	GUCY2D	https://raresource.nih.gov/literature/disease/0016364	0016364	618555		C5231408		guanylate cyclase 2D, retinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Night blindness, congenital stationary, type1i"	None
Developmental and epileptic encephalopathy, 78	dee78//eiee78//epileptic encephalopathy, early infantile, 78	GABRA2	GABRA2	https://raresource.nih.gov/literature/disease/0016365	0016365	618557		C5231409		gamma-aminobutyric acid type A receptor subunit alpha2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 78"	1
Developmental and epileptic encephalopathy, 79	dee79//eiee79//epileptic encephalopathy, early infantile, 79	GABRA5	GABRA5	https://raresource.nih.gov/literature/disease/0016366	0016366	618559		C5231410		gamma-aminobutyric acid type A receptor subunit alpha5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 79"	None
Intellectual developmental disorder 60 with seizures	intellectual developmental disorder, autosomal dominant 60, with seizures//mental retardation, autosomal dominant 60, with seizures	AP2M1	AP2M1	https://raresource.nih.gov/literature/disease/0016367	0016367	618587		C5231497		adaptor related protein complex 2 subunit mu 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder 60 with seizures"	None
Retinitis pigmentosa 86		KIAA1549	KIAA1549	https://raresource.nih.gov/literature/disease/0016368	0016368	618613		C5231428		KIAA1549	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 86"	None
Noonan syndrome 12		RRAS2	RRAS2	https://raresource.nih.gov/literature/disease/0016369	0016369	618624		C5231432		RAS related 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 12"	None
Usher syndrome, type 1M		ESPN	ESPN	https://raresource.nih.gov/literature/disease/0016370	0016370	618632		C5231434		espin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome, type 1M"	None
Zimmermann-Laband syndrome 3	zls3	KCNN3	KCNN3	https://raresource.nih.gov/literature/disease/0016371	0016371	618658		C5231447		potassium calcium-activated channel subfamily N member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zimmermann-Laband syndrome 3"	2
Sitosterolemia 2	stsl2	ABCG5	ABCG5	https://raresource.nih.gov/literature/disease/0016372	0016372	618666		C5231453		ATP binding cassette subfamily G member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sitosterolemia 2"	1
Ciliary dyskinesia, primary, 42	ciliary dyskinesia, primary, 42, without situs inversus	MCIDAS	MCIDAS	https://raresource.nih.gov/literature/disease/0016373	0016373	618695		C5231464		multiciliate differentiation and DNA synthesis associated cell cycle protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 42"	None
Retinitis pigmentosa 87 with choroidal involvement		RPE65	RPE65	https://raresource.nih.gov/literature/disease/0016374	0016374	618697		C5231465		retinoid isomerohydrolase RPE65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 87 with choroidal involvement"	None
Neutropenia, severe congenital, 8, autosomal dominant	neutropenia, severe congenital, 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities//shwachman-diamond syndrome-like	SRP54	SRP54	https://raresource.nih.gov/literature/disease/0016375	0016375	618752	675767	C5203411		signal recognition particle 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutropenia, severe congenital, 8, autosomal dominant"	None
Joubert syndrome 36	jbts36	FAM149B1	FAM149B1	https://raresource.nih.gov/literature/disease/0016376	0016376	618763		C5231493		family with sequence similarity 149 member B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 36"	None
Mitochondrial complex III deficiency, nuclear type 10	mitochondrial complex 3 deficiency, nuclear type 10	UQCRFS1	UQCRFS1	https://raresource.nih.gov/literature/disease/0016377	0016377	618775		C5394051		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency, nuclear type 10"	None
Mitochondrial complex I deficiency, nuclear type 34	mitochondrial complex 1 deficiency, nuclear type 34	NDUFAF8	NDUFAF8	https://raresource.nih.gov/literature/disease/0016378	0016378	618776		C5394053		NADH:ubiquinone oxidoreductase complex assembly factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 34"	None
Coffin-Siris syndrome 11		SMARCD1	SMARCD1	https://raresource.nih.gov/literature/disease/0016379	0016379	618779		C5241442		SWI/SNF related BAF chromatin remodeling complex subunit D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 11"	1
Ciliary dyskinesia, primary, 44	ciliary dyskinesia, primary, 44, without situs inversus	NEK10	NEK10	https://raresource.nih.gov/literature/disease/0016380	0016380	618781		C5394063		NIMA related kinase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 44"	None
Imagawa-Matsumoto syndrome		SUZ12	SUZ12	https://raresource.nih.gov/literature/disease/0016381	0016381	618786	659463	C5394073		SUZ12 polycomb repressive complex 2 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Imagawa-Matsumoto syndrome"	5
Juvenile arthritis due to defect in LACC1	juvenile arthritis	LACC1	LACC1	https://raresource.nih.gov/literature/disease/0016382	0016382			CN263340		laccase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile arthritis due to defect in LACC1"	890
Ciliary dyskinesia, primary, 45	ciliary dyskinesia, primary, 45, without situs inversus	TTC12	TTC12	https://raresource.nih.gov/literature/disease/0016383	0016383	618801		C5394104		tetratricopeptide repeat domain 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 45"	None
Basal ganglia calcification, idiopathic, 8, autosomal recessive		JAM2	JAM2	https://raresource.nih.gov/literature/disease/0016384	0016384	618824		C5394199		junctional adhesion molecule 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 8, autosomal recessive"	None
Retinitis pigmentosa 88		RP1L1	RP1L1	https://raresource.nih.gov/literature/disease/0016385	0016385	618826		C5394208		RP1 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 88"	None
Alopecia-intellectual disability syndrome 4	alopecia-mental retardation syndrome 4//apmr4	LSS	LSS	https://raresource.nih.gov/literature/disease/0016386	0016386	618840		C5394241		lanosterol synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alopecia-intellectual disability syndrome 4"	4
Hypogonadotropic hypogonadism 25 with anosmia	hh25	NDNF	NDNF	https://raresource.nih.gov/literature/disease/0016387	0016387	618841		C5394246		neuron derived neurotrophic factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 25 with anosmia"	None
Diabetes mellitus, permanent neonatal 2	diabetes, permanent neonatal 2, with or without neurologic features//pndm2	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0016388	0016388	618856		C5394296		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, permanent neonatal 2"	None
Diabetes mellitus, permanent neonatal 3	diabetes mellitus, permanent neonatal 3, with or without neurologic features//pndm3	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0016389	0016389	618857		C5394303		ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, permanent neonatal 3"	None
Diabetes mellitus, permanent neonatal 4	pndm4	INS	INS	https://raresource.nih.gov/literature/disease/0016390	0016390	618858		C5394307		insulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, permanent neonatal 4"	None
Developmental and epileptic encephalopathy, 86	dee86//eiee86//epileptic encephalopathy, early infantile, 86	DALRD3	DALRD3	https://raresource.nih.gov/literature/disease/0016391	0016391	618910		C5394462		DALR anticodon binding domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 86"	None
Fanconi renotubular syndrome 5	fanconi renotubular syndrome, acadian variant//frts5	NDUFAF6	NDUFAF6	https://raresource.nih.gov/literature/disease/0016392	0016392	618913		C5394473		NADH:ubiquinone oxidoreductase complex assembly factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi renotubular syndrome 5"	None
Developmental and epileptic encephalopathy, 87	dee87//eiee87//epileptic encephalopathy, early infantile, 87	CDK19	CDK19	https://raresource.nih.gov/literature/disease/0016393	0016393	618916		C5394501		cyclin dependent kinase 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 87"	1
Periventricular nodular heterotopia 9	pvnh9	MAP1B	MAP1B	https://raresource.nih.gov/literature/disease/0016394	0016394	618918		C5394503		microtubule associated protein 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia 9"	1
Granulomatous disease, chronic, autosomal recessive, 5	cgd5//chronic granulomatous disease 5, autosomal recessive//granulomatous disease, chronic, due to cybc1 deficiency	CYBC1	CYBC1	https://raresource.nih.gov/literature/disease/0016395	0016395	618935		C5394542		cytochrome b-245 chaperone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatous disease, chronic, autosomal recessive, 5"	None
Treacher Collins syndrome 4	tcs4	POLR1B	POLR1B	https://raresource.nih.gov/literature/disease/0016396	0016396	618939		C5394546		RNA polymerase I subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher Collins syndrome 4"	1
Oculopharyngodistal myopathy 2	opdm2	GIPC1	GIPC1	https://raresource.nih.gov/literature/disease/0016397	0016397	618940		C5394548		GIPC PDZ domain containing family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngodistal myopathy 2"	3
Developmental and epileptic encephalopathy, 88	dee88//eiee88//epileptic encephalopathy, early infantile, 88	MDH1	MDH1	https://raresource.nih.gov/literature/disease/0016398	0016398	618959		C5394553		malate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 88"	None
Optic atrophy 12		AFG3L2	AFG3L2	https://raresource.nih.gov/literature/disease/0016399	0016399	618977		C5436534		AFG3 like matrix AAA peptidase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 12"	None
Hemophagocytic lymphohistiocytosis, familial, 6	immune dysregulation and systemic hyperinflammation syndrome	RC3H1	RC3H1	https://raresource.nih.gov/literature/disease/0016400	0016400	618998		C5436563		ring finger and CCCH-type domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemophagocytic lymphohistiocytosis, familial, 6"	None
Mitochondrial complex 1 deficiency, nuclear type 35	mitochondrial complex i deficiency, nuclear type 35	NDUFB10	NDUFB10	https://raresource.nih.gov/literature/disease/0016401	0016401	619003		C5436576		NADH:ubiquinone oxidoreductase subunit B10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex 1 deficiency, nuclear type 35"	None
IFAP syndrome 2	ichthyosis , follicular, with atrichia and photophobia syndrome 2//ichthyosis follicularis, atrichia, and photophobia syndrome 2//ifap2	SREBF1	SREBF1	https://raresource.nih.gov/literature/disease/0016402	0016402	619016		C5436607		sterol regulatory element binding transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IFAP syndrome 2"	2
Coenzyme q10 deficiency, primary, 9	coq10d9	COQ5	COQ5	https://raresource.nih.gov/literature/disease/0016403	0016403	619028		C5436638		coenzyme Q5, methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coenzyme q10 deficiency, primary, 9"	None
Mitochondrial complex IV deficiency, nuclear type 3	mc4dn3//mitochondrial complex 4 deficiency, nuclear type 3	COX10	COX10	https://raresource.nih.gov/literature/disease/0016404	0016404	619046		C5436682		cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 3"	None
Mitochondrial complex IV deficiency, nuclear type 4	mc4dn4//mitochondrial complex 4 deficiency, nuclear type 4	SCO1	SCO1	https://raresource.nih.gov/literature/disease/0016405	0016405	619048		C5436683		synthesis of cytochrome C oxidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 4"	1
Mitochondrial complex IV deficiency, nuclear type 7	mc4dn7//mitochondrial complex 4 deficiency, nuclear type 7	COX6B1	COX6B1	https://raresource.nih.gov/literature/disease/0016406	0016406	619051		C5436685		cytochrome c oxidase subunit 6B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 7"	None
Mitochondrial complex IV deficiency, nuclear type 8	mc4dn8//mitochondrial complex 4 deficiency, nuclear type 8	TACO1	TACO1	https://raresource.nih.gov/literature/disease/0016407	0016407	619052		C5436689		translational activator of cytochrome c oxidase I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 8"	None
Mitochondrial complex IV deficiency, nuclear type 10	mc4dn10//mitochondrial complex 4 deficiency, nuclear type 10	COX14	COX14	https://raresource.nih.gov/literature/disease/0016408	0016408	619053		C5436692		cytochrome c oxidase assembly factor COX14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 10"	None
Mitochondrial complex IV deficiency, nuclear type 11	mc4dn11//mitochondrial complex 4 deficiency, nuclear type 11	COX20	COX20	https://raresource.nih.gov/literature/disease/0016409	0016409	619054		C5436694		cytochrome c oxidase assembly factor COX20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 11"	None
Mitochondrial complex IV deficiency, nuclear type 12	mc4dn12//mitochondrial complex 4 deficiency, nuclear type 12	PET100	PET100	https://raresource.nih.gov/literature/disease/0016410	0016410	619055		C5436695		PET100 cytochrome c oxidase chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 12"	None
Mitochondrial complex IV deficiency, nuclear type 14	mc4dn14//mitochondrial complex 4 deficiency, nuclear type 14	COA3	COA3	https://raresource.nih.gov/literature/disease/0016411	0016411	619058		C5436710		cytochrome c oxidase assembly factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 14"	None
Mitochondrial complex IV deficiency, nuclear type 15	mc4dn15//mitochondrial complex 4 deficiency, nuclear type 15	COX8A	COX8A	https://raresource.nih.gov/literature/disease/0016412	0016412	619059		C5436712		cytochrome c oxidase subunit 8A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 15"	None
Mitochondrial complex IV deficiency, nuclear type 16	mc4dn16//mitochondrial complex 4 deficiency, nuclear type 16	COX4I1	COX4I1	https://raresource.nih.gov/literature/disease/0016413	0016413	619060		C5436714		cytochrome c oxidase subunit 4I1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 16"	None
Mitochondrial complex IV deficiency, nuclear type 17	mc4dn17//mitochondrial complex 4 deficiency, nuclear type 17	COA8	COA8	https://raresource.nih.gov/literature/disease/0016414	0016414			C5436718		cytochrome c oxidase assembly factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 17"	None
Mitochondrial complex IV deficiency, nuclear type 18	mc4dn18//mitochondrial complex 4 deficiency, nuclear type 18	COX6A2	COX6A2	https://raresource.nih.gov/literature/disease/0016415	0016415	619062		C5436720		cytochrome c oxidase subunit 6A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 18"	None
Mitochondrial complex IV deficiency, nuclear type 19	mc4dn19//mitochondrial complex 4 deficiency, nuclear type 19	PET117	PET117	https://raresource.nih.gov/literature/disease/0016416	0016416	619063		C5436723		PET117 cytochrome c oxidase chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 19"	None
Mitochondrial complex IV deficiency, nuclear type 20	mc4dn20//mitochondrial complex 4 deficiency, nuclear type 20	COX5A	COX5A	https://raresource.nih.gov/literature/disease/0016417	0016417	619064		C5436726		cytochrome c oxidase subunit 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 20"	None
Mitochondrial complex IV deficiency, nuclear type 21	mc4dn21//mitochondrial complex 4 deficiency, nuclear type 21	NDUFA4	NDUFA4	https://raresource.nih.gov/literature/disease/0016418	0016418	619065		C5436727		NDUFA4 mitochondrial complex associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 21"	1
Noonan syndrome 13	ns13	MAPK1	MAPK1	https://raresource.nih.gov/literature/disease/0016419	0016419	619087		C5436773		mitogen-activated protein kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 13"	1
Spermatogenic failure 48	spgf48	M1AP	M1AP	https://raresource.nih.gov/literature/disease/0016420	0016420	619108		C5436823		meiosis 1 associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 48"	None
Arthrogryposis, distal, type 1C	da1c	MYL11	MYL11	https://raresource.nih.gov/literature/disease/0016421	0016421	619110		C5436834		myosin light chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 1C"	None
COACH syndrome 2	cc2d2a coach syndrome 2//coach2	CC2D2A	CC2D2A	https://raresource.nih.gov/literature/disease/0016422	0016422	619111		C5436837		coiled-coil and C2 domain containing 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COACH syndrome 2"	None
COACH syndrome 3	coach3	RPGRIP1L	RPGRIP1L	https://raresource.nih.gov/literature/disease/0016423	0016423	619113		C5436841		RPGRIP1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COACH syndrome 3"	None
Developmental and epileptic encephalopathy 89	dee89	GAD1	GAD1	https://raresource.nih.gov/literature/disease/0016424	0016424	619124		C5436853		glutamate decarboxylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 89"	1
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	als26	TIA1	TIA1	https://raresource.nih.gov/literature/disease/0016425	0016425	619133		C5436882		TIA1 cytotoxic granule associated RNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	None
Ritscher-Schinzel syndrome 3	rtsc3	VPS35L	VPS35L	https://raresource.nih.gov/literature/disease/0016426	0016426	619135		C5436883		VPS35 endosomal protein sorting factor like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ritscher-Schinzel syndrome 3"	None
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	ftdals5	CCNF	CCNF	https://raresource.nih.gov/literature/disease/0016427	0016427	619141		C5436884		cyclin F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	None
Nephrotic syndrome, type 22	nphs22	NOS1AP	NOS1AP	https://raresource.nih.gov/literature/disease/0016428	0016428	619155		C5436909		nitric oxide synthase 1 adaptor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 22"	None
Mitochondrial complex 2 deficiency, nuclear type 2	mc2dn2//mitochondrial complex ii deficiency, nuclear type 2	SDHAF1	SDHAF1	https://raresource.nih.gov/literature/disease/0016429	0016429	619166		C5436933		succinate dehydrogenase complex assembly factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex 2 deficiency, nuclear type 2"	None
Mitochondrial complex 2 deficiency, nuclear type 3	mc2dn3//mitochondrial complex ii deficiency, nuclear type 3//sdhd-related nuclear type mitochondrial complex ii deficiency	SDHD	SDHD	https://raresource.nih.gov/literature/disease/0016430	0016430	619167		C5436934		succinate dehydrogenase complex subunit D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex 2 deficiency, nuclear type 3"	None
Mitochondrial complex I deficiency, nuclear type 36	mc1dn36//mitochondrial complex 1 deficiency, nuclear type 36	NDUFC2	NDUFC2	https://raresource.nih.gov/literature/disease/0016431	0016431	619170		C5436935		NADH:ubiquinone oxidoreductase subunit C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 36"	None
Microcephaly 26, primary, autosomal dominant	mcph26	LMNB1	LMNB1	https://raresource.nih.gov/literature/disease/0016432	0016432	619179		C5543048		lamin B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 26, primary, autosomal dominant"	None
Microcephaly 27, primary, autosomal dominant	mcph27	LMNB2	LMNB2	https://raresource.nih.gov/literature/disease/0016433	0016433	619180		C5543051		lamin B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 27, primary, autosomal dominant"	None
Joubert syndrome 37	jbts37	TOGARAM1	TOGARAM1	https://raresource.nih.gov/literature/disease/0016434	0016434	619185		C5543064		TOG array regulator of axonemal microtubules 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 37"	None
Nephrotic syndrome, type 23	nphs23	KIRREL1	KIRREL1	https://raresource.nih.gov/literature/disease/0016435	0016435	619201		C5543092		kirre like nephrin family adhesion molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 23"	None
Spermatogenic failure 52	spgf52	C14orf39	C14orf39	https://raresource.nih.gov/literature/disease/0016436	0016436	619202		C5543094		chromosome 14 open reading frame 39	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 52"	None
Olmsted syndrome 2	olms2//palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2	PERP	PERP	https://raresource.nih.gov/literature/disease/0016437	0016437	619208		C5543096		p53 apoptosis effector related to PMP22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Olmsted syndrome 2"	None
Mitochondrial complex 2 deficiency, nuclear type 4	mc2dn4//mitochondrial complex ii deficiency, nuclear type 4//sdhb-related nuclear type mitocondrial complex ii deficiency	SDHB	SDHB	https://raresource.nih.gov/literature/disease/0016438	0016438	619224		C5543176		succinate dehydrogenase complex iron sulfur subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex 2 deficiency, nuclear type 4"	None
Glanzmann thrombasthenia 2	bleeding disorder, platelet-type, 23//gt2	ITGB3	ITGB3	https://raresource.nih.gov/literature/disease/0016439	0016439	619267		C5543273		integrin subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glanzmann thrombasthenia 2"	2
Mitochondrial complex I deficiency, nuclear type 37	mc1dn37//mitochondrial complex 1 deficiency, nuclear type 37	NDUFA8	NDUFA8	https://raresource.nih.gov/literature/disease/0016440	0016440	619272		C5543281		NADH:ubiquinone oxidoreductase subunit A8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 37"	None
Pontocerebellar hypoplasia, type 1E	pch1e	SLC25A46	SLC25A46	https://raresource.nih.gov/literature/disease/0016441	0016441	619303		C5543328		solute carrier family 25 member 46	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 1E"	1
Pontocerebellar hypoplasia, type 1F	pch1f	EXOSC1	EXOSC1	https://raresource.nih.gov/literature/disease/0016442	0016442	619304		C5543331		exosome component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 1F"	2
Coffin-Siris syndrome 12	css12	BICRA	BICRA	https://raresource.nih.gov/literature/disease/0016443	0016443	619325		C5444111		BRD4 interacting chromatin remodeling complex associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome 12"	4
Bartsocas-Papas syndrome 2	popliteal pterygium syndrome, bartsocas-papas type 2	CHUK	CHUK	https://raresource.nih.gov/literature/disease/0016444	0016444	619339		C5543445		component of inhibitor of nuclear factor kappa B kinase complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartsocas-Papas syndrome 2"	None
Developmental and epileptic encephalopathy 96	dee96	NSF	NSF	https://raresource.nih.gov/literature/disease/0016445	0016445	619340		C5543446		N-ethylmaleimide sensitive factor, vesicle fusing ATPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 96"	None
Visceral myopathy 2		MYH11	MYH11	https://raresource.nih.gov/literature/disease/0016446	0016446	619350		C5543466		myosin heavy chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Visceral myopathy 2"	None
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	mmihs2	MYH11	MYH11	https://raresource.nih.gov/literature/disease/0016447	0016447	619351		C5543476		myosin heavy chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megacystis-microcolon-intestinal hypoperistalsis syndrome 2"	None
Mitochondrial complex IV deficiency, nuclear type 22		COX16	COX16	https://raresource.nih.gov/literature/disease/0016448	0016448	619355		C5543491		cytochrome c oxidase assembly factor COX16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 22"	None
Cone dystrophy 4	cod4//cone dystrophy caused by mutation in pde6c//cone dystrophy type 4//cone-rod dystrophy 4//pde6c cone dystrophy	PDE6C	PDE6C	https://raresource.nih.gov/literature/disease/0016449	0016449	613093		C2751308	C567758	phosphodiesterase 6C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone dystrophy 4"	None
Cowden syndrome 1	cowden disease caused by mutation in pten//cowden syndrome type 1//cws1//lhermitte-duclos syndrome//pten cowden disease	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0016450	0016450			CN072330		phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome 1"	11
Desbuquois dysplasia 1	cant1 desbuquois dysplasia//dbqd1//desbuquois dysplasia 1, kim variant//desbuquois dysplasia caused by mutation in cant1//desbuquois dysplasia type 1	CANT1	CANT1	https://raresource.nih.gov/literature/disease/0016451	0016451	251450		C4012146		calcium activated nucleotidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desbuquois dysplasia 1"	14
Xeroderma pigmentosum, group D	ercc2 xeroderma pigmentosum//ercc2-related xeroderma pigmentosum//xeroderma pigmentosum caused by mutation in ercc2//xeroderma pigmentosum group type d//xeroderma pigmentosum iv//xeroderma pigmentosum viii//xeroderma pigmentosum, complementation group d//xeroderma pigmentosum, complementation group type d//xp group d//xp group h//xp, group d//xp, group h//xp-d//xp4//xp8//xpd//xpdc//xph	ERCC2	ERCC2	https://raresource.nih.gov/literature/disease/0016452	0016452	278730		C0268138	C562591	ERCC excision repair 2, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum, group D"	121
Intellectual disability, autosomal dominant 3	autosomal dominant intellectual disability 3//autosomal dominant mental retardation 3//autosomal dominant non-syndromic intellectual disability caused by mutation in cdh15//cdh15 autosomal dominant non-syndromic intellectual disability//intellectual developmental disorder, autosomal dominant 3//intellectual disability, autosomal dominant type 3//mental retardation, autosomal dominant type 3//mrd3	CDH15	CDH15	https://raresource.nih.gov/literature/disease/0016454	0016454	612580		C2675488	C567241	cadherin 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 3"	None
Lymphatic malformation 3	gjc2 hereditary lymphedema//hereditary lymphedema caused by mutation in gjc2//lmphm3//lymphedema, hereditary, 1c//lymphedema, hereditary, type 1c	GJC2	GJC2	https://raresource.nih.gov/literature/disease/0016456	0016456			C4747646		gap junction protein gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 3"	None
Autosomal recessive congenital ichthyosis 8	arci8//autosomal recessive congenital ichthyosis type 8//ichthyosis, congenital, autosomal recessive type 8//ichthyosis, lamellar, 4//lamellar ichthyosis 4//lamellar ichthyosis, late-onset//late-onset lamellar ichthyosis	LIPN	LIPN	https://raresource.nih.gov/literature/disease/0016457	0016457	613943		C3553029		lipase family member N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive congenital ichthyosis 8"	None
Intellectual disability, autosomal dominant 2	autosomal dominant intellectual disability 2//autosomal dominant mental retardation 2//autosomal dominant non-syndromic intellectual disability caused by mutation in dock8//dock8 autosomal dominant non-syndromic intellectual disability//intellectual disability, autosomal dominant type 2//mental retardation, autosomal dominant type 2//mrd2	DOCK8	DOCK8	https://raresource.nih.gov/literature/disease/0016458	0016458	614113		C3279842		dedicator of cytokinesis 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 2"	None
Intellectual disability, autosomal dominant 9	autosomal dominant intellectual disability 9//autosomal dominant mental retardation 9//autosomal dominant non-syndromic intellectual disability caused by mutation in kif1a//intellectual disability, autosomal dominant type 9//kif1a autosomal dominant non-syndromic intellectual disability//mental retardation, autosomal dominant type 9//mrd9//nescav syndrome//nescavs	KIF1A	KIF1A	https://raresource.nih.gov/literature/disease/0016459	0016459	614255	662367	C5393830		kinesin family member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 9"	4
Intellectual disability, autosomal dominant 10	autosomal dominant intellectual disability 10//autosomal dominant mental retardation 10//autosomal dominant non-syndromic intellectual disability caused by mutation in cacng2//cacng2 autosomal dominant non-syndromic intellectual disability//intellectual disability, autosomal dominant type 10//mental retardation, autosomal dominant type 10//mrd10	CACNG2	CACNG2	https://raresource.nih.gov/literature/disease/0016460	0016460	614256		C3280284		calcium voltage-gated channel auxiliary subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 10"	None
Intellectual disability, autosomal dominant 11	autosomal dominant intellectual disability 11//autosomal dominant mental retardation 11//autosomal dominant non-syndromic intellectual disability caused by mutation in epb41l1//epb41l1 autosomal dominant non-syndromic intellectual disability//intellectual developmental disorder, autosomal dominant 11//intellectual disability, autosomal dominant type 11//mental retardation, autosomal dominant type 11//mrd11	EPB41L1	EPB41L1	https://raresource.nih.gov/literature/disease/0016461	0016461	614257		C3280285		erythrocyte membrane protein band 4.1 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 11"	None
Intellectual disability, autosomal dominant 13	autosomal dominant intellectual disability 13//autosomal dominant mental retardation 13//autosomal dominant non-syndromic intellectual disability caused by mutation in dync1h1//cdcbm13//cortical dysplasia, complex, with other brain malformations 13//dync1h1 autosomal dominant non-syndromic intellectual disability//intellectual disability, autosomal dominant 13, with neuronal migration defects//intellectual disability, autosomal dominant type 13//mental retardation, autosomal dominant 13, with neuronal migration defects//mental retardation, autosomal dominant type 13//mrd13	DYNC1H1	DYNC1H1	https://raresource.nih.gov/literature/disease/0016462	0016462	614563		C3281202		dynein cytoplasmic 1 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 13"	1
Cowden syndrome 4	cowden disease 4//cowden disease caused by mutation in klln//cowden syndrome type 4//cws4//klln cowden disease	KLLN	KLLN	https://raresource.nih.gov/literature/disease/0016463	0016463	615107		C3554517		killin, p53 regulated DNA replication inhibitor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome 4"	None
Cowden syndrome 5	cowden disease caused by mutation in pik3ca//cowden syndrome type 5//cws5//pik3ca cowden disease	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0016464	0016464	615108		C3554518		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome 5"	None
Cowden syndrome 6	akt1 cowden disease//cowden disease caused by mutation in akt1//cowden syndrome type 6//cws6	AKT1	AKT1	https://raresource.nih.gov/literature/disease/0016465	0016465	615109		C3554519		AKT serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome 6"	None
Desbuquois dysplasia 2	baratela-scott syndrome//dbqd2//desbuquois dysplasia caused by mutation in xylt1//desbuquois dysplasia type 2//xylt1 desbuquois dysplasia	XYLT1	XYLT1	https://raresource.nih.gov/literature/disease/0016466	0016466	615777		C4014294		xylosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desbuquois dysplasia 2"	10
Intellectual disability, autosomal dominant 24	autosomal dominant intellectual disability 24//autosomal dominant mental retardation 24//autosomal dominant non-syndromic intellectual disability caused by mutation in deaf1//deaf1 autosomal dominant non-syndromic intellectual disability//intellectual disability, autosomal dominant type 24//mental retardation, autosomal dominant type 24//mrd24//vsvs//vulto-van silfhout-de vries syndrome//vulto-van silfout-de vries syndrome	DEAF1	DEAF1	https://raresource.nih.gov/literature/disease/0016467	0016467	615828		C4014414		DEAF1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 24"	4
Lymphatic malformation 4	hereditary lymphedema caused by mutation in vegfc//lmphm4//lymphedema, hereditary, 1d//lymphedema, hereditary, id//lymphedema, hereditary, type 1d//vegfc hereditary lymphedema	VEGFC	VEGFC	https://raresource.nih.gov/literature/disease/0016468	0016468			C4747769		vascular endothelial growth factor C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 4"	None
Intellectual disability, autosomal dominant 38	autosomal dominant intellectual disability 38//autosomal dominant mental retardation 38//autosomal dominant non-syndromic intellectual disability caused by mutation in eef1a2//eef1a2 autosomal dominant non-syndromic intellectual disability//intellectual developmental disorder, autosomal dominant 38//intellectual disability, autosomal dominant type 38//mental retardation, autosomal dominant type 38//mrd38//prelds//psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	EEF1A2	https://raresource.nih.gov/literature/disease/0016469	0016469	616393		C4225343		eukaryotic translation elongation factor 1 alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 38"	None
Cowden syndrome 7	cowden disease caused by mutation in sec23b//cowden syndrome type 7//cws7//sec23b cowden disease	SEC23B	SEC23B	https://raresource.nih.gov/literature/disease/0016470	0016470	616858		C4225179		SEC23 homolog B, COPII coat complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome 7"	None
Ichthyosis, congenital, autosomal recessive 14		SULT2B1	SULT2B1	https://raresource.nih.gov/literature/disease/0016471	0016471	617571		C4539754		sulfotransferase family 2B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, congenital, autosomal recessive 14"	None
Intellectual disability, autosomal dominant 52	intellectual developmental disorder, autosomal dominant 52//mental retardation, autosomal dominant 52	ASH1L	ASH1L	https://raresource.nih.gov/literature/disease/0016472	0016472	617796		C4540478		ASH1 like histone lysine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 52"	None
Intellectual disability, autosomal dominant 53	intellectual developmental disorder, autosomal dominant 53//mental retardation, autosomal dominant 53	CAMK2A	CAMK2A	https://raresource.nih.gov/literature/disease/0016473	0016473	617798		C4540481		calcium/calmodulin dependent protein kinase II alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 53"	None
Intellectual disability, autosomal dominant 54	intellectual developmental disorder, autosomal dominant 54//mental retardation, autosomal dominant 54	CAMK2B	CAMK2B	https://raresource.nih.gov/literature/disease/0016474	0016474	617799		C4540484		calcium/calmodulin dependent protein kinase II beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 54"	None
Intellectual disability, autosomal recessive 63	intellectual developmental disorder, autosomal recessive 63//mental retardation, autosomal recessive 63	CAMK2A	CAMK2A	https://raresource.nih.gov/literature/disease/0016475	0016475	618095		C4748167		calcium/calmodulin dependent protein kinase II alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 63"	None
Intellectual disability, autosomal dominant 58	intellectual developmental disorder, autosomal dominant 58//mental retardation, autosomal dominant 58//mrd58	SET	SET	https://raresource.nih.gov/literature/disease/0016476	0016476	618106		C4748195		SET nuclear proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 58"	None
Global developmental delay with or without impaired intellectual development		CUX1	CUX1	https://raresource.nih.gov/literature/disease/0016477	0016477	618330		C5193032		cut like homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Global developmental delay with or without impaired intellectual development"	None
Intellectual developmental disorder, autosomal dominant 64	mental retardation, autosomal dominant 64//mrd64//znf292-related neurodevelopmental disorder	ZNF292	ZNF292	https://raresource.nih.gov/literature/disease/0016478	0016478	619188		C5543067		zinc finger protein 292	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 64"	None
Maternally-inherited progressive external ophthalmoplegia	maternally-inherited chronic progressive external ophthalmoplegia//maternally-inherited cpeo//mitochondrial dna-related progressive external ophthalmoplegia//mtdna-related progressive external ophthalmoplegia	MT-TL2;MT-TN;MT-TS1	MT-TL2;MT-TN;MT-TS1	https://raresource.nih.gov/literature/disease/0016479	0016479		663	CN924917		mitochondrially encoded tRNA-Leu (CUN) 2; mitochondrially encoded tRNA-Asn (AAU/C); mitochondrially encoded tRNA-Ser (UCN) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternally-inherited progressive external ophthalmoplegia"	None
Sorsby fundus dystrophy	fundus dystrophy, pseudoinflammatory, of sorsby//hemorrhagic macular dystrophy//macular dystrophy, hemorrhagic//pseudoinflammatory fundus dystrophy of sorsby//sfd//sorsby fundus dystrophy, lavia type//sorsby pseudoinflammatory fundus dystrophy//sorsby's fundus dystrophy	TIMP3	TIMP3	https://raresource.nih.gov/literature/disease/0016480	0016480	136900	59181	C1850938	C564992	TIMP metallopeptidase inhibitor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sorsby fundus dystrophy"	348
Methylmalonic acidemia due to transcobalamin receptor defect	cd320 methylmalonic acidemia//matr//methylmalonic acidemia caused by mutation in cd320//methylmalonic acidemia tcb1r type//methylmalonic acidemia, tcb1r type//methylmalonic acidemia, tcbir type//methylmalonic acidemia, tcblr type//methylmalonic aciduria due to transcobalamin receptor defect//methylmalonic aciduria, transient, due to transcobalamin receptor defect	CD320	CD320	https://raresource.nih.gov/literature/disease/0016481	0016481	613646	280183	C4749905		CD320 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic acidemia due to transcobalamin receptor defect"	None
Rieger anomaly	goniodysgenesis hypodontia//iridogoniodysgenesis with somatic anomalies//rieg//rieger syndrome//rieger's syndrome	PITX2;FOXC1	PITX2;FOXC1	https://raresource.nih.gov/literature/disease/0016482	0016482		91483	C0265341		paired like homeodomain 2; forkhead box C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rieger anomaly"	206
Infantile liver failure syndrome 3		RINT1	RINT1	https://raresource.nih.gov/literature/disease/0016483	0016483	618641		C5231437		RAD50 interactor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile liver failure syndrome 3"	1
Axenfeld anomaly		PITX2;FOXC1	PITX2;FOXC1	https://raresource.nih.gov/literature/disease/0016485	0016485		98978	C0266548		paired like homeodomain 2; forkhead box C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Axenfeld anomaly"	20
Autosomal dominant progressive external ophthalmoplegia	adpeo//adpeo - autosomal dominant progressive external ophthalmoplegia//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1//progressive external ophthalmoplegia, autosomal dominant	POLG2;POLG;RRM2B;TWNK;SLC25A4	POLG2;POLG;RRM2B;TWNK;SLC25A4	https://raresource.nih.gov/literature/disease/0016486	0016486		254892	C5231255	C563575	DNA polymerase gamma 2, accessory subunit; DNA polymerase gamma, catalytic subunit; ribonucleotide reductase regulatory TP53 inducible subunit M2B; twinkle mtDNA helicase; solute carrier family 25 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant progressive external ophthalmoplegia"	79
C3 glomerulonephritis	c3 glomerulopathy 3//complement-mediated membranoproliferative glomerulonephritis//nephropathy due to cfhr5 deficiency	CFHR5	CFHR5	https://raresource.nih.gov/literature/disease/0016487	0016487	614809	329931	C4055342		complement factor H related 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C3 glomerulonephritis"	226
Complement component 3 deficiency	c3 classic complement early component deficiency//c3 deficiency//c3 deficiency, autosomal recessive//classic complement early component deficiency caused by mutation in c3	C3	C3	https://raresource.nih.gov/literature/disease/0016489	0016489	613779	280133	C3151071	C565169	complement C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 3 deficiency"	147
Fetal akinesia deformation sequence 2	fads2//rapsn-related fetal akinesia deformation sequence	RAPSN	RAPSN	https://raresource.nih.gov/literature/disease/0016495	0016495	618388		C4760576		receptor associated protein of the synapse	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal akinesia deformation sequence 2"	None
Fetal akinesia deformation sequence 3	dok7-related fetal akinesia deformation sequence//fads3	DOK7	DOK7	https://raresource.nih.gov/literature/disease/0016496	0016496	618389		C4760599		docking protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal akinesia deformation sequence 3"	None
Fetal akinesia deformation sequence 4	fads4	NUP88	NUP88	https://raresource.nih.gov/literature/disease/0016497	0016497	618393		C4760578		nucleoporin 88	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal akinesia deformation sequence 4"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	progressive external ophthalmoplegia with mitochondrial dna deletions caused by mutation in slc25a4//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 2//progressive external ophthalmoplegia, autosomal dominant 2//slc25a4 progressive external ophthalmoplegia with mitochondrial dna deletions	SLC25A4	SLC25A4	https://raresource.nih.gov/literature/disease/0016498	0016498	609283		C1836460	C563750	solute carrier family 25 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	progressive external ophthalmoplegia with mitochondrial dna deletions caused by mutation in twnk//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 3//progressive external ophthalmoplegia, autosomal dominant 3//twnk progressive external ophthalmoplegia with mitochondrial dna deletions	TWNK	TWNK	https://raresource.nih.gov/literature/disease/0016499	0016499	609286		C1836439	C563747	twinkle mtDNA helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	polg2 progressive external ophthalmoplegia with mitochondrial dna deletions//progressive external ophthalmoplegia with mitochondrial dna deletions caused by mutation in polg2//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 4//progressive external ophthalmoplegia, autosomal dominant 4	POLG2	POLG2	https://raresource.nih.gov/literature/disease/0016500	0016500	610131		C1864668	C566437	DNA polymerase gamma 2, accessory subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	chronic progressive external ophthalmoplegia with multiple mtdna deletions//progressive external ophthalmoplegia with mitochondrial dna deletions caused by mutation in rrm2b//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 5//progressive external ophthalmoplegia, autosomal dominant 5//rrm2b progressive external ophthalmoplegia with mitochondrial dna deletions//rrm2b-related chronic progressive external ophthalmoplegia with multiple mtdna deletions	RRM2B	RRM2B	https://raresource.nih.gov/literature/disease/0016501	0016501	613077		C2751319	C567768	ribonucleotide reductase regulatory TP53 inducible subunit M2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5"	None
Otofaciocervical syndrome 1	eya1 otofaciocervical syndrome//otfcs//otofaciocervical syndrome caused by mutation in eya1	EYA1	EYA1	https://raresource.nih.gov/literature/disease/0016502	0016502			C3714941		EYA transcriptional coactivator and phosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otofaciocervical syndrome 1"	5
Otofaciocervical syndrome 2	otfcs2//otofaciocervical syndrome 2, with t-cell deficiency//otofaciocervical syndrome caused by mutation in pax1//otofaciocervical syndrome type 2//pax1 otofaciocervical syndrome	PAX1	PAX1	https://raresource.nih.gov/literature/disease/0016503	0016503	615560		C5442121		paired box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otofaciocervical syndrome 2"	11
Seizures, benign familial infantile, 2	bfis2//convulsions, benign familial infantile, 2//seizures, benign familial infantile, type 2	PRRT2	PRRT2	https://raresource.nih.gov/literature/disease/0016504	0016504	605751		C1853995	C565296	proline rich transmembrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures, benign familial infantile, 2"	None
Seizures, benign familial infantile, 5	benign familial infantile epilepsy caused by mutation in scn8a//bfis5//convulsions, benign familial infantile, 5//scn8a benign familial infantile epilepsy//seizures, benign familial infantile, 5; bfis5//seizures, benign familial infantile, type 5	SCN8A	SCN8A	https://raresource.nih.gov/literature/disease/0016506	0016506	617080		C4310728		sodium voltage-gated channel alpha subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures, benign familial infantile, 5"	None
Alzheimer disease 4	ad4//alzheimer disease risk factor (apoe genotype)//alzheimer disease type 4//alzheimer disease, familial4//alzheimer's disease 4//alzheimer's disease type 4//familial alzheimer disease, type 4//familial alzheimer's disease, type 4	PSEN2	PSEN2	https://raresource.nih.gov/literature/disease/0016511	0016511	606889		C1847200	C536596	presenilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzheimer disease 4"	2
Alzheimer disease 3	ad3//alzheimer disease 3, early onset//alzheimer disease familial 3//alzheimer disease type 3//alzheimer disease, familial, 3//alzheimer disease, protection against, due to apoe3-christchurch//alzheimer disease, type 3//alzheimer disease, type 3, with spastic paraparesis and apraxia//alzheimer disease, type 3, with spastic paraparesis and unusual plaques//alzheimer's disease 3//alzheimer's disease type 3//early-onset autosomal dominant alzheimer disease caused by mutation in psen1//familial alzheimer disease, type 3//familial alzheimer's disease, type 3//psen1 early-onset autosomal dominant alzheimer disease	PSEN1	PSEN1	https://raresource.nih.gov/literature/disease/0016513	0016513	607822		C1843013	C536598	presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzheimer disease 3"	9
Pituitary hormone deficiency, combined, 6	combined pituitary hormone deficiencies, genetic form caused by mutation in otx2//otx2 combined pituitary hormone deficiencies, genetic form//otx2-related combined pituitary hormone deficiency//pituitary hormone deficiency, combined, type 6	OTX2	OTX2	https://raresource.nih.gov/literature/disease/0016520	0016520	613986		C3151440		orthodenticle homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary hormone deficiency, combined, 6"	None
Seizures, benign familial infantile, 3	benign familial infantile epilepsy caused by mutation in scn2a//benign familial neonatal-infantile seizures//benign neonatal-infantile epilepsy//bfis3//bfnis//convulsions, benign familial infantile, 3//familial neonatal seizures//scn2a benign familial infantile epilepsy//seizures, benign familial infantile, type 3	SCN2A	SCN2A	https://raresource.nih.gov/literature/disease/0016521	0016521	607745	140927	C1843140		sodium voltage-gated channel alpha subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures, benign familial infantile, 3"	48
Erythrokeratodermia variabilis	congenital poikiloderma//darier-gottron disease//ekv//erythrokeratodermia figurata variabilis//erythrokeratodermia progressiva symmetrica//erythrokeratodermia variabilis et progressiva//erythrokeratodermia variabilis, mendes da costa type//ichthyosis, erythrokeratodermia variabilis//mendes da costa syndrome//progressive symmetric erythrokeratodermia//progressive symmetric erythrokeratodermia, gottron type	KDSR;GJB3;GJA1;GJB4	KDSR;GJB3;GJA1;GJB4	https://raresource.nih.gov/literature/disease/0016528	0016528		317	C0265961	C536154;D056266	3-ketodihydrosphingosine reductase; gap junction protein beta 3; gap junction protein alpha 1; gap junction protein beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis"	214
Classic Hodgkin lymphoma	chl//classic hodgkin disease//classical hodgkin lymphoma//classical hodgkin's lymphoma//familial hodgkin disease//hd - hodgkin's disease//hodgkin granuloma//hodgkin's disease (clinical)//hodgkin's granuloma//hodgkin's granuloma (clinical)//lymphoma, hodgkins//malignant hodgkin's lymphoma	KLHDC8B	KLHDC8B	https://raresource.nih.gov/literature/disease/0016529	0016529	236000	391	C0019829	D006689	kelch domain containing 8B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic Hodgkin lymphoma"	3319
Hypogonadotropic hypogonadism	central hypogonadism//gonadotrophin deficiency//gonadotropic deficiency//hypogonadism, hypogonadotropic//hypogonadotrophic hypogonadism//hypogonadotropic hypogonadism with or without anosmia//isolated hypogonadotropic hypogonadism//low gonadotropins (secondary hypogonadism)//nihh//normosmic congenital hypogonadotropic hypogonadism//normosmic idiopathic hypogonadotropic hypogonadism//secondary hypogonadism	FGF17;KISS1R;NSMF;NHLH2;CHD7;HS6ST1;GNRH1;FGFR1;SPRY4;TAC3;PROKR2;TACR3;WDR11;KISS1;PROK2;FGF8;GNRHR;DUSP6	FGF17;KISS1R;NSMF;NHLH2;CHD7;HS6ST1;GNRH1;FGFR1;SPRY4;TAC3;PROKR2;TACR3;WDR11;KISS1;PROK2;FGF8;GNRHR;DUSP6	https://raresource.nih.gov/literature/disease/0016533	0016533		432	C0271623		fibroblast growth factor 17; KISS1 receptor; NMDA receptor synaptonuclear signaling and neuronal migration factor; nescient helix-loop-helix 2; chromodomain helicase DNA binding protein 7; heparan sulfate 6-O-sulfotransferase 1; gonadotropin releasing hormone 1; fibroblast growth factor receptor 1; sprouty RTK signaling antagonist 4; tachykinin precursor 3; prokineticin receptor 2; tachykinin receptor 3; WD repeat domain 11; KiSS-1 metastasis suppressor; prokineticin 2; fibroblast growth factor 8; gonadotropin releasing hormone receptor; dual specificity phosphatase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism"	3463
Marfan syndrome	fbn1-related thoracic aortic aneurysms and aortic dissections//marfan syndrome type 1//marfan syndrome, classic//marfan syndrome, type 1//marfan syndrome, type i//marfan's disease//marfan's syndrome//mfs//mfs1	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0016535	0016535	154700	558	C0024796	D008382	fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marfan syndrome"	8373
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia		ELF4;BTK	ELF4;BTK	https://raresource.nih.gov/literature/disease/0016538	0016538		632	CN294184		E74 like ETS transcription factor 4; Bruton tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"	None
Hemolytic anemia due to glucophosphate isomerase deficiency	anemia, congenital, nonspherocytic hemolytic, 4//anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient//cnsha4//glucosephosphate isomerase deficiency//hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	GPI	GPI	https://raresource.nih.gov/literature/disease/0016541	0016541	613470	712	C3150730		glucose-6-phosphate isomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to glucophosphate isomerase deficiency"	24
Hereditary thrombophilia due to congenital protein S deficiency	autosomal recessive thrombophilia due to congenital protein s deficiency//hereditary protein s deficiency//severe hereditary thrombophilia due to congenital protein s deficiency	PROS1	PROS1	https://raresource.nih.gov/literature/disease/0016543	0016543		743	C2584611		protein S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombophilia due to congenital protein S deficiency"	73
Hereditary thrombophilia due to congenital protein C deficiency	autosomal recessive thrombophilia due to congenital protein c deficiency//autosomal recessive thrombophilia due to pc deficiency//hereditary protein c deficiency//hereditary thrombophilia due to pc deficiency//protein c deficiency//protein c deficiency disease//severe hereditary thrombophilia due to congenital protein c deficiency	PROC	PROC	https://raresource.nih.gov/literature/disease/0016544	0016544		745	C0598221	C535424;D020151	protein C, inactivator of coagulation factors Va and VIIIa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombophilia due to congenital protein C deficiency"	1234
Estrogen resistance syndrome	estrogen insensitivity//estrogen resistance	ESR1	ESR1	https://raresource.nih.gov/literature/disease/0016548	0016548	615363	785	C3809250		estrogen receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Estrogen resistance syndrome"	32
46,XY sex reversal 11	anorchia, familial//embryonic testicular regression syndrome//etrs//srxy11//testicular regression - embryonic//testicular regression syndrome//testicular regression, embryonic//trs//vanishing testes syndrome//vanishing testis//vanishing testis syndrome//xy gonadal agenesis syndrome	DHX37	DHX37	https://raresource.nih.gov/literature/disease/0016552	0016552	273250	983	C0266427	C537770	DEAH-box helicase 37	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 11"	657
Autosomal recessive amelia	amelia, posterior, with pelvic and pulmonary hypoplasia syndrome	TBX4	TBX4	https://raresource.nih.gov/literature/disease/0016554	0016554	601360		C1832432	C563338	T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive amelia"	None
Sheldon-Hall syndrome	arthrogryposis, distal, type 2b//da2b//distal arthrogryposis type 2b//freeman sheldon syndrome, variant//freeman-sheldon syndrome variant	TNNT3;TPM2;NALCN;MYH3;TNNI2	TNNT3;TPM2;NALCN;MYH3;TNNI2	https://raresource.nih.gov/literature/disease/0016556	0016556		1147	C1834523		troponin T3, fast skeletal type; tropomyosin 2; sodium leak channel, non-selective; myosin heavy chain 3; troponin I2, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sheldon-Hall syndrome"	40
X-linked progressive cerebellar ataxia	olivopontocerebellar atrophy, x-linked//opca, x-linked//spinocerebellar ataxia, x-linked 1//spinocerebellar ataxia, x-linked 1, x-linked recessive//spinocerebellar ataxia, x-linked type 1	ATP2B3	ATP2B3	https://raresource.nih.gov/literature/disease/0016558	0016558	302500	1175	C0796205	C563134	ATPase plasma membrane Ca2+ transporting 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked progressive cerebellar ataxia"	None
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency//mc5dn2//mitochondrial complex v (atp synthase) deficiency, tmem70 type//mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency//mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency//mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency//neonatal mitochondrial encephalocardiomyopathy due to atp synthase deficiency//nuclear-encoded atpase deficiency, tmem70-related//tmem70-related mitochondrial encephalo-cardio-myopathy	TMEM70	TMEM70	https://raresource.nih.gov/literature/disease/0016561	0016561	614052	1194	C3279699	C567528	transmembrane protein 70	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"	None
Atrial standstill	atrial arrest//atrial cardiomyopathy with heart block//silent atrium//sinus arrest	SCN5A;NPPA	SCN5A;NPPA	https://raresource.nih.gov/literature/disease/0016564	0016564		1344	C0541782	C563984	sodium voltage-gated channel alpha subunit 5; natriuretic peptide A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial standstill"	646
Chondrodysplasia-pseudohermaphroditism syndrome	chondrodysplasia pseudohermaphrodism syndrome//chondrodysplasia with disorder of sex development syndrome//chondrodysplasia-disorder of sex development syndrome//nivelon nivelon mabille syndrome//nivelon-nivelon-mabille syndrome//pseudohermaphrodism and chondrodysplasia	HHAT	HHAT	https://raresource.nih.gov/literature/disease/0016565	0016565	600092	1422	C1838654	C536123	hedgehog acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrodysplasia-pseudohermaphroditism syndrome"	3
Atrial septal defect 7	asd with or without atrioventricular conduction defects//atrial heart septal defect caused by mutation in nkx2-5//atrial heart septal defect type 7//atrial septal defect 7 with atrioventricular conduction defects//atrial septal defect 7 without atrioventricular conduction defects//atrial septal defect 7, with or without av conduction defects//atrial septal defect with atrioventricular conduction defects//atrial septal defect with atrioventricular conduction defects, somatic//atrial septal defect-atrioventricular conduction defects syndrome//nkx2-5 atrial heart septal defect	NKX2-5	NKX2-5	https://raresource.nih.gov/literature/disease/0016566	0016566	108900	1479	C3276096		NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 7"	None
Autosomal recessive Robinow syndrome	costovertebral segmentation defect with mesomelia//costovertebral segmentation defect-mesomelia syndrome//covesdem syndrome//robinow syndrome, autosomal recessive//robinow syndrome, autosomal recessive 1//ror2-related robinow syndrome//rrs//rrs1	ROR2	ROR2	https://raresource.nih.gov/literature/disease/0016568	0016568	268310	1507	C5399974	C535863	receptor tyrosine kinase like orphan receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Robinow syndrome"	50
Fatal infantile encephalocardiomyopathy	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency//fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency//fatal infantile cox deficiency//fatal infantile cytochrome c oxidase deficiency	COX15;SCO2;COA6;SCO1;COA5	COX15;SCO2;COA6;SCO1;COA5	https://raresource.nih.gov/literature/disease/0016569	0016569		1561	C4273730		cytochrome c oxidase assembly homolog COX15; synthesis of cytochrome C oxidase 2; cytochrome c oxidase assembly factor 6; synthesis of cytochrome C oxidase 1; cytochrome c oxidase assembly factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal infantile encephalocardiomyopathy"	3
Bilateral renal agenesis	renal agenesis, bilateral	ITGA8;GREB1L;FGF20;GFRA1;RET;WNT9B	ITGA8;GREB1L;FGF20;GFRA1;RET;WNT9B	https://raresource.nih.gov/literature/disease/0016579	0016579		1848	C1609433		integrin subunit alpha 8; GREB1 like retinoic acid receptor coactivator; fibroblast growth factor 20; GDNF family receptor alpha 1; ret proto-oncogene; Wnt family member 9B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral renal agenesis"	300
Hereditary gingival fibromatosis	autosomal dominant gingival fibromatosis//autosomal dominant gingival hyperplasia//hereditary fibrous enlargement of gingiva//hereditary gingival hyperplasia	REST;SOS1	REST;SOS1	https://raresource.nih.gov/literature/disease/0016582	0016582		2024	C0399440		RE1 silencing transcription factor; SOS Ras/Rac guanine nucleotide exchange factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary gingival fibromatosis"	193
Juvenile hyaline fibromatosis	hyalinosis, systemic juvenile//jhf//mesenchymal dysplasia//molluscum fibrosum//murray puretic drescher syndrome//murray-puretic-drescher syndrome//puretic syndrome//systemic hyalinosis	ANTXR2	ANTXR2	https://raresource.nih.gov/literature/disease/0016583	0016583		2028	C2745948	D057770	ANTXR cell adhesion molecule 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile hyaline fibromatosis"	255
46,XX ovotesticular disorder of sex development	46,xx ovotesticular dsd//ovotesticular differences of sex development//ovotesticular disorders of sex development//ovotesticular dsd	NR5A1;SOX9;SRY	NR5A1;SOX9;SRY	https://raresource.nih.gov/literature/disease/0016585	0016585		2138	C5679613	D050090	nuclear receptor subfamily 5 group A member 1; SRY-box transcription factor 9; sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX ovotesticular disorder of sex development"	106
Hypoparathyroidism - X-linked	familial isolated hypoparathyroidism due to agenesis of parathyroid gland//hypx//parathyroid glands, agenesis of//x-linked hypoparathyroidism	GCM2	GCM2	https://raresource.nih.gov/literature/disease/0016589	0016589	307700	2239	C0342344	C563238	glial cells missing transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoparathyroidism - X-linked"	6
Congenital short bowel syndrome	csbs	CLMP;FLNA	CLMP;FLNA	https://raresource.nih.gov/literature/disease/0016592	0016592		2301	C5441717		CXADR like membrane protein; filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital short bowel syndrome"	54
Multiple cutaneous and mucosal venous malformations	cutaneous and mucosal venous malformation//mucocutaneous venous malformations//multiple cutaneous and mucosal venous malformation//multiple venous malformation of skin and mucous membrane//vmcm	TEK	TEK	https://raresource.nih.gov/literature/disease/0016600	0016600	600195	2451	C1838437	C563977	TEK receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple cutaneous and mucosal venous malformations"	12
Megalencephaly	enlarged brain//large head//large skull//macrencephaly//macroencephaly//megalencephaly (disease)//skull enlargement	TBC1D7	TBC1D7	https://raresource.nih.gov/literature/disease/0016601	0016601		2477	C0221355	D058627	TBC1 domain family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly"	374
Microcephaly and chorioretinopathy 1	autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome//microcephaly and chorioretinopathy caused by mutation in tubgcp6//microcephaly and chorioretinopathy type 1//microcephaly and chorioretinopathy, autosomal recessive, 1//microcephaly and chorioretinopathy, autosomal recessive, type 1//pseudotoxoplasmosis syndrome//tubgcp6 microcephaly and chorioretinopathy	TUBGCP6	TUBGCP6	https://raresource.nih.gov/literature/disease/0016603	0016603	251270	2518	C3278481		tubulin gamma complex component 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly and chorioretinopathy 1"	None
Nonimmune chronic idiopathic neutropenia of adults	adult chronic idiopathic neutropenia//adult idiopathic neutropenia//neutropenia, nonimmune chronic idiopathic, of adults//ni-cina	GFI1	GFI1	https://raresource.nih.gov/literature/disease/0016605	0016605	607847	2688	C1842930	C564320	growth factor independent 1 transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nonimmune chronic idiopathic neutropenia of adults"	6
Young-onset Parkinson disease	early onset parkinson disease//early onset parkinson's disease//early-onset parkinson disease//yopd//young onset parkinson's disease	PARK7;PINK1;PODXL;DNAJC6;PRKN;VPS13C;SYNJ1	PARK7;PINK1;PODXL;DNAJC6;PRKN;VPS13C;SYNJ1	https://raresource.nih.gov/literature/disease/0016610	0016610		2828	C4275179		Parkinsonism associated deglycase; PTEN induced kinase 1; podocalyxin like; DnaJ heat shock protein family (Hsp40) member C6; parkin RBR E3 ubiquitin protein ligase; vacuolar protein sorting 13 homolog C; synaptojanin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Young-onset Parkinson disease"	96
Phosphoenolpyruvate carboxykinase (GTP) deficiency	pepck - phosphoenolpyruvate carboxykinase deficiency//pepck deficiency//phosphoenolpyruvate carboxykinase deficiency	PCK2;PCK1	PCK2;PCK1	https://raresource.nih.gov/literature/disease/0016613	0016613		2880	C0268194	C536654	phosphoenolpyruvate carboxykinase 2, mitochondrial; phosphoenolpyruvate carboxykinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoenolpyruvate carboxykinase (GTP) deficiency"	7
Blepharophimosis - intellectual disability syndrome, SBBYS type	blepharophimosis, intellectual disability syndrome, say-barber-biesecker-young-simpson type//blepharophimosis-intellectual deficit syndrome, say-barber/biesecker/young-simpson type//hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome//hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome//mental retardation unusual facies hypothyroidism//ohdo syndrome, say-barber-biesecker-young-simpson variant//ohdo syndrome, sbbys variant//say-barber-biesecker variant of ohdo syndrome//say-barber-biesecker-young-simpson syndrome//say-barber-biesecker-young-simpson variant of ohdo syndrome//sbbys variant of ohdo syndrome//sbbyss//sbbyss syndrome//young simpson syndrome//young-simpson syndrome	KAT6B	KAT6B	https://raresource.nih.gov/literature/disease/0016618	0016618	603736	3047	C1863557	C536717	lysine acetyltransferase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis - intellectual disability syndrome, SBBYS type"	46
Autosomal dominant Robinow syndrome	robinow syndrome, autosomal dominant//robinow syndrome, autosomal dominant type	FZD2;DVL1;DVL3;WNT5A	FZD2;DVL1;DVL3;WNT5A	https://raresource.nih.gov/literature/disease/0016620	0016620		3107	C5200540		frizzled class receptor 2; dishevelled segment polarity protein 1; dishevelled segment polarity protein 3; Wnt family member 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Robinow syndrome"	14
X-linked spasticity-intellectual disability-epilepsy syndrome		ARX	ARX	https://raresource.nih.gov/literature/disease/0016622	0016622		3175	C4510949		aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked spasticity-intellectual disability-epilepsy syndrome"	None
Idiopathic hypereosinophilic syndrome	hes//hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation//idiopathic hypereosinophilic syndrome (hes)	PDGFRA	PDGFRA	https://raresource.nih.gov/literature/disease/0016625	0016625	607685	3260	C0206141		platelet derived growth factor receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic hypereosinophilic syndrome"	1358
Interfrontal craniofaciosynostosis	isolated metopic craniosynostosis//isolated trigonocephaly//metopic craniosynostosis//non-syndromic metopic craniosynostosis//non-syndromic metopic suture synostosis//nonsyndromic trigonocephaly//trigonocephaly, isolated//trigonocephaly, nonsyndromic	FGFR1;FREM1	FGFR1;FREM1	https://raresource.nih.gov/literature/disease/0016626	0016626		3366	CN236409		fibroblast growth factor receptor 1; FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Interfrontal craniofaciosynostosis"	173
Persistent truncus arteriosus	common aorticopulmonary trunk//common aortopulmonary trunk//common arterial trunk//common arterial trunk (truncus arteriosus)//common truncus arteriosus//persistent truncus arteriosus (disease)//tac//truncus arteriosus//truncus arteriosus communis	TBX1;PLXND1	TBX1;PLXND1	https://raresource.nih.gov/literature/disease/0016627	0016627		3384	C0041207	D014339	T-box transcription factor 1; plexin D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Persistent truncus arteriosus"	1955
Neurohypophyseal diabetes insipidus	adh deficiency//antidiuretic hormone deficiency//avp deficiency//diabetes insipidus of pituitary gland//diabetes insipidus, neurogenic//diabetes insipidus, primary central//familial arginine vasopressin deficiency//familial avp-d (arginine vasopressin deficiency)//familial central diabetes insipidus//familial vasopressin deficiency//hereditary arginine vasopressin deficiency//hereditary cdi//hereditary central diabetes insipidus//hereditary neurogenic diabetes insipidus//pituitary gland diabetes insipidus//vasopressin defective diabetes insipidus	AVP	AVP	https://raresource.nih.gov/literature/disease/0016629	0016629		30925	C0342394		arginine vasopressin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurohypophyseal diabetes insipidus"	200
Neuroectodermal melanolysosomal disease	elejalde disease//elejalde neuroectodermal melanolysosomal syndrome	MYO5A	MYO5A	https://raresource.nih.gov/literature/disease/0016630	0016630	256710	33445	C1860157	C536203	myosin VA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuroectodermal melanolysosomal disease"	9
Gamma-glutamylcysteine synthetase deficiency	anemia, congenital, nonspherocytic hemolytic, 7//cnsha7//gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to//gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to//glutamate-cysteine ligase deficiency//hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency//hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency//inborn error of glutamate-cysteine ligase activity//inborn glutamate-cysteine ligase activity disorder//rare inborn error of glutamate-cysteine ligase activity	GCLC	GCLC	https://raresource.nih.gov/literature/disease/0016631	0016631	230450	33574	C1856603	C565557	glutamate-cysteine ligase catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gamma-glutamylcysteine synthetase deficiency"	9
T-B+ severe combined immunodeficiency due to JAK3 deficiency	scid, autosomal recessive, t-negative/b-positive type//scid, t cell-negative, b cell-positive, nk cell-negative//severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency//t-b+ scid due to jak3 deficiency//t-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency	JAK3	JAK3	https://raresource.nih.gov/literature/disease/0016632	0016632	600802	35078	C1833275	C563440	Janus kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-B+ severe combined immunodeficiency due to JAK3 deficiency"	None
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	anemia, congenital, nonspherocytic hemolytic, 8//anemia, hemolytic, due to umph1 deficiency//cnsha8//hemolytic anemia due to p5n deficiency//hemolytic anemia due to umph1 deficiency//p5n deficiency//pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to//pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to//umph1 deficiency//uridine 5'-monophosphate hydrolase deficiency//uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to//uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to	NT5C3A	NT5C3A	https://raresource.nih.gov/literature/disease/0016635	0016635	266120	35120	C1849507	C564859	5'-nucleotidase, cytosolic IIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	12
Acid phosphatase deficiency	lysosomal acid phosphatase deficiency	ACP2	ACP2	https://raresource.nih.gov/literature/disease/0016636	0016636	200950	35121	C0268410	C562645	acid phosphatase 2, lysosomal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acid phosphatase deficiency"	5
Nanophthalmia	nanophthalmos	ALDH1A3;OTX2;SOX2;PRSS56;TMEM98;RAX;BEST1;CRB1;MFRP	ALDH1A3;OTX2;SOX2;PRSS56;TMEM98;RAX;BEST1;CRB1;MFRP	https://raresource.nih.gov/literature/disease/0016637	0016637		35612	C4274282		aldehyde dehydrogenase 1 family member A3; orthodenticle homeobox 2; SRY-box transcription factor 2; serine protease 56; transmembrane protein 98; retina and anterior neural fold homeobox; bestrophin 1; crumbs cell polarity complex component 1; membrane frizzled-related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nanophthalmia"	290
ALDH18A1-related de Barsy syndrome	aldehyde dehydrogenase 18 family member a1-related de barsy syndrome//aldh18a1-related cutis laxa//arcl3a//autosomal recessive cutis laxa type iiia//cutis laxa, autosomal recessive iiia//de barsy syndrome a//delta-1-pyrroline 5-carboxylate synthetase deficiency//neurocutaneous syndrome bicknell type//neurocutaneous syndrome, bicknell type	ALDH18A1	ALDH18A1	https://raresource.nih.gov/literature/disease/0016638	0016638	219150	35664	C5234852		aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALDH18A1-related de Barsy syndrome"	3
Combined deficiency of factor V and factor VIII	combined deficiency of factor v and factor type viii//f5f8d//factor v and factor viii combined deficiency//familial multiple coagulation factor deficiency//fv and fviii combined deficiency	MCFD2;LMAN1	MCFD2;LMAN1	https://raresource.nih.gov/literature/disease/0016639	0016639		35909	C1856883		multiple coagulation factor deficiency 2, ER cargo receptor complex subunit; lectin, mannose binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined deficiency of factor V and factor VIII"	55
Episodic ataxia type 1	acetazolamide-responsive periodic ataxia//ataxia, episodic, with myokymia//continuous muscle fiber activity//ea1//episodic ataxia type 1 (ea1)//episodic ataxia with myokymia//episodic ataxia/myokymia syndrome//familial paroxysmal kinesigenic ataxia and continuous myokymia//hereditary episodic ataxia caused by mutation in kcna1//hereditary paroxysmal ataxia with neuromyotonia//isaacs-mertens syndrome//kcna1 hereditary episodic ataxia//myokymia with episodic ataxia//myokymia with periodic ataxia//paroxysmal ataxia with neuromyotonia, hereditary	KCNA1	KCNA1	https://raresource.nih.gov/literature/disease/0016641	0016641	160120	37612	C1719788		potassium voltage-gated channel subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic ataxia type 1"	136
Graft versus host disease	disease, graft-versus-host//disease, graft-vs-host//diseases, graft-versus-host//diseases, graft-vs-host//graft vs host disease//graft vs. host disease//graft-vs-host disease//gvh//gvhd//gvhd - graft-versus-host disease//late acute graft versus host disease//runt disease	IL10	IL10	https://raresource.nih.gov/literature/disease/0016642	0016642	614395	39812	C0018133	D006086	interleukin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Graft versus host disease"	25017
Hereditary myopathy with lactic acidosis due to ISCU deficiency	aconitase deficiency//hereditary myopathy with lactic acidosis//hml//iron-sulfur cluster deficiency myopathy//iscu myopathy//myoglobinuria due to abnormal glycolysis//myopathy with deficiency of iron-sulfur cluster assembly enzyme//myopathy with deficiency of iron-sulphur cluster assembly enzyme//myopathy with deficiency of succinate dehydrogenase and aconitase//myopathy with exercise intolerance, swedish type//myopathy with lactic acidosis, hereditary	ISCU	ISCU	https://raresource.nih.gov/literature/disease/0016643	0016643	255125	43115	C1850718	C564972	iron-sulfur cluster assembly enzyme	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary myopathy with lactic acidosis due to ISCU deficiency"	31
Congenital cataracts-facial dysmorphism-neuropathy syndrome	cataract, congenital, with facial dysmorphism and neuropathy//ccfdn//ccfdn - congenital cataracts, facial dysmorphism and neuropathy//congenital cataracts, facial dysmorphism and neuropathy//congenital cataracts, facial dysmorphism, and neuropathy	CTDP1	CTDP1	https://raresource.nih.gov/literature/disease/0016645	0016645	604168	48431	C1858726	C565822	CTD phosphatase subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cataracts-facial dysmorphism-neuropathy syndrome"	21
Craniolenticulosutural dysplasia	boyadjiev jabs syndrome//boyadjiev-jabs syndrome//clsd//cranio-lenticulo-sutural dysplasia, clsd	SEC23A	SEC23A	https://raresource.nih.gov/literature/disease/0016647	0016647	607812	50814	C1843042	C564332	SEC23 homolog A, COPII coat complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniolenticulosutural dysplasia"	12
Schöpf-Schulz-Passarge syndrome	eccrine tumors with ectodermal dysplasia//eccrine tumors-ectodermal dysplasia//keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis//keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome//palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome//palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome//schc6pf-schulz-passarge syndrome//ssps	WNT10A	WNT10A	https://raresource.nih.gov/literature/disease/0016649	0016649	224750	50944	C1857069	C565607	Wnt family member 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schöpf-Schulz-Passarge syndrome"	99
Short QT syndrome	familial short qt syndrome//genetic short qt syndrome//sqts//ventricular arrhythmia associated with short qt syndrome	CACNA2D1;KCNH2;KCNJ2;KCNQ1;SLC4A3	CACNA2D1;KCNH2;KCNJ2;KCNQ1;SLC4A3	https://raresource.nih.gov/literature/disease/0016650	0016650		51083	C2348199	C580439	calcium voltage-gated channel auxiliary subunit alpha2delta 1; potassium voltage-gated channel subfamily H member 2; potassium inwardly rectifying channel subfamily J member 2; potassium voltage-gated channel subfamily Q member 1; solute carrier family 4 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short QT syndrome"	454
Retinitis punctata albescens	rpa	RLBP1;PRPH2	RLBP1;PRPH2	https://raresource.nih.gov/literature/disease/0016655	0016655		52427	C1405854		retinaldehyde binding protein 1; peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis punctata albescens"	225
Dystonia 9	choreoathetosis, kinesigenic, with episodic ataxia and spasticity//dystonia type 9//dyt9//episodic choreoathetosis/spasticity//paroxysmal dystonic choreathetosis with episodic ataxia and spasticity//paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity	SLC2A1	SLC2A1	https://raresource.nih.gov/literature/disease/0016656	0016656	601042	53583	C1832855	C563401	solute carrier family 2 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 9"	2
Cornea plana	congenital cornea plana//cornea flattened//flat cornea	KERA	KERA	https://raresource.nih.gov/literature/disease/0016657	0016657		53691	C0344529		keratocan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornea plana"	51
Lethal arthrogryposis-anterior horn cell disease syndrome	aahd//arthrogryposis-anterior horn cell disease syndrome//caahd//congenital arthrogryposis with anterior horn cell disease//laahd//vuopala disease	GLE1	GLE1	https://raresource.nih.gov/literature/disease/0016658	0016658	611890	53696	C5193016	C567502	GLE1 RNA export mediator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal arthrogryposis-anterior horn cell disease syndrome"	5
Parietal foramina	caitlin marks//catlin marks//enlarged parietal foramina//fenestrae parietales symmetricae//foramina parietalia permagna//hereditary cranium bifidum//holes in parietal bones//openings in parietal bones//persistent foramina of the parietal bones//symmetric parietal foramina//symmetrical, oval defects in the parietal bone//symmetrical, oval parietal bone defects	MSX2;ALX4	MSX2;ALX4	https://raresource.nih.gov/literature/disease/0016662	0016662		60015	CN002451	C566826	msh homeobox 2; ALX homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parietal foramina"	71
Idiopathic bronchiectasis		SCNN1A;SCNN1B;SCNN1G	SCNN1A;SCNN1B;SCNN1G	https://raresource.nih.gov/literature/disease/0016664	0016664		60033	C0339985		sodium channel epithelial 1 subunit alpha; sodium channel epithelial 1 subunit beta; sodium channel epithelial 1 subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic bronchiectasis"	94
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	abs1//ambiguous genitalia-disordered steroidogenesis antley-bixler syndrome//antley-bixler syndrome with genital anomaly and disorder of steroidogenesis//cytochrome p450 oxidoreductase deficiency//por deficiency	POR	POR	https://raresource.nih.gov/literature/disease/0016665	0016665	201750	63269	C3150099		cytochrome p450 oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	68
Distal myopathy with posterior leg and anterior hand involvement	distal abd-filaminopathy//myopathy, distal, type 4//williams distal myopathy	FLNC	FLNC	https://raresource.nih.gov/literature/disease/0016666	0016666	614065	63273	C3279722		filamin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal myopathy with posterior leg and anterior hand involvement"	None
Ovarian hyperstimulation syndrome	ohss//ovarian hyperstimulation syndrome, familial gestational spontaneous//secondary meig's syndrome	FSHR	FSHR	https://raresource.nih.gov/literature/disease/0016668	0016668	608115	64739	C0085083	D016471	follicle stimulating hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian hyperstimulation syndrome"	3529
Deficiency of beta-ureidopropionase	beta-alanine synthase deficiency//beta-ureidopropionase deficiency//upb1d	UPB1	UPB1	https://raresource.nih.gov/literature/disease/0016669	0016669	613161	65287	C1291512	C563210	beta-ureidopropionase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of beta-ureidopropionase"	14
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	pancreatic and cerebellar agenesis	PTF1A	PTF1A	https://raresource.nih.gov/literature/disease/0016670	0016670	609069	65288	C1836780	C563796	pancreas associated transcription factor 1a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	5
Diaphanospondylodysostosis	vertebral ossification, defect in, with nephrogenic rests	BMPER	BMPER	https://raresource.nih.gov/literature/disease/0016674	0016674	608022	66637	C1842691	C564305	BMP binding endothelial regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diaphanospondylodysostosis"	15
Deficiency of hyaluronoglucosaminidase	deficiency of hyaluronidase//hyaluronidase deficiency//mps ix//mps9//mpsix//mucopolysaccharidosis type 9//mucopolysaccharidosis type ix	HYAL1	HYAL1	https://raresource.nih.gov/literature/disease/0016675	0016675	601492	67041	C1291490	C563209	hyaluronidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of hyaluronoglucosaminidase"	14
Thrombocytopenia with congenital dyserythropoietic anemia	congenital dyserythropoietic anaemia with thombocytopenia//congenital dyserythropoietic anemia with thombocytopenia//x-linked congenital dyserythropoietic anaemia with thrombocytopenia//x-linked congenital dyserythropoietic anemia with thrombocytopenia//xdat	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0016676	0016676		67044	C4302508		GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia with congenital dyserythropoietic anemia"	None
X-linked intellectual disability with isolated growth hormone deficiency	mrgh	SOX3	SOX3	https://raresource.nih.gov/literature/disease/0016677	0016677		67045	C1848068		SRY-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability with isolated growth hormone deficiency"	None
Pure hair and nail ectodermal dysplasia	hair-nail ectodermal dysplasia//hned//phned	KRT85;HOXC13;KRT74	KRT85;HOXC13;KRT74	https://raresource.nih.gov/literature/disease/0016680	0016680		69084	C5979821		keratin 85; homeobox C13; keratin 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pure hair and nail ectodermal dysplasia"	12
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	ol-eda-id//ol-eda-id (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0016681	0016681		69088	C4303737	C564538	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"	3
Low phospholipid associated cholelithiasis	abcb4 gene mutation-associated cholelithiasis//abcb4-related cholelithiasis//cholelithiasis with abcb4 gene mutation//cholelithiasis, low phospholipid-associated//gallbladder disease 1//gallbladder disease type 1//gallstone cholecystitis//gbd1//lpac	ABCB4	ABCB4	https://raresource.nih.gov/literature/disease/0016683	0016683	600803	69663	C2609268		ATP binding cassette subfamily B member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Low phospholipid associated cholelithiasis"	66
Bosley-Salih-Alorainy syndrome	bsas	HOXA1	HOXA1	https://raresource.nih.gov/literature/disease/0016684	0016684		69737	C1832216		homeobox A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bosley-Salih-Alorainy syndrome"	8
Split hand-foot malformation 1 with sensorineural hearing loss	congenital deafness with split hands and feet//deafness, congenital, with split hands and feet//shfm1d//split hand, split foot malformation with sensorineural hearing loss syndrome//split hand-split foot-deafness syndrome//split hand-split foot-hearing loss syndrome//split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	DLX5	DLX5	https://raresource.nih.gov/literature/disease/0016686	0016686	220600	71271	C1857344	C565647	distal-less homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Split hand-foot malformation 1 with sensorineural hearing loss"	1
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	atrus syndrome//radioulnar synostosis with amegakaryocytic thrombocytopenia	MECOM;HOXA11	MECOM;HOXA11	https://raresource.nih.gov/literature/disease/0016687	0016687		71289	C1854273	C565328	MDS1 and EVI1 complex locus; homeobox A11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"	2
Familial thrombocytosis	familial thrombocythemia//hereditary thrombocythemia//hereditary thrombocytosis//hereditary thrombocytosis disease//thcyt	THPO;JAK2;MPL	THPO;JAK2;MPL	https://raresource.nih.gov/literature/disease/0016688	0016688		71493	C4303761		thrombopoietin; Janus kinase 2; MPL proto-oncogene, thrombopoietin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial thrombocytosis"	75
Obesity due to prohormone convertase I deficiency	obesity and endocrinopathy due to impaired processing of prohormones//obesity with impaired prohormone processing//pci deficiency//pcsk1 deficiency//proprotein convertase-1 deficiency	PCSK1	PCSK1	https://raresource.nih.gov/literature/disease/0016689	0016689	600955	71528	C1833053	C563423	proprotein convertase subtilisin/kexin type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to prohormone convertase I deficiency"	7
Obesity due to melanocortin 4 receptor deficiency	mc4r deficiency	MC4R	MC4R	https://raresource.nih.gov/literature/disease/0016690	0016690		71529	C4273958		melanocortin 4 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to melanocortin 4 receptor deficiency"	50
Retinal arterial tortuosity	familial isolated retinal arterial tortuosity//retinal arterial tortuosity (disease)//retinal arteries, tortuosity of//retinal arteriolar tortuosity//retinal artery tortuousity//retinal haemorrhage with vascular tortuosity//retinal hemorrhage with vascular tortuosity//tortuosity of retinal arteries	COL4A1	COL4A1	https://raresource.nih.gov/literature/disease/0016693	0016693	180000	75326	C0423401		collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal arterial tortuosity"	28
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	imd54//immunodeficiency 54//mini-chromosome maintenance 4//natural killer cell and glucocorticoid deficiency with dna repair defect//primary immunodeficiency due to mcm4 deficiency	MCM4	MCM4	https://raresource.nih.gov/literature/disease/0016695	0016695	609981	75391	C1864947	C566492	minichromosome maintenance complex component 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	None
Grange syndrome	grange occlusive arterial syndrome//grng//progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome//progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome	YY1AP1	YY1AP1	https://raresource.nih.gov/literature/disease/0016697	0016697	602531	79094	C1865267	C566529	YY1 associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Grange syndrome"	11
Eiken syndrome	bone modeling defect of hands and feet//ekns	PTH1R	PTH1R	https://raresource.nih.gov/literature/disease/0016698	0016698	600002	79106	C1838779	C564010	parathyroid hormone 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Eiken syndrome"	9
Neonatal diabetes mellitus with congenital hypothyroidism	ndh syndrome//neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	GLIS3	GLIS3	https://raresource.nih.gov/literature/disease/0016699	0016699	610199	79118	C1857775	C565705	GLIS family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal diabetes mellitus with congenital hypothyroidism"	2
DEND syndrome	dend (developmental delay, epilepsy, neonatal diabetes) syndrome//developmental delay, epilepsy, neonatal diabetes syndrome//developmental delay-epilepsy-neonatal diabetes syndrome//k atp associated developmental delay, epilepsy and neonatal diabetes	NARS2;ABCC8;KCNJ11	NARS2;ABCC8;KCNJ11	https://raresource.nih.gov/literature/disease/0016701	0016701		79134	C4303593		asparaginyl-tRNA synthetase 2, mitochondrial; ATP binding cassette subfamily C member 8; potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DEND syndrome"	46
Generalized epilepsy-paroxysmal dyskinesia syndrome	generalized epilepsy and paroxysmal dyskinesia//gepd//paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy//pnkd3	KCNMA1	KCNMA1	https://raresource.nih.gov/literature/disease/0016704	0016704	609446	79137	C5574945	C563719	potassium calcium-activated channel subfamily M alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy-paroxysmal dyskinesia syndrome"	7
Familial progressive hyperpigmentation	melanosis diffusa congenita//melanosis universalis hereditaria//universal melanosis	KITLG	KITLG	https://raresource.nih.gov/literature/disease/0016706	0016706	614233	79146	CN293905		KIT ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial progressive hyperpigmentation"	20
Acrokeratosis verruciformis of Hopf	acrokeratosis verruciformis//akv//akv - acrokeratosis verruciformis//akv of hopf//hopf disease	ATP2A2	ATP2A2	https://raresource.nih.gov/literature/disease/0016707	0016707	101900	79151	C0265971		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrokeratosis verruciformis of Hopf"	75
2-aminoadipic 2-oxoadipic aciduria	aakad//alpha-aminoadipic aciduria//alpha-aminoadipic and alpha-ketoadipic aciduria//amino adipic aciduria//aminoadipic aciduria//amoxad//ketoadipicaciduria	DHTKD1	DHTKD1	https://raresource.nih.gov/literature/disease/0016708	0016708	204750	79154	C1859817	C565453	dehydrogenase E1 and transketolase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=2-aminoadipic 2-oxoadipic aciduria"	15
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	gout, hprt-related//gout, hprt1-related//hprt deficiency, grade i//hprt deficiency, partial//hprt partial deficiency//hprt-related gout//hprt-related hyperuricemia//hprt1 deficiency, partial//hprt1 partial deficiency//hyperuricemia, hrpt-related, x-linked recessive//hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial//hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency//hypoxanthine guanine phosphoribosyltransferase deficiency, grade i//hypoxanthine guanine phosphoribosyltransferase partial deficiency//kelley-seegmiller syndrome//partial hgprt deficiency	HPRT1	HPRT1	https://raresource.nih.gov/literature/disease/0016710	0016710	300323	79233	C0268117	C562583	hypoxanthine phosphoribosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial hypoxanthine-guanine phosphoribosyltransferase deficiency"	30
Glycogen storage disease IXb	glycogen storage disease 9b//glycogen storage disease caused by mutation in phkb//glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency//glycogen storage disease due to liver and muscle phosphorylase kinase deficiency//glycogen storage disease type 9b//glycogen storage disease type ixb//glycogenosis due to liver and muscle phosphorylase kinase deficiency//glycogenosis of liver and muscle, autosomal recessive//glycogenosis type 9b//glycogenosis type ixb//gsd due to liver and muscle phosphorylase kinase deficiency//gsd ixb//gsd type 9b//gsd type ixb//gsd9b//phkb glycogen storage disease//phkb-related glycogen storage disease type ix//phkb-related phosphorylase kinase deficiency//phosphorylase kinase deficiency of liver and muscle, autosomal recessive	PHKB	PHKB	https://raresource.nih.gov/literature/disease/0016711	0016711	261750	79240	C0543514	C563008	phosphorylase kinase regulatory subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease IXb"	6
Pyruvate dehydrogenase E2 deficiency	dihydrolipoamide acetyltransferase (e2) deficiency//dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency//dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency//lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex//pdhdd//pyruvate dehydrogenase complex component e2 deficiency	DLAT	DLAT	https://raresource.nih.gov/literature/disease/0016712	0016712	245348	79244	C1855565	C565448	dihydrolipoamide S-acetyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E2 deficiency"	2
Congenital bile acid synthesis defect 3	basd3//bile acid synthesis defect, congenital, type 3//cbas3//congenital bile acid synthesis defect caused by mutation in cyp7b1//congenital bile acid synthesis defect type 3//cyp7b1 congenital bile acid synthesis defect//oxysterol 7-alpha-hydroxylase deficiency	CYP7B1	CYP7B1	https://raresource.nih.gov/literature/disease/0016713	0016713	613812	79302	C3151147	C566340	cytochrome P450 family 7 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect 3"	2
Vitamin B12-unresponsive methylmalonic acidemia type mut-	mmut-gene related partial deficiency of methylmalonyl-coenzyme a mutase//mutase- methylmalonic acidemia//partial deficiency of methylmalonyl-coa mutase//partial deficiency of methylmalonyl-coenzyme a mutase//vitamin b12-unresponsive methylmalonic aciduria type mut-	MMUT	MMUT	https://raresource.nih.gov/literature/disease/0016714	0016714		79312	C0342719		methylmalonyl-CoA mutase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin B12-unresponsive methylmalonic acidemia type mut-"	None
Deficiency of phosphoserine phosphatase	3-phosphoserine phosphatase deficiency, infantile/juvenile form//deficiency of choline phosphatase//phosphoserine phosphatase deficiency//psph deficiency//psph deficiency, infantile/juvenile form//psphd	PSPH	PSPH	https://raresource.nih.gov/literature/disease/0016717	0016717	614023	79350	C1291463		phosphoserine phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of phosphoserine phosphatase"	3
PHGDH deficiency	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form//phgdh deficiency, infantile/juvenile form//phosphoglycerate dehydrogenase deficiency	PHGDH	PHGDH	https://raresource.nih.gov/literature/disease/0016718	0016718	601815	79351	C1866174	C566618	phosphoglycerate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PHGDH deficiency"	12
Loricrin keratoderma	camisa disease//keratoderma hereditarium mutilans with ichthyosis//keratoderma hereditarium mutilans with ichthyosis syndrome//keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome//keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome//vohwinkel ichthyosis syndrome//vohwinkel syndrome with ichthyosis	LORICRIN	LORICRIN	https://raresource.nih.gov/literature/disease/0016719	0016719	604117	79395	C1858805	C565826	loricrin cornified envelope precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loricrin keratoderma"	35
Recessive dystrophic epidermolysis bullosa inversa	dystrophic epidermolysis bullosa inversa//dystrophic epidermolysis bullosa inverse type//inverse rdeb//inverse recessive dystrophic epidermolysis bullosa//rdeb inversa//rdeb-i	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0016720	0016720		79409	C1275113		collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recessive dystrophic epidermolysis bullosa inversa"	19
Oculocutaneous albinism type 1A	albinism, oculocutaneous, type ia//oca1 - tyrosinase-negative oculocutaneous albinism//oca1a//oculocutaneous albinism caused by mutation in tyr//oculocutaneous albinism, tyrosinase-negative//tyr oculocutaneous albinism//tyrosinase-negative oculocutaneous albinism//tyrosinase-related oculocutaneous albinism	TYR	TYR	https://raresource.nih.gov/literature/disease/0016721	0016721	203100	79431	C4551504		tyrosinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 1A"	33
Oculocutaneous albinism type 4	albinism, oculocutaneous, type iv//oca4//oculocutaneous albinism caused by mutation in slc45a2//slc45a2 oculocutaneous albinism	SLC45A2	SLC45A2	https://raresource.nih.gov/literature/disease/0016722	0016722	606574	79435	C1847836	C564696	solute carrier family 45 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 4"	36
Cholesterol-ester transfer protein deficiency	cept deficiency//familial hyperalphalipoproteinemia//high density lipoprotein cholesterol level qtl 10//hyperalphalipoproteinemia 1//hyperalphalipoproteinemia type 1	CETP	CETP	https://raresource.nih.gov/literature/disease/0016724	0016724	143470		C3875011		cholesteryl ester transfer protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholesterol-ester transfer protein deficiency"	24
Hypotonia-failure to thrive-microcephaly syndrome	deficiency of leukotriene c4 synthase//hypotonia with failure to thrive and microcephaly syndrome//leukotriene c4 synthase deficiency//ltc4 synthase deficiency	LTC4S	LTC4S	https://raresource.nih.gov/literature/disease/0016725	0016725	614037	79507	C3279662	C565439	leukotriene C4 synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia-failure to thrive-microcephaly syndrome"	1
Autosomal recessive hyperinsulinism due to SUR1 deficiency	autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency//autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0016726	0016726		79643	C5191077		ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive hyperinsulinism due to SUR1 deficiency"	None
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	autosomal recessive hyperinsulinemic hypoglycemia due to kir6.2 deficiency	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0016727	0016727		79644	C5191078		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"	None
Glomuvenous malformation	familial glomangioma//glomangiomas, multiple//glomangiomatosis//glomus tumors, multiple//hereditary glomangioma//hereditary multiple glomangioma//hereditary multiple glomangiomas//multiple glomus tumors//multiple glomus tumours//venous malformations with glomus cells//vmglom	GLMN	GLMN	https://raresource.nih.gov/literature/disease/0016728	0016728	138000	83454	C1841984	C536827	glomulin, FKBP associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glomuvenous malformation"	129
Congenital malabsorptive diarrhea 4	congenital diarrhea caused by mutation in neurog3//congenital diarrhoea caused by mutation in neurog3//congenital malabsorptive diarrhea due to paucity of enteroendocrine cells//congenital malabsorptive diarrhea type 4//congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells//congenital malabsorptive diarrhoea type 4//diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency//enteric anendocrinosis//neurog3 congenital diarrhea//neurog3 congenital diarrhoea	NEUROG3	NEUROG3	https://raresource.nih.gov/literature/disease/0016729	0016729	610370	83620	C1835888	C563673	neurogenin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital malabsorptive diarrhea 4"	6
Senior-Boichis syndrome	boichis disease//boichis syndrome//nephronophthisis hepatic fibrosis syndrome//nephronophthisis-hepatic fibrosis syndrome	TMEM67;DCDC2	TMEM67;DCDC2	https://raresource.nih.gov/literature/disease/0016730	0016730		84081	C4274018		transmembrane protein 67; doublecortin domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Boichis syndrome"	3
Desmin-related myopathy with Mallory body-like inclusions	early onset desmin related myopathy//early-onset desmin-related myopathy	SELENON	SELENON	https://raresource.nih.gov/literature/disease/0016732	0016732		84132	C4275073		selenoprotein N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmin-related myopathy with Mallory body-like inclusions"	None
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal//palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome	RSPO1	RSPO1	https://raresource.nih.gov/literature/disease/0016733	0016733	610644	85112	C3149931	C567165	R-spondin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	None
Bothnia retinal dystrophy	vasterbotten dystrophy//vc$sterbotten dystrophy//västerbotten dystrophy	RLBP1	RLBP1	https://raresource.nih.gov/literature/disease/0016734	0016734	607475	85128	C1843816	C564392	retinaldehyde binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bothnia retinal dystrophy"	None
Familial digital arthropathy-brachydactyly		TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0016735	0016735	606835	85169	C1847406	C564656	transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial digital arthropathy-brachydactyly"	4
Microcephalic osteodysplastic dysplasia, Saul-Wilson type	microcephalic osteodysplastic dysplasia//saul-wilson syndrome//swils	COG4	COG4	https://raresource.nih.gov/literature/disease/0016736	0016736	618150	85172	C1300285		component of oligomeric golgi complex 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic osteodysplastic dysplasia, Saul-Wilson type"	14
Calvarial doughnut lesions-bone fragility syndrome	calvarial doughnut lesion with bone fragility syndrome//calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia//doughnut lesion of calvaria and bone fragility syndrome//doughnut lesions of skull, familial//familial doughnut lesions of skull	SGMS2	SGMS2	https://raresource.nih.gov/literature/disease/0016739	0016739	126550	85192	C1852022	C565089	sphingomyelin synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Calvarial doughnut lesions-bone fragility syndrome"	None
Spondylo-ocular syndrome	spondyloocular syndrome, autosomal recessive	XYLT2	XYLT2	https://raresource.nih.gov/literature/disease/0016740	0016740	605822	85194	C4225412		xylosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylo-ocular syndrome"	9
Armfield syndrome	armfield x-linked intellectual disability syndrome//armfield x-linked mental retardation syndrome//intellectual developmental disorder, x-linked, syndromic, armfield type, x-linked recessive//intellectual disability syndrome, x-linked, armfield type//mental retardation syndrome, x-linked, armfield type//mental retardation syndrome, x-linked, armfield type, x-linked recessive//mrxsa//syndromic x-linked intellectual disability armfield type//syndromic x-linked mental retardation armfield type//x-linked intellectual disability, armfield type	FAM50A	FAM50A	https://raresource.nih.gov/literature/disease/0016742	0016742	300261	85276	C1846057	C564551	family with sequence similarity 50 member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Armfield syndrome"	1
X-linked intellectual disability, Cantagrel type	intellectual developmental disorder, x-linked 98//intellectual developmental disorder, x-linked 98, x-linked dominant//intellectual disability, x-linked type 98//kiaa2022-related x-linked mental retardation//mental retardation, x-linked type 98//xlid98	NEXMIF	NEXMIF	https://raresource.nih.gov/literature/disease/0016743	0016743	300912	85277	C3806730		neurite extension and migration factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Cantagrel type"	None
Syndromic X-linked intellectual disability Claes-Jensen type	intellectual developmental disorder, x-linked syndromic, claes-jensen type, x-linked recessive//intellectual developmental disorder, x-linked, syndromic 16//intellectual developmental disorder, x-linked, syndromic, claes-jensen type//intellectual disability, x-linked, syndromic, claes-jensen type//kdm5c-related syndromic x-linked intellectual disability//mental retardation, x-linked, syndromic 16//mental retardation, x-linked, syndromic, claes-jensen type//mrxscj//mrxsj//syndromic x-linked intellectual disability due to jarid1c mutation//syndromic x-linked intellectual disability jarid1c-related//syndromic x-linked mental retardation jarid1c-related	KDM5C	KDM5C	https://raresource.nih.gov/literature/disease/0016744	0016744	300534	85279	C1845243	C564494	lysine demethylase 5C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Claes-Jensen type"	3
BRESEK syndrome	brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome//brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome//bresek (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome//bresheck syndrome//x-linked mental retardation reish type	MBTPS2	MBTPS2	https://raresource.nih.gov/literature/disease/0016746	0016746		85284	C3502469	C564519	membrane bound transcription factor peptidase, site 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BRESEK syndrome"	7
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	epilepsy, x-linked, with variable learning disabilities and behavior disorders, x-linked recessive, x-linked dominant//epilepsy, x-linked, with variable learning disabilities and behaviour disorders, x-linked recessive, x-linked dominant//x-linked epilepsy-learning disabilities-behavior disorders syndrome	SYN1	SYN1	https://raresource.nih.gov/literature/disease/0016748	0016748	300491	85294	C5774177	C564505	synapsin I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	None
HSD10 disease, atypical type	hsd10 deficiency, atypical type//syndromic x-linked intellectual disability type 10//x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome	HSD17B10	HSD17B10	https://raresource.nih.gov/literature/disease/0016749	0016749		85295	C5680206		hydroxysteroid 17-beta dehydrogenase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HSD10 disease, atypical type"	None
Fried syndrome		AP1S2	AP1S2	https://raresource.nih.gov/literature/disease/0016753	0016753		85335	C4305134		adaptor related protein complex 1 subunit sigma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fried syndrome"	4
ATTRV122I amyloidosis	attr cardiomyopathy//attrv122i-related amyloidosis//transthyretin amyloid cardiopathy//transthyretin related familial amyloid cardiomyopathy//transthyretin-related familial amyloid cardiomyopathy//ttr-related amyloid cardiomyopathy//ttr-related cardiac amyloidosis	TTR	TTR	https://raresource.nih.gov/literature/disease/0016755	0016755		85451	C4275067		transthyretin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ATTRV122I amyloidosis"	89
X-linked reticulate pigmentary disorder	familial cutaneous amyloidosis//partington disease//pdr//pigmentary disorder, reticulate, with systemic manifestations, x-linked//pigmentary disorder, reticulate, with systemic manifestations, x-linked, x-linked recessive//x-linked cutaneous amyloidosis//x-linked reticulate pigmentary disorder with systemic manifestation syndrome//xlpdr	POLA1	POLA1	https://raresource.nih.gov/literature/disease/0016756	0016756	301220	85453	C1845050	C564461	DNA polymerase alpha 1, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked reticulate pigmentary disorder"	3247
Helicoid peripapillary chorioretinal degeneration	atrophia areata//helicoidal peripapillary chorioretinal degeneration//peripapillary chorioretinal degeneration, icelandic type//scra//sveinsson chorioretinal atrophy	TEAD1	TEAD1	https://raresource.nih.gov/literature/disease/0016757	0016757	108985	86813	C1862382	C566236	TEA domain transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Helicoid peripapillary chorioretinal degeneration"	20
Benign adult familial myoclonic epilepsy	adcme//autosomal dominant cortical myoclonus and epilepsy//bafme//bafme - benign adult familial myoclonic epilepsy//benign adult familial myoclonus epilepsy//fame//familial adult myoclonic epilepsy//familial cortical myoclonic tremor and epilepsy//fcmte	SAMD12;ADRA2B;CNTN2;YEATS2;CTNND2;MARCHF6	SAMD12;ADRA2B;CNTN2;YEATS2;CTNND2;MARCHF6	https://raresource.nih.gov/literature/disease/0016758	0016758		86814	C4273988		sterile alpha motif domain containing 12; adrenoceptor alpha 2B; contactin 2; YEATS domain containing 2; catenin delta 2; membrane associated ring-CH-type finger 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign adult familial myoclonic epilepsy"	147
Congenital absence of salivary gland	alsg//aplasia of lacrimal and salivary gland//aplasia of lacrimal and salivary glands//congenital absence of lacrimal puncta and salivary glands//congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland//salivary glands, absence of	FGF10	FGF10	https://raresource.nih.gov/literature/disease/0016759	0016759	180920	86815	C0158667		fibroblast growth factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital absence of salivary gland"	16
Hemolytic anemia due to adenylate kinase deficiency	adenylate kinase deficiency, hemolytic anaemia due to//adenylate kinase deficiency, hemolytic anemia due to//anemia, congenital, nonspherocytic hemolytic, 3//cnsha3	AK1	AK1	https://raresource.nih.gov/literature/disease/0016760	0016760	612631	86817	C2675459	C567228	adenylate kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to adenylate kinase deficiency"	None
Atrichia with papular lesions	apl//papular atrichia	HR	HR	https://raresource.nih.gov/literature/disease/0016762	0016762	209500	86819	C1859592	C565924	HR lysine demethylase and nuclear receptor corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrichia with papular lesions"	5450
Blue color blindness	blue colour blindness//blue yellow color blindness//blue yellow colour blindness//blue-yellow dyschromatopsia//blue/yellow color vision defect//blue/yellow colour vision defect//colorblindness, tritan//colorblindness, tritanopic//congenital tritanopia//dyschromatopsia, blue-yellow//tritan color blindness//tritan colour blindness//tritan defect//tritanomaly//tritanopia	OPN1SW	OPN1SW	https://raresource.nih.gov/literature/disease/0016768	0016768	190900	88629	C0155017		opsin 1, short wave sensitive	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blue color blindness"	96
Terminal osseous dysplasia-pigmentary defects syndrome	odpd//odpf syndrome//osseous dysplasia, digital, with facial pigmentary defects and multiple frenula//terminal osseous dysplasia and pigmentary defects//terminal osseous dysplasia, x-linked dominant	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0016769	0016769	300244	88630	C1846129	C564554	filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Terminal osseous dysplasia-pigmentary defects syndrome"	2
Myopathy due to calsequestrin and SERCA1 protein overload	myopathy, vacuolar, with casq1 aggregates//vacuolar aggregate myopathy//vacuolar myopathy with sarcoplasmic reticulum protein aggregates	CASQ1	CASQ1	https://raresource.nih.gov/literature/disease/0016770	0016770	616231	88635	C4015624		calsequestrin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy due to calsequestrin and SERCA1 protein overload"	2
Hepatocellular carcinoma	cancer, hepatocellular//carcinoma of liver//carcinoma of liver cells//carcinoma of the liver cells//carcinoma, hepatocellular, malignant//hcc//hcc - hepatocellular carcinoma//hepatoblastoma, somatic//hepatocarcinoma//hepatocellular adenocarcinoma//hepatocellular cancer//hepatocellular cancer, somatic//hepatocellular carcinoma, childhood type, somatic//hepatocellular carcinoma, somatic//hepatoma//hepatoma, malignant//increased hepatocellular carcinoma risk//increased incidence of hepatocellular carcinoma//lcc - liver cell carcinoma//liver carcinoma//liver cell cancer (hepatocellular carcinoma)//liver cell carcinoma//malignant hepatoma//primary carcinoma of liver//primary carcinoma of liver cells//primary carcinoma of the liver cells//primary hepatocarcinoma//primary hepatocellular carcinoma//primary liver cell carcinoma//primary malignant hepatoma	TP53;APC;AXIN1;CASP8;PIK3CA;MET;CTNNB1;PDGFRL;IGF2R	TP53;APC;AXIN1;CASP8;PIK3CA;MET;CTNNB1;PDGFRL;IGF2R	https://raresource.nih.gov/literature/disease/0016773	0016773	114550	88673	C2239176	D006528	tumor protein p53; APC regulator of WNT signaling pathway; axin 1; caspase 8; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; MET proto-oncogene, receptor tyrosine kinase; catenin beta 1; platelet derived growth factor receptor like; insulin like growth factor 2 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatocellular carcinoma"	164285
X-linked Alport syndrome	alport syndrome 1, x-linked, x-linked dominant//alport syndrome and thin basement membrane nephropathy//alport syndrome, x-linked//ats1//nephropathy and deafness, x-linked	COL4A5	COL4A5	https://raresource.nih.gov/literature/disease/0016774	0016774	301050	88917	C4746986		collagen type IV alpha 5 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Alport syndrome"	312
Pseudohypoaldosteronism type 2B	pha2b//pseudohypoaldosteronism type 2 caused by mutation in wnk4//wnk4 pseudohypoaldosteronism type 2	WNK4	WNK4	https://raresource.nih.gov/literature/disease/0016776	0016776	614491	88939	C1840390	C564161	WNK lysine deficient protein kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism type 2B"	None
Pseudohypoaldosteronism type 2C	pha2c//pseudohypoaldosteronism type 2 caused by mutation in wnk1//pseudohypoaldosteronism, type iic//wnk1 pseudohypoaldosteronism type 2	WNK1	WNK1	https://raresource.nih.gov/literature/disease/0016777	0016777	614492	88940	C1840391	C564162	WNK lysine deficient protein kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism type 2C"	1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	autosomal recessive generalized ebs//autosomal recessive generalized epidermolysis bullosa simplex//ebs, autosomal recessive k14//ebs-ar krt14//epidermolysis bullosa simplex, autosomal recessive type 1//krt14-related autosomal recessive ebs//krt14-related autosomal recessive epidermolysis bullosa simplex//krt14-related epidermolysis bullosa simplex	KRT14	KRT14	https://raresource.nih.gov/literature/disease/0016778	0016778	601001	89838	C3715082	C563408	keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	None
Epidermolysis bullosa pruriginosa	deb pruriginosa//deb, pruriginosa//deb-pr//dystrophic epidermolysis bullosa pruriginosa//pruriginous dystrophic epidermolysis bullosa	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0016779	0016779	604129	89843	C1275114	C563192	collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa pruriginosa"	114
Norman-Roberts syndrome	lis2//lissencephaly 2//lissencephaly 2 (norman-roberts type)//lissencephaly syndrome norman roberts type//lissencephaly syndrome, norman-roberts type//microlissencephaly type a	RELN	RELN	https://raresource.nih.gov/literature/disease/0016780	0016780	257320	89844	C0796089		reelin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Norman-Roberts syndrome"	8
Autosomal dominant hypophosphatemic rickets	adhr//autosomal dominant hereditary hypophosphatemic rickets//autosomal dominant hypophosphatemia//hereditary hypophosphatemic rickets, autosomal dominant//hypophosphatemia, autosomal dominant//hypophosphatemic rickets, autosomal dominant//vitamin d-resistant rickets, autosomal dominant	FGF23	FGF23	https://raresource.nih.gov/literature/disease/0016781	0016781	193100	89937	C0342642	C562791	fibroblast growth factor 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypophosphatemic rickets"	138
Primary immunodeficiency syndrome due to p14 deficiency	primary immunodeficiency syndrome due to lamtor2 deficiency//primary immunodeficiency syndrome with short stature	LAMTOR2	LAMTOR2	https://raresource.nih.gov/literature/disease/0016783	0016783	610798	90023	C1835829	C563663	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary immunodeficiency syndrome due to p14 deficiency"	None
Hemolytic anemia due to glutathione reductase deficiency	anemia, congenital, nonspherocytic hemolytic, 10//cnsha10	GSR	GSR	https://raresource.nih.gov/literature/disease/0016784	0016784	618660	90030	C5231513		glutathione-disulfide reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to glutathione reductase deficiency"	None
Familial pseudohyperkalemia	cryohydrocytosis, mild//pseudohyperkalemia chiswick//pseudohyperkalemia east london//pseudohyperkalemia falkirk//pseudohyperkalemia lille//pseudohyperkalemia, familial, 2, due to red cell leak//pshk2	ABCB6	ABCB6	https://raresource.nih.gov/literature/disease/0016785	0016785	609153	90044	C1836705	C563785	ATP binding cassette subfamily B member 6 (LAN blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial pseudohyperkalemia"	21
Hereditary motor and sensory neuropathy with optic atrophy	charcot-marie-tooth disease type 6//charcot-marie-tooth disease, type 6//cmt6//hereditary motor and sensory neuropathy type 6//hereditary motor and sensory neuropathy type vi//hereditary motor and sensory neuropathy vi//hereditary motor-sensory neuropathy with optic atrophy//hereditary motor-sensory neuropathy, type vi//hereditary sensory and motor neuropathy, type vi//hmsn 6//hmsn vi//peripheral neuropathy and optic atrophy	SLC25A46;MFN2	SLC25A46;MFN2	https://raresource.nih.gov/literature/disease/0016787	0016787		90120	C0393807		solute carrier family 25 member 46; mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary motor and sensory neuropathy with optic atrophy"	17
Hypotrichosis simplex of the scalp	hereditary hypotrichosis simplex of the scalp	CDSN;KRT74	CDSN;KRT74	https://raresource.nih.gov/literature/disease/0016789	0016789		90368	CN294233		corneodesmosin; keratin 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis simplex of the scalp"	24
X-linked nonsyndromic hearing loss	nonsyndromic hearing loss and deafness, x-linked//rare x-linked non-syndromic sensorineural deafness type dfn//x-linked isolated neurosensory deafness type dfn//x-linked isolated neurosensory hearing loss type dfn//x-linked isolated sensorineural deafness type dfn//x-linked isolated sensorineural hearing loss type dfn//x-linked non-syndromic neurosensory deafness type dfn//x-linked non-syndromic neurosensory hearing loss type dfn//x-linked non-syndromic sensorineural deafness type dfn//x-linked non-syndromic sensorineural hearing loss type dfn//x-linked nonsyndromic deafness	SMPX;PRPS1;COL4A6	SMPX;PRPS1;COL4A6	https://raresource.nih.gov/literature/disease/0016790	0016790		90625	C5680192		small muscle protein X-linked; phosphoribosyl pyrophosphate synthetase 1; collagen type IV alpha 6 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked nonsyndromic hearing loss"	12
Autosomal dominant nonsyndromic hearing loss	autosomal dominant isolated neurosensory deafness type dfna//autosomal dominant isolated neurosensory hearing loss type dfna//autosomal dominant isolated sensorineural deafness type dfna//autosomal dominant isolated sensorineural hearing loss type dfna//autosomal dominant non-syndromic neurosensory deafness type dfna//autosomal dominant non-syndromic neurosensory hearing loss type dfna//autosomal dominant non-syndromic sensorineural deafness type dfna//autosomal dominant non-syndromic sensorineural hearing loss type dfna//autosomal dominant nonsyndromic hearing impairment//rare autosomal dominant non-syndromic sensorineural deafness type dfna	GJB6;KCNQ4;KITLG;PLS1;POU4F3;TMC1;GJB3;WFS1;ATP11A;P2RX2;HOMER2;COL11A1;EYA4;TNC;TECTA;TJP2;TRRAP;CRYM;MIR96;MYO1C;MYO6;PDE1C;ACTG1;COCH;MYH14;MCM2;SLC44A4;DIABLO;GJB2;MYO7A;PTPRQ;CD164;CCDC50;TBC1D24;ABCC1;MYH9;OSBPL2;USP48;GRHL2;GSDME;DMXL2;MAP1B;SIX1;DIAPH3;SLC17A8;COL11A2;CEACAM16;CENPP	GJB6;KCNQ4;KITLG;PLS1;POU4F3;TMC1;GJB3;WFS1;ATP11A;P2RX2;HOMER2;COL11A1;EYA4;TNC;TECTA;TJP2;TRRAP;CRYM;MIR96;MYO1C;MYO6;PDE1C;ACTG1;COCH;MYH14;MCM2;SLC44A4;DIABLO;GJB2;MYO7A;PTPRQ;CD164;CCDC50;TBC1D24;ABCC1;MYH9;OSBPL2;USP48;GRHL2;GSDME;DMXL2;MAP1B;SIX1;DIAPH3;SLC17A8;COL11A2;CEACAM16;CENPP	https://raresource.nih.gov/literature/disease/0016791	0016791		90635	C5779548		gap junction protein beta 6; potassium voltage-gated channel subfamily Q member 4; KIT ligand; plastin 1; POU class 4 homeobox 3; transmembrane channel like 1; gap junction protein beta 3; wolframin ER transmembrane glycoprotein; ATPase phospholipid transporting 11A; purinergic receptor P2X 2; homer scaffold protein 2; collagen type XI alpha 1 chain; EYA transcriptional coactivator and phosphatase 4; tenascin C; tectorin alpha; tight junction protein 2; transformation/transcription domain associated protein; crystallin mu; microRNA 96; myosin IC; myosin VI; phosphodiesterase 1C; actin gamma 1; cochlin; myosin heavy chain 14; minichromosome maintenance complex component 2; solute carrier family 44 member 4; diablo IAP-binding mitochondrial protein; gap junction protein beta 2; myosin VIIA; protein tyrosine phosphatase receptor type Q; CD164 molecule; coiled-coil domain containing 50; TBC1 domain family member 24; ATP binding cassette subfamily C member 1 (ABCC1 blood group); myosin heavy chain 9; oxysterol binding protein like 2; ubiquitin specific peptidase 48; grainyhead like transcription factor 2; gasdermin E; Dmx like 2; microtubule associated protein 1B; SIX homeobox 1; diaphanous related formin 3; solute carrier family 17 member 8; collagen type XI alpha 2 chain; CEA cell adhesion molecule 16, tectorial membrane component; centromere protein P	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss"	106
Mitochondrial non-syndromic sensorineural hearing loss	isolated mitochondrial neurosensory deafness//isolated mitochondrial neurosensory hearing loss//isolated mitochondrial sensorineural deafness//isolated mitochondrial sensorineural hearing loss//mitochondrial non-syndromic neurosensory deafness//mitochondrial non-syndromic neurosensory hearing loss//mitochondrial non-syndromic sensorineural deafness//mt-co1-related hearing loss and deafness//mt-rnr1-related hearing loss and deafness//mt-ts1-related hearing loss and deafness//nonsyndromic hearing loss and deafness, mitochondrial	MT-RNR1;MT-TS1;MT-CO1	MT-RNR1;MT-TS1;MT-CO1	https://raresource.nih.gov/literature/disease/0016792	0016792	500008	90641	C3151897		mitochondrially encoded 12S rRNA; mitochondrially encoded tRNA-Ser (UCN) 1; mitochondrially encoded cytochrome c oxidase I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial non-syndromic sensorineural hearing loss"	2
Hypothyroidism due to TSH receptor mutations	chng1//congenital hypothyroidism due to thyroid stimulating hormone receptor mutation//hypothyroidism due to tsh receptor mutation//hypothyroidism due to tshr (thyroid stimulating hormone receptor) mutation//hypothyroidism due to unresponsiveness to thyrotropin//hypothyroidism, congenital, due to tsh resistance//hypothyroidism, congenital, nongoitrous, 1//hypothyroidism, congenital, nongoitrous, type 1//hypothyroidism, nonautoimmune//thyroid-stimulating hormone, resistance to//tsh resistance	TSHR	TSHR	https://raresource.nih.gov/literature/disease/0016793	0016793	275200	90673	C3493776		thyroid stimulating hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism due to TSH receptor mutations"	10
Cardiomyopathy-hypotonia-lactic acidosis syndrome	hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome//mitochondrial phosphate carrier deficiency//mpcd	SLC25A3	SLC25A3	https://raresource.nih.gov/literature/disease/0016795	0016795	610773	91130	C1835845	C563665	solute carrier family 25 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy-hypotonia-lactic acidosis syndrome"	7
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency//pseudoxanthoma elasticum-like syndrome//pxe-like disorder with multiple coagulation factor deficiency//pxe-like syndrome	GGCX	GGCX	https://raresource.nih.gov/literature/disease/0016796	0016796	610842	91135	C1835813	C563654	gamma-glutamyl carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	15
Isolated cryptophthalmia	ankyloblepharon, simple//cryptophthalmos, unilateral or bilateral, isolated//nonsyndromic cryptophthalmia	FREM2	FREM2	https://raresource.nih.gov/literature/disease/0016797	0016797	123570	91396	C1852453	C565138	FRAS1 related extracellular matrix 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated cryptophthalmia"	None
Ptosis, hereditary congenital, 1	congenital eyelid ptosis//congenital ptosis//congenital ptosis (disease)//hereditary congenital ptosis//ptosis, congenital	COL25A1	COL25A1	https://raresource.nih.gov/literature/disease/0016798	0016798	178300	91411	C1867438	C566737	collagen type XXV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ptosis, hereditary congenital, 1"	552
Sclerocornea	hardening of skin and connective tissue//isolated congenital sclerocornea//sclerocornea (disease)	GJA8	GJA8	https://raresource.nih.gov/literature/disease/0016800	0016800		91490	C1853235	C565209	gap junction protein alpha 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sclerocornea"	149
Persistent hyperplastic primary vitreous	congenital retinal detachment//congenital retinal septum//ncrna disease//non-syndromic congenital retinal non-attachment//persistent fetal vasculature//persistent fetal vasculature syndrome//persistent foetal vasculature//persistent foetal vasculature syndrome//persistent hyaloid artery//persistent hyperplasia of primary vitreous//persistent hypertrophic primary vitreous//persistent posterior fetal fibrovascular sheath of the lens//persistent posterior foetal fibrovascular sheath of the lens//persistent tunica vasculosa lentis//pfvs//phpv//phpv - persistent hyperplastic primary vitreous//remnants of the hyaloid vascular system	ATOH7;NDP;FZD4	ATOH7;NDP;FZD4	https://raresource.nih.gov/literature/disease/0016803	0016803		91495	C0266568	D054514	atonal bHLH transcription factor 7; norrin cystine knot growth factor NDP; frizzled class receptor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Persistent hyperplastic primary vitreous"	461
Unilateral renal agenesis	absent kidney on one side//congenital single kidney//congenital solitary kidney//missing one kidney//renal agenesis, unilateral//single kidney//solitary kidney//unilateral kidney agenesis	FRAS1;UPK3A;RET;FREM2;BMP4;DSTYK;GREB1L;FREM1	FRAS1;UPK3A;RET;FREM2;BMP4;DSTYK;GREB1L;FREM1	https://raresource.nih.gov/literature/disease/0016804	0016804		93100	C0266294	D000075529	Fraser extracellular matrix complex subunit 1; uroplakin 3A; ret proto-oncogene; FRAS1 related extracellular matrix 2; bone morphogenetic protein 4; dual serine/threonine and tyrosine protein kinase; GREB1 like retinoic acid receptor coactivator; FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Unilateral renal agenesis"	940
Vitamin D-dependent rickets, type 2	calcitriol receptor defect//end organ unresponsiveness to 1,25-dihydroxycholecalciferol//familial hypophosphatemic rickets//hereditary 1,25 dihydroxyvitamin d-resistant rickets with abnormal vitamin d receptor//hereditary vitamin d-resistant rickets//hvdrr//hypocalcemic vitamin d-resistant rickets//type 2 vitamin d-dependent rickets//vddr ii//vddr2//vdrr ii//vitamin d dependent rickets 2//vitamin d receptor deficiency//vitamin d-dependent rickets type ii//vitamin d-resistant rickets type ii	VDR	VDR	https://raresource.nih.gov/literature/disease/0016805	0016805		93160	C3536983	D053098	vitamin D receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin D-dependent rickets, type 2"	267
Fragile X-associated tremor/ataxia syndrome	fragile x tremor/ataxia syndrome, x-linked dominant//fxtas syndrome	FMR1	FMR1	https://raresource.nih.gov/literature/disease/0016806	0016806	300623	93256	C1839780	C564105	fragile X messenger ribonucleoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fragile X-associated tremor/ataxia syndrome"	682
Pfeiffer syndrome type 1	classic pfeiffer syndrome	FGFR2;FGFR1	FGFR2;FGFR1	https://raresource.nih.gov/literature/disease/0016807	0016807		93258	C5438812		fibroblast growth factor receptor 2; fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pfeiffer syndrome type 1"	4
Pfeiffer syndrome type 2		FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0016808	0016808		93259	C5438849		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pfeiffer syndrome type 2"	15
Pfeiffer syndrome type 3	pfeiffer syndrome, type iii	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0016809	0016809		93260	C5438850		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pfeiffer syndrome type 3"	8
Crouzon syndrome-acanthosis nigricans syndrome	can//chronic allograft nephropathy//chronic kidney allograft nephropathy//crouzon syndrome with acanthosis nigricans//crouzon-dermoskeletal syndrome//crouzonodermoskeletal syndrome	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0016810	0016810	612247	93262	C2677099	C567382	fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crouzon syndrome-acanthosis nigricans syndrome"	2353
Namaqualand hip dysplasia	mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis//oscdp	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0016812	0016812	604864	93279	C0432214	C565740	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Namaqualand hip dysplasia"	3
Spondyloepimetaphyseal dysplasia, PAPSS2 type	brachyolmia 4 with mild epiphyseal and metaphyseal changes//brachyolmia type 4 with mild epiphyseal and metaphyseal changes//semd, pakistani type//spondylodysplasia and premature pubarche//spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type//spondyloepimetaphyseal dysplasia pakistani type//spondyloepimetaphyseal dysplasia papss2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type//spondyloepimetaphyseal dysplasia, pakistani type	PAPSS2	PAPSS2	https://raresource.nih.gov/literature/disease/0016813	0016813	612847	93282	C2748516		3'-phosphoadenosine 5'-phosphosulfate synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, PAPSS2 type"	None
Spondyloepiphyseal dysplasia, Kimberley type		ACAN	ACAN	https://raresource.nih.gov/literature/disease/0016814	0016814	608361	93283	C1842149	C564252	aggrecan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia, Kimberley type"	1
Hypochondrogenesis		COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0016815	0016815		93297	C0542428	C563007	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypochondrogenesis"	42
Postaxial polydactyly type A	nonsyndromic postaxial polydactyly type a//papa//postaxial polydactyly type a (disease)	ZNF141;CIBAR1;GLI1;KIAA0825;IQCE;GLI3	ZNF141;CIBAR1;GLI1;KIAA0825;IQCE;GLI3	https://raresource.nih.gov/literature/disease/0016817	0016817		93334	C3887487		zinc finger protein 141; CBY1 interacting BAR domain containing 1; GLI family zinc finger 1; KIAA0825; IQ motif containing E; GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postaxial polydactyly type A"	96
Postaxial polydactyly type B	papb	GLI1;GLI3	GLI1;GLI3	https://raresource.nih.gov/literature/disease/0016818	0016818		93335	C1868120		GLI family zinc finger 1; GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postaxial polydactyly type B"	17
Brachydactyly-syndactyly syndrome	bdsd//brachydactyly-syndactyly, zhao type	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0016821	0016821	610713	93409	C1853137	C565193	homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly-syndactyly syndrome"	2
Late-onset nephronophthisis		MAPKBP1;NPHP3;XPNPEP3	MAPKBP1;NPHP3;XPNPEP3	https://raresource.nih.gov/literature/disease/0016824	0016824		93589	C5681620		mitogen-activated protein kinase binding protein 1; nephrocystin 3; X-prolyl aminopeptidase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-onset nephronophthisis"	None
Autosomal recessive proximal renal tubular acidosis	ar prta//proximal renal tubular acidosis with ocular abnormalities//proximal renal tubular acidosis with ocular abnormalities and intellectual disability//proximal renal tubular acidosis, autosomal recessive//proximal renal tubular acidosis-ocular anomaly syndrome//prtao//renal tubular acidosis, proximal, with ocular abnormalities//renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development//renal tubular acidosis, proximal, with ocular abnormalities and mental retardation//rta, proximal, autosomal recessive	SLC4A4	SLC4A4	https://raresource.nih.gov/literature/disease/0016826	0016826	604278	93607	C1970309	C567038	solute carrier family 4 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive proximal renal tubular acidosis"	4
Cystinuria type A		SLC3A1	SLC3A1	https://raresource.nih.gov/literature/disease/0016827	0016827		93612	C1857388	C565652	solute carrier family 3 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystinuria type A"	7
Cystinuria type B		SLC7A9	SLC7A9	https://raresource.nih.gov/literature/disease/0016828	0016828		93613	C1857389		solute carrier family 7 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystinuria type B"	5
Hemoglobin H disease	alpha thalassemia, haemoglobin h type//alpha thalassemia, hemoglobin h type//alpha-thalassemia intermedia//alpha-thalassemia, hemoglobin h type//haemoglobin h disease, deletional//haemoglobin h disease, deletional and nondeletional//hba1;hba2 digenic triallelic hemoglobin h disease//hbh//hbh disease//hemoglobin h disease caused by triallelic variation in hba1;hba2//hemoglobin h disease related to triallelic variation in hba1 and hba2//hemoglobin h disease, deletional//hemoglobin h disease, deletional and nondeletional	HBA1;HBA2	HBA1;HBA2	https://raresource.nih.gov/literature/disease/0016829	0016829	613978	93616	C3161174		hemoglobin subunit alpha 1; hemoglobin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin H disease"	479
Lobar holoprosencephaly	cingulosynapsis//olfactory aplasia	FGF8;SIX3;DLL1;GAS1;PTCH1;STIL;FOXH1;TGIF1;ZIC2;CRIPTO;SHH;GLI2;NODAL;CDON;DISP1	FGF8;SIX3;DLL1;GAS1;PTCH1;STIL;FOXH1;TGIF1;ZIC2;CRIPTO;SHH;GLI2;NODAL;CDON;DISP1	https://raresource.nih.gov/literature/disease/0016830	0016830		93924	C0431362		fibroblast growth factor 8; SIX homeobox 3; delta like canonical Notch ligand 1; growth arrest specific 1; patched 1; STIL centriolar assembly protein; forkhead box H1; TGFB induced factor homeobox 1; Zic family member 2; cripto, EGF-CFC family member; sonic hedgehog signaling molecule; GLI family zinc finger 2; nodal growth differentiation factor; cell adhesion associated, oncogene regulated; dispatched RND transporter family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lobar holoprosencephaly"	99
Alobar holoprosencephaly		CRIPTO;TGIF1;STAG2;SIX3;NODAL;FOXH1;FGF8;ZIC2;GLI2;CDON;GAS1;SHH;PTCH1;PLCH1;DISP1;STIL;DLL1	CRIPTO;TGIF1;STAG2;SIX3;NODAL;FOXH1;FGF8;ZIC2;GLI2;CDON;GAS1;SHH;PTCH1;PLCH1;DISP1;STIL;DLL1	https://raresource.nih.gov/literature/disease/0016831	0016831		93925	C0431363		cripto, EGF-CFC family member; TGFB induced factor homeobox 1; STAG2 cohesin complex component; SIX homeobox 3; nodal growth differentiation factor; forkhead box H1; fibroblast growth factor 8; Zic family member 2; GLI family zinc finger 2; cell adhesion associated, oncogene regulated; growth arrest specific 1; sonic hedgehog signaling molecule; patched 1; phospholipase C eta 1; dispatched RND transporter family member 1; STIL centriolar assembly protein; delta like canonical Notch ligand 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alobar holoprosencephaly"	205
Syndromic X-linked intellectual disability Hedera type	intellectual developmental disorder, x-linked, syndromic, hedera type//intellectual developmental disorder, x-linked, syndromic, hedera type, x-linked recessive//intellectual disability, x-linked, syndromic, hedera type//mental retardation, x-linked, syndromic, hedera type//mrxe//mrxsh//x-linked intellectual disability hedera type//x-linked intellectual disability with epilepsy//x-linked intellectual disability, hedera type//x-linked mental retardation with epilepsy	ATP6AP2	ATP6AP2	https://raresource.nih.gov/literature/disease/0016834	0016834	300423	93952	C1845543	C564516	ATPase H+ transporting accessory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Hedera type"	2
Cayman type cerebellar ataxia	ataxia, cerebellar, cayman type//cayman ataxia//cayman cerebellar ataxia//cerebellar ataxia cayman type//cerebellar ataxia, cayman type	ATCAY	ATCAY	https://raresource.nih.gov/literature/disease/0016836	0016836	601238	94122	C1832585	C563363	ATCAY kinesin light chain interacting caytaxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cayman type cerebellar ataxia"	21
Anonychia	absent nails//ann - anonychia//anonychia congenita//anonychia congenita totalis//anonychia totalis//anonychia/hyponychia congenita//aplastic nails//congenital absent nails//hyponychia congenita//isolated congenital anonychia caused by mutation in rspo4//nail disorder, nonsyndromic congenital, 4//nail disorder, nonsyndromic congenital, type 4//ndnc4//nonsyndromic congenital nail disorder 4//nonsyndromic congenital nail disorder type 4//rspo4 isolated congenital anonychia	RSPO4	RSPO4	https://raresource.nih.gov/literature/disease/0016837	0016837	206800	94150	C0265998	C536377	R-spondin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anonychia"	113
Lissencephaly due to LIS1 mutation	isolated lissencephaly sequence//lis1//pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly//pafah1b1-related lissencephaly	PAFAH1B1	PAFAH1B1	https://raresource.nih.gov/literature/disease/0016838	0016838		95232	C4749301		platelet activating factor acetylhydrolase 1b regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly due to LIS1 mutation"	30
Posterior hypospadias	hypospadias, severe form//non-syndromic posterior hypospadias//perineal, scrotal or penoscrotal hypospadias	MAMLD1	MAMLD1	https://raresource.nih.gov/literature/disease/0016840	0016840		95706	C5231010		mastermind like domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior hypospadias"	59
Ectopic thyroid	aberrant thyroid//aberrant thyroid gland//abnormal thyroid location//ectopic thyroid gland//heteropic thyroid gland//thyroid ectopia	PAX8;NKX2-5	PAX8;NKX2-5	https://raresource.nih.gov/literature/disease/0016841	0016841		95712	C0266283		paired box 8; NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectopic thyroid"	479
Thyroid agenesis	athyreosis//athyroidal hypothyroidism//congenital absence of thyroid gland//congenital thyroid aplasia	TSHR;SLC26A4;PAX8;NKX2-5	TSHR;SLC26A4;PAX8;NKX2-5	https://raresource.nih.gov/literature/disease/0016842	0016842		95713	C0749420		thyroid stimulating hormone receptor; solute carrier family 26 member 4; paired box 8; NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid agenesis"	213
Familial thyroid dyshormonogenesis	nongoitrous hyperthyrotropinemia//thyroid dyshormonogenesis	DUOX2;DUOXA2;SLC5A5;TPO;IYD;TG	DUOX2;DUOXA2;SLC5A5;TPO;IYD;TG	https://raresource.nih.gov/literature/disease/0016843	0016843		95716	C4273748	C564766	dual oxidase 2; dual oxidase maturation factor 2; solute carrier family 5 member 5; thyroid peroxidase; iodotyrosine deiodinase; thyroglobulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial thyroid dyshormonogenesis"	115
Leydig cell hypoplasia due to complete LH resistance	46,xy disorder of sex development due to complete lh receptor inactivation//46,xy disorder of sex development due to complete lh resistance//46,xy disorder of sex development due to complete luteinizing hormone receptor inactivation//46,xy disorder of sex development due to complete luteinizing hormone resistance//46,xy dsd due to complete lh receptor inactivation//46,xy dsd due to complete lh resistance//46,xy dsd due to complete luteinizing hormone receptor inactivation//46,xy dsd due to complete luteinizing hormone resistance//leydig cell hypoplasia due to complete lh receptor inactivation//leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation//leydig cell hypoplasia due to complete luteinizing hormone resistance	LHCGR	LHCGR	https://raresource.nih.gov/literature/disease/0016851	0016851		96265	C5438974		luteinizing hormone/choriogonadotropin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leydig cell hypoplasia due to complete LH resistance"	None
Leydig cell hypoplasia due to partial LH resistance	46,xy disorder of sex developement due to partial lh receptor inactivation//46,xy disorder of sex developement due to partial lh resistance//46,xy disorder of sex developement due to partial luteinizing hormone resistance//46,xy disorder of sex development due to partial lh receptor inactivation//46,xy disorder of sex development due to partial lh resistance//46,xy disorder of sex development due to partial luteinizing hormone resistance//46,xy dsd due to partial lh receptor inactivation//46,xy dsd due to partial lh resistance//46,xy dsd due to partial luteinizing hormone resistance//leydig cell hypoplasia due to partial lh receptor inactivation//leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation//leydig cell hypoplasia due to partial luteinizing hormone resistance	LHCGR	LHCGR	https://raresource.nih.gov/literature/disease/0016852	0016852		96266	C5438975		luteinizing hormone/choriogonadotropin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leydig cell hypoplasia due to partial LH resistance"	None
Renal tubular dysgenesis of genetic origin	genetic renal tubular dysgenesis//renal tubular dysgenesis, ace-related//renal tubular dysgenesis, agt-related//renal tubular dysgenesis, agtr1-related//renal tubular dysgenesis, ren-related	ACE;REN;AGT;AGTR1	ACE;REN;AGT;AGTR1	https://raresource.nih.gov/literature/disease/0016854	0016854		97369	C5681536		angiotensin I converting enzyme; renin; angiotensinogen; angiotensin II receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal tubular dysgenesis of genetic origin"	None
Autosomal dominant Emery-Dreifuss muscular dystrophy	edmd2//emery-dreifuss muscular dystrophy, autosomal dominant	SYNE2;TMEM43;LMNA;SYNE1	SYNE2;TMEM43;LMNA;SYNE1	https://raresource.nih.gov/literature/disease/0016865	0016865		98853	CN293514		spectrin repeat containing nuclear envelope protein 2; transmembrane protein 43; lamin A/C; spectrin repeat containing nuclear envelope protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Emery-Dreifuss muscular dystrophy"	58
Southeast Asian ovalocytosis	elliptocytosis 4//he, stomatocytic//melanesian elliptocytosis//melanesian ovalocytosis//ovalocytosis, malaysian-melanesian-filipino type//ovalocytosis, sa type//sao//stomatocytic elliptocytosis//stomatocytic elliptocytosis, hereditary	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0016867	0016867	166900	98868	C1862322		solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Southeast Asian ovalocytosis"	250
Desmin-related myofibrillar myopathy	autosomal recessive limb-girdle muscular dystrophy caused by mutation in des//autosomal recessive limb-girdle muscular dystrophy type 2r//des autosomal recessive limb-girdle muscular dystrophy//des myofibrillar myopathy (disease)//desmin related myopathy (former name)//desmin storage myopathy (former name)//desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy//desminopathy//limb-girdle muscular dystrophy type 1d//mfm1//myofibrillar myopathy (disease) caused by mutation in des//myofibrillar myopathy 1//myofibrillar myopathy type 1//myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy//myopathy, myofibrillar, type 1	DES	DES	https://raresource.nih.gov/literature/disease/0016870	0016870	601419	98909	C1832370		desmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmin-related myofibrillar myopathy"	114
Myofibrillar myopathy 3	autosomal dominant distal myopathy caused by mutation in myot//autosomal dominant limb-girdle muscular dystrophy caused by mutation in myot//autosomal dominant limb-girdle muscular dystrophy type 1a//autosomal dominant spheroid body myopathy//distal myotilinopathy//lgmd1a//limb-girdle muscular dystrophy due to myotilin deficiency//mfm3//muscular dystrophy limb-girdle type 1a//muscular dystrophy, proximal, type 1a//myofibrillar myopathy type 3//myopathy, myofibrillar, type 3//myot autosomal dominant distal myopathy//myot autosomal dominant limb-girdle muscular dystrophy//myotilinopathy//proximal muscular dystrophy type 1a//spheroid body myopathy	MYOT	MYOT	https://raresource.nih.gov/literature/disease/0016871	0016871	609200		C3714934	C000598645;C535906;C563775	myotilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 3"	53
Huntington disease-like 2	hdl2//huntington disease-like type 2	JPH3	JPH3	https://raresource.nih.gov/literature/disease/0016874	0016874	606438	98934	C1847987	C564708	junctophilin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huntington disease-like 2"	38
Coloboma of choroid and retina		FZD5;SALL2;ABCB6;ACTG1;PAX6	FZD5;SALL2;ABCB6;ACTG1;PAX6	https://raresource.nih.gov/literature/disease/0016875	0016875		98942	C4708599		frizzled class receptor 5; spalt like transcription factor 2; ATP binding cassette subfamily B member 6 (LAN blood group); actin gamma 1; paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma of choroid and retina"	None
Complete cryptophthalmia	complete cryptophthalmos	FREM2	FREM2	https://raresource.nih.gov/literature/disease/0016876	0016876		98949	C5437887		FRAS1 related extracellular matrix 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complete cryptophthalmia"	7
Lisch epithelial corneal dystrophy	band-shaped and whorled microcystic//band-shaped and whorled microcystic corneal epithelial dystrophy//band-shaped and whorled microcystic dystrophy of corneal epithelium//band-shaped and whorled microcystic dystrophy of the corneal epithelium//corneal dystrophy, lisch epithelial, x-linked dominant//lecd	MCOLN1	MCOLN1	https://raresource.nih.gov/literature/disease/0016877	0016877	620763	98955	C2749050	C567588	mucolipin TRP cation channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lisch epithelial corneal dystrophy"	15
Fleck corneal dystrophy	cfd//corneal dystrophy, francois-neetens speckled or flecked//corneal fleck dystrophy//fcd//franc'ois-neetens speckled corneal dystrophy//francois-neetens speckled corneal dystrophy//françois-neetens speckled corneal dystrophy	PIKFYVE	PIKFYVE	https://raresource.nih.gov/literature/disease/0016879	0016879	121850	98970	C1562113	C563256	phosphoinositide kinase, FYVE-type zinc finger containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fleck corneal dystrophy"	1492
Posterior polymorphous corneal dystrophy	corneal dystrophy, hereditary polymorphous posterior//corneal dystrophy, posterior polymorphous//hereditary polymorphus posterior corneal dystrophy//polymorphous corneal dystrophy//polymorphous posterior corneal dystrophy//posterior polymorphous dystrophy//ppcd//schlichting dystrophy	GRHL2;OVOL2;COL8A2;ZEB1;VSX1	GRHL2;OVOL2;COL8A2;ZEB1;VSX1	https://raresource.nih.gov/literature/disease/0016882	0016882		98973	C0339284		grainyhead like transcription factor 2; ovo like zinc finger 2; collagen type VIII alpha 2 chain; zinc finger E-box binding homeobox 1; visual system homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior polymorphous corneal dystrophy"	238
Glaucoma of childhood	childhood glaucoma//childhood glaucoma (disease)//developmental glaucoma//glaucoma (disease) of childhood//infantile glaucoma//joag//juvenile glaucoma//juvenile open angle glaucoma//paediatric glaucoma//paediatric glaucoma (disease)//pediatric glaucoma//pediatric glaucoma (disease)	MYOC;EFEMP1	MYOC;EFEMP1	https://raresource.nih.gov/literature/disease/0016883	0016883		98977	C2981140		myocilin; EGF containing fibulin extracellular matrix protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma of childhood"	1048
Pulverulent cataract	coppock-like cataract//dusty cataract	VIM;CRYBB1;CRYGD;CRYBB2;CRYGC;GJA8;GJA3;MAF;BFSP2	VIM;CRYBB1;CRYGD;CRYBB2;CRYGC;GJA8;GJA3;MAF;BFSP2	https://raresource.nih.gov/literature/disease/0016884	0016884		98984	C1833118	C565133	vimentin; crystallin beta B1; crystallin gamma D; crystallin beta B2; crystallin gamma C; gap junction protein alpha 8; gap junction protein alpha 3; MAF bZIP transcription factor; beaded filament structural protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulverulent cataract"	21
Early-onset sutural cataract	early-onset cataract with y-shaped suture opacities	GJA8;MIP;CRYBB2;BFSP2;CRYBA1;CRYGS	GJA8;MIP;CRYBB2;BFSP2;CRYBA1;CRYGS	https://raresource.nih.gov/literature/disease/0016885	0016885		98985	CN294270		gap junction protein alpha 8; major intrinsic protein of lens fiber; crystallin beta B2; beaded filament structural protein 2; crystallin beta A1; crystallin gamma S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset sutural cataract"	None
Early-onset nuclear cataract		MIP;CRYGD;EPHA2;FYCO1;CRYBB2;WFS1;CRYBA2;CRYBB1;CRYBB3;BFSP1;CRYAB;GJA8;CRYBA1;CRYAA;CRYGC;UNC45B;GJA3;NHS	MIP;CRYGD;EPHA2;FYCO1;CRYBB2;WFS1;CRYBA2;CRYBB1;CRYBB3;BFSP1;CRYAB;GJA8;CRYBA1;CRYAA;CRYGC;UNC45B;GJA3;NHS	https://raresource.nih.gov/literature/disease/0016887	0016887		98991	C5681644	C563333	major intrinsic protein of lens fiber; crystallin gamma D; EPH receptor A2; FYVE and coiled-coil domain autophagy adaptor 1; crystallin beta B2; wolframin ER transmembrane glycoprotein; crystallin beta A2; crystallin beta B1; crystallin beta B3; beaded filament structural protein 1; crystallin alpha B; gap junction protein alpha 8; crystallin beta A1; crystallin alpha A; crystallin gamma C; unc-45 myosin chaperone B; gap junction protein alpha 3; NHS actin remodeling regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset nuclear cataract"	None
Posterior subcapsular cataract	early-onset posterior polar cataract//posterior subcapsular cataracts//posterior subcapsular lens opacity//posterior subcapsular opacities of the lens//psc - posterior subcapsular cataract	PANK4;GJA3;CRYBA1;EPHA2;MIP;CHMP4B;CRYAB;PITX3	PANK4;GJA3;CRYBA1;EPHA2;MIP;CHMP4B;CRYAB;PITX3	https://raresource.nih.gov/literature/disease/0016889	0016889		98993	C0858617		pantothenate kinase 4 (inactive); gap junction protein alpha 3; crystallin beta A1; EPH receptor A2; major intrinsic protein of lens fiber; charged multivesicular body protein 4B; crystallin alpha B; paired like homeodomain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior subcapsular cataract"	815
Butterfly-shaped pigment dystrophy	butterfly-shaped pattern dystrophy//butterfly-shaped pigmentary macular dystrophy	OTX2;CTNNA1;PRPH2	OTX2;CTNNA1;PRPH2	https://raresource.nih.gov/literature/disease/0016890	0016890		99001	C4511237		orthodenticle homeobox 2; catenin alpha 1; peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Butterfly-shaped pigment dystrophy"	13
Reticular dystrophy of the retinal pigment epithelium	reticular dystrophy of retinal pigment epithelium	RCBTB1	RCBTB1	https://raresource.nih.gov/literature/disease/0016891	0016891	179840	99002	C1867332	C566721	RCC1 and BTB domain containing protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reticular dystrophy of the retinal pigment epithelium"	7
Complete atrioventricular canal-ventricle hypoplasia syndrome	cavc type b//cavc with ventricular hypoplasia//cavc-ventricle hypoplasia syndrome//complete atrioventricular canal defect with ventricular hypoplasia//complete atrioventricular canal type b//complete atrioventricular septal defect with ventricular hypoplasia//complete atrioventricular septal defect with ventricular imbalance//complete avsd with ventricular hypoplasia//unbalanced complete atrioventricular canal	GATA6;GATA4	GATA6;GATA4	https://raresource.nih.gov/literature/disease/0016893	0016893		99067	C5680290		GATA binding protein 6; GATA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complete atrioventricular canal-ventricle hypoplasia syndrome"	2
Complete atrioventricular canal-tetralogy of fallot syndrome	cavc type c//cavc-fallot tetralogy syndrome//cavc-tetralogy of fallot//complete atrioventricular canal defect-tetralogy of fallot//complete atrioventricular canal type c//complete atrioventricular septal defect-tetralogy of fallot//complete avsd-tetralogy of fallot	GATA4	GATA4	https://raresource.nih.gov/literature/disease/0016894	0016894		99068	C3640086		GATA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complete atrioventricular canal-tetralogy of fallot syndrome"	1
Lymphedema-posterior choanal atresia syndrome		PTPN14	PTPN14	https://raresource.nih.gov/literature/disease/0016898	0016898	613611	99141	C3150875		protein tyrosine phosphatase non-receptor type 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphedema-posterior choanal atresia syndrome"	None
Familial medullary thyroid carcinoma	familial mtc//hereditary medullary thyroid gland carcinoma//hereditary thyroid medullary carcinoma//mtc//mtc, familial//ntrk1-related familial medullary thyroid carcinoma//thyroid cancer, familial medullary//thyroid carcinoma, familial medullary	RET	RET	https://raresource.nih.gov/literature/disease/0016901	0016901	155240	99361	C1833921	C536911	ret proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial medullary thyroid carcinoma"	3774
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	mc-hga//metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria//metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria//spondyloenchondromatosis with d-2-hydroxyglutaric aciduria	IDH1	IDH1	https://raresource.nih.gov/literature/disease/0016902	0016902	614875	99646	C3553958		isocitrate dehydrogenase (NADP(+)) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"	4
Myotonia fluctuans	exercise induced delayed onset myotonia//exercise-induced delayed-onset myotonia//fluctuating myotonia//mf	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0016904	0016904		99734	C0752355		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myotonia fluctuans"	4674
Myotonia permanens		SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0016905	0016905		99735	C5848361		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myotonia permanens"	12
Acetazolamide-responsive myotonia	acetazolamide-responsive congenital myotonia//acz-responsive congenital myotonia//acz-responsive myotonia//myotonia-painful contractions syndrome//painful congenital myotonia//painful myotonia	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0016906	0016906		99736	C4275008		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acetazolamide-responsive myotonia"	10
Hypodontia	failure of development of between one and six teeth//familial tooth agenesis//missing between one and six teeth//oligodontia//partial anodontia//partial congenital absence of teeth//selective tooth agenesis//tooth agenesis//tooth agenesis, familial//tooth agenesis, selective	TGFA;WNT10A;GREM2;IRF6;FGFR1;MSX1;LRP6;PAX9;EDA;EDARADD;WNT10B	TGFA;WNT10A;GREM2;IRF6;FGFR1;MSX1;LRP6;PAX9;EDA;EDARADD;WNT10B	https://raresource.nih.gov/literature/disease/0016908	0016908		99798	C0020608		transforming growth factor alpha; Wnt family member 10A; gremlin 2, DAN family BMP antagonist; interferon regulatory factor 6; fibroblast growth factor receptor 1; msh homeobox 1; LDL receptor related protein 6; paired box 9; ectodysplasin A; EDAR associated via death domain; Wnt family member 10B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypodontia"	2720
Haddad syndrome	congenital central alveolar hypoventilation with hirschsprung disease syndrome//congenital central alveolar hypoventilation-hirschsprung disease syndrome//ohd//ondine hirschsprung disease//ondine hirschsprung syndrome//ondine-hirschsprung disease//ondine-hirschsprung syndrome	RET;ASCL1;PHOX2B	RET;ASCL1;PHOX2B	https://raresource.nih.gov/literature/disease/0016909	0016909		99803	C1859049		ret proto-oncogene; achaete-scute family bHLH transcription factor 1; paired like homeobox 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Haddad syndrome"	104
PEHO-like syndrome	peho syndrome-like//pehol (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome//progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	CCDC88A	CCDC88A	https://raresource.nih.gov/literature/disease/0016911	0016911	617507	99807	C1850056		coiled-coil domain containing 88A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PEHO-like syndrome"	15
Familial gestational hyperthyroidism		TSHR	TSHR	https://raresource.nih.gov/literature/disease/0016913	0016913	603373	99819	C1863959	C566384	thyroid stimulating hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial gestational hyperthyroidism"	6
Hypothyroidism, congenital, nongoitrous, 7	central hypothyroidism due to trh receptor deficiency//chng7//congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency//resistance to thyrotropin-releasing hormone syndrome//thyrotropin-releasing hormone resistance, generalized//trh (thyrotropin-releasing hormone) resistance syndrome//trh resistance syndrome	TRHR	TRHR	https://raresource.nih.gov/literature/disease/0016914	0016914	618573	99832	C1861106		thyrotropin releasing hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism, congenital, nongoitrous, 7"	None
Leukocyte adhesion deficiency 3	fermt3 leukocyte adhesion deficiency//iadd//integrin activation deficiency disease//lad-1 (leukocyte adhesion deficiency-1) variant//lad-1 variant//lad-iii//lad-iii - leukocyte adhesion deficiency type iii//lad1 variant//lad1v//lad3//leukocyte adhesion deficiency 1 variant//leukocyte adhesion deficiency caused by mutation in fermt3//leukocyte adhesion deficiency type 3//leukocyte adhesion deficiency type iii//leukocyte adhesion deficiency, type iii//leukocyte adhesion deficiency-1 variant	FERMT3	FERMT3	https://raresource.nih.gov/literature/disease/0016915	0016915	612840	99844	C2748536	C567555	FERM domain containing kindlin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukocyte adhesion deficiency 3"	58
Hereditary recurrent myoglobinuria	genetic recurrent myoglobinuria	LPIN1;OBSCN;MT-CO3;MT-CO1	LPIN1;OBSCN;MT-CO3;MT-CO1	https://raresource.nih.gov/literature/disease/0016916	0016916		99845	C4274324		lipin 1; obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF; mitochondrially encoded cytochrome c oxidase III; mitochondrially encoded cytochrome c oxidase I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary recurrent myoglobinuria"	None
Leukoencephalopathy with vanishing white matter 1	cach//childhood ataxia with central nervous system hypomyelinization//cree leukoencephalopathy//vanishing white matter leukodystrophy//vwm1	EIF2B1	EIF2B1	https://raresource.nih.gov/literature/disease/0016919	0016919		99854	C5779972		eukaryotic translation initiation factor 2B subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with vanishing white matter 1"	41
Familial isolated hyperparathyroidism	fihp//fihpt//fihpt - familial isolated hyperparathyroidism	CDC73;MEN1;GCM2	CDC73;MEN1;GCM2	https://raresource.nih.gov/literature/disease/0016923	0016923		99879	C4551961		cell division cycle 73; menin 1; glial cells missing transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated hyperparathyroidism"	109
Charcot-Marie-Tooth disease type 2A2	autosomal dominant axonal charcot-marie-tooth disease type 2a2//autosomal dominant charcot-marie-tooth disease type 2a2//charcot-marie-tooth disease type 2 caused by mutation in mfn2//charcot-marie-tooth disease type 2a2a//charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a//charcot-marie-tooth disease, axonal, type 2a2//charcot-marie-tooth disease, axonal, type 2a2a//charcot-marie-tooth disease, neuronal, type 2a2//charcot-marie-tooth neuronal type 2a2//charcot-marie-tooth neuropathy type 2a2//cmt2a2//hereditary motor and sensory neuropathy iia2//hmsn iia2//hmsn2a2//mfn2 charcot-marie-tooth disease type 2	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0016925	0016925	609260	99947	C4721887	C563757	mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2A2"	9
Atypical teratoid rhabdoid tumor	at/rt//atrt//att/rht//atypical teratoid/rhabdoid tumor (morphologic abnormality)//atypical teratoid/rhabdoid tumor (who grade iv)//atypical teratoid/rhabdoid tumour//atypical teratoid/rhabdoid tumour (morphologic abnormality)//atypical teratoid/rhabdoid tumour (who grade iv)//central nervous system rhabdoid neoplasm//central nervous system rhabdoid tumor//central nervous system rhabdoid tumour//cns rhabdoid neoplasm//cns rhabdoid tumor//cns rhabdoid tumour//malignant brain rhabdoid neoplasm//malignant brain rhabdoid tumor//malignant brain rhabdoid tumour//malignant rhabdoid neoplasm of brain//malignant rhabdoid neoplasm of the brain//malignant rhabdoid tumor of brain//malignant rhabdoid tumor of the brain//malignant rhabdoid tumour of brain//malignant rhabdoid tumour of the brain//primary malignant brain rhabdoid neoplasm//primary malignant brain rhabdoid tumor//primary malignant brain rhabdoid tumour//primary malignant rhabdoid neoplasm of brain//primary malignant rhabdoid neoplasm of the brain//primary malignant rhabdoid tumor of brain//primary malignant rhabdoid tumor of the brain//primary malignant rhabdoid tumour of brain//primary malignant rhabdoid tumour of the brain//rhabdoid neoplasm of central nervous system//rhabdoid neoplasm of cns//rhabdoid neoplasm of the central nervous system//rhabdoid neoplasm of the cns//rhabdoid tumor of central nervous system//rhabdoid tumor of cns//rhabdoid tumor of the central nervous system//rhabdoid tumor of the cns//rhabdoid tumour of central nervous system//rhabdoid tumour of cns//rhabdoid tumour of the central nervous system//rhabdoid tumour of the cns	SMARCB1	SMARCB1	https://raresource.nih.gov/literature/disease/0016926	0016926		99966	C1266184		SWI/SNF related BAF chromatin remodeling complex subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical teratoid rhabdoid tumor"	929
ABeta amyloidosis, dutch type	abetae22q amyloidosis//amyloidosis, hereditary, with cerebral hemorrhage, dutch variant//cerebral amyloid angiopathy, app-related, dutch variant//dutch type amyloidosis//hchwa, dutch type//hchwa-d//hereditary cerebral amyloid angiopathy, dutch type//hereditary cerebral haemorrhage with amyloidosis, dutch type//hereditary cerebral hemorrhage with amyloidosis, dutch type	APP	APP	https://raresource.nih.gov/literature/disease/0016929	0016929		100006	C2931672		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABeta amyloidosis, dutch type"	77
Hereditary cerebral amyloid angiopathy, Icelandic type	acys amyloidosis//amyloidosis vi//amyloidosis, cerebroarterial, icelandic type//cerebral amyloid angiopathy, cst3-related//cerebral hemorrhage, hereditary, with amyloidosis//cst3-related amyloidosis//cystatin amyloidosis//hchwa, icelandic type//hereditary cerebral haemorrhage with amyloidosis//hereditary cerebral haemorrhage with amyloidosis, icelandic type//hereditary cerebral hemorrhage with amyloidosis - icelandic type//hereditary cerebral hemorrhage with amyloidosis, icelandic type//hereditary cystatin c amyloid angiopathy//iceland type amyloidosis//icelandic type amyloidosis	CST3	CST3	https://raresource.nih.gov/literature/disease/0016930	0016930	105150	100008	C1527338		cystatin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary cerebral amyloid angiopathy, Icelandic type"	59
Amelogenesis imperfecta, hypocalcification type	amelogenesis imperfecta - hypocalcified//amelogenesis imperfecta - hypomineralization//amelogenesis imperfecta type 3//amelogenesis imperfecta, hypocalcification type, autosomal dominant//amelogenesis imperfecta, hypomineralization type//amelogenesis imperfecta, type iii//hypocalcified amelogenesis imperfecta	ITGB6;FAM83H;SLC24A4;AMTN	ITGB6;FAM83H;SLC24A4;AMTN	https://raresource.nih.gov/literature/disease/0016931	0016931		100032	C0399376		integrin subunit beta 6; family with sequence similarity 83 member H; solute carrier family 24 member 4; amelotin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, hypocalcification type"	23
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	ai4//aihht//amelogenesis imperfecta caused by mutation in dlx3//amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism//amelogenesis imperfecta type 4//amelogenesis imperfecta, type iv//dlx3 amelogenesis imperfecta	DLX3	DLX3	https://raresource.nih.gov/literature/disease/0016932	0016932	104510	100034	C1863012	C566293	distal-less homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"	5
Hereditary angioedema type 1	hae 1//hae-i//hae1//hereditary angioneurotic edema type 1//hereditary angioneurotic oedema type 1	SERPING1	SERPING1	https://raresource.nih.gov/literature/disease/0016933	0016933		100050	C2717906		serpin family G member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary angioedema type 1"	12
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	c1 esterase inhibitor deficiency - type 2//hae 2//hae-ii//hae2//hereditary angioedema - type 2//hereditary angioedema type 2//hereditary angioneurotic edema - type 2//hereditary angioneurotic edema type 2//hereditary angioneurotic oedema type 2//hereditary c1 esterase inactivity	SERPING1	SERPING1	https://raresource.nih.gov/literature/disease/0016934	0016934		100051	C0398776		serpin family G member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary C1 esterase inhibitor deficiency - dysfunctional factor"	5
Hereditary angioedema type 3	angioedema, hereditary, 3//angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function//estrogen-related hae//estrogen-sensitive hae//f12 hereditary angioedema//f12-related hae with normal c1 inhibitor//f12-related hereditary angioedema with normal c1inh//hae 3//hae with normal c1 inhibitor concentration and function//hae-iii//hae3//hereditary angioedema caused by mutation in f12//hereditary angioneurotic edema type 3//hereditary angioneurotic oedema type 3//inherited estrogen-associated angioedema//inherited estrogen-associated angioneurotic edema//inherited estrogen-associated angioneurotic oedema//inherited estrogen-dependent angioedema//inherited estrogen-dependent angioneurotic edema//inherited estrogen-dependent angioneurotic oedema	F12	F12	https://raresource.nih.gov/literature/disease/0016935	0016935	610618	100054	C1857728	D056828	coagulation factor XII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary angioedema type 3"	2
Porphobilinogen synthase deficiency	acute hepatic porphyria//ala dehydratase deficiency porphyria//alad porphyria//alad-related porphyria//aladh deficiency//delta-aminolevulinate dehydrase deficiency//doss porphyria//hereditary delta-aminolevulinic aciduria//porphyria due to ala dehydratase deficiency//porphyria due to alad deficiency//porphyria due to delta-aminolevulinate dehydratase deficiency//porphyria of doss//porphyria, acute hepatic//porphyria, alad	ALAD	ALAD	https://raresource.nih.gov/literature/disease/0016937	0016937	612740	100924	C0268328	C562618	aminolevulinate dehydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porphobilinogen synthase deficiency"	247
Bathing suit ichthyosis	bsi	TGM1	TGM1	https://raresource.nih.gov/literature/disease/0016938	0016938		100976	C4511230		transglutaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bathing suit ichthyosis"	3052
Mast syndrome	autosomal recessive spastic paraplegia 21//autosomal recessive spastic paraplegia type 21//hereditary spastic paraplegia 21//spastic paraplegia 21, autosomal recessive//spg21	SPG21	SPG21	https://raresource.nih.gov/literature/disease/0016939	0016939	248900	101001	C1855346	C565409	SPG21 abhydrolase domain containing, maspardin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mast syndrome"	13
Hereditary spastic paraplegia 28	autosomal recessive pure spastic paraplegia caused by mutation in ddhd1//autosomal recessive spastic paraplegia 28//autosomal recessive spastic paraplegia type 28//ddhd1 autosomal recessive pure spastic paraplegia//hereditary spastic paraplegia type 28//spastic paraplegia 28, autosomal recessive//spg28	DDHD1	DDHD1	https://raresource.nih.gov/literature/disease/0016941	0016941	609340	101008	C1836295	C563732	DDHD domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 28"	6
Hereditary spastic paraplegia 30	autosomal recessive spastic paraplegia 30//autosomal spastic paraplegia type 30//hereditary spastic paraplegia caused by mutation in kif1a//hereditary spastic paraplegia type 30//kif1a hereditary spastic paraplegia//spastic paraplegia 30//spastic paraplegia 30, autosomal dominant//spastic paraplegia 30a, autosomal dominant//spg30	KIF1A	KIF1A	https://raresource.nih.gov/literature/disease/0016942	0016942	610357	101010	C5235139	C563677	kinesin family member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 30"	7
Congenital stromal corneal dystrophy	congenital hereditary stromal dystrophy//cscd//decorin associated congenital stromal corneal dystrophy//dystrophia corneae parenchymatosa congenita//witschel dystrophy	DCN	DCN	https://raresource.nih.gov/literature/disease/0016943	0016943	610048	101068	C1864738	C566452	decorin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stromal corneal dystrophy"	24
Familial isolated congenital asplenia	asplenia, familial//asplenia, isolated congenital//congenital hypoplasia of spleen//congenital microsplenia//congenital small spleen//hypoplasia of spleen//hyposplenia, isolated congenital	RPSA	RPSA	https://raresource.nih.gov/literature/disease/0016944	0016944	271400	101351	C0685889	C563028	ribosomal protein SA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated congenital asplenia"	2
Congenital sodium diarrhea	congenital secretory diarrhea, sodium type//defective na^+^/h^+^ exchange in jejunum and/or ileum//na-h exchange deficiency//non-syndromic congenital sodium diarrhea	SLC9A3;GUCY2C	SLC9A3;GUCY2C	https://raresource.nih.gov/literature/disease/0016945	0016945		103908	C0267663		solute carrier family 9 member A3; guanylate cyclase 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital sodium diarrhea"	29
Tropical pancreatitis	tcp//tropical calcific chronic pancreatitis	SPINK1	SPINK1	https://raresource.nih.gov/literature/disease/0016946	0016946	608189	103918	C1842402	C564276	serine peptidase inhibitor Kazal type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tropical pancreatitis"	220
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	4h syndrome//ataxia, delayed dentition, and hypomyelination//ataxia, delayed dentition, hypomyelination syndrome//ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy//hld7//hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism//leukodystrophy with oligodontia//leukodystrophy, hypomyelinating, 7, with oligodontia//leukodystrophy, hypomyelinating, 7, with oligodontia and hypogonadotropic hypogonadism//leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism//leukodystrophy, hypomyelinating, 7, without oligodontia or hypogonadotropic hypogonadism//leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism//leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition	POLR3B;POLR3A	POLR3B;POLR3A	https://raresource.nih.gov/literature/disease/0016948	0016948	607694		C4706676		RNA polymerase III subunit B; RNA polymerase III subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome"	29
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	combined oxidative phosphorylation deficiency caused by mutation in gfm1//combined oxidative phosphorylation deficiency type 1//gfm1 combined oxidative phosphorylation deficiency//hepatoencephalopathy due to coxpd1//hepatoencephalopathy, early fatal progressive	GFM1	GFM1	https://raresource.nih.gov/literature/disease/0016949	0016949	609060	137681	C1836797	C563797	G elongation factor mitochondrial 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"	1
Hypotonia with lactic acidemia and hyperammonemia	combined oxidative phosphorylation defect type 5//combined oxidative phosphorylation deficiency caused by mutation in mrps22//combined oxidative phosphorylation deficiency type 5//coxpd5//coxpd5 - combined oxidative phosphorylation defect 5//mrps22 combined oxidative phosphorylation deficiency	MRPS22	MRPS22	https://raresource.nih.gov/literature/disease/0016950	0016950	611719	137908	C2673642	C567126	mitochondrial ribosomal protein S22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia with lactic acidemia and hyperammonemia"	None
Distal hereditary motor neuropathy type 2	dhmn2//distal spinal muscular atrophy type 2//dsma2	HSPB1;FBXO38;HSPB3;HSPB8	HSPB1;FBXO38;HSPB3;HSPB8	https://raresource.nih.gov/literature/disease/0016954	0016954		139525	C3711384	C580044	heat shock protein family B (small) member 1; F-box protein 38; heat shock protein family B (small) member 3; heat shock protein family B (small) member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal hereditary motor neuropathy type 2"	5
Neuronopathy, distal hereditary motor, type 5	dhmn5//dhmn5 - distal hereditary motor neuropathy type 5//distal hereditary motor neuropathy type 5//distal hereditary motor neuropathy type v//distal hmn v//distal spinal muscular atrophy type 5//hmn 5a//neuronopathy, distal hereditary motor, harding type v//neuronopathy, distal hereditary motor, harding type va//neuropathy, distal hereditary motor, harding type va//spinal muscular atrophy, distal, harding type v//spinal muscular atrophy, distal, harding type va	GARS1;BSCL2;REEP1	GARS1;BSCL2;REEP1	https://raresource.nih.gov/literature/disease/0016955	0016955		139536	C1833308	C563443	glycyl-tRNA synthetase 1; BSCL2 lipid droplet biogenesis associated, seipin; receptor accessory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 5"	22
X-linked distal spinal muscular atrophy type 3	atp7a (atpase copper transporting alpha) related distal motor neuropathy//atp7a spinal muscular atrophy//atp7a-related distal motor neuropathy//dsmax//neuronopathy, distal hereditary motor, x-linked//neuropathy, distal hereditary motor, x-linked//smax3//spinal muscular atrophy caused by mutation in atp7a//spinal muscular atrophy, distal, x-linked 3, x-linked recessive//spinal muscular atrophy, distal, x-linked recessive//spinal muscular atrophy, distal, x-linked type 3//x-linked dhmn type 3//x-linked dhmn3//x-linked distal hereditary motor neuropathy type 3//x-linked dsma type 3//x-linked dsma3	ATP7A	ATP7A	https://raresource.nih.gov/literature/disease/0016957	0016957	300489	139557	C1845359	C564506	ATPase copper transporting alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked distal spinal muscular atrophy type 3"	10
Hereditary sensory and autonomic neuropathy with spastic paraplegia	autosomal recessive sensory neuropathy with spastic paraplegia//hsan with spastic paraplegia//hsnsp//mutilating hereditary sensory neuropathy with spastic paraplegia//mutilating hsan with spastic paraplegia	CCT5	CCT5	https://raresource.nih.gov/literature/disease/0016959	0016959	256840	139578	C1850395	C564948	chaperonin containing TCP1 subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy with spastic paraplegia"	None
Distal hereditary motor neuropathy type 7	dhmn7//distal spinal muscular atrophy with vocal cord paralysis	SLC5A7;DCTN1	SLC5A7;DCTN1	https://raresource.nih.gov/literature/disease/0016960	0016960		139589	C4749653		solute carrier family 5 member 7; dynactin subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal hereditary motor neuropathy type 7"	1
Primary intraosseous venous malformation	hemangioma, intraosseous//intraosseous hemangioma//osseous venous malformation//vascular malformation osseous//vascular malformation, primary intraosseous	ELMO2	ELMO2	https://raresource.nih.gov/literature/disease/0016961	0016961	606893	140436	C1847197	C564648	engulfment and cell motility 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary intraosseous venous malformation"	93
Autosomal dominant slowed nerve conduction velocity	slowed nerve conduction velocity, ad	ARHGEF10	ARHGEF10	https://raresource.nih.gov/literature/disease/0016962	0016962	608236	140481	C1842357	C564269	Rho guanine nucleotide exchange factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant slowed nerve conduction velocity"	None
Brachydactyly type B2	bdb2	NOG	NOG	https://raresource.nih.gov/literature/disease/0016963	0016963	611377	140908	C1969652		noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type B2"	8
Short stature due to primary acid-labile subunit deficiency	acid-labile subunit deficiency//acid-labile subunit, deficiency of	IGFALS	IGFALS	https://raresource.nih.gov/literature/disease/0016964	0016964	615961	140941	C3900122		insulin like growth factor binding protein acid labile subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature due to primary acid-labile subunit deficiency"	10
Autosomal dominant macrothrombocytopenia		TUBA8;GFI1B;TRPM7;ACTN1;ITGB3;TPM4;ITGA2B;TUBB1;GP1BA;GP1BB	TUBA8;GFI1B;TRPM7;ACTN1;ITGB3;TPM4;ITGA2B;TUBB1;GP1BA;GP1BB	https://raresource.nih.gov/literature/disease/0016965	0016965		140957	C4304021		tubulin alpha 8; growth factor independent 1B transcriptional repressor; transient receptor potential cation channel subfamily M member 7; actinin alpha 1; integrin subunit beta 3; tropomyosin 4; integrin subunit alpha 2b; tubulin beta 1 class VI; glycoprotein Ib platelet subunit alpha; glycoprotein Ib platelet subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant macrothrombocytopenia"	25
Bilateral microtia-deafness-cleft palate syndrome	bilateral microtia-hearing loss-cleft palate syndrome//microtia with or without hearing impairment (ad)//microtia, hearing impairment, and cleft palate (ar)	HOXA2	HOXA2	https://raresource.nih.gov/literature/disease/0016966	0016966	612290	140963	C2676772	C567359	homeobox A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral microtia-deafness-cleft palate syndrome"	None
Palmoplantar keratoderma, Nagashima type	palmoplantar hyperkeratosis, nagashima type//ppk, nagashima type	SERPINB7	SERPINB7	https://raresource.nih.gov/literature/disease/0016967	0016967	615598	140966	C3810072		serpin family B member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma, Nagashima type"	None
Tessier number 4 facial cleft	facial clefting, oblique, type 1	SPECC1L	SPECC1L	https://raresource.nih.gov/literature/disease/0016974	0016974		141258	C4703420		sperm antigen with calponin homology and coiled-coil domains 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tessier number 4 facial cleft"	None
Commissural facial cleft	commissural cleft, isolated//lateral cleft, isolated//macrostomia//macrostomia, isolated//tessier number 7 facial cleft//transverse cleft, isolated//transverse facial cleft	SPECC1L;PTCH2	SPECC1L;PTCH2	https://raresource.nih.gov/literature/disease/0016975	0016975	613545	141276	C3150792	D008265	sperm antigen with calponin homology and coiled-coil domains 1 like; patched 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Commissural facial cleft"	226
Autosomal recessive hypophosphatemic bone disease	hereditary hypophosphatemic rickets with hypercalciuria//hhrh//hhrh - hereditary hypophosphatemic rickets with hypercalciuria//hypercalciuric hypophosphatemic rickets//hypercalciuric rickets//hypophosphatemic hypercalciuric rickets//hypophosphatemic rickets with hypercalciuria	SLC34A3	SLC34A3	https://raresource.nih.gov/literature/disease/0016977	0016977	241530	157215	C1853271	C562793	solute carrier family 34 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive hypophosphatemic bone disease"	74
Congenital or early infantile CACH syndrome		EIF2B5;EIF2B2;EIF2B1;EIF2B3;EIF2B4	EIF2B5;EIF2B2;EIF2B1;EIF2B3;EIF2B4	https://raresource.nih.gov/literature/disease/0016978	0016978		157713	C5680650		eukaryotic translation initiation factor 2B subunit epsilon; eukaryotic translation initiation factor 2B subunit beta; eukaryotic translation initiation factor 2B subunit alpha; eukaryotic translation initiation factor 2B subunit gamma; eukaryotic translation initiation factor 2B subunit delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital or early infantile CACH syndrome"	None
Late infantile CACH syndrome		EIF2B2;EIF2B5;EIF2B4;EIF2B1;EIF2B3	EIF2B2;EIF2B5;EIF2B4;EIF2B1;EIF2B3	https://raresource.nih.gov/literature/disease/0016979	0016979		157716	C5680648		eukaryotic translation initiation factor 2B subunit beta; eukaryotic translation initiation factor 2B subunit epsilon; eukaryotic translation initiation factor 2B subunit delta; eukaryotic translation initiation factor 2B subunit alpha; eukaryotic translation initiation factor 2B subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late infantile CACH syndrome"	None
Juvenile or adult CACH syndrome		EIF2B3;EIF2B1;EIF2B4;EIF2B5;EIF2B2	EIF2B3;EIF2B1;EIF2B4;EIF2B5;EIF2B2	https://raresource.nih.gov/literature/disease/0016980	0016980		157719	C5680649		eukaryotic translation initiation factor 2B subunit gamma; eukaryotic translation initiation factor 2B subunit alpha; eukaryotic translation initiation factor 2B subunit delta; eukaryotic translation initiation factor 2B subunit epsilon; eukaryotic translation initiation factor 2B subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile or adult CACH syndrome"	None
Hereditary mixed polyposis syndrome	hereditary mixed polyposis//hmps//hmps - hereditary mixed polyposis syndrome	BMPR1A;GREM1	BMPR1A;GREM1	https://raresource.nih.gov/literature/disease/0016981	0016981		157794	C5192681	C563365	bone morphogenetic protein receptor type 1A; gremlin 1, DAN family BMP antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary mixed polyposis syndrome"	48
Hyperplastic polyposis syndrome	serrated polyposis//serrated polyposis syndrome	RNF43	RNF43	https://raresource.nih.gov/literature/disease/0016982	0016982		157798	C4296896		ring finger protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperplastic polyposis syndrome"	221
Cold-induced sweating syndrome	ciliary neurotrophic factor receptor-related disorder//ciss//crisponi syndrome//sohar-crisponi syndrome	KLHL7;CRLF1;CLCF1	KLHL7;CRLF1;CLCF1	https://raresource.nih.gov/literature/disease/0016983	0016983		157820	C1832409		kelch like family member 7; cytokine receptor like factor 1; cardiotrophin like cytokine factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cold-induced sweating syndrome"	54
Huntington disease-like 1	autosomal dominant huntington-like neurodegenerative disorder//early-onset prion disease with prominent psychiatric features//hdl1//hdl1 - huntington disease-like 1//hln1//huntington disease-like type 1//huntington-like neurodegenerative disorder 1//huntington-like neurodegenerative disorder, autosomal dominant//neurodegenerative disease with chorea caused by mutation in prnp//prion disease, early-onset, with prominent psychiatric features//prnp neurodegenerative disease with chorea	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0016985	0016985	603218	157941	C1864112	C566398	prion protein (Kanno blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huntington disease-like 1"	1
ANE syndrome	alopecia, progressive neurological defect, endocrinopathy syndrome//alopecia-progressive neurological defect-endocrinopathy syndrome//ane (alopecia, progressive neurological defect, endocrinopathy) syndrome	RBM28	RBM28	https://raresource.nih.gov/literature/disease/0016987	0016987	612079	157954	C2677535	C567425	RNA binding motif protein 28	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ANE syndrome"	5
Oculoauricular syndrome	microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear//ocacs//oculoauricular syndrome, schorderet type//schorderet-munier-franceschetti syndrome	HMX1	HMX1	https://raresource.nih.gov/literature/disease/0016988	0016988	612109	157962	C2677500	C567416	H6 family homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculoauricular syndrome"	3
Epidermolysis bullosa simplex with migratory circinate erythema	ebs with circinate migratory erythema//ebs-migr//epidermolysis bullosa simplex 2e, with migratory circinate erythema//epidermolysis bullosa simplex with circinate migratory erythema	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0016990	0016990	609352	158681	C1836284	C563730	keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex with migratory circinate erythema"	1
Epidermolysis bullosa simplex 5C, with pyloric atresia	ebs with pyloric atresia//ebs-pa//ebs5c//epidermolysis bullosa simplex co-occurrent with pyloric atresia//epidermolysis bullosa simplex with pyloric atresia//plec-related epidermolysis bullosa with pyloric atresia//plec1-related epidermolysis bullosa with pyloric atresia	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0016991	0016991	612138	158684	C2677349	C567408	plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 5C, with pyloric atresia"	7
Hemoglobin Bart hydrops syndrome	alpha thalassemia major//alpha-thalassemia hydrops fetalis//alpha-thalassemia major//haemoglobin bart's hydrops fetalis//hb bart's hydrops fetalis//hb bart’s hydrops fetalis caused by quadallelic variation in hba1;hba2//hb bart’s hydrops fetalis related to quadallelic variation in hba1 and hba2//hba1;hba2 digenic quadallelic hb bart’s hydrops fetalis//hemoglobin bart's disease//hemoglobin bart's hydrops fetalis//hemoglobin bart's hydrops syndrome//hemoglobin barts hydrops//homozygous alpha0-thalassemia//hydrops fetalis, alpha-thalassemia-related	HBA1;HBA2	HBA1;HBA2	https://raresource.nih.gov/literature/disease/0016992	0016992		163596	C0272005		hemoglobin subunit alpha 1; hemoglobin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin Bart hydrops syndrome"	190
Cortical dysplasia-focal epilepsy syndrome	cdfe syndrome//cdfes//cntnap2-related dee//cntnap2-related developmental and epileptic encephalopathy//pitt-hopkins like syndrome 1//pitt-hopkins-like syndrome 1//pthsl1	CNTNAP2	CNTNAP2	https://raresource.nih.gov/literature/disease/0016997	0016997	610042	163681	C2750246	C567657	contactin associated protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cortical dysplasia-focal epilepsy syndrome"	11
Action myoclonus-renal failure syndrome	amrf//amrf - action myoclonus renal failure//epilepsy, progressive myoclonic 4, with or without renal failure//epilepsy, progressive myoclonic, 4, with or without renal failure//epilepsy, progressive myoclonic, 4, with renal failure//epilepsy, progressive myoclonic, 4, without renal failure//epm4//myoclonus nephropathy syndrome//myoclonus-nephropathy syndrome//progressive myoclonic epilepsy type 4//progressive myoclonus epilepsy type 4	SCARB2	SCARB2	https://raresource.nih.gov/literature/disease/0017000	0017000	254900	163696	C0751779		scavenger receptor class B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Action myoclonus-renal failure syndrome"	30
Rolandic epilepsy-speech dyspraxia syndrome		GRIN2A;SRPX2	GRIN2A;SRPX2	https://raresource.nih.gov/literature/disease/0017002	0017002		163721	C4707308		glutamate ionotropic receptor NMDA type subunit 2A; sushi repeat containing protein X-linked 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rolandic epilepsy-speech dyspraxia syndrome"	None
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp//re-ped-wc//rolandic epilepsy exercise-induced dystonia	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0017003	0017003	608105	163727	C1842531	C535499	TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"	1
PCWH syndrome	neurologic waardenburg shah syndrome//neurologic waardenburg-shah syndrome//pcwh//pcwh - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease//peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease//peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease//peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-hirschsprung disease-waardenburg syndrome//peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease//waardenburg-shah syndrome, neurologic variant//ws4 plus	SOX10	SOX10	https://raresource.nih.gov/literature/disease/0017004	0017004	609136	163746	C1836727	C563789	SRY-box transcription factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PCWH syndrome"	23
Syndromic X-linked intellectual disability Nascimento type	intellectual developmental disorder, x-linked syndromic, nascimento type, x-linked recessive//intellectual developmental disorder, x-linked, syndromic, nascimento type//intellectual disability, x-linked syndromic, nascimento-type//mental retardation, x-linked syndromic, nascimento-type//mental retardation, x-linked, syndromic 30//mrxsn//x-linked intellectual disability, nascimento type//x-linked intellectual disability-nail dystrophy-seizures syndrome	UBE2A	UBE2A	https://raresource.nih.gov/literature/disease/0017005	0017005	300860	163956	C3275464		ubiquitin conjugating enzyme E2 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability Nascimento type"	1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia//chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, x-linked dominant//x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome	HDAC6	HDAC6	https://raresource.nih.gov/literature/disease/0017007	0017007	300863	163966	C3275476		histone deacetylase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked dominant chondrodysplasia, Chassaing-Lacombe type"	None
X-linked intellectual disability, van Esch type	mental retardation, x-linked, syndromic, van esch-o''driscoll type//mental retardation, x-linked, syndromic, van esch-o'driscoll type//van esch-o'driscoll syndrome//van esch-o'driscoll syndrome, x-linked recessive//veods	POLA1	POLA1	https://raresource.nih.gov/literature/disease/0017008	0017008	301030	163976	C4305072		DNA polymerase alpha 1, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, van Esch type"	3
Developmental and epileptic encephalopathy, 8	arhgef9-related hyperekplexia//dee8//early infantile epileptic encephalopathy 8//eiee8//epileptic encephalopathy, early infantile, 8//epileptic encephalopathy, early infantile, type 8//hyperekplexia and epilepsy//hyperekplexia-epilepsy syndrome	ARHGEF9	ARHGEF9	https://raresource.nih.gov/literature/disease/0017010	0017010	300607	163985	C1845102	C564474	Cdc42 guanine nucleotide exchange factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 8"	None
Multiple epiphyseal dysplasia, Beighton type	epiphyseal dysplasia, multiple, with myopia and deafness//multiple epiphyseal dysplasia-myopia-deafness syndrome	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0017012	0017012	132450		C1851536	C565046	collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia, Beighton type"	None
Multiple epiphyseal dysplasia, Al-Gazali type	macrocephaly with multiple epiphyseal dysplasia and distinctive facies//multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome	KIF7	KIF7	https://raresource.nih.gov/literature/disease/0017014	0017014	607131	166024	C1846722	C564621	kinesin family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia, Al-Gazali type"	None
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	brachydactyly-short stature-retinitis pigmentosa syndrome//retinitis pigmentosa with or without skeletal anomalies	CWC27	CWC27	https://raresource.nih.gov/literature/disease/0017017	0017017	250410	166035	C1855188	C565398	CWC27 spliceosome associated cyclophilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome"	None
Von Willebrand disease type 1	hereditary von willebrand disease type 1//von willebrand disease 1//von willebrand disease type i//von willebrand disease, type i//von willebrand's disease 1//von willebrand's disease type 1//vwd type 1//vwd, type 1//vwd1	VWF	VWF	https://raresource.nih.gov/literature/disease/0017019	0017019	193400	166078	C1264039	D056725	von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 1"	74
Von Willebrand disease type 2	hereditary von willebrand disease type 2//von willebrand disease 2//von willebrand disease type ii//von willebrand disease, type 2a/iie//von willebrand disease, type 2cb//von willebrand disease, type ii//von willebrand disease, types 2a, 2b, 2m, and 2n//von willebrand's disease 2//von willebrand's disease type 2//vwd type 2//vwd, type 2//vwd2	VWF	VWF	https://raresource.nih.gov/literature/disease/0017020	0017020	613554	166081	C1264040	D056728	von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 2"	38
Von Willebrand disease type 2A	hereditary von willebrand disease type 2a	VWF	VWF	https://raresource.nih.gov/literature/disease/0017021	0017021		166084	C1282968		von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 2A"	19
Von Willebrand disease type 2B	hereditary von willebrand disease type 2b	VWF	VWF	https://raresource.nih.gov/literature/disease/0017022	0017022		166087	C1282971		von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 2B"	27
Von Willebrand disease type 2M	vwd2m	VWF	VWF	https://raresource.nih.gov/literature/disease/0017023	0017023		166090	C1282974		von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 2M"	10
Von Willebrand disease type 2N	hereditary von willebrand disease type 2n//von willebrand disease normandy variant//vwd2n	VWF	VWF	https://raresource.nih.gov/literature/disease/0017024	0017024		166093	C1282975		von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 2N"	16
Von Willebrand disease type 3	hereditary von willebrand disease type 3//type 3 von willebrand's disease//type 3 vwd//v wd3//von willebrand disease 3//von willebrand disease type iii//von willebrand disease, severe form//von willebrand disease, type iii//von willebrand's disease 3//von willebrand's disease type 3//vwd type 3//vwd3	VWF	VWF	https://raresource.nih.gov/literature/disease/0017025	0017025	277480	166096	C1264041	D056729	von Willebrand factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Willebrand disease type 3"	250
FASTKD2-related infantile mitochondrial encephalomyopathy	fast kinase domains 2-related infantile mitochondrial encephalomyopathy	FASTKD2	FASTKD2	https://raresource.nih.gov/literature/disease/0017026	0017026		166105	C4755278		FAST kinase domains 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FASTKD2-related infantile mitochondrial encephalomyopathy"	None
Isolated osteopoikilosis	isolated osteopoikilosis (disease)//nonsyndromic osteopoikilosis (disease)	LEMD3	LEMD3	https://raresource.nih.gov/literature/disease/0017027	0017027		166119	C1833699		LEM domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated osteopoikilosis"	1
Hot water reflex epilepsy	epilepsy, hot water//hot water epilepsy	SLC1A1	SLC1A1	https://raresource.nih.gov/literature/disease/0017028	0017028		166412	C4706506		solute carrier family 1 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hot water reflex epilepsy"	81
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency//adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete//adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete//cholesterol side-chain cleavage deficiency//congenital adrenal insuffiency with 46, xy sex reversal or 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency//p450scc deficiency//xy sex reversal-adrenal failure//xy sex reversal-adrenal failure syndrome	CYP11A1	CYP11A1	https://raresource.nih.gov/literature/disease/0017033	0017033	613743	168558	C3151055	C566130	cytochrome P450 family 11 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"	15
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	46,xy gonadal dysgenesis with minifascicular neuropathy//46xy gonadal dysgenesis with minifascicular neuropathy	DHH	DHH	https://raresource.nih.gov/literature/disease/0017034	0017034	607080	168563	C5436061	C567773	desert hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"	None
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	combined oxidative phosphorylation deficiency 3//combined oxidative phosphorylation deficiency caused by mutation in tsfm//combined oxidative phosphorylation deficiency type 3//encephalomyopathy, respiratory failure, and lactic acidosis//fatal mitochondrial disease due to coxpd3//tsfm combined oxidative phosphorylation deficiency	TSFM	TSFM	https://raresource.nih.gov/literature/disease/0017035	0017035	610505	168566	C1864840	C566467	Ts translation elongation factor, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"	None
Hereditary cryohydrocytosis with reduced stomatin	chc type 2//glut1 deficiency syndrome with pseudohyperkalemia and hemolysis//hereditary cryohydrocytosis type 2//sdchc//stomatin-deficient cryohydrocytosis//stomatin-deficient cryohydrocytosis with neurologic defects	SLC2A1	SLC2A1	https://raresource.nih.gov/literature/disease/0017036	0017036	608885	168577	C1837206	C563840	solute carrier family 2 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary cryohydrocytosis with reduced stomatin"	6
Hereditary North American Indian childhood cirrhosis	naic - north american indian childhood cirrhosis//north american indian childhood cirrhosis	UTP4	UTP4	https://raresource.nih.gov/literature/disease/0017037	0017037	604901	168583	C1858051	C565737	UTP4 small subunit processome component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary North American Indian childhood cirrhosis"	3
Enterokinase deficiency	congenital enterokinase deficiency//congenital enteropathy due to enteropeptidase deficiency//deficiency of enterokinase//deficiency of enteropeptidase//enteropeptidase deficiency//intestinal enterokinase deficiency//intestinal enteropeptidase deficiency//intestinal pseudo-trypsinogen deficiency	TMPRSS15	TMPRSS15	https://raresource.nih.gov/literature/disease/0017038	0017038	226200	168601	C0268416	C562649	transmembrane serine protease 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Enterokinase deficiency"	28
Seborrhea-like dermatitis with psoriasiform elements		ZNF750	ZNF750	https://raresource.nih.gov/literature/disease/0017039	0017039	610227	168606	C1853258	C565217	zinc finger protein 750	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seborrhea-like dermatitis with psoriasiform elements"	None
CLAPO syndrome	capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome//capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth//clapo (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome//clapo syndrome, somatic//lopez-gutierrez syndrome	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0017044	0017044	613089	168984	C2751313	C567763	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLAPO syndrome"	13
Cernunnos-XLF deficiency	cernunnos deficiency//cernunnos xlfd//combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome//combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome//imd124//immunodeficiency 124, severe combined//nhej1 deficiency//nhej1 syndrome//scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency//scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation//severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency	NHEJ1	NHEJ1	https://raresource.nih.gov/literature/disease/0017045	0017045	611291	169079	C1969799	C566970	non-homologous end joining factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cernunnos-XLF deficiency"	20
Combined immunodeficiency due to CD3gamma deficiency	cd3 deficiency//cd3-gamma deficiency//cd3gamma deficiency//imd17//immunodeficiency 17//immunodeficiency 17, cd3 gamma deficient//immunodeficiency type 17//scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive	CD3G	CD3G	https://raresource.nih.gov/literature/disease/0017046	0017046	615607	169082	C3810107		CD3 gamma subunit of T-cell receptor complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to CD3gamma deficiency"	18
Susceptibility to respiratory infections associated with CD8alpha chain mutation	cd8 deficiency, familial//familial cd8 deficiency//imd116//immunodeficiency 116//susceptibility to respiratory infection associated with cd8alpha chain mutation	CD8A	CD8A	https://raresource.nih.gov/literature/disease/0017047	0017047	608957	169085	C1837065	C563824	CD8 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Susceptibility to respiratory infections associated with CD8alpha chain mutation"	None
Immunodeficiency due to CD25 deficiency	cd25 deficiency//il2ra deficiency//immunodeficiency 41 with lymphoproliferation and autoimmunity//interleukin 2 receptor alpha chain deficiency//interleukin-2 receptor alpha chain deficiency	IL2RA	IL2RA	https://raresource.nih.gov/literature/disease/0017049	0017049	606367	169100	C1853392	C565232	interleukin 2 receptor subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency due to CD25 deficiency"	13
Immunodeficiency due to a late component of complement deficiency	deficiency of complement of terminal pathway//immunodeficiency due to a c5 to c9 component complement deficiency//immunodeficiency due to c5 to c9 component complement deficiency//terminal complement pathway deficiency//terminal component deficiency	C7;C9;C8B;C6;C5;C8A;C8G	C7;C9;C8B;C6;C5;C8A;C8G	https://raresource.nih.gov/literature/disease/0017050	0017050		169150	C0398765		complement C7; complement C9; complement C8 beta chain; complement C6; complement C5; complement C8 alpha chain; complement C8 gamma chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency due to a late component of complement deficiency"	3
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	il-7r//il-7ralpha deficiency//t-b+ scid due to il-7ralpha deficiency	IL7R	IL7R	https://raresource.nih.gov/literature/disease/0017051	0017051		169154	C5679577		interleukin 7 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"	2
T-B+ severe combined immunodeficiency due to CD45 deficiency	cd45 deficiency//t-b+ scid due to cd45 deficiency	PTPRC	PTPRC	https://raresource.nih.gov/literature/disease/0017052	0017052		169157	C5679579		protein tyrosine phosphatase receptor type C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-B+ severe combined immunodeficiency due to CD45 deficiency"	16
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	t-b+ scid due to cd3delta/cd3epsilon/cd3zeta	CD247;CD3D;CD3E	CD247;CD3D;CD3E	https://raresource.nih.gov/literature/disease/0017053	0017053		169160	C5679578		CD247 molecule; CD3 delta subunit of T-cell receptor complex; CD3 epsilon subunit of T-cell receptor complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	None
Primary CD59 deficiency	cd59-mediated hemolytic anemia with or without immune-mediated polyneuropathy//hemolytic anemia, cd59-mediated	CD59	CD59	https://raresource.nih.gov/literature/disease/0017054	0017054	612300	169464	C2676767	C567355	CD59 molecule (CD59 blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary CD59 deficiency"	None
Recurrent Neisseria infections due to factor D deficiency	factor d deficiency	CFD	CFD	https://raresource.nih.gov/literature/disease/0017055	0017055	613912	169467	C0398764	C565027	complement factor D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recurrent Neisseria infections due to factor D deficiency"	4
Severe hemophilia B	severe congenital f9 deficiency//severe congenital factor ix deficiency//severe factor ix deficiency//severe haemophilia type b//severe hemophilia type b//severe hereditary factor ix deficiency disease	F9	F9	https://raresource.nih.gov/literature/disease/0017056	0017056		169793	C5679576		coagulation factor IX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe hemophilia B"	44
Moderately severe hemophilia B	moderate congenital f9 deficiency//moderate congenital factor ix deficiency//moderate hemophilia b//moderate hereditary factor ix deficiency disease//moderately severe factor ix deficiency//moderately severe haemophilia type b//moderately severe hemophilia type b	F9	F9	https://raresource.nih.gov/literature/disease/0017057	0017057		169796	C5679575		coagulation factor IX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moderately severe hemophilia B"	None
Mild hemophilia B	mild congenital f9 deficiency//mild congenital factor ix deficiency//mild factor ix deficiency//mild haemophilia type b//mild hemophilia type b//mild hereditary factor ix deficiency disease	F9	F9	https://raresource.nih.gov/literature/disease/0017058	0017058		169799	C5679574		coagulation factor IX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild hemophilia B"	1
Severe hemophilia A	severe congenital f8 deficiency//severe congenital factor viii deficiency//severe factor viii deficiency//severe haemophilia type a//severe hemophilia type a//severe hereditary factor viii deficiency disease	F8	F8	https://raresource.nih.gov/literature/disease/0017059	0017059		169802	C0272322		coagulation factor VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe hemophilia A"	358
Moderately severe hemophilia A	moderate congenital f8 deficiency//moderate congenital factor viii deficiency//moderate hemophilia a//moderate hereditary factor viii deficiency disease//moderately severe factor viii deficiency//moderately severe haemophilia type a//moderately severe hemophilia type a	F8	F8	https://raresource.nih.gov/literature/disease/0017060	0017060		169805	C0272323		coagulation factor VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moderately severe hemophilia A"	4
Mild hemophilia A	mild congenital f8 deficiency//mild congenital factor viii deficiency//mild factor viii deficiency//mild haemophilia type a//mild hemophilia type a//mild hereditary factor viii deficiency disease	F8	F8	https://raresource.nih.gov/literature/disease/0017061	0017061		169808	C0272324		coagulation factor VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild hemophilia A"	16
Myofibrillar myopathy 5	filaminopathy//filaminopathy (type)//filaminopathy, autosomal dominant//flnc myofibrillar myopathy (disease)//muscle filaminopathy//myofibrillar myopathy (disease) caused by mutation in flnc//myofibrillar myopathy type 5//myopathy, myofibrillar, type 5	FLNC	FLNC	https://raresource.nih.gov/literature/disease/0017062	0017062	609524	171445	C1836050	C537932	filamin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 5"	27
Hereditary spastic paraplegia 37	autosomal dominant spastic paraplegia 37//autosomal dominant spastic paraplegia type 37//hereditary spastic paraplegia type 37//spastic paraplegia 37, autosomal dominant//spg37	KPNA3	KPNA3	https://raresource.nih.gov/literature/disease/0017064	0017064	611945	171612	C2936880	C567931	karyopherin subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 37"	None
Lissencephaly due to TUBA1A mutation	lis3//lissencephaly 3//lissencephaly due to tuba1a (tubulin alpha 1a) mutation//lissencephaly due to tubulin alpha 1a mutation	TUBA1A	TUBA1A	https://raresource.nih.gov/literature/disease/0017066	0017066	611603	171680	C4305153	C566908	tubulin alpha 1a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly due to TUBA1A mutation"	1
Metabolic myopathy due to lactate transporter defect	erythrocyte lactate transporter defect//lactate transporter defect, myopathy due to	SLC16A1	SLC16A1	https://raresource.nih.gov/literature/disease/0017067	0017067	245340	171690	C1855577	C565449	solute carrier family 16 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metabolic myopathy due to lactate transporter defect"	None
Thyroid hormone metabolism, abnormal 1	short stature-delayed bone age due to thyroid hormone metabolism deficiency//thma1	SECISBP2	SECISBP2	https://raresource.nih.gov/literature/disease/0017068	0017068	609698	171706	C5676891	C566454	SECIS binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid hormone metabolism, abnormal 1"	None
PHARC syndrome	peripheral neuropathy, fiskerstrand type//polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome//polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome//polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	ABHD12	ABHD12	https://raresource.nih.gov/literature/disease/0017071	0017071	612674	171848	C2675204	C567203	abhydrolase domain containing 12, lysophospholipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PHARC syndrome"	21
MEDNIK syndrome	erythrokeratodermia variabilis 3//erythrokeratodermia variabilis kamouraska type//erythrokeratodermia variabilis, kamouraska type//intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia//intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome//intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome//intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome//mednik//mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome//mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia	AP1S1	AP1S1	https://raresource.nih.gov/literature/disease/0017072	0017072	609313	171851	C1836330	C563739	adaptor related protein complex 1 subunit sigma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEDNIK syndrome"	21
Hereditary spastic paraplegia 42	autosomal dominant pure spastic paraplegia caused by mutation in slc33a1//autosomal dominant spastic paraplegia 42//autosomal dominant spastic paraplegia type 42//hereditary spastic paraplegia type 42//slc33a1 autosomal dominant pure spastic paraplegia//spastic paraplegia 42//spastic paraplegia 42, autosomal dominant//spg42	SLC33A1	SLC33A1	https://raresource.nih.gov/literature/disease/0017073	0017073	612539	171863	C2675528	C567262	solute carrier family 33 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 42"	1
Symptomatic form of hemophilia A in female carriers	bleeding disorder in hemophilia a carriers	F8	F8	https://raresource.nih.gov/literature/disease/0017076	0017076		177926	C5680504		coagulation factor VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symptomatic form of hemophilia A in female carriers"	None
Symptomatic form of hemophilia B in female carriers	bleeding disorder in hemophilia b carriers	F9	F9	https://raresource.nih.gov/literature/disease/0017077	0017077		177929	C5680505		coagulation factor IX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symptomatic form of hemophilia B in female carriers"	None
Moderate multiminicore disease with hand involvement		RYR1	RYR1	https://raresource.nih.gov/literature/disease/0017078	0017078		178145	C1861753		ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moderate multiminicore disease with hand involvement"	None
Reticulate acropigmentation of Kitamura	kitamura reticulate acropigmentation//kitamura's reticulate acropigmentation//rak//rapk//reticular pigment anomaly of flexures	ADAM10	ADAM10	https://raresource.nih.gov/literature/disease/0017079	0017079	615537	178307	C0406811		ADAM metallopeptidase domain 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reticulate acropigmentation of Kitamura"	40
Distal myopathy with anterior tibial onset	distal anterior compartment myopathy	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0017080	0017080	606768	178400	C1847532	C564664	dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal myopathy with anterior tibial onset"	26
X-linked myopathy with postural muscle atrophy	fhl1-related emery-dreifuss muscular dystrophy, x-linked//myopathy, x-linked, with postural muscle atrophy, x-linked recessive//xmpma//xmpma - x-linked myopathy with postural muscle atrophy	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0017081	0017081	300696	178461	C2678055		four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked myopathy with postural muscle atrophy"	10
Obesity due to leptin receptor gene deficiency	lepr deficiency//obesity, morbid, due to leptin receptor deficiency	LEPR	LEPR	https://raresource.nih.gov/literature/disease/0017083	0017083	614963	179494	C3554225		leptin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to leptin receptor gene deficiency"	26
Recurrent infections associated with rare immunoglobulin isotypes deficiency	igg subclass deficiency with iga subclass deficiency//isolated igg subclass deficiency//kappa chain deficiency//kappa light chain deficiency//kappa-chain deficiency	IGKC	IGKC	https://raresource.nih.gov/literature/disease/0017086	0017086	614102	183675	C3279824	C564131	immunoglobulin kappa constant	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recurrent infections associated with rare immunoglobulin isotypes deficiency"	5
Neutrophil immunodeficiency syndrome	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis//immunodeficiency 73a with defective neutrophil chemotaxix and leukocytosis	RAC2	RAC2	https://raresource.nih.gov/literature/disease/0017087	0017087	608203	183707	C1842398	C564275	Rac family small GTPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutrophil immunodeficiency syndrome"	1
Familial isolated hypoparathyroidism due to impaired PTH secretion		AIRE;PTH	AIRE;PTH	https://raresource.nih.gov/literature/disease/0017088	0017088		189466	C5680524		autoimmune regulator; parathyroid hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated hypoparathyroidism due to impaired PTH secretion"	None
Hereditary hypercarotenemia and vitamin A deficiency		BCO1	BCO1	https://raresource.nih.gov/literature/disease/0017090	0017090	115300	199285	C2676023	C567296	beta-carotene oxygenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hypercarotenemia and vitamin A deficiency"	None
Cleft lip/palate	alveolar cleft lip and palate//cleft lip and palate//cleft lip-alveolus-palate syndrome//cleft palate and lip//cleft palate with cleft lip//flp	DLX4	DLX4	https://raresource.nih.gov/literature/disease/0017092	0017092		199306	C0158646		distal-less homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleft lip/palate"	7517
Endocrine-cerebro-osteodysplasia syndrome	eco syndrome	CILK1	CILK1	https://raresource.nih.gov/literature/disease/0017094	0017094	612651	199332	C2675227	C567210	ciliogenesis associated kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Endocrine-cerebro-osteodysplasia syndrome"	7
Pancreatic insufficiency-anemia-hyperostosis syndrome	pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome	COX4I2	COX4I2	https://raresource.nih.gov/literature/disease/0017095	0017095	612714	199337	C2675184	C567195	cytochrome c oxidase subunit 4I2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic insufficiency-anemia-hyperostosis syndrome"	None
Myofibrillar myopathy 6	bag3 myofibrillar myopathy (disease)//muscular dystrophy, selcen type//myofibrillar myopathy (disease) caused by mutation in bag3//myofibrillar myopathy type 6//myopathy, myofibrillar, type 6	BAG3	BAG3	https://raresource.nih.gov/literature/disease/0017096	0017096	612954	199340	C2751831	C567843	BAG cochaperone 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 6"	6
Factor I deficiency	c3 inactivator deficiency//cfid//complement component 3 inactivator deficiency//complement factor 3i deficiency//complement factor i deficiency//complete factor i deficiency//immunodeficiency with factor i anomaly	CFI	CFI	https://raresource.nih.gov/literature/disease/0017098	0017098	610984	200418	C3463916	C572568	complement factor I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor I deficiency"	55
Immunodeficiency with factor H anomaly		CFH	CFH	https://raresource.nih.gov/literature/disease/0017099	0017099		200421	CN293972		complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency with factor H anomaly"	None
Neuronopathy, distal hereditary motor, autosomal recessive 4	autosomal recessive distal spinal muscular atrophy type 4//autosomal recessive lower motor neuron disease with childhood onset//distal spinal muscular atrophy 4//distal spinal muscular atrophy type 4//dsma4//neuropathy, distal hereditary motor, autosomal recessive 4//spinal muscular atrophy, distal, autosomal recessive, type 4	PLEKHG5	PLEKHG5	https://raresource.nih.gov/literature/disease/0017101	0017101	611067	206580	C1970211	C567023	pleckstrin homology and RhoGEF domain containing G5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 4"	1
Adult-onset proximal spinal muscular atrophy, autosomal dominant	autosomal dominant adult-onset proximal sma//autosomal dominant adult-onset proximal spinal muscular atrophy//autosomal dominant late-onset spinal muscular atrophy finkel type//autosomal dominant late-onset spinal muscular atrophy, finkel type//finkel disease//finkel late-adult type sma//smafk//smafk - spinal muscular atrophy finkel type//spinal muscular atrophy, late-onset, finkel type	VAPB	VAPB	https://raresource.nih.gov/literature/disease/0017102	0017102	182980	209335	C1854058		VAMP associated protein B and C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset proximal spinal muscular atrophy, autosomal dominant"	None
Severe neonatal-onset encephalopathy with microcephaly	encephalopathy, neonatal severe//encephalopathy, neonatal severe, x-linked recessive//mecp2-related severe neonatal encephalopathy//severe congenital encephalopathy due to mecp2 (methyl-cpg binding protein 2) mutation//severe congenital encephalopathy due to mecp2 mutation//severe congenital encephalopathy due to methyl-cpg binding protein 2 mutation//severe neonatal encephalopathy due to mecp2 mutations	MECP2	MECP2	https://raresource.nih.gov/literature/disease/0017103	0017103	300673	209370	C1968556	C566878	methyl-CpG binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe neonatal-onset encephalopathy with microcephaly"	None
Autosomal dominant rhegmatogenous retinal detachment	drrd//rhegmatogenous retinal detachment, autosomal dominant	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0017104	0017104		209867	C1836081		collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant rhegmatogenous retinal detachment"	7
Extraskeletal myxoid chondrosarcoma	chondroid sarcoma//extraosseous chondrosarcoma//extraskeletal chondrosarcoma//myxoid extraosseous chondrosarcoma//myxoid extraskeletal chondrosarcoma	NR4A3;TAF15	NR4A3;TAF15	https://raresource.nih.gov/literature/disease/0017105	0017105	612237	209916	C1275278	C563195	nuclear receptor subfamily 4 group A member 3; TATA-box binding protein associated factor 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Extraskeletal myxoid chondrosarcoma"	424
Episodic ataxia type 6	hereditary episodic ataxia caused by mutation in slc1a3//slc1a3 hereditary episodic ataxia	SLC1A3	SLC1A3	https://raresource.nih.gov/literature/disease/0017107	0017107	612656	209967	C2675211	C567207	solute carrier family 1 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic ataxia type 6"	9
Spastic quadriplegic cerebral palsy	inherited congenital spastic quadriplegia//inherited congenital spastic tetraplegia//quadriplegic infantile cerebral palsy//slowly progressive spastic quadriparesis//spastic quadriplegia//spastic tetraplegia//spastic tetraplegia cerebral palsy//tetraplegic infantile cerebral palsy	KANK1;ADD3;GAD1	KANK1;ADD3;GAD1	https://raresource.nih.gov/literature/disease/0017109	0017109		210141	C0426970		KN motif and ankyrin repeat domains 1; adducin 3; glutamate decarboxylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic quadriplegic cerebral palsy"	731
Lethal polymalformative syndrome, Boissel type	growth retardation, developmental delay, and facial dysmorphism//growth retardation, developmental delay, facial dysmorphism	FTO	FTO	https://raresource.nih.gov/literature/disease/0017110	0017110	612938	210144	C2752001	C567856	FTO alpha-ketoglutarate dependent dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal polymalformative syndrome, Boissel type"	None
Compton-North congenital myopathy	cmyo12//congenital lethal myopathy, compton-north type	CNTN1	CNTN1	https://raresource.nih.gov/literature/disease/0017111	0017111	612540	210163	C2675527	C567261	contactin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Compton-North congenital myopathy"	None
Macrocephaly-autism syndrome	macrocephaly-intellectual disability-autism syndrome	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0017112	0017112	605309	210548	C1854416	C565342	phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrocephaly-autism syndrome"	2
Episodic ataxia type 5	cacnb4 hereditary episodic ataxia//hereditary episodic ataxia caused by mutation in cacnb4	CACNB4	CACNB4	https://raresource.nih.gov/literature/disease/0017113	0017113	613855	211067	C1866039	C566601	calcium voltage-gated channel auxiliary subunit beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic ataxia type 5"	1
Classic pantothenate kinase-associated neurodegeneration	nbia1, classic form//neurodegeneration with brain iron accumulation type 1, classic form//pkan, classic form	PANK2	PANK2	https://raresource.nih.gov/literature/disease/0017114	0017114		216866	C5679812		pantothenate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic pantothenate kinase-associated neurodegeneration"	7
Atypical pantothenate kinase-associated neurodegeneration	nbia1, atypical form//neurodegeneration with brain iron accumulation type 1, atypical form//pkan, atypical form	PANK2	PANK2	https://raresource.nih.gov/literature/disease/0017115	0017115		216873	C5568621		pantothenate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical pantothenate kinase-associated neurodegeneration"	14
Isolated congenital digital clubbing	acropachy//acropachy, hereditary//clubbing of digits//hereditary acropachy//hereditary clubbing//hippocratic fingers//isolated congenital acropachy//isolated congenital nail clubbing	HPGD	HPGD	https://raresource.nih.gov/literature/disease/0017117	0017117	119900	217059	C0345408		15-hydroxyprostaglandin dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital digital clubbing"	89
Mucopolysaccharidosis type 2, severe form	hunter syndrome type a//hunter syndrome, severe form//hunter's syndrome, severe form//iduronate 2-sulfatase deficiency type a//mps2a//mpsiia//mucopolysaccharidosis type 2a//mucopolysaccharidosis type ii severe form//mucopolysaccharidosis type ii, severe form//mucopolysaccharidosis type iia//mucopolysaccharidosis, type ii, severe form	IDS	IDS	https://raresource.nih.gov/literature/disease/0017118	0017118		217085	C0342841		iduronate 2-sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 2, severe form"	1
Mucopolysaccharidosis type 2, attenuated form	hunter syndrome type b//iduronate 2-sulfatase deficiency type b//mps2b//mpsiib//mucopolysaccharidosis type 2b//mucopolysaccharidosis type ii, attenuated form//mucopolysaccharidosis type iib	IDS	IDS	https://raresource.nih.gov/literature/disease/0017119	0017119		217093	C5679815		iduronate 2-sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 2, attenuated form"	3
RIN2 syndrome	macrocephaly, alopecia, cutis laxa, scoliosis syndrome//macrocephaly-alopecia-cutis laxa-scoliosis syndrome//macs (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome//macs syndrome//rin2 deficiency//tall forehead, sparse hair, skin hyperextensibility, and scoliosis//tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome//tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome	RIN2	RIN2	https://raresource.nih.gov/literature/disease/0017120	0017120	613075	217335	C2751321	C567770	Ras and Rab interactor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RIN2 syndrome"	9
Progressive demyelinating neuropathy with bilateral striatal necrosis	bilateral striatal degeneration and progressive polyneuropathy//progressive polyneuropathy with bilateral striatal necrosis//thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)//thmd4	SLC25A19	SLC25A19	https://raresource.nih.gov/literature/disease/0017123	0017123	613710	217396	C3150973		solute carrier family 25 member 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive demyelinating neuropathy with bilateral striatal necrosis"	2
Hereditary hypotrichosis with recurrent skin vesicles	hereditary hypotrichosis with recurrent skin vesicles syndrome//hypotrichosis and recurrent skin vesicles	DSC3	DSC3	https://raresource.nih.gov/literature/disease/0017124	0017124	613102	217407	C2751292	C567751	desmocollin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hypotrichosis with recurrent skin vesicles"	None
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	hereditary thrombophilia due to congenital hrg deficiency//thrombophilia 11 due to hrg deficiency//thrombophilia due to histidine-rich glycoprotein deficiency//thrombophilia due to hrg deficiency	HRG	HRG	https://raresource.nih.gov/literature/disease/0017125	0017125	613116	217467	C2751090	C567737	histidine rich glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	None
Surfactant metabolism dysfunction, pulmonary, 1	interstitial lung disease due to sp-b dysfunction//interstitial lung disease due to surfactant protein b deficiency//interstitial lung disease, nonspecific, due to surfactant protein b deficiency//neonatal acute respiratory distress due to sp-b deficiency//neonatal acute respiratory distress due to surfactant protein b deficiency//pulmonary alveolar proteinosis, congenital, 1//pulmonary surfactant protein b, deficiency of//smdp1//surfactant metabolism dysfunction, pulmonary, type 1	SFTPB	SFTPB	https://raresource.nih.gov/literature/disease/0017126	0017126	265120	217563	C1968602	C566882	surfactant protein B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Surfactant metabolism dysfunction, pulmonary, 1"	None
Chronic respiratory distress with surfactant metabolism deficiency		SFTPC	SFTPC	https://raresource.nih.gov/literature/disease/0017127	0017127		217566	C5190853		surfactant protein C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic respiratory distress with surfactant metabolism deficiency"	None
Dilated cardiomyopathy 1J	autosomal dominant dilated cardiomyopathy with sensorineural hearing loss//cardiomyopathy, dilated, type 1j//cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant//cmd1j//dilated cardiomyopathy type 1j//eya4 familial dilated cardiomyopathy//eya4-related dilated cardiomyopathy//familial dilated cardiomyopathy caused by mutation in eya4//neurosensory deafness with dilated cardiomyopathy//neurosensory hearing loss with dilated cardiomyopathy//sensorineural deafness with dilated cardiomyopathy//sensorineural hearing loss with dilated cardiomyopathy	EYA4	EYA4	https://raresource.nih.gov/literature/disease/0017128	0017128	605362	217622	C1854368	C565337	EYA transcriptional coactivator and phosphatase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1J"	None
Xeroderma pigmentosum-Cockayne syndrome complex	xeroderma pigmentosum and cockayne syndrome complex//xp/cs complex	ERCC5;ERCC2;ERCC4;ERCC3	ERCC5;ERCC2;ERCC4;ERCC3	https://raresource.nih.gov/literature/disease/0017130	0017130		220295	C4304411		ERCC excision repair 5, endonuclease; ERCC excision repair 2, TFIIH core complex helicase subunit; ERCC excision repair 4, endonuclease catalytic subunit; ERCC excision repair 3, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum-Cockayne syndrome complex"	6
Bleeding diathesis due to thromboxane synthesis deficiency		TBXA2R	TBXA2R	https://raresource.nih.gov/literature/disease/0017132	0017132	614009	220443	C5190857		thromboxane A2 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding diathesis due to thromboxane synthesis deficiency"	None
Rothmund-Thomson syndrome type 1	poikiloderma atrophicans and cataract//poikiloderma of rothmund-thomson type 1//rts1	ANAPC1	ANAPC1	https://raresource.nih.gov/literature/disease/0017134	0017134	618625	221008	C5231433		anaphase promoting complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rothmund-Thomson syndrome type 1"	1
Rothmund-Thomson syndrome type 2	poikiloderma of rothmund-thomson type 2//rts2	RECQL4	RECQL4	https://raresource.nih.gov/literature/disease/0017135	0017135	268400	221016	C5203410		RecQ like helicase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rothmund-Thomson syndrome type 2"	5
Fowler syndrome	cerebral proliferative glomeruloid vasculopathy//encephaloclastic proliferative vasculopathy//fowler vasculopaty//hydranencephaly, fowler type//hydrocephaly/hydranencephaly due to cerebral vasculopathy//proliferative vasculopathy and hydranencephaly/hydrocephaly	FLVCR2	FLVCR2	https://raresource.nih.gov/literature/disease/0017138	0017138	225790	221126	C1856972	C565593	FLVCR choline and putative heme transporter 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fowler syndrome"	30
Combined immunodeficiency with faciooculoskeletal anomalies	combined immunodeficiency with faciooculoskeletal anomalies syndrome//combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay//roifman chitayat syndrome//roifman-chitayat syndrome//roifman-chitayat syndrome, digenic	KNSTRN;PIK3CD	KNSTRN;PIK3CD	https://raresource.nih.gov/literature/disease/0017139	0017139	613328	221139	C2750068	C567641	kinetochore localized astrin (SPAG5) binding protein; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency with faciooculoskeletal anomalies"	1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	arcl1c//arcl1c - autosomal recessive cutis laxa type 1c//autosomal recessive cutis laxa type 1c//cutis laxa, autosomal recessive, type ic//urban rifkin davis syndrome//urban-rifkin-davis syndrome	LTBP4	LTBP4	https://raresource.nih.gov/literature/disease/0017140	0017140	613177	221145	C2750804	C567716	latent transforming growth factor beta binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	11
Familial infantile bilateral striatal necrosis	bilateral striatal necrosis, infantile//familial ibsn//familial ibsn (infantile bilateral striatal necrosis)//familial infantile striatonigral degeneration//familial infantile striatonigral necrosis//fbsn//hereditary infantile bilateral striatal necrosis	NUP62	NUP62	https://raresource.nih.gov/literature/disease/0017141	0017141		225154	C4087174		nucleoporin 62	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial infantile bilateral striatal necrosis"	5
Familial cancer of breast	breast cancer susceptibility, autosomal dominant, somatic mutation//breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation//breast cancer, familial//breast cancer, invasive ductal, autosomal dominant, somatic mutation//breast cancer, lobular, somatic//breast cancer, male, susceptibility to, autosomal dominant, somatic mutation//breast cancer, protection against, autosomal dominant, somatic mutation//breast cancer, somatic//breast cancer, susceptibility to, autosomal dominant, somatic mutation//familial breast cancer//familial breast carcinoma//familial cancer of the breast//hereditary breast cancer//hereditary breast carcinoma	HMMR;TP53;BRIP1;SLC67A1;AKT1;XRCC3;BRCA2;ATM;KRAS;CDH1;PIK3CA;BARD1;CASP8;RB1CC1;PHB1;PPM1D;ESR1;RAD51;RAD54L;BRCA1	HMMR;TP53;BRIP1;SLC67A1;AKT1;XRCC3;BRCA2;ATM;KRAS;CDH1;PIK3CA;BARD1;CASP8;RB1CC1;PHB1;PPM1D;ESR1;RAD51;RAD54L;BRCA1	https://raresource.nih.gov/literature/disease/0017142	0017142	114480	227535	C0346153	C562840	hyaluronan mediated motility receptor; tumor protein p53; BRCA1 interacting DNA helicase 1; solute carrier family 67 member 1; AKT serine/threonine kinase 1; X-ray repair cross complementing 3; BRCA2 DNA repair associated; ATM serine/threonine kinase; KRAS proto-oncogene, GTPase; cadherin 1; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; BRCA1 associated RING domain 1; caspase 8; RB1 inducible coiled-coil 1; prohibitin 1; protein phosphatase, Mg2+/Mn2+ dependent 1D; estrogen receptor 1; RAD51 recombinase; RAD54 like; BRCA1 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cancer of breast"	2222
Autosomal recessive optic atrophy, OPA7 type	optic atrophy 7//optic atrophy 7 with or without auditory neuropathy//tmem126a-related optic atrophy with or without extraocular features	TMEM126A	TMEM126A	https://raresource.nih.gov/literature/disease/0017143	0017143	612989	227976	C2751812	C567833	transmembrane protein 126A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive optic atrophy, OPA7 type"	None
Severe combined immunodeficiency due to CORO1A deficiency	coronin-1a deficiency//immunodeficiency 8//immunodeficiency 8 with lymphoproliferation//immunodeficiency type 8//scid due to coro1a deficiency//scid due to coronin-1a deficiency//severe combined immunodeficiency due to coronin 1a deficiency//severe combined immunodeficiency due to coronin-1a deficiency	CORO1A	CORO1A	https://raresource.nih.gov/literature/disease/0017144	0017144	615401	228003	C3809383		coronin 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to CORO1A deficiency"	8
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22//progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome//progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome//progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome//progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome//progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome	MYO6	MYO6	https://raresource.nih.gov/literature/disease/0017145	0017145		228012	C4304831		myosin VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"	None
Striatal degeneration, autosomal dominant	adsd//autosomal dominant striatal neurodegeneration	PDE8B	PDE8B	https://raresource.nih.gov/literature/disease/0017146	0017146		228169	C1836694	C563783	phosphodiesterase 8B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Striatal degeneration, autosomal dominant"	157
Autosomal dominant Charcot-Marie-Tooth disease type 2M	charcot-marie-tooth disease, axonal, autosomal dominant, type 2m//charcot-marie-tooth disease, axonal, type 2m//charcot-marie-tooth disease, type 2m//charcot-marie-tooth neuropathy, axonal, type 2m//cmt2m	DNM2	DNM2	https://raresource.nih.gov/literature/disease/0017147	0017147		228179	C4304672		dynamin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2M"	2
Carnitine palmitoyl transferase II deficiency, myopathic form	carnitine palmitoyl transferase deficiency type 2, adult-onset form//carnitine palmitoyl transferase deficiency type 2, myopathic form//carnitine palmitoyl transferase ii deficiency, adult-onset form//carnitine palmitoyltransferase ii deficiency, adult-onset//carnitine palmitoyltransferase ii deficiency, late-onset//carnitine palmitoyltransferase ii deficiency, myopathic//carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced//cpt ii deficiency, myopathic//cpt ii deficiency, myopathic, stress-induced//cpt2 deficiency, late-onset//cpt2, adult-onset form//cpt2, myopathic form//cptii, adult-onset form//cptii, myopathic form	CPT2	CPT2	https://raresource.nih.gov/literature/disease/0017149	0017149	255110	228302	C1833508	C563461	carnitine palmitoyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine palmitoyl transferase II deficiency, myopathic form"	None
Carnitine palmitoyl transferase II deficiency, severe infantile form	carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form//carnitine palmitoyl transferase deficiency type 2, severe infantile form//carnitine palmitoyl transferase ii deficiency, hepatocardiomuscular form//carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia//carnitine palmitoyltransferase ii deficiency, hepatocardiomuscular//cpt ii deficiency, hepatic//cpt ii deficiency, infantile//cpt2 deficiency, infantile//cpt2, hepatocardiomuscular form//cpt2, severe infantile form//cptii, hepatocardiomuscular form//cptii, severe infantile form	CPT2	CPT2	https://raresource.nih.gov/literature/disease/0017150	0017150	600649	228305	C1833511	C563462	carnitine palmitoyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine palmitoyl transferase II deficiency, severe infantile form"	None
Carnitine palmitoyl transferase II deficiency, neonatal form	carnitine palmitoyl transferase deficiency type 2, lethal systemic form//carnitine palmitoyl transferase deficiency type 2, neonatal form//carnitine palmitoyl transferase ii deficiency, lethal systemic form//carnitine palmitoyltransferase ii deficiency, antenatal//carnitine palmitoyltransferase ii deficiency, lethal neonatal//carnitine palmitoyltransferase ii deficiency, neonatal//cpt ii deficiency, lethal neonatal//cpt2 deficiency, lethal neonatal//cpt2, lethal systemic form//cpt2, neonatal form//cptii, lethal systemic form//cptii, neonatal form	CPT2	CPT2	https://raresource.nih.gov/literature/disease/0017151	0017151	608836	228308	C1833518	C563463	carnitine palmitoyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine palmitoyl transferase II deficiency, neonatal form"	None
Neuronal ceroid lipofuscinosis 8	ceroid lipofuscinosis, neuronal, type 8//cln8//cln8 disease//cln8 neuronal ceroid lipofuscinosis//cln8-related neuronal ceroid-lipofuscinosis//neuronal ceroid lipofuscinosis caused by mutation in cln8//neuronal ceroid lipofuscinosis type 8	CLN8	CLN8	https://raresource.nih.gov/literature/disease/0017152	0017152	600143	228354	C1838570	C537952	CLN8 transmembrane ER and ERGIC protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 8"	22
Charcot-Marie-Tooth disease type 2B5	ar-cmt2b5//autosomal recessive charcot-marie-tooth disease type 2b5//seoan due to nefl deficiency//severe early-onset axonal neuropathy due to light neurofilament subunit deficiency//severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency//severe early-onset axonal neuropathy due to nefl deficiency	NEFL	NEFL	https://raresource.nih.gov/literature/disease/0017153	0017153		228374	C4749824		neurofilament light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2B5"	None
Spondylo-megaepiphyseal-metaphyseal dysplasia	smmd	NKX3-2	NKX3-2	https://raresource.nih.gov/literature/disease/0017154	0017154	613330	228387	C2750066	C567639	NK3 homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylo-megaepiphyseal-metaphyseal dysplasia"	7
Ehlers-Danlos/osteogenesis imperfecta syndrome	eds/oi syndrome//ehlers-danlos and osteogenesis imperfecta syndrome	COL1A2;COL1A1	COL1A2;COL1A1	https://raresource.nih.gov/literature/disease/0017156	0017156		230857	C4518787	C565178	collagen type I alpha 2 chain; collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos/osteogenesis imperfecta syndrome"	None
Familial generalized lentiginosis	familial lentigines profusa//familial multiple lentigines syndrome without systemic involvement//lentiginosis profusa//lentiginosis, diffuse//lentiginosis, generalized//lentiginosis, inherited patterned	SASH1	SASH1	https://raresource.nih.gov/literature/disease/0017158	0017158	151001	231040	C3492944	C573023	SAM and SH3 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial generalized lentiginosis"	6
Rhabdoid tumor predisposition syndrome	familial posterior fossa brain tumor syndrome of infancy//familial posterior fossa brain tumour syndrome of infancy//familial rhabdoid tumor//hereditary rhabdoid tumor//hereditary rhabdoid tumour//rhabdoid predisposition syndrome//rhabdoid tumour predisposition syndrome//rtps	SMARCB1;SMARCA4	SMARCB1;SMARCA4	https://raresource.nih.gov/literature/disease/0017159	0017159		231108	C2985524		SWI/SNF related BAF chromatin remodeling complex subunit B1; SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhabdoid tumor predisposition syndrome"	54
Beckwith-Wiedemann syndrome due to CDKN1C mutation		CDKN1C	CDKN1C	https://raresource.nih.gov/literature/disease/0017160	0017160		231120	C5680918		cyclin dependent kinase inhibitor 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beckwith-Wiedemann syndrome due to CDKN1C mutation"	None
Intracranial berry aneurysm	aneurysm, intracranial berry//familial aneurysmal subarachnoid haemorrhage//familial aneurysmal subarachnoid hemorrhage//familial berry aneurysm//familial cerebral saccular aneurysm//familial intracranial saccular aneurysm//saccular cerebral aneurysm	THSD1;ANGPTL6	THSD1;ANGPTL6	https://raresource.nih.gov/literature/disease/0017161	0017161		231160	C3839866		thrombospondin type 1 domain containing 1; angiopoietin like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intracranial berry aneurysm"	24
Beta-thalassemia major	cooley anaemia//cooley anemia//cooley's anaemia//homozygous beta thalassemia//homozygous thalassemia//mediterranean anaemia//thalassemia major	HBB	HBB	https://raresource.nih.gov/literature/disease/0017162	0017162		231214	C0002875		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-thalassemia major"	4076
Beta thalassemia intermedia	bthal-itmd	HBB	HBB	https://raresource.nih.gov/literature/disease/0017163	0017163		231222	C0472767		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta thalassemia intermedia"	287
Dominant beta-thalassemia	beta-thalassemia, dominant inclusion body type//inclusion body beta-thalassemia//thalassemia-beta, dominant inclusion-body	HBB	HBB	https://raresource.nih.gov/literature/disease/0017164	0017164	603902	231226	C1858990	C565834	hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dominant beta-thalassemia"	7
Delta-beta-thalassemia	f thalassemia	HBG1;HBB;HBD	HBG1;HBB;HBD	https://raresource.nih.gov/literature/disease/0017165	0017165		231237	C0271985	C562716	hemoglobin subunit gamma 1; hemoglobin subunit beta; hemoglobin subunit delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Delta-beta-thalassemia"	60
Beta-thalassemia-X-linked thrombocytopenia syndrome	thrombocytopenia with beta-thalassemia, x-linked//thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive//x-linked thrombocytopenia with beta-thalassemia//xltt	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0017166	0017166	314050	231393	C1839161	C564050	GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-thalassemia-X-linked thrombocytopenia syndrome"	6
Acquired hemoglobin H disease	acquired haemoglobin h disease//acquired hbh disease//alpha-thalassemia myelodysplasia syndrome//alpha-thalassemia myelodysplasia syndrome, somatic//alpha-thalassemia-myelodysplastic syndrome//atmds	ATRX	ATRX	https://raresource.nih.gov/literature/disease/0017167	0017167	300448	231401	C0585216	C563023	ATRX chromatin remodeler	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acquired hemoglobin H disease"	26
Hermansky-Pudlak syndrome with pulmonary fibrosis	hermansky-pudlak syndrome due to bloc-3 deficiency//hps with pulmonary fibrosis	HPS4;HPS1	HPS4;HPS1	https://raresource.nih.gov/literature/disease/0017168	0017168		231500	C5679834		HPS4 biogenesis of lysosomal organelles complex 3 subunit 2; HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome with pulmonary fibrosis"	None
Hermansky-Pudlak syndrome without pulmonary fibrosis	hermansky-pudlak syndrome due to bloc-2 deficiency//hps without pulmonary fibrosis	HPS5;HPS6;HPS3	HPS5;HPS6;HPS3	https://raresource.nih.gov/literature/disease/0017169	0017169		231512	C5679833		HPS5 biogenesis of lysosomal organelles complex 2 subunit 2; HPS6 biogenesis of lysosomal organelles complex 2 subunit 3; HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome without pulmonary fibrosis"	None
Severe X-linked mitochondrial encephalomyopathy	combined oxidative phosphorylation deficiency 6, x-linked recessive//combined oxidative phosphorylation deficiency type 6//encephalomyopathy, mitochondrial, x-linked//mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6//mitochondrial encephalomyopathy due to coxpd6	AIFM1	AIFM1	https://raresource.nih.gov/literature/disease/0017171	0017171	300816	238329	C3151753		apoptosis inducing factor mitochondria associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe X-linked mitochondrial encephalomyopathy"	None
Hypercholanemia, familial 1	baat-related familial hypercholanemia//fhca1	TJP2	TJP2	https://raresource.nih.gov/literature/disease/0017173	0017173	607748	238475	C5542604	C564336	tight junction protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholanemia, familial 1"	None
Chuvash polycythemia	autosomal recessive benign erythrocytosis//chuvash erythrocytosis//chuvash erythromatosis//chuvash type polycythemia//erythrocytosis, familial, type 2//familial erythrocytosis 2//familial polycythemia caused by mutation in vhl//polycythemia, vhl-dependent//vhl familial polycythemia//von hippel-lindau-dependent polycythemia	VHL	VHL	https://raresource.nih.gov/literature/disease/0017176	0017176	263400	238557	C1837915	C563918	von Hippel-Lindau tumor suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chuvash polycythemia"	61
Beckwith-Wiedemann syndrome due to NSD1 mutation		NSD1	NSD1	https://raresource.nih.gov/literature/disease/0017178	0017178		238613	C5680933		nuclear receptor binding SET domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beckwith-Wiedemann syndrome due to NSD1 mutation"	None
Hypothalamic hypothyroidism	hypothyroidism due to trh deficiency//isolated prothyroliberin deficiency//isolated protirelin deficiency//isolated thyroliberin deficiency//isolated thyrotropin-releasing factor deficiency//isolated thyrotropin-releasing hormone deficiency//isolated trf deficiency//isolated trh deficiency//isolated tsh-releasing factor deficiency//tertiary hypothyroidism//thyrotropin-releasing hormone deficiency//trh deficiency	TRH	TRH	https://raresource.nih.gov/literature/disease/0017179	0017179	275120	238670	C0220998		thyrotropin releasing hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothalamic hypothyroidism"	114
Supranuclear palsy, progressive, 1	classic progressive supranuclear palsy syndrome//classic psp syndrome//psnp1//psp//richardson syndrome//supranuclear palsy, progressive//supranuclear palsy, progressive, type 1	MAPT	MAPT	https://raresource.nih.gov/literature/disease/0017182	0017182	601104	240071	C4551863		microtubule associated protein tau	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Supranuclear palsy, progressive, 1"	4425
Progressive supranuclear palsy-parkinsonism syndrome	atypical psp//parkinson-dementia syndrome//progressive supranuclear palsy atypical//psp-p//psp-parkinsonism//supranuclear palsy, progressive atypical//supranuclear palsy, progressive, 1, atypical	MAPT	MAPT	https://raresource.nih.gov/literature/disease/0017183	0017183	260540	240085	C1850077	C537240	microtubule associated protein tau	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive supranuclear palsy-parkinsonism syndrome"	125
Nijmegen breakage syndrome-like disorder	microcephaly and chromosomal instability without immunodeficiency//microcephaly and spontaneous chromosome instability without immunodeficiency//nbs-like (nijmegen breakage syndrome-like) disorder//nbs-like disorder//nbsld//rad50 deficiency	RAD50	RAD50	https://raresource.nih.gov/literature/disease/0017184	0017184	613078	240760	C2751318	C567767	RAD50 double strand break repair protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nijmegen breakage syndrome-like disorder"	14
Dimethylglycine dehydrogenase deficiency	deficiency of dimethylglycine dehydrogenase//dimethylglycine dehydrogenase activity disease//disorder of dimethylglycine dehydrogenase activity//dmg dehydrogenase deficiency//dmgdh deficiency//dmgdhd	DMGDH	DMGDH	https://raresource.nih.gov/literature/disease/0017185	0017185	605850	243343	C1853892	C565278	dimethylglycine dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dimethylglycine dehydrogenase deficiency"	5
Hyperphosphatasia-intellectual disability syndrome	hpmr//hyperphosphatasemia with intellectual disability//hyperphosphatasemia with mental retardation//hyperphosphatasia with intellectual disability syndrome//hyperphosphatasia with mental retardation syndrome//hyperphosphatasia with seizures and neurologic deficit//mabry syndrome	PIGW;PIGO;PIGV;PGAP3;PIGL;PGAP2;PIGY	PIGW;PIGO;PIGV;PGAP3;PIGL;PGAP2;PIGY	https://raresource.nih.gov/literature/disease/0017188	0017188		247262	C1855923		phosphatidylinositol glycan anchor biosynthesis class W; phosphatidylinositol glycan anchor biosynthesis class O; phosphatidylinositol glycan anchor biosynthesis class V; post-GPI attachment to proteins phospholipase 3; phosphatidylinositol glycan anchor biosynthesis class L; post-GPI attachment to proteins 2; phosphatidylinositol glycan anchor biosynthesis class Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia-intellectual disability syndrome"	31
Perinatal lethal hypophosphatasia	hppn//perinatal lethal phosphoethanolaminuria//perinatal lethal rathbun disease//perinatal lethal rathburn disease	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0017191	0017191		247623	C2673477		alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perinatal lethal hypophosphatasia"	13
Odontohypophosphatasia	hppo//odonto-hpp	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0017194	0017194		247685	C1840322	C564146	alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odontohypophosphatasia"	52
Mullerian aplasia and hyperandrogenism	mullerian duct failure and hyperandrogenism//müllerian aplasia and hyperandrogenism//müllerian duct failure and hyperandrogenism//wnt4 deficiency	WNT4	WNT4	https://raresource.nih.gov/literature/disease/0017195	0017195	158330	247768	C2675014	C567186	Wnt family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mullerian aplasia and hyperandrogenism"	6
Juvenile cataract-microcornea-renal glucosuria syndrome	cataract 47//cataract 47, juvenile, with microcornea//cataract, juvenile, with microcornea//juvenile cataract-microcornea-renal glycosuria syndrome	SLC16A12	SLC16A12	https://raresource.nih.gov/literature/disease/0017196	0017196	612018	247794	C4310806	C567434	solute carrier family 16 member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile cataract-microcornea-renal glucosuria syndrome"	None
Ectodermal dysplasia-syndactyly syndrome	ectodermal dysplasia-syndactyly syndrome type 1//edss//edss1	NECTIN4	NECTIN4	https://raresource.nih.gov/literature/disease/0017198	0017198		247820	C4749852		nectin cell adhesion molecule 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia-syndactyly syndrome"	48
Occult macular dystrophy	occult macular dystrophy, susceptibility to//ocmd//ocmd - occult macular dystrophy//omd//omd - occult macular dystrophy	RP1L1	RP1L1	https://raresource.nih.gov/literature/disease/0017200	0017200	613587	247834	C3150833		RP1 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Occult macular dystrophy"	433
Familial cold autoinflammatory syndrome 2	familial cold autoinflammatory syndrome caused by mutation in nlrp12//familial cold autoinflammatory syndrome type 2//fcas2//fcas2 - familial cold autoinflammatory syndrome type 2//nalp12-associated hereditary periodic fever syndrome//naps12//nlr family pyrin domain containing 12-associated hereditary periodic fever syndrome//nlrp12 familial cold autoinflammatory syndrome//nlrp12-associated hereditary periodic fever syndrome	NLRP12	NLRP12	https://raresource.nih.gov/literature/disease/0017201	0017201	611762	247868	C2673198	C567090	NLR family pyrin domain containing 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cold autoinflammatory syndrome 2"	8
Familial hypodysfibrinogenemia	hypodysfibrinogenemia, congenital	FGA;FGB;FGG	FGA;FGB;FGG	https://raresource.nih.gov/literature/disease/0017202	0017202		248408	C1859970		fibrinogen alpha chain; fibrinogen beta chain; fibrinogen gamma chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypodysfibrinogenemia"	1
Isolated microphthalmia 5	isolated microphthalmia caused by mutation in mfrp//isolated microphthalmia type 5//mcop5//mfrp isolated microphthalmia//microphthalmia, isolated type 5//microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome//microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome//nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome//nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome//nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome//posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen//posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen//posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen	MFRP	MFRP	https://raresource.nih.gov/literature/disease/0017205	0017205	611040	251279	C1970236	C567024	membrane frizzled-related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 5"	None
Spastic ataxia 1	ataxia, spastic, 1, autosomal dominant//autosomal dominant spastic ataxia caused by mutation in vamp1//autosomal dominant spastic ataxia type 1//spastic ataxia type 1//spax1//spax1 - autosomal dominant spastic ataxia type 1//vamp1 autosomal dominant spastic ataxia	VAMP1	VAMP1	https://raresource.nih.gov/literature/disease/0017206	0017206	108600	251282	C1970107	C566993	vesicle associated membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 1"	1
Parietal foramina with cleidocranial dysplasia	parietal foramina with clavicular hypoplasia//parietal foramina with cleidocranial dysostosis//pfmccd	MSX2	MSX2	https://raresource.nih.gov/literature/disease/0017207	0017207	168550	251290	C1868597	C566825	msh homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parietal foramina with cleidocranial dysplasia"	1
Pigmented paravenous retinochoroidal atrophy	pigmented paravenous chorioretinal atrophy//pprca//pprca - pigmented paravenous retinochoroidal atrophy	CRB1	CRB1	https://raresource.nih.gov/literature/disease/0017208	0017208	172870	251295	C1868310	C566801	crumbs cell polarity complex component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmented paravenous retinochoroidal atrophy"	108
Ataxia-telangiectasia-like disorder 1	ataxia - telangiectasia-like disorder caused by mutation in mre11//ataxia-telangiectasia-like disorder caused by mutation in mre11//atld//atld1//mre11 ataxia - telangiectasia-like disorder//mre11 ataxia-telangiectasia-like disorder	MRE11	MRE11	https://raresource.nih.gov/literature/disease/0017209	0017209	604391	251347	C4012790		MRE11 homolog, double strand break repair nuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-telangiectasia-like disorder 1"	50
CK syndrome	ck syndrome, x-linked recessive//mental retardation, x-linked, with thin body habitus and cortical malformation//x-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome//x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	NSDHL	https://raresource.nih.gov/literature/disease/0017210	0017210	300831	251383	C3151781		NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CK syndrome"	12
46,XY partial gonadal dysgenesis	46,xy partial testicular dysgenesis//46,xy pgd	ZFPM2;DHX37;SOX9;MAP3K1;NR5A1;GATA4;WWOX;SRY	ZFPM2;DHX37;SOX9;MAP3K1;NR5A1;GATA4;WWOX;SRY	https://raresource.nih.gov/literature/disease/0017211	0017211		251510	C4510744		zinc finger protein, FOG family member 2; DEAH-box helicase 37; SRY-box transcription factor 9; mitogen-activated protein kinase kinase kinase 1; nuclear receptor subfamily 5 group A member 1; GATA binding protein 4; WW domain containing oxidoreductase; sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY partial gonadal dysgenesis"	9
Complete hydatidiform mole	chm - complete hydatidiform mole//classical hydatidiform mole//complete hydatid mole//complete molar pregnancy//complete mole//vesicular mole	KHDC3L;TOP6BL;NLRP7;MEI1	KHDC3L;TOP6BL;NLRP7;MEI1	https://raresource.nih.gov/literature/disease/0017224	0017224		254688	C0678213		KH domain containing 3 like, subcortical maternal complex member; TOP6B like initiator of meiotic double strand breaks; NLR family pyrin domain containing 7; meiotic double-stranded break formation protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complete hydatidiform mole"	917
Lethal infantile mitochondrial myopathy	infantile myopathy and lactic acidosis (fatal and non-fatal forms)//lethal infantile mitochondrial disease//limd//limm	MT-TT	MT-TT	https://raresource.nih.gov/literature/disease/0017226	0017226	551000	254857	C1838876	C564017	mitochondrially encoded tRNA-Thr (ACN)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal infantile mitochondrial myopathy"	3
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	benign cox deficiency//cox deficiency myopathy, infantile, transient//infantile reversible cytochrome c oxidase deficiency myopathy//mitochondrial myopathy with reversible complex iv deficiency//mitochondrial myopathy with reversible cox deficiency//mitochondrial myopathy, infantile, transient//mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency//respiratory chain deficiency, infantile, transient//reversible infantile cytochrome c oxidase deficiency//reversible infantile respiratory chain deficiency	TRMU;MT-TE	TRMU;MT-TE	https://raresource.nih.gov/literature/disease/0017227	0017227	500009	254864	C3151898		tRNA mitochondrial 2-thiouridylase; mitochondrially encoded tRNA-Glu (GAA/G)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"	11
Mitochondrial DNA depletion syndrome, myopathic form	mitochondrial dna depletion myopathy, tk2-related//mitochondrial dna depletion syndrome 2 (myopathic type)//mitochondrial dna depletion syndrome 2 myopathic type//mitochondrial dna depletion syndrome type 2//mtdna depletion syndrome, myopathic form//mtdps2//tk2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form//tk2-related mitochondrial dna depletion myopathy//tk2-related mitochondrial dna depletion syndrome myopathic form//tk2-related mitochondrial dna depletion syndrome, myopathic form	TK2	TK2	https://raresource.nih.gov/literature/disease/0017228	0017228	609560	254875	C3149750	C563698	thymidine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome, myopathic form"	None
Spinocerebellar ataxia with epilepsy	memsa - myoclonic epilepsy myopathy sensory ataxia//mitochondrial spinocerebellar ataxia with epilepsy//mscae//myoclonic epilepsy myopathy sensory ataxia//scae	POLG	POLG	https://raresource.nih.gov/literature/disease/0017229	0017229		254881	C1843852	C564395	DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia with epilepsy"	12
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	coenzyme q10 deficiency, primary, type 2//hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome//pdss1-related coenzyme q10 deficiency	PDSS1	PDSS1	https://raresource.nih.gov/literature/disease/0017230	0017230	614651	254898	C3553354		decaprenyl diphosphate synthase subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	None
Renal tubulopathy-encephalopathy-liver failure syndrome	renal tubulopathy with encephalopathy and liver failure syndrome	BCS1L	BCS1L	https://raresource.nih.gov/literature/disease/0017231	0017231		254902	C4274075		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal tubulopathy-encephalopathy-liver failure syndrome"	None
Combined oxidative phosphorylation defect type 2	combined oxidative phosphorylation deficiency caused by mutation in mrps16//combined oxidative phosphorylation deficiency type 2//corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis//coxpd2//coxpd2 - combined oxidative phosphorylation defect type 2//mrps16 combined oxidative phosphorylation deficiency	MRPS16	MRPS16	https://raresource.nih.gov/literature/disease/0017232	0017232	610498	254920	C1864843	C566468	mitochondrial ribosomal protein S16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 2"	None
Combined oxidative phosphorylation defect type 4	combined oxidative phosphorylation deficiency caused by mutation in tufm//combined oxidative phosphorylation deficiency type 4//coxpd4//coxpd4 - combined oxidative phosphorylation defect type 4//tufm combined oxidative phosphorylation deficiency	TUFM	TUFM	https://raresource.nih.gov/literature/disease/0017233	0017233	610678	254925	C1857682	C565690	Tu translation elongation factor, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 4"	4
Combined oxidative phosphorylation defect type 7	c12orf65 combined oxidative phosphorylation deficiency//combined oxidative phosphorylation deficiency caused by mutation in c12orf65//combined oxidative phosphorylation deficiency type 7//coxpd7//coxpd7 - combined oxidative phosphorylation defect type 7//severe c12orf65-related combined oxidative phosphorylation defect//severe c12orf65-related coxpd	MTRFR	MTRFR	https://raresource.nih.gov/literature/disease/0017234	0017234	613559	254930	C3150801		mitochondrial translation release factor in rescue	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 7"	2
Sideroblastic anemia 3	adult-onset autosomal recessive sideroblastic anaemia//adult-onset autosomal recessive sideroblastic anemia//anemia, sideroblastic, 3, pyridoxine-refractory//glrx5-related sideroblastic anaemia//glrx5-related sideroblastic anemia//sidba3//sideroblastic anemia 3, pyridoxine-refractory	GLRX5	GLRX5	https://raresource.nih.gov/literature/disease/0017235	0017235	616860	255132	C4225155		glutaredoxin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sideroblastic anemia 3"	1
Pyruvate dehydrogenase E1-beta deficiency	pdhbd//pyruvate dehydrogenase complex e1 component subunit beta deficiency	PDHB	PDHB	https://raresource.nih.gov/literature/disease/0017236	0017236	614111	255138	C3279841	C566729	pyruvate dehydrogenase E1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E1-beta deficiency"	None
Pyruvate dehydrogenase E3-binding protein deficiency	2-oxoglutarate complex deficiency//branched chain alpha-ketoacid dehydrogenase complex deficiency//diaphorase deficiency//dihydrolipoyl dehydrogenase deficiency//e3-binding protein (component x) deficiency//glycine cleavage system l protein deficiency//lactic acidemia due to defect in lipoyl-containing component x of the pyruvate dehydrogenase complex//lacticacidemia due to pdx1 deficiency//lipoamide dehydrogenase deficiency//pdhxd//pyruvate dehydrogenase complex component e3 deficiency//pyruvate dehydrogenase protein x component deficiency//pyruvate hydrogenase e3-binding protein deficiency	PDHX	PDHX	https://raresource.nih.gov/literature/disease/0017237	0017237	245349	255182	C1855553	C565447	pyruvate dehydrogenase complex component X	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E3-binding protein deficiency"	35
Autosomal recessive sideroblastic anemia	arsa//congenital sideroblastic anemia//sideroblastic anemia, autosomal recessive	SLC25A38;HSPA9	SLC25A38;HSPA9	https://raresource.nih.gov/literature/disease/0017240	0017240		260305	C4274077		solute carrier family 25 member 38; heat shock protein family A (Hsp70) member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive sideroblastic anemia"	238
Mowat-Wilson syndrome due to a ZEB2 point mutation	hirschsprung disease and intellectual disability due to a zeb2 point mutation	ZEB2	ZEB2	https://raresource.nih.gov/literature/disease/0017249	0017249		261552	C5679681		zinc finger E-box binding homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mowat-Wilson syndrome due to a ZEB2 point mutation"	None
Alagille syndrome due to a JAG1 point mutation	alagille syndrome 1//alagille syndrome type 1//alagille syndrome-jag1//alagille-watson syndrome due to a jag1 point mutation//arteriohepatic dysplasia due to a jag1 point mutation//hepatic ductular hypoplasia, syndromatic//jag1-related alagille syndrome//syndromic bile duct paucity due to a jag1 point mutation	JAG1	JAG1	https://raresource.nih.gov/literature/disease/0017251	0017251		261619	C1956125		jagged canonical Notch ligand 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alagille syndrome due to a JAG1 point mutation"	2
Alagille syndrome due to a NOTCH2 point mutation	alagille syndrome 2//alagille syndrome type 2//alagille syndrome-notch2//alagille-watson syndrome due to a notch2 point mutation//arteriohepatic dysplasia due to a notch2 point mutation//syndromic bile duct paucity due to a notch2 point mutation	NOTCH2	NOTCH2	https://raresource.nih.gov/literature/disease/0017252	0017252	610205	261629	C1857761		notch receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alagille syndrome due to a NOTCH2 point mutation"	1
Kleefstra syndrome due to a point mutation		KMT2C;EHMT1	KMT2C;EHMT1	https://raresource.nih.gov/literature/disease/0017253	0017253		261652	C5680724		lysine methyltransferase 2C; euchromatic histone lysine methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kleefstra syndrome due to a point mutation"	None
Glycogen storage disease XV	glycogen storage disease type 15//glycogen storage disease type xv//glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency//glycogenin deficiency//glycogenosis type 15//glycogenosis type xv//glycogenosis with severe cardiomyopathy due to glycogenin deficiency//gsd type 15//gsd type xv//gsd with severe cardiomyopathy due to glycogenin deficiency//gsd xv//gsd15	GYG1	GYG1	https://raresource.nih.gov/literature/disease/0017254	0017254	613507	263297	C3150754		glycogenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease XV"	9
MRCS syndrome	microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome//microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome//mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0017255	0017255		263347	C4749856		bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MRCS syndrome"	3
Hyperinsulinism due to INSR deficiency	hyperinsulinemic hypoglycemia due to insr deficiency//hyperinsulinemic hypoglycemia due to insulin receptor deficiency//hyperinsulinemic hypoglycemia, familial, type 5//hyperinsulinism due to glutamodehydrogenase deficiency	INSR	INSR	https://raresource.nih.gov/literature/disease/0017256	0017256	609968	263458	C1864952	C566494	insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to INSR deficiency"	None
Peeling skin syndrome type A	generalised deciduous skin type a//generalised peeling skin syndrome type a//generalized deciduous skin type a//generalized peeling skin syndrome type a//non-inflammatory generalised peeling skin syndrome type a.//non-inflammatory generalized peeling skin syndrome type a.//non-inflammatory peeling skin syndrome type a//peeling skin syndrome 3//peeling skin syndrome type 3//pss type a//pss3	SERPINB8;CHST8;FLG2	SERPINB8;CHST8;FLG2	https://raresource.nih.gov/literature/disease/0017258	0017258	616265	263548	C4015729		serpin family B member 8; carbohydrate sulfotransferase 8; filaggrin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peeling skin syndrome type A"	2
Peeling skin syndrome 1	cdsn peeling skin syndrome//generalised deciduous skin type b//generalised peeling skin syndrome type b//generalized deciduous skin type b//generalized peeling skin syndrome type b//hereditary skin peeling syndrome//inflammatory peeling skin syndrome//keratolysis exfoliativa congenita//peeling skin syndrome caused by mutation in cdsn//peeling skin syndrome type b//pss type b//pss1//skin peeling, familial continuous generalized	CDSN	CDSN	https://raresource.nih.gov/literature/disease/0017259	0017259		263553	C1849193		corneodesmosin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peeling skin syndrome 1"	17
Familial multiple meningioma	familial multiple benign meningioma	SMARCB1;SMARCE1	SMARCB1;SMARCE1	https://raresource.nih.gov/literature/disease/0017260	0017260		263662	C4707361		SWI/SNF related BAF chromatin remodeling complex subunit B1; SWI/SNF related BAF chromatin remodeling complex subunit E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial multiple meningioma"	1
Glycogen storage disease due to liver phosphorylase kinase deficiency	glycogen storage disease type 9a//glycogen storage disease type 9c//glycogen storage disease type ixa//glycogen storage disease type ixc//glycogenosis due to liver phosphorylase kinase deficiency//glycogenosis type 9a//glycogenosis type 9c//glycogenosis type ixa//glycogenosis type ixc//gsd due to liver phosphorylase kinase deficiency//gsd type 9a//gsd type 9c//gsd type ixa//gsd type ixc//liver phosphorylase kinase deficiency//xlg	PHKG2;PHKA2	PHKG2;PHKA2	https://raresource.nih.gov/literature/disease/0017261	0017261		264580	C2012260		phosphorylase kinase catalytic subunit gamma 2; phosphorylase kinase regulatory subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to liver phosphorylase kinase deficiency"	43
Autoimmune lymphoproliferative syndrome type 4	alps type 4//alps type iv//alps4//autoimmune lymphoproliferative syndrome caused by mutation in nras//autoimmune lymphoproliferative syndrome type iv//autoimmune lymphoproliferative syndrome, type iv//nras autoimmune lymphoproliferative syndrome//rald//rald - ras-associated autoimmune leukoproliferative disease//ras-associated autoimmune leukoproliferative disease//ras-associated autoimmune leukoproliferative disorder//ras-associated autoimmune lymphoproliferative syndrome type iv, somatic	NRAS;KRAS	NRAS;KRAS	https://raresource.nih.gov/literature/disease/0017262	0017262	614470	268114	C2674723		NRAS proto-oncogene, GTPase; KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome type 4"	27
Classical maple syrup urine disease	classic bckd deficiency//classic branched-chain 2-ketoacid dehydrogenase deficiency//classic branched-chain alpha-ketoacid dehydrogenase deficiency//classic branched-chain ketoaciduria//classic maple syrup urine disease//classic msud//severe branched chain ketoacid dehydrogenase deficiency	DBT;BCKDHA;BCKDHB	DBT;BCKDHA;BCKDHB	https://raresource.nih.gov/literature/disease/0017263	0017263		268145	C0268568		dihydrolipoamide branched chain transacylase E2; branched chain keto acid dehydrogenase E1 subunit alpha; branched chain keto acid dehydrogenase E1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classical maple syrup urine disease"	32
Intermediate maple syrup urine disease	intermediate bckd deficiency//intermediate branched chain ketoaciduria//intermediate branched-chain 2-ketoacid dehydrogenase deficiency//intermediate branched-chain alpha-ketoacid dehydrogenase deficiency//intermediate msud	BCKDHB;DBT;PPM1K;BCKDHA	BCKDHB;DBT;PPM1K;BCKDHA	https://raresource.nih.gov/literature/disease/0017264	0017264		268162	C1621920		branched chain keto acid dehydrogenase E1 subunit beta; dihydrolipoamide branched chain transacylase E2; protein phosphatase, Mg2+/Mn2+ dependent 1K; branched chain keto acid dehydrogenase E1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate maple syrup urine disease"	4
Intermittent maple syrup urine disease	intermittent bckd deficiency//intermittent branched chain ketoaciduria//intermittent branched-chain 2-ketoacid dehydrogenase deficiency//intermittent branched-chain alpha-ketoacid dehydrogenase deficiency//intermittent branched-chain ketoaciduria//intermittent msud//partial branched chain ketoacid dehydrogenase deficiency	BCKDHA;DBT;BCKDHB	BCKDHA;DBT;BCKDHB	https://raresource.nih.gov/literature/disease/0017265	0017265		268173	C0268569		branched chain keto acid dehydrogenase E1 subunit alpha; dihydrolipoamide branched chain transacylase E2; branched chain keto acid dehydrogenase E1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermittent maple syrup urine disease"	7
Thiamine-responsive maple syrup urine disease	thiamin-responsive maple syrup urine disease//thiamine-responsive bckd deficiency//thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency//thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency//thiamine-responsive msud	DBT	DBT	https://raresource.nih.gov/literature/disease/0017266	0017266		268184	C0751285		dihydrolipoamide branched chain transacylase E2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thiamine-responsive maple syrup urine disease"	5
Isolated focal cortical dysplasia type IIa	fcd type iia//focal cortical dysplasia of taylor type 2a	MTOR;TSC2	MTOR;TSC2	https://raresource.nih.gov/literature/disease/0017270	0017270		269001	C1846386		mechanistic target of rapamycin kinase; TSC complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated focal cortical dysplasia type IIa"	15
Isolated focal cortical dysplasia type IIb	fcd type iib	TSC2;MTOR;TSC1	TSC2;MTOR;TSC1	https://raresource.nih.gov/literature/disease/0017271	0017271		269008	C5679768		TSC complex subunit 2; mechanistic target of rapamycin kinase; TSC complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated focal cortical dysplasia type IIb"	34
Congenital non-communicating hydrocephalus	congenital obstructive hydrocephalus	CCDC88C	CCDC88C	https://raresource.nih.gov/literature/disease/0017272	0017272		269510	C4546092		coiled-coil domain containing 88C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital non-communicating hydrocephalus"	30
Frontotemporal dementia with motor neuron disease	amyotrophic lateral sclerosis with frontotemporal dementia//frontotemporal dementia with als//frontotemporal dementia with amyotrophic lateral sclerosis//ftd-als//ftd-mnd//ftdals	C9orf72;VCP;TBK1;TARDBP;CHCHD10;SQSTM1	C9orf72;VCP;TBK1;TARDBP;CHCHD10;SQSTM1	https://raresource.nih.gov/literature/disease/0017273	0017273		275872	C3888102	C566288	C9orf72-SMCR8 complex subunit; valosin containing protein; TANK binding kinase 1; TAR DNA binding protein; coiled-coil-helix-coiled-coil-helix domain containing 10; sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia with motor neuron disease"	137
Multiple endocrine neoplasia type 4	cdkn1b multiple endocrine neoplasia//men (multiple endocrine neoplasia) 4 syndrome//men4//multiple endocrine neoplasia caused by mutation in cdkn1b//multiple endocrine neoplasia, type iv	CDKN1B	CDKN1B	https://raresource.nih.gov/literature/disease/0017275	0017275	610755	276152	C1970712	C567059	cyclin dependent kinase inhibitor 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple endocrine neoplasia type 4"	60
Euthyroid goiter	euthyroid goitre//familial mng//familial multinodular goiter//familial multinodular goiter syndrome//fmng//goiter, multinodular 1, with or without sertoli-leydig cell tumors//goiter, nontoxic, with intrathyroidal calcification//mng1//multinodular goiter, adolescent//simple goiter	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0017278	0017278	138800	276399	C0302859	C562732	dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Euthyroid goiter"	445
Hyperbiliverdinemia	green jaundice//hblvd	BLVRA	BLVRA	https://raresource.nih.gov/literature/disease/0017279	0017279	614156	276405	C3279964		biliverdin reductase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperbiliverdinemia"	10
Ogden syndrome	n-alpha-acetyltransferase//n-terminal acetyltransferase deficiency//ogden syndrome, x-linked recessive, x-linked dominant//ogdns//premature ageing appearance-developmental delay-cardiac arrhythmia syndrome//premature aging appearance, developmental delay, cardiac arrhythmia syndrome//premature aging appearance-developmental delay-cardiac arrhythmia syndrome//x-linked malformation and infantile lethality syndrome	NAA10	NAA10	https://raresource.nih.gov/literature/disease/0017281	0017281	300855	276432	C3275447	C536107	N-alpha-acetyltransferase 10, NatA catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ogden syndrome"	33
Lower motor neuron syndrome with late-adult onset	late-onset spinal motor neuronopathy//losmon//smaj//spinal muscular atrophy, jokela type	CHCHD10	CHCHD10	https://raresource.nih.gov/literature/disease/0017282	0017282	615048	276435	C3554398		coiled-coil-helix-coiled-coil-helix domain containing 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lower motor neuron syndrome with late-adult onset"	13
Autosomal dominant hyperinsulinism due to SUR1 deficiency	autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency//autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0017283	0017283		276575	C4274080		ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hyperinsulinism due to SUR1 deficiency"	None
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency//dominant katp hyperinsulinism due to kir6.2 deficiency	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0017284	0017284		276580	C4274081		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"	None
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency//hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0017285	0017285		276598	C5191059		ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"	None
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0017286	0017286		276603	C5191060		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"	None
Hereditary neutrophilia		CSF3R	CSF3R	https://raresource.nih.gov/literature/disease/0017287	0017287	162830	279943	C0543669	C563010	colony stimulating factor 3 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary neutrophilia"	5
Severe combined immunodeficiency due to LCK deficiency	immunodeficiency 22//immunodeficiency type 22//scid due to lck deficiency//scid due to lymphocyte-specific protein tyrosine kinase deficiency//severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency	LCK	LCK	https://raresource.nih.gov/literature/disease/0017288	0017288	615758	280142	C4014233		LCK proto-oncogene, Src family tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to LCK deficiency"	None
Microform holoprosencephaly	holoprosencc)phalie, minor form//holoprosencephaly minor form//holoprosencephaly, minor form//holoprosencephaly-like//holoprosencéphalie, minor form//hpe (holoprosencephaly) minor form//hpe, minor form//hpe-l//microform hpe	GAS1;NODAL;SHH;CDON;TGIF1;SIX3;DISP1;ZIC2;GLI2;DLL1;CRIPTO;FGF8;FOXH1;PTCH1	GAS1;NODAL;SHH;CDON;TGIF1;SIX3;DISP1;ZIC2;GLI2;DLL1;CRIPTO;FGF8;FOXH1;PTCH1	https://raresource.nih.gov/literature/disease/0017290	0017290		280200	C5393309		growth arrest specific 1; nodal growth differentiation factor; sonic hedgehog signaling molecule; cell adhesion associated, oncogene regulated; TGFB induced factor homeobox 1; SIX homeobox 3; dispatched RND transporter family member 1; Zic family member 2; GLI family zinc finger 2; delta like canonical Notch ligand 1; cripto, EGF-CFC family member; fibroblast growth factor 8; forkhead box H1; patched 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microform holoprosencephaly"	10
Pelizaeus-Merzbacher disease, connatal form	connatal pmd//pelizaeus-merzbacher disease type ii//severe pmd	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0017291	0017291		280210	C5679776		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus-Merzbacher disease, connatal form"	4
Null syndrome	pelizaeus-merzbacher disease null syndrome//pelizaeus-merzbacher disease, null syndrome//plp1 null syndrome	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0017292	0017292		280234	C5439441		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Null syndrome"	4
Hypomyelinating leukodystrophy 2	gjc2 leukodystrophy//hld2//hypomyelinating leukodystrophy type 2//leukodystrophy caused by mutation in gjc2//leukodystrophy, hypomyelinating, type 2//pelizaeus merzbacher like disease due to gjc2 mutation//pelizaeus-merzbacher-like disease 1//pelizaeus-merzbacher-like disease due to gjc2 mutation//pelizaeus-merzbacher-like disease, 1//pmld1	GJC2	GJC2	https://raresource.nih.gov/literature/disease/0017293	0017293	608804	280282	C1837355	C563855	gap junction protein gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 2"	14
Hypomyelinating leukodystrophy 4	hld4//hspd1 leukodystrophy//hypomyelinating leukodystrophy type 4//leukodystrophy caused by mutation in hspd1//leukodystrophy, hypomyelinating, type 4//mitchap60 disease//mitochondrial hsp60 chaperonopathy//pelizaeus merzbacher like disease due to hspd1 mutation//pelizaeus-merzbacher-like disease due to hspd1 mutation	HSPD1	HSPD1	https://raresource.nih.gov/literature/disease/0017294	0017294	612233	280288	C2677109	C567390	heat shock protein family D (Hsp60) member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 4"	4
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	coenzyme q10 deficiency, primary, type 6//familial steroid-resistant nephrotic syndrome with sensorineural hearing loss	COQ6	COQ6	https://raresource.nih.gov/literature/disease/0017295	0017295	614650	280406	C3553349		coenzyme Q6, monooxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial steroid-resistant nephrotic syndrome with sensorineural deafness"	None
Fatal infantile hypertonic myofibrillar myopathy	alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy//mfm, fatal infantile hypertonic, alpha-b crystallin-related//mfm2b//myopathy, myofibrillar, 2b, infantile-onset	CRYAB	CRYAB	https://raresource.nih.gov/literature/disease/0017296	0017296	613869	280553	C5190691		crystallin alpha B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal infantile hypertonic myofibrillar myopathy"	1
Hemoglobinopathy Toms River	transient neonatal cyanosis and anaemia due to toms river haemoglobin//transient neonatal cyanosis and anemia due to toms river hemoglobin	HBG2	HBG2	https://raresource.nih.gov/literature/disease/0017297	0017297		280615	C5190689		hemoglobin subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobinopathy Toms River"	None
Familial progressive hyper- and hypopigmentation	familial progressive hyperpigmentation and hypopigmentation of skin//fphh	KITLG	KITLG	https://raresource.nih.gov/literature/disease/0017298	0017298		280628	C4706423		KIT ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial progressive hyper- and hypopigmentation"	13
Occipital pachygyria and polymicrogyria	occipital malformations of cortical development//occipital mcd	LAMC3	LAMC3	https://raresource.nih.gov/literature/disease/0017299	0017299	614115	280640	C3279875		laminin subunit gamma 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Occipital pachygyria and polymicrogyria"	None
Self-healing collodion baby	self-improving collodion baby//self-improving congenital ichthyosis//shcb//sici	ALOX12B;ALOXE3;TGM1	ALOX12B;ALOXE3;TGM1	https://raresource.nih.gov/literature/disease/0017303	0017303		281122	C1855789	C565473	arachidonate 12-lipoxygenase, 12R type; arachidonate epidermal lipoxygenase 3; transglutaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Self-healing collodion baby"	11
Annular epidermolytic ichthyosis	aei//ichthyosis, annular epidermolytic	KRT10;KRT1	KRT10;KRT1	https://raresource.nih.gov/literature/disease/0017304	0017304		281139	C1843463	C564367	keratin 10; keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Annular epidermolytic ichthyosis"	50
Congenital reticular ichthyosiform erythroderma	crie//crie - congenital reticular ichthyosiform erythroderma//ichthyosis variegata//ichthyosis with confetti//iwc	KRT10	KRT10	https://raresource.nih.gov/literature/disease/0017305	0017305	609165	281190	C3665704	C563781	keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital reticular ichthyosiform erythroderma"	33
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	klick syndrome	POMP	POMP	https://raresource.nih.gov/literature/disease/0017306	0017306	601952	281201	C1866029	C566600	proteasome maturation protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	7
Inherited Creutzfeldt-Jakob disease	creutzfeldt-jakob disease, familial//creutzfeldt-jakob disease, variant, resistance to//familial creutzfeldt-jakob//fcjd (familial creutzfeldt-jakob disease)//hereditary creutzfeldt jacob disease//inherited cjd	PRNP;HLA-DQB1	PRNP;HLA-DQB1	https://raresource.nih.gov/literature/disease/0017307	0017307		282166	C0751254		prion protein (Kanno blood group); major histocompatibility complex, class II, DQ beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inherited Creutzfeldt-Jakob disease"	13
Larsen-like syndrome, B3GAT3 type	larsen syndrome, autosomal recessive//multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects//multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects//multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3GAT3	B3GAT3	https://raresource.nih.gov/literature/disease/0017308	0017308	245600	284139	C3278404	C537874	beta-1,3-glucuronyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Larsen-like syndrome, B3GAT3 type"	None
Craniosynostosis and dental anomalies	craniosynostosis and dental anomalies syndrome//craniosynostosis-dental anomalies//crsda//kreiborg pakistani syndrome//kreiborg-pakistani syndrome	IL11RA	IL11RA	https://raresource.nih.gov/literature/disease/0017309	0017309	614188	284149	C3280073		interleukin 11 receptor subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis and dental anomalies"	2
Autosomal recessive spinocerebellar ataxia 11	autosomal recessive cerebellar ataxia, psychomotor delay syndrome//autosomal recessive cerebellar ataxia-psychomotor delay syndrome//autosomal recessive spinocerebellar ataxia type 11//autosomal recessive syndromic cerebellar ataxia caused by mutation in syt14//scar11//spinocerebellar ataxia, autosomal recessive type 11//syt14 autosomal recessive syndromic cerebellar ataxia	SYT14	SYT14	https://raresource.nih.gov/literature/disease/0017312	0017312	614229	284271	C5190803		synaptotagmin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 11"	None
Autosomal recessive spinocerebellar ataxia 12	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in wwox//autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency//autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency//autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency//autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox//autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency//autosomal recessive spinocerebellar ataxia type 12//scar12//spinocerebellar ataxia with mental retardation and epilepsy//spinocerebellar ataxia, autosomal recessive type 12//wwox autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome//wwox autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	WWOX	WWOX	https://raresource.nih.gov/literature/disease/0017313	0017313	614322	284282	C3280452		WW domain containing oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 12"	7
Autosomal recessive spinocerebellar ataxia 10	adult-onset autosomal recessive cerebellar ataxia//ano10 autosomal recessive cerebellar ataxia//autosomal recessive cerebellar ataxia caused by mutation in ano10//autosomal recessive spinocerebellar ataxia type 10//scar10//scar10 - autosomal recessive spinocerebellar ataxia type 10//spinocerebellar ataxia, autosomal recessive type 10	ANO10	ANO10	https://raresource.nih.gov/literature/disease/0017314	0017314	613728	284289	C3150998		anoctamin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 10"	8
Pontocerebellar hypoplasia type 7	congenital pontocerebellar hypoplasia type 7//non-syndromic pontocerebellar hypoplasia caused by mutation in toe1//pch7//pch7 - pontocerebellar hypoplasia type 7//pontocerebellar hypoplasia-46,xy disorder of sex development syndrome//toe1 non-syndromic pontocerebellar hypoplasia	TOE1	TOE1	https://raresource.nih.gov/literature/disease/0017315	0017315	614969	284339	C3554226		target of EGR1, exonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 7"	14
Glycerol kinase deficiency, juvenile form		GK	GK	https://raresource.nih.gov/literature/disease/0017316	0017316		284411	C5681029		glycerol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycerol kinase deficiency, juvenile form"	None
Glycerol kinase deficiency, adult form		GK	GK	https://raresource.nih.gov/literature/disease/0017317	0017317		284414	C5681013		glycerol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycerol kinase deficiency, adult form"	None
Vitamin D-dependent rickets, type 1	1 alpha-hydroxylase deficiency//1-alpha-hydroxylase deficiency//25-hydroxycholecalciferol-1-hydroxylase deficiency//calcidiol 1-monooxygenase defect//hypocalcemic vitamin d-dependent rickets//pddr - pseudovitamin d deficiency rickets//pddri//pseudo vitamin-d deficient rickets//pseudo-vitamin-d-deficient rickets//pseudodeficiency rickets//pseudovitamin d deficiency rickets//pseudovitamin d-deficient rickets//pseudovitamin d-resistant rickets//selective 1-alpha, 25-hydroxyvitamin d3 deficiency//vdd1//vddi//vddr i - vitamin d-dependent rickets type i//vddr-i//vddr1//vitamin d 1 alpha-hydroxylase deficiency//vitamin d dependency, type 1//vitamin d dependent rickets type i//vitamin d-dependency type i//vitamin d-dependent rickets type i//vitamin d-dependent rickets, type i	CYP27B1;CYP2R1	CYP27B1;CYP2R1	https://raresource.nih.gov/literature/disease/0017319	0017319		289157	C0268689	C562688	cytochrome P450 family 27 subfamily B member 1; cytochrome P450 family 2 subfamily R member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin D-dependent rickets, type 1"	91
Autosomal recessive hypophosphatemic vitamin D refractory rickets	arhr//autosomal recessive hereditary hypophosphatemic rickets//autosomal recessive hypophosphatemic rickets//hereditary hypophosphatemic rickets, autosomal recessive//hypophosphatemic rickets, autosomal recessive	ENPP1;DMP1	ENPP1;DMP1	https://raresource.nih.gov/literature/disease/0017320	0017320		289176	C0342643		ectonucleotide pyrophosphatase/phosphodiesterase 1; dentin matrix acidic phosphoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive hypophosphatemic vitamin D refractory rickets"	53
Adenosine kinase deficiency	adk deficiency//adk hypermethioninemia//autosomal recessive intellectual disability 8//autosomal recessive mental retardation 8//hypermethioninemia due to adenosine kinase deficiency//hypermethioninemia encephalopathy due to adenosine kinase deficiency//hypermethioninemia encephalopathy due to adk (adenosine kinase) deficiency//hypermethioninemia encephalopathy due to adk deficiency//hypermethioninemia encephalopathy due to deficiency of adenosine kinase//mental retardation, autosomal recessive 8//mrt8	ADK	ADK	https://raresource.nih.gov/literature/disease/0017321	0017321	614300	289290	C4706555	C567015	adenosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenosine kinase deficiency"	28
Methylmalonate semialdehyde dehydrogenase deficiency	developmental delay due to aldh6a1 deficiency//developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency//developmental delay due to mmsdh deficiency//mmsdh (methylmalonate semialdehyde dehydrogenase) deficiency//mmsdh deficiency//mmsdhd	ALDH6A1	ALDH6A1	https://raresource.nih.gov/literature/disease/0017322	0017322	614105	289307	C3279840	C566402	aldehyde dehydrogenase 6 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonate semialdehyde dehydrogenase deficiency"	4
Familial vesicoureteral reflux	familial vur//hereditary vesicoureteral reflux (disease)	SOX17;ROBO2;TNXB	SOX17;ROBO2;TNXB	https://raresource.nih.gov/literature/disease/0017323	0017323		289365	C4706552		SRY-box transcription factor 17; roundabout guidance receptor 2; tenascin XB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial vesicoureteral reflux"	35
Early-onset myopathy with fatal cardiomyopathy	cmyo5//congenital myopathy 5 with cardiomyopathy//eomfc//salih congenital muscular dystrophy//salih myopathy	TTN	TTN	https://raresource.nih.gov/literature/disease/0017324	0017324	611705	289377	C2673677	C567129	titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset myopathy with fatal cardiomyopathy"	7
Anterior segment dysgenesis 7	anterior segment dysgenesis 7, with sclerocornea//anterior segment dysgenesis caused by mutation in pxdn//asgd7//ccmco//congenital cataract microcornea with corneal opacity//pxdn anterior segment dysgenesis//pxdn-related ocular dysgenesis//sclerocornea with other ocular anomalies	PXDN	PXDN	https://raresource.nih.gov/literature/disease/0017327	0017327	269400	289499	C3151617		peroxidasin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 7"	None
Exfoliative ichthyosis	autosomal recessive exfoliative ichthyosis//ichthyosis exfoliativa	CSTA;SERPINB8	CSTA;SERPINB8	https://raresource.nih.gov/literature/disease/0017329	0017329		289586	C1838440		cystatin A; serpin family B member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exfoliative ichthyosis"	13
Glutathione synthetase deficiency with 5-oxoprolinuria	5-oxoprolinuria due to glutathione synthetase deficiency//deficiency of glutathione synthase//deficiency of glutathione synthetase//gluthathione synthetase deficiency//reduced glutathione synthetase level	GSS	GSS	https://raresource.nih.gov/literature/disease/0017330	0017330	266130	289846	C0398746		glutathione synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutathione synthetase deficiency with 5-oxoprolinuria"	7
Glutathione synthetase deficiency without 5-oxoprolinuria	anemia, congenital, nonspherocytic hemolytic, 6//anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient//cnsha6//glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to//gssde//hemolytic anaemia due to glutathione synthetase deficiency//hemolytic anemia due to glutathione synthetase deficiency	GSS	GSS	https://raresource.nih.gov/literature/disease/0017331	0017331	231900	289849	C1856399	C565545	glutathione synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutathione synthetase deficiency without 5-oxoprolinuria"	None
Neonatal glycine encephalopathy	classic glycine encephalopathy//neonatal nkh//neonatal non-ketotic hyperglycinemia	GLDC;AMT;GCSH	GLDC;AMT;GCSH	https://raresource.nih.gov/literature/disease/0017332	0017332		289857	C5548200		glycine decarboxylase; aminomethyltransferase; glycine cleavage system protein H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal glycine encephalopathy"	11
Infantile glycine encephalopathy	glycine encephalopathy of infancy//infantile nkh//infantile non-ketotic hyperglycinemia//infantile onset glycine encephalopathy	GCSH;GLDC;SLC6A9;AMT	GCSH;GLDC;SLC6A9;AMT	https://raresource.nih.gov/literature/disease/0017333	0017333		289860	C5548209		glycine cleavage system protein H; glycine decarboxylase; solute carrier family 6 member 9; aminomethyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile glycine encephalopathy"	1
Atypical glycine encephalopathy	atypical nka//atypical non-ketotic hyperglycinemia//glycine encephalopathy with normal serum glycine	SLC6A9	SLC6A9	https://raresource.nih.gov/literature/disease/0017334	0017334	617301	289863	C4310943		solute carrier family 6 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical glycine encephalopathy"	None
Vitamin B12-unresponsive methylmalonic acidemia type mut0	complete deficiency of methylmalonyl-coa mutase//complete deficiency of methylmalonyl-coenzyme a mutase//mmut-gene related complete deficiency of methylmalonyl-coenzyme a mutase//mutase0 methylmalonic acidemia//vitamin b12-unresponsive methylmalonic aciduria type mut0	MMUT	MMUT	https://raresource.nih.gov/literature/disease/0017335	0017335		289916	C0342718		methylmalonyl-CoA mutase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin B12-unresponsive methylmalonic acidemia type mut0"	None
Familial clubfoot due to PITX1 point mutation	hereditary clubfoot due to pitx1 point mutation	PITX1	PITX1	https://raresource.nih.gov/literature/disease/0017337	0017337	119800	293150	C5679943		paired like homeodomain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial clubfoot due to PITX1 point mutation"	None
Epithelial recurrent erosion dystrophy	corneal erosions, recurring hereditary//dystrophia helsinglandica//dystrophia smolandiensis//epithelial recurrent erosion dystrophy of cornea//ered//recurrent hereditary corneal erosions	COL17A1	COL17A1	https://raresource.nih.gov/literature/disease/0017338	0017338	122400	293381	C1852551	C565155	collagen type XVII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epithelial recurrent erosion dystrophy"	15
PYCR1-related de Barsy syndrome	arcl3b//autosomal recessive cutis laxa type iiib//cutis laxa, autosomal recessive, type iiib//de barsy syndrome b//de barsy syndrome caused by mutation in pycr1//disorder due to pyrroline-5-carboxylate reductase 1 deficiency//pycr1 de barsy syndrome//pycr1 deficiency//pyrroline-5-carboxylate reductase 1 deficiency//pyrroline-5-carboxylate reductase 1 related de barsy syndrome	PYCR1	PYCR1	https://raresource.nih.gov/literature/disease/0017340	0017340	614438	293633	C3280799		pyrroline-5-carboxylate reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PYCR1-related de Barsy syndrome"	2
Blepharophimosis - intellectual disability syndrome, MKB type	blepharophimosis-intellectual disability syndrome maat-kievit-brunner type//blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type//blepharophimosis-mental retardation syndrome, maat-kievit-brunner type//bmrs, maat-kievit-brunner type//bmrs, mkb type//ohdo syndrome, maat-kievit-brunner type//ohdo syndrome, x-linked//ohdo syndrome, x-linked, x-linked recessive//x-linked ohdo syndrome	MED12	MED12	https://raresource.nih.gov/literature/disease/0017341	0017341	300895	293707	C3698541		mediator complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis - intellectual disability syndrome, MKB type"	10
Congenital dyserythropoietic anemia type 4	anemia, congenital dyserythropoietic, type iva//cda due to klf1 mutation//cda iv//cda type 4//cda type iv//cda, type iva//cdan4//congenital dyserythropoietic anaemia due to klf1 mutation//congenital dyserythropoietic anemia due to klf1 mutation//congenital dyserythropoietic anemia type iv//congenital dyserythropoietic anemia, type iv//dyserythropoietic anemia, congenital, type iv	KLF1	KLF1	https://raresource.nih.gov/literature/disease/0017344	0017344	613673	293825	C3150926		KLF transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia type 4"	23
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form	LDB3;CTNNA3;DSG2;PKP2;TMEM43;LMNA;DSP;JUP;RYR2;TTN;DSC2;TGFB3	LDB3;CTNNA3;DSG2;PKP2;TMEM43;LMNA;DSP;JUP;RYR2;TTN;DSC2;TGFB3	https://raresource.nih.gov/literature/disease/0017345	0017345		293888	C5925017		LIM domain binding 3; catenin alpha 3; desmoglein 2; plakophilin 2; transmembrane protein 43; lamin A/C; desmoplakin; junction plakoglobin; ryanodine receptor 2; titin; desmocollin 2; transforming growth factor beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated arrhythmogenic ventricular dysplasia, left dominant form"	None
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form	LDB3;TGFB3;TTN;RYR2;DSP;LMNA;JUP;DSG2;DSC2;CTNNA3;PKP2;TMEM43	LDB3;TGFB3;TTN;RYR2;DSP;LMNA;JUP;DSG2;DSC2;CTNNA3;PKP2;TMEM43	https://raresource.nih.gov/literature/disease/0017346	0017346		293899	C5925016		LIM domain binding 3; transforming growth factor beta 3; titin; ryanodine receptor 2; desmoplakin; lamin A/C; junction plakoglobin; desmoglein 2; desmocollin 2; catenin alpha 3; plakophilin 2; transmembrane protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"	None
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	familial isolated arrhythmogenic ventricular cardiomyopathy, classic form//familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form//familial isolated arrhythmogenic ventricular dysplasia, classic form	PLN;TGFB3;LDB3;JUP;PKP2;CDH2;TTN;CTNNA3;DSG2;LMNA;DSC2;RYR2;TMEM43;DSP	PLN;TGFB3;LDB3;JUP;PKP2;CDH2;TTN;CTNNA3;DSG2;LMNA;DSC2;RYR2;TMEM43;DSP	https://raresource.nih.gov/literature/disease/0017347	0017347		293910	C5925015		phospholamban; transforming growth factor beta 3; LIM domain binding 3; junction plakoglobin; plakophilin 2; cadherin 2; titin; catenin alpha 3; desmoglein 2; lamin A/C; desmocollin 2; ryanodine receptor 2; transmembrane protein 43; desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated arrhythmogenic ventricular dysplasia, right dominant form"	None
Lethal occipital encephalocele-skeletal dysplasia syndrome	craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	CYP26B1	CYP26B1	https://raresource.nih.gov/literature/disease/0017348	0017348	614416	293925	C3280729		cytochrome P450 family 26 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal occipital encephalocele-skeletal dysplasia syndrome"	None
EDICT syndrome	autosomal dominant keratoconus with early-onset anterior polar cataract//autosomal dominant keratoconus with early-onset anterior polar cataracts//edict//edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome//endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome//endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome//endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome//familial keratoconus with cataract//keratoconus with cataract//keratoconus, familial, with early-onset anterior polar cataract//ktcnct	MIR184	MIR184	https://raresource.nih.gov/literature/disease/0017349	0017349	614303	293936	C3280392		microRNA 184	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EDICT syndrome"	6
Hypoinsulinemic hypoglycemia and body hemihypertrophy	hypoinsulinemic hypoglycemia and hemihypertrophy	AKT2	AKT2	https://raresource.nih.gov/literature/disease/0017352	0017352	240900	293964	C3278384		AKT serine/threonine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoinsulinemic hypoglycemia and body hemihypertrophy"	None
Deficiency in anterior pituitary function - variable immunodeficiency syndrome	david (deficiency in anterior pituitary function, variable immunodeficiency) syndrome//david syndrome	NFKB2	NFKB2	https://raresource.nih.gov/literature/disease/0017353	0017353		293978	C4751122		nuclear factor kappa B subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency in anterior pituitary function - variable immunodeficiency syndrome"	10
Microcephaly-capillary malformation syndrome	mic-cap syndrome//mic-cm syndrome//miccap//microcephaly-cutaneous capillary malformation syndrome	STAMBP	STAMBP	https://raresource.nih.gov/literature/disease/0017354	0017354	614261	294016	C3280296		STAM binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-capillary malformation syndrome"	17
Neonatal inflammatory skin and bowel disease	inflammatory skin and bowel disease, neonatal	ADAM17;EGFR	ADAM17;EGFR	https://raresource.nih.gov/literature/disease/0017355	0017355		294023	C4751120		ADAM metallopeptidase domain 17; epidermal growth factor receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal inflammatory skin and bowel disease"	5
Renal-hepatic-pancreatic dysplasia	ivemark ii syndrome//ivemark's syndrome//renohepaticopancreatic dysplasia//rhpd	NEK8;NPHP3	NEK8;NPHP3	https://raresource.nih.gov/literature/disease/0017356	0017356		294415	C2673883		NIMA related kinase 8; nephrocystin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal-hepatic-pancreatic dysplasia"	67
Synpolydactyly type 1	hoxd13 non-syndromic synpolydactyly//non-syndromic synpolydactyly caused by mutation in hoxd13//sd2, vordingborg type//sd2a//spd, vordingborg type//spd1//synpolydactyly, vordingborg type	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0017358	0017358	186000	295195	C5574994		homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Synpolydactyly type 1"	5
Synpolydactyly type 2	sd2, debeer type//sd2b//spd, debeer type//spd2//synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses//synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses//synpolydactyly, debeer type	FBLN1	FBLN1	https://raresource.nih.gov/literature/disease/0017359	0017359	608180	295197	C1842422	C564278	fibulin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Synpolydactyly type 2"	1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2	eds with progressive kyphoscoliosis, myopathy, and deafness//eds with progressive kyphoscoliosis, myopathy, and hearing loss//eds, kyphoscoliotic and hearing loss type//ehlers-danlos syndrome with kyphoscoliosis, myopathy, and deafness//ehlers-danlos syndrome with kyphoscoliosis, myopathy, and hearing loss//ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness//ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss//ehlers-danlos syndrome, kyphoscoliotic and deafness type//ehlers-danlos syndrome, kyphoscoliotic and hearing loss type//fkbp14-related eds//fkbp22-deficient eds//keds-fkbp14//kyphoscoliotic eds due to fkbp22 deficiency//kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency	FKBP14	FKBP14	https://raresource.nih.gov/literature/disease/0017361	0017361	614557	300179	C3281160		FKBP prolyl isomerase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	1
Bone fragility with contractures, arterial rupture, and deafness	bcard syndrome//bone abnormalities, cataract, arterial rupture, and deafness//bone fragility-contractures-arterial rupture-deafness syndrome//bone fragility-contractures-arterial rupture-hearing loss syndrome//connective tissue disorder due to lh3 deficiency//connective tissue disorder due to lysyl hydroxylase-3 deficiency//lh3 deficiency//lysyl hydroxylase 3 deficiency	PLOD3	PLOD3	https://raresource.nih.gov/literature/disease/0017362	0017362	612394	300284	C2676285	C567320	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bone fragility with contractures, arterial rupture, and deafness"	5
Transient infantile hypertriglyceridemia and hepatosteatosis	transient infantile hypertriglyceridemia and fatty liver	GPD1	GPD1	https://raresource.nih.gov/literature/disease/0017363	0017363	614480	300293	C3280953		glycerol-3-phosphate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transient infantile hypertriglyceridemia and hepatosteatosis"	None
Severe congenital hypochromic anemia with ringed sideroblasts	anemia, hypochromic microcytic, with iron overload type 2//hypochromic microcytic anemia with iron overload 2//severe congenital hypochromic sideroblastic anaemia//severe congenital hypochromic sideroblastic anemia	STEAP3	STEAP3	https://raresource.nih.gov/literature/disease/0017364	0017364	615234	300298	C3808920		STEAP3 metalloreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe congenital hypochromic anemia with ringed sideroblasts"	None
Huppke-Brendel syndrome	acetyl coa transporter deficiency//acetyl-coa transporter deficiency//congenital cataract, deafness, severe developmental delay syndrome//congenital cataract, hearing loss, severe developmental delay syndrome//congenital cataract-deafness-severe developmental delay syndrome//congenital cataract-hearing loss-severe developmental delay syndrome//congenital cataracts, hearing loss, and neurodegeneration//lethal neurodegenerative disorder due to copper transport defect	SLC33A1	SLC33A1	https://raresource.nih.gov/literature/disease/0017365	0017365	614482	300313	C4751114		solute carrier family 33 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huppke-Brendel syndrome"	6
Epidermolysis bullosa simplex 7, with nephropathy and deafness	ebs with nephropathy//epidermolysis bullosa simplex with nephropathy//nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome//nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome//nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome//nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome	CD151	CD151	https://raresource.nih.gov/literature/disease/0017367	0017367	609057	300333	C1836823	C563798	CD151 molecule (Raph blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 7, with nephropathy and deafness"	None
Autosomal systemic lupus erythematosus type 16	autosomal sle//autosomal systemic lupus erythematosus//familial sle//familial systemic lupus erythematosus//sleb16//systemic lupus erythematosus 16//systemic lupus erythematosus related to dnase1l3//systemic lupus erythematosus type 16	DNASE1L3	DNASE1L3	https://raresource.nih.gov/literature/disease/0017368	0017368	614420	300345	C3280742		deoxyribonuclease 1L3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal systemic lupus erythematosus type 16"	69
Familial cold autoinflammatory syndrome 3	antibody deficiency and immune dysregulation, plcg2-associated//facu//familial atypical cold urticaria//familial cold autoinflammatory syndrome caused by mutation in plcg2//familial cold autoinflammatory syndrome type 3//familial cold urticaria with common variable immunodeficiency//fcas3//plaid//plcg2 familial cold autoinflammatory syndrome//plcg2-associated antibody deficiency and immune dysregulation	PLCG2	PLCG2	https://raresource.nih.gov/literature/disease/0017369	0017369	614468	300359	C3280914		phospholipase C gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cold autoinflammatory syndrome 3"	20
Progeroid and marfanoid aspect-lipodystrophy syndrome	marfan lipodystrophy syndrome//marfan-progeroid-lipodystrophy syndrome//marfanoid-progeroid syndrome//marfanoid-progeroid-lipodystrophy syndrome	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0017371	0017371	616914	300382	C4310796		fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progeroid and marfanoid aspect-lipodystrophy syndrome"	6
Pseudohypoaldosteronism type 2D	klhl3 pseudohypoaldosteronism type 2//pha2d//pseudohypoaldosteronism type 2 caused by mutation in klhl3//pseudohypoaldosteronism type iid//pseudohypoaldosteronism, type iid, autosomal dominant or recessive	KLHL3	KLHL3	https://raresource.nih.gov/literature/disease/0017372	0017372	614495	300525	C3469605		kelch like family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism type 2D"	1
Pseudohypoaldosteronism type 2E	cul3 pseudohypoaldosteronism type 2//pha2e//pseudohypoaldosteronism type 2 caused by mutation in cul3//pseudohypoaldosteronism type iie	CUL3	CUL3	https://raresource.nih.gov/literature/disease/0017373	0017373	614496	300530	C3469606		cullin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism type 2E"	4
Autosomal recessive infantile hypercalcemia	autosomal recessive hypercalcemia, infantile//familial infantile hypercalcemia with suppressed intact parathyroid hormone//hypercalcemia disease of infancy//hypercalcemia, idiopathic, of infancy//hypercalcemia, infantile//hypercalcemia, infantile, autosomal recessive//idiopathic infantile hypercalcemia//infantile hypercalcemia//infantile hypercalcemia disease//infantile onset hypercalcemia disease	CYP24A1;SLC34A1	CYP24A1;SLC34A1	https://raresource.nih.gov/literature/disease/0017374	0017374		300547	C4329374	C562999	cytochrome P450 family 24 subfamily A member 1; solute carrier family 34 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive infantile hypercalcemia"	161
Complex cortical dysplasia with other brain malformations 7	cdcbm7//complex cortical dysplasia with other brain malformations caused by mutation in tubb2b//complex cortical dysplasia with other brain malformations type 7//polymicrogyria due to tubb2b mutation//tubb2b complex cortical dysplasia with other brain malformations	TUBB2B	TUBB2B	https://raresource.nih.gov/literature/disease/0017375	0017375	610031	300573	C3552236		tubulin beta 2B class IIb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complex cortical dysplasia with other brain malformations 7"	1
Oligodontia-cancer predisposition syndrome	autosomal dominant ectodermal dysplasia-cancer predisposition syndrome//odcrcs//oligodontia-colorectal cancer syndrome//tooth agenesis-colorectal cancer syndrome	AXIN2	AXIN2	https://raresource.nih.gov/literature/disease/0017376	0017376			C1837750	C563898	axin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oligodontia-cancer predisposition syndrome"	5
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	congenital ilneb (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome//congenital ilneb syndrome//congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome//congenital nep syndrome//congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome//congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome//congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome//congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome//ilneb syndrome//interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital//interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome//jeb with interstitial lung disease and nephrotic syndrome//jeb with respiratory and renal involvement//jeb-rr//junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome//pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	ITGA3	ITGA3	https://raresource.nih.gov/literature/disease/0017377	0017377	614748	306504	C4518785		integrin subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	4
Hereditary spastic paraplegia 48	ap5z1 hereditary spastic paraplegia//autosomal recessive spastic paraplegia 48//autosomal recessive spastic paraplegia type 48//hereditary spastic paraplegia caused by mutation in ap5z1//hereditary spastic paraplegia type 48//spastic paraplegia 48//spastic paraplegia 48, autosomal recessive//spg48	AP5Z1	AP5Z1	https://raresource.nih.gov/literature/disease/0017378	0017378	613647	306511	C3150901		adaptor related protein complex 5 subunit zeta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 48"	2
Congenital hereditary facial paralysis-variable hearing loss syndrome	congenital hereditary facial palsy with variable deafness//congenital hereditary facial palsy with variable hearing loss//congenital hereditary facial paralysis with variable deafness//congenital hereditary facial paralysis with variable hearing loss syndrome//congenital hereditary facial paralysis-variable deafness syndrome	HOXB1	HOXB1	https://raresource.nih.gov/literature/disease/0017379	0017379		306530	C4302592		homeobox B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital hereditary facial paralysis-variable hearing loss syndrome"	None
Porencephaly-microcephaly-bilateral congenital cataract syndrome		JAM3	JAM3	https://raresource.nih.gov/literature/disease/0017380	0017380	613730	306547	C3151000		junctional adhesion molecule 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porencephaly-microcephaly-bilateral congenital cataract syndrome"	None
Methylcobalamin deficiency type cblDv1	functional methionine synthase deficiency type cbldv1	MMADHC	MMADHC	https://raresource.nih.gov/literature/disease/0017385	0017385		308380	C5679956		metabolism of cobalamin associated D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylcobalamin deficiency type cblDv1"	None
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a//mocod type a//mocoda//molybdenum cofactor deficiency a//molybdenum cofactor deficiency complementation group a//molybdenum cofactor deficiency, complementation group a//molybdenum cofactor deficiency, complementation group type a	MOCS1	MOCS1	https://raresource.nih.gov/literature/disease/0017386	0017386	252150	308386	C1854988	C565372	molybdenum cofactor synthesis 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b//mocod type b//mocodb//molybdenum cofactor deficiency b//molybdenum cofactor deficiency complementation group b//molybdenum cofactor deficiency, complementation group b//molybdenum cofactor deficiency, complementation group type b//molybdenum cofactor deficiency, type b1	MOCS2	MOCS2	https://raresource.nih.gov/literature/disease/0017387	0017387	252160	308393	C1854989	C565373	molybdenum cofactor synthesis 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c//mocod type c//mocodc//molybdenum cofactor deficiency c//molybdenum cofactor deficiency complementation group c//molybdenum cofactor deficiency, complementation group c//molybdenum cofactor deficiency, complementation group type c	GPHN	GPHN	https://raresource.nih.gov/literature/disease/0017388	0017388	615501	308400	C1854990	C565374	gephyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"	None
Branched-chain keto acid dehydrogenase kinase deficiency	autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency//autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency//bckdk deficiency//bckdkd	BCKDK	BCKDK	https://raresource.nih.gov/literature/disease/0017389	0017389	614923	308410	C3554078		branched chain keto acid dehydrogenase kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branched-chain keto acid dehydrogenase kinase deficiency"	9
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	deficiency of methylmalonyl-coa epimerase//deficiency of methylmalonyl-coa racemase//deficiency of methylmalonyl-coenzyme a epimerase//deficiency of methylmalonyl-coenzyme a racemase//mcee deficiency//mcee-related methylmalonic acidemia//methylmalonic acidemia due to methylmalonyl-coa racemase deficiency//methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency//methylmalonic aciduria due to methylmalonyl-coa racemase deficiency//methylmalonic aciduria iii//methylmalonyl-coa racemase deficiency	MCEE	MCEE	https://raresource.nih.gov/literature/disease/0017390	0017390	251120	308425	C1855100	C565386	methylmalonyl-CoA epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"	2
Vitamin B12-responsive methylmalonic acidemia, type cblDv2	vitamin b12-responsive methylmalonic aciduria, type cbldv2	MMADHC	MMADHC	https://raresource.nih.gov/literature/disease/0017391	0017391		308442	C1848554		metabolism of cobalamin associated D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin B12-responsive methylmalonic acidemia, type cblDv2"	None
Erythrocyte galactose epimerase deficiency	erythrocyte epimerase deficiency galactosemia//erythrocyte gale deficiency//erythrocyte gale-d//erythrocyte udp-galactose-4-epimerase deficiency//erythrocyte uridine diphosphate galactose-4-epimerase deficiency	GALE	GALE	https://raresource.nih.gov/literature/disease/0017392	0017392		308473	C0574090		UDP-galactose-4-epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrocyte galactose epimerase deficiency"	None
Generalized galactose epimerase deficiency	generalised epimerase deficiency galactosemia//generalised gale deficiency//generalised gale-d//generalised udp-galactose-4-epimerase deficiency//generalised uridine diphosphate galactose-4-epimerase deficiency//generalized epimerase deficiency galactosemia//generalized gale deficiency//generalized gale-d//generalized udp-galactose-4-epimerase deficiency//generalized uridine diphosphate galactose-4-epimerase deficiency	GALE	GALE	https://raresource.nih.gov/literature/disease/0017393	0017393		308487	C0574089		UDP-galactose-4-epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized galactose epimerase deficiency"	2
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	gbe deficiency, progressive hepatic form//glycogen storage disease type 4, progressive hepatic form//glycogen storage disease type iv, progressive hepatic form//glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form//glycogenosis type 4, progressive hepatic form//glycogenosis type iv, progressive hepatic form//gsd due to glycogen branching enzyme deficiency, progressive hepatic form//gsd type 4, progressive hepatic form//gsdiv, progressive hepatic form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017394	0017394		308621	C5679972		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"	None
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	gbe deficiency, non progressive hepatic form//glycogen storage disease type 4, non progressive hepatic form//glycogen storage disease type iv, non progressive hepatic form//glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form//glycogenosis type 4, non progressive hepatic form//glycogenosis type iv, non progressive hepatic form//gsd due to glycogen branching enzyme deficiency, non progressive hepatic form//gsd iv, nonprogressive hepatic form//gsd type 4, non progressive hepatic form//gsdiv, non progressive hepatic form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017395	0017395		308638	C1856302		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"	None
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	gbe deficiency, fatal perinatal neuromuscular form//glycogen storage disease iv, fatal perinatal neuromuscular//glycogen storage disease type 4, fatal perinatal neuromuscular form//glycogen storage disease type iv, fatal perinatal neuromuscular form//glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form//glycogenosis type 4, fatal perinatal neuromuscular form//glycogenosis type iv, fatal perinatal neuromuscular form//gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form//gsd iv, neuromuscular form, fatal perinatal//gsd type 4, fatal perinatal neuromuscular form//gsdiv, fatal perinatal neuromuscular form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017396	0017396		308655	C1856303		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"	None
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	gbe deficiency, congenital neuromuscular form//glycogen storage disease iv, congenital neuromuscular//glycogen storage disease type 4, congenital neuromuscular form//glycogen storage disease type iv, congenital neuromuscular form//glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form//glycogenosis type 4, congenital neuromuscular form//glycogenosis type iv, congenital neuromuscular form//gsd due to glycogen branching enzyme deficiency, congenital neuromuscular form//gsd iv, neuromuscular form, congenital//gsd type 4, congenital neuromuscular form//gsdiv, congenital neuromuscular form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017397	0017397		308670	C1856304		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"	None
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	gbe deficiency, childhood combined hepatic and myopathic form//glycogen storage disease type 4, childhood combined hepatic and myopathic form//glycogen storage disease type iv, childhood combined hepatic and myopathic form//glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form//glycogenosis type 4, childhood combined hepatic and myopathic form//glycogenosis type iv, childhood combined hepatic and myopathic form//gsd due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form//gsd type 4, childhood combined hepatic and myopathic form//gsdiv, childhood combined hepatic and myopathic form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017398	0017398		308684	C5679969		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"	None
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	gbe deficiency, childhood neuromuscular form//glycogen storage disease iv, childhood neuromuscular//glycogen storage disease type 4, childhood neuromuscular form//glycogen storage disease type iv, childhood neuromuscular form//glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form//glycogenosis type 4, childhood neuromuscular form//glycogenosis type iv, childhood neuromuscular form//gsd due to glycogen branching enzyme deficiency, childhood neuromuscular form//gsd iv, neuromuscular form, childhood//gsd type 4, childhood neuromuscular form//gsdiv, childhood neuromuscular form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017399	0017399		308698	C1856305		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"	None
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	gbe deficiency, adult neuromuscular form//glycogen storage disease type 4, adult neuromuscular form//glycogen storage disease type iv, adult neuromuscular form//glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form//glycogenosis type 4, adult neuromuscular form//glycogenosis type iv, adult neuromuscular form//gsd due to glycogen branching enzyme deficiency, adult neuromuscular form//gsd iv, neuromuscular form, adult, with isolated myopathy//gsd type 4, adult neuromuscular form//gsdiv, adult neuromuscular form	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0017400	0017400		308712	C1856306		1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"	None
Pancreatic triacylglycerol lipase deficiency	lipase, congenital absence of pancreatic//pancreatic triglyceride lipase deficiency//pl deficiency	PNLIP	PNLIP	https://raresource.nih.gov/literature/disease/0017401	0017401	614338	309031	C3280527		pancreatic lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic triacylglycerol lipase deficiency"	3
Sandhoff disease, juvenile form	hexosaminidases a and b deficiency, juvenile form//juvenile gm2 gangliosidosis 0 variant//sandhoff disease, juvenile type	HEXB	HEXB	https://raresource.nih.gov/literature/disease/0017404	0017404		309162	C0751491		hexosaminidase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sandhoff disease, juvenile form"	None
Sandhoff disease, adult form	adult gm2 gangliosidosis 0 variant//adult sandhoff disease//hexosaminidases a and b deficiency, adult form//sandhoff disease of adults//sandhoff disease, adult type	HEXB	HEXB	https://raresource.nih.gov/literature/disease/0017405	0017405		309169	C0751489		hexosaminidase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sandhoff disease, adult form"	6
Tay-Sachs disease, variant AB	ab variant//gm2 activator deficiency//gm2 gangliosidosis, ab variant//gm2-gangliosidosis, ab variant//gm>2< gangliosidosis, type ab//hexosaminidase activator deficiency//tay-sachs disease ab variant	GM2A	GM2A	https://raresource.nih.gov/literature/disease/0017406	0017406	272750	309246	C0268275	D049290	ganglioside GM2 activator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tay-Sachs disease, variant AB"	16
Alpha-mannosidosis, infantile form	infantile mannosidosis//lysosomal alpha-d-mannosidase deficiency, infantile form//mannosidosis infantile onset//mannosidosis, severe form//mannosidosis, type i	MAN2B1	MAN2B1	https://raresource.nih.gov/literature/disease/0017407	0017407		309282	C0342847		mannosidase alpha class 2B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-mannosidosis, infantile form"	None
Alpha-mannosidosis, adult form	lysosomal alpha-d-mannosidase deficiency, adult form	MAN2B1	MAN2B1	https://raresource.nih.gov/literature/disease/0017408	0017408		309288	C5679974		mannosidase alpha class 2B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-mannosidosis, adult form"	None
Spastic ataxia 5	afg3l2 (afg3 like matrix aaa peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome//afg3l2 autosomal recessive spastic ataxia//afg3l2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome//afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome//afg3l2-related spastic ataxia-neuropathy syndrome//autosomal recessive spastic ataxia caused by mutation in afg3l2//autosomal recessive spastic ataxia type 5//early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome//early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome//spastic ataxia type 5//spax5	AFG3L2	AFG3L2	https://raresource.nih.gov/literature/disease/0017409	0017409	614487	313772	C3280977		AFG3 like matrix AAA peptidase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 5"	8
Jawad syndrome	jwds//kelly syndrome//microcephaly with impaired intellectual development and digital anomalies	RBBP8	RBBP8	https://raresource.nih.gov/literature/disease/0017410	0017410	251255	313795	C0796063		RB binding protein 8, endonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jawad syndrome"	6
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	optic nerve edema, splenomegaly syndrome//optic nerve edema-splenomegaly syndrome//retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache//retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome//rosah//rosah syndrome//splenomegaly, cytopenia, and vision loss	ALPK1	ALPK1	https://raresource.nih.gov/literature/disease/0017411	0017411	614979	313800	C4749914		alpha kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"	24
Coats plus syndrome	cerebroretinal microangiopathy with calcfications and cysts//cerebroretinal microangiopathy with calcifications and cysts//crmcc	CTC1;STN1	CTC1;STN1	https://raresource.nih.gov/literature/disease/0017412	0017412		313838	C2677299	C567401	CST telomere replication complex component 1; STN1 subunit of CST complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coats plus syndrome"	58
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	ATR	ATR	https://raresource.nih.gov/literature/disease/0017413	0017413	614564	313846	C3281203		ATR checkpoint kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"	None
Developmental and speech delay due to SOX5 deficiency	developmental and speech delay due to sox5 (sry-box 5) deficiency//developmental and speech delay due to sry-box 5 deficiency	SOX5	SOX5	https://raresource.nih.gov/literature/disease/0017415	0017415		313892	C4749915		SRY-box transcription factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and speech delay due to SOX5 deficiency"	None
Gastric adenocarcinoma and proximal polyposis of the stomach	apc-related gastric adenocarcinoma and proximal polyposis of the stomach//familial fundic gland polyposis with gastric cancer//fundic gland polyposis//gapps//gapps - gastric adenocarcinoma and proximal polyposis of stomach//gastric adenocarcinoma and proximal polyposis of stomach//polyposis, gastric//polyposis, gastric, dos santos and de magalhaes 1980	APC	APC	https://raresource.nih.gov/literature/disease/0017416	0017416	619182	314022	C4749917		APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gastric adenocarcinoma and proximal polyposis of the stomach"	107
Congenital diarrhea 6	chronic diarrhea due to guanylate cyclase 2c overactivity//chronic diarrhoea due to guanylate cyclase 2c overactivity//chronic infantile diarrhea due to guanylate cyclase 2c overactivity//congenital diarrhea caused by mutation in gucy2c//congenital diarrhea type 6//congenital diarrhoea caused by mutation in gucy2c//congenital diarrhoea type 6//diarrhea type 6//diarrhoea type 6//gucy2c congenital diarrhea//gucy2c congenital diarrhoea	GUCY2C	GUCY2C	https://raresource.nih.gov/literature/disease/0017417	0017417	614616	314373	C3553270		guanylate cyclase 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital diarrhea 6"	None
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	gucy2c meconium ileus//intestinal obstruction in newborn due to guanylate cyclase 2c deficiency//meconium ileus caused by mutation in gucy2c//meconium ileus due to guanylate cyclase 2c deficiency	GUCY2C	GUCY2C	https://raresource.nih.gov/literature/disease/0017418	0017418	614665	314376	C4518781		guanylate cyclase 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"	None
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	short stature, onychodysplasia, facial dysmorphism, and hypotrichosis//soft (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome//soft syndrome	POC1A	POC1A	https://raresource.nih.gov/literature/disease/0017419	0017419	614813	314394	C3542022		POC1 centriolar protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"	15
Autosomal dominant aplasia and myelodysplasia	autosomal dominant aplastic anaemia and myelodysplasia//autosomal dominant aplastic anemia and myelodysplasia//bone marrow failure syndrome 1//bone marrow failure syndrome type 1	SRP72	SRP72	https://raresource.nih.gov/literature/disease/0017420	0017420	614675	314399	C3808553		signal recognition particle 72	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant aplasia and myelodysplasia"	1
Neuronopathy, distal hereditary motor, autosomal recessive 5	autosomal recessive distal spinal muscular atrophy type 5//dsma5//neuropathy, distal hereditary motor, autosomal recessive 5//spinal muscular atrophy, distal, autosomal recessive, 5//spinal muscular atrophy, distal, autosomal recessive, type 5//young adult-onset dhmn//young adult-onset distal hereditary motor neuropathy	DNAJB2	DNAJB2	https://raresource.nih.gov/literature/disease/0017421	0017421	614881	314485	C4749918		DnaJ heat shock protein family (Hsp40) member B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 5"	None
Craniofacial dysplasia - osteopenia syndrome	facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome//hamamy syndrome	IRX5	IRX5	https://raresource.nih.gov/literature/disease/0017422	0017422	611174	314555	C1970027	C566988	iroquois homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniofacial dysplasia - osteopenia syndrome"	10
Spastic ataxia 3	arsal//arsal - autosomal recessive spastic ataxia with leukoencephalopathy//ataxia, spastic, 3, autosomal recessive//autosomal recessive spastic ataxia caused by mutation in mars2//autosomal recessive spastic ataxia type 3//autosomal recessive spastic ataxia with leukoencephalopathy//mars2 autosomal recessive spastic ataxia//spastic ataxia type 3//spax3//spax3 - autosomal recessive spastic ataxia type 3	MARS2	MARS2	https://raresource.nih.gov/literature/disease/0017425	0017425	611390	314603	C1969645	C566956	methionyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 3"	1
Neuronal ceroid lipofuscinosis 11	ceroid lipofuscinosis, neuronal, type 11//cln11//cln11 disease//grn neuronal ceroid lipofuscinosis//grn-related neuronal ceroid-lipofuscinosis//neuronal ceroid lipofuscinosis caused by mutation in grn//neuronal ceroid lipofuscinosis type 11	GRN	GRN	https://raresource.nih.gov/literature/disease/0017426	0017426	614706	314629	C3539123		granulin precursor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 11"	13
Parkinsonism due to ATP13A2 deficiency	atp13a2-related juvenile neuronal ceroid lipofuscinosis//cln12 disease//juvenile parkinsonism-neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	https://raresource.nih.gov/literature/disease/0017427	0017427		314632	CN203776		ATPase cation transporting 13A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinsonism due to ATP13A2 deficiency"	1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis//combined oxidative phosphorylation defect type 10//combined oxidative phosphorylation deficiency 10//combined oxidative phosphorylation deficiency caused by mutation in mto1//combined oxidative phosphorylation deficiency type 10//coxpd10//coxpd10 - combined oxidative phosphorylation defect type 10//mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency//mto1 combined oxidative phosphorylation deficiency	MTO1	MTO1	https://raresource.nih.gov/literature/disease/0017428	0017428	614702	314637	C4749921		mitochondrial tRNA translation optimization 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	3
Cerebellar dysfunction with variable cognitive and behavioral abnormalities	camta1-related disorder//canpmr//cecba//cerebellar ataxia, nonprogressive, with intellectual disability//cerebellar ataxia, nonprogressive, with mental retardation//non-progressive cerebellar ataxia with intellectual disability//nonprogressive cerebellar ataxia with intellectual disability//nonprogressive cerebellar ataxia with mental retardation//nonprogressive cerebellar atxia with intellectual disability	CAMTA1	CAMTA1	https://raresource.nih.gov/literature/disease/0017429	0017429	614756	314647	C3553661		calmodulin binding transcription activator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar dysfunction with variable cognitive and behavioral abnormalities"	2
Combined immunodeficiency due to STK4 deficiency	cid due to stk4 deficiency//imd110//mst1 deficiency//stk4 deficiency//t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations//t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations//tiiac	STK4	STK4	https://raresource.nih.gov/literature/disease/0017430	0017430	614868	314689	C3553943		serine/threonine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to STK4 deficiency"	48
Lethal arteriopathy syndrome due to fibulin-4 deficiency		EFEMP2	EFEMP2	https://raresource.nih.gov/literature/disease/0017432	0017432		314718	C5190604		EGF containing fibulin extracellular matrix protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal arteriopathy syndrome due to fibulin-4 deficiency"	None
Atypical dentin dysplasia due to SMOC2 deficiency	atypical dentin dysplasia due to sparc related modular calcium binding 2 deficiency//dentin dysplasia type 1 with microdontia and shape anomalies	SMOC2	SMOC2	https://raresource.nih.gov/literature/disease/0017433	0017433		314721	C5190802		SPARC related modular calcium binding 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical dentin dysplasia due to SMOC2 deficiency"	None
SHOX-related short stature	short stature, idiopathic familial//short stature, idiopathic, x-linked	SHOX	SHOX	https://raresource.nih.gov/literature/disease/0017434	0017434	300582	314795	C1845118	C564479	SHOX homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SHOX-related short stature"	1
Short stature due to partial GHR deficiency	growth hormone deficiency, isolated partial//growth hormone insensitivity, partial//growth hormone, insensitivity to, partial//short stature due to partial growth hormone receptor deficiency	GHR	GHR	https://raresource.nih.gov/literature/disease/0017435	0017435	604271	314802	C1858656	C565805	growth hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature due to partial GHR deficiency"	None
Short stature due to growth hormone secretagogue receptor deficiency	ghdp//ghrelin receptor deficiency//short stature due to ghsr deficiency	GHSR	GHSR	https://raresource.nih.gov/literature/disease/0017436	0017436	615925	314811	C5887324		growth hormone secretagogue receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature due to growth hormone secretagogue receptor deficiency"	4
Severe Canavan disease	infantile canavan disease//neonatal canavan disease	ASPA	ASPA	https://raresource.nih.gov/literature/disease/0017437	0017437		314911	C5575558		aspartoacylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe Canavan disease"	None
Mild Canavan disease	juvenile canavan disease	ASPA	ASPA	https://raresource.nih.gov/literature/disease/0017438	0017438		314918	C4017127		aspartoacylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild Canavan disease"	2
X-linked non progressive cerebellar ataxia	scax5//spinocerebellar ataxia, x-linked 5//spinocerebellar ataxia, x-linked 5, x-linked recessive//x-linked spinocerebellar ataxia type 5	ATP2B3	ATP2B3	https://raresource.nih.gov/literature/disease/0017439	0017439	300703	314978	C2678048	C567478	ATPase plasma membrane Ca2+ transporting 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked non progressive cerebellar ataxia"	None
Severe combined immunodeficiency due to DNA-PKcs deficiency	immunodeficiency 26 with neurologic abnormalities//immunodeficiency 26 with or without neurologic abnormalities//immunodeficiency 26, with or without neurologic abnormalities//scid due to dna-pkcs deficiency	PRKDC	PRKDC	https://raresource.nih.gov/literature/disease/0017441	0017441	615966	317425	C4014833		protein kinase, DNA-activated, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to DNA-PKcs deficiency"	None
Pancytopenia due to IKZF1 mutations	cid due to ikaros deficiency//combined immunodeficiency due to ikaros deficiency//cvid13//ikzf1 syndrome with combined immunodeficiency//immunodeficiency, common variable, 13//immunodeficiency, common variable, type 13//syndrome with combined immunodeficiency caused by mutation in ikzf1	IKZF1	IKZF1	https://raresource.nih.gov/literature/disease/0017442	0017442	616873	317473	C4225173		IKAROS family zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancytopenia due to IKZF1 mutations"	None
Congenital myopathy with internal nuclei and atypical cores	centronuclear myopathy 4//centronuclear myopathy type 4//cnm4//myopathy, centronuclear, 4//myopathy, centronuclear, type 4	CCDC78	CCDC78	https://raresource.nih.gov/literature/disease/0017443	0017443	614807	319160	C4707232		coiled-coil domain containing 78	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy with internal nuclei and atypical cores"	1
Myoclonus, familial	familial cortical myoclonus//familial myoclonus//myoclonus, familial cortical	NOL3	NOL3	https://raresource.nih.gov/literature/disease/0017444	0017444		319189	CN263131		nucleolar protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonus, familial"	11
Hereditary spastic paraplegia 53	autosomal recessive complex spastic paraplegia caused by mutation in vps37a//autosomal recessive spastic paraplegia 53//autosomal recessive spastic paraplegia type 53//hereditary spastic paraplegia type 53//spastic paraplegia 53, autosomal recessive//spg53//vps37a autosomal recessive complex spastic paraplegia	VPS37A	VPS37A	https://raresource.nih.gov/literature/disease/0017445	0017445	614898	319199	C3539494		VPS37A subunit of ESCRT-I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 53"	None
Autosomal recessive myogenic arthrogryposis multiplex congenita	autosomal recessive myogenic amc//syne1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita//syne1-related amc//syne1-related arthrogryposis multiplex congenita	SYNE1	SYNE1	https://raresource.nih.gov/literature/disease/0017447	0017447		319332	C4707155		spectrin repeat containing nuclear envelope protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive myogenic arthrogryposis multiplex congenita"	None
Carney complex - trismus - pseudocamptodactyly syndrome	carney complex variant	MYH8	MYH8	https://raresource.nih.gov/literature/disease/0017448	0017448	608837	319340	C1837245		myosin heavy chain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carney complex - trismus - pseudocamptodactyly syndrome"	None
Fanconi anemia complementation group D1	brca2-related fanconi anemia//fad1//fancd1//inherited cancer-predisposing syndrome due to biallelic brca2 mutations	BRCA2	BRCA2	https://raresource.nih.gov/literature/disease/0017449	0017449	605724	319462	C1838457	C563980	BRCA2 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia complementation group D1"	1
Inherited acute myeloid leukemia	familial aml//hereditary acute myeloid leukaemia//hereditary acute myeloid leukemia//inherited aml//pure familial acute myeloid leukaemia//pure familial acute myeloid leukemia//pure familial aml	TGM6;CEBPA;ERCC6L2	TGM6;CEBPA;ERCC6L2	https://raresource.nih.gov/literature/disease/0017450	0017450		319465	C4707228		transglutaminase 6; CCAAT enhancer binding protein alpha; ERCC excision repair 6 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inherited acute myeloid leukemia"	24
Acute myeloid leukemia with CEBPA somatic mutations	acute myeloid leukaemia with mutated cebpa//acute myeloid leukaemia with non-germline mutated cebpa//acute myeloid leukemia with ccaat/enhancer binding protein alpha somatic mutation//acute myeloid leukemia with mutated cebpa//acute myeloid leukemia with non-germline mutated cebpa//aml with cebpa somatic mutations//aml with mutated cebpa//non-familial acute myeloid leukaemia with mutated cebpa//non-familial acute myeloid leukemia with mutated cebpa	CEBPA	CEBPA	https://raresource.nih.gov/literature/disease/0017451	0017451		319480	C4707178		CCAAT enhancer binding protein alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia with CEBPA somatic mutations"	None
Combined oxidative phosphorylation defect type 8	aars2 combined oxidative phosphorylation deficiency//cardiomyopathy, hypertrophic mitochondrial, fatal infantile//combined oxidative phosphorylation deficiency caused by mutation in aars2//combined oxidative phosphorylation deficiency type 8//coxpd8//coxpd8 - combined oxidative phosphorylation defect type 8	AARS2	AARS2	https://raresource.nih.gov/literature/disease/0017452	0017452	614096	319504	C4518839		alanyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 8"	3
Combined oxidative phosphorylation defect type 9	combined oxidative phosphorylation deficiency caused by mutation in mrpl3//combined oxidative phosphorylation deficiency type 9//coxpd9//coxpd9 - combined oxidative phosphorylation defect type 9//mrpl3 combined oxidative phosphorylation deficiency	MRPL3	MRPL3	https://raresource.nih.gov/literature/disease/0017453	0017453	614582	319509	C4706315		mitochondrial ribosomal protein L3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 9"	1
Combined oxidative phosphorylation defect type 13	combined oxidative phosphorylation deficiency 13//combined oxidative phosphorylation deficiency caused by mutation in pnpt1//combined oxidative phosphorylation deficiency type 13//coxpd13//coxpd13 - combined oxidative phosphorylation defect type 13//pnpt1 combined oxidative phosphorylation deficiency	PNPT1	PNPT1	https://raresource.nih.gov/literature/disease/0017454	0017454	614932	319514	C4706283		polyribonucleotide nucleotidyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 13"	1
Combined oxidative phosphorylation defect type 14	combined oxidative phosphorylation deficiency 14//combined oxidative phosphorylation deficiency caused by mutation in fars2//combined oxidative phosphorylation deficiency type 14//coxpd14//coxpd14 - combined oxidative phosphorylation defect type 14//fars2 combined oxidative phosphorylation deficiency	FARS2	FARS2	https://raresource.nih.gov/literature/disease/0017455	0017455	614946	319519	C4755312		phenylalanyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 14"	3
Combined oxidative phosphorylation defect type 15	combined oxidative phosphorylation deficiency 15//combined oxidative phosphorylation deficiency caused by mutation in mtfmt//combined oxidative phosphorylation deficiency type 15//coxpd15//coxpd15 - combined oxidative phosphorylation defect type 15//mtfmt combined oxidative phosphorylation deficiency	MTFMT	MTFMT	https://raresource.nih.gov/literature/disease/0017456	0017456	614947	319524	C4706313		mitochondrial methionyl-tRNA formyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 15"	None
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ifngr2//ifngr2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency//mendelian susceptibility to mycobacterial disease due to complete ifngammar2 deficiency//mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency//mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency//msmd due to complete ifngammar2 deficiency//msmd due to complete interferon gamma receptor 2 deficiency	IFNGR2	IFNGR2	https://raresource.nih.gov/literature/disease/0017457	0017457		319547	C4303071		interferon gamma receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"	None
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in isg15//immunodeficiency 38//immunodeficiency 38 with basal ganglia calcification//immunodeficiency 38, mycobacteriosis, autosomal recessive//isg15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency//isg15 deficiency, autosomal recessive//msmd due to complete isg15 deficiency	ISG15	ISG15	https://raresource.nih.gov/literature/disease/0017458	0017458	616126	319563	C4015293		ISG15 ubiquitin like modifier	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"	None
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	autosomal recessive mendelian susceptibility to mycobacterial disease due to partial ifngammar1 deficiency//autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency//autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in ifngr1//autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency//autosomal recessive msmd due to partial ifngammar1 deficiency//autosomal recessive msmd due to partial interferon gamma receptor 1 deficiency//ifngr1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	IFNGR1	IFNGR1	https://raresource.nih.gov/literature/disease/0017459	0017459		319569	C4511091		interferon gamma receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	None
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	autosomal recessive mendelian susceptibility to mycobacterial disease due to partial ifngammar2 deficiency//autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency//autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in ifngr2//autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency//autosomal recessive msmd due to partial ifngammar2 deficiency//autosomal recessive msmd due to partial interferon gamma receptor 2 deficiency//ifngr2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	IFNGR2	IFNGR2	https://raresource.nih.gov/literature/disease/0017460	0017460		319574	C4511098		interferon gamma receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"	None
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in ifngr1//autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency//autosomal dominant msmd due to partial ifngammar1 deficiency//autosomal dominant msmd due to partial interferon gamma receptor 1 deficiency//ifngr1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency//ifngr1 deficiency, autosomal dominant//imd27b//immunodeficiency 27b//immunodeficiency 27b, mycobacteriosis, ad//immunodeficiency 27b, mycobacteriosis, autosomal dominant//immunodeficiency type 27b	IFNGR1	IFNGR1	https://raresource.nih.gov/literature/disease/0017461	0017461	615978	319581	C4014863		interferon gamma receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	None
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in stat1//immunodeficiency 31a//immunodeficiency 31a, mycobacteriosis, autosomal dominant//immunodeficiency type 31a//mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency//msmd due to partial signal transducer and activator of transcription 1 deficiency//msmd due to partial stat1 deficiency//stat1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency//stat1 deficiency, autosomal dominant	STAT1	STAT1	https://raresource.nih.gov/literature/disease/0017462	0017462	614892	319595	C4013950		signal transducer and activator of transcription 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"	None
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in irf8//immunodeficiency 32a//immunodeficiency 32a, mycobacteriosis, autosomal dominant//immunodeficiency type 32a//irf8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency//irf8 deficiency, autosomal dominant//mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency//msmd due to partial interferon regulatory factor 8 deficiency//msmd due to partial irf8 deficiency	IRF8	IRF8	https://raresource.nih.gov/literature/disease/0017463	0017463	614893	319600	C3808589		interferon regulatory factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	None
X-linked Mendelian susceptibility to mycobacterial diseases	mendelian susceptibility to mycobacterial diseases, x-linked//x-linked mendelian susceptibility to mycobacterial disease//x-linked msmd	CYBB	CYBB	https://raresource.nih.gov/literature/disease/0017464	0017464		319605	C4304413		cytochrome b-245 beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Mendelian susceptibility to mycobacterial diseases"	None
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	cybb x-linked mendelian susceptibility to mycobacterial diseases//immunodeficiency 34//immunodeficiency 34, mycobacteriosis, x-linked//immunodeficiency 34, mycobacteriosis, x-linked, x-linked recessive//immunodeficiency type 34//x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in cybb//x-linked msmd due to cybb deficiency	CYBB	CYBB	https://raresource.nih.gov/literature/disease/0017465	0017465			C1970859	C567068	cytochrome b-245 beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"	None
Amyloidosis cutis dyschromia	amyloidosis cutis dyschromica	GPNMB	GPNMB	https://raresource.nih.gov/literature/disease/0017466	0017466		319635	C4554601		glycoprotein nmb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis cutis dyschromia"	41
Retinal macular dystrophy type 2	bull's eye macular dystrophy//macular dystrophy, retinal, type 2//mcdr2//mcdr2 - retinal macular dystrophy type 2	PROM1	PROM1	https://raresource.nih.gov/literature/disease/0017467	0017467	608051	319640	C4749334	C562746	prominin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal macular dystrophy type 2"	5
Microcephalic primordial dwarfism, Alazami type	alazami syndrome//facial dysmorphism, intellectual disability, and primordial dwarfism	LARP7	LARP7	https://raresource.nih.gov/literature/disease/0017468	0017468	615071	319671	C3554439		La ribonucleoprotein 7, transcriptional regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic primordial dwarfism, Alazami type"	27
Seckel syndrome 7	microcephalic primordial dwarfism, dauber type//nin seckel syndrome//sckl7//seckel syndrome caused by mutation in nin//seckel syndrome type 7	NIN	NIN	https://raresource.nih.gov/literature/disease/0017469	0017469	614851	319675	C3553870		ninein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 7"	None
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	coenzyme q10 deficiency, primary, type 5//coq9-related coenzyme q10 deficiency	COQ9	COQ9	https://raresource.nih.gov/literature/disease/0017470	0017470	614654	319678	C3553374		coenzyme Q9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"	None
Hereditary spastic paraplegia 43	autosomal recessive complex spastic paraplegia caused by mutation in c19orf12//autosomal recessive spastic paraplegia 43//autosomal recessive spastic paraplegia type 43//c19orf12 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 43//spastic paraplegia 43, autosomal recessive//spg43	C19orf12	C19orf12	https://raresource.nih.gov/literature/disease/0017473	0017473	615043	320370	C2680446		chromosome 19 open reading frame 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 43"	4
Hereditary spastic paraplegia 55	autosomal recessive spastic paraplegia 55//autosomal recessive spastic paraplegia type 55//hereditary spastic paraplegia type 55//spastic paraplegia 55, autosomal recessive//spg55	MTRFR	MTRFR	https://raresource.nih.gov/literature/disease/0017474	0017474	615035	320375	C3539506		mitochondrial translation release factor in rescue	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 55"	1
Hereditary spastic paraplegia 54	autosomal recessive complex spastic paraplegia caused by mutation in ddhd2//autosomal recessive spastic paraplegia 54//autosomal recessive spastic paraplegia type 54//ddhd2 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 54//spastic paraplegia 54, autosomal recessive//spg54	DDHD2	DDHD2	https://raresource.nih.gov/literature/disease/0017475	0017475	615033	320380	C3539495		DDHD domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 54"	7
Hereditary spastic paraplegia 46	autosomal recessive complex spastic paraplegia caused by mutation in gba2//autosomal recessive spastic paraplegia 46//autosomal recessive spastic paraplegia type 46//gba2 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 46//spastic paraplegia 46, autosomal recessive//spg46	GBA2	GBA2	https://raresource.nih.gov/literature/disease/0017476	0017476	614409	320391	C2828721		glucosylceramidase beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 46"	5
Hereditary spastic paraplegia 45	autosomal recessive complex spastic paraplegia caused by mutation in nt5c2//autosomal recessive spastic paraplegia 45//autosomal recessive spastic paraplegia type 45//autosomal recessive spastic paraplegia type 65//hereditary spastic paraplegia type 45//nt5c2 autosomal recessive complex spastic paraplegia//spastic paraplegia 45//spastic paraplegia 45, autosomal recessive//spg45//spg65	NT5C2	NT5C2	https://raresource.nih.gov/literature/disease/0017477	0017477	613162	320396	C3888209		5'-nucleotidase, cytosolic II	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 45"	1
Hereditary spastic paraplegia 44	autosomal recessive complex spastic paraplegia caused by mutation in gjc2//autosomal recessive spastic paraplegia 44//autosomal recessive spastic paraplegia type 44//gjc2 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 44//spastic paraplegia 44//spastic paraplegia 44, autosomal recessive//spg44	GJC2	GJC2	https://raresource.nih.gov/literature/disease/0017478	0017478	613206	320401	C2750784	C567707	gap junction protein gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 44"	6
Spastic paraplegia, optic atropy, and neuropathy	spastic paraplegia, optic atrophy, and neuropathy//spastic paraplegia, optic atrophy, neuropathy syndrome//spastic paraplegia, optic atropy, and neuropathy syndrome//spastic paraplegia-optic atrophy-neuropathy syndrome//spoan//spoan (spastic paraplegia, optic atrophy, neuropathy) syndrome//spoan syndrome	KLC2	KLC2	https://raresource.nih.gov/literature/disease/0017479	0017479	609541	320406	C1836010	C563702	kinesin light chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia, optic atropy, and neuropathy"	12
Hereditary spastic paraplegia 56	autosomal recessive spastic paraplegia 56//autosomal recessive spastic paraplegia type 56//cyp2u1 hereditary spastic paraplegia//hereditary spastic paraplegia caused by mutation in cyp2u1//hereditary spastic paraplegia type 56//spastic paraplegia 56//spastic paraplegia 56, autosomal recessive//spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum//spg56	CYP2U1	CYP2U1	https://raresource.nih.gov/literature/disease/0017480	0017480	615030	320411	C3539507		cytochrome P450 family 2 subfamily U member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 56"	8
Autosomal recessive spinocerebellar ataxia 13	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in grm1//autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in grm1//autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency//autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency//autosomal recessive spinocerebellar ataxia type 13//grm1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome//grm1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome//scar13//spinocerebellar ataxia, autosomal recessive type 13	GRM1	GRM1	https://raresource.nih.gov/literature/disease/0017481	0017481	614831	324262	C3553816		glutamate metabotropic receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 13"	4
Early-onset Lafora body disease	epilepsy, progressive myoclonic, 10//epilepsy, progressive myoclonic, type 10//epm10	PRDM8	PRDM8	https://raresource.nih.gov/literature/disease/0017482	0017482	616640	324290	C4225258		PR/SET domain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset Lafora body disease"	None
T-cell immunodeficiency with epidermodysplasia verruciformis	t-cell immunodeficiency due to ras homolog family member h deficiency//t-cell immunodeficiency due to rhoh (ras homolog family member h) deficiency//t-cell immunodeficiency due to rhoh deficiency	RHOH	RHOH	https://raresource.nih.gov/literature/disease/0017483	0017483	618307	324294	C4749500		ras homolog family member H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-cell immunodeficiency with epidermodysplasia verruciformis"	None
Sinoatrial node dysfunction and deafness	sandd//sinoatrial node dysfunction and hearing loss	CACNA1D	CACNA1D	https://raresource.nih.gov/literature/disease/0017484	0017484	614896	324321	C3554018		calcium voltage-gated channel subunit alpha1 D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sinoatrial node dysfunction and deafness"	2
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	intellectual developmental disorder, x-linked syndromic 32, x-linked recessive//intellectual disability, x-linked, syndromic 32//intellectual disability, x-linked, syndromic type 32//mental retardation, x-linked, syndromic 32//mental retardation, x-linked, syndromic type 32//mrxs32	CLIC2	CLIC2	https://raresource.nih.gov/literature/disease/0017485	0017485	300886	324410	C3550913		chloride intracellular channel 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	None
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	aplaid//aplaid - autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation//autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation//autoinflammation, antibody deficiency, and immune dysregulation//autoinflammation, antibody deficiency, and immune dysregulation syndrome//autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	PLCG2	PLCG2	https://raresource.nih.gov/literature/disease/0017486	0017486	614878	324530	C3553961		phospholipase C gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	18
Combined oxidative phosphorylation defect type 11	combined oxidative phosphorylation deficiency 11//combined oxidative phosphorylation deficiency caused by mutation in rmnd1//combined oxidative phosphorylation deficiency type 11//coxpd11//coxpd11 - combined oxidative phosphorylation defect type 11//encephaloneuromyopathy, infantile, due to mitochondrial translation defect//rmnd1 combined oxidative phosphorylation deficiency	RMND1	RMND1	https://raresource.nih.gov/literature/disease/0017487	0017487	614922	324535	C5190991		required for meiotic nuclear division 1 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 11"	3
Pontocerebellar hypoplasia type 8	chmp1a non-syndromic pontocerebellar hypoplasia//congenital pontocerebellar hypoplasia type 8//non-syndromic pontocerebellar hypoplasia caused by mutation in chmp1a//pch8//pch8 - pontocerebellar hypoplasia type 8//pontocerebellar hypoplasia due to chmp1a (charged multivesicular body protein 1a) mutation//pontocerebellar hypoplasia due to chmp1a mutation	CHMP1A	CHMP1A	https://raresource.nih.gov/literature/disease/0017488	0017488	614961	324569	C3554209		charged multivesicular body protein 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 8"	3
ABetaL34V amyloidosis	abeta amyloidosis, piedmont type//abetal34v-related amyloidosis//hchwa, piedmont type//hereditary cerebral haemorrhage with amyloidosis, piedmont type//hereditary cerebral hemorrhage with amyloidosis, piedmont type	APP	APP	https://raresource.nih.gov/literature/disease/0017489	0017489		324703	C5679882		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABetaL34V amyloidosis"	None
ABeta amyloidosis, Iowa type	abetad23n amyloidosis//cerebral amyloid angiopathy, app-related, iowa variant//hchwa, iowa type//hereditary cerebral haemorrhage with amyloidosis, iowa type//hereditary cerebral hemorrhage with amyloidosis, iowa type	APP	APP	https://raresource.nih.gov/literature/disease/0017490	0017490		324708	C3888309		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABeta amyloidosis, Iowa type"	None
ABeta amyloidosis, Italian type	abetae22k amyloidosis//cerebral amyloid angiopathy, app-related, italian variant//hchwa, italian type//hereditary cerebral haemorrhage with amyloidosis, italian type//hereditary cerebral hemorrhage with amyloidosis, italian type	APP	APP	https://raresource.nih.gov/literature/disease/0017491	0017491		324713	C3888308		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABeta amyloidosis, Italian type"	None
ABetaA21G amyloidosis	abeta amyloidosis, flemish type//abetaa21g-related amyloidosis//cerebral amyloid angiopathy, app-related, flemish variant//hchwa, flemish type//hereditary cerebral haemorrhage with amyloidosis, flemish type//hereditary cerebral hemorrhage with amyloidosis, flemish type	APP	APP	https://raresource.nih.gov/literature/disease/0017492	0017492		324718	C3888307		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABetaA21G amyloidosis"	None
ABeta amyloidosis, Arctic type	abetae22g amyloidosis//cerebral amyloid angiopathy, app-related, arctic variant//hchwa, arctic type//hereditary cerebral haemorrhage with amyloidosis, arctic type//hereditary cerebral hemorrhage with amyloidosis, arctic type	APP	APP	https://raresource.nih.gov/literature/disease/0017493	0017493		324723	C2751494		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABeta amyloidosis, Arctic type"	None
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis		RNF31;RBCK1	RNF31;RBCK1	https://raresource.nih.gov/literature/disease/0017494	0017494		329173	C5394674		ring finger protein 31; RANBP2-type and C3HC4-type zinc finger containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"	None
Tall stature-scoliosis-macrodactyly of the great toes syndrome	epiphyseal chondrodysplasia, miura type//tall stature-long halluces-multiple extra-epiphyses syndrome//tall stature-scoliosis-macrodactyly of the halluces syndrome	NPR2	NPR2	https://raresource.nih.gov/literature/disease/0017495	0017495	615923	329191	C4014690		natriuretic peptide receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tall stature-scoliosis-macrodactyly of the great toes syndrome"	3
Developmental delay with autism spectrum disorder and gait instability	developmental delay with asd and gait instability//intellectual developmental disorder, autosomal recessive 38//intellectual disability, autosomal recessive type 38//mental retardation, autosomal recessive type 38//mrt38	HERC2	HERC2	https://raresource.nih.gov/literature/disease/0017496	0017496	615516	329195	C3809753		HECT and RLD domain containing E3 ubiquitin protein ligase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay with autism spectrum disorder and gait instability"	None
Autosomal dominant neovascular inflammatory vitreoretinopathy	adniv//capn5 vitreoretinopathy//capn5-related vitreoretinopathy//retinitis proliferans//vitreoretinopathy, neovascular inflammatory//vitreoretinopathy, neovascular inflammatory, autosomal dominant//vrni	CAPN5	CAPN5	https://raresource.nih.gov/literature/disease/0017497	0017497	193235	329211	C4721549		calpain 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant neovascular inflammatory vitreoretinopathy"	65
Microcephalic primordial dwarfism due to ZNF335 deficiency	microcephalic primordial dwarfism, walsh type//primary autosomal recessive microcephaly 10	ZNF335	ZNF335	https://raresource.nih.gov/literature/disease/0017498	0017498	615095	329228	C3554499		zinc finger protein 335	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic primordial dwarfism due to ZNF335 deficiency"	None
X-linked central congenital hypothyroidism with late-onset testicular enlargement	central hypothyroidism and testicular enlargement//chte//hypothyroidism central and testicular enlargement//hypothyroidism, central, and testicular enlargement//hypothyroidism, central, and testicular enlargement, x-linked recessive//hypothyroidism, central, with testicular enlargement//igsf1 deficiency syndrome//immunoglobulin superfamily member 1 deficiency syndrome//x-linked central congenital hypothyroidism with late-onset macroorchidism	IGSF1	IGSF1	https://raresource.nih.gov/literature/disease/0017499	0017499	300888	329235	C3550963		immunoglobulin superfamily member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked central congenital hypothyroidism with late-onset testicular enlargement"	13
Congenital diarrhea 7 with exudative enteropathy	congenital chronic diarrhea with exudative enteropathy//congenital chronic diarrhea with protein-losing enteropathy//congenital chronic diarrhoea with exudative enteropathy//congenital chronic diarrhoea with protein-losing enteropathy//congenital diarrhea caused by mutation in dgat1//congenital diarrhoea caused by mutation in dgat1//dgat1 congenital diarrhea//dgat1 congenital diarrhoea//diarrhea 7//diarrhea 7, protein-losing enteropathy type//diarrhea type 7//diarrhoea 7, protein-losing enteropathy type//diarrhoea type 7	DGAT1	DGAT1	https://raresource.nih.gov/literature/disease/0017500	0017500	615863	329242	C4014516		diacylglycerol O-acyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital diarrhea 7 with exudative enteropathy"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency//adult-onset multiple mtdna deletion syndrome due to dguok deficiency//peob4//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive type 4//progressive external ophthalmoplegia, autosomal recessive 4	DGUOK	DGUOK	https://raresource.nih.gov/literature/disease/0017501	0017501	617070	329314	C4310733		deoxyguanosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"	None
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	adult-onset cpeo (chronic progressive external ophthalmoplegia) with mitochondrial myopathy//adult-onset cpeo with mitochondrial myopathy	RNASEH1;RRM2B	RNASEH1;RRM2B	https://raresource.nih.gov/literature/disease/0017503	0017503		329336	C4511138		ribonuclease H1; ribonucleotide reductase regulatory TP53 inducible subunit M2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"	None
Lipoprotein glomerulopathy	lpg	APOE	APOE	https://raresource.nih.gov/literature/disease/0017504	0017504	611771	329481	C2673196	C567089	apolipoprotein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipoprotein glomerulopathy"	178
Immunoglobulin-mediated membranoproliferative glomerulonephritis	ig-mediated membranoproliferative glomerulonephritis//ig-mediated mpgn//immune complex mediated membranoproliferative glomerulonephritis//immunoglobulin-mediated mpgn//membranoproliferative glomerulonephritis type i//mesangiocapillary glomerulonephritis type 1//nephrotic syndrome, type 7//nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis//nphs7	DGKE	DGKE	https://raresource.nih.gov/literature/disease/0017506	0017506	615008	329903	C3554330		diacylglycerol kinase epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunoglobulin-mediated membranoproliferative glomerulonephritis"	84
Generalized juvenile polyposis/juvenile polyposis coli	juvenile polyposis coli	SMAD4	SMAD4	https://raresource.nih.gov/literature/disease/0017508	0017508		329971	C1868081		SMAD family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized juvenile polyposis/juvenile polyposis coli"	47
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	dnm1l-associated encephalopathy due to peroxisomal and mitochondrial fission defect//dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect//lethal encephalopathy due to defective mitochondrial peroxisomal fission//lethal encephalopathy due to mitochondrial and peroxisomal fission defect	DNM1L	DNM1L	https://raresource.nih.gov/literature/disease/0017509	0017509	614388	330050	C3280660		dynamin 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	None
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency//dursun syndrome//g6pc3 deficiency//neutropenia, severe congenital 4, autosomal recessive//pulmonary arterial hypertension, leukopenia, and atrial septal defect//scn4//severe congenital neutropenia type 4//severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome//severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	G6PC3	https://raresource.nih.gov/literature/disease/0017511	0017511	612541	331176	C2751630		glucose-6-phosphatase catalytic subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"	51
Immunodeficiency due to MASP-2 deficiency	lectin complement activation pathway, defect in, 2//masp2 deficiency	MASP2	MASP2	https://raresource.nih.gov/literature/disease/0017512	0017512	613791	331187	C3151085	C565360	MBL associated serine protease 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency due to MASP-2 deficiency"	None
Immunodeficiency due to ficolin3 deficiency	fcn3 deficiency//ficolin 3 deficiency//lectin complement activation pathway, defect in, 3	FCN3	FCN3	https://raresource.nih.gov/literature/disease/0017513	0017513	613860	331190	C3151226		ficolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency due to ficolin3 deficiency"	7
Immunodeficiency 35	autosomal recessive hyper-ige (immunoglobulin e) syndrome due to tyk2 deficiency//autosomal recessive hyper-ige syndrome due to tyk2 deficiency//autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in tyk2//familial atypical mycobacteriosis, tyk2-related//hies with atypical mycobacteriosis, autosomal recessive//hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive//imd35//immunodeficiency type 35//susceptibility to infection due to tyk2 deficiency//susceptibility to infection due to tyrosine kinase 2 deficiency//tyk2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency//tyk2 deficiency//tyrosine kinase 2 deficiency	TYK2	TYK2	https://raresource.nih.gov/literature/disease/0017514	0017514	611521	331226	C1969086	C566928	tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 35"	28
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome//elovl4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis//elovl4-related neuro ichthyosis//ichthyosis, spastic quadriplegia, and impaired intellectual development//isqmr	ELOVL4	ELOVL4	https://raresource.nih.gov/literature/disease/0017515	0017515	614457	352333	C3280856		ELOVL fatty acid elongase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	2
Autosomal recessive spinocerebellar ataxia 14	ataxie spinocérébelleuse à début infantile avec retard psychomoteur//autosomal recessive cerebellar ataxia caused by mutation in sptbn2//autosomal recessive cerebellar ataxia, cognitive defect syndrome//autosomal recessive cerebellar ataxia-cognitive defect syndrome//autosomal recessive spinocerebellar ataxia type 14//cerebellar ataxia, autosomal recessive, spectrin-associated, 1//infantile-onset spinocerebellar ataxia-psychomotor delay syndrome//scar14//sparca//sparca1//spectrin-associated autosomal recessive cerebellar ataxia//spectrin-associated autosomal recessive cerebellar ataxia type 1//spinocerebellar ataxia, autosomal recessive type 14//sptbn2 autosomal recessive cerebellar ataxia	SPTBN2	SPTBN2	https://raresource.nih.gov/literature/disease/0017516	0017516	615386	352403	C4706415		spectrin beta, non-erythrocytic 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 14"	4
Mitochondrial DNA depletion syndrome 11	mgme1 mitochondrial dna depletion syndrome//mitochondrial dna depletion syndrome caused by mutation in mgme1//mitochondrial dna depletion syndrome type 11//mitochondrial dna maintenance syndrome due to mgme1 deficiency//mtdna maintenance syndrome due to mgme1 deficiency//mtdps11//peo-myopathy-emaciation syndrome//progressive external ophthalmoplegia-myopathy-emaciation syndrome	MGME1	MGME1	https://raresource.nih.gov/literature/disease/0017517	0017517	615084	352447	C3554462		mitochondrial genome maintenance exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 11"	1
Mitochondrial DNA deletion syndrome with progressive myopathy	dna2-related mitochondrial dna deletion syndrome//mitochondrial dna deletion syndrome with limb-girdle weakness//mtdna deletion syndrome with limb-girdle weakness//mtdna deletion syndrome with progressive myopathy//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6//progressive external ophthalmoplegia, autosomal dominant 6	DNA2	DNA2	https://raresource.nih.gov/literature/disease/0017518	0017518	615156	352470	C3554599		DNA replication helicase/nuclease 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA deletion syndrome with progressive myopathy"	None
Autosomal recessive limb-girdle muscular dystrophy type 2U	autosomal recessive limb girdle muscular dystrophy due to ispd deficiency//autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd//autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency//ispd autosomal recessive limb-girdle muscular dystrophy//ispd-related lgmd r20//ispd-related limb-girdle muscular dystrophy r20//lgmd type 2u//lgmd2u//lgmd2u - autosomal recessive limb girdle muscular dystrophy type 2u//limb-girdle muscular dystrophy type 2u//mddgc7//muscular dystrophy limb-girdle type 2u//muscular dystrophy, limb-girdle, type 2u//muscular dystrophy-dystroglycanopathy (limb-girdle) type c7//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	CRPPA	CRPPA	https://raresource.nih.gov/literature/disease/0017519	0017519	616052	352479	C5190987		CDP-L-ribitol pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2U"	1
Autism spectrum disorder due to AUTS2 deficiency	asd due to auts2 deficiency//autosomal dominant mental retardation 26//autosomal dominant non-syndromic intellectual disability 26//auts2 syndrome//intellectual developmental disorder, autosomal dominant 26//intellectual disability type 26//mental retardation, autosomal dominant 26//mental retardation, autosomal dominant type 26//mrd26	AUTS2	AUTS2	https://raresource.nih.gov/literature/disease/0017520	0017520	615834	352490	C4014435		activator of transcription and developmental regulator AUTS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autism spectrum disorder due to AUTS2 deficiency"	20
Familial infantile myoclonic epilepsy	epilepsy, myoclonic, infantile//familial infantile myoclonus epilepsy//fime//fime - familial infantile myoclonic epilepsy//myoclonic epilepsy, infantile, familial	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0017521	0017521	605021	352582	C0917800		TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial infantile myoclonic epilepsy"	9
Progressive myoclonic epilepsy with dystonia	pmed//progressive myoclonus epilepsy with dystonia	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0017522	0017522		352596	C4706413		TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy with dystonia"	7
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	spastic paraplegia 79, autosomal recessive//spastic paraplegia 79b, autosomal recessive	UCHL1	UCHL1	https://raresource.nih.gov/literature/disease/0017523	0017523	615491	352654	C3809665		ubiquitin C-terminal hydrolase L1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"	None
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	mspc//palmoplantar carcinoma, multiple self-healing//palmoplantar carcinoma, multiple self-healing; mspc	NLRP1	NLRP1	https://raresource.nih.gov/literature/disease/0017525	0017525	615225	352662	C3808876		NLR family pyrin domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	8
Cobblestone lissencephaly without muscular or ocular involvement	cobblestone lissencephaly without muscular or eye involvement//lissencephaly 5//lissencephaly type 2 without muscular or eye involvement//lissencephaly type 2 without muscular or ocular involvement//lissencephaly type 5	LAMB1	LAMB1	https://raresource.nih.gov/literature/disease/0017526	0017526	615191	352682	C3554657		laminin subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cobblestone lissencephaly without muscular or ocular involvement"	None
Neuronal ceroid lipofuscinosis 13	ceroid lipofuscinosis, neuronal, 13 (kufs type)//ceroid lipofuscinosis, neuronal, type 13//cln13//cln13 disease//ctsf neuronal ceroid lipofuscinosis//neuronal ceroid lipofuscinosis 13 kufs type//neuronal ceroid lipofuscinosis caused by mutation in ctsf//neuronal ceroid lipofuscinosis type 13	CTSF	CTSF	https://raresource.nih.gov/literature/disease/0017527	0017527	615362	352709	C3715049		cathepsin F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal ceroid lipofuscinosis 13"	4
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	facial dysmorphism, immunodeficiency, livedo, and short stature//fils syndrome	POLE	POLE	https://raresource.nih.gov/literature/disease/0017528	0017528	615139	352712	C3554576		DNA polymerase epsilon, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"	3
Progressive retinal dystrophy due to retinol transport defect	retinal dystrophy, iris coloboma, and comedogenic acne syndrome//retinol dystrophy-iris coloboma-comedogenic acne syndrome	RBP4	RBP4	https://raresource.nih.gov/literature/disease/0017529	0017529	615147	352718	C3554593		retinol binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive retinal dystrophy due to retinol transport defect"	None
Temperature-sensitive oculocutaneous albinism type 1	albinism, oculocutaneous, type i, temperature-sensitive//oca1-ts//ts oca type 1	TYR	TYR	https://raresource.nih.gov/literature/disease/0017530	0017530		352737	C1847132		tyrosinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Temperature-sensitive oculocutaneous albinism type 1"	None
Oculocutaneous albinism type 7	albinism, oculocutaneous, type vii//lrmda oculocutaneous albinism//oca7//oculocutaneous albinism caused by mutation in lrmda	LRMDA	LRMDA	https://raresource.nih.gov/literature/disease/0017531	0017531	615179	352745	C3808786		leucine rich melanocyte differentiation associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 7"	4
Developmental and epileptic encephalopathy, 39	agc1 deficiency//dee39//developmental and epileptic encephalopathy 39 with leukodystrophy//early infantile epileptic encephalopathy caused by mutation in slc25a12//eiee39//epileptic encephalopathy with global cerebral demyelination//epileptic encephalopathy, early infantile, 39//mitochondrial aspartate-glutamate carrier 1 deficiency//slc25a12 early infantile epileptic encephalopathy	SLC25A12	SLC25A12	https://raresource.nih.gov/literature/disease/0017532	0017532	612949	353217	C2751855	C567847	solute carrier family 25 member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 39"	15
Familial primary localized cutaneous amyloidosis	familial localized cutaneous amyloidosis//fplca//hereditary primary cutaneous amyloidosis	IL31RA;OSMR	IL31RA;OSMR	https://raresource.nih.gov/literature/disease/0017533	0017533		353220	C1304242	C562643	interleukin 31 receptor A; oncostatin M receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial primary localized cutaneous amyloidosis"	5
Rubinstein-Taybi syndrome due to CREBBP mutations	crebbp rubinstein-taybi syndrome//rsts1//rubinstein-taybi syndrome 1//rubinstein-taybi syndrome 1, incomplete//rubinstein-taybi syndrome caused by mutation in crebbp//rubinstein-taybi syndrome type 1	CREBBP	CREBBP	https://raresource.nih.gov/literature/disease/0017534	0017534	180849	353277	C4551859		CREB binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rubinstein-Taybi syndrome due to CREBBP mutations"	6
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	ep300 rubinstein-taybi syndrome//ep300-related rubinstein-taybi syndrome//rubinstein-taybi syndrome 2//rubinstein-taybi syndrome caused by mutation in ep300//rubinstein-taybi syndrome type 2	EP300	EP300	https://raresource.nih.gov/literature/disease/0017535	0017535	613684	353284	C3150941		E1A binding protein p300	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	5
Pyruvate carboxylase deficiency, infantile form	pyruvate carboxylase deficiency type a//pyruvate carboxylase deficiency, infantile type	PC	PC	https://raresource.nih.gov/literature/disease/0017536	0017536		353308	C5679928		pyruvate carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate carboxylase deficiency, infantile form"	1
Pyruvate carboxylase deficiency, severe neonatal type	pyruvate carboxylase deficiency type b	PC	PC	https://raresource.nih.gov/literature/disease/0017537	0017537		353314	C5679929		pyruvate carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate carboxylase deficiency, severe neonatal type"	2
Pyruvate carboxylase deficiency, benign type	pyruvate carboxylase deficiency type c	PC	PC	https://raresource.nih.gov/literature/disease/0017538	0017538		353320	C5679927		pyruvate carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate carboxylase deficiency, benign type"	3
D,L-2-hydroxyglutaric aciduria	combined d-2- and l-2-hydroxyglutaric aciduria//combined d-2-hydroxyglutaric acidemia and l-2-hydroxyglutaric acidemia//combined d-2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria//d,l-2-hga//d,l-2-hydroxyglutaric acidemia//d2l2ad	SLC25A1	SLC25A1	https://raresource.nih.gov/literature/disease/0017540	0017540	615182	356978	C5574940		solute carrier family 25 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D,L-2-hydroxyglutaric aciduria"	10
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	ank3-related intellectual disability-sleep disturbance syndrome//intellectual developmental disorder, autosomal recessive 37//intellectual disability, autosomal recessive type 37//mental retardation, autosomal recessive type 37//mental retardation, autosomal recessive, 37//mrt37	ANK3	ANK3	https://raresource.nih.gov/literature/disease/0017541	0017541	615493	356996	C3809672		ankyrin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-hypotonia-spasticity-sleep disorder syndrome"	None
Atypical hemolytic-uremic syndrome with DGKE deficiency	ahus with dgke deficiency//atypical hus with dgke deficiency//d-hus with dgke deficiency//hemolytic uremic syndrome with dgke deficiency//hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency//hemolytic-uremic syndrome without diarrhea with dgke deficiency//hemolytic-uremic syndrome without diarrhoea with dgke deficiency//hus with dgke deficiency	DGKE	DGKE	https://raresource.nih.gov/literature/disease/0017543	0017543		357008	C5679921		diacylglycerol kinase epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic-uremic syndrome with DGKE deficiency"	None
Hereditary retinoblastoma	familial retinoblastoma//rb1//rb1-related retinoblastoma predisposition//retinoblastoma, autosomal dominant, somatic mutation//retinoblastoma, trilateral, autosomal dominant, somatic mutation	RB1	RB1	https://raresource.nih.gov/literature/disease/0017544	0017544		357027	C0751483		RB transcriptional corepressor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary retinoblastoma"	340
Non-hereditary retinoblastoma		RB1	RB1	https://raresource.nih.gov/literature/disease/0017545	0017545		357034	C5680987		RB transcriptional corepressor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-hereditary retinoblastoma"	6
Autosomal recessive cutis laxa type 2, classic type	arcl2, classic type//arcl2, debre type//arcl2, debré type//autosomal recessive cutis laxa type 2, debre type//autosomal recessive cutis laxa type 2, debré type	ATP6V1A;ATP6V0A2;ATP6V1E1	ATP6V1A;ATP6V0A2;ATP6V1E1	https://raresource.nih.gov/literature/disease/0017546	0017546		357074	C5679922	C562632	ATPase H+ transporting V1 subunit A; ATPase H+ transporting V0 subunit a2; ATPase H+ transporting V1 subunit E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cutis laxa type 2, classic type"	None
Severe combined immunodeficiency due to CARD11 deficiency	imd11a//immunodeficiency 11//immunodeficiency 11a//immunodeficiency type 11//scid due to card11 deficiency	CARD11	CARD11	https://raresource.nih.gov/literature/disease/0017549	0017549	615206	357237	C3554686		caspase recruitment domain family member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to CARD11 deficiency"	None
Cryptosporidiosis-chronic cholangitis-liver disease syndrome	combined immunodeficiency due to il21r deficiency//il21r immunodeficiency//immunodeficiency type 56	IL21R	IL21R	https://raresource.nih.gov/literature/disease/0017550	0017550	615207	357329	C3554687		interleukin 21 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cryptosporidiosis-chronic cholangitis-liver disease syndrome"	None
Severe neurodegenerative syndrome with lipodystrophy	encephalopathy, progressive, with lipodystrophy//severe neurodegenerative syndrome due to bscl2 deficiency	BSCL2	BSCL2	https://raresource.nih.gov/literature/disease/0017552	0017552	615924	363400	C4014700		BSCL2 lipid droplet biogenesis associated, seipin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe neurodegenerative syndrome with lipodystrophy"	None
Fetal akinesia-cerebral and retinal hemorrhage syndrome	lccs5//lethal congenital contracture syndrome 5//lethal congenital contracture syndrome type 5//myopathy, centronuclear, lethal, autosomal recessive	DNM2	DNM2	https://raresource.nih.gov/literature/disease/0017553	0017553	615368	363409	C4706410		dynamin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal akinesia-cerebral and retinal hemorrhage syndrome"	1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity	aspartyl-trna synthetase deficiency//hbsl//hbsl - hypomyelination, brain stem, spinal cord, leg spasticity	DARS1	DARS1	https://raresource.nih.gov/literature/disease/0017554	0017554	615281	363412	C4755254		aspartyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelination with brain stem and spinal cord involvement and leg spasticity"	10
Multiple mitochondrial dysfunctions syndrome 3	fatal multiple mitochondrial dysfunctions syndrome caused by mutation in iba57//iba57 (iron-sulfur cluster assembly factor iba57) deficiency//iba57 deficiency//iba57 fatal multiple mitochondrial dysfunctions syndrome//mmds3//mmds3 - multiple mitochondrial dysfunctions syndrome type 3//multiple mitochondrial dysfunctions syndrome type 3	IBA57	IBA57	https://raresource.nih.gov/literature/disease/0017555	0017555	615330	363424	C3809165		iron-sulfur cluster assembly factor IBA57	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 3"	6
Autosomal recessive spinocerebellar ataxia 18	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in grid2//autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in grid2//autosomal recessive congenital cerebellar ataxia due to grid2 deficiency//autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency//autosomal recessive spinocerebellar ataxia type 18//grid2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome//grid2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome//scar18//spinocerebellar ataxia, autosomal recessive type 18	GRID2	GRID2	https://raresource.nih.gov/literature/disease/0017557	0017557	616204	363432	C4015505		glutamate ionotropic receptor delta type subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 18"	4
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	bbis//bbis - beaulieu boycott innes syndrome//beaulieu boycott innes syndrome//beaulieu-boycott-innes syndrome//microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations//tho complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome	THOC6	THOC6	https://raresource.nih.gov/literature/disease/0017558	0017558	613680	363444	C3150939		THO complex subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	13
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	shaheen syndrome	COG6	COG6	https://raresource.nih.gov/literature/disease/0017562	0017562	615328	363523	C3809160		component of oligomeric golgi complex 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"	1
Intellectual disability-strabismus syndrome	intellectual disability with strabismus syndrome//intellectual disability, autosomal recessive type 36//mental retardation, autosomal recessive type 36//nedbgf//neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	ADAT3	ADAT3	https://raresource.nih.gov/literature/disease/0017563	0017563	615286	363528	C4750838		adenosine deaminase tRNA specific 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-strabismus syndrome"	None
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form//mtdna depletion syndrome, hepatocerebrorenal form	TWNK	TWNK	https://raresource.nih.gov/literature/disease/0017564	0017564		363534	C5190602		twinkle mtDNA helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"	None
Leukoencephalopathy with mild cerebellar ataxia and white matter edema	brain white matter edema//clcn2 (chloride voltage-gated channel 2) related leukoencephalopathy//clcn2-related leukoencephalopathy//leukoencephalopathy with ataxia//leukoencephalopathy with white matter edema//lkpat	CLCN2	CLCN2	https://raresource.nih.gov/literature/disease/0017565	0017565	615651	363540	C4554120		chloride voltage-gated channel 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with mild cerebellar ataxia and white matter edema"	19
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	autosomal dominant intellectual disability 21//autosomal dominant mental retardation 21//ctcf-related neurodevelopmental disorder//intellectual developmental disorder, autosomal dominant 21//intellectual disability, autosomal dominant type 21//mental retardation, autosomal dominant type 21//mrd21	CTCF	CTCF	https://raresource.nih.gov/literature/disease/0017566	0017566	615502	363611	C3809686		CCCTC-binding factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"	2
X-linked parkinsonism-spasticity syndrome	parkinsonism with spasticity, x-linked//parkinsonism with spasticity, x-linked, x-linked recessive//x-linked parkinsonism with spasticity syndrome//xpds//xpds - x-linked parkinsonism with spasticity syndrome	ATP6AP2	ATP6AP2	https://raresource.nih.gov/literature/disease/0017567	0017567	300911	363654	C3806722		ATPase H+ transporting accessory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked parkinsonism-spasticity syndrome"	5
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia		MYH2	MYH2	https://raresource.nih.gov/literature/disease/0017568	0017568		363677	C5192594		myosin heavy chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"	None
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	hupra syndrome//hupras//hyperuricemia, pulmonary hypertension, renal failure, and alkalosis//hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	SARS2	SARS2	https://raresource.nih.gov/literature/disease/0017569	0017569	613845	363694	C3151209		seryl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome"	8
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	von recklinghausen disease due to nf1 mutation or intragenic deletion	NF1	NF1	https://raresource.nih.gov/literature/disease/0017570	0017570		363700	C5779636		neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"	None
Alexander disease type I	alexander disease infantile form//alexander's disease infantile form//axd (alexander disease) type i//axd type i//infantile alexander disease//infantile alexander's disease	GFAP	GFAP	https://raresource.nih.gov/literature/disease/0017572	0017572		363717	C5769581		glial fibrillary acidic protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alexander disease type I"	26
Alexander disease type II	axd (alexander disease) type ii//axd type ii	GFAP	GFAP	https://raresource.nih.gov/literature/disease/0017573	0017573		363722	C5679914		glial fibrillary acidic protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alexander disease type II"	1
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	anemia, x-linked, with or without neutropenia and/or platelet abnormalities//anemia, x-linked, with/without neutropenia and/or platelet abnormalities, x-linked recessive//x-linked dyserythropoietic anemia with abnormal platelets and neutropenia	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0017574	0017574	300835	363727	C3550856		GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked dyserythropoetic anemia with abnormal platelets and neutropenia"	None
CBL-related disorder	cbl mutation-associated syndrome//cbl syndrome//noonan syndrome-like disorder with jmml//noonan syndrome-like disorder with juvenile myelomonocytic leukaemia//noonan syndrome-like disorder with juvenile myelomonocytic leukemia//noonan syndrome-like disorder without juvenile myelomonocytic leukemia//noonan-like syndrome	CBL	CBL	https://raresource.nih.gov/literature/disease/0017577	0017577	613563	363972	C3150803		Cbl proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CBL-related disorder"	80
Charcot-Marie-Tooth disease type 4B3	charcot-marie-tooth disease type 4 caused by mutation in sbf1//charcot-marie-tooth disease with focally folded myelin//charcot-marie-tooth disease, demyelinating, type 4b3//charcot-marie-tooth neuropathy type 4b3//charcot-marie-tooth neuropathy type 4b3 (cmt4b3)//cmt4b3//sbf1 charcot-marie-tooth disease type 4	SBF1	SBF1	https://raresource.nih.gov/literature/disease/0017578	0017578	615284	363981	C3695063		SET binding factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4B3"	8
Weill-Marchesani 4 syndrome, recessive	15q26.3 microdeletion syndrome//ichthyosis-short stature-brachydactyly-microspherophakia syndrome//weill-marchesani syndrome 4//weill-marchesani-like syndrome//wms4	ADAMTS17	ADAMTS17	https://raresource.nih.gov/literature/disease/0017579	0017579	613195	363992	C2750787	C567710	ADAM metallopeptidase with thrombospondin type 1 motif 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weill-Marchesani 4 syndrome, recessive"	12
Non-immune hydrops fetalis	familial non-immune hydrops fetalis//fetal edema//hydrops fetalis not due to isoimmunization//hydrops fetalis, non-immune//hydrops fetalis, nonimmune//idiopathic hydrops fetalis//idiopathic hydrops foetalis//nihf//non-immune fetal edema//non-immune fetal hydrops//non-immune foetal hydrops//non-immune foetal oedema//non-immune hf//nonimmune hydrops	CALCRL;ANGPT2;THSD1	CALCRL;ANGPT2;THSD1	https://raresource.nih.gov/literature/disease/0017580	0017580	236750	363999	C0455988		calcitonin receptor like receptor; angiopoietin 2; thrombospondin type 1 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-immune hydrops fetalis"	701
Infantile epileptic dyskinetic encephalopathy		ARX	ARX	https://raresource.nih.gov/literature/disease/0017582	0017582		364063	C4552072	C567924	aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile epileptic dyskinetic encephalopathy"	1
Multiple congenital anomalies-hypotonia-seizures syndrome 3	congenital disorder of glycosylation due to pigt deficiency//glycosylphosphatidylinositol biosynthesis defect 7//intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome//lfss//light fixation seizure syndrome//mcahs type 3//mcahs3//multiple congenital anomalies-hypotonia-seizures syndrome type 3//multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in pigt//pigt multiple congenital anomalies/dysmorphic syndrome-intellectual disability//pigt-cdg	PIGT	PIGT	https://raresource.nih.gov/literature/disease/0017584	0017584	615398	369837	C3809356	C566367	phosphatidylinositol glycan anchor biosynthesis class T	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple congenital anomalies-hypotonia-seizures syndrome 3"	22
Congenital neutropenia-myelofibrosis-nephromegaly syndrome	congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome//severe congenital neutropenia 5, autosomal recessive//vps45 deficiency	VPS45	VPS45	https://raresource.nih.gov/literature/disease/0017585	0017585	615285	369852	C3809031		vacuolar protein sorting 45 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital neutropenia-myelofibrosis-nephromegaly syndrome"	7
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay//sifd//sifd syndrome	TRNT1	TRNT1	https://raresource.nih.gov/literature/disease/0017586	0017586	616084	369861	C4015172		tRNA nucleotidyl transferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	28
Charcot-Marie-Tooth disease recessive intermediate C	autosomal recessive intermediate charcot-marie-tooth disease type c//charcot-marie-tooth disease caused by mutation in plekhg5//charcot-marie-tooth disease recessive intermediate type c//charcot-marie-tooth disease, recessive intermediate type c//charcot-marie-tooth neuropathy, recessive intermediate c//cmtric//plekhg5 charcot-marie-tooth disease//ri-cmt type c//ri-cmtc	PLEKHG5	PLEKHG5	https://raresource.nih.gov/literature/disease/0017587	0017587	615376	369867	C3809309		pleckstrin homology and RhoGEF domain containing G5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease recessive intermediate C"	None
Cardiac anomalies - developmental delay - facial dysmorphism syndrome	asadollahi-rauch syndrome//asras//developmental delay-facial dysmorphism syndrome due to med13l deficiency//impaired intellectual development and distinctive facial features with or without cardiac defects//intellectual disability and distinctive facial features with or without cardiac defects//med13l haploinsufficiency syndrome//med13l syndrome//med13l-related intellectual disability//med13l-related intellectual disability syndrome//mental retardation and distinctive facial features with or without cardiac defects//mrfacd	MED13L	MED13L	https://raresource.nih.gov/literature/disease/0017588	0017588	616789	369891	C4225208		mediator complex subunit 13L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac anomalies - developmental delay - facial dysmorphism syndrome"	22
Combined oxidative phosphorylation defect type 17	combined oxidative phosphorylation deficiency 17//combined oxidative phosphorylation deficiency caused by mutation in elac2//combined oxidative phosphorylation deficiency type 17//coxpd17//coxpd17 - combined oxidative phosphorylation defect type 17//elac2 combined oxidative phosphorylation deficiency	ELAC2	ELAC2	https://raresource.nih.gov/literature/disease/0017589	0017589	615440	369913	C3809526		elaC ribonuclease Z 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 17"	1
Pontocerebellar hypoplasia type 9	ampd2 non-syndromic pontocerebellar hypoplasia//non-syndromic pontocerebellar hypoplasia caused by mutation in ampd2//pch9	AMPD2	AMPD2	https://raresource.nih.gov/literature/disease/0017590	0017590	615809	369920	C4014354		adenosine monophosphate deaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 9"	9
Aldosterone-producing adenoma with seizures and neurological abnormalities	aldosterone-secreting adenoma with seizures and neurological abnormalities//apa with seizures and neurological abnormalities//complex neurodevelopmental disorder with or without aldosteronism//conn adenoma with seizures and neurological abnormalities//primary aldosteronism, seizures, and neurologic abnormalities//primary hyperaldosteronism-seizures-neurological abnormalities syndrome	CACNA1D	CACNA1D	https://raresource.nih.gov/literature/disease/0017591	0017591	615474	369929	C3809609		calcium voltage-gated channel subunit alpha1 D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aldosterone-producing adenoma with seizures and neurological abnormalities"	None
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	cadds - contiguous abcd1 dxs1357e deletion syndrome//chromosome xq28 deletion syndrome//contiguous abcd1 dxs1357e deletion syndrome//deafness, dystonia, and cerebral hypomyelination, x-linked recessive//severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome//zellweger-like contiguous gene deletion syndrome	BCAP31	BCAP31	https://raresource.nih.gov/literature/disease/0017592	0017592	300475	369939	C3806634	C564508	B cell receptor associated protein 31	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	2
Microcornea-myopic chorioretinal atrophy	microcornea, myopic chorioretinal atrophy, and telecanthus//microcornea-myopic chorioretinal atrophy-telecanthus syndrome//mmcat syndrome	ADAMTS18	ADAMTS18	https://raresource.nih.gov/literature/disease/0017593	0017593	615458	369970	C3809567		ADAM metallopeptidase with thrombospondin type 1 motif 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcornea-myopic chorioretinal atrophy"	None
Severe dermatitis-multiple allergies-metabolic wasting syndrome	congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome//congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome//erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige//erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige//erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, recurrent infections, and multiple food allergies//sam syndrome//severe dermatitis, multiple allergies, and metabolic wasting syndrome	DSG1	DSG1	https://raresource.nih.gov/literature/disease/0017594	0017594	615508	369992	C3809719		desmoglein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe dermatitis-multiple allergies-metabolic wasting syndrome"	23
Diffuse palmoplantar keratoderma with painful fissures		DSG1	DSG1	https://raresource.nih.gov/literature/disease/0017595	0017595		369999	C4755309		desmoglein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diffuse palmoplantar keratoderma with painful fissures"	None
Focal palmoplantar keratoderma with joint keratoses		DSG1	DSG1	https://raresource.nih.gov/literature/disease/0017596	0017596		370002	C4755302		desmoglein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal palmoplantar keratoderma with joint keratoses"	None
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome//poretti boltshauser syndrome//poretti-boltshauser syndrome	LAMA1	LAMA1	https://raresource.nih.gov/literature/disease/0017597	0017597	615960	370022	C4014821		laminin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"	28
Oculocutaneous albinism type 6	albinism, oculocutaneous, type vi//oca6	SLC24A5	SLC24A5	https://raresource.nih.gov/literature/disease/0017599	0017599	113750	370097	C3805375		solute carrier family 24 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 6"	7
STT3A-congenital disorder of glycosylation	cdg syndrome type iw//cdg-iw//cdg1w//congenital disorder of glycosylation type 1w//congenital disorder of glycosylation type iw//congenital disorder of glycosylation, type iw, autosomal recessive//stt3a-cdg	STT3A	STT3A	https://raresource.nih.gov/literature/disease/0017602	0017602	615596	370921	C5561935		STT3 oligosaccharyltransferase complex catalytic subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=STT3A-congenital disorder of glycosylation"	2
STT3B-congenital disorder of glycosylation	carbohydrate deficient glycoprotein syndrome type ix//cdg ix//cdg syndrome type ix//cdg-ix//cdg1x//congenital disorder of glycosylation type 1x//congenital disorder of glycosylation type ix//stt3b-cdg//stt3b-cdg (congenital disorder of glycosylation)	STT3B	STT3B	https://raresource.nih.gov/literature/disease/0017603	0017603	615597	370924	C2931007	C535751	STT3 oligosaccharyltransferase complex catalytic subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=STT3B-congenital disorder of glycosylation"	12
Autism spectrum disorder - epilepsy - arthrogryposis syndrome	amrs//arthrogryposis, impaired intellectual development, and seizures//slc35a3-cdg	SLC35A3	SLC35A3	https://raresource.nih.gov/literature/disease/0017604	0017604	615553	370943	C3809910		solute carrier family 35 member A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autism spectrum disorder - epilepsy - arthrogryposis syndrome"	3
Congenital muscular dystrophy with intellectual disability	cmd with intellectual disability//cmd-mr	POMT1;GMPPB;POMT2;LARGE1;FKRP	POMT1;GMPPB;POMT2;LARGE1;FKRP	https://raresource.nih.gov/literature/disease/0017606	0017606		370968	C5190846		protein O-mannosyltransferase 1; GDP-mannose pyrophosphorylase B; protein O-mannosyltransferase 2; LARGE xylosyl- and glucuronyltransferase 1; fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy with intellectual disability"	1
Muscle-eye-brain disease with bilateral multicystic leucodystrophy	meb disease with bilateral multicystic leucodystrophy//muscle eye brain disease with bilateral multicystic leukodystrophy	DAG1	DAG1	https://raresource.nih.gov/literature/disease/0017608	0017608		370997	C5191414		dystroglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscle-eye-brain disease with bilateral multicystic leucodystrophy"	None
Multicentric osteolysis nodulosis arthropathy spectrum	mona (multicentric osteolysis nodulosis arthropathy) spectrum//mona spectrum//nao syndrome//nodulosis-arthropathy-osteolysis syndrome//torg-winchester syndrome	MMP14;MMP2	MMP14;MMP2	https://raresource.nih.gov/literature/disease/0017610	0017610		371428	C1850155		matrix metallopeptidase 14; matrix metallopeptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multicentric osteolysis nodulosis arthropathy spectrum"	10
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	intellectual developmental disorder, autosomal recessive 39//intellectual disability, autosomal recessive type 39//mental retardation, autosomal recessive type 39//mrt39	TTI2	TTI2	https://raresource.nih.gov/literature/disease/0017611	0017611	615541	391307	C3809853		TELO2 interacting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"	None
Immunodeficiency 31B	immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive//immunodeficiency type 31b//predisposition to severe viral infection due to stat1 deficiency//stat1 deficiency//stat1 deficiency, autosomal recessive//susceptibility to viral and mycobacterial infections due to stat1 deficiency	STAT1	STAT1	https://raresource.nih.gov/literature/disease/0017612	0017612	613796	391311	C3151088		signal transducer and activator of transcription 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 31B"	53
East Texas bleeding disorder		F5	F5	https://raresource.nih.gov/literature/disease/0017613	0017613	605913	391320	C1853831	C565275	coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=East Texas bleeding disorder"	5
X-linked osteoporosis with fractures		PLS3	PLS3	https://raresource.nih.gov/literature/disease/0017614	0017614		391330	C5190610		plastin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked osteoporosis with fractures"	None
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	combined oxidative phosphorylation deficiency 18//combined oxidative phosphorylation deficiency caused by mutation in sfxn4//combined oxidative phosphorylation deficiency type 18//sfxn4 combined oxidative phosphorylation deficiency	SFXN4	SFXN4	https://raresource.nih.gov/literature/disease/0017615	0017615	615578	391348	C3810001		sideroflexin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"	None
Charcot-Marie-Tooth disease type 4K	autosomal recessive demyelinating charcot-marie-tooth disease type 4k//autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k//charcot-marie-tooth disease type 4 caused by mutation in surf1//charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k//charcot-marie-tooth disease, demyelinating, type 4k//charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k//cmt4k//surf1 charcot-marie-tooth disease type 4//surf1, cytochrome c oxidase assembly factor related charcot-marie-tooth disease type 4//surf1-related charcot-marie-tooth disease type 4//surf1-related cmt4//surf1-related severe demyelinating charcot-marie-tooth disease	SURF1	SURF1	https://raresource.nih.gov/literature/disease/0017616	0017616	616684	391351	C4225246		SURF1 cytochrome c oxidase assembly factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4K"	None
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	asns deficiency//asparagine synthetase deficiency	ASNS	ASNS	https://raresource.nih.gov/literature/disease/0017617	0017617	615574	391376	C3809971		asparagine synthetase (glutamine-hydrolyzing)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	48
Familial episodic pain syndrome with predominantly upper body involvement	episodic pain syndrome, familial, type 1//familial episodic pain syndrome 1	TRPA1	TRPA1	https://raresource.nih.gov/literature/disease/0017618	0017618	615040	391389	C3808667		transient receptor potential cation channel subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial episodic pain syndrome with predominantly upper body involvement"	None
Familial episodic pain syndrome with predominantly lower limb involvement	episodic pain syndrome, familial, 3//episodic pain syndrome, familial, type 3	SCN11A	SCN11A	https://raresource.nih.gov/literature/disease/0017619	0017619	615552	391392	C3809899		sodium voltage-gated channel alpha subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial episodic pain syndrome with predominantly lower limb involvement"	None
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		PPP1R15B;TRMT10A	PPP1R15B;TRMT10A	https://raresource.nih.gov/literature/disease/0017620	0017620		391408	C5190597		protein phosphatase 1 regulatory subunit 15B; tRNA methyltransferase 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"	None
Atypical juvenile parkinsonism		SYNJ1;DNAJC6;PODXL	SYNJ1;DNAJC6;PODXL	https://raresource.nih.gov/literature/disease/0017621	0017621		391411	C4510873		synaptojanin 1; DnaJ heat shock protein family (Hsp40) member C6; podocalyxin like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical juvenile parkinsonism"	4
HSD10 disease, infantile type	2-methyl-3-hydroxybutyric aciduria, classic type//2-methyl-3-hydroxybutyric aciduria, infantile type//2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, classic type//2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, infantile type//hsd10 deficiency, classic type//hsd10 deficiency, infantile type//hsd10 disease, classic type//mhbd deficiency, classic type//mhbd deficiency, infantile type	HSD17B10	HSD17B10	https://raresource.nih.gov/literature/disease/0017622	0017622		391428	C5680025		hydroxysteroid 17-beta dehydrogenase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HSD10 disease, infantile type"	None
HSD10 disease, neonatal type	2-methyl-3-hydroxybutyric aciduria, neonatal type//2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, neonatal type//hsd10 deficiency, neonatal type//mhbd deficiency, neonatal type	HSD17B10	HSD17B10	https://raresource.nih.gov/literature/disease/0017623	0017623		391457	C5680026		hydroxysteroid 17-beta dehydrogenase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HSD10 disease, neonatal type"	None
Feingold syndrome type 1	brunner-winter syndrome type 1//digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1//digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1//feingold syndrome caused by mutation in mycn//fglds1//fs1//microcephaly and digital abnormalities with normal intelligence//microcephaly, mental retardation, and tracheoesophageal fistula syndrome//microcephaly-digital anomalies-normal intelligence syndrome type 1//microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1//microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1//mmt type 1//moded syndrome type 1//mycn feingold syndrome//oculo-digito-esophageal-duodenal syndrome type 1//oculodigitoesophagoduodenal syndrome//oded syndrome type 1	MYCN	MYCN	https://raresource.nih.gov/literature/disease/0017624	0017624	164280	391641	C4551774		MYCN proto-oncogene, bHLH transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Feingold syndrome type 1"	11
Feingold syndrome type 2	brachydactyly with short stature and microcephaly//brachydactyly-short stature-microcephaly syndrome//brunner-winter syndrome type 2//fglds2//fs2//microcephaly-digital anomalies-normal intelligence syndrome type 2//microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2//mmt type 2	MIR17HG	MIR17HG	https://raresource.nih.gov/literature/disease/0017625	0017625	614326	391646	C3280489		miR-17-92a-1 cluster host gene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Feingold syndrome type 2"	6
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	glutaric aciduria type 2, severe neonatal type//mad deficiency, severe neonatal type//madd, severe neonatal type	ETFA;ETFB;FLAD1;ETFDH	ETFA;ETFB;FLAD1;ETFDH	https://raresource.nih.gov/literature/disease/0017626	0017626		394529	C5680029		electron transfer flavoprotein subunit alpha; electron transfer flavoprotein subunit beta; flavin adenine dinucleotide synthetase 1; electron transfer flavoprotein dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"	None
Multiple acyl-CoA dehydrogenase deficiency, mild type	glutaric aciduria type 2, mild type//mad deficiency, mild type//madd, mild type	ETFB;FLAD1;ETFDH;ETFA;SLC25A32	ETFB;FLAD1;ETFDH;ETFA;SLC25A32	https://raresource.nih.gov/literature/disease/0017627	0017627		394532	C5680028		electron transfer flavoprotein subunit beta; flavin adenine dinucleotide synthetase 1; electron transfer flavoprotein dehydrogenase; electron transfer flavoprotein subunit alpha; solute carrier family 25 member 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple acyl-CoA dehydrogenase deficiency, mild type"	None
Macrocephaly-developmental delay syndrome	intellectual developmental disorder, autosomal recessive 41//intellectual disability, autosomal recessive type 41//mental retardation, autosomal recessive type 41//mrt41	KPTN	KPTN	https://raresource.nih.gov/literature/disease/0017630	0017630	615637	397612	C3810225		kaptin, actin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrocephaly-developmental delay syndrome"	None
Obesity due to CEP19 deficiency	morbid obesity and spermatogenic failure	CEP19	CEP19	https://raresource.nih.gov/literature/disease/0017631	0017631	615703	397615	C3810324		centrosomal protein 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to CEP19 deficiency"	None
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	fhonda syndrome//foveal hypoplasia 2//foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism//foveal hypoplasia 2 with or without microphthalmia or coloboma//foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis//foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis//foveal hypoplasia type 2	SLC38A8	SLC38A8	https://raresource.nih.gov/literature/disease/0017632	0017632	609218	397618	C3807873	C563774	solute carrier family 38 member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	8
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	sams syndrome//short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities//short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities	GSC	GSC	https://raresource.nih.gov/literature/disease/0017633	0017633	602471	397623	C1865361	C566544	goosecoid homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"	2
Familial hyperprolactinemia	familial isolated prolactin receptor deficiency//hereditary hyperprolactinemia (disease)//hprl	PRLR	PRLR	https://raresource.nih.gov/literature/disease/0017634	0017634	615555	397685	C4706551		prolactin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperprolactinemia"	94
Autosomal recessive spinocerebellar ataxia 20	autosomal recessive cerebellar ataxia caused by mutation in snx14//autosomal recessive spinocerebellar ataxia type 20//intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome//intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome//intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome//scar20//scar20 - autosomal recessive spinocerebellar ataxia type 20//snx14 autosomal recessive cerebellar ataxia//spinocerebellar ataxia, autosomal recessive type 20	SNX14	SNX14	https://raresource.nih.gov/literature/disease/0017636	0017636	616354	397709	C5190595		sorting nexin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 20"	10
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	jbts with jatd//joubert syndrome with jatd//joubert syndrome with jatd (jeune asphyxiating thoracic dystrophy)	CSPP1;KIAA0586	CSPP1;KIAA0586	https://raresource.nih.gov/literature/disease/0017637	0017637		397715	C4518774		centrosome and spindle pole associated protein 1; KIAA0586	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with Jeune asphyxiating thoracic dystrophy"	None
Charcot-Marie-Tooth disease axonal type 2U	autosomal dominant axonal charcot-marie-tooth disease type 2u//autosomal dominant charcot-marie-tooth disease type 2 due to mars (methionyl-trna synthetase) mutation//autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation//autosomal dominant charcot-marie-tooth disease type 2u//charcot-marie-tooth disease type 2 caused by mutation in mars//charcot-marie-tooth disease, axonal, autosomal dominant, type 2u//charcot-marie-tooth neuropathy type 2u//charcot-marie-tooth neuropathy, type 2u//cmt2u//mars charcot-marie-tooth disease type 2	MARS1	MARS1	https://raresource.nih.gov/literature/disease/0017638	0017638	616280	397735	C4084821		methionyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2U"	3
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	peripheral neuropathy-myopathy-hoarseness-deafness syndrome//pnmhh	MYH14	MYH14	https://raresource.nih.gov/literature/disease/0017639	0017639	614369	397744	C3280556		myosin heavy chain 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"	1
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	retinal dystrophy with inner nuclear layer and ganglion cell anomalies//retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	ITM2B	ITM2B	https://raresource.nih.gov/literature/disease/0017640	0017640	616079	397758	C4015146		integral membrane protein 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"	None
Severe combined immunodeficiency due to IKK2 deficiency	immunodeficiency 15//immunodeficiency 15b//immunodeficiency type 15//scid due to ikk2 deficiency	IKBKB	IKBKB	https://raresource.nih.gov/literature/disease/0017641	0017641	615592	397787	C4747743		inhibitor of nuclear factor kappa B kinase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to IKK2 deficiency"	None
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	sacral agenesis with vertebral anomalies	TBXT	TBXT	https://raresource.nih.gov/literature/disease/0017642	0017642	615709	397927	C3810343		T-box transcription factor T	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"	None
Polyglucosan body myopathy type 1	pgbm1//pgbm1 - polyglucosan body myopathy type 1//polyglucosan body myopathy 1 with or without immunodeficiency//polyglucosan body myopathy without immunodeficiency//polyglucosan body myopathy, early-onset, with or without immunodeficiency	RBCK1	RBCK1	https://raresource.nih.gov/literature/disease/0017643	0017643	615895	397937	C4014605		RANBP2-type and C3HC4-type zinc finger containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyglucosan body myopathy type 1"	8
Spastic ataxia 2	ataxia, spastic, 2, autosomal recessive//autosomal recessive spastic ataxia type 2//autosomal spastic ataxia type 2//autosomal spastic paraplegia type 58//kif1c spastic ataxia//spastic ataxia caused by mutation in kif1c//spastic ataxia type 2//spax2//spg58	KIF1C	KIF1C	https://raresource.nih.gov/literature/disease/0017644	0017644	611302	397946	C1969796	C566969	kinesin family member 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 2"	4
Microcephaly-thin corpus callosum-intellectual disability syndrome	intellectual developmental disorder, autosomal recessive 40//intellectual disability, autosomal recessive type 40//mental retardation, autosomal recessive type 40//nedfcf//neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity	TAF2	TAF2	https://raresource.nih.gov/literature/disease/0017645	0017645	615599	397951	C3810080		TATA-box binding protein associated factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-thin corpus callosum-intellectual disability syndrome"	1
TCR-alpha-beta-positive T-cell deficiency	imd7//immunodeficiency 7//immunodeficiency 7, tcr-alpha/beta deficient//t-cell receptor alpha/beta deficiency//tcr-alpha-beta+ t-cell deficiency//tcr-alpha/beta deficiency	TRAC	TRAC	https://raresource.nih.gov/literature/disease/0017646	0017646	615387	397959	C3809332		T cell receptor alpha constant	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TCR-alpha-beta-positive T-cell deficiency"	None
Combined immunodeficiency due to MALT1 deficiency	immunodeficiency 12//immunodeficiency type 12	MALT1	MALT1	https://raresource.nih.gov/literature/disease/0017647	0017647	615468	397964	C3809583		MALT1 paracaspase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to MALT1 deficiency"	2
Focal facial dermal dysplasia type IV	ffdd type 4 - focal facial dermal dysplasia type 4//ffdd type iv//ffdd4//focal facial dermal dysplasia 4//focal facial dermal dysplasia type 4//focal facial preauricular dysplasia	CYP26C1	CYP26C1	https://raresource.nih.gov/literature/disease/0017650	0017650	614974	398189	C3554246		cytochrome P450 family 26 subfamily C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal facial dermal dysplasia type IV"	5
Myofibrillar myopathy 2	alpha-b crystallin-related late-onset distal myopathy//alpha-b crystallin-related late-onset myopathy//alpha-b crystallinopathy//autosomal dominant distal myopathy caused by mutation in cryab//cryab autosomal dominant distal myopathy//late-onset distal crystallinopathy//myofibrillar myopathy type 2//myopathy, desmin-related, associated with mutation in the cryab gene//myopathy, myofibrillar, 2a, adult-onset//myopathy, myofibrillar, alpha-b crystallin-related//myopathy, myofibrillar, type 2//myopathy, myofibrillar, with or without cataract and/or cardiomyopathy	CRYAB	CRYAB	https://raresource.nih.gov/literature/disease/0017651	0017651	608810	399058	C1837317	C563848	crystallin alpha B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 2"	1
Finnish upper limb-onset distal myopathy	distal myopathy type 3//mpd3//myopathy, distal, 3	HNRNPA1	HNRNPA1	https://raresource.nih.gov/literature/disease/0017652	0017652	610099	399086	C1864706		heterogeneous nuclear ribonucleoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Finnish upper limb-onset distal myopathy"	2
Miyoshi muscular dystrophy 3	distal anoctaminopathy//miyoshi muscular dystrophy type 3//miyoshi myopathy 3//mmd3//mmd3 - miyoshi muscular dystrophy type 3	ANO5	ANO5	https://raresource.nih.gov/literature/disease/0017653	0017653	613319	399096	C2750076	C567645	anoctamin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Miyoshi muscular dystrophy 3"	12
Pancytopenia-developmental delay syndrome	bone marrow failure syndrome 2//bone marrow failure syndrome type 2//trilineage bone marrow failure-developmental delay syndrome	ERCC6L2	ERCC6L2	https://raresource.nih.gov/literature/disease/0017655	0017655	615715	401764	C3810350		ERCC excision repair 6 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancytopenia-developmental delay syndrome"	1
Hereditary spastic paraplegia 61	arl6ip1 autosomal recessive complex spastic paraplegia//autosomal recessive complex spastic paraplegia caused by mutation in arl6ip1//autosomal recessive spastic paraplegia 61//autosomal recessive spastic paraplegia type 61//hereditary spastic paraplegia type 61//spastic paraplegia 61, autosomal recessive//spg61	ARL6IP1	ARL6IP1	https://raresource.nih.gov/literature/disease/0017656	0017656	615685	401780	C3810294		ARL6 interacting reticulophagy regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 61"	None
Hereditary spastic paraplegia 62	autosomal recessive pure spastic paraplegia caused by mutation in erlin1//autosomal recessive spastic paraplegia 62//autosomal recessive spastic paraplegia type 62//erlin1 autosomal recessive pure spastic paraplegia//hereditary spastic paraplegia type 62//spastic paraplegia 62, autosomal recessive//spg62	ERLIN1	ERLIN1	https://raresource.nih.gov/literature/disease/0017657	0017657	615681	401785	C4284588		ER lipid raft associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 62"	3
Hereditary spastic paraplegia 63	ampd2 autosomal recessive complex spastic paraplegia//autosomal recessive complex spastic paraplegia caused by mutation in ampd2//autosomal recessive spastic paraplegia 63//autosomal recessive spastic paraplegia type 63//hereditary spastic paraplegia type 63//spastic paraplegia 63//spastic paraplegia 63, autosomal recessive//spg63	AMPD2	AMPD2	https://raresource.nih.gov/literature/disease/0017658	0017658	615686	401805	C3810295		adenosine monophosphate deaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 63"	2
Hereditary spastic paraplegia 64	autosomal recessive complex spastic paraplegia caused by mutation in entpd1//autosomal recessive spastic paraplegia 64//autosomal recessive spastic paraplegia type 64//entpd1 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 64//spastic paraplegia 64, autosomal recessive//spg64	ENTPD1	ENTPD1	https://raresource.nih.gov/literature/disease/0017659	0017659	615683	401810	C3810289		ectonucleoside triphosphate diphosphohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 64"	4
Hereditary spastic paraplegia 72	autosomal spastic paraplegia type 72//hereditary spastic paraplegia type 72//pure hereditary spastic paraplegia caused by mutation in reep2//reep2 pure hereditary spastic paraplegia//spastic paraplegia 72, autosomal recessive//spg72//spg72a	REEP2	REEP2	https://raresource.nih.gov/literature/disease/0017660	0017660	615625	401849	C5882669		receptor accessory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 72"	None
Multiple mitochondrial dysfunctions syndrome 1	fatal multiple mitochondrial dysfunctions syndrome caused by mutation in nfu1//mmds1//mmds1 - multiple mitochondrial dysfunctions syndrome type 1//multiple mitochondrial dysfunctions syndrome type 1//nfu1 (nfu1 iron-sulfur cluster scaffold) deficiency//nfu1 deficiency//nfu1 fatal multiple mitochondrial dysfunctions syndrome	NFU1	NFU1	https://raresource.nih.gov/literature/disease/0017661	0017661	605711	401869	C3276432		NFU1 iron-sulfur cluster scaffold	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 1"	14
Multiple mitochondrial dysfunctions syndrome 2	bola3 (bola family member 3) deficiency//bola3 deficiency//bola3 fatal multiple mitochondrial dysfunctions syndrome//fatal multiple mitochondrial dysfunctions syndrome caused by mutation in bola3//mmds2//mmds2 - multiple mitochondrial dysfunctions syndrome type 2//multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia//multiple mitochondrial dysfunctions syndrome type 2	BOLA3	BOLA3	https://raresource.nih.gov/literature/disease/0017662	0017662	614299	401874	C3280378		bolA family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 2"	6
Moyamoya disease with early-onset achalasia	moyamoya 6 with achalasia//moyamoya disease 6 with achalasia	GUCY1A1	GUCY1A1	https://raresource.nih.gov/literature/disease/0017664	0017664	615750	401945	C3810403		guanylate cyclase 1 soluble subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moyamoya disease with early-onset achalasia"	None
MEND syndrome	male ebp disorder with neurologic defects//male ebp disorder with neurological defects//mend//mend syndrome, x-linked recessive	EBP	EBP	https://raresource.nih.gov/literature/disease/0017666	0017666	300960	401973	C4085243		EBP cholestenol delta-isomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEND syndrome"	13
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type	autosomal recessive spondylometaphyseal dysplasia, mégarbané type//pam16 spondylodysplastic dysplasia//spondylodysplastic dysplasia caused by mutation in pam16//spondylometaphyseal dysplasia, megarbane-dagher-melike type//spondylometaphyseal dysplasia, megarbane-dagher-melki type	PAM16	PAM16	https://raresource.nih.gov/literature/disease/0017667	0017667	613320	401979	C2750075	C567644	presequence translocase associated motor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spondylometaphyseal dysplasia, Megarbane type"	None
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering//palmoplantar keratoderma, focal or diffuse//ppknefd	KRT6C	KRT6C	https://raresource.nih.gov/literature/disease/0017669	0017669	615735	402003	C3810394		keratin 6C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	None
Familial bicuspid aortic valve	familial bav//familial bav (bicuspid aortic valve)	GATA5;SMAD6;NKX2-5;NOTCH1	GATA5;SMAD6;NKX2-5;NOTCH1	https://raresource.nih.gov/literature/disease/0017670	0017670		402075	C4749284		GATA binding protein 5; SMAD family member 6; NK2 homeobox 5; notch receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial bicuspid aortic valve"	8
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	microcephaly, progressive, seizures, and cerebral and cerebellar atrophy//microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	QARS1	QARS1	https://raresource.nih.gov/literature/disease/0017672	0017672	615760	404437	C4014239		glutaminyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"	None
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	autosomal dominant intellectual disability 23//autosomal dominant mental retardation 23//intellectual developmental disorder, autosomal dominant 23//intellectual disability, autosomal dominant type 23//mental retardation, autosomal dominant type 23//mrd23	SETD5	SETD5	https://raresource.nih.gov/literature/disease/0017673	0017673	615761		C3810406		SET domain containing 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"	1
Tatton-Brown-Rahman overgrowth syndrome	dna methyltransferase 3 alpha overgrowth syndrome//dnmt3a-related overgrowth syndrome//tall stature, intellectual disability, facial dysmorphism syndrome//tall stature-intellectual disability-facial dysmorphism syndrome//tatton brown rahman syndrome//tatton-brown-rahman syndrome	DNMT3A	DNMT3A	https://raresource.nih.gov/literature/disease/0017674	0017674	615879	404443	C4014545		DNA methyltransferase 3 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tatton-Brown-Rahman overgrowth syndrome"	50
Female infertility due to zona pellucida defect	oocyte maturation defect 1//oocyte/zygote/embryo maturation arrest 1//ozema1	ZP1	ZP1	https://raresource.nih.gov/literature/disease/0017675	0017675	615774	404466	C4014291		zona pellucida glycoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Female infertility due to zona pellucida defect"	None
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	global developmental delay, lung cysts, overgrowth, and wilms tumor//global developmental delay, lung cysts, overgrowth, and wilms tumour//glow//glow (global developmental delay, lung cysts, overgrowth, wilms tumor) syndrome//glow syndrome//glow syndrome, somatic mosaic	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0017676	0017676	618272	404476	C4748924		dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome"	17
Spinocerebellar ataxia, autosomal recessive 23	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to tud deficiency//autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency//autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency//scar23//scar23 - spinocerebellar ataxia autosomal recessive type 23//spinocerebellar ataxia autosomal recessive type 23//spinocerebellar ataxia, autosomal recessive type 23	TDP2	TDP2	https://raresource.nih.gov/literature/disease/0017677	0017677	616949	404493	C4750914		tyrosyl-DNA phosphodiesterase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 23"	8
Autosomal recessive spinocerebellar ataxia 15	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in rubcn//autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to rubcn deficiency//autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to run and cysteine rich domain containing beclin 1 interacting protein deficiency//autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in rubcn//autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn (run and cysteine rich domain containing beclin 1 interacting protein) deficiency//autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency//autosomal recessive spinocerebellar ataxia type 15//rubcn autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome//rubcn autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome//salih ataxia//scar15//scar15 - autosomal recessive spinocerebellar ataxia type 15//spinocerebellar ataxia, autosomal recessive type 15	RUBCN	RUBCN	https://raresource.nih.gov/literature/disease/0017678	0017678	615705	404499	C3810326		rubicon autophagy regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 15"	3
Acrodermatitis continua suppurativa of Hallopeau	acrodermatitis continua of hallopeau//acrodermatitis perstans//deficiency of il-36r antagonist//deficiency of il-36ra//deficiency of the interleukin-36 receptor antagonist//dermatitis repens//ditra//familial generalised pustular psoriasis//familial generalized pustular psoriasis//il36rn psoriasis//interleukin 36 receptor antagonist deficiency//psoriasis 14, pustular//psoriasis caused by mutation in il36rn//psorp//psors14	IL36RN	IL36RN	https://raresource.nih.gov/literature/disease/0017679	0017679	614204	163931	C0392439		interleukin 36 receptor antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrodermatitis continua suppurativa of Hallopeau"	184
Pontocerebellar hypoplasia type 10	clp1 (cleavage and polyadenylation factor i subunit 1) related pontocerebellar hypoplasia//clp1 non-syndromic pontocerebellar hypoplasia//clp1-related pontocerebellar hypoplasia//congenital pontocerebellar hypoplasia type 10//non-syndromic pontocerebellar hypoplasia caused by mutation in clp1//pch10	CLP1	CLP1	https://raresource.nih.gov/literature/disease/0017680	0017680	615803	411493	C5190575		cleavage factor polyribonucleotide kinase subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 10"	6
Mild phosphoribosylpyrophosphate synthetase superactivity	mild prpp synthetase superactivity//mild prps1 superactivity	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0017681	0017681		411536	C5680016		phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild phosphoribosylpyrophosphate synthetase superactivity"	None
Severe phosphoribosylpyrophosphate synthetase superactivity	severe prpp synthetase superactivity//severe prps1 superactivity	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0017682	0017682		411543	C5680017		phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe phosphoribosylpyrophosphate synthetase superactivity"	None
Wolfram-like syndrome	hearing loss, progressive, with optic atrophy and/or impaired glucose regulation	WFS1	WFS1	https://raresource.nih.gov/literature/disease/0017683	0017683	614296	411590	C3280358	C565631	wolframin ER transmembrane glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolfram-like syndrome"	19
Parkinson disease, late-onset	autosomal dominant late-onset parkinson disease//hereditary late onset parkinson disease//hereditary late-onset parkinson disease//late onset parkinson disease//late onset parkinson's disease//late-onset parkinson disease//lopd//park//parkinson disease, age of onset, modifier, multifactorial//parkinson disease, late-onset, susceptibility to//parkinson disease, late-onset, susceptibility to, multifactorial//parkinson disease, susceptibility to//parkinson disease, susceptibility to, multifactorial//pd//susceptibility to parkinson's disease	MAPT;GBA1;SNCAIP;MT-TT;ATXN3;ATXN8OS;NR4A2;ADH1C;ATXN2;TBP	MAPT;GBA1;SNCAIP;MT-TT;ATXN3;ATXN8OS;NR4A2;ADH1C;ATXN2;TBP	https://raresource.nih.gov/literature/disease/0017684	0017684	168600	411602	C3160718		microtubule associated protein tau; glucosylceramidase beta 1; synuclein alpha interacting protein; mitochondrially encoded tRNA-Thr (ACN); ataxin 3; ATXN8 opposite strand lncRNA; nuclear receptor subfamily 4 group A member 2; alcohol dehydrogenase 1C (class I), gamma polypeptide; ataxin 2; TATA-box binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinson disease, late-onset"	86523
Juvenile nephropathic cystinosis	adolescent cystinosis//cystinosis, late-onset juvenile or adolescent nephropathic//cystinosis, late-onset juvenile or adolescent nephropathic type//cystinosis, type ii//intermediate cystinosis//juvenile cystinosis//late-onset cystinosis	CTNS	CTNS	https://raresource.nih.gov/literature/disease/0017685	0017685	219900	411634	C0268626	C562683	cystinosin, lysosomal cystine transporter	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile nephropathic cystinosis"	20
Maternal riboflavin deficiency		SLC52A1	SLC52A1	https://raresource.nih.gov/literature/disease/0017686	0017686	615026	411712	C4750953		solute carrier family 52 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternal riboflavin deficiency"	10
Developmental and epileptic encephalopathy, 23	dee23//early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome//eiee23//epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome//epileptic encephalopathy, early infantile, 23//epileptic encephalopathy, early infantile, type 23	DOCK7	DOCK7	https://raresource.nih.gov/literature/disease/0017687	0017687	615859	411986	C4014492		dedicator of cytokinesis 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 23"	None
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs//facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome//facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome//facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome//fdlab (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome//fdlab syndrome//traboulsi syndrome	ASPH	ASPH	https://raresource.nih.gov/literature/disease/0017688	0017688	601552	412022	C1832167	C563293	aspartate beta-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"	20
Autosomal recessive spinocerebellar ataxia 16	autosomal recessive cerebellar ataxia caused by mutation in stub1//autosomal recessive cerebellar ataxia due to stip1 homology and u-box containing protein 1 deficiency//autosomal recessive cerebellar ataxia due to stub1 (stip1 homology and u-box containing protein 1) deficiency//autosomal recessive cerebellar ataxia due to stub1 deficiency//autosomal recessive spinocerebellar ataxia type 16//scar16//scar16 - spinocerebellar ataxia autosomal recessive type 16//spinocerebellar ataxia autosomal recessive type 16//spinocerebellar ataxia, autosomal recessive type 16//stub1 autosomal recessive cerebellar ataxia	STUB1	STUB1	https://raresource.nih.gov/literature/disease/0017689	0017689	615768	412057	C5190574		STIP1 homology and U-box containing protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 16"	13
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	dst-related epidermolysis bullosa simplex//ebs due to bp230 deficiency//ebs-ar bp230//ebs3//epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency//epidermolysis bullosa simplex due to bp230 deficiency//epidermolysis bullosa simplex, autosomal recessive 2//epidermolysis bullosa simplex, autosomal recessive type 2	DST	DST	https://raresource.nih.gov/literature/disease/0017690	0017690	615425	412181	C3809470		dystonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	None
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	ebs due to exophilin 5 deficiency//ebs-ar exophilin 5//epidermolysis bullosa simplex due to exophilin 5 deficiency//epidermolysis bullosa, nonspecific, autosomal recessive	EXPH5	EXPH5	https://raresource.nih.gov/literature/disease/0017691	0017691	615028	412189	C3554367		exophilin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	None
Primary failure of tooth eruption	dental noneruption//pfe//pfe - primary failure of tooth eruption//posterior openbite malocclusion, familial//primary retention of teeth//unerupted second primary molar	PTH1R	PTH1R	https://raresource.nih.gov/literature/disease/0017692	0017692	125350	412206	C1852222	C565114	parathyroid hormone 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary failure of tooth eruption"	245
Dystonia 24	ano3 dystonic disorder//cranio-cervical dystonia with laryngeal and upper limb involvement//cranio-cervical dystonia with laryngeal and upper-limb involvement//dystonia type 24//dystonic disorder caused by mutation in ano3//dyt-ano3//dyt24//dyt24 - dystonia 24	ANO3	ANO3	https://raresource.nih.gov/literature/disease/0017693	0017693	615034	420485	C3554374		anoctamin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 24"	8
Platelet-type bleeding disorder 18	bdplt18//bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency//bleeding disorder due to caldag-gefi deficiency//inherited bleeding disorder, platelet-type caused by mutation in rasgrp2//rasgrp2 inherited bleeding disorder, platelet-type	RASGRP2	RASGRP2	https://raresource.nih.gov/literature/disease/0017695	0017695	615888	420566	C4014584		RAS guanyl releasing protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 18"	4
Severe combined immunodeficiency due to CTPS1 deficiency	combined immunodeficiency due to ctps1 deficiency//ctps1-related combined immunodeficiency//immunodeficiency 24//immunodeficiency type 24//scid due to ctps1 deficiency	CTPS1	CTPS1	https://raresource.nih.gov/literature/disease/0017696	0017696	615897	420573	C4014617		CTP synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to CTPS1 deficiency"	None
Wooly hair-palmoplantar keratoderma syndrome	keratoderma with woolly hair type iv//keratoderma with wooly hair type iv//kwwh type iv//palmoplantar keratoderma and woolly hair//woolly hair-palmoplantar hyperkeratosis syndrome//woolly hair-palmoplantar keratoderma syndrome//wooly hair-palmoplantar hyperkeratosis syndrome	KANK2	KANK2	https://raresource.nih.gov/literature/disease/0017697	0017697	616099	420686	C4015202		KN motif and ankyrin repeat domains 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wooly hair-palmoplantar keratoderma syndrome"	1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	neutropenia, severe congenital, 7, autosomal recessive	CSF3R	CSF3R	https://raresource.nih.gov/literature/disease/0017698	0017698	617014	420702	C4310764		colony stimulating factor 3 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"	None
Combined oxidative phosphorylation defect type 20	combined oxidative phosphorylation deficiency 20//combined oxidative phosphorylation deficiency caused by mutation in vars2//combined oxidative phosphorylation deficiency type 20//coxpd20//vars2 combined oxidative phosphorylation deficiency	VARS2	VARS2	https://raresource.nih.gov/literature/disease/0017699	0017699	615917	420728	C4014660		valyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 20"	3
Combined oxidative phosphorylation defect type 21	combined oxidative phosphorylation deficiency 21//combined oxidative phosphorylation deficiency caused by mutation in tars2//combined oxidative phosphorylation deficiency type 21//coxpd21//coxpd21 - combined oxidative phosphorylation defect type 21//tars2 combined oxidative phosphorylation deficiency	TARS2	TARS2	https://raresource.nih.gov/literature/disease/0017700	0017700	615918	420733	C4706316		threonyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 21"	3
RIDDLE syndrome	radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome//radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome//riddle (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome//rnf168 (ring finger protein 168) deficiency//rnf168 deficiency	RNF168	RNF168	https://raresource.nih.gov/literature/disease/0017701	0017701	611943	420741	C2677792	C567453	ring finger protein 168	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RIDDLE syndrome"	13
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	severe congenital neutropenia 6, autosomal recessive	JAGN1	JAGN1	https://raresource.nih.gov/literature/disease/0017702	0017702	616022	423384	C4014954		jagunal homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"	None
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	ectodermal dysplasia short stature syndrome//ectodermal dysplasia-short stature syndrome//ectodermal dysplasia/short stature syndrome//nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome//short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome//short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	GRHL2	GRHL2	https://raresource.nih.gov/literature/disease/0017703	0017703	616029	423454	C4014987		grainyhead like transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	None
Pseudo-Hurler polydystrophy	ml 3 alpha/beta//ml iii//ml iii alpha/beta//ml iiia//mliii//mucolipidosis iii//mucolipidosis iiia//mucolipidosis type 3 alpha/beta//mucolipidosis type iii//mucolipidosis type iii, alpha/beta//mucolipidosis, type iii alpha/beta//pseudo-hurler disease//pseudo-hurler's disease//type iii mucolipidosis	GNPTAB	GNPTAB	https://raresource.nih.gov/literature/disease/0017704	0017704	252600		C0033788		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo-Hurler polydystrophy"	182
GNPTG-mucolipidosis	ml 3 gamma//ml iii gamma//ml iiic//mucolipidosis iii, complementation group c//mucolipidosis iii, iranian variant form//mucolipidosis iii, variant form//mucolipidosis type 3 gamma//mucolipidosis type iii gamma	GNPTG	GNPTG	https://raresource.nih.gov/literature/disease/0017705	0017705	252605	423470	C1854896	C565367	N-acetylglucosamine-1-phosphate transferase subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GNPTG-mucolipidosis"	13
Progressive myoclonic epilepsy type 8	cers1 progressive myoclonic epilepsy//epilepsy, progressive myoclonic, type 8//epm8//pme (progressive myoclonic epilepsy) type 8//pme type 8//progressive myoclonic epilepsy caused by mutation in cers1//progressive myoclonic epilepsy due to ceramide synthase 1 deficiency//progressive myoclonic epilepsy due to cers1 (ceramide synthase 1) deficiency//progressive myoclonic epilepsy due to cers1 deficiency//progressive myoclonus epilepsy type 8	CERS1	CERS1	https://raresource.nih.gov/literature/disease/0017706	0017706	616230	424027	C5190825		ceramide synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 8"	1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome	mcsks//microphthalmia, syndromic type 14//microphthalmia-coloboma-rhizomelic skeletal dysplasia//microphthalmia/coloboma and skeletal dysplasia syndrome	MAB21L2	MAB21L2	https://raresource.nih.gov/literature/disease/0017707	0017707	615877	424099	C4014540		mab-21 like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colobomatous microphthalmia-rhizomelic dysplasia syndrome"	None
Autosomal recessive limb-girdle muscular dystrophy type 2Y	autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1//autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency//autosomal recessive muscular dystrophy due to lap1b deficiency//autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency//lgmd type 2y//lgmd2y//mrrsdc//muscular dystrophy with progressive weakness, distal contracture and rigid spine//muscular dystrophy with progressive weakness, distal contractures and rigid spine//muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures//muscular dystrophy, limb-girdle, type 2y//tor1aip1 autosomal recessive limb-girdle muscular dystrophy//tor1aip1-related lgmd//tor1aip1-related limb-girdle muscular dystrophy	TOR1AIP1	TOR1AIP1	https://raresource.nih.gov/literature/disease/0017708	0017708	617072	424261	C4511482		torsin 1A interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2Y"	2
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation//maine microphthalmos//microphthalmia, syndromic 13//microphthalmia, syndromic type 13//x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome	HMGB3	HMGB3	https://raresource.nih.gov/literature/disease/0017709	0017709	300915	431140	C3806742		high mobility group box 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"	None
Combined immunodeficiency due to OX40 deficiency	combined immunodeficiency with childhood-onset kaposi sarcoma//combined immunodeficiency with impaired immunity to hhv-8//combined immunodeficiency with impaired immunity to human herpes virus 8//immunodeficiency 16//immunodeficiency type 16//ox40 deficiency	TNFRSF4	TNFRSF4	https://raresource.nih.gov/literature/disease/0017710	0017710	615593	431149	C3810053		TNF receptor superfamily member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to OX40 deficiency"	7
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	imd44//immunodeficiency 44//immunodeficiency type 44//primary immunodeficiency with post-mmr vaccine viral infection	STAT2	STAT2	https://raresource.nih.gov/literature/disease/0017711	0017711	616636	431166	C4225260		signal transducer and activator of transcription 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"	None
Hereditary spastic paraplegia 57	autosomal recessive spastic paraplegia 57//autosomal recessive spastic paraplegia type 57//hereditary spastic paraplegia caused by mutation in tfg//hereditary spastic paraplegia type 57//spastic paraplegia 57, autosomal recessive//spastic paraplegia due to partial tfg deficiency//spg57//tfg hereditary spastic paraplegia	TFG	TFG	https://raresource.nih.gov/literature/disease/0017712	0017712	615658	431329	C3714897		trafficking from ER to golgi regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 57"	None
Charcot-Marie-Tooth disease type 2Y	autosomal dominant axonal charcot-marie-tooth type 2y//autosomal dominant charcot-marie-tooth disease type 2 due to vcp (valosin containing protein) mutation//autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation//autosomal dominant charcot-marie-tooth disease type 2y//charcot-marie-tooth disease type 2 caused by mutation in vcp//charcot-marie-tooth disease, axonal, autosomal dominant, type 2y//charcot-marie-tooth disease, axonal, type 2y//charcot-marie-tooth neuropathy type 2y//charcot-marie-tooth neuropathy, type 2y//cmt2 due to vcp mutation//cmt2y//vcp charcot-marie-tooth disease type 2	VCP	VCP	https://raresource.nih.gov/literature/disease/0017714	0017714	616687	435387	C5569026		valosin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2Y"	None
Progressive myoclonic epilepsy type 7	epilepsy, progressive myoclonic type 7//epm7//epm7 - epilepsy progressive myoclonic 7//kcnc1 progressive myoclonic epilepsy//meak//myoclonus epilepsy and ataxia due to potassium channel mutation//pme type 7//progressive myoclonic epilepsy caused by mutation in kcnc1//progressive myoclonic epilepsy due to kv3.1 deficiency//progressive myoclonus epilepsy type 7	KCNC1	KCNC1	https://raresource.nih.gov/literature/disease/0017715	0017715	616187	435438	C4015420		potassium voltage-gated channel subfamily C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 7"	9
Keppen-Lubinsky syndrome	generalised lipodystrophy-progeroid features-severe intellectual disability syndrome//generalized lipodystrophy, progeroid features, severe intellectual disability syndrome//generalized lipodystrophy-progeroid features-severe intellectual disability syndrome//kplbs	KCNJ6	KCNJ6	https://raresource.nih.gov/literature/disease/0017716	0017716	614098	435628	C3279800		potassium inwardly rectifying channel subfamily J member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keppen-Lubinsky syndrome"	7
Short stature-advanced bone age-early-onset osteoarthritis syndrome		ACAN	ACAN	https://raresource.nih.gov/literature/disease/0017717	0017717		435804	C5681177		aggrecan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-advanced bone age-early-onset osteoarthritis syndrome"	None
Neonatal-onset encephalopathy with rigidity and seizures	lethal neonatal rigidity, multifocal seizure syndrome//lethal neonatal rigidity-multifocal seizure syndrome//lethal neonatal spasticity, epileptic encephalopathy syndrome//lethal neonatal spasticity-epileptic encephalopathy syndrome	BRAT1	BRAT1	https://raresource.nih.gov/literature/disease/0017718	0017718	614498	435845	C3281029		BRCA1 associated ATM activator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal-onset encephalopathy with rigidity and seizures"	None
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	odrmd//optic disc anomalies with retinal and/or macular dystrophy	SIX6	SIX6	https://raresource.nih.gov/literature/disease/0017719	0017719	212550	435930	C4225424	C565876	SIX homeobox 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	None
Congenital disorder of glycosylation, type IIq	cdg iiq//cog2-cdg//cog2-cdg - component of oligomeric golgi complex 2 - congenital disorder of glycosylation//cog2-related congenital disorder of glycosylation//component of oligomeric golgi complex 2-related congenital disorder of glycosylation	COG2	COG2	https://raresource.nih.gov/literature/disease/0017720	0017720	617395	435934	C4479353		component of oligomeric golgi complex 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIq"	None
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		RPL10	RPL10	https://raresource.nih.gov/literature/disease/0017721	0017721		435938	C5681178		ribosomal protein L10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"	None
Progeroid features-hepatocellular carcinoma predisposition syndrome	ruijs aalfs syndrome//ruijs-aalfs syndrome	SPRTN	SPRTN	https://raresource.nih.gov/literature/disease/0017722	0017722	616200	435953	C4015461		SprT-like N-terminal domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progeroid features-hepatocellular carcinoma predisposition syndrome"	9
Charcot-Marie-Tooth disease recessive intermediate D	autosomal recessive intermediate charcot-marie-tooth disease type d//charcot-marie-tooth disease caused by mutation in cox6a1//charcot-marie-tooth disease recessive intermediate type d//charcot-marie-tooth disease, recessive intermediate type d//cmtrid//cox6a1 charcot-marie-tooth disease//ri-cmt type d	COX6A1	COX6A1	https://raresource.nih.gov/literature/disease/0017723	0017723	616039	435998	C5569027		cytochrome c oxidase subunit 6A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease recessive intermediate D"	None
Periodic fever-infantile enterocolitis-autoinflammatory syndrome	autoinflammation with infantile enterocolitis//nlrc4-related autoinflammatory syndrome with macrophage activation syndrome//nlrc4-related autoinflammatory syndrome with mas//nlrc4-related infantile enterocolitis, autoinflammatory syndrome//nlrc4-related infantile enterocolitis-autoinflammatory syndrome//nlrc4-related macrophage activation syndrome//nlrc4-related mas	NLRC4	NLRC4	https://raresource.nih.gov/literature/disease/0017725	0017725	616050	436166	C4015067		NLR family CARD domain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periodic fever-infantile enterocolitis-autoinflammatory syndrome"	4
Thrombomodulin-related bleeding disorder	thbd (thrombomodulin) related bleeding disorder//thbd-related bleeding disorder//thbd-related coagulopathy//thph12//thrombomodulin-related coagulopathy//thrombophilia 12 due to thrombomodulin defect//thrombophilia due to thrombomodulin defect	THBD	THBD	https://raresource.nih.gov/literature/disease/0017726	0017726	614486	436169	C3280976	C566057	thrombomodulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombomodulin-related bleeding disorder"	None
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	cagsss//cagsss - cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome//cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	IARS2	IARS2	https://raresource.nih.gov/literature/disease/0017727	0017727	616007	436174	C4014942		isoleucyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	3
Atrial conduction disease	cardiac conduction disease with or without cardiomyopathy 1//cardiac conduction disease with or without dilated cardiomyopathy//familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease	TNNI3K	TNNI3K	https://raresource.nih.gov/literature/disease/0017729	0017729	616117	436242	C4015285		TNNI3 interacting kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial conduction disease"	3
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	retinal dystrophy, juvenile cataract, short stature syndrome//retinal dystrophy, juvenile cataracts, and short stature syndrome//retinal dystrophy-juvenile cataract-short stature syndrome	RDH11	RDH11	https://raresource.nih.gov/literature/disease/0017730	0017730	616108	436245	C4015242		retinol dehydrogenase 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"	None
Gastrointestinal defects and immunodeficiency syndrome 1	cid-mia/early-onset ibd - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease//combined immunodeficiency, enteropathy spectrum//combined immunodeficiency-enteropathy spectrum//fipa//gidid1//minat//multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency	TTC7A	TTC7A	https://raresource.nih.gov/literature/disease/0017731	0017731			C5680044		tetratricopeptide repeat domain 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gastrointestinal defects and immunodeficiency syndrome 1"	100
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity//cd16 deficiency//immunodeficiency 20//immunodeficiency type 20	FCGR3A	FCGR3A	https://raresource.nih.gov/literature/disease/0017732	0017732	615707	437552	C3810342		Fc gamma receptor IIIa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"	1
Ketoacidosis due to monocarboxylate transporter-1 deficiency	monocarboxylate transporter 1 deficiency	SLC16A1	SLC16A1	https://raresource.nih.gov/literature/disease/0017733	0017733	616095	438075	C4015186		solute carrier family 16 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ketoacidosis due to monocarboxylate transporter-1 deficiency"	10
Hypomyelinating leukodystrophy 9	arginyl-trna synthetase 1-related autosomal recessive hypomyelinating leukodystrophy//hld9//hypomyelinating leukodystrophy type 9//leukodystrophy caused by mutation in rars//leukodystrophy, hypomyelinating, type 9//rars leukodystrophy//rars-related autosomal recessive hypomyelinating leukodystrophy	RARS1	RARS1	https://raresource.nih.gov/literature/disease/0017734	0017734	616140	438114	C4015323		arginyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 9"	4
Steel syndrome	bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome//bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome//stls	COL27A1	COL27A1	https://raresource.nih.gov/literature/disease/0017735	0017735	615155	438117	C3554594		collagen type XXVII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Steel syndrome"	64
Ataxia-telangiectasia-like disorder 2	ataxia-telangiectasia-like disorder type 2//atld2//pcna-related progressive neurodegenerative photosensitivity syndrome//proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome	PCNA	PCNA	https://raresource.nih.gov/literature/disease/0017736	0017736	615919	438134	C4014676		proliferating cell nuclear antigen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-telangiectasia-like disorder 2"	2
STAT3-related early-onset multisystem autoimmune disease	autoimmune disease, multisystem, infantile-onset, 1//signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease	STAT3	STAT3	https://raresource.nih.gov/literature/disease/0017737	0017737	615952	438159	C4014795		signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=STAT3-related early-onset multisystem autoimmune disease"	None
Platelet-type bleeding disorder 19	bdplt19//isolated hereditary giant platelet disorder caused by mutation in prkacg//prkacg isolated hereditary giant platelet disorder//severe autosomal recessive macrothrombocytopenia	PRKACG	PRKACG	https://raresource.nih.gov/literature/disease/0017738	0017738	616176	438207	C4015405		protein kinase cAMP-activated catalytic subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 19"	None
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	autosomal dominant intellectual disability 31//autosomal dominant mental retardation 31//intellectual disability, autosomal dominant type 31//mental retardation, autosomal dominant type 31//mrd31//pura syndrome	PURA	PURA	https://raresource.nih.gov/literature/disease/0017740	0017740		438216	CN924912		purine rich element binding protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"	40
Chromosome 5q12 deletion syndrome	pde4d haploinsufficiency syndrome	PDE4D	PDE4D	https://raresource.nih.gov/literature/disease/0017742	0017742	615668	439822	C3810282		phosphodiesterase 4D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 5q12 deletion syndrome"	None
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome//meckel syndrome 12//meckel syndrome type 12	KIF14	KIF14	https://raresource.nih.gov/literature/disease/0017743	0017743	616258	439897	C4015701		kinesin family member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"	None
SFTPC-related interstitial lung disease	interstitial lung disease due to sp-c deficiency//interstitial lung disease due to surfactant protein c deficiency//sftpc-related ild	SFTPC	SFTPC	https://raresource.nih.gov/literature/disease/0017744	0017744		440392	CN294154		surfactant protein C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SFTPC-related interstitial lung disease"	None
Interstitial lung disease due to ABCA3 deficiency	abca3-related pulmonary surfactant metabolism dysfunction//interstitial lung disease due to abca3 (atp-binding cassette subfamily a member 3) deficiency//interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency//pulmonary alveolar proteinosis, congenital, 3//surfactant metabolism dysfunction, pulmonary, type 3	ABCA3	ABCA3	https://raresource.nih.gov/literature/disease/0017745	0017745	610921	440402	C1970456	C567046	ATP binding cassette subfamily A member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Interstitial lung disease due to ABCA3 deficiency"	1
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	hereditary pulmonary alveolar proteinosis with hepatic involvement//interstitial lung and liver disease//pap, reunion island type//pulmonary alveolar proteinosis reunion island type//pulmonary alveolar proteinosis, reunion island//pulmonary alveolar proteinosis, reunion island type//severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency	MARS1	MARS1	https://raresource.nih.gov/literature/disease/0017746	0017746	615486	440427	C4225400		methionyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"	8
Deficiency of ribose-5-phosphate isomerase	deficiency of phosphopentosisomerase//deficiency of phosphoriboisomerase//ribose 5-phosphate isomerase deficiency//ribose-5-p isomerase deficiency	RPIA	RPIA	https://raresource.nih.gov/literature/disease/0017747	0017747	608611	440706	C1291609	C563212	ribose 5-phosphate isomerase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of ribose-5-phosphate isomerase"	10
L-ferritin deficiency	l-ferritin deficiency, autosomal dominant//l-ferritin deficiency, dominant and recessive//lftd//lftd - l-ferritin deficiency	FTL	FTL	https://raresource.nih.gov/literature/disease/0017748	0017748	615604	440731	C3810090		ferritin light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=L-ferritin deficiency"	2
Familial porphyria cutanea tarda	hereditary porphyria cutanea tarda//pct//pct (porphyria cutanea tarda) type ii//pct, ''familial'' type//pct, type ii//porphyria cutanea tarda type ii//porphyria cutanea tarda, susceptibility to//porphyria cutanea tarda, type ii//urod deficiency//uroporphyrinogen decarboxylase deficiency	UROD	UROD	https://raresource.nih.gov/literature/disease/0017750	0017750		443062	C0268323		uroporphyrinogen decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial porphyria cutanea tarda"	813
Charcot-Marie-Tooth disease axonal type 2S	autosomal recessive axonal charcot-marie-tooth type 2s//charcot-marie-tooth disease caused by mutation in ighmbp2//charcot-marie-tooth disease type 2s//charcot-marie-tooth disease, axonal, autosomal recessive, type 2s//charcot-marie-tooth neuropathy type 2s//charcot-marie-tooth neuropathy, type 2s//cmt2s//ighmbp2 charcot-marie-tooth disease	IGHMBP2	IGHMBP2	https://raresource.nih.gov/literature/disease/0017751	0017751	616155	443073	C4015349		immunoglobulin mu DNA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2S"	25
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	46,xy sex reversal 8//46,xy sex reversal 8, modifier of//46,xy sex reversal type 8//46xy sex reversal 8//46xy sex reversal 8, modifier of//male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2	AKR1C2	https://raresource.nih.gov/literature/disease/0017752	0017752	614279	443087	C1839840	C564109	aldo-keto reductase family 1 member C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"	None
Hyperostosis cranialis interna	enlargement of the inner surface of the skull bones//excessive growth of inner surface of the skull bones//hyperostosis cranalis interna//hyperostosis cranialis interna (disease)//hyperostosis of the internal surface of the cranial bone//hyperostosis of the internal surface of the cranial bones//hypertrophy of the internal surface of the cranial bones//increased ossification of the internal surface of the cranial bones//overgrowth of the inner surface of the skull bones//overgrowth of the inside of the skull//thick inner surface of the skull bones//thick internal surface of the cranial bones	SLC39A14	SLC39A14	https://raresource.nih.gov/literature/disease/0017753	0017753	144755	443098	C1840404	C564168	solute carrier family 39 member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperostosis cranialis interna"	15
X-linked erythropoietic protoporphyria	erythrohepatic protoporphyria, x-linked//erythropoietic protoporphyria, x-linked//erythropoietic protoporphyria, x-linked dominant//x-linked dominant erythropoietic protoporphyria//x-linked dominant protoporphyria//x-linked protoporphyria//xldpp//xlpp	ALAS2	ALAS2	https://raresource.nih.gov/literature/disease/0017755	0017755	300752	443197	C2677889	C567464	5'-aminolevulinate synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked erythropoietic protoporphyria"	90
Ventriculomegaly-cystic kidney disease	cerebral ventriculomegaly, cystic kidney disease//congenital nephrosis, cerebral ventriculomegaly syndrome//congenital nephrosis-cerebral ventriculomegaly syndrome//ventriculomegaly with cystic kidney disease//vmckd//vmckd - ventriculomegaly with cystic kidney disease	CRB2	CRB2	https://raresource.nih.gov/literature/disease/0017757	0017757	219730	443988	C1857423		crumbs cell polarity complex component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ventriculomegaly-cystic kidney disease"	1
Mandibulofacial dysostosis with alopecia	mfda//mfda - mandibulofacial dysostosis with alopecia	EDNRA	EDNRA	https://raresource.nih.gov/literature/disease/0017758	0017758	616367	443995	C4225349		endothelin receptor type A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibulofacial dysostosis with alopecia"	4
Combined oxidative phosphorylation defect type 23	combined oxidative phosphorylation deficiency 23//combined oxidative phosphorylation deficiency caused by mutation in gtpbp3//combined oxidative phosphorylation deficiency type 23//coxpd23//coxpd23 - combined oxidative phosphorylation defect type 23//gtpbp3 combined oxidative phosphorylation deficiency	GTPBP3	GTPBP3	https://raresource.nih.gov/literature/disease/0017759	0017759	616198	444013	C5567743		GTP binding protein 3, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 23"	7
46,XX ovarian dysgenesis-short stature syndrome	odg4//ovarian dysgenesis 4//ovarian dysgenesis type 4	MCM9	MCM9	https://raresource.nih.gov/literature/disease/0017760	0017760	616185	444048	C4015409		minichromosome maintenance 9 homologous recombination repair factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX ovarian dysgenesis-short stature syndrome"	None
Cerebellar-facial-dental syndrome	cerebellofaciodental syndrome	BRF1	BRF1	https://raresource.nih.gov/literature/disease/0017761	0017761	616202	444072	C4015495		BRF1 general transcription factor IIIB subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar-facial-dental syndrome"	8
Autoimmune interstitial lung disease-arthritis syndrome	autoimmune interstitial lung, joint, and kidney disease//autoinflammation and autoimmunity, systemic, with immune dysregulation//copa defect//copa syndrome	COPA	COPA	https://raresource.nih.gov/literature/disease/0017762	0017762	616414	444092	C5975714		COPI coat complex subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune interstitial lung disease-arthritis syndrome"	65
Hereditary spastic paraplegia 73	autosomal dominant pure spastic paraplegia caused by mutation in cpt1c//autosomal dominant spastic paraplegia 73//autosomal dominant spastic paraplegia type 73//cpt1c autosomal dominant pure spastic paraplegia//hereditary spastic paraplegia type 73//spastic paraplegia 73, autosomal dominant//spg73	CPT1C	CPT1C	https://raresource.nih.gov/literature/disease/0017763	0017763	616282	444099	C5568981		carnitine palmitoyltransferase 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 73"	1
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads//peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome//peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome//peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome//plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome//plack syndrome	CAST	CAST	https://raresource.nih.gov/literature/disease/0017764	0017764	616295	444138	C4225381		calpastatin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	15
Combined oxidative phosphorylation defect type 24	combined oxidative phosphorylation deficiency 24//combined oxidative phosphorylation deficiency caused by mutation in nars2//combined oxidative phosphorylation deficiency type 24//coxpd24//coxpd24 - combined oxidative phosphorylation defect type 24//nars2 combined oxidative phosphorylation deficiency	NARS2	NARS2	https://raresource.nih.gov/literature/disease/0017765	0017765	616239	444458	C4015643		asparaginyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 24"	9
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	evans syndrome associated with primary immunodeficiency//tppii deficiency//tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease//triangle disease//tripeptidyl-peptidase ii deficiency	TPP2	TPP2	https://raresource.nih.gov/literature/disease/0017766	0017766	619220	444463	CN237691		tripeptidyl peptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"	3
3-methylglutaconic aciduria, type VIIB	3-methylglutaconic aciduria type 7//3-methylglutaconic aciduria type vii//3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia//3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia//3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome//clpb 3-methylglutaconic aciduria//megcann//mga7//mgca7//mgca7b	CLPB	CLPB	https://raresource.nih.gov/literature/disease/0017767	0017767	616271	445038	C5676893		ClpB family mitochondrial disaggregase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria, type VIIB"	6
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus//combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome//combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome//combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome//combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome	DNAJC3	DNAJC3	https://raresource.nih.gov/literature/disease/0017768	0017768	616192	445062	C4015436		DnaJ heat shock protein family (Hsp40) member C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	None
Limb-girdle muscular dystrophy due to POMK deficiency	lgmd due to pomk deficiency//limb girdle muscular dystrophy due to protein o-mannose kinase deficiency//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12//muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related	POMK	POMK	https://raresource.nih.gov/literature/disease/0017769	0017769	616094	445110	C4015184		protein O-mannose kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Limb-girdle muscular dystrophy due to POMK deficiency"	None
Autosomal recessive complex spastic paraplegia type 9B	aldh18a1 autosomal recessive complex spastic paraplegia//ar-spg9b//autosomal recessive complex spastic paraplegia caused by mutation in aldh18a1//autosomal recessive spastic paraplegia 9b//autosomal recessive spastic paraplegia type 9b//hereditary spastic paraplegia type 9b//spastic paraplegia 9b, autosomal recessive//spg9b	ALDH18A1	ALDH18A1	https://raresource.nih.gov/literature/disease/0017770	0017770	616586	447760	C5568980		aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive complex spastic paraplegia type 9B"	1
Mitochondrial pyruvate carrier deficiency	mpycd	MPC1	MPC1	https://raresource.nih.gov/literature/disease/0017771	0017771	614741	447784	C3553607		mitochondrial pyruvate carrier 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial pyruvate carrier deficiency"	6
Polymerase proofreading-related adenomatous polyposis	ppap	POLE;POLD1	POLE;POLD1	https://raresource.nih.gov/literature/disease/0017772	0017772		447877	C0130294		DNA polymerase epsilon, catalytic subunit; DNA polymerase delta 1, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polymerase proofreading-related adenomatous polyposis"	63
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome		POLR3A	POLR3A	https://raresource.nih.gov/literature/disease/0017773	0017773		447893	C5681201		RNA polymerase III subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"	None
Tremor-ataxia-central hypomyelination syndrome	tach syndrome	POLR3A	POLR3A	https://raresource.nih.gov/literature/disease/0017774	0017774		447896	C5680067		RNA polymerase III subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tremor-ataxia-central hypomyelination syndrome"	None
Combined oxidative phosphorylation defect type 25	combined oxidative phosphorylation deficiency 25//combined oxidative phosphorylation deficiency caused by mutation in mars2//combined oxidative phosphorylation deficiency type 25//coxpd25//coxpd25 - combined oxidative phosphorylation defect type 25//mars2 combined oxidative phosphorylation deficiency	MARS2	MARS2	https://raresource.nih.gov/literature/disease/0017775	0017775	616430	447954	C5567742		methionyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 25"	1
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome		SASH1	SASH1	https://raresource.nih.gov/literature/disease/0017776	0017776	618373	447961	C5681108		SAM and SH3 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"	None
Charcot-Marie-Tooth disease axonal type 2V	autosomal dominant axonal charcot-marie-tooth disease type 2v//autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation//autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation//autosomal dominant charcot-marie-tooth disease type 2v//charcot-marie-tooth disease caused by mutation in naglu//charcot-marie-tooth disease, axonal, autosomal dominant, type 2v//charcot-marie-tooth neuropathy type 2v//charcot-marie-tooth neuropathy, type 2v//cmt2v//hereditary adult onset painful axonal polyneuropathy//hereditary adult-onset painful axonal polyneuropathy//naglu charcot-marie-tooth disease	NAGLU	NAGLU	https://raresource.nih.gov/literature/disease/0017777	0017777	616491	447964	C5569050		N-acetyl-alpha-glucosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2V"	None
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism//klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	MYO18B	MYO18B	https://raresource.nih.gov/literature/disease/0017778	0017778	616549	447974	C4225285		myosin XVIIIB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	None
Progressive scapulohumeroperoneal distal myopathy	myopathy, scapulohumeroperoneal	ACTA1	ACTA1	https://raresource.nih.gov/literature/disease/0017779	0017779	616852	447977	C4225181		actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive scapulohumeroperoneal distal myopathy"	None
Lichtenstein-Knorr syndrome	autosomal recessive spinocerebellar ataxia type 19//likns//progressive autosomal recessive ataxia, deafness syndrome//progressive autosomal recessive ataxia-deafness syndrome//progressive autosomal recessive ataxia-sensorineural hearing loss syndrome//progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome//scar19//scar19 - spinocerebellar ataxia, autosomal recessive 19//slc9a1-related spinocerebellar ataxia syndrome//spinocerebellar ataxia, autosomal recessive 19	SLC9A1	SLC9A1	https://raresource.nih.gov/literature/disease/0017780	0017780	616291	448251	C4225383		solute carrier family 9 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lichtenstein-Knorr syndrome"	4
Isolated focal non-epidermolytic palmoplantar keratoderma	palmoplantar keratoderma, nonepidermolytic, focal 2//palmoplantar keratoderma, nonepidermolytic, focal type 2	TRPV3	TRPV3	https://raresource.nih.gov/literature/disease/0017781	0017781	616400	448264	C4225339		transient receptor potential cation channel subfamily V member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated focal non-epidermolytic palmoplantar keratoderma"	None
Regressive spondylometaphyseal dysplasia	pelger-huet anomaly with mild skeletal anomalies	LBR	LBR	https://raresource.nih.gov/literature/disease/0017782	0017782	618019	448267	C4747922		lamin B receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Regressive spondylometaphyseal dysplasia"	None
Familial congenital nasolacrimal duct obstruction	lacrimal duct defect//lacrimal puncta, absence of	IGSF3	IGSF3	https://raresource.nih.gov/literature/disease/0017784	0017784	149700	451612	C1835612	C566703	immunoglobulin superfamily member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial congenital nasolacrimal duct obstruction"	1
Autosomal recessive spinocerebellar ataxia 17	autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency//autosomal recessive cerebellar ataxia due to cwf19l1 deficiency//autosomal recessive congenital cerebellar ataxia caused by mutation in cwf19l1//autosomal recessive spinocerebellar ataxia type 17//cwf19l1 autosomal recessive congenital cerebellar ataxia//scar17//scar17 - spinocerebellar ataxia autosomal recessive type 17//spinocerebellar ataxia autosomal recessive type 17//spinocerebellar ataxia, autosomal recessive type 17	CWF19L1	CWF19L1	https://raresource.nih.gov/literature/disease/0017786	0017786	616127	453521	C4015301		CWF19 like cell cycle control factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia 17"	1
Polyendocrine-polyneuropathy syndrome	pepns//pepns - polyendocrine polyneuropathy syndrome	DMXL2	DMXL2	https://raresource.nih.gov/literature/disease/0017787	0017787	616113	453533	C4015261		Dmx like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyendocrine-polyneuropathy syndrome"	None
Pleomorphic adenoma of salivary gland	adenomas, salivary gland pleomorphic, somatic//pleomorphic adenoma//pleomorphic adenoma (morphologic abnormality)//salivary gland adenoma, pleomorphic//tumor, mixed, benign	PLAG1	PLAG1	https://raresource.nih.gov/literature/disease/0017789	0017789	181030		C1519176	D008949	PLAG1 zinc finger	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pleomorphic adenoma of salivary gland"	3370
Familial adenomatous polyposis 3	familial adenomatous polyposis type 3//fap3//nthl1-related adenomatous polyposis and colorectal cancer//nthl1-related afap//nthl1-related attenuated familial adenomatous polyposis//nthl1-related attenuated fap	NTHL1	NTHL1	https://raresource.nih.gov/literature/disease/0017790	0017790	616415	454840	C4225157		nth like DNA glycosylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial adenomatous polyposis 3"	None
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	imnepd//imnepd1//infantile multisystem neurologic-endocrine-pancreatic disease//infantile-onset multisystem neurologic, endocrine, and pancreatic disease	PTRH2	PTRH2	https://raresource.nih.gov/literature/disease/0017791	0017791	616263	456312	C4015728		peptidyl-tRNA hydrolase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1"	15
Polyglucosan body myopathy type 2	gyg1 polyglucosan body myopathy//pgbm2 - polyglucosan body myopathy type 2//polyglucosan body myopathy caused by mutation in gyg1	GYG1	GYG1	https://raresource.nih.gov/literature/disease/0017793	0017793	616199	456369	C4015452		glycogenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyglucosan body myopathy type 2"	None
Autosomal dominant mitochondrial myopathy with exercise intolerance	immd//myopathy, isolated mitochondrial, autosomal dominant	CHCHD10	CHCHD10	https://raresource.nih.gov/literature/disease/0017794	0017794	616209	457050	C4015513		coiled-coil-helix-coiled-coil-helix domain containing 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant mitochondrial myopathy with exercise intolerance"	11
Predisposition to invasive fungal disease due to CARD9 deficiency	candidiasis, familial, 2, autosomal recessive//candidiasis, familial, type 2//card9 immunodeficiency//imd103//immunodeficiency 103, susceptibility to fungal infections//invasive candidiasis, deep dermatophytosis syndrome//invasive candidiasis-deep dermatophytosis syndrome//predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency	CARD9	CARD9	https://raresource.nih.gov/literature/disease/0017795	0017795	212050	457088	C1859353		caspase recruitment domain family member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Predisposition to invasive fungal disease due to CARD9 deficiency"	1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	coenzyme q10 deficiency, primary, 7//coenzyme q10 deficiency, primary, type 7//coenzyme q4-related neonatal encephalomyopathy//coq4-related neonatal encephalomyopathy	COQ4	COQ4	https://raresource.nih.gov/literature/disease/0017796	0017796	616276	457185	C5568562		coenzyme Q4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"	1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	arboleda tham syndrome//arboleda-tham syndrome//arths//autosomal dominant intellectual disability 32//autosomal dominant mental retardation 32//intellectual disability, autosomal dominant type 32//kat6a syndrome//mental retardation, autosomal dominant 32//mental retardation, autosomal dominant type 32//mrd32	KAT6A	KAT6A	https://raresource.nih.gov/literature/disease/0017797	0017797	616268	457193	C4225396		lysine acetyltransferase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	31
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	intellectual developmental disorder, autosomal recessive 48//intellectual disability, autosomal recessive type 48//mental retardation, autosomal recessive type 48//mrt48	SLC6A17	SLC6A17	https://raresource.nih.gov/literature/disease/0017798	0017798	616269	457212	C4225395		solute carrier family 6 member 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	None
Combined oxidative phosphorylation deficiency 34	coxpd34//syndromic sensorineural deafness due to combined oxidative phosphorylation defect//syndromic sensorineural deafness due to coxpd//syndromic sensorineural deafness due to coxpd (combined oxidative phosphorylation defect)//syndromic sensorineural hearing loss due to coxpd//syndromic sensorineural hearing loss due to coxpd (combined oxidative phosphorylation defect)	MRPS7	MRPS7	https://raresource.nih.gov/literature/disease/0017799	0017799	617872	457223	C4693450		mitochondrial ribosomal protein S7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 34"	None
X-linked intellectual disability-short stature-overweight syndrome	intellectual developmental disorder, x-linked 12//intellectual developmental disorder, x-linked 12, x-linked recessive//intellectual developmental disorder, x-linked, syndromic, kumar type//intellectual disability, x-linked type 12//mental retardation, x-linked 35//mental retardation, x-linked type 12//mrxsk	THOC2	THOC2	https://raresource.nih.gov/literature/disease/0017800	0017800	300957	457240	C0796218		THO complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-short stature-overweight syndrome"	None
Progressive myoclonic epilepsy type 9	epilepsy, progressive myoclonic, type 9//epm9//lmnb2 progressive myoclonic epilepsy//pme (progressive myoclonic epilepsy) type 9//pme type 9//progressive myoclonic epilepsy caused by mutation in lmnb2//progressive myoclonic epilepsy due to lmnb2 (lamin b2) deficiency//progressive myoclonic epilepsy due to lmnb2 deficiency//progressive myoclonus epilepsy type 9	LMNB2	LMNB2	https://raresource.nih.gov/literature/disease/0017801	0017801	616540	457265	C4225289		lamin B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 9"	None
Hogue-Janssens syndrome 1	autosomal dominant intellectual disability 35//autosomal dominant mental retardation 35//houge-janssens syndrome 1//intellectual developmental disorder, autosomal dominant 35//intellectual disability, autosomal dominant type 35//intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome//mental retardation, autosomal dominant type 35//mrd35	PPP2R5D	PPP2R5D	https://raresource.nih.gov/literature/disease/0017802	0017802	616355	457279	C5779996		protein phosphatase 2 regulatory subunit B'delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hogue-Janssens syndrome 1"	1
Houge-Janssens syndrome 2	autosomal dominant intellectual disability 36//autosomal dominant mental retardation 36//intellectual developmental disorder, autosomal dominant 36//intellectual disability, autosomal dominant type 36//mental retardation, autosomal dominant type 36//microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome//microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome//mrd36	PPP2R1A	PPP2R1A	https://raresource.nih.gov/literature/disease/0017803	0017803	616362	457284	C4225352		protein phosphatase 2 scaffold subunit Aalpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Houge-Janssens syndrome 2"	1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome//microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome//nedhsb//neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	AFG2A	AFG2A	https://raresource.nih.gov/literature/disease/0017804	0017804	616577	457351	C4225276		AFG2 AAA ATPase homolog A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	None
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		HERC1	HERC1	https://raresource.nih.gov/literature/disease/0017805	0017805		457359	C5681123		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"	None
Developmental and epileptic encephalopathy, 35	dee35//eiee35//epileptic encephalopathy, early infantile, 35//epileptic encephalopathy, early infantile, type 35//inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement//itpa-related encephalopathy//itpa-related lethal infantile neurological disorder with cataract and cardiac involvement//martsolf-like syndrome	ITPA	ITPA	https://raresource.nih.gov/literature/disease/0017806	0017806	616647	457375	C4225256		inosine triphosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 35"	5
Complex lethal osteochondrodysplasia	complex lethal osteochondrodysplasia symoens barnes gistelinck type//complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type//osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type	TAPT1	TAPT1	https://raresource.nih.gov/literature/disease/0017807	0017807	616897	457378	C4225162		transmembrane anterior posterior transformation 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complex lethal osteochondrodysplasia"	None
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	semdfa//spondyloepimetaphyseal dysplasia, faden-alkuraya type//spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis	RSPRY1	RSPRY1	https://raresource.nih.gov/literature/disease/0017808	0017808	616723	457395	C5568882		ring finger and SPRY domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"	1
Multiple mitochondrial dysfunctions syndrome 4	fatal multiple mitochondrial dysfunctions syndrome caused by mutation in isca2//isca2 fatal multiple mitochondrial dysfunctions syndrome//mmds4//mmds4 - multiple mitochondrial dysfunctions syndrome type 4//multiple mitochondrial dysfunctions syndrome type 4	ISCA2	ISCA2	https://raresource.nih.gov/literature/disease/0017809	0017809	616370	457406	C4225348		iron-sulfur cluster assembly 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 4"	5
Spinocerebellar ataxia type 41	sca41	TRPC3	TRPC3	https://raresource.nih.gov/literature/disease/0017810	0017810	616410	458798	C4225158		transient receptor potential cation channel subfamily C member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 41"	1
Spinocerebellar ataxia type 42	sca42//spinocerebellar ataxia 42	CACNA1G	CACNA1G	https://raresource.nih.gov/literature/disease/0017811	0017811	616795	458803	C4225205		calcium voltage-gated channel subunit alpha1 G	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 42"	13
Spondyloepiphyseal dysplasia, Stanescu type	sed (spondyloepiphyseal dysplasia) stanescu type//sed, stanescu type//sedstn//spondyloepimetaphyseal dysplasia, stanescu type	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0017812	0017812	616583	459051	C4225273		collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia, Stanescu type"	None
Hereditary spastic paraplegia 75	autosomal recessive spastic paraplegia 75//autosomal recessive spastic paraplegia type 75//hereditary spastic paraplegia caused by mutation in mag//hereditary spastic paraplegia type 75//mag hereditary spastic paraplegia//spastic paraplegia 75, autosomal recessive//spg75	MAG	MAG	https://raresource.nih.gov/literature/disease/0017813	0017813	616680	459056	C4225250		myelin associated glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 75"	1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	dedssh1//developmental delay with short stature, dysmorphic features, and sparse hair 1//diphtamide deficiency syndrome//loucks-innes syndrome	DPH1	DPH1	https://raresource.nih.gov/literature/disease/0017814	0017814	616901	459061	CN323360		diphthamide biosynthesis 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay with short stature, dysmorphic facial features, and sparse hair 1"	3
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		RPL10	RPL10	https://raresource.nih.gov/literature/disease/0017815	0017815		459070	C5687848		ribosomal protein L10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"	None
Spastic paraplegia-severe developmental delay-epilepsy syndrome	spastic paraplegia and psychomotor retardation with or without seizures//spastic paraplegia-psychomotor retardation-seizures syndrome//spprs syndrome	HACE1	HACE1	https://raresource.nih.gov/literature/disease/0017816	0017816	616756	464282	C4225215		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia-severe developmental delay-epilepsy syndrome"	None
Short stature-brachydactyly-obesity-global developmental delay syndrome	sbidds//short stature, brachydactyly, impaired intellectual development, and seizures//short stature, brachydactyly, intellectual developmental disability, and seizures	PRMT7	PRMT7	https://raresource.nih.gov/literature/disease/0017817	0017817	617157	464288	C4310689		protein arginine methyltransferase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-brachydactyly-obesity-global developmental delay syndrome"	2
NEK9-related lethal skeletal dysplasia	lccs10//lethal congenital contracture syndrome 10//lethal congenital contracture syndrome type 10//lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome//lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome//nima related kinase 9 lethal skeletal dysplasia	NEK9	NEK9	https://raresource.nih.gov/literature/disease/0017818	0017818	617022	464366	C5568141		NIMA related kinase 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NEK9-related lethal skeletal dysplasia"	None
Dystonia 27	col6a3 dystonic disorder//dystonia type 27//dystonic disorder caused by mutation in col6a3//dyt27//primary dystonia dyt27 type//primary dystonia type 27//primary dystonia, dyt27 type	COL6A3	COL6A3	https://raresource.nih.gov/literature/disease/0017819	0017819	616411	464440	C4225336		collagen type VI alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 27"	2
Infantile liver failure	fever-associated acute infantile liver failure syndrome//infantile liver failure syndrome//liver failure, infantile	NBAS;RINT1	NBAS;RINT1	https://raresource.nih.gov/literature/disease/0017820	0017820		464724	C5681094		NBAS subunit of NRZ tethering complex; RAD50 interactor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile liver failure"	24
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	basel vanagaite smirin yosef syndrome//basel-vanagait-smirin-yosef syndrome//basel-vanagaite-smirin-yosef syndrome	MED25	MED25	https://raresource.nih.gov/literature/disease/0017821	0017821	616449	464738	C4225323		mediator complex subunit 25	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome"	5
Familial cavitary optic disk anomaly	cavitary optic disc anomalies//cavitary optic disc anomaly//familial cavitary optic disc anomaly//familial coda//familial coda (cavitary optic disc anomaly)	MMP19	MMP19	https://raresource.nih.gov/literature/disease/0017822	0017822	611543	464760	C1969063	C566924	matrix metallopeptidase 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cavitary optic disk anomaly"	13
Cocoon syndrome	fetal encasement syndrome//foetal encasement syndrome	CHUK	CHUK	https://raresource.nih.gov/literature/disease/0017823	0017823	613630	465824	C3150891		component of inhibitor of nuclear factor kappa B kinase complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cocoon syndrome"	15
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	birk-flusser syndrome//ccafca//corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia//severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	FRMD4A	FRMD4A	https://raresource.nih.gov/literature/disease/0017824	0017824	616819	466688	C4225193		FERM domain containing 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"	None
TMEM199-CDG	carbohydrate deficient glycoprotein syndrome type iip//cdg (congenital disorder of glycosylation) syndrome type iip//cdg iip//cdg syndrome type iip//cdg-iip//cdg2p//congenital disorder of glycosylation type 2p//congenital disorder of glycosylation type iip//congenital disorder of glycosylation, type iip//tmem199 congenital disorder of glycosylation//tmem199-cdg - transmembrane protein 199 congenital disorder of glycosylation//transmembrane protein 199 congenital disorder of glycosylation	VMA12	VMA12	https://raresource.nih.gov/literature/disease/0017825	0017825	616829	466703	C4225190		vacuolar ATPase assembly factor VMA12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TMEM199-CDG"	2
Patterned macular dystrophy 3	macular dystrophy, patterned, 3//macular dystrophy, patterned, type 3//mapkapk3 patterned macular dystrophy//martinique crinkled retinal pigment epitheliopathy//mcrpe//mcrpe - martinique crinkled retinal pigment epitheliopathy//mdpt3//patterned macular dystrophy caused by mutation in mapkapk3//patterned macular dystrophy type 3	MAPKAPK3	MAPKAPK3	https://raresource.nih.gov/literature/disease/0017826	0017826	617111	466718	C4310713		MAPK activated protein kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Patterned macular dystrophy 3"	6
Hereditary spastic paraplegia 77	autosomal recessive spastic paraplegia 77//autosomal recessive spastic paraplegia type 77//fars2 hereditary spastic paraplegia//hereditary spastic paraplegia caused by mutation in fars2//hereditary spastic paraplegia type 77//spastic paraplegia 77, autosomal recessive//spg77	FARS2	FARS2	https://raresource.nih.gov/literature/disease/0017827	0017827	617046	466722	C5569007		phenylalanyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 77"	None
Charcot-Marie-Tooth disease axonal type 2Z	autosomal dominant axonal charcot-marie-tooth disease type 2z//autosomal dominant charcot-marie-tooth disease type 2 due to morc2 (morc family cw-type zinc finger 2) mutation//autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation//autosomal dominant charcot-marie-tooth disease type 2z//charcot-marie-tooth disease caused by mutation in morc2//charcot-marie-tooth disease, axonal, autosomal dominant, type 2z//charcot-marie-tooth neuropathy type 2z//charcot-marie-tooth neuropathy, type 2z//cmt2z//morc2 charcot-marie-tooth disease	MORC2	MORC2	https://raresource.nih.gov/literature/disease/0017829	0017829	616688	466768	C5569025		MORC family CW-type zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2Z"	10
Charcot-Marie-Tooth disease axonal type 2X	arcmt2x//autosomal recessive axonal charcot-marie-tooth disease type 2x//autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation//autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation//autosomal recessive charcot-marie-tooth disease type 2x//charcot-marie-tooth disease caused by mutation in spg11//charcot-marie-tooth disease, axonal, autosomal recessive, type 2x//charcot-marie-tooth neuropathy type 2x//charcot-marie-tooth neuropathy, type 2x//cmt2x//spg11 charcot-marie-tooth disease	SPG11	SPG11	https://raresource.nih.gov/literature/disease/0017830	0017830	616668	466775	C5569024		SPG11 vesicle trafficking associated, spatacsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2X"	None
Combined oxidative phosphorylation deficiency 28	combined oxidative phosphorylation defect type 28//combined oxidative phosphorylation deficiency caused by mutation in slc25a26//combined oxidative phosphorylation deficiency type 28//coxpd28//coxpd28 - combined oxidative phosphorylation defect type 28//neonatal severe cardiopulmonary failure due to mitochondrial methylation defect//slc25a26 combined oxidative phosphorylation deficiency	SLC25A26	SLC25A26	https://raresource.nih.gov/literature/disease/0017831	0017831	616794	466784	C5569081		solute carrier family 25 member 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 28"	2
Syndromic X-linked intellectual disability 34	intellectual developmental disorder, x-linked syndromic 34//intellectual disability, x-linked, syndromic 34//intellectual disability, x-linked, syndromic type 34//macrocephaly-intellectual disability-left ventricular non compaction syndrome//mental retardation, x-linked, syndromic 34//mental retardation, x-linked, syndromic type 34//mental retardation, x-linked, syndromic, mircsof-langouet type//mrxs34//mrxsml//nono x-linked syndromic intellectual disability//syndromic x-linked intellectual disability mircsof-langouet type//syndromic x-linked intellectual disability type 34//syndromic x-linked mental retardation mircsof-langouet type//x-linked syndromic intellectual disability caused by mutation in nono	NONO	NONO	https://raresource.nih.gov/literature/disease/0017832	0017832	300967	466791	C4225417		non-POU domain containing octamer binding	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability 34"	1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	autosomal recessive spinocerebellar ataxia 21 with hepatopathy//autosomal recessive spinocerebellar ataxia type 21//calfan syndrome//cholestasis, low ggt, acute liver failure, and neurodegeneration syndrome//scar21//spinocerebellar ataxia, autosomal recessive 21//spinocerebellar ataxia, autosomal recessive 21, with hepatopathy//spinocerebellar ataxia, autosomal recessive type 21	SCYL1	SCYL1	https://raresource.nih.gov/literature/disease/0017833	0017833	616719	466794	C5569084		SCY1 like pseudokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"	12
Autosomal recessive limb-girdle muscular dystrophy type 2W	autosomal recessive limb-girdle muscular dystrophy caused by mutation in lims2//lgmd2w//lim zinc finger domain containing 2-related limb girdle muscular dystrophy//limb girdle muscular dystrophy type 2w//lims2 autosomal recessive limb-girdle muscular dystrophy//lims2-related limb girdle muscular dystrophy//mdrcmtt//muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue//muscular dystrophy, limb-girdle, type 2w	LIMS2	LIMS2	https://raresource.nih.gov/literature/disease/0017834	0017834	616827		C4225192		LIM zinc finger domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2W"	None
Seizures-scoliosis-macrocephaly syndrome	seizures, scoliosis, and macrocephaly syndrome//seizures, scoliosis, and macrocephaly/microcephaly syndrome//ssm (seizures, scoliosis, macrocephaly) syndrome//ssm syndrome//ssms	EXT2	EXT2	https://raresource.nih.gov/literature/disease/0017836	0017836	616682	466926	C4225248		exostosin glycosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures-scoliosis-macrocephaly syndrome"	51
Hypomyelinating leukodystrophy 12	hld12//hypomyelinating leukodystrophy type 12//leukodystrophy caused by mutation in vps11//leukodystrophy, hypomyelinating, 12//leukodystrophy, hypomyelinating, type 12//vps11 leukodystrophy//vps11-related autosomal recessive hypomyelinating leukodystrophy//vps11-related autosomal recessive hypomyelinating leukoencephalopathy	VPS11	VPS11	https://raresource.nih.gov/literature/disease/0017837	0017837	616683	466934	C4225247		VPS11 core subunit of CORVET and HOPS complexes	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 12"	None
DeSanto-Shinawi syndrome due to WAC point mutation	dessh//developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities//facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation	WAC	WAC	https://raresource.nih.gov/literature/disease/0017839	0017839		466950	C5681129		WW domain containing adaptor with coiled-coil	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DeSanto-Shinawi syndrome due to WAC point mutation"	7
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	hypotonia, infantile, with psychomotor retardation//ihpmr	CCDC174	CCDC174	https://raresource.nih.gov/literature/disease/0017840	0017840	616816	467176	C4225196		coiled-coil domain containing 174	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"	None
Microcephalic primordial dwarfism due to RTTN deficiency	microcephalic cortical malformations, short stature due to rotatin deficiency//microcephalic cortical malformations, short stature due to rttn (rotatin) deficiency//microcephalic cortical malformations, short stature due to rttn deficiency//microcephalic cortical malformations-short stature due to rttn deficiency//microcephaly, short stature, and polymicrogyria//microcephaly, short stature, and polymicrogyria with or without seizures//mssp	RTTN	RTTN	https://raresource.nih.gov/literature/disease/0017841	0017841	614833	468631	C3553831		rotatin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic primordial dwarfism due to RTTN deficiency"	17
Hereditary spastic paraplegia 74	autosomal recessive spastic paraplegia 74//autosomal recessive spastic paraplegia type 74//hereditary spastic paraplegia caused by mutation in iba57//hereditary spastic paraplegia type 74//iba57 hereditary spastic paraplegia//spastic paraplegia 74, autosomal recessive//spg74	IBA57	IBA57	https://raresource.nih.gov/literature/disease/0017842	0017842	616451	468661	C5568837		iron-sulfur cluster assembly factor IBA57	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 74"	1
Isolated anhidrosis with normal sweat glands	anhidrosis caused by mutation in itpr2//dann-epstein-sohar syndrome//isolated generalized anhidrosis with normal sweat glands//itpr2 anhidrosis	ITPR2	ITPR2	https://raresource.nih.gov/literature/disease/0017843	0017843	106190	468666	C5568836		inositol 1,4,5-trisphosphate receptor type 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated anhidrosis with normal sweat glands"	None
Colobomatous macrophthalmia-microcornea syndrome	colobomatous macrophthalmia with microcornea syndrome//macom (macrophthalmia colobomatous with microcornea) syndrome//macom syndrome//macrophthalmia, colobomatous, with microcornea	CRIM1	CRIM1	https://raresource.nih.gov/literature/disease/0017844	0017844	602499	468672	C1865286	C566533	cysteine rich transmembrane BMP regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colobomatous macrophthalmia-microcornea syndrome"	3
CCDC115-CDG	carbohydrate deficient glycoprotein syndrome type iio//ccdc115 congenital disorder of glycosylation//ccdc115-cdg - coiled-coil domain containing 115 congenital disorder of glycosylation//cdg iio//cdg syndrome type iio//cdg-iio//cdg2o//coiled-coil domain containing 115 congenital disorder of glycosylation//congenital disorder of glycosylation type 2o//congenital disorder of glycosylation type iio//congenital disorder of glycosylation, type iio	VMA22	VMA22	https://raresource.nih.gov/literature/disease/0017845	0017845	616828	468684	C4225191		vacuolar ATPase assembly factor VMA22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CCDC115-CDG"	1
SLC39A8-CDG	carbohydrate deficient glycoprotein syndrome type iin//cdg iin//cdg syndrome type iin//cdg-iin//cdg2n//congenital disorder of glycosylation type 2n//congenital disorder of glycosylation type iin//congenital disorder of glycosylation, type iin//slc39a8 congenital disorder of glycosylation//slc39a8 deficiency//slc39a8-cdg - solute carrier family 39 member 8 congenital disorder of glycosylation//solute carrier family 39 member 8 congenital disorder of glycosylation	SLC39A8	SLC39A8	https://raresource.nih.gov/literature/disease/0017846	0017846	616721	468699	C4225234		solute carrier family 39 member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SLC39A8-CDG"	10
Autosomal recessive limb-girdle muscular dystrophy type 2X	autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome//autosomal recessive limb-girdle muscular dystrophy caused by mutation in bves//autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome//blood vessel epicardial substance related limb girdle muscular dystrophy//bves (blood vessel epicardial substance) related limb girdle muscular dystrophy//bves autosomal recessive limb-girdle muscular dystrophy//bves-related lgmd//bves-related limb girdle muscular dystrophy//bves-related limb-girdle muscular dystrophy//lgmd type 2x//lgmd2x//lgmdr25//limb girdle muscular dystrophy 2x//limb-girdle muscular dystrophy 2x//muscular dystrophy, limb-girdle, autosomal recessive 25//muscular dystrophy, limb-girdle, type 2x	POPDC1	POPDC1	https://raresource.nih.gov/literature/disease/0017847	0017847	616812	476084	C5568138		popeye domain cAMP effector 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2X"	4
Autoinflammatory syndrome, familial, Behcet-like 1	aifbl1//behçet-like disease due to ha20//behçet-like disease due to haploinsufficiency of a20//hereditary paediatric behçet-like disease//hereditary pediatric behçet-like disease	TNFAIP3	TNFAIP3	https://raresource.nih.gov/literature/disease/0017848	0017848	616744	674762	C4225218		TNF alpha induced protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory syndrome, familial, Behcet-like 1"	None
TFRC-related combined immunodeficiency	cid due to tfrc deficiency//combined immunodeficiency due to tfrc deficiency//combined immunodeficiency due to transferrin receptor deficiency//imd46//immunodeficiency 46//immunodeficiency type 46//tfrc (transferrin receptor) related combined immunodeficiency	TFRC	TFRC	https://raresource.nih.gov/literature/disease/0017849	0017849	616740	476113	C5568133		transferrin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TFRC-related combined immunodeficiency"	None
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	autosomal dominant intellectual disability 44//autosomal dominant mental retardation 44//intellectual developmental disorder, autosomal dominant 44, with microcephaly//mebas//mercer-ba syndrome//mrd44//trio-related intellectual disability	TRIO	TRIO	https://raresource.nih.gov/literature/disease/0017850	0017850	617061	476126	C4310740		trio Rho guanine nucleotide exchange factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"	1
Charcot-Marie-Tooth disease, demyelinating, type 1G	cmt1g//pmp2-related charcot-marie-tooth disease type 1//pmp2-related charcot-marie-tooth neuropathy type 1//pmp2-related cmt1//pmp2-related hereditary motor and sensory neuropathy type 1	PMP2	PMP2	https://raresource.nih.gov/literature/disease/0017851	0017851	618279	476394	C4748940		peripheral myelin protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, demyelinating, type 1G"	None
IL21-related infantile inflammatory bowel disease	common variable immunodeficiency 11//il21 deficiency//il21-related infantile ibd//immunodeficiency, common variable, type 11//interleukin 21 related infantile inflammatory bowel disease	IL21	IL21	https://raresource.nih.gov/literature/disease/0017852	0017852	615767	477661	C5567788		interleukin 21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IL21-related infantile inflammatory bowel disease"	None
Glutamate pyruvate transaminase 2 deficiency	gpt2 deficiency//mental retardation, autosomal recessive 49//mental retardation, autosomal recessive type 49//mrt49//nedspm//neurodevelopmental disorder with microcephaly and spastic paraplegia//postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	GPT2	GPT2	https://raresource.nih.gov/literature/disease/0017853	0017853	616281	477673	C4225388		glutamic--pyruvic transaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutamate pyruvate transaminase 2 deficiency"	3
Combined oxidative phosphorylation defect type 26	combined oxidative phosphorylation deficiency 26//combined oxidative phosphorylation deficiency caused by mutation in trmt5//combined oxidative phosphorylation deficiency type 26//coxpd26//coxpd26 - combined oxidative phosphorylation defect type 26//peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay//pnsed//trmt5 combined oxidative phosphorylation deficiency	TRMT5	TRMT5	https://raresource.nih.gov/literature/disease/0017854	0017854	616539	477684	C5567741		tRNA methyltransferase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 26"	1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	dementia, hereditary multi-infarct, swedish type//padmal//padmal - pontine autosomal dominant microangiopathy with leukoencephalopathy//pontine autosomal dominant microangiopathy with leukoencephalopathy	COL4A1	COL4A1	https://raresource.nih.gov/literature/disease/0017855	0017855	618564	477749	C5231411		collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microangiopathy and leukoencephalopathy, pontine, autosomal dominant"	10
Combined oxidative phosphorylation defect type 27	cars2 combined oxidative phosphorylation deficiency//combined oxidative phosphorylation deficiency 27//combined oxidative phosphorylation deficiency caused by mutation in cars2//combined oxidative phosphorylation deficiency type 27//coxpd27//coxpd27 - combined oxidative phosphorylation defect type 27	CARS2	CARS2	https://raresource.nih.gov/literature/disease/0017856	0017856	616672	477774	C5567608		cysteinyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 27"	1
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	deficiency of phospholipase a2, group iva//gastrointestinal ulceration, recurrent, with dysfunctional platelets//gurdp//pla2g4a (phospholipase a2 group iva) related platelet dysfunction//pla2g4a-related platelet dysfunction//platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency	PLA2G4A	PLA2G4A	https://raresource.nih.gov/literature/disease/0017857	0017857	618372	477787	C5567651		phospholipase A2 group IVA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	None
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	scbms//seizures, cortical blindness, and microcephaly syndrome//seizures, cortical blindness, microcephaly syndrome	DIAPH1	DIAPH1	https://raresource.nih.gov/literature/disease/0017858	0017858	616632	477814	C5567650		diaphanous related formin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"	6
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	kosaki overgrowth syndrome//skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration//skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome	PDGFRB	PDGFRB	https://raresource.nih.gov/literature/disease/0017860	0017860	616592	477831	C4225270		platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"	18
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	autosomal recessive mendelian susceptibility to mycobacterial disease due to complete rar related orphan receptor c receptor mutation//autosomal recessive mendelian susceptibility to mycobacterial disease due to complete rorgamma receptor mutation//autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in rorc//autosomal recessive msmd (mendelian susceptibility to mycobacterial disease) due to complete rorgamma receptor mutation//autosomal recessive msmd due to complete rorgamma receptor defiency//autosomal recessive primary immunodeficiency due to rorc mutation//imd42//immunodeficiency 42//immunodeficiency type 42//rorc autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	RORC	RORC	https://raresource.nih.gov/literature/disease/0017861	0017861	616622	477857	C5567647		RAR related orphan receptor C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"	None
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	cleft palate, psychomotor retardation, and distinctive facial features//palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome	KDM1A	KDM1A	https://raresource.nih.gov/literature/disease/0017862	0017862	616728	477993	C4225229		lysine demethylase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"	None
Combined oxidative phosphorylation deficiency 29	combined oxidative phosphorylation defect type 29//combined oxidative phosphorylation deficiency 29; coxpd29//combined oxidative phosphorylation deficiency caused by mutation in txn2//combined oxidative phosphorylation deficiency type 29//coxpd29//coxpd29 - combined oxidative phosphorylation defect type 29//txn2 combined oxidative phosphorylation deficiency	TXN2	TXN2	https://raresource.nih.gov/literature/disease/0017863	0017863	616811	478029	C5567607		thioredoxin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 29"	None
Combined oxidative phosphorylation defect type 30	combined oxidative phosphorylation deficiency 30//combined oxidative phosphorylation deficiency caused by mutation in trmt10c//combined oxidative phosphorylation deficiency type 30//coxpd30//coxpd30 - combined oxidative phosphorylation defect type 30//trmt10c combined oxidative phosphorylation deficiency	TRMT10C	TRMT10C	https://raresource.nih.gov/literature/disease/0017864	0017864	616974	478042	C5567605		tRNA methyltransferase 10C, mitochondrial RNase P subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation defect type 30"	1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	combined oxidative phosphorylation deficiency 31//combined oxidative phosphorylation deficiency caused by mutation in mipep//combined oxidative phosphorylation deficiency type 31//coxpd31//mipep combined oxidative phosphorylation deficiency	MIPEP	MIPEP	https://raresource.nih.gov/literature/disease/0017865	0017865	617228	478049	C4310661		mitochondrial intermediate peptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"	1
Congenital insensitivity to pain-hypohidrosis syndrome	cip-hypohidrosis syndrome//hereditary sensory and autonomic neuropathy type 8//hereditary sensory and autonomic neuropathy type viii//hsan viii//hsan8//hsan8 - hereditary sensory and autonomic neuropathy type 8//neuropathy, hereditary sensory and autonomic, type viii	PRDM12	PRDM12	https://raresource.nih.gov/literature/disease/0017866	0017866	616488	478664	C4225308		PR/SET domain 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital insensitivity to pain-hypohidrosis syndrome"	4
Cholestasis, progressive familial intrahepatic, 5	cholestasis, progressive familial intrahepatic, 5; pfic5//cholestasis, progressive familial intrahepatic, type 5//nr1h4 deficiency//nr1h4 progressive familial intrahepatic cholestasis//pfic5//progressive familial intrahepatic cholestasis caused by mutation in nr1h4//progressive familial intrahepatic cholestasis type 5	NR1H4	NR1H4	https://raresource.nih.gov/literature/disease/0017867	0017867	617049	480476	C4310747		nuclear receptor subfamily 1 group H member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 5"	5
Familial adenomatous polyposis 4	familial adenomatous polyposis type 4//fap4//msh3-related afap//msh3-related attenuated familial adenomatous polyposis//msh3-related attenuated familial polyposis coli//msh3-related attenuated fap	MSH3	MSH3	https://raresource.nih.gov/literature/disease/0017868	0017868	617100	480536	C4310719		mutS homolog 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial adenomatous polyposis 4"	None
Autosomal recessive limb-girdle muscular dystrophy type 2R1	autosomal recessive limb girdle muscular dystrophy type 2z//autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1//autosomal recessive limb-girdle muscular dystrophy type 2z//lgmd type 2z//lgmd2z//lgmdr21//limb girdle muscular dystrophy type 2z//limb-girdle muscular dystrophy type 2z//muscular dystrophy, limb-girdle, autosomal recessive 21//muscular dystrophy, limb-girdle, type 2z//poglut1 autosomal recessive limb-girdle muscular dystrophy//poglut1-related lgmd r21//poglut1-related limb girdle muscular dystrophy r21//poglut1-related limb-girdle muscular dystrophy r21//protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21	POGLUT1	POGLUT1	https://raresource.nih.gov/literature/disease/0017869	0017869	617232	480682	C4310660		protein O-glucosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive limb-girdle muscular dystrophy type 2R1"	2
Thrombocytopenia 6	hereditary thrombocytopenia with early-onset myelofibrosis//thc6//thrombocytopenia type 6//thrombocytopenia, autosomal dominant, 6	SRC	SRC	https://raresource.nih.gov/literature/disease/0017870	0017870	616937	480851	C4310789		SRC proto-oncogene, non-receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 6"	None
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		EMC1	EMC1	https://raresource.nih.gov/literature/disease/0017871	0017871		480898	C5567522		ER membrane protein complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"	None
Familial chilblain lupus	chbl//familial chilblain lupus erythematosus//hereditary chilblain lupus	STING1;SAMHD1;TREX1	STING1;SAMHD1;TREX1	https://raresource.nih.gov/literature/disease/0017874	0017874		481662	C5688224		stimulator of interferon response cGAMP interactor 1; SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1; three prime repair exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial chilblain lupus"	53
Pseudo-TORCH syndrome 2	ptorch2//ubiquitin specific peptidase 18 deficiency//usp18 deficiency	USP18	USP18	https://raresource.nih.gov/literature/disease/0017875	0017875	617397	481665	C4479376		ubiquitin specific peptidase 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo-TORCH syndrome 2"	12
Familial schizencephaly	hereditary schizencephaly	COL4A1	COL4A1	https://raresource.nih.gov/literature/disease/0017876	0017876		481986	C2931870	C538514	collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial schizencephaly"	3
HTRA1-related autosomal dominant cerebral small vessel disease	htra serine peptidase 1-related autosomal dominant cerebral small vessel disease//htra1-related autosomal dominant cerebral angiopathy	HTRA1	HTRA1	https://raresource.nih.gov/literature/disease/0017877	0017877		482077	C5568568		HtrA serine peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HTRA1-related autosomal dominant cerebral small vessel disease"	None
Myopathy, distal, 5	adenylosuccinate synthetase-like 1-related distal myopathy//adssl1 distal myopathy//adssl1-related distal myopathy//distal myopathy caused by mutation in adssl1//mpd5//myopathy, distal, 5; mpd5//myopathy, distal, type 5	ADSS1	ADSS1	https://raresource.nih.gov/literature/disease/0017878	0017878	617030	482601	C5567521		adenylosuccinate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, distal, 5"	None
Intellectual disability, X-linked 49	chloride voltage-gated channel 4-related x-linked intellectual disability syndrome//clcn4-related x-linked intellectual disability syndrome//intellectual disability, x-linked 15//mental retardation, x-linked 15//mrx49//mrxsrc//raynaud claes syndrome//raynaud-claes syndrome//raynaud-claes syndrome, x-linked dominant	CLCN4	CLCN4	https://raresource.nih.gov/literature/disease/0017880	0017880	300114	485350	C0796221		chloride voltage-gated channel 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 49"	6
Encephalopathy due to defective mitochondrial and peroxisomal fission 2	empf2//encephalopathy due to defective mitochondrial and peroxisomal fission type 2//leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome//leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome//mff-associated encephalopathy due to peroxisomal and mitochondrial fission defect//mff-related encephalopathy due to mitochondrial and peroxisomal fission defect	MFF	MFF	https://raresource.nih.gov/literature/disease/0017881	0017881	617086	485421	C4310726		mitochondrial fission factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalopathy due to defective mitochondrial and peroxisomal fission 2"	2
Prenatal-onset spinal muscular atrophy with congenital bone fractures	smabf//spinal muscular atrophy with congenital bone fractures	TRIP4;ASCC1	TRIP4;ASCC1	https://raresource.nih.gov/literature/disease/0017882	0017882		486811	C5567518		thyroid hormone receptor interactor 4; activating signal cointegrator 1 complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prenatal-onset spinal muscular atrophy with congenital bone fractures"	None
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	congenital muscular dystrophy davignon chauveau type//congenital muscular dystrophy, davignon-chauveau type//mdcdc//muscular dystrophy, congenital, davignon-chauveau type	TRIP4	TRIP4	https://raresource.nih.gov/literature/disease/0017883	0017883	617066	486815	C4310736		thyroid hormone receptor interactor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"	None
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	macrothrombocytopenia and mental retardation syndrome//takenouchi kosaki syndrome//takenouchi-kosaki syndrome	CDC42	CDC42	https://raresource.nih.gov/literature/disease/0017884	0017884	616737	487796	C4225222		cell division cycle 42	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	22
Pierpont syndrome	plantar lipomatosis, facial dysmorphism, developmental delay syndrome//plantar lipomatosis-facial dysmorphism-developmental delay syndrome//plantar lipomatosis-unusual facies-developmental delay syndrome//prpts	TBL1XR1	TBL1XR1	https://raresource.nih.gov/literature/disease/0017885	0017885	602342	487825	C1865644	C566559	TBL1X/Y related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pierpont syndrome"	24
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	mccpd//microcephaly, congenital cataract, and psoriasiform dermatitis//sc4mol deficiency//smo (sterol-c4-methyl oxidase) deficiency//smo deficiency//sterol-c4-methyl oxidase deficiency	MSMO1	MSMO1	https://raresource.nih.gov/literature/disease/0017886	0017886	616834	488168	C5567510		methylsterol monooxygenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"	6
Female infertility due to oocyte meiotic arrest		WEE2;PANX1;PATL2;TUBB8;TLE6	WEE2;PANX1;PATL2;TUBB8;TLE6	https://raresource.nih.gov/literature/disease/0017887	0017887		488191	C5567489		WEE2 oocyte meiosis inhibiting kinase; pannexin 1; PAT1 homolog 2; tubulin beta 8 class VIII; TLE family member 6, subcortical maternal complex member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Female infertility due to oocyte meiotic arrest"	None
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	retinal dystrophy and iris coloboma with or without cataract//retinal dystrophy and iris coloboma with or without congenital cataract	MIR204	MIR204	https://raresource.nih.gov/literature/disease/0017888	0017888	616722	488197	C4225493		microRNA 204	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"	None
Split-foot malformation-mesoaxial polydactyly syndrome	sfmmp//sfmmp (split-foot malformation, mesoaxial polydactyly) syndrome//split-foot malformation with mesoaxial polydactyly//split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome//split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome	MAP3K20	MAP3K20	https://raresource.nih.gov/literature/disease/0017889	0017889	616890	488232	C5567487		mitogen-activated protein kinase kinase kinase 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Split-foot malformation-mesoaxial polydactyly syndrome"	None
Autosomal dominant Charcot-Marie-Tooth disease type 2W	autosomal dominant axonal charcot-marie-tooth disease type 2w//autosomal dominant charcot-marie-tooth disease type 2 due to hars (histidyl-trna synthetase 1) mutation//autosomal dominant charcot-marie-tooth disease type 2 due to hars mutation//charcot-marie-tooth disease type 2 caused by mutation in hars//charcot-marie-tooth disease, axonal, autosomal dominant, type 2w//charcot-marie-tooth disease, axonal, type 2w//charcot-marie-tooth neuropathy type 2w//charcot-marie-tooth neuropathy, type 2w//cmt2w//hars charcot-marie-tooth disease type 2	HARS1	HARS1	https://raresource.nih.gov/literature/disease/0017891	0017891	616625	488333	C5567486		histidyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2W"	6
Autosomal recessive spastic paraplegia type 76	autosomal recessive complex spastic paraplegia caused by mutation in capn1//autosomal recessive spastic paraplegia 76//capn1 autosomal recessive complex spastic paraplegia//hereditary spastic paraplegia type 76//spastic paraplegia 76, autosomal recessive//spg76	CAPN1	CAPN1	https://raresource.nih.gov/literature/disease/0017892	0017892	616907	488594	C5567483		calpain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 76"	3
Transketolase deficiency	short stature, developmental delay, and congenital heart defects//short stature, developmental delay, congenital heart defect syndrome//short stature-developmental delay-congenital heart defect syndrome//tkt (transketolase) deficiency//tkt deficiency	TKT	TKT	https://raresource.nih.gov/literature/disease/0017894	0017894	617044	488618	C5700245		transketolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transketolase deficiency"	12
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	intellectual disability, autosomal recessive 55//intellectual disability, autosomal recessive type 55//mental retardation, autosomal recessive 55//mental retardation, autosomal recessive type 55//mrt55//nedmigs//neurodevelopmental disorder with microcephaly and gray sclerae//neurodevelopmental disorder with microcephaly and grey sclerae	PUS3	PUS3	https://raresource.nih.gov/literature/disease/0017895	0017895	617051	488627	C4310745		pseudouridine synthase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"	None
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	hypotonia, infantile, with psychomotor retardation and characteristic facies type 3//ihprf3//tbc1 domain containing kinase-related intellectual disability syndrome//tbck-related intellectual disability syndrome	TBCK	TBCK	https://raresource.nih.gov/literature/disease/0017896	0017896	616900	488632	C5567480		TBC1 domain containing kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	2
Intellectual disability, autosomal recessive 53	congenital disorder of glycosylation due to pigg deficiency//early-onset epilepsy-intellectual disability-brain anomalies syndrome//glycosylphosphatidylinositol biosynthesis defect 13//gpibd13//intellectual developmental disorder, autosomal recessive 53//intellectual disability, autosomal recessive type 53//mental retardation, autosomal recessive 53//mental retardation, autosomal recessive type 53//mrt53//nedhsca//neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy//pigg-cdg	PIGG	PIGG	https://raresource.nih.gov/literature/disease/0017897	0017897	616917	488635	C4310794		phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 53"	None
TELO2-related intellectual disability-neurodevelopmental disorder	telomere maintenance 2-related intellectual disability, neurodevelopmental disorder//you hoover fong syndrome//you-hoover-fong syndrome	TELO2	TELO2	https://raresource.nih.gov/literature/disease/0017898	0017898	616954	488642	C4310778		telomere maintenance 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TELO2-related intellectual disability-neurodevelopmental disorder"	9
DDX41-related hematologic malignancy predisposition syndrome	ddx41 hereditary neoplastic syndrome//hereditary neoplastic syndrome caused by mutation in ddx41//mplpf//myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	DDX41	DDX41	https://raresource.nih.gov/literature/disease/0017899	0017899	616871	488647	C4225174		DEAD-box helicase 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DDX41-related hematologic malignancy predisposition syndrome"	None
Distal myopathy, Tateyama type	cav3-related distal myopathy//caveolin 3 related distal myopathy//mpdt	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0017900	0017900	614321	488650	C3280443		caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal myopathy, Tateyama type"	1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	nedbeh//neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; nedbeh//rere-related neurodevelopmental syndrome	RERE	RERE	https://raresource.nih.gov/literature/disease/0017902	0017902	616975	494344	C4310772		arginine-glutamic acid dipeptide repeats	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	5
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome//short stature, hearing loss, retinitis pigmentosa, and distinctive facies	EXOSC2	EXOSC2	https://raresource.nih.gov/literature/disease/0017903	0017903	617763	494439	C4540367		exosome component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	None
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	diaph1-related sensorineural deafness, thrombocytopenia syndrome//diaph1-related sensorineural deafness-thrombocytopenia syndrome//diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome	DIAPH1	DIAPH1	https://raresource.nih.gov/literature/disease/0017904	0017904		494444	C5567465		diaphanous related formin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"	None
Infantile-onset generalized dyskinesia with orofacial involvement	dyskinesia, limb and orofacial, infantile-onset//infantile-onset orofacial, trunk, limbs dyskinesia//infantile-onset orofacial-trunk-limbs dyskinesia//iolod	PDE10A	PDE10A	https://raresource.nih.gov/literature/disease/0017905	0017905	616921	494526	C5567464		phosphodiesterase 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset generalized dyskinesia with orofacial involvement"	None
Childhood-onset benign chorea with striatal involvement		PDE10A	PDE10A	https://raresource.nih.gov/literature/disease/0017906	0017906		494541	C5567463		phosphodiesterase 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset benign chorea with striatal involvement"	None
Hypopharynx squamous cell carcinoma	epidermoid carcinoma of hypopharynx//epidermoid carcinoma of the hypopharynx//hypopharyngeal epidermoid carcinoma//hypopharyngeal squamous cell carcinoma//hypopharyngeal throat squamous cell cancer//squamous cell carcinoma of hypopharynx//squamous cell carcinoma of the hypopharynx	PTEN;ING1	PTEN;ING1	https://raresource.nih.gov/literature/disease/0017907	0017907		494547	C0280321		phosphatase and tensin homolog; inhibitor of growth family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypopharynx squamous cell carcinoma"	604
Laryngeal squamous cell carcinoma	cancer of the larynx, squamous cell//epidermoid carcinoma of larynx//epidermoid carcinoma of the larynx//laryngeal epidermoid carcinoma//laryngeal throat squamous cell cancer//larynx epidermoid carcinoma//larynx squamous cell carcinoma//primary squamous cell carcinoma of larynx//squamous cell carcinoma of larynx//squamous cell carcinoma of the larynx	PTEN;ING1	PTEN;ING1	https://raresource.nih.gov/literature/disease/0017908	0017908		494550	C0280324		phosphatase and tensin homolog; inhibitor of growth family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laryngeal squamous cell carcinoma"	3244
Charcot-Marie-Tooth disease type 2T	ar-cmt2t//autosomal recessive axonal charcot-marie-tooth disease type 2t//cmt2t	MME	MME	https://raresource.nih.gov/literature/disease/0017909	0017909		495274	CN294759		membrane metalloendopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2T"	3
C11orf73-related autosomal recessive hypomyelinating leukodystrophy	c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy//hypomyelinating leukodystrophy due to hikeshi deficiency	HIKESHI	HIKESHI	https://raresource.nih.gov/literature/disease/0017910	0017910		495844	C5567456		heat shock protein nuclear import factor hikeshi	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C11orf73-related autosomal recessive hypomyelinating leukodystrophy"	None
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum//encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; pebat//pebat	TBCD	TBCD	https://raresource.nih.gov/literature/disease/0017911	0017911	617193	496641	C5567454		tubulin folding cofactor D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	3
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome		KY	KY	https://raresource.nih.gov/literature/disease/0017912	0017912		496686	C5567453		kyphoscoliosis peptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"	None
Even-plus syndrome	epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations//epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome//epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome//even (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome//evpls	HSPA9	HSPA9	https://raresource.nih.gov/literature/disease/0017913	0017913	616854	496751	C4225180		heat shock protein family A (Hsp70) member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Even-plus syndrome"	10
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		TBCE	TBCE	https://raresource.nih.gov/literature/disease/0017914	0017914	617207	496756	C5567451		tubulin folding cofactor E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"	None
Harel-Yoon syndrome	harel-yoon syndrome; hayos//hayos//ocular anomalies, axonal neuropathy, developmental delay syndrome//ocular anomalies-axonal neuropathy-developmental delay syndrome//optic atrophy-peripheral neuropathy-developmental delay syndrome	ATAD3A	ATAD3A	https://raresource.nih.gov/literature/disease/0017915	0017915	617183	496790	C4310677		ATPase family AAA domain containing 3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Harel-Yoon syndrome"	13
MME-related autosomal dominant Charcot Marie Tooth disease type 2	membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2//mme-related autosomal dominant cmt2//mme-related autosomal dominant hereditary motor and sensory neuropathy type 2	MME	MME	https://raresource.nih.gov/literature/disease/0017916	0017916		497757	C5567450		membrane metalloendopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MME-related autosomal dominant Charcot Marie Tooth disease type 2"	None
Spinocerebellar ataxia 43	autosomal dominant cerebellar ataxia caused by mutation in mme//mme autosomal dominant cerebellar ataxia//sca43//spinocerebellar ataxia 43; sca43//spinocerebellar ataxia type 43	MME	MME	https://raresource.nih.gov/literature/disease/0017917	0017917	617018	497764	C4310763		membrane metalloendopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 43"	None
Striatonigral degeneration, childhood-onset	childhood-onset basal ganglia degeneration syndrome//lenk ploski syndrome//lenk-ploski syndrome//sndc//striatonigral degeneration, childhood-onset; sndc	VAC14	VAC14	https://raresource.nih.gov/literature/disease/0017918	0017918	617054	497906	C4310743		VAC14 component of PIKFYVE complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Striatonigral degeneration, childhood-onset"	1
Tall stature-intellectual disability-renal anomalies syndrome	thauvin robinet faivre syndrome//thauvin-robinet-faivre syndrome//trofas	FIBP	FIBP	https://raresource.nih.gov/literature/disease/0017921	0017921	617107	500095	C4310715		FGF1 intracellular binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tall stature-intellectual disability-renal anomalies syndrome"	6
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	hydranencephaly with renal aplasia-dysplasia//march syndrome	CEP55	CEP55	https://raresource.nih.gov/literature/disease/0017922	0017922	236500	500135	C1856053	C565507	centrosomal protein 55	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"	5
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	encephalopathy, progressive, early-onset, with brain atrophy and spasticity	TRAPPC12	TRAPPC12	https://raresource.nih.gov/literature/disease/0017923	0017923	617669	500144	C5567229		trafficking protein particle complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"	None
Intellectual disability, autosomal dominant 48	intellectual developmental disorder, autosomal dominant 48//mental retardation, autosomal dominant 48//microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	RAC1	RAC1	https://raresource.nih.gov/literature/disease/0017924	0017924	617751	500159	C4540321		Rac family small GTPase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 48"	None
SIN3A-related intellectual disability syndrome due to a point mutation	15q24 microdeletion syndrome//sin3a (switch-insensitive 3 transcription regulator family member a)-related intellectual disability syndrome//witkos - witteveen kolk syndrome//witteveen kolk syndrome	SIN3A	SIN3A	https://raresource.nih.gov/literature/disease/0017925	0017925		500166	C4310804		SIN3 transcription regulator family member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SIN3A-related intellectual disability syndrome due to a point mutation"	30
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	deafness, x-linked 7//dfnx7	GPRASP2	GPRASP2	https://raresource.nih.gov/literature/disease/0017926	0017926	301018	500188	C4746975		G protein-coupled receptor associated sorting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"	None
Paranasal sinus squamous cell carcinoma	epidermoid carcinoma of paranasal sinus//epidermoid carcinoma of the paranasal sinus//paranasal sinus epidermoid carcinoma//squamous cell carcinoma of paranasal sinus//squamous cell carcinoma of the nasal cavity and paranasal sinuses//squamous cell carcinoma of the nasal cavity and sinuses//squamous cell carcinoma of the paranasal sinus	ING1;PTEN	ING1;PTEN	https://raresource.nih.gov/literature/disease/0017927	0017927		500464	C0280334		inhibitor of growth family member 1; phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paranasal sinus squamous cell carcinoma"	10
Oropharyngeal squamous cell carcinoma	cancer of oropharynx, squamous cell//epidermoid carcinoma of oropharynx//epidermoid carcinoma of the oropharynx//oropharyngeal epidermoid carcinoma//oropharyngeal throat squamous cell cancer//oropharynx squamous cell carcinoma//primary squamous cell carcinoma of oropharynx//squamous cell carcinoma of oropharynx//squamous cell carcinoma of the oropharynx	PTEN;ING1	PTEN;ING1	https://raresource.nih.gov/literature/disease/0017928	0017928		500478	C0280313		phosphatase and tensin homolog; inhibitor of growth family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oropharyngeal squamous cell carcinoma"	2483
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	necfm//severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	NACC1	NACC1	https://raresource.nih.gov/literature/disease/0017930	0017930	617393	500545	C4479333		nucleus accumbens associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	1
Osteosclerotic metaphyseal dysplasia	osmd	LRRK1	LRRK1	https://raresource.nih.gov/literature/disease/0017931	0017931	615198	500548	C3554665		leucine rich repeat kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteosclerotic metaphyseal dysplasia"	15
Oral cavity squamous cell carcinoma	mouth scc//mouth squamous cell carcinoma//oral cavity scc//oral cavity squamous cell cancer//scc of mouth//scc of oral cavity//scc of the mouth//scc of the oral cavity//squamous cell carcinoma of mouth//squamous cell carcinoma of oral cavity//squamous cell carcinoma of the mouth//squamous cell carcinoma of the oral cavity	ING1;PTEN	ING1;PTEN	https://raresource.nih.gov/literature/disease/0017932	0017932		502363	C0585362		inhibitor of growth family member 1; phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oral cavity squamous cell carcinoma"	1891
Squamous cell carcinoma of lip	lip scc//lip squamous cell carcinoma//scc - squamous cell carcinoma of lip//scc of lip//scc of the lip//squamous cell carcinoma of the lip	ING1;PTEN	ING1;PTEN	https://raresource.nih.gov/literature/disease/0017933	0017933		502366	C0280302		inhibitor of growth family member 1; phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Squamous cell carcinoma of lip"	286
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome//mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome//myopathy, mitochondrial, and ataxia	MSTO1	MSTO1	https://raresource.nih.gov/literature/disease/0017934	0017934	617675	502423	C4540096		misato mitochondrial distribution and morphology regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"	None
Intellectual disability, autosomal dominant 47	intellectual developmental disorder, autosomal dominant 47//mental retardation, autosomal dominant 47//stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	STAG1	STAG1	https://raresource.nih.gov/literature/disease/0017935	0017935	617635	502434	C4539951		STAG1 cohesin complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 47"	1
Alkaline ceramidase 3 deficiency	acer3-related early childhood-onset progressive leukodystrophy//leukodystrophy due to alkaline ceramidase 3 deficiency//leukodystrophy, progressive, early childhood-onset	ACER3	ACER3	https://raresource.nih.gov/literature/disease/0017936	0017936	617762	502444	C4540358		alkaline ceramidase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alkaline ceramidase 3 deficiency"	3
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	cabv (cerebellar ataxia, bilateral vestibulopathy) syndrome//cabv syndrome//canvas//canvas - cerebellar ataxia, neuropathy, vestibular areflexia syndrome//cerebellar ataxia with bilateral vestibulopathy syndrome//cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	RFC1	RFC1	https://raresource.nih.gov/literature/disease/0017937	0017937	614575	504476	C3281223		replication factor C subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"	180
Severe combined immunodeficiency due to LAT deficiency	immunodeficiency 52//scid due to lat deficiency//severe combined immunodeficiency due to lat (linker for activation of t cells) deficiency//severe combined immunodeficiency due to linker for activation of t cells deficiency	LAT	LAT	https://raresource.nih.gov/literature/disease/0017938	0017938	617514	504523	C4479588		linker for activation of T cells	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to LAT deficiency"	None
Combined immunodeficiency due to moesin deficiency	cid due to moesin deficiency//imd50//immunodeficiency 50//immunodeficiency 50, x-linked recessive//immunodeficiency type 50//msn (moesin) related combined immunodeficiency//msn-related combined immunodeficiency//x-linked moesin-associated immunodeficiency	MSN	MSN	https://raresource.nih.gov/literature/disease/0017939	0017939	300988	504530	C5568123		moesin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to moesin deficiency"	8
3-methylglutaconic aciduria type 9	3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome//3-methylglutaconic aciduria, type ix//3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome//3-methylglutaconic acuduria type ix, mgca9//mga9	TIMM50	TIMM50	https://raresource.nih.gov/literature/disease/0017940	0017940	617698	505216	C4540171		translocase of inner mitochondrial membrane 50	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria type 9"	None
Combined immunodeficiency due to GINS1 deficiency	cid due to gins1 deficiency//combined immunodeficiency due to gins complex subunit 1 deficiency//combined immunodeficiency due to gins1 (gins complex subunit 1) deficiency//combined immunodeficiency with intrauterine growth retardation, nk (natural killer) cell deficiency, neutropenia//combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia//combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia//immunodeficiency 55	GINS1	GINS1	https://raresource.nih.gov/literature/disease/0017941	0017941	617827	505227	C5568132		GINS complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to GINS1 deficiency"	None
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome//iddfsda	OTUD6B	OTUD6B	https://raresource.nih.gov/literature/disease/0017942	0017942	617452	505237	C4479520		OTU deubiquitinase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"	2
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	bilapes//birk-landau-perez syndrome//cerebrorenal syndrome, perez type	SLC30A9	SLC30A9	https://raresource.nih.gov/literature/disease/0017943	0017943	617595	505242	C4539828		solute carrier family 30 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"	3
Mucopolysaccharidosis-plus syndrome	mpsps//mucopolysaccharidosis-like plus disease//mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	VPS33A	VPS33A	https://raresource.nih.gov/literature/disease/0017944	0017944	617303	505248	C4310627		VPS33A core subunit of CORVET and HOPS complexes	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis-plus syndrome"	11
Stromme syndrome	apple peel intestinal atresia, ocular anomalies, microcephaly syndrome//apple peel syndrome with microcephaly and ocular anomalies//apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome//cild31//ciliary dyskinesia, primary, 31//ciliary dyskinesia, primary, type 31//jejunal atresia with microcephaly and ocular anomalies//jejunal atresia, microcephaly, ocular anomalies syndrome//jejunal atresia-microcephaly-ocular anomalies syndrome//lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome//lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome//primary ciliary dyskinesia 31//stroms	CENPF	CENPF	https://raresource.nih.gov/literature/disease/0017945	0017945	243605		C1855705	C565460	centromere protein F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stromme syndrome"	5
Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction	autosomal recessive complex spg due to kennedy pathway dysfunction	SELENOI	SELENOI	https://raresource.nih.gov/literature/disease/0017946	0017946		506353	C5568576		selenoprotein I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction"	None
Gabriele de Vries syndrome	yy1 haploinsufficiency syndrome	YY1	YY1	https://raresource.nih.gov/literature/disease/0017947	0017947	617557	506358	C4479652		YY1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gabriele de Vries syndrome"	17
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		PUF60	PUF60	https://raresource.nih.gov/literature/disease/0017948	0017948		508498	C5568572		poly(U) binding splicing factor 60	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"	None
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome		TOP3A;RMI2	TOP3A;RMI2	https://raresource.nih.gov/literature/disease/0017949	0017949		508512	C5567901		DNA topoisomerase III alpha; RecQ mediated genome instability 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"	None
Hyperphenylalaninemia due to DNAJC12 deficiency	hyperphenylalaninemia, mild, non-bh4-deficient//non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia	DNAJC12	DNAJC12	https://raresource.nih.gov/literature/disease/0017950	0017950	617384	508523	C4479270		DnaJ heat shock protein family (Hsp40) member C12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphenylalaninemia due to DNAJC12 deficiency"	None
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	ebs6//ebssh//epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy//epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy//epidermolysis bullosa simplex, generalized, with scarring and hair loss//epidermolysis bullosa simplex, generalized, with scarring and hair loss; ebssh//generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss//generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss//intermediate ebs with cardiomyopathy//intermediate epidermolysis bullosa simplex with cardiomyopathy	KLHL24	KLHL24	https://raresource.nih.gov/literature/disease/0017951	0017951	617294	508529	C4310631		kelch like family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	None
Autosomal recessive spastic paraplegia type 78	atp13a2 hereditary spastic paraplegia//hereditary spastic paraplegia caused by mutation in atp13a2//spastic paraplegia 78, autosomal recessive//spastic paraplegia 78, autosomal recessive; spg78//spg78//spg78 - autosomal recessive spastic paraplegia type 78	ATP13A2	ATP13A2	https://raresource.nih.gov/literature/disease/0017952	0017952	617225	513436	C5567893		ATPase cation transporting 13A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 78"	2
Skraban-Deardorff syndrome	intellectual disability with seizures, abnormal gait, and distinctive facial features//intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome//intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome//wdr26-related disorder	WDR26	WDR26	https://raresource.nih.gov/literature/disease/0017953	0017953	617616	513456	C4539927		WD repeat domain 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skraban-Deardorff syndrome"	11
Anterior segment dysgenesis 8	anterior segment dysgenesis caused by mutation in cpamd8//anterior segment dysgenesis type 8//asgd8//autosomal recessive anterior segment dysgenesis//autosomal recessive dysgenesis of anterior segment of eye//cpamd8 anterior segment dysgenesis//cpamd8-related anterior segment dysgenesis	CPAMD8	CPAMD8	https://raresource.nih.gov/literature/disease/0017954	0017954	617319	519388	C4310622		C3 and PZP like alpha-2-macroglobulin domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 8"	None
Proximal myopathy with focal depletion of mitochondria		CHKB	CHKB	https://raresource.nih.gov/literature/disease/0017956	0017956	600706	521305	C1833453	C563453	choline kinase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal myopathy with focal depletion of mitochondria"	None
Spastic paraplegia, intellectual disability, nystagmus, and obesity	sino syndrome//spastic paraplegia, intellectual disability, nystagmus, obesity syndrome//spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	KIDINS220	KIDINS220	https://raresource.nih.gov/literature/disease/0017957	0017957	617296	521390	C4284592		kinase D interacting substrate 220	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia, intellectual disability, nystagmus, and obesity"	9
Hypermanganesemia with dystonia 2	dystonia-parkinsonism-hypermanganesemia syndrome//hmndyt2//hmndyt2 - hypermanganesemia with dystonia 2//hypermanganesemia with dystonia 2; hmndyt2//hypermanganesemia with dystonia caused by mutation in slc39a14//hypermanganesemia with dystonia type 2//slc39a14 hypermanganesemia with dystonia	SLC39A14	SLC39A14	https://raresource.nih.gov/literature/disease/0017958	0017958	617013	521406	C4310765		solute carrier family 39 member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypermanganesemia with dystonia 2"	2
Charcot-Marie-tooth disease, axonal, type 2DD	atp1a1 (atpase na+/k+ transporting subunit alpha 1) related autosomal dominant charcot-marie-tooth disease type 2//atp1a1-related autosomal dominant charcot-marie-tooth disease type 2//atp1a1-related cmt2//autosomal dominant charcot-marie-tooth disease type 2dd//charcot-marie-tooth neuropathy, type 2dd//cmt2dd	ATP1A1	ATP1A1	https://raresource.nih.gov/literature/disease/0017959	0017959	618036	521414	C4747974		ATPase Na+/K+ transporting subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-tooth disease, axonal, type 2DD"	1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	phospholipase a2 activating protein-associated neurodevelopmental disorder//plaa-associated neurodevelopmental disorder//plaand//plaand - phospholipase a2 activating protein-associated neurodevelopmental disorder	PLAA	PLAA	https://raresource.nih.gov/literature/disease/0017960	0017960	617527	521426	C4479631		phospholipase A2 activating protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"	1
Congenital vertebral-cardiac-renal anomalies syndrome	congenital nad deficiency disorder//vcrl//vertebral, cardiac, renal, and limb defects syndrome	KYNU;HAAO;NADSYN1	KYNU;HAAO;NADSYN1	https://raresource.nih.gov/literature/disease/0017961	0017961		521438	C5680183		kynureninase; 3-hydroxyanthranilate 3,4-dioxygenase; NAD synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital vertebral-cardiac-renal anomalies syndrome"	15
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	baker gordon syndrome//baker-gordon syndrome//neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram//synaptotagmin 1-related neurodevelopmental disorder//syt1-related neurodevelopmental disorder	SYT1	SYT1	https://raresource.nih.gov/literature/disease/0017962	0017962	618218	522077	C4748715		synaptotagmin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	7
Joint laxity, short stature, and myopia	severe myopia, generalized joint laxity, short stature syndrome//severe myopia-generalized joint laxity-short stature syndrome	GZF1	GZF1	https://raresource.nih.gov/literature/disease/0017963	0017963	617662	527450	C4540020		GDNF inducible zinc finger protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joint laxity, short stature, and myopia"	None
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia//autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia//nk6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy//nkx6-2-related autosomal recessive hypomyelinating leukodystrophy//spax8//spax8 - spastic ataxia 8	NKX6-2	NKX6-2	https://raresource.nih.gov/literature/disease/0017964	0017964	617560	527497	C4479653		NK6 homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	None
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	hlasa//hydrops, lactic acidosis, and sideroblastic anaemia//hydrops, lactic acidosis, and sideroblastic anemia	LARS2	LARS2	https://raresource.nih.gov/literature/disease/0017966	0017966	617021	528091	C4310761		leucyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"	1
HELIX syndrome	helix//helix (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome//hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia//hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome//hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	CLDN10	CLDN10	https://raresource.nih.gov/literature/disease/0017967	0017967	617671	528105	C4522164		claudin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HELIX syndrome"	17
Duane retraction syndrome with congenital deafness	drs with deafness//drs with hearing loss//duane retraction syndrome with congenital hearing loss//durs with deafness//durs with hearing loss	MAFB	MAFB	https://raresource.nih.gov/literature/disease/0017968	0017968		529574	C5680193		MAF bZIP transcription factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duane retraction syndrome with congenital deafness"	None
Glycosylphosphatidylinositol biosynthesis defect 15	developmental delay, epilepsy, cerebellar atrophy, and osteopenia//glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect//gpaa1-related biosynthesis defect//neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome//neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	GPAA1	GPAA1	https://raresource.nih.gov/literature/disease/0017969	0017969	617810	529665	C4540520		glycosylphosphatidylinositol anchor attachment 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycosylphosphatidylinositol biosynthesis defect 15"	1
Pilarowski-Bjornsson syndrome	developmental delay and speech apraxia with or without seizures//intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome//intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	CHD1	CHD1	https://raresource.nih.gov/literature/disease/0017970	0017970	617682	529965	C4540131		chromodomain helicase DNA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pilarowski-Bjornsson syndrome"	3
Male infertility due to acephalic spermatozoa	acephalic spermatozoa syndrome	SUN5;PMFBP1	SUN5;PMFBP1	https://raresource.nih.gov/literature/disease/0017971	0017971		529970	CN312511		Sad1 and UNC84 domain containing 5; polyamine modulated factor 1 binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Male infertility due to acephalic spermatozoa"	44
Hyperlipoproteinemia, type 1D	familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency//familial gpihbp1 deficiency//familial hyperlipidemia caused by mutation in gpihbp1//gpihbp1 familial hyperlipidemia//hyperlipoproteinemia, type id	GPIHBP1	GPIHBP1	https://raresource.nih.gov/literature/disease/0017973	0017973	615947	535458	C4014767		glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperlipoproteinemia, type 1D"	None
Ehlers-Danlos syndrome, classic-like, 2	aebp1-related eds//aebp1-related eds (ehlers-danlos syndrome)//aebp1-related ehlers-danlos syndrome//classical-like eds type 2//classical-like ehlers-danlos syndrome type 2//cleds type 2//edscll2	AEBP1	AEBP1	https://raresource.nih.gov/literature/disease/0017975	0017975	618000	536532	C4693870		AE binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, classic-like, 2"	4
Severe combined immunodeficiency due to CD70 deficiency	cd70 deficiency//cid due to cd70 deficiency//combined immunodeficiency due to cd70 deficiency//lymphoproliferative syndrome 3	CD70	CD70	https://raresource.nih.gov/literature/disease/0017978	0017978	618261	538958	C5568559		CD70 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to CD70 deficiency"	8
Lymphoproliferative syndrome 1	autosomal recessive lymphoproliferative disease due to itk deficiency//combined immunodeficiency due to il2 inducible t cell kinase deficiency//combined immunodeficiency due to interleukin-2 inducible t cell kinase deficiency//combined immunodeficiency due to itk deficiency//itk deficiency//itk lymphoproliferative syndrome//lpfs1//lymphoproliferative syndrome caused by mutation in itk//lymphoproliferative syndrome type 1	ITK	ITK	https://raresource.nih.gov/literature/disease/0017979	0017979	613011	538963	C3552634	C567815	IL2 inducible T cell kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphoproliferative syndrome 1"	19
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	gridhh//growth delay-intellectual disability-hepatopathy syndrome//growth retardation, impaired intellectual development, hypotonia, and hepatopathy//growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; gridhh	IARS1	IARS1	https://raresource.nih.gov/literature/disease/0017980	0017980	617093	541423	C4310720		isoleucyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"	3
Severe combined immunodeficiency due to CARMIL2 deficiency	combined immunodeficiency due to carmil2 deficiency//combined immunodeficiency due to rltpr deficiency//immunodeficiency 58	CARMIL2	CARMIL2	https://raresource.nih.gov/literature/disease/0017981	0017981	618131	542301	C4748304		capping protein regulator and myosin 1 linker 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to CARMIL2 deficiency"	1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome	g protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome//iddca//intellectual developmental disorder with cardiac arrhythmia//intellectual developmental disorder with cardiac arrhythmia; iddca//lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	GNB5	GNB5	https://raresource.nih.gov/literature/disease/0017982	0017982	617173	542306	C5568877		G protein subunit beta 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gnb5-related intellectual disability-cardiac arrhythmia syndrome"	6
Auditory neuropathy-optic atrophy syndrome	anoa//auditory neuropathy and optic atrophy//multiple mitochondrial dysfunctions syndrome 9a	FDXR	FDXR	https://raresource.nih.gov/literature/disease/0017983	0017983	617717	542585	C4521678		ferredoxin reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auditory neuropathy-optic atrophy syndrome"	6
Isolated hyperchlorhidrosis	carbonic anhydrase xii deficiency//hyperchlorhidrosis, isolated	CA12	CA12	https://raresource.nih.gov/literature/disease/0017984	0017984	143860	542657	C1840437		carbonic anhydrase 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated hyperchlorhidrosis"	1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	nmihba//prune exopolyphosphatase 1-related neurological syndrome//prune1-related neurological syndrome	PRUNE1	PRUNE1	https://raresource.nih.gov/literature/disease/0017985	0017985	617481	544469	C4479566		prune exopolyphosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	5
Atypical hemolytic uremic syndrome with complement gene abnormality	ahus (atypical hemolytic uremic syndrome) with complement gene abnormality//ahus with complement gene abnormality//atypical hus with complement gene abnormality	CFI;C3;CD46;CFB;CFH	CFI;C3;CD46;CFB;CFH	https://raresource.nih.gov/literature/disease/0017986	0017986		544472	C5680166		complement factor I; complement C3; CD46 molecule; complement factor B; complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic uremic syndrome with complement gene abnormality"	None
Neurodevelopmental disorder with alopecia and brain abnormalities	bachmann bupp syndrome//bachmann-bupp syndrome//global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome//global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome//nedaba//ornithine decarboxylase deficiency	ODC1	ODC1	https://raresource.nih.gov/literature/disease/0017987	0017987	619075	544488	C5436741		ornithine decarboxylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with alopecia and brain abnormalities"	10
Developmental and epileptic encephalopathy, 73	dee73//epileptic encephalopathy, early infantile, 73//ring finger protein 13-related severe early-onset epileptic encephalopathy//rnf13-related severe early-onset epileptic encephalopathy//rnf13-related severe eoee	RNF13	RNF13	https://raresource.nih.gov/literature/disease/0017988	0017988	618379	544503	C5193065		ring finger protein 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 73"	1
Congenital myopathy with reduced type 2 muscle fibers	congenital myopathy 14//congenital myopathy with fast-twitch fiber atrophy//congenital myopathy with reduced type ii muscle fibers//congenital myopathy with type 2 muscle fiber atrophy//congenital myopathy with type ii fiber atrophy//myopathy, congenital, with fast-twitch (type ii) fiber atrophy//myopathy, congenital, with fast-twitch (type ii) fibre atrophy	MYL1	MYL1	https://raresource.nih.gov/literature/disease/0017989	0017989	618414	544602	C5193081		myosin light chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy with reduced type 2 muscle fibers"	1
NAD(P)HX dehydratase deficiency	carkd deficiency//encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	NAXD	NAXD	https://raresource.nih.gov/literature/disease/0017990	0017990	618321	555402	C5193026		NAD(P)HX dehydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NAD(P)HX dehydratase deficiency"	1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	apolipoprotein a-i binding protein deficiency//nad(p)hx epimerase deficiency//pebel1	NAXE	NAXE	https://raresource.nih.gov/literature/disease/0017991	0017991	617186	555407	C4310675		NAD(P)HX epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1"	4
Pancreatic agenesis-holoprosencephaly syndrome		CNOT1	CNOT1	https://raresource.nih.gov/literature/disease/0017992	0017992		556955	C5681334		CCR4-NOT transcription complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic agenesis-holoprosencephaly syndrome"	None
Oculocerebrodental syndrome	cataracts, early-onset, with skeletal and dental anomalies//ocskd//oculoskeletodental syndrome	PIK3C2A	PIK3C2A	https://raresource.nih.gov/literature/disease/0017993	0017993	618440	557003	C5193101		phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocerebrodental syndrome"	2
Developmental and epileptic encephalopathy, 71	dee71//eiee71//epileptic encephalopathy, early infantile, 71//glutaminase deficiency with neonatal epileptic encephalopathy//neonatal epileptic encephalopathy due to deficiency of glutaminase//neonatal epileptic encephalopathy due to glutaminase deficiency	GLS	GLS	https://raresource.nih.gov/literature/disease/0017994	0017994	618328	557064	C5193030		glutaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 71"	None
Heme oxygenase 1 deficiency	hmox1d//ho-1 (heme oxygenase-1) deficiency//ho-1 deficiency	HMOX1	HMOX1	https://raresource.nih.gov/literature/disease/0017995	0017995	614034	562509	C1841651	C564200	heme oxygenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heme oxygenase 1 deficiency"	78
Autosomal recessive extra-oral halitosis	methanethiol oxidase deficiency//mto-deficiency	SELENBP1	SELENBP1	https://raresource.nih.gov/literature/disease/0017996	0017996	618148	562538	CN294730		selenium binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive extra-oral halitosis"	1
Intellectual disability, anterior maxillary protrusion, and strabismus	anterior maxillary protrusion, strabismus, intellectual disability syndrome//anterior maxillary protrusion-strabismus-intellectual disability syndrome//impaired intellectual development, anterior maxillary protrusion, and strabismus//mrams//mrams (mental retardation, anterior maxillary protrusion, strabismus) syndrome//mrams syndrome	SOBP	SOBP	https://raresource.nih.gov/literature/disease/0017997	0017997	613671	562559	C3150924		sine oculis binding protein homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, anterior maxillary protrusion, and strabismus"	2
Intellectual developmental disorder with cardiac defects and dysmorphic facies	iddcdf//tmem94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome//tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome//transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	TMEM94	TMEM94	https://raresource.nih.gov/literature/disease/0017998	0017998	618316	562569	C5193024		transmembrane protein 94	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with cardiac defects and dysmorphic facies"	1
Combined oxidative phosphorylation deficiency 39	combined oxidative phosphorylation defect type 39//coxpd39//coxpd39 - combined oxidative phosphorylation defect type 39//gfm2-related combined oxidative phosphorylation defect//gtp dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect	GFM2	GFM2	https://raresource.nih.gov/literature/disease/0017999	0017999	618397	565624	C5193075		GTP dependent ribosome recycling factor mitochondrial 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 39"	None
Inflammatory bowel disease, immunodeficiency, and encephalopathy	infantile inflammatory bowel disease with neurological involvement	TGFB1	TGFB1	https://raresource.nih.gov/literature/disease/0018000	0018000	618213	565788	C4748708		transforming growth factor beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory bowel disease, immunodeficiency, and encephalopathy"	None
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	craniosynostosis-microretrognathia-severe intellectual disability syndrome	PPP3CA	PPP3CA	https://raresource.nih.gov/literature/disease/0018001	0018001	618265	565858	C4748872		protein phosphatase 3 catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	None
Nephrotic syndrome, type 24	idiopathic srns//idiopathic steroid-resistant nephrotic syndrome//nphs24	DAAM2	DAAM2	https://raresource.nih.gov/literature/disease/0018003	0018003	619263	567548	C5543267		dishevelled associated activator of morphogenesis 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 24"	51
Multiple mitochondrial dysfunctions syndrome 6	mmds6//multiple mitochondrial dysfunctions syndrome type 6//pmpcb (peptidase mitochondrial processing subunit beta) deficiency//pmpcb deficiency	PMPCB	PMPCB	https://raresource.nih.gov/literature/disease/0018004	0018004	617954	569290	C4693741		peptidase, mitochondrial processing subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 6"	None
Galactosemia 4	deficiency of galactose mutarotase//galac4//galactose mutarotase deficiency//galactosemia iv//galactosemia type 4//galm (galactose mutarotase) deficiency//galm deficiency	GALM	GALM	https://raresource.nih.gov/literature/disease/0018005	0018005	618881	570422	C5394377		galactose mutarotase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galactosemia 4"	10
Combined oxidative phosphorylation deficiency 40	coxpd40//glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect//qrsl1-related combined oxidative phosphorylation defect//qrsl1-related coxpd	QRSL1	QRSL1	https://raresource.nih.gov/literature/disease/0018006	0018006	618835	570491	C5394232		glutaminyl-tRNA amidotransferase subunit QRSL1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 40"	1
Lissencephaly 9 with complex brainstem malformation	posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	MACF1	MACF1	https://raresource.nih.gov/literature/disease/0018007	0018007	618325	572013	C5193029		microtubule actin crosslinking factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly 9 with complex brainstem malformation"	None
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure//bpes type 1	FOXL2	FOXL2	https://raresource.nih.gov/literature/disease/0018008	0018008		572354	C5680365		forkhead box L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"	5
Brachydactyly type B1	bdb1//brachydactyly type b caused by mutation in ror2//ror2 brachydactyly type b	ROR2	ROR2	https://raresource.nih.gov/literature/disease/0018009	0018009	113000	572385	C1862112	C566196	receptor tyrosine kinase like orphan receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type B1"	22
Brown-Vialetto-van Laere syndrome 1	brown-vialetto-van laere syndrome 1, mild//brown-vialetto-van laere syndrome caused by mutation in slc52a3//bulbar palsy, progressive, with sensorineural deafness//rfvt2-related riboflavin transporter deficiency//riboflavin transporter deficiency 2//riboflavin transporter deficiency, type 3 (brown-vialetto-van laere syndrome 1)//rtd2//slc52a3 brown-vialetto-van laere syndrome	SLC52A3	SLC52A3	https://raresource.nih.gov/literature/disease/0018010	0018010		572543	C0796274		solute carrier family 52 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brown-Vialetto-van Laere syndrome 1"	6
Microcephaly-micromelia syndrome	mimis	DONSON	DONSON	https://raresource.nih.gov/literature/disease/0018011	0018011	251230	572768	C1855079	C565382	DNA replication fork stabilization factor DONSON	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-micromelia syndrome"	5
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	mitochondrial tryptophanyl-trna synthetase deficiency//tryptophanyl trna synthetase 2, mitochondrial-related combined oxidative phosphorylation defect//wars2-related combined oxidative phosphorylation defect	WARS2	WARS2	https://raresource.nih.gov/literature/disease/0018012	0018012	617710	572798	C4540192		tryptophanyl tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"	1
Ververi-Brady syndrome	glutamine rich 1-related intellectual disability, chondrodysplasia syndrome//qrich1-related intellectual disability, chondrodysplasia syndrome//qrich1-related intellectual disability-chondrodysplasia syndrome	QRICH1	QRICH1	https://raresource.nih.gov/literature/disease/0018015	0018015	617982	580940	C4693824		glutamine rich 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ververi-Brady syndrome"	4
Spondylometaphyseal dysplasia with corneal dystrophy	smd-corneal dystrophy syndrome//smdcd//spondylometaphyseal dysplasia, corneal dystrophy syndrome//spondylometaphyseal dysplasia-corneal dystrophy syndrome	PLCB3	PLCB3	https://raresource.nih.gov/literature/disease/0018016	0018016	618961	589435	C5394555		phospholipase C beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia with corneal dystrophy"	None
Oculocutaneous albinism type 8	oca8//oca8 - oculocutaneous albinism type 8//oculocutaneous albinism, type viii	DCT	DCT	https://raresource.nih.gov/literature/disease/0018017	0018017	619165	597733	C5436929		dopachrome tautomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 8"	3
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	5,10-methenyltetrahydrofolate synthetase deficiency//methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome//mthfs (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome//mthfs-related developmental delay, microcephaly, short stature, epilepsy syndrome//mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome//nedmehm	MTHFS	MTHFS	https://raresource.nih.gov/literature/disease/0018018	0018018	618367	597874	C5193057		methenyltetrahydrofolate synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"	5
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome//facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome//fheig (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome//fheig syndrome	KCNK4	KCNK4	https://raresource.nih.gov/literature/disease/0018019	0018019	618381	598603	C5193066		potassium two pore domain channel subfamily K member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	4
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation//cimdag (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome//cimdag syndrome	VPS4A	VPS4A	https://raresource.nih.gov/literature/disease/0018020	0018020	619273	603448	C5543287		vacuolar protein sorting 4 homolog A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"	None
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; commad//coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome//coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome//commad//commad (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome//commad syndrome	MITF	MITF	https://raresource.nih.gov/literature/disease/0018021	0018021	617306	603494	C4310625		melanocyte inducing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"	1
Alkuraya-Kucinskas syndrome	kiaa1109-related early lethal congenital brain malformations, arthrogryposis syndrome//kiaa1109-related early lethal congenital brain malformations-arthrogryposis syndrome	BLTP1	BLTP1	https://raresource.nih.gov/literature/disease/0018022	0018022	617822	610569	C4693347		bridge-like lipid transfer protein family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alkuraya-Kucinskas syndrome"	3
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	ceroid lipofuscinosis, neuronal, 15//clcn6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome//cln15//conriba//neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	CLCN6	CLCN6	https://raresource.nih.gov/literature/disease/0018023	0018023	619173	610573	C5543020		chloride voltage-gated channel 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities"	1
Oculogastrointestinal-neurodevelopmental syndrome	ogin syndrome	CAPN15	CAPN15	https://raresource.nih.gov/literature/disease/0018024	0018024	619318	611201	C5543355		calpain 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculogastrointestinal-neurodevelopmental syndrome"	3
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	shilca//shilca syndrome//spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis//spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, leber congenital amaurosis syndrome//spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-leber congenital amaurosis syndrome	NMNAT1	NMNAT1	https://raresource.nih.gov/literature/disease/0018025	0018025	619260	611207	C5543257		nicotinamide nucleotide adenylyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis"	2
AMED syndrome, digenic	aldehyde degradation deficiency syndrome//amed (aplastic anemia, intellectual disability, dwarfism) syndrome//amed syndrome//ameds//aplastic anemia, intellectual disability, dwarfism syndrome//aplastic anemia-intellectual disability-dwarfism syndrome//bone marrow failure syndrome 7, digenic	ADH5	ADH5	https://raresource.nih.gov/literature/disease/0018026	0018026	619151	611216	C5436906		alcohol dehydrogenase 5 (class III), chi polypeptide	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AMED syndrome, digenic"	14
Parkinsonism with polyneuropathy		UQCRC1	UQCRC1	https://raresource.nih.gov/literature/disease/0018028	0018028	619279	611237	C5543299		ubiquinol-cytochrome c reductase core protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinsonism with polyneuropathy"	None
Pontocerebellar hypoplasia, type 11	pch11//pontocerebellar hypoplasia due to tbc1d23	TBC1D23	TBC1D23	https://raresource.nih.gov/literature/disease/0018029	0018029	617695	611247	C4540164		TBC1 domain family member 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 11"	2
Pontocerebellar hypoplasia, type 12	coasy-related pontocerebellar hypoplasia//pch12	COASY	COASY	https://raresource.nih.gov/literature/disease/0018030	0018030	618266	611256	C4748873		Coenzyme A synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 12"	4
Pontocerebellar hypoplasia, type 13	pch13	VPS51	VPS51	https://raresource.nih.gov/literature/disease/0018031	0018031	618606	613267	C5231425		VPS51 subunit of GARP complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 13"	1
Pontocerebellar hypoplasia, type 14	pch14	PPIL1	PPIL1	https://raresource.nih.gov/literature/disease/0018032	0018032	619301	613274	C5543322		peptidylprolyl isomerase like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 14"	1
Spastic paraparesis-cataracts-speech delay syndrome	fatty acyl-coa reductase 1 superactivity	FAR1	FAR1	https://raresource.nih.gov/literature/disease/0018033	0018033	619338	615938	CN315643		fatty acyl-CoA reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraparesis-cataracts-speech delay syndrome"	None
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome//fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome//lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome//phrinl syndrome	ATAD3A	ATAD3A	https://raresource.nih.gov/literature/disease/0018034	0018034	618810	615954	C5394137		ATPase family AAA domain containing 3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	None
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	acute reversible leukoencephalopathy due to slc13a3 deficiency//acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency//acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate	SLC13A3	SLC13A3	https://raresource.nih.gov/literature/disease/0018035	0018035	618384	615964	C5193068		solute carrier family 13 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	None
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation		ATAD3A	ATAD3A	https://raresource.nih.gov/literature/disease/0018036	0018036		615983	C5681819		ATPase family AAA domain containing 3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"	None
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	fpld7//lipodystrophy, familial partial, type 7	CAV1	CAV1	https://raresource.nih.gov/literature/disease/0018038	0018038	606721		C3807567		caveolin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome"	None
Ovarian dysgenesis 1	gonadal dysgenesis xx type deafness//gonadal dysgenesis, xx type//odg1//ovarian dysgenesis, hypergonadotropic, autosomal recessive//ovarian dysgenesis, hypergonadotropic, with normal karyotype//ovarian failure, hypergonadotropic	FSHR	FSHR	https://raresource.nih.gov/literature/disease/0018039	0018039			C0949595	D023961	follicle stimulating hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 1"	None
Ovarian dysgenesis 2	bmp15 primary ovarian failure//odg2//ovarian dysgenesis type 2//ovarian dysgenesis, hypergonadotropic, x-linked//ovarian failure, hypergonadotropic, due to ovarian dysgenesis//primary ovarian failure caused by mutation in bmp15	BMP15	BMP15	https://raresource.nih.gov/literature/disease/0018040	0018040	300510		C1845294	C564499	bone morphogenetic protein 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 2"	1
Ovarian dysgenesis 3	46 xx gonadal dysgenesis caused by mutation in psmc3ip//odg3//ovarian dysgenesis type 3//psmc3ip 46 xx gonadal dysgenesis	PSMC3IP	PSMC3IP	https://raresource.nih.gov/literature/disease/0018041	0018041	614324		C3280471		PSMC3 interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 3"	1
Ovarian dysgenesis 6		NUP107	NUP107	https://raresource.nih.gov/literature/disease/0018042	0018042	618078		C4748084		nucleoporin 107	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 6"	None
Ovarian dysgenesis 7	odg7	MRPS22	MRPS22	https://raresource.nih.gov/literature/disease/0018043	0018043	618117		C4748263		mitochondrial ribosomal protein S22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 7"	None
Premature ovarian failure 16		BNC1	BNC1	https://raresource.nih.gov/literature/disease/0018044	0018044	618723		C5231474		basonuclin zinc finger protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 16"	None
TWIST1-related craniosynostosis	craniosynostosis 1//craniosynostosis type 1//crs1//primary craniosynostosis	TWIST1	TWIST1	https://raresource.nih.gov/literature/disease/0018045	0018045	123100		C4551902		twist family bHLH transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TWIST1-related craniosynostosis"	36
TCF12-related craniosynostosis	craniosynostosis 3//craniosynostosis caused by mutation in tcf12//craniosynostosis type 3//tcf12 craniosynostosis	TCF12	TCF12	https://raresource.nih.gov/literature/disease/0018047	0018047	615314	672979	C3715051		transcription factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TCF12-related craniosynostosis"	8
Craniosynostosis 6	craniosynostosis caused by mutation in zic1//craniosynostosis type 6//crs6//zic1 craniosynostosis	ZIC1	ZIC1	https://raresource.nih.gov/literature/disease/0018048	0018048	616602	672985	C4225269		Zic family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis 6"	None
Cornea plana 2	cna2//cornea plana 2, autosomal recessive//cornea plana caused by mutation in kera//cornea plana type 2//kera cornea plana	KERA	KERA	https://raresource.nih.gov/literature/disease/0018050	0018050	217300		C1857574	C565677	keratocan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornea plana 2"	6
Parietal foramina 1	msx2 parietal foramina//parietal foramina caused by mutation in msx2//parietal foramina, symmetric//pfm1	MSX2	MSX2	https://raresource.nih.gov/literature/disease/0018051	0018051			C1868599	C566827	msh homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parietal foramina 1"	1
Parietal foramina 2	alx4 parietal foramina//parietal foramina caused by mutation in alx4//parietal foramina type 2//pfm2	ALX4	ALX4	https://raresource.nih.gov/literature/disease/0018053	0018053	609597		C1865044	C566510	ALX homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parietal foramina 2"	2
Bronchiectasis with or without elevated sweat chloride 1	besc1//bronchiectasis with or without elevated sweat chloride 1, modifier of//bronchiectasis with or without elevated sweat chloride type 1//cystic fibrosis-like syndrome//non-classic cystic fibrosis-like syndrome	SCNN1B	SCNN1B	https://raresource.nih.gov/literature/disease/0018054	0018054	211400		C2749757	C567618	sodium channel epithelial 1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bronchiectasis with or without elevated sweat chloride 1"	2
Bronchiectasis with or without elevated sweat chloride 2	besc2//bronchiectasis caused by mutation in scnn1a//bronchiectasis with or without elevated sweat chloride type 2//scnn1a bronchiectasis	SCNN1A	SCNN1A	https://raresource.nih.gov/literature/disease/0018055	0018055	613021		C2751666	C567813	sodium channel epithelial 1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bronchiectasis with or without elevated sweat chloride 2"	None
Bronchiectasis with or without elevated sweat chloride 3	besc3//bronchiectasis caused by mutation in scnn1g//bronchiectasis with or without elevated sweat chloride type 3//scnn1g bronchiectasis	SCNN1G	SCNN1G	https://raresource.nih.gov/literature/disease/0018056	0018056	613071		C2751324	C567772	sodium channel epithelial 1 subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bronchiectasis with or without elevated sweat chloride 3"	None
Febrile seizures, familial, 8	childhood absence epilepsy caused by mutation in gabrg2//convulsions, familial febrile, 8//feb8//gabrg2 childhood absence epilepsy//gabrg2 generalised epilepsy with febrile seizures plus//gabrg2 generalized epilepsy with febrile seizures plus//gabrg2-related generalized epilepsy with febrile seizures plus//generalised epilepsy with febrile seizures plus caused by mutation in gabrg2//generalised epilepsy with febrile seizures plus, type 3//generalized epilepsy with febrile seizures plus caused by mutation in gabrg2//generalized epilepsy with febrile seizures plus, type 3	GABRG2	GABRG2	https://raresource.nih.gov/literature/disease/0018058	0018058	607681		C1969810	C565811	gamma-aminobutyric acid type A receptor subunit gamma2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Febrile seizures, familial, 8"	None
Ectodermal dysplasia 4, hair/nail type	ectd4//krt85 pure hair and nail ectodermal dysplasia//pure hair and nail ectodermal dysplasia caused by mutation in krt85	KRT85	KRT85	https://raresource.nih.gov/literature/disease/0018062	0018062	602032		C4024880	C566592	keratin 85	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 4, hair/nail type"	None
Ectodermal dysplasia 7, hair/nail type	ectd7//krt74 pure hair and nail ectodermal dysplasia//pure hair and nail ectodermal dysplasia caused by mutation in krt74	KRT74	KRT74	https://raresource.nih.gov/literature/disease/0018065	0018065	614929		C3554117		keratin 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 7, hair/nail type"	None
Ectodermal dysplasia 9, hair/nail type	ectd9//hoxc13 pure hair and nail ectodermal dysplasia//pure hair and nail ectodermal dysplasia caused by mutation in hoxc13	HOXC13	HOXC13	https://raresource.nih.gov/literature/disease/0018066	0018066	614931		C3554127		homeobox C13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 9, hair/nail type"	3
Mitochondrial complex I deficiency, nuclear type 32	mitochondrial complex 1 deficiency, nuclear type 32	NDUFB8	NDUFB8	https://raresource.nih.gov/literature/disease/0018067	0018067	618252		C4748839		NADH:ubiquinone oxidoreductase subunit B8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 32"	None
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	hoxa11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome//radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in hoxa11//rusat1//thrombocytopenia, congenital, with radioulnar synostosis	HOXA11	HOXA11	https://raresource.nih.gov/literature/disease/0018068	0018068			C4551975		homeobox A11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	None
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	mecom radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome//radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in mecom//radioulnar synostosis and amegakaryocytic thrombocytopenia 2//radioulnar synostosis with amegakaryocytic thrombocytopenia 2; rusat2//radioulnar synostosis with amegakaryocytic thrombocytopenia type 2//rusat2	MECOM	MECOM	https://raresource.nih.gov/literature/disease/0018069	0018069	616738		C4225221		MDS1 and EVI1 complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	None
Cardiomyopathy, familial restrictive, 1	cardiomyopathy, familial restrictive, type 1//familial isolated restrictive cardiomyopathy caused by mutation in tnni3//tnni3 familial isolated restrictive cardiomyopathy//tnni3-related familial restrictive cardiomyopathy	TNNI3	TNNI3	https://raresource.nih.gov/literature/disease/0018070	0018070	115210		C1861861	C566168	troponin I3, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial restrictive, 1"	None
Cardiomyopathy, familial restrictive, 3	cardiomyopathy, familial restrictive, type 3//familial isolated restrictive cardiomyopathy caused by mutation in tnnt2//tnnt2 familial isolated restrictive cardiomyopathy//tnnt2-related familial restrictive cardiomyopathy	TNNT2	TNNT2	https://raresource.nih.gov/literature/disease/0018072	0018072	612422		C2676271	C567316	troponin T2, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial restrictive, 3"	None
Hyperpigmentation with or without hypopigmentation, familial progressive	congenital hypomelanotic and hypermelanotic macules//hyperpigmentation with or without hypopigmentation//macules, hereditary congenital hypopigmented and hyperpigmented//melanosis, universal	KITLG	KITLG	https://raresource.nih.gov/literature/disease/0018073	0018073	145250		C1840392		KIT ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperpigmentation with or without hypopigmentation, familial progressive"	1
Apolipoprotein c-III deficiency		APOC3	APOC3	https://raresource.nih.gov/literature/disease/0018076	0018076	614028		C3151467	C566270	apolipoprotein C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Apolipoprotein c-III deficiency"	2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	megalencephaly, mega corpus callosum, and complete lack of motor development//megalencephaly, polymicrogyria, mega corpus callosum syndrome//megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1//megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in pik3r2//mpph1//pik3r2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	PIK3R2	PIK3R2	https://raresource.nih.gov/literature/disease/0018077	0018077	603387		C4012727	C566381	phosphoinositide-3-kinase regulatory subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	akt3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome//megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, somatic//megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2//megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in akt3//mpph2	AKT3	AKT3	https://raresource.nih.gov/literature/disease/0018078	0018078	615937		C4014738		AKT serine/threonine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	None
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	ccnd2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome//megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3//megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in ccnd2//mpph3	CCND2	CCND2	https://raresource.nih.gov/literature/disease/0018079	0018079	615938		C4014742		cyclin D2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	None
Nephronophthisis 11	nephronophthisis type 11//nphp11	TMEM67	TMEM67	https://raresource.nih.gov/literature/disease/0018080	0018080	613550		C3150796		transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 11"	2
Nephronophthisis 19	dcdc2 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in dcdc2//nephronophthisis type 19//nphp19	DCDC2	DCDC2	https://raresource.nih.gov/literature/disease/0018081	0018081	616217		C4015542		doublecortin domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 19"	1
Epilepsy, familial adult myoclonic, 1	benign adult familial myoclonic epilepsy 1//cortical myoclonic tremor with epilepsy, familial, 1//fame1	SAMD12	SAMD12	https://raresource.nih.gov/literature/disease/0018082	0018082			C1832841	C563399	sterile alpha motif domain containing 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 1"	1
Epilepsy, familial adult myoclonic, 2	adra2b epilepsy, familial adult myoclonic//benign adult familial myoclonic epilepsy 2//cortical myoclonic tremor with epilepsy, familial, 2//cortical myoclonus and epilepsy, autosomal dominant//epilepsy, familial adult myoclonic caused by mutation in adra2b//epilepsy, familial adult myoclonic, type 2//fame2	STARD7	STARD7	https://raresource.nih.gov/literature/disease/0018083	0018083	607876		C1842852	C564313	StAR related lipid transfer domain containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 2"	3
Epilepsy, familial adult myoclonic, 3	cortical myoclonic tremor with epilepsy, familial, 3//fame3	MARCHF6	MARCHF6	https://raresource.nih.gov/literature/disease/0018084	0018084	613608		C3150860	C567098	membrane associated ring-CH-type finger 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 3"	1
Epilepsy, familial adult myoclonic, 4	cortical myoclonic tremor with epilepsy, familial, 4//epilepsy, myoclonic, familial adult, 4//fame4	YEATS2	YEATS2	https://raresource.nih.gov/literature/disease/0018085	0018085	615127		C3554560		YEATS domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 4"	None
Epilepsy, familial adult myoclonic, 5	cntn2 epilepsy, familial adult myoclonic//cortical myoclonic tremor with epilepsy, familial, 5//epeo5//epilepsy, familial adult myoclonic caused by mutation in cntn2//epilepsy, familial adult myoclonic, type 5//epilepsy, myoclonic, familial adult, 5	CNTN2	CNTN2	https://raresource.nih.gov/literature/disease/0018086	0018086	615400		C3809374		contactin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 5"	None
Hypomyelinating leukodystrophy 11	hld11//hypomyelinating leukodystrophy type 11//leukodystrophy caused by mutation in polr1c//leukodystrophy, hypomyelinating, type 11//polr1c leukodystrophy	POLR1C	POLR1C	https://raresource.nih.gov/literature/disease/0018088	0018088	616494		C4225305		RNA polymerase I and III subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 11"	1
Hydrocephalus, congenital communicating, 1	hydrocephalus, congenital, 4	TRIM71	TRIM71	https://raresource.nih.gov/literature/disease/0018090	0018090	618667		C5231454		tripartite motif containing 71	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrocephalus, congenital communicating, 1"	None
Neuropathy, hereditary motor and sensory, type 6A	charcot-marie-tooth disease, type 6a//hereditary motor and sensory neuropathy type 6 caused by mutation in mfn2//hereditary motor and sensory neuropathy via//hmsn via//hmsn6a//mfn2 hereditary motor and sensory neuropathy type 6//neuropathy, hereditary motor and sensory, type via//neuropathy, hereditary motor and sensory, type via, with optic atrophy	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0018091	0018091			CN305336		mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary motor and sensory, type 6A"	1
Neuropathy, hereditary motor and sensory, type 6B	charcot-marie-tooth disease, type 6b//cmt6b//hereditary motor and sensory neuropathy type 6 caused by mutation in slc25a46//hmsn 6b//hmsn vib//hmsn6b//neuropathy, hereditary motor and sensory, type vib//neuropathy, hereditary motor and sensory, type vib, with optic atrophy//slc25a46 hereditary motor and sensory neuropathy type 6	SLC25A46	SLC25A46	https://raresource.nih.gov/literature/disease/0018092	0018092	616505		C4225302		solute carrier family 25 member 46	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary motor and sensory, type 6B"	None
Hypotrichosis 2	cdsn hypotrichosis//hereditary hypotrichosis simplex of scalp//hypotrichosis caused by mutation in cdsn//hypotrichosis simplex of scalp//hypotrichosis simplex of the scalp 1//hypotrichosis type 2//hypotrichosis, spanish type//hypt2//spanish type hypotrichosis	CDSN	CDSN	https://raresource.nih.gov/literature/disease/0018093	0018093	146520		C1840299	C564143	corneodesmosin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 2"	1
Hypotrichosis 3	htss2//hypotrichosis caused by mutation in krt74//hypotrichosis simplex of the scalp 2//hypotrichosis type 3//hypt3//krt74 hypotrichosis	KRT74	KRT74	https://raresource.nih.gov/literature/disease/0018094	0018094	613981		C3151432		keratin 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 3"	None
Hearing loss, X-linked 4	deafness, nonsyndromic sensorineural progressive 6//deafness, x-linked 6, progressive//dfnx4//dfnx4 (dfn6) nonsyndromic hearing loss and deafness	SMPX	SMPX	https://raresource.nih.gov/literature/disease/0018096	0018096	300066		C1848204	C564723	small muscle protein X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, X-linked 4"	3
Hearing loss, X-linked 6	deafness, x-linked 6	COL4A6	COL4A6	https://raresource.nih.gov/literature/disease/0018097	0018097	300914		C3806737		collagen type IV alpha 6 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, X-linked 6"	None
Hearing loss, X-linked 1	deafness, x-linked 1//deafness, x-linked 2, sensorineural congenital//dfnx1 nonsyndromic hearing loss and deafness	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0018098	0018098	304500		C1844677	C564433	phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, X-linked 1"	None
Autosomal dominant nonsyndromic hearing loss 2A	autosomal dominant nonsyndromic deafness 2a//deafness, autosomal dominant 2a//dfna 2 nonsyndromic hearing loss//dfna2 nonsyndromic hearing loss	KCNQ4	KCNQ4	https://raresource.nih.gov/literature/disease/0018099	0018099	600101		C2677637	C567441	potassium voltage-gated channel subfamily Q member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 2A"	2
Autosomal dominant nonsyndromic hearing loss 4A	deafness, autosomal dominant 4a//dfna 4 nonsyndromic hearing loss and deafness	MYH14	MYH14	https://raresource.nih.gov/literature/disease/0018100	0018100	600652		C1833503	C563460	myosin heavy chain 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 4A"	None
Autosomal dominant nonsyndromic hearing loss 6	autosomal dominant nonsyndromic deafness 6//deafness, autosomal dominant 14//deafness, autosomal dominant 38//deafness, autosomal dominant 6//dfna6/14/38 nonsyndromic low-frequency sensorineural hearing loss//lfsnhl//wfs1-related low-frequency sensory hearing loss	WFS1	WFS1	https://raresource.nih.gov/literature/disease/0018101	0018101	600965		C1833021	C563421	wolframin ER transmembrane glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 6"	24
Autosomal dominant nonsyndromic hearing loss 5	dfna 5 nonsyndromic hearing loss and deafness	GSDME	GSDME	https://raresource.nih.gov/literature/disease/0018102	0018102	600994		C1832932	C563410	gasdermin E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 5"	None
Autosomal dominant nonsyndromic hearing loss 10	dfna10 nonsyndromic hearing loss and deafness	EYA4	EYA4	https://raresource.nih.gov/literature/disease/0018103	0018103	601316		C1832476	C563354	EYA transcriptional coactivator and phosphatase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 10"	None
Autosomal dominant nonsyndromic hearing loss 11	dfna11 nonsyndromic hearing loss and deafness	MYO7A	MYO7A	https://raresource.nih.gov/literature/disease/0018104	0018104	601317		C1832475	C563353	myosin VIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 11"	None
Autosomal dominant nonsyndromic hearing loss 9	dfna 9 nonsyndromic hearing loss and deafness	COCH	COCH	https://raresource.nih.gov/literature/disease/0018105	0018105	601369		C1832425	C563335	cochlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 9"	None
Autosomal dominant nonsyndromic hearing loss 7	deafness, autosomal dominant 7	LMX1A	LMX1A	https://raresource.nih.gov/literature/disease/0018106	0018106	601412		C1832379	C563321	LIM homeobox transcription factor 1 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 7"	None
Autosomal dominant nonsyndromic hearing loss 12	deafness, autosomal dominant 8//dfna 8/12 nonsyndromic hearing loss and deafness	TECTA	TECTA	https://raresource.nih.gov/literature/disease/0018107	0018107	601543		C1832187	C563295	tectorin alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 12"	None
Autosomal dominant nonsyndromic hearing loss 13	dfna13 nonsyndromic hearing loss and deafness	COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0018108	0018108	601868		C1866095	C566612	collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 13"	None
Autosomal dominant nonsyndromic hearing loss 15	autosomal dominant nonsyndromic hearing loss 52//deafness, autosomal dominant 52//dfna15//dfna15 nonsyndromic hearing loss and deafness	POU4F3	POU4F3	https://raresource.nih.gov/literature/disease/0018109	0018109	602459		C1865366	C566545	POU class 4 homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 15"	13
Autosomal dominant nonsyndromic hearing loss 20	dfna20/26 nonsyndromic hearing loss and deafness	ACTG1	ACTG1	https://raresource.nih.gov/literature/disease/0018111	0018111	604717		C1858172	C565754	actin gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 20"	None
Autosomal dominant nonsyndromic hearing loss 25	dfna25 nonsyndromic hearing loss and deafness	SLC17A8	SLC17A8	https://raresource.nih.gov/literature/disease/0018112	0018112	605583		C1854158	C565319	solute carrier family 17 member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 25"	None
Autosomal dominant nonsyndromic hearing loss 36	dfna36 nonsyndromic hearing loss and deafness	TMC1	TMC1	https://raresource.nih.gov/literature/disease/0018115	0018115	606705		C1847626	C564675	transmembrane channel like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 36"	None
Autosomal dominant nonsyndromic hearing loss 21	deafness, autosomal dominant 21	RIPOR2	RIPOR2	https://raresource.nih.gov/literature/disease/0018116	0018116	607017		C1846922	C564634	RHO family interacting cell polarization regulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 21"	None
Hearing loss, autosomal recessive	autosomal recessive isolated neurosensory deafness type dfnb//autosomal recessive isolated neurosensory hearing loss type dfnb//autosomal recessive isolated sensorineural deafness type dfnb//autosomal recessive isolated sensorineural hearing loss type dfnb//autosomal recessive non-syndromic neurosensory deafness type dfnb//autosomal recessive non-syndromic neurosensory hearing loss type dfnb//autosomal recessive non-syndromic sensorineural deafness type dfnb//autosomal recessive non-syndromic sensorineural hearing loss type dfnb//autosomal recessive nonsyndromic deafness//deafness, autosomal recessive//nonsyndromic hearing loss, recessive//rare autosomal recessive non-syndromic sensorineural deafness type dfnb	ADCY1;SLITRK6;GPSM2;TMIE;GRAP;MYO7A;WBP2;CLIC5;STRC;TRIOBP;GIPC3;CLDN14;LHFPL5;EPS8L2;NARS2;TMEM132E;GJB6;KARS1;MYO15A;OTOF;ESPN;OTOA;BSND;PNPT1;LRTOMT;ELMOD3;MARVELD2;SYNE4;MSRB3;S1PR2;GRXCR2;ESRRB;MYO6;SLC26A4;RDX;CDH23;WHRN;DCDC2;OTOGL;EPS8;SERPINB6;PTPRQ;COL11A2;LOXHD1;PPIP5K2;TMPRSS3;USH1C;PCDH15;TPRN;AFG2B;GJB2;HGF;MYO3A;CABP2;CDC14A;CIB2;PJVK;MINAR2;MPZL2;MET;OTOG;ROR1;TECTA;RIPOR2;TMC1;ILDR1;TBC1D24;GRXCR1;CEACAM16;GJB3;SLC26A5;BDP1	ADCY1;SLITRK6;GPSM2;TMIE;GRAP;MYO7A;WBP2;CLIC5;STRC;TRIOBP;GIPC3;CLDN14;LHFPL5;EPS8L2;NARS2;TMEM132E;GJB6;KARS1;MYO15A;OTOF;ESPN;OTOA;BSND;PNPT1;LRTOMT;ELMOD3;MARVELD2;SYNE4;MSRB3;S1PR2;GRXCR2;ESRRB;MYO6;SLC26A4;RDX;CDH23;WHRN;DCDC2;OTOGL;EPS8;SERPINB6;PTPRQ;COL11A2;LOXHD1;PPIP5K2;TMPRSS3;USH1C;PCDH15;TPRN;AFG2B;GJB2;HGF;MYO3A;CABP2;CDC14A;CIB2;PJVK;MINAR2;MPZL2;MET;OTOG;ROR1;TECTA;RIPOR2;TMC1;ILDR1;TBC1D24;GRXCR1;CEACAM16;GJB3;SLC26A5;BDP1	https://raresource.nih.gov/literature/disease/0018117	0018117	607197	90636	C1846647	C564609	adenylate cyclase 1; SLIT and NTRK like family member 6; G protein signaling modulator 2; transmembrane inner ear; GRB2 related adaptor protein; myosin VIIA; WW domain binding protein 2; chloride intracellular channel 5; stereocilin; TRIO and F-actin binding protein; GIPC PDZ domain containing family member 3; claudin 14; LHFPL tetraspan subfamily member 5; EPS8 signaling adaptor L2; asparaginyl-tRNA synthetase 2, mitochondrial; transmembrane protein 132E; gap junction protein beta 6; lysyl-tRNA synthetase 1; myosin XVA; otoferlin; espin; otoancorin; barttin CLCNK type accessory subunit beta; polyribonucleotide nucleotidyltransferase 1; leucine rich transmembrane and O-methyltransferase domain containing; ELMO domain containing 3; MARVEL domain containing 2; spectrin repeat containing nuclear envelope family member 4; methionine sulfoxide reductase B3; sphingosine-1-phosphate receptor 2; glutaredoxin and cysteine rich domain containing 2; estrogen related receptor beta; myosin VI; solute carrier family 26 member 4; radixin; cadherin related 23; whirlin; doublecortin domain containing 2; otogelin like; EGFR pathway substrate 8, signaling adaptor; serpin family B member 6; protein tyrosine phosphatase receptor type Q; collagen type XI alpha 2 chain; lipoxygenase homology PLAT domains 1; diphosphoinositol pentakisphosphate kinase 2; transmembrane serine protease 3; USH1 protein network component harmonin; protocadherin related 15; taperin; AFG2 AAA ATPase homolog B; gap junction protein beta 2; hepatocyte growth factor; myosin IIIA; calcium binding protein 2; cell division cycle 14A; calcium and integrin binding family member 2; pejvakin; membrane integral NOTCH2 associated receptor 2; myelin protein zero like 2; MET proto-oncogene, receptor tyrosine kinase; otogelin; receptor tyrosine kinase like orphan receptor 1; tectorin alpha; RHO family interacting cell polarization regulator 2; transmembrane channel like 1; immunoglobulin like domain containing receptor 1; TBC1 domain family member 24; glutaredoxin and cysteine rich domain containing 1; CEA cell adhesion molecule 16, tectorial membrane component; gap junction protein beta 3; solute carrier family 26 member 5; BDP1 general transcription factor IIIB subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive"	31
Autosomal dominant nonsyndromic hearing loss 44	dfna44 nonsyndromic hearing loss and deafness	CCDC50	CCDC50	https://raresource.nih.gov/literature/disease/0018118	0018118	607453		C1843895	C564399	coiled-coil domain containing 50	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 44"	None
Autosomal dominant nonsyndromic hearing loss 48	deafness, autosomal dominant 48//dfna48 nonsyndromic hearing loss and deafness	MYO1A	MYO1A	https://raresource.nih.gov/literature/disease/0018120	0018120	607841		C1842939	C564322	myosin IA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 48"	None
Autosomal dominant nonsyndromic hearing loss 41	deafness, autosomal dominant 41//dfna41 nonsyndromic hearing loss and deafness	P2RX2	P2RX2	https://raresource.nih.gov/literature/disease/0018121	0018121	608224		C1842371	C564272	purinergic receptor P2X 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 41"	None
Autosomal dominant nonsyndromic hearing loss 28	dfna28 nonsyndromic hearing loss and deafness	GRHL2	GRHL2	https://raresource.nih.gov/literature/disease/0018124	0018124	608641		C1837640	C563890	grainyhead like transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 28"	None
Autosomal dominant auditory neuropathy 1	auditory neuropathy caused by mutation in diaph3//auditory neuropathy, autosomal dominant, type 1//auditory neuropathy, nonsyndromic dominant//auna1//autosomal dominant auditory neuropathy type 1//diaph3 auditory neuropathy//nonsyndromic dominant auditory neuropathy//nsdan	DIAPH3	DIAPH3	https://raresource.nih.gov/literature/disease/0018127	0018127	609129		C1836743	C563790	diaphanous related formin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant auditory neuropathy 1"	5
Autosomal dominant nonsyndromic hearing loss 27	deafness, autosomal dominant 27	REST	REST	https://raresource.nih.gov/literature/disease/0018128	0018128	612431		C3887929		RE1 silencing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 27"	None
Autosomal dominant nonsyndromic hearing loss 3B	gjb6-related dfna 3 nonsyndromic hearing loss and deafness	GJB6	GJB6	https://raresource.nih.gov/literature/disease/0018130	0018130	612643		C2675237	C567215	gap junction protein beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 3B"	None
Autosomal dominant nonsyndromic hearing loss 2B	deafness, autosomal dominant, with or without peripheral neuropathy//dfna 2b nonsyndromic hearing loss and deafness	GJB3	GJB3	https://raresource.nih.gov/literature/disease/0018131	0018131	612644		C2675236	C567214	gap junction protein beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 2B"	None
Autosomal dominant nonsyndromic hearing loss 50	dfna50 nonsyndromic hearing loss and deafness	MIR96	MIR96	https://raresource.nih.gov/literature/disease/0018132	0018132	613074		C3888123		microRNA 96	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 50"	None
Autosomal dominant nonsyndromic hearing loss 64		DIABLO	DIABLO	https://raresource.nih.gov/literature/disease/0018134	0018134	614152		C3279948		diablo IAP-binding mitochondrial protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 64"	None
Autosomal dominant nonsyndromic hearing loss 4B		CEACAM16	CEACAM16	https://raresource.nih.gov/literature/disease/0018136	0018136	614614		C3281297		CEA cell adhesion molecule 16, tectorial membrane component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 4B"	None
Autosomal dominant nonsyndromic hearing loss 56	deafness, autosomal dominant 56	TNC	TNC	https://raresource.nih.gov/literature/disease/0018137	0018137	615629		C3810170		tenascin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 56"	None
Autosomal dominant nonsyndromic hearing loss 65	deafness, autosomal dominant 65	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0018140	0018140	616044		C3892048		TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 65"	None
Autosomal dominant nonsyndromic hearing loss 67	deafness, autosomal dominant 67	OSBPL2	OSBPL2	https://raresource.nih.gov/literature/disease/0018141	0018141	616340		C4084712		oxysterol binding protein like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 67"	None
Autosomal dominant nonsyndromic hearing loss 40	deafness, autosomal dominant 40	CRYM	CRYM	https://raresource.nih.gov/literature/disease/0018142	0018142	616357		C4084708		crystallin mu	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 40"	None
Autosomal dominant nonsyndromic hearing loss 69	deafness, autosomal dominant 69//deafness, autosomal dominant 69, unilateral or asymmetric	KITLG	KITLG	https://raresource.nih.gov/literature/disease/0018143	0018143	616697		C4225241		KIT ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 69"	None
Autosomal dominant nonsyndromic hearing loss 68	deafness, autosomal dominant 68	HOMER2	HOMER2	https://raresource.nih.gov/literature/disease/0018144	0018144	616707		C4225240		homer scaffold protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 68"	None
Autosomal dominant nonsyndromic hearing loss 70	deafness, autosomal dominant 70	MCM2	MCM2	https://raresource.nih.gov/literature/disease/0018145	0018145	616968		C4310775		minichromosome maintenance complex component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 70"	1
Autosomal dominant nonsyndromic hearing loss 66	deafness, autosomal dominant 66	CD164	CD164	https://raresource.nih.gov/literature/disease/0018146	0018146	616969		C4283893		CD164 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 66"	None
Hearing loss, autosomal dominant 71	deafness, autosomal dominant 71	DMXL2	DMXL2	https://raresource.nih.gov/literature/disease/0018147	0018147	617605		C4539881		Dmx like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 71"	None
Hearing loss, autosomal dominant 72	deafness, autosomal dominant 72	SLC44A4	SLC44A4	https://raresource.nih.gov/literature/disease/0018148	0018148	617606		C4539886		solute carrier family 44 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 72"	None
Hearing loss, autosomal dominant 73	deafness, autosomal dominant 73	PTPRQ	PTPRQ	https://raresource.nih.gov/literature/disease/0018149	0018149	617663		C4540024		protein tyrosine phosphatase receptor type Q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 73"	None
Hearing loss, autosomal recessive 110	deafness, autosomal recessive 110	COCH	COCH	https://raresource.nih.gov/literature/disease/0018150	0018150	618094		C4748162		cochlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 110"	None
Hearing loss, autosomal dominant 74	deafness, autosomal dominant 74	PDE1C	PDE1C	https://raresource.nih.gov/literature/disease/0018151	0018151	618140		C4748334		phosphodiesterase 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 74"	None
Hearing loss, autosomal recessive 113	deafness, autosomal recessive 113	CEACAM16	CEACAM16	https://raresource.nih.gov/literature/disease/0018152	0018152	618410		C5193079		CEA cell adhesion molecule 16, tectorial membrane component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 113"	None
Hearing loss, autosomal dominant 75	deafness, autosomal dominant 75	TRRAP	TRRAP	https://raresource.nih.gov/literature/disease/0018153	0018153	618778		C5394059		transformation/transcription domain associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 75"	None
Hearing loss, autosomal dominant 76	deafness, autosomal dominant 76	PLS1	PLS1	https://raresource.nih.gov/literature/disease/0018154	0018154	618787		C5394080		plastin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 76"	None
Hearing loss, autosomal dominant 77	deafness, autosomal dominant 77	ABCC1	ABCC1	https://raresource.nih.gov/literature/disease/0018155	0018155	618915		C5394499		ATP binding cassette subfamily C member 1 (ABCC1 blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 77"	None
Hearing loss, autosomal dominant 78	deafness, autosomal dominant 78	SLC12A2	SLC12A2	https://raresource.nih.gov/literature/disease/0018156	0018156	619081		C5436768		solute carrier family 12 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 78"	None
Hearing loss, autosomal dominant 79	deafness, autosomal dominant 79	SCD5	SCD5	https://raresource.nih.gov/literature/disease/0018157	0018157	619086		C5436772		stearoyl-CoA desaturase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 79"	None
Hearing loss, autosomal dominant 80	deafness, autosomal dominant 80	GREB1L	GREB1L	https://raresource.nih.gov/literature/disease/0018158	0018158	619274		C5543289		GREB1 like retinoic acid receptor coactivator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 80"	1
Aminoglycoside-induced deafness	deafness, aminoglycoside-induced//deafness, mitochondrial, modifier of, mitochondrial//deafness, streptomycin-induced//mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure//mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure//mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure//mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure//streptomycin ototoxicity	TRMU	TRMU	https://raresource.nih.gov/literature/disease/0018161	0018161	580000		C1838854	C564013	tRNA mitochondrial 2-thiouridylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aminoglycoside-induced deafness"	25
Fibrosis of extraocular muscles, congenital, 5	cfeom5//col25a1 congenital fibrosis of extraocular muscles//congenital fibrosis of extraocular muscles caused by mutation in col25a1//fibrosis of extraocular muscles, congenital, type 5	COL25A1	COL25A1	https://raresource.nih.gov/literature/disease/0018164	0018164	616219		C4015552		collagen type XXV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrosis of extraocular muscles, congenital, 5"	None
Persistent hyperplastic primary vitreous, autosomal recessive	autosomal recessive persistent hyperplastic primary vitreous//phpvar//retinal nonattachment and falciform detachment//retinal nonattachment, nonsyndromic congenital	ATOH7	ATOH7	https://raresource.nih.gov/literature/disease/0018167	0018167	221900		C1969783	C566966	atonal bHLH transcription factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Persistent hyperplastic primary vitreous, autosomal recessive"	2
Vitamin D-dependent rickets type II with alopecia	generalized resistance to 1,25-dihydroxyvitamin d//hereditary 1,25 dihydroxyvitamin d-resistant rickets with abnormal vitamin d receptor with alopecia//pddr iia//pseudovitamin d-deficiency, type iia//rickets - alopecia syndrome//rickets, hereditary vitamin d-resistant//rickets, vitamin d-resistant, type iia//rickets-alopecia syndrome//vddr iia - vitamin d-dependent rickets iia//vddr2a//vdr vitamin d-dependent rickets, type 2//vitamin d dependent rickets 2a//vitamin d receptor deficiency rickets//vitamin d-dependent rickets type iia//vitamin d-dependent rickets, type 2 caused by mutation in vdr//vitamin d-dependent rickets, type 2a//vitamin d-dependent rickets, type 2a, with or without alopecia//vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol	VDR	VDR	https://raresource.nih.gov/literature/disease/0018169	0018169	277440		C0342646	C562794	vitamin D receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin D-dependent rickets type II with alopecia"	12
Vitamin D-dependent rickets, type 3	vddr3	CYP3A4	CYP3A4	https://raresource.nih.gov/literature/disease/0018171	0018171	619073		C5436733		cytochrome P450 family 3 subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin D-dependent rickets, type 3"	3
Polydactyly, postaxial, type A6		ZNF141	ZNF141	https://raresource.nih.gov/literature/disease/0018176	0018176	615226		C3808889		zinc finger protein 141	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly, postaxial, type A6"	None
Polydactyly, postaxial, type A9		CIBAR1	CIBAR1	https://raresource.nih.gov/literature/disease/0018177	0018177	618219		C4748721		CBY1 interacting BAR domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly, postaxial, type A9"	None
Polydactyly, postaxial, type a10		KIAA0825	KIAA0825	https://raresource.nih.gov/literature/disease/0018178	0018178	618498		C5193129		KIAA0825	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly, postaxial, type a10"	None
Nephronophthisis 3	adolescent nephronophthisis//nephronophthisis (disease) caused by mutation in nphp3//nephronophthisis type 3//nph3//nphp3//nphp3 nephronophthisis (disease)	NPHP3	NPHP3	https://raresource.nih.gov/literature/disease/0018179	0018179	604387		C1858392	C565780	nephrocystin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 3"	19
Nephronophthisis-like nephropathy 1	nephronophthisis (disease) caused by mutation in xpnpep3//nephronophthisis-like nephropathy type 1//nphp-xpnpep3//nphpl1//xpnpep3 nephronophthisis (disease)	XPNPEP3	XPNPEP3	https://raresource.nih.gov/literature/disease/0018180	0018180	613159		C3150419		X-prolyl aminopeptidase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis-like nephropathy 1"	2
Nephronophthisis 20	mapkbp1 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in mapkbp1//nephronophthisis type 20//nphp20	MAPKBP1	MAPKBP1	https://raresource.nih.gov/literature/disease/0018181	0018181	617271		C4310640		mitogen-activated protein kinase binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 20"	1
Infantile nephronophthisis	autosomal recessive infantile nephronophthisis//autosomal recessive infantile nphp//infantile nephronophthisis 2//invs nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in invs//nephronophthisis 2//nephronophthisis 2, infantile//nephronophthisis type 2//nph2//nphp2	INVS	INVS	https://raresource.nih.gov/literature/disease/0018182	0018182	602088	93591	C1865872	C566582	inversin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile nephronophthisis"	32
Nephronophthisis 16	anks6 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in anks6//nephronophthisis type 16//nphp16	ANKS6	ANKS6	https://raresource.nih.gov/literature/disease/0018183	0018183	615382		C3809320		ankyrin repeat and sterile alpha motif domain containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 16"	1
Hypospadias 1, X-linked	hypospadias 1, x-linked, x-linked recessive//hysp1	AR	AR	https://raresource.nih.gov/literature/disease/0018185	0018185	300633		C2678098	C567482	androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypospadias 1, X-linked"	None
Hypospadias 2, X-linked	hypospadias 2, x-linked, x-linked recessive//hysp2	MAMLD1	MAMLD1	https://raresource.nih.gov/literature/disease/0018186	0018186	300758		C2677879	C567462	mastermind like domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypospadias 2, X-linked"	None
Thyroid dyshormonogenesis 1	familial thyroid dyshormonogenesis 1//hypothyroidism, congenital, due to dyshormonogenesis, 1//iodine accumulation, transport, or trapping defect//tdh1//thyroid dyshormonogenesis type 1//thyroid hormonogenesis defect i//thyroid hormonogenesis, genetic defect in, 1	SLC5A5	SLC5A5	https://raresource.nih.gov/literature/disease/0018188	0018188			C1848805		solute carrier family 5 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid dyshormonogenesis 1"	None
Deficiency of iodide peroxidase	congenital hypothyroidism, tpo-related//deficiency of iodinase//familial thyroid dyshormonogenesis caused by mutation in tpo//hypothyroidism, congenital, due to dyshormonogenesis, 2a//iodide peroxidase deficiency//tdh2a//thyroid dyshormonogenesis 2a//thyroid dyshormonogenesis type 2a//thyroid hormonogenesis, genetic defect in, 2a//thyroid peroxidase deficiency//tpo familial thyroid dyshormonogenesis	TPO	TPO	https://raresource.nih.gov/literature/disease/0018189	0018189	274500		C1291299	C563206	thyroid peroxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of iodide peroxidase"	5
Iodotyrosyl coupling defect	congenital thyroid hormone coupling defect//familial thyroid dyshormonogenesis caused by mutation in tg//gdth iii - genetic defect in thyroid hormonogenesis iii//genetic defect in thyroid hormonogenesis iii//hypothyroidism due to coupling defect//hypothyroidism, congenital, due to dyshormonogenesis, 3//tdh3//tg familial thyroid dyshormonogenesis//thyroid dyshormonogenesis 3//thyroid dyshormonogenesis type 3//thyroid hormone coupling defect//thyroid hormonogenesis, genetic defect in, 3	TG	TG	https://raresource.nih.gov/literature/disease/0018190	0018190	274700		C0342194	C562769	thyroglobulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Iodotyrosyl coupling defect"	None
Iodotyrosine deiodination defect	congenital hypothyroidism, iyd-related//deiodinase deficiency//familial thyroid dyshormonogenesis caused by mutation in iyd//genetic defect in thyroid hormonogenesis iv//hypothyroidism due to deiodase defect//hypothyroidism due to iodotyrosine deiodinase defect//hypothyroidism, congenital, due to dyshormonogenesis, 4//iodotyrosine dehalogenase deficiency//iodotyrosine deiodinase deficiency//iyd familial thyroid dyshormonogenesis//tdh4//thyroid dyshormonogenesis 4//thyroid dyshormonogenesis type 4//thyroid hormonogenesis, genetic defect in, 4	IYD	IYD	https://raresource.nih.gov/literature/disease/0018191	0018191	274800		C0342195	C562770	iodotyrosine deiodinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Iodotyrosine deiodination defect"	16
Thyroglobulin synthesis defect	duoxa2 familial thyroid dyshormonogenesis//familial thyroid dyshormonogenesis caused by mutation in duoxa2//genetic defect in thyroid hormonogenesis v//hypothyroidism due to thyroglobulin biosynthetic defect//hypothyroidism due to thyroglobulin synthesis defect//hypothyroidism, congenital, due to dyshormonogenesis, 5//tdh5//thyroid dyshormonogenesis 5//thyroid dyshormonogenesis type 5//thyroid hormonogenesis, genetic defect in, 5	DUOXA2	DUOXA2	https://raresource.nih.gov/literature/disease/0018192	0018192	274900		C0342196	C562771	dual oxidase maturation factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroglobulin synthesis defect"	7
Thyroid dyshormonogenesis 6	congenital hypothyroidism, duox2-related//duox2 familial thyroid dyshormonogenesis//familial thyroid dyshormonogenesis caused by mutation in duox2//hypothyroidism, congenital, due to dyshormonogenesis, 6//tdh6//thyroid dyshormonogenesis type 6//thyroid hormonogenesis, genetic defect in, 6	DUOX2	DUOX2	https://raresource.nih.gov/literature/disease/0018193	0018193	607200		C1846632	C564608	dual oxidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid dyshormonogenesis 6"	4
Immunodeficiency 75	imd75//immunodeficiency 75 with lymphoproliferation	TET2	TET2	https://raresource.nih.gov/literature/disease/0018194	0018194	619126	664729	C5436860		tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 75"	None
Vitamin K-dependent clotting factors, combined deficiency of, type 1	congenital vitamin k-dependent coagulation factors combined deficiency caused by mutation in ggcx//factors ii, vii, ix, and x, combined deficiency of//familial multiple coagulation factor deficiency iii//fmfd iii//ggcx congenital vitamin k-dependent coagulation factors combined deficiency//glutamic acid, deficient gamma-carboxylation of//multiple coagulation factor deficiency iii//vitamin k-dependent coagulation defect	GGCX	GGCX	https://raresource.nih.gov/literature/disease/0018195	0018195	277450		C1848534	C564741	gamma-glutamyl carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin K-dependent clotting factors, combined deficiency of, type 1"	None
Vitamin K-dependent clotting factors, combined deficiency of, type 2	congenital vitamin k-dependent coagulation factors combined deficiency caused by mutation in vkorc1//vitamin k-dependent clotting factors, combined deficiency of, 2//vkorc1 congenital vitamin k-dependent coagulation factors combined deficiency	VKORC1	VKORC1	https://raresource.nih.gov/literature/disease/0018196	0018196	607473		C1843832	C564393	vitamin K epoxide reductase complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin K-dependent clotting factors, combined deficiency of, type 2"	None
Myopia, high, with cataract and vitreoretinal degeneration	mcvd	P3H2	P3H2	https://raresource.nih.gov/literature/disease/0018197	0018197	614292		C3280346		prolyl 3-hydroxylase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopia, high, with cataract and vitreoretinal degeneration"	4
Myopia 23, autosomal recessive	myp23	LRPAP1	LRPAP1	https://raresource.nih.gov/literature/disease/0018198	0018198	615431		C3809482		LDL receptor related protein associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopia 23, autosomal recessive"	None
Optic atrophy 9	aco2 autosomal recessive isolated optic atrophy//autosomal recessive isolated optic atrophy caused by mutation in aco2//opa9	ACO2	ACO2	https://raresource.nih.gov/literature/disease/0018199	0018199	616289		C4225384		aconitase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 9"	1
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	opa10//optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures//optic atrophy 10 with or without ataxia, mental retardation, and seizures//rtn4ip1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizures//rtn4ip1-related optic atrophy with or without neurological features	RTN4IP1	RTN4IP1	https://raresource.nih.gov/literature/disease/0018200	0018200	616732		C4225227		reticulon 4 interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 10 with or without ataxia, intellectual disability, and seizures"	3
Optic atrophy 11	autosomal recessive isolated optic atrophy caused by mutation in yme1l1//opa11//optic atrophy type 11//yme1l1 autosomal recessive isolated optic atrophy	YME1L1	YME1L1	https://raresource.nih.gov/literature/disease/0018201	0018201	617302		C4310628		YME1 like 1 ATPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 11"	None
Epilepsy, familial focal, with variable foci 1	depdc5 epilepsy, familial focal, with variable foci//depdc5-related epilepsy//epilepsy, familial focal, with variable foci caused by mutation in depdc5//ffevf1	DEPDC5	DEPDC5	https://raresource.nih.gov/literature/disease/0018202	0018202	604364		C4551983		DEP domain containing 5, GATOR1 subcomplex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial focal, with variable foci 1"	18
Epilepsy, familial focal, with variable foci 2	epilepsy, familial focal, with variable foci 2; ffevf2//epilepsy, familial focal, with variable foci caused by mutation in nprl2//epilepsy, familial focal, with variable foci type 2//ffevf2//nprl2 epilepsy, familial focal, with variable foci	NPRL2	NPRL2	https://raresource.nih.gov/literature/disease/0018203	0018203	617116		C4310709		NPR2 like, GATOR1 complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial focal, with variable foci 2"	None
Epilepsy, familial focal, with variable foci 3	epilepsy, familial focal, with variable foci 3; ffevf3//epilepsy, familial focal, with variable foci caused by mutation in nprl3//epilepsy, familial focal, with variable foci type 3//ffevf3//nprl3 epilepsy, familial focal, with variable foci	NPRL3	NPRL3	https://raresource.nih.gov/literature/disease/0018204	0018204	617118		C4310708		NPR3 like, GATOR1 complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial focal, with variable foci 3"	None
Emery-Dreifuss muscular dystrophy 4, autosomal dominant	autosomal dominant emery-dreifuss muscular dystrophy caused by mutation in syne1//edmd4//emery-dreifuss muscular dystrophy 4 with variable features//syne1 autosomal dominant emery-dreifuss muscular dystrophy//syne1-related emery-dreifuss muscular dystrophy	SYNE1	SYNE1	https://raresource.nih.gov/literature/disease/0018206	0018206	612998		C2751807	C567831	spectrin repeat containing nuclear envelope protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	None
Emery-Dreifuss muscular dystrophy 5, autosomal dominant	autosomal dominant emery-dreifuss muscular dystrophy caused by mutation in syne2//edmd5//emery-dreifuss muscular dystrophy 5//syne2 autosomal dominant emery-dreifuss muscular dystrophy//syne2-related emery-dreifuss muscular dystrophy	SYNE2	SYNE2	https://raresource.nih.gov/literature/disease/0018207	0018207	612999		C2751805		spectrin repeat containing nuclear envelope protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	1
Emery-Dreifuss muscular dystrophy 7, autosomal dominant	autosomal dominant emery-dreifuss muscular dystrophy caused by mutation in tmem43//edmd7//emery-dreifuss muscular dystrophy 7, ad//tmem43 autosomal dominant emery-dreifuss muscular dystrophy	TMEM43	TMEM43	https://raresource.nih.gov/literature/disease/0018208	0018208	614302		C3553060		transmembrane protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-Dreifuss muscular dystrophy 7, autosomal dominant"	None
Emery-Dreifuss muscular dystrophy 3, autosomal recessive	autosomal recessive emery-dreifuss muscular dystrophy caused by mutation in lmna//edmd3//lmna autosomal recessive emery-dreifuss muscular dystrophy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0018209	0018209	616516		C2750035	C567633	lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-Dreifuss muscular dystrophy 3, autosomal recessive"	1
Congenital myasthenic syndrome 5	cms ic//cms5//colq congenital myasthenic syndrome//colq-related congenital myasthenic syndrome//congenital myasthenic syndrome caused by mutation in colq//congenital myasthenic syndrome engel type//congenital myasthenic syndrome type 5//congenital myasthenic syndrome type ic//ead//end plate acetylcholinesterase deficiency//engel congenital myasthenic syndrome//myasthenic syndrome, congenital, type 5	COLQ	COLQ	https://raresource.nih.gov/literature/disease/0018210	0018210	603034		C1864233	C566415	collagen like tail subunit of asymmetric acetylcholinesterase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 5"	507
Guillain-Barre syndrome, familial	aidp//gbs//neuropathy, inflammatory demyelinating//polyneuropathy, inflammatory demyelinating, acute	PMP22	PMP22	https://raresource.nih.gov/literature/disease/0018211	0018211	139393		C4083008		peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Guillain-Barre syndrome, familial"	6599
Posterior polymorphous corneal dystrophy 1	ched1//corneal dystrophy, posterior polymorphous, type 1//corneal endothelial dystrophy 1, autosomal dominant//maumenee corneal dystrophy//posterior polymorphous corneal dystrophy type 1//ppcd1	OVOL2	OVOL2	https://raresource.nih.gov/literature/disease/0018212	0018212	122000		C1852555		ovo like zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior polymorphous corneal dystrophy 1"	11
Posterior polymorphous corneal dystrophy 2	col8a2 posterior polymorphous corneal dystrophy//corneal dystrophy, posterior polymorphous 2//corneal dystrophy, posterior polymorphous, type 2//posterior polymorphous corneal dystrophy caused by mutation in col8a2//posterior polymorphous corneal dystrophy type 2//ppcd2	COL8A2	COL8A2	https://raresource.nih.gov/literature/disease/0018213	0018213	609140		C1852795	C565176	collagen type VIII alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior polymorphous corneal dystrophy 2"	None
Posterior polymorphous corneal dystrophy 3	corneal dystrophy, posterior polymorphous, type 3//posterior polymorphous corneal dystrophy caused by mutation in zeb1//posterior polymorphous corneal dystrophy type 3//ppcd3//zeb1 posterior polymorphous corneal dystrophy	ZEB1	ZEB1	https://raresource.nih.gov/literature/disease/0018214	0018214	609141		C1836724	C563788	zinc finger E-box binding homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior polymorphous corneal dystrophy 3"	13
Corneal dystrophy, posterior polymorphous, 4		GRHL2	GRHL2	https://raresource.nih.gov/literature/disease/0018215	0018215	618031		C4747961		grainyhead like transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, posterior polymorphous, 4"	None
Corneal dystrophy, Fuchs endothelial, 1	col8a2 fuchs' endothelial dystrophy//corneal dystrophy, fuchs endothelial, type 1//fuchs' endothelial dystrophy caused by mutation in col8a2	COL8A2	COL8A2	https://raresource.nih.gov/literature/disease/0018216	0018216	136800		C1850959	C535478	collagen type VIII alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Fuchs endothelial, 1"	None
Corneal dystrophy, Fuchs endothelial, 3	corneal dystrophy, fuchs endothelial, type 3//fcd2 locus//fecd3//fuchs' endothelial dystrophy caused by mutation in tcf4//tcf4 fuchs' endothelial dystrophy	TCF4	TCF4	https://raresource.nih.gov/literature/disease/0018218	0018218	613267		C2750451	C567678	transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Fuchs endothelial, 3"	None
Corneal dystrophy, Fuchs endothelial, 4	corneal dystrophy, fuchs endothelial, type 4//fecd4//fuchs' endothelial dystrophy caused by mutation in slc4a11//slc4a11 fuchs' endothelial dystrophy	SLC4A11	SLC4A11	https://raresource.nih.gov/literature/disease/0018219	0018219	613268		C2750450	C567677	solute carrier family 4 member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Fuchs endothelial, 4"	2
Corneal dystrophy, Fuchs endothelial, 6	corneal dystrophy, fuchs endothelial, type 6//fecd6//fuchs' endothelial dystrophy caused by mutation in zeb1//zeb1 fuchs' endothelial dystrophy	ZEB1	ZEB1	https://raresource.nih.gov/literature/disease/0018221	0018221	613270		C2750448	C567675	zinc finger E-box binding homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Fuchs endothelial, 6"	1
Corneal dystrophy, Fuchs endothelial, 8	agbl1 fuchs' endothelial dystrophy//corneal dystrophy, fuchs endothelial, type 8//fecd8//fuchs' endothelial dystrophy caused by mutation in agbl1	AGBL1	AGBL1	https://raresource.nih.gov/literature/disease/0018223	0018223	615523		C3809798		AGBL carboxypeptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Fuchs endothelial, 8"	None
Glaucoma 3A	glaucoma 3, primary congenital, a//glaucoma 3, primary congenital, type a//glaucoma 3a, primary open angle, congenital, juvenile, or adult onset//primary congenital glaucoma 3a//simple buphthalmos	CYP1B1	CYP1B1	https://raresource.nih.gov/literature/disease/0018224	0018224	231300	98976	C1856439		cytochrome P450 family 1 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 3A"	1
Glaucoma 3, primary congenital, D	glaucoma 3, primary congenital, type d	LTBP2	LTBP2	https://raresource.nih.gov/literature/disease/0018226	0018226	613086		C2751316	C567765	latent transforming growth factor beta binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 3, primary congenital, D"	None
Glaucoma 3, primary congenital, E	glaucoma 3, primary congenital, e; glc3e//glaucoma 3, primary congenital, type e//glc3e	TEK	TEK	https://raresource.nih.gov/literature/disease/0018227	0018227	617272		C4310639		TEK receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 3, primary congenital, E"	None
Cataract 41	cataract 41, congenital nuclear type//cataract type 41//congenital nuclear type cataract 41//ctrct41//early-onset non-syndromic cataract caused by mutation in wfs1//wfs1 early-onset non-syndromic cataract	WFS1	WFS1	https://raresource.nih.gov/literature/disease/0018234	0018234	116400		C3805412		wolframin ER transmembrane glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 41"	None
Cataract 33	bfsp1 early-onset non-syndromic cataract//cataract 33, cortical//cataract type 33//ctrct33//early-onset non-syndromic cataract caused by mutation in bfsp1	BFSP1	BFSP1	https://raresource.nih.gov/literature/disease/0018236	0018236	611391		C3808107	C566955	beaded filament structural protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 33"	None
Patterned macular dystrophy 1	butterfly dystrophy of retinal pigment epithelium//butterfly-shaped pigmentary maculary dystrophy 1//macular dystrophy, butterfly-shaped pigmentary//macular dystrophy, patterned, type 1//mdpt1//patterned macular dystrophy caused by mutation in prph2//patterned macular dystrophy type 1//prph2 patterned macular dystrophy	PRPH2	PRPH2	https://raresource.nih.gov/literature/disease/0018237	0018237	169150		C4551999		peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Patterned macular dystrophy 1"	None
Patterned macular dystrophy 2	butterfly-shaped pigmentary maculary dystrophy 2//ctnna1 patterned macular dystrophy//macular dystrophy, patterned, type 2//mdpt2//patterned macular dystrophy caused by mutation in ctnna1//patterned macular dystrophy type 2	CTNNA1	CTNNA1	https://raresource.nih.gov/literature/disease/0018238	0018238	608970		C1837029		catenin alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Patterned macular dystrophy 2"	None
RCBTB1-related retinopathy	rdeoa//retinal dystrophy with or without extraocular anomalies	RCBTB1	RCBTB1	https://raresource.nih.gov/literature/disease/0018241	0018241	617175		C4310680		RCC1 and BTB domain containing protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RCBTB1-related retinopathy"	None
Tooth agenesis, selective, 1	hypodontia/oligodontia 1//msx1 tooth agenesis//msx1-related tooth agenesis with or without orofacial cleft//second premolars and third molars, absence of//tooth agenesis caused by mutation in msx1//tooth agenesis, selective, 1, with or without orofacial cleft//tooth agenesis, selective, type 1	MSX1	MSX1	https://raresource.nih.gov/literature/disease/0018244	0018244	106600		C3489529		msh homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 1"	None
Tooth agenesis, selective, 4	lateral incisors, absence of//lateral incisors, pegged or missing//sthag4//succedaneous teeth, agenesis of//tooth agenesis caused by mutation in wnt10a//tooth agenesis, selective, 4, with or without ectodermal dysplasia//tooth agenesis, selective, type 4//wnt10a tooth agenesis	WNT10A	WNT10A	https://raresource.nih.gov/literature/disease/0018245	0018245	150400		C1835492	C563634	Wnt family member 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 4"	None
Tooth agenesis, selective, X-linked, 1	eda tooth agenesis//hypodontia/oligodontia, x-linked, 1//sthagx1//tooth agenesis caused by mutation in eda//tooth agenesis, selective, x-linked 1, x-linked dominant//tooth agenesis, selective, x-linked, type 1	EDA	EDA	https://raresource.nih.gov/literature/disease/0018246	0018246	313500		C1970757	C567060	ectodysplasin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, X-linked, 1"	None
Tooth agenesis, selective, 3	hypodontia/oligodontia 3//pax9 tooth agenesis//pax9-related selective tooth agenesis//sthag3//tooth agenesis caused by mutation in pax9//tooth agenesis, selective, type 3	PAX9	PAX9	https://raresource.nih.gov/literature/disease/0018247	0018247	604625		C1970291	C567036	paired box 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 3"	None
Tooth agenesis, selective, 7	lrp6 tooth agenesis//sthag7//tooth agenesis caused by mutation in lrp6//tooth agenesis, selective, 7; sthag7//tooth agenesis, selective, type 7	LRP6	LRP6	https://raresource.nih.gov/literature/disease/0018249	0018249	616724		C4225231		LDL receptor related protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 7"	None
Tooth agenesis, selective, 8	sthag8//tooth agenesis caused by mutation in wnt10b//tooth agenesis, selective, 8; sthag8//tooth agenesis, selective, type 8//wnt10b tooth agenesis	WNT10B	WNT10B	https://raresource.nih.gov/literature/disease/0018250	0018250	617073		C4310730		Wnt family member 10B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 8"	None
Myoglobinuria, acute recurrent, autosomal recessive	myoglobinuria, familial paroxysmal paralytic//myoglobinuria, recurrent, autosomal recessive//rhabdomyolysis, acute recurrent	LPIN1	LPIN1	https://raresource.nih.gov/literature/disease/0018251	0018251	268200		C1849386	C564832	lipin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoglobinuria, acute recurrent, autosomal recessive"	None
Leukoencephalopathy, progressive, with ovarian failure	lkenp	AARS2	AARS2	https://raresource.nih.gov/literature/disease/0018252	0018252	615889		C4014588		alanyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy, progressive, with ovarian failure"	None
Hyperparathyroidism 1	cdc73-related familial isolated hyperparathyroidism//hrpt1//hyperparathyroidism type 1//hyperparathyroidism, familial isolated primary//hyperparathyroidism, familial primary	CDC73	CDC73	https://raresource.nih.gov/literature/disease/0018253	0018253	145000		C1840402	C564166	cell division cycle 73	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperparathyroidism 1"	None
Hyperparathyroidism 4	familial isolated hyperparathyroidism caused by mutation in gcm2//gcm2 familial isolated hyperparathyroidism//hrpt4//hyperparathyroidism type 4	GCM2	GCM2	https://raresource.nih.gov/literature/disease/0018256	0018256	617343		C4479229		glial cells missing transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperparathyroidism 4"	None
Hypoparathyroidism, familial isolated, 2	fih2	GCM2	GCM2	https://raresource.nih.gov/literature/disease/0018257	0018257	618883		C5394383		glial cells missing transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoparathyroidism, familial isolated, 2"	None
Amelogenesis imperfecta type 3B	ai3b//amelogenesis imperfecta, type iiib	AMTN	AMTN	https://raresource.nih.gov/literature/disease/0018258	0018258	617607		C4539891		amelotin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta type 3B"	None
Congenital secretory sodium diarrhea 3	congenital secretory sodium diarrhea 3 syndromic//congenital secretory sodium diarrhea 3 with or without other congenital anomalies//congenital secretory sodium diarrhea type 3//congenital secretory sodium diarrhoea 3 syndromic//congenital secretory sodium diarrhoea 3 with or without other congenital anomalies//congenital secretory sodium diarrhoea type 3//diar3//diarrhea 3, secretory sodium, congenital, syndromic//diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies//secretory diarrhea caused by mutation in spint2//secretory diarrhoea caused by mutation in spint2//spint2 secretory diarrhea//spint2 secretory diarrhoea	SPINT2	SPINT2	https://raresource.nih.gov/literature/disease/0018260	0018260			C5441927		serine peptidase inhibitor, Kunitz type 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital secretory sodium diarrhea 3"	None
Congenital secretory sodium diarrhea 8	congenital secretory sodium diarrhea type 8//congenital secretory sodium diarrhoea type 8//diar8//diarrhea 8, secretory sodium, congenital//diarrhoea 8, secretory sodium, congenital//secretory diarrhea caused by mutation in slc9a3//secretory diarrhoea caused by mutation in slc9a3//slc9a3 secretory diarrhea//slc9a3 secretory diarrhoea	SLC9A3	SLC9A3	https://raresource.nih.gov/literature/disease/0018261	0018261	616868		C5441928		solute carrier family 9 member A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital secretory sodium diarrhea 8"	None
Neuronopathy, distal hereditary motor, type 2A	charcot-marie-tooth disease, spinal, iia//distal hereditary motor neuronopathy, type iia//hmn iia//hspb8 neuronopathy, distal hereditary motor//neuronopathy, distal hereditary motor caused by mutation in hspb8//neuronopathy, distal hereditary motor, autosomal dominant 2//neuronopathy, distal hereditary motor, harding type iia//neuropathy, distal hereditary motor, harding type iia//spinal muscular atrophy, distal, adult, autosomal dominant, harding type iia	HSPB8	HSPB8	https://raresource.nih.gov/literature/disease/0018262	0018262	158590		C1834692	C563561	heat shock protein family B (small) member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 2A"	1
Neuronopathy, distal hereditary motor, type 2B	distal hereditary motor neuronopathy, type iib//hmn iib//hspb1 neuronopathy, distal hereditary motor//neuronopathy, distal hereditary motor caused by mutation in hspb1//neuronopathy, distal hereditary motor, autosomal dominant 3//neuronopathy, distal hereditary motor, harding type iib//neuropathy, distal hereditary motor, harding type iib	HSPB1	HSPB1	https://raresource.nih.gov/literature/disease/0018263	0018263	608634		C2608087	C567084	heat shock protein family B (small) member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 2B"	None
Neuronopathy, distal hereditary motor, type 2C	distal hereditary motor neuronopathy, type iic//hmn iic//hspb3 neuronopathy, distal hereditary motor//neuronopathy, distal hereditary motor caused by mutation in hspb3//neuronopathy, distal hereditary motor, harding type iic//neuropathy, distal hereditary motor, autosomal dominant 4//neuropathy, distal hereditary motor, harding type iic	HSPB3	HSPB3	https://raresource.nih.gov/literature/disease/0018264	0018264	613376		C3150619		heat shock protein family B (small) member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 2C"	None
Neuronopathy, distal hereditary motor, type 2D	fbxo38 neuronopathy, distal hereditary motor//hmn iid//neuronopathy, distal hereditary motor caused by mutation in fbxo38//neuronopathy, distal hereditary motor, autosomal dominant 6//neuronopathy, distal hereditary motor, harding type iid//neuropathy, distal hereditary motor, harding type iid//spinal muscular atrophy, distal, autosomal dominant, calf-predominant	FBXO38	FBXO38	https://raresource.nih.gov/literature/disease/0018265	0018265	615575		C3888271		F-box protein 38	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 2D"	None
Neuronopathy, distal hereditary motor, type 5A	dhmn 5a//dhmn va//distal spinal muscular atrophy v//hmn5a//hmnd5//neuronopathy, distal hereditary motor, autosomal dominant 5//neuronopathy, distal hereditary motor, type va//neuropathy, distal hereditary motor, type 5a//spinal muscular atrophy, distal, type 5a//spinal muscular atrophy, distal, with upper limb predominance	GARS1	GARS1	https://raresource.nih.gov/literature/disease/0018266	0018266			CN031873		glycyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 5A"	None
Neuronopathy, distal hereditary motor, type 5B	dhmn vb//hmn vb//neuronopathy, distal hereditary motor caused by mutation in reep1//neuronopathy, distal hereditary motor, harding type vb//neuropathy, distal hereditary motor, harding type vb//reep1 neuronopathy, distal hereditary motor//spinal muscular atrophy, distal, harding type vb	REEP1	REEP1	https://raresource.nih.gov/literature/disease/0018267	0018267	614751		C3553656		receptor accessory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 5B"	None
Neuronopathy, distal hereditary motor, type 5C	dhmn vc//dhmn5c//hmn5c//neuronopathy, distal hereditary motor, autosomal dominant 13//neuronopathy, distal hereditary motor, harding type vc//neuropathy, distal hereditary motor, harding type vc//neuropathy, distal hereditary motor, type vc//spinal muscular atrophy, distal, harding type vc//spinal muscular atrophy, distal, type 5c	BSCL2	BSCL2	https://raresource.nih.gov/literature/disease/0018268	0018268	619112		C5436838		BSCL2 lipid droplet biogenesis associated, seipin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 5C"	None
Neuronopathy, distal hereditary motor, type 7A	harper-young myopathy//hmn viia//neuronopathy, distal hereditary motor caused by mutation in slc5a7//neuronopathy, distal hereditary motor, autosomal dominant 7//neuronopathy, distal hereditary motor, harding type viia//neuronopathy, distal hereditary motor, type viia//neuropathy, distal hereditary motor, harding type viia//slc5a7 neuronopathy, distal hereditary motor//spinal muscular atrophy, distal, with vocal cord paralysis	SLC5A7	SLC5A7	https://raresource.nih.gov/literature/disease/0018269	0018269	158580		C1834703	C563562	solute carrier family 5 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 7A"	None
Neuronopathy, distal hereditary motor, type 7B	dctn1 neuronopathy, distal hereditary motor//hmn viib//lower motor neuron disease, dynactin type//neuronopathy, distal hereditary motor caused by mutation in dctn1//neuronopathy, distal hereditary motor, autosomal dominant 14//neuronopathy, distal hereditary motor, harding type viib//neuropathy, distal hereditary motor, harding type viib//neuropathy, distal hereditary motor, with vocal cord paralysis, harding type viib	DCTN1	DCTN1	https://raresource.nih.gov/literature/disease/0018270	0018270	607641		C1843315	C564362	dynactin subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 7B"	None
Macrothrombocytopenia, isolated, 1, autosomal dominant	autosomal dominant macrothrombocytopenia caused by mutation in tubb1//autosomal dominant macrothrombocytopenia tubb1-related//macrothrombocytopenia, autosomal dominant, tubb1-related//macthc1//tubb1 autosomal dominant macrothrombocytopenia	TUBB1	TUBB1	https://raresource.nih.gov/literature/disease/0018271	0018271	613112		C5676892	C567747	tubulin beta 1 class VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrothrombocytopenia, isolated, 1, autosomal dominant"	None
Platelet-type bleeding disorder 15	actn1 inherited bleeding disorder, platelet-type//autosomal dominant macrothrombocytopenia actn1-related//bdplt15//inherited bleeding disorder, platelet-type caused by mutation in actn1//macrothrombocytopenia, autosomal dominant, actn1-related	ACTN1	ACTN1	https://raresource.nih.gov/literature/disease/0018272	0018272	615193		C3554663		actinin alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 15"	None
Bleeding disorder, platelet-type, 24	bdplt24//bleeding disorder, platelet-type, 24, autosomal dominant//glanzmann thrombasthenia-like with macrothrombocytopenia 2	ITGB3	ITGB3	https://raresource.nih.gov/literature/disease/0018273	0018273	619271		C5543280		integrin subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding disorder, platelet-type, 24"	None
Aural atresia, congenital	aural atresia, congenital, with hyposmia//caa	TSHZ1	TSHZ1	https://raresource.nih.gov/literature/disease/0018275	0018275	607842		C1842937	C564321	teashirt zinc finger homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aural atresia, congenital"	3137
Polyposis syndrome, hereditary mixed, 2	bmpr1a hereditary mixed polyposis syndrome//hereditary mixed polyposis syndrome caused by mutation in bmpr1a//polyposis syndrome, hereditary mixed, type 2	BMPR1A	BMPR1A	https://raresource.nih.gov/literature/disease/0018276	0018276	610069		C1864730	C566451	bone morphogenetic protein receptor type 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyposis syndrome, hereditary mixed, 2"	None
Cold-induced sweating syndrome 2	ciss2//clcf1 cold-induced sweating syndrome//clcf1-related cold-induced sweating syndrome including crisponi syndrome//cold-induced sweating syndrome caused by mutation in clcf1//cold-induced sweating syndrome type 2//crisponi/cold-induced sweating syndrome 2	CLCF1	CLCF1	https://raresource.nih.gov/literature/disease/0018277	0018277	610313		C1853198	C564791	cardiotrophin like cytokine factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cold-induced sweating syndrome 2"	2
PERCHING syndrome	ciss3//cold-induced sweating syndrome 3//cold-induced sweating syndrome caused by mutation in klhl7//cold-induced sweating syndrome type 3//kelch like family member 7-related bohring-opitz-like and crisponi/cold-induced sweating-like overlap syndrome//klhl7 (kelch like family member 7) related bohring-opitz-like and crisponi/cold-induced sweating-like overlap syndrome//klhl7 cold-induced sweating syndrome//klhl7-related bohring-opitz-like and crisponi/cold-induced sweating-like overlap syndrome//klhl7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome//perching//postural and palatal abnormalities; exophthalmos and enteral-tube dependency/feeding issues; respiratory distress and retinitis pigmentosa; contractures and camptodactyly; hypertelorism and hirsutism; intrauterine growth retardation (iugr)/growth failure and intellectual disability/developmental delay; nevus flammeus and neurologic malformations;and facial gestalt/grimacing and genitourinary abnormalities	KLHL7	KLHL7	https://raresource.nih.gov/literature/disease/0018278	0018278	617055	603684	C4310742		kelch like family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PERCHING syndrome"	5
Familial temporal lobe epilepsy 5	epilepsy, familial temporal lobe, type 5//etl5//familial temporal lobe epilepsy type 5	CPA6	CPA6	https://raresource.nih.gov/literature/disease/0018280	0018280	614417		C3280730		carboxypeptidase A6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial temporal lobe epilepsy 5"	1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	resdx//rolandic epilepsy, impaired intellectual development, and speech dyspraxia//rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked	SRPX2	SRPX2	https://raresource.nih.gov/literature/disease/0018282	0018282	300643		C1845070	C564467	sushi repeat containing protein X-linked 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked"	None
Febrile seizures, familial, 11	convulsions, familial febrile, 11//feb11	CPA6	CPA6	https://raresource.nih.gov/literature/disease/0018283	0018283	614418		C3280734		carboxypeptidase A6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Febrile seizures, familial, 11"	None
Sick sinus syndrome 2, autosomal dominant	atrial fibrillation with bradyarrhythmia//hcn4 sick sinus syndrome//sick sinus syndrome 2//sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation//sick sinus syndrome caused by mutation in hcn4//sinus bradycardia syndrome, familial, autosomal dominant//sinus node disease, familial, autosomal dominant//sss2	HCN4	HCN4	https://raresource.nih.gov/literature/disease/0018284	0018284	163800		C1834144	C563513	hyperpolarization activated cyclic nucleotide gated potassium channel 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sick sinus syndrome 2, autosomal dominant"	None
Thrombocytopenia 3	thc3//thrombocytopenia, autosomal recessive, 3	FYB1	FYB1	https://raresource.nih.gov/literature/disease/0018288	0018288			C2678311	C567487	FYN binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 3"	None
Thrombocytopenia 4	cycs thrombocytopenia//thc4//thrombocytopenia caused by mutation in cycs//thrombocytopenia type 4//thrombocytopenia, autosomal dominant, 4	CYCS	CYCS	https://raresource.nih.gov/literature/disease/0018289	0018289	612004		C2677608	C567438	cytochrome c, somatic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 4"	9
Complement component 7 deficiency	c7 classic complement early component deficiency//c7 deficiency//c7d//classic complement early component deficiency caused by mutation in c7	C7	C7	https://raresource.nih.gov/literature/disease/0018290	0018290	610102		C1864694	C566443	complement C7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 7 deficiency"	59
Complement component 6 deficiency	c6 classic complement early component deficiency//c6 deficiency//c6d//classic complement early component deficiency caused by mutation in c6	C6	C6	https://raresource.nih.gov/literature/disease/0018291	0018291	612446		C2676232		complement C6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 6 deficiency"	67
Complement component 9 deficiency	c9 classic complement early component deficiency//c9 deficiency//c9d//classic complement early component deficiency caused by mutation in c9	C9	C9	https://raresource.nih.gov/literature/disease/0018292	0018292	613825		C3151189	C565165	complement C9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 9 deficiency"	36
Immunodeficiency 104	autosomal recessive t cell-negative, b-cell negative, nk cell-positive scid//autosomal recessive t cell-negative, b-cell positive, nk cell-positive scid//imd104//immunodeficiency 104, severe combined//scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive//severe combined immune deficiency, autosomal recessive, tcell -negative, b cell-positive, nk cell-positive, cd3d-related//severe combined immune deficiency, autosomal recessive, tcell -negative, b cell-positive, nk cell-positive, cd3e-related//severe combined immune deficiency, autosomal recessive, tcell -negative, b cell-positive, nk cell-positive, il7r-related//severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive//severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive//severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type	IL7R	IL7R	https://raresource.nih.gov/literature/disease/0018293	0018293	608971		C5676890	C563822	interleukin 7 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 104"	None
Immunodeficiency 25	cd247 severe combined immunodeficiency (disease)//cd3zeta deficiency//immunodeficiency due to defect in cd3-zeta, somatic//immunodeficiency type 25//severe combined immunodeficiency (disease) caused by mutation in cd247	CD247	CD247	https://raresource.nih.gov/literature/disease/0018294	0018294	610163		C1857798	C565712	CD247 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 25"	None
Immunodeficiency 18	cd3-epsilon deficiency//cd3epsilon deficiency//imd18//immunodeficiency 18, scid variant//immunodeficiency 18, severe combined immunodeficiency variant//immunodeficiency type 18	CD3E	CD3E	https://raresource.nih.gov/literature/disease/0018295	0018295	615615		C3810127		CD3 epsilon subunit of T-cell receptor complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 18"	2
Immunodeficiency 19	cd3-delta deficiency//cd3d//cd3d severe combined immunodeficiency (disease)//cd3delta deficiency//imd19//immunodeficiency 19, severe combined//immunodeficiency type 19//scid, t cell-negative, b cell-positive, nk cell-positive//severe combined immunodeficiency (disease) caused by mutation in cd3d//severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive	CD3D	CD3D	https://raresource.nih.gov/literature/disease/0018296	0018296	615617		C3810147		CD3 delta subunit of T-cell receptor complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 19"	6
Rajab interstitial lung disease with brain calcifications 1	brain calcification, rajab type//developmental delay, small stature, microcephaly, and brain calcifications//neurodevelopmental disorder with brain, liver, and lung abnormalities//rildbc1	FARSB	FARSB	https://raresource.nih.gov/literature/disease/0018297	0018297	613658	178506	C5436276		phenylalanyl-tRNA synthetase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rajab interstitial lung disease with brain calcifications 1"	None
Rajab interstitial lung disease with brain calcifications 2	rildbc2	FARSA	FARSA	https://raresource.nih.gov/literature/disease/0018298	0018298	619013		C5436603		phenylalanyl-tRNA synthetase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rajab interstitial lung disease with brain calcifications 2"	None
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	imd73c	RAC2	RAC2	https://raresource.nih.gov/literature/disease/0018300	0018300	618987		C5436550		Rac family small GTPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"	None
Orofacial cleft 11	bmp4 orofacial cleft//cleft lip with or without cleft palate, nonsyndromic, 11//ofc11//orofacial cleft 11; ofc11//orofacial cleft caused by mutation in bmp4//orofacial cleft type 11	BMP4	BMP4	https://raresource.nih.gov/literature/disease/0018303	0018303	600625		C2677434		bone morphogenetic protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial cleft 11"	1
Orofacial cleft 5	cleft lip with or without cleft palate, nonsyndromic, 5//msx1 orofacial cleft//ofc5//orofacial cleft caused by mutation in msx1//orofacial cleft type 5	MSX1	MSX1	https://raresource.nih.gov/literature/disease/0018305	0018305	608874		C1837210	C563843	msh homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial cleft 5"	None
Orofacial cleft 10	cleft lip with or without cleft palate, nonsyndromic, 10//ofc10//orofacial cleft 10, isolated cases//orofacial cleft caused by mutation in sumo1//orofacial cleft type 10//sumo1 orofacial cleft	SUMO1	SUMO1	https://raresource.nih.gov/literature/disease/0018306	0018306	613705		C1866070	C566605	small ubiquitin like modifier 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial cleft 10"	None
Orofacial cleft 15	cleft lip/palate caused by mutation in dlx4//dlx4 cleft lip/palate//ofc15//orofacial cleft type 15	DLX4	DLX4	https://raresource.nih.gov/literature/disease/0018307	0018307	616788		C4225209		distal-less homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial cleft 15"	None
Orofacial cleft 8	cleft lip with or without cleft palate, nonsyndromic, 8	TP63	TP63	https://raresource.nih.gov/literature/disease/0018308	0018308	618149		C1851878		tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial cleft 8"	1
Cerebral palsy, spastic quadriplegic, 2	cerebral palsy, spastic quadriplegic, type 2//cpsq2//kank1 spastic quadriplegia//spastic quadriplegia caused by mutation in kank1	KANK1	KANK1	https://raresource.nih.gov/literature/disease/0018309	0018309	612900		C2752061	C567867	KN motif and ankyrin repeat domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral palsy, spastic quadriplegic, 2"	None
Cerebral palsy, spastic quadriplegic, 3	add3 spastic quadriplegia//cerebral palsy, spastic quadriplegic, 3; cpsq3//cerebral palsy, spastic quadriplegic, type 3//cpsq3//spastic quadriplegia caused by mutation in add3	ADD3	ADD3	https://raresource.nih.gov/literature/disease/0018310	0018310	617008		C4310767		adducin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral palsy, spastic quadriplegic, 3"	None
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	growth hormone insensitivity due to postreceptor defect//growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive//laron syndrome due to postreceptor defect//laron syndrome with immunodeficiency//laron-like syndrome//short stature due to stat5b deficiency	STAT5B	STAT5B	https://raresource.nih.gov/literature/disease/0018311	0018311	245590	220465	C5435698	C537871	signal transducer and activator of transcription 5B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	None
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	ghisid2//growth hormone insensitivity with immune dysregulation 2, autosomal dominant	STAT5B	STAT5B	https://raresource.nih.gov/literature/disease/0018312	0018312	618985		C5436546		signal transducer and activator of transcription 5B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant"	None
Cerebral cavernous malformation 2	ccm2//ccm2 familial cerebral cavernous malformation//cerebral cavernous malformation type 2//cerebral cavernous malformations type 2//cerebral cavernous malformations-2//familial cerebral cavernous malformation 2//familial cerebral cavernous malformation caused by mutation in ccm2	CCM2	CCM2	https://raresource.nih.gov/literature/disease/0018313	0018313	603284		C1864041	C566394	CCM2 scaffold protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral cavernous malformation 2"	7
Cerebral cavernous malformation 3	ccm3//cerebral cavernous malformation type 3//cerebral cavernous malformations 3//cerebral cavernous malformations type 3//cerebral cavernous malformations-3//familial cerebral cavernous malformation 3//familial cerebral cavernous malformation caused by mutation in pdcd10//pdcd10 familial cerebral cavernous malformation	PDCD10	PDCD10	https://raresource.nih.gov/literature/disease/0018314	0018314	603285		C1864040	C566393	programmed cell death 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral cavernous malformation 3"	13
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	oieds syndrome 1//oieds1	COL1A1	COL1A1	https://raresource.nih.gov/literature/disease/0018316	0018316	619115		C5436842		collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	None
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	oieds syndrome 2//oieds2	COL1A2	COL1A2	https://raresource.nih.gov/literature/disease/0018317	0018317	619120		C5436847		collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	None
Rhabdoid tumor predisposition syndrome 1	familial posterior fossa brain tumor of infancy//familial rhabdoid tumor caused by mutation in smarcb1//familial rhabdoid tumour caused by mutation in smarcb1//rhabdoid tumor predisposition syndrome type 1//rhabdoid tumors, somatic//rhabdoid tumour predisposition syndrome type 1//rtps1//smarcb1 familial rhabdoid tumor//smarcb1 familial rhabdoid tumour	SMARCB1	SMARCB1	https://raresource.nih.gov/literature/disease/0018318	0018318	609322		C1836327	C563738	SWI/SNF related BAF chromatin remodeling complex subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhabdoid tumor predisposition syndrome 1"	8
Rhabdoid tumor predisposition syndrome 2	familial rhabdoid tumor caused by mutation in smarca4//familial rhabdoid tumour caused by mutation in smarca4//rhabdoid tumor predisposition syndrome type 2//rhabdoid tumour predisposition syndrome type 2//rtps2//smarca4 familial rhabdoid tumor//smarca4 familial rhabdoid tumour	SMARCA4	SMARCA4	https://raresource.nih.gov/literature/disease/0018319	0018319	613325		C2750074	C567643	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhabdoid tumor predisposition syndrome 2"	9
Aneurysm, intracranial berry, 12		THSD1	THSD1	https://raresource.nih.gov/literature/disease/0018330	0018330	618734		C5231484		thrombospondin type 1 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aneurysm, intracranial berry, 12"	None
Hermansky-Pudlak syndrome 1	delta storage pool disease//hermansky-pudlak syndrome caused by mutation in hps1//hermansky-pudlak syndrome type 1//hps1//hps1 hermansky-pudlak syndrome	HPS1	HPS1	https://raresource.nih.gov/literature/disease/0018331	0018331	203300		C2931875	C538539	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 1"	40
Hermansky-Pudlak syndrome 4	hermansky-pudlak syndrome caused by mutation in hps4//hermansky-pudlak syndrome type 4//hps4//hps4 hermansky-pudlak syndrome	HPS4	HPS4	https://raresource.nih.gov/literature/disease/0018332	0018332	614073		C3484357		HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 4"	6
Hermansky-Pudlak syndrome 3	hermansky-pudlak syndrome caused by mutation in hps3//hermansky-pudlak syndrome type 3//hps3//hps3 hermansky-pudlak syndrome	HPS3	HPS3	https://raresource.nih.gov/literature/disease/0018333	0018333	614072		C3888001		HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 3"	12
Hermansky-Pudlak syndrome 5	hermansky-pudlak syndrome caused by mutation in hps5//hermansky-pudlak syndrome type 5//hps5//hps5 hermansky-pudlak syndrome	HPS5	HPS5	https://raresource.nih.gov/literature/disease/0018334	0018334	614074		C3888004		HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 5"	8
Hermansky-Pudlak syndrome 6	hermansky-pudlak syndrome caused by mutation in hps6//hermansky-pudlak syndrome type 6//hps6//hps6 hermansky-pudlak syndrome	HPS6	HPS6	https://raresource.nih.gov/literature/disease/0018335	0018335	614075		C3888007		HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 6"	3
Hermansky-Pudlak syndrome 7	dtnbp1 hermansky-pudlak syndrome//hermansky-pudlak syndrome caused by mutation in dtnbp1//hermansky-pudlak syndrome due to bloc-1 deficiency//hermansky-pudlak syndrome type 7//hps7	DTNBP1	DTNBP1	https://raresource.nih.gov/literature/disease/0018336	0018336	614076	231531	C3279756		dystrobrevin binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 7"	2
Hermansky-Pudlak syndrome 8	bloc1s3 hermansky-pudlak syndrome//hermansky-pudlak syndrome caused by mutation in bloc1s3//hermansky-pudlak syndrome type 8//hps8	BLOC1S3	BLOC1S3	https://raresource.nih.gov/literature/disease/0018337	0018337	614077		C3888026		biogenesis of lysosomal organelles complex 1 subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 8"	None
Hermansky-Pudlak syndrome 9	bloc1s6 hermansky-pudlak syndrome//hermansky-pudlak syndrome caused by mutation in bloc1s6//hermansky-pudlak syndrome type 9//hps9	BLOC1S6	BLOC1S6	https://raresource.nih.gov/literature/disease/0018338	0018338	614171		C3280026		biogenesis of lysosomal organelles complex 1 subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 9"	7
Hermansky-Pudlak syndrome 11	hps11	BLOC1S5	BLOC1S5	https://raresource.nih.gov/literature/disease/0018339	0018339	619172		C5436936		biogenesis of lysosomal organelles complex 1 subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-Pudlak syndrome 11"	None
Hypercholanemia, familial, 2	fhca2//ntcp deficiency	SLC10A1	SLC10A1	https://raresource.nih.gov/literature/disease/0018341	0018341	619256		C5543243		solute carrier family 10 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholanemia, familial, 2"	27
Inflammatory bowel disease 25	early onset autosomal recessive inflammatory bowel disease 25//ibd25//il10rb inflammatory bowel disease//inflammatory bowel disease 25, autosomal recessive//inflammatory bowel disease 25, early onset, autosomal recessive//inflammatory bowel disease caused by mutation in il10rb//inflammatory bowel disease type 25	IL10RB	IL10RB	https://raresource.nih.gov/literature/disease/0018342	0018342	612567		C2675508	C567251	interleukin 10 receptor subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory bowel disease 25"	None
Inflammatory bowel disease 28	early onset autosomal recessive inflammatory bowel disease 28//ibd28//il10ra inflammatory bowel disease//inflammatory bowel disease 28, autosomal recessive//inflammatory bowel disease 28, early onset, autosomal recessive//inflammatory bowel disease caused by mutation in il10ra//inflammatory bowel disease type 28//inflammatory bowel disease, early-onset, autosomal recessive	IL10RA	IL10RA	https://raresource.nih.gov/literature/disease/0018343	0018343	613148		C2751053	C567728	interleukin 10 receptor subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory bowel disease 28"	2
Hypophosphatemic nephrolithiasis/osteoporosis 1	hypophosphatemic nephrolithiasis/osteoporosis type 1//nephrolithiasis/osteoporosis, hypophosphatemic, type 1	SLC34A1	SLC34A1	https://raresource.nih.gov/literature/disease/0018346	0018346	612286		C2676786	C567363	solute carrier family 34 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypophosphatemic nephrolithiasis/osteoporosis 1"	None
Hypophosphatemic nephrolithiasis/osteoporosis 2	hypophosphatemic nephrolithiasis/osteoporosis type 2//nephrolithiasis/osteoporosis, hypophosphatemic, type 2	NHERF1	NHERF1	https://raresource.nih.gov/literature/disease/0018347	0018347	612287		C2676782	C567362	NHERF family PDZ scaffold protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypophosphatemic nephrolithiasis/osteoporosis 2"	None
Pontocerebellar hypoplasia type 2E	non-syndromic pontocerebellar hypoplasia caused by mutation in vps53//vps53 non-syndromic pontocerebellar hypoplasia	VPS53	VPS53	https://raresource.nih.gov/literature/disease/0018348	0018348	615851		C4014488		VPS53 subunit of GARP complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2E"	1
Hyperphosphatasia with intellectual disability syndrome 1	glycosylphosphatidylinositol biosynthesis defect 2//hpmrs1//hyperphosphatasia with impaired intellectual development syndrome 1//hyperphosphatasia with intellectual disability syndrome type 1//hyperphosphatasia with mental retardation syndrome 1//hyperphosphatasia with mental retardation syndrome type 1//hyperphosphatasia-intellectual disability syndrome caused by mutation in pigv//pigv hyperphosphatasia-intellectual disability syndrome	PIGV	PIGV	https://raresource.nih.gov/literature/disease/0018349	0018349	239300		C4551502		phosphatidylinositol glycan anchor biosynthesis class V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia with intellectual disability syndrome 1"	2
Hyperphosphatasia with intellectual disability syndrome 3	glycosylphosphatidylinositol biosynthesis defect 8//hpmrs3//hyperphosphatasia with impaired intellectual development syndrome 3//hyperphosphatasia with intellectual disability syndrome type 3//hyperphosphatasia with mental retardation syndrome 3//hyperphosphatasia with mental retardation syndrome type 3//hyperphosphatasia-intellectual disability syndrome caused by mutation in pgap2//pgap2 hyperphosphatasia-intellectual disability syndrome	PGAP2	PGAP2	https://raresource.nih.gov/literature/disease/0018350	0018350	614207		C3280153		post-GPI attachment to proteins 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia with intellectual disability syndrome 3"	4
Hyperphosphatasia with intellectual disability syndrome 2	glycosylphosphatidylinositol biosynthesis defect 6//hpmrs2//hyperphosphatasia with impaired intellectual development syndrome 2//hyperphosphatasia with intellectual disability syndrome type 2//hyperphosphatasia with mental retardation syndrome 2//hyperphosphatasia with mental retardation syndrome type 2//hyperphosphatasia-intellectual disability syndrome caused by mutation in pigo//pigo hyperphosphatasia-intellectual disability syndrome	PIGO	PIGO	https://raresource.nih.gov/literature/disease/0018351	0018351	614749		C3553637		phosphatidylinositol glycan anchor biosynthesis class O	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia with intellectual disability syndrome 2"	2
Hyperphosphatasia with intellectual disability syndrome 4	glycosylphosphatidylinositol biosynthesis defect 10//hpmrs4//hyperphosphatasia with impaired intellectual development syndrome 4//hyperphosphatasia with intellectual disability syndrome type 4//hyperphosphatasia with mental retardation syndrome 4//hyperphosphatasia with mental retardation syndrome type 4//hyperphosphatasia-intellectual disability syndrome caused by mutation in pgap3//pgap3 hyperphosphatasia-intellectual disability syndrome	PGAP3	PGAP3	https://raresource.nih.gov/literature/disease/0018352	0018352	615716		C3810354		post-GPI attachment to proteins phospholipase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia with intellectual disability syndrome 4"	5
Hyperphosphatasia with intellectual disability syndrome 5	glycosylphosphatidylinositol biosynthesis defect 11//gpibd11//hyperphosphatasia with intellectual disability syndrome type 5//hyperphosphatasia with mental retardation syndrome 5//hyperphosphatasia with mental retardation syndrome type 5//hyperphosphatasia-intellectual disability syndrome caused by mutation in pigw//pigw hyperphosphatasia-intellectual disability syndrome	PIGW	PIGW	https://raresource.nih.gov/literature/disease/0018353	0018353	616025		C4014958		phosphatidylinositol glycan anchor biosynthesis class W	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia with intellectual disability syndrome 5"	2
Hyperphosphatasia with intellectual disability syndrome 6	glycosylphosphatidylinositol biosynthesis defect 12//hpmrs6//hyperphosphatasia with impaired intellectual development syndrome 6//hyperphosphatasia with intellectual disability syndrome 6; hpmrs6//hyperphosphatasia with intellectual disability syndrome type 6//hyperphosphatasia with mental retardation syndrome 6//hyperphosphatasia with mental retardation syndrome type 6//hyperphosphatasia-intellectual disability syndrome caused by mutation in pigy//pigy hyperphosphatasia-intellectual disability syndrome	PIGY	PIGY	https://raresource.nih.gov/literature/disease/0018354	0018354	616809		C4225201		phosphatidylinositol glycan anchor biosynthesis class Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperphosphatasia with intellectual disability syndrome 6"	None
Erythrocytosis, familial, 3	ecyt3//egln1 familial polycythemia//erythrocytosis, familial, type 3//familial polycythemia caused by mutation in egln1	EGLN1	EGLN1	https://raresource.nih.gov/literature/disease/0018355	0018355	609820		C1853286	C565221	egl-9 family hypoxia inducible factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrocytosis, familial, 3"	1
Erythrocytosis, familial, 4	ecyt4//epas1 familial polycythemia//erythrocytosis, familial, type 4//familial polycythemia caused by mutation in epas1	EPAS1	EPAS1	https://raresource.nih.gov/literature/disease/0018356	0018356	611783		C2673187	C567086	endothelial PAS domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrocytosis, familial, 4"	1
Fibromatosis, gingival, 5	fibromatosis, gingival, hereditary, 5	REST	REST	https://raresource.nih.gov/literature/disease/0018357	0018357	617626		C4539942		RE1 silencing transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 5"	None
Stickler syndrome, type 4	autosomal recessive stickler syndrome caused by mutation in col9a1//col9a1 autosomal recessive stickler syndrome//col9a1-related stickler syndrome//stl4	COL9A1	COL9A1	https://raresource.nih.gov/literature/disease/0018358	0018358	614134		C3279941		collagen type IX alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome, type 4"	None
Stickler syndrome, type 5	autosomal recessive stickler syndrome caused by mutation in col9a2//col9a2 autosomal recessive stickler syndrome//col9a2-related stickler syndrome//stl5	COL9A2	COL9A2	https://raresource.nih.gov/literature/disease/0018359	0018359	614284		C3280342		collagen type IX alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome, type 5"	None
Testicular anomalies with or without congenital heart disease	tachd	GATA4	GATA4	https://raresource.nih.gov/literature/disease/0018360	0018360	615542		C3809858		GATA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Testicular anomalies with or without congenital heart disease"	None
46,XY sex reversal 9	46,xy sex reversal type 9//46,xy sex reversal, zfpm2-related//srxy9	ZFPM2	ZFPM2	https://raresource.nih.gov/literature/disease/0018361	0018361	616067		C4015129		zinc finger protein, FOG family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 9"	None
Mismatch repair cancer syndrome 2	mmrcs2//msh2-related constitutional mismatch repair deficiency syndrome	MSH2	MSH2	https://raresource.nih.gov/literature/disease/0018362	0018362	619096		C5436806		mutS homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mismatch repair cancer syndrome 2"	None
Mismatch repair cancer syndrome 3	mmrcs3//msh6-related constitutional mismatch repair deficiency syndrome	MSH6	MSH6	https://raresource.nih.gov/literature/disease/0018363	0018363	619097		C5436807		mutS homolog 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mismatch repair cancer syndrome 3"	None
Mismatch repair cancer syndrome 4	mmrcs4//pms2-related constitutional mismatch repair deficiency syndrome	PMS2	PMS2	https://raresource.nih.gov/literature/disease/0018364	0018364	619101		C5436817		PMS1 homolog 2, mismatch repair system component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mismatch repair cancer syndrome 4"	1
Hydatidiform mole, recurrent, 1	complete hydatidiform mole caused by mutation in nlrp7//hydatidiform mole, recurrent, type 1//hydm1//nlrp7 complete hydatidiform mole	NLRP7	NLRP7	https://raresource.nih.gov/literature/disease/0018365	0018365	231090		C3463897		NLR family pyrin domain containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydatidiform mole, recurrent, 1"	2
Hydatidiform mole, recurrent, 2	complete hydatidiform mole caused by mutation in khdc3l//hydatidiform mole, recurrent, type 2//hydm2//khdc3l complete hydatidiform mole	KHDC3L	KHDC3L	https://raresource.nih.gov/literature/disease/0018366	0018366	614293		C3280352		KH domain containing 3 like, subcortical maternal complex member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydatidiform mole, recurrent, 2"	None
Hydatidiform mole, recurrent, 3		MEI1	MEI1	https://raresource.nih.gov/literature/disease/0018367	0018367	618431		C5193093		meiotic double-stranded break formation protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydatidiform mole, recurrent, 3"	None
Hydatidiform mole, recurrent, 4		TOP6BL	TOP6BL	https://raresource.nih.gov/literature/disease/0018368	0018368	618432		C5193094		TOP6B like initiator of meiotic double strand breaks	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydatidiform mole, recurrent, 4"	None
Mitochondrial DNA depletion syndrome 19		SLC25A10	SLC25A10	https://raresource.nih.gov/literature/disease/0018370	0018370	618972		C5436514		solute carrier family 25 member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 19"	None
Mitochondrial complex I deficiency, nuclear type 13	mitochondrial complex 1 deficiency, nuclear type 13	NDUFA2	NDUFA2	https://raresource.nih.gov/literature/disease/0018371	0018371	618235		C4748770		NADH:ubiquinone oxidoreductase subunit A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 13"	None
Mitochondrial complex I deficiency, nuclear type 17	mitochondrial complex 1 deficiency, nuclear type 17	NDUFAF6	NDUFAF6	https://raresource.nih.gov/literature/disease/0018372	0018372	618239		C4748786		NADH:ubiquinone oxidoreductase complex assembly factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 17"	None
Mitochondrial complex I deficiency, nuclear type 22	mitochondrial complex 1 deficiency, nuclear type 22	NDUFA10	NDUFA10	https://raresource.nih.gov/literature/disease/0018373	0018373	618243		C4748796		NADH:ubiquinone oxidoreductase subunit A10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 22"	None
Mitochondrial complex I deficiency, nuclear type 23	mitochondrial complex 1 deficiency, nuclear type 23	NDUFA12	NDUFA12	https://raresource.nih.gov/literature/disease/0018374	0018374	618244		C4748799		NADH:ubiquinone oxidoreductase subunit A12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 23"	None
Mitochondrial complex I deficiency, nuclear type 27	mitochondrial complex 1 deficiency, nuclear type 27	MTFMT	MTFMT	https://raresource.nih.gov/literature/disease/0018375	0018375	618248		C4748826		mitochondrial methionyl-tRNA formyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 27"	None
Mitochondrial complex I deficiency, nuclear type 28	mitochondrial complex 1 deficiency, nuclear type 28	NDUFA13	NDUFA13	https://raresource.nih.gov/literature/disease/0018376	0018376	618249		C4748827		NADH:ubiquinone oxidoreductase subunit A13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 28"	None
Hearing loss, autosomal recessive 112	deafness, autosomal recessive 112	BDP1	BDP1	https://raresource.nih.gov/literature/disease/0018377	0018377	618257		C4748855		BDP1 general transcription factor IIIB subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 112"	None
Coenzyme Q10 deficiency, primary, 1	aptx-related coenzyme q10 deficiency//coenzyme q deficiency 1//coenzyme q10 deficiency caused by mutation in coq2//coenzyme q10 deficiency, primary, type 1//coq deficiency 1//coq2 coenzyme q10 deficiency//coq2-related coenzyme q10 deficiency//ubiquinone deficiency 1	COQ2	COQ2	https://raresource.nih.gov/literature/disease/0018378	0018378	607426		C3551954		coenzyme Q2, polyprenyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coenzyme Q10 deficiency, primary, 1"	None
Coenzyme Q10 deficiency, primary, 3	coenzyme q10 deficiency caused by mutation in pdss2//coenzyme q10 deficiency, primary, type 3//coq10d3//pdss2 coenzyme q10 deficiency//pdss2-related coenzyme q10 deficiency	PDSS2	PDSS2	https://raresource.nih.gov/literature/disease/0018379	0018379	614652		C3553358		decaprenyl diphosphate synthase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coenzyme Q10 deficiency, primary, 3"	None
Autosomal dominant sideroblastic anemia	anemia, sideroblastic, 4//sideroblastic anemia, autosomal dominant	HSPA9	HSPA9	https://raresource.nih.gov/literature/disease/0018380	0018380	182170		C4225428	C567160	heat shock protein family A (Hsp70) member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant sideroblastic anemia"	None
Sideroblastic anemia 2	anemia, sideroblastic, 2, pyridoxine-refractory	SLC25A38	SLC25A38	https://raresource.nih.gov/literature/disease/0018381	0018381	205950		C4225425	C567145	solute carrier family 25 member 38	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sideroblastic anemia 2"	4
Kleefstra syndrome 2	klefs2	KMT2C	KMT2C	https://raresource.nih.gov/literature/disease/0018382	0018382	617768		C4540395		lysine methyltransferase 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kleefstra syndrome 2"	11
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	mrcs1	ARL2	ARL2	https://raresource.nih.gov/literature/disease/0018383	0018383	619082		C5436769		ARF like GTPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"	None
Familial meningioma	hereditary meningioma//hereditary meningioma (disease)//meningioma, familial, susceptibility to//meningioma, nf2-related, somatic//meningioma, sis-related	PDGFB;SUFU;NF2;MN1;SMARCE1;PTEN	PDGFB;SUFU;NF2;MN1;SMARCE1;PTEN	https://raresource.nih.gov/literature/disease/0018385	0018385	607174		C3551915	C537443	platelet derived growth factor subunit B; SUFU negative regulator of hedgehog signaling; NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor; MN1 proto-oncogene, transcriptional regulator; SWI/SNF related BAF chromatin remodeling complex subunit E1; phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial meningioma"	10
Glycogen storage disease IXa1	glycogen storage disease 8//glycogen storage disease caused by mutation in phka2//glycogen storage disease type viii//glycogen storage disease viii//glycogen storage disease, type ixa1, x-linked recessive//glycogen storage disease, type ixa2, x-linked recessive//glycogenosis type viii//gsd viii//gsd9a//hepatic glycogen phosphorylase kinase deficiency//liver glycogenosis, x-linked, type i//phka2 glycogen storage disease//phka2-related glycogen storage disease type ix//phka2-related phosphorylase kinase deficiency//x-linked liver glycogenosis type 1//x-linked liver glycogenosis type 2	PHKA2	PHKA2	https://raresource.nih.gov/literature/disease/0018386	0018386	306000		C3694531	C564421;D006015	phosphorylase kinase regulatory subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease IXa1"	10
Glycogen storage disease IXc	glycogen storage disease caused by mutation in phkg2//gsd ixc//gsd9c//phkg2 glycogen storage disease//phkg2-related glycogen storage disease type ix//phkg2-related phosphorylase kinase deficiency	PHKG2	PHKG2	https://raresource.nih.gov/literature/disease/0018387	0018387	613027		C2751643	C567809	phosphorylase kinase catalytic subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease IXc"	7
Maple syrup urine disease, mild variant	msudmv	PPM1K	PPM1K	https://raresource.nih.gov/literature/disease/0018388	0018388	615135		C3554575		protein phosphatase, Mg2+/Mn2+ dependent 1K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maple syrup urine disease, mild variant"	None
Preeclampsia/eclampsia 1	pee1//preg1	NOS3	NOS3	https://raresource.nih.gov/literature/disease/0018389	0018389			C5574918		nitric oxide synthase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Preeclampsia/eclampsia 1"	None
Preeclampsia/eclampsia 4	pee4//preeclampsia caused by mutation in stox1//preeclampsia/eclampsia type 4//stox1 preeclampsia	STOX1	STOX1	https://raresource.nih.gov/literature/disease/0018392	0018392	609404		C1836255	C563724	storkhead box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Preeclampsia/eclampsia 4"	None
Preeclampsia/eclampsia 5	corin preeclampsia//pee5//preeclampsia caused by mutation in corin//preeclampsia/eclampsia type 5	CORIN	CORIN	https://raresource.nih.gov/literature/disease/0018393	0018393	614595		C3281288		corin, serine peptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Preeclampsia/eclampsia 5"	None
Pulmonary hypertension, primary, 2	primary pulmonary hypertension caused by mutation in smad9//pulmonary hypertension, primary, type 2//smad9 primary pulmonary hypertension	SMAD9	SMAD9	https://raresource.nih.gov/literature/disease/0018394	0018394	615342		C3888002		SMAD family member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary hypertension, primary, 2"	None
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	ftdals8	CYLD	CYLD	https://raresource.nih.gov/literature/disease/0018395	0018395	619132		C5436881		CYLD lysine 63 deubiquitinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 8"	None
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	alsftd//amyotrophic lateral sclerosis and/or frontotemporal dementia//c9orf72 frontotemporal dementia with motor neuron disease//frontotemporal dementia and/or amyotrophic lateral sclerosis type 1//frontotemporal dementia and/or motor neuron disease//frontotemporal dementia with motor neuron disease 1//frontotemporal dementia with motor neuron disease caused by mutation in c9orf72//ftdals1//ftdmnd	C9orf72	C9orf72	https://raresource.nih.gov/literature/disease/0018396	0018396	105550		C5779877		C9orf72-SMCR8 complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	8
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	chchd10-related frontotemporal dementia/amyotrophic lateral sclerosis//frontotemporal dementia and/or amyotrophic lateral sclerosis type 2//ftdals2	CHCHD10	CHCHD10	https://raresource.nih.gov/literature/disease/0018397	0018397	615911		C4014648		coiled-coil-helix-coiled-coil-helix domain containing 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	None
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	frontotemporal dementia and/or amyotrophic lateral sclerosis type 4//ftdals4	TBK1	TBK1	https://raresource.nih.gov/literature/disease/0018398	0018398	616439		C4225325		TANK binding kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	None
Spermatogenic failure 3	azoospermia caused by mutation in slc26a8//slc26a8 azoospermia//spermatogenic failure type 3//spgf3	SLC26A8	SLC26A8	https://raresource.nih.gov/literature/disease/0018399	0018399	606766		C4721889	C564665	solute carrier family 26 member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 3"	None
Spermatogenic failure 7	male infertility, nonsyndromic, autosomal recessive//spermatogenic failure type 7	CATSPER1	CATSPER1	https://raresource.nih.gov/literature/disease/0018400	0018400	612997		C2751811	C567832	cation channel sperm associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 7"	None
Spermatogenic failure 10	azoospermia caused by mutation in sept12//sept12 azoospermia//spermatogenic failure 10, susceptibility to//spermatogenic failure type 10//spermatogenic failure with defective sperm annulus//spgf10	SEPTIN12	SEPTIN12	https://raresource.nih.gov/literature/disease/0018401	0018401	614822		C3553793		septin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 10"	None
Spermatogenic failure 18		DNAH1	DNAH1	https://raresource.nih.gov/literature/disease/0018402	0018402	617576		C4539783		dynein axonemal heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 18"	None
Spermatogenic failure 19		CFAP43	CFAP43	https://raresource.nih.gov/literature/disease/0018403	0018403	617592		C4539818		cilia and flagella associated protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 19"	None
Spermatogenic failure 20		CFAP44	CFAP44	https://raresource.nih.gov/literature/disease/0018404	0018404	617593		C4539824		cilia and flagella associated protein 44	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 20"	None
Spermatogenic failure 27		AK7	AK7	https://raresource.nih.gov/literature/disease/0018405	0018405	617965		C4693784		adenylate kinase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 27"	None
Spermatogenic failure 33		CFAP251	CFAP251	https://raresource.nih.gov/literature/disease/0018406	0018406	618152		C4748395		cilia and flagella associated protein 251	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 33"	None
Spermatogenic failure 34		FSIP2	FSIP2	https://raresource.nih.gov/literature/disease/0018407	0018407	618153		C4748403		fibrous sheath interacting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 34"	None
Spermatogenic failure 37		TTC21A	TTC21A	https://raresource.nih.gov/literature/disease/0018408	0018408	618429		C5193091		tetratricopeptide repeat domain 21A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 37"	None
Spermatogenic failure 38		ARMC2	ARMC2	https://raresource.nih.gov/literature/disease/0018409	0018409	618433		C5193095		armadillo repeat containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 38"	None
Spermatogenic failure 39		DNAH17	DNAH17	https://raresource.nih.gov/literature/disease/0018410	0018410	618643		C5231438		dynein axonemal heavy chain 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 39"	None
Spermatogenic failure 40		CFAP65	CFAP65	https://raresource.nih.gov/literature/disease/0018411	0018411	618664		C5231451		cilia and flagella associated protein 65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 40"	None
Spermatogenic failure 41		CFAP70	CFAP70	https://raresource.nih.gov/literature/disease/0018412	0018412	618670		C5231455		cilia and flagella associated protein 70	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 41"	None
Spermatogenic failure 42		TTC29	TTC29	https://raresource.nih.gov/literature/disease/0018413	0018413	618745		C5231488		tetratricopeptide repeat domain 29	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 42"	None
Spermatogenic failure 43		SPEF2	SPEF2	https://raresource.nih.gov/literature/disease/0018414	0018414	618751		C5231490		sperm flagellar 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure 43"	None
Vitamin D hydroxylation-deficient rickets, type 1B	cyp2r1 vitamin d-dependent rickets, type 1//pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency//rickets due to defect in vitamin d 25-hydroxylation deficiency//vitam d hydroxylation-deficient rickets type 1b//vitamin d 25-hydroxylase deficiency//vitamin d-dependent rickets, type 1 caused by mutation in cyp2r1//vitamin d-dependent rickets, type 1b	CYP2R1	CYP2R1	https://raresource.nih.gov/literature/disease/0018415	0018415	600081		C1838657	C564005	cytochrome P450 family 2 subfamily R member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin D hydroxylation-deficient rickets, type 1B"	7
Hypophosphatemic rickets, autosomal recessive, 1	arhr1//autosomal recessive hypophosphatemic rickets caused by mutation in dmp1//dmp1 autosomal recessive hypophosphatemic rickets//hypophosphatemia, autosomal recessive//hypophosphatemic rickets, ar//hypophosphatemic rickets, autosomal recessive, type 1	DMP1	DMP1	https://raresource.nih.gov/literature/disease/0018416	0018416	241520		C4551495	C562792	dentin matrix acidic phosphoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypophosphatemic rickets, autosomal recessive, 1"	4
Hypophosphatemic rickets, autosomal recessive, 2	arhr2//autosomal recessive hypophosphatemic rickets caused by mutation in enpp1//autosomal recessive hypophosphatemic rickets type 2//enpp1 autosomal recessive hypophosphatemic rickets//hypophosphatemic rickets, autosomal recessive, type 2	ENPP1	ENPP1	https://raresource.nih.gov/literature/disease/0018417	0018417	613312		C2750078	C567647	ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypophosphatemic rickets, autosomal recessive, 2"	31
Vesicoureteral reflux 2	robo2 vesicoureteral reflux (disease)//vesicoureteral reflux (disease) caused by mutation in robo2//vesicoureteral reflux type 2//vur2	ROBO2	ROBO2	https://raresource.nih.gov/literature/disease/0018419	0018419	610878		C1970483	C567053	roundabout guidance receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vesicoureteral reflux 2"	None
Vesicoureteral reflux 3	sox17 vesicoureteral reflux (disease)//vesicoureteral reflux (disease) caused by mutation in sox17//vesicoureteral reflux type 3//vur3	SOX17	SOX17	https://raresource.nih.gov/literature/disease/0018420	0018420	613674		C3150927		SRY-box transcription factor 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vesicoureteral reflux 3"	None
Vesicoureteral reflux 8	tnxb vesicoureteral reflux (disease)//vesicoureteral reflux (disease) caused by mutation in tnxb//vesicoureteral reflux type 8//vur8	TNXB	TNXB	https://raresource.nih.gov/literature/disease/0018425	0018425	615963		C4014831		tenascin XB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vesicoureteral reflux 8"	None
Peeling skin syndrome 4	csta peeling skin syndrome//ichthyosis bullosa of siemens-like//peeling skin syndrome caused by mutation in csta//peeling skin syndrome type 4//pss4	CSTA	CSTA	https://raresource.nih.gov/literature/disease/0018426	0018426	607936		C4225407	C564309	cystatin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peeling skin syndrome 4"	None
Peeling skin syndrome 5	peeling skin syndrome 5; pss5//peeling skin syndrome caused by mutation in serpinb8//peeling skin syndrome type 5//pss5//serpinb8 peeling skin syndrome	SERPINB8	SERPINB8	https://raresource.nih.gov/literature/disease/0018427	0018427	617115		C4310710		serpin family B member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peeling skin syndrome 5"	None
3MC syndrome 2	3mc syndrome caused by mutation in colec11//3mc syndrome type 2//colec11 3mc syndrome//oculo-skeletal-abdominal syndrome//osa syndrome//ptosis of eyelids with diastasis recti and hip dysplasia	COLEC11	COLEC11	https://raresource.nih.gov/literature/disease/0018428	0018428	265050		C0796279	C535586	collectin subfamily member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3MC syndrome 2"	162
Inflammatory skin and bowel disease, neonatal, 1	adam17 neonatal inflammatory skin and bowel disease//inflammatory skin and bowel disease, neonatal, type 1//neonatal inflammatory skin and bowel disease caused by mutation in adam17	ADAM17	ADAM17	https://raresource.nih.gov/literature/disease/0018429	0018429	614328		C3280501		ADAM metallopeptidase domain 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory skin and bowel disease, neonatal, 1"	None
Inflammatory skin and bowel disease, neonatal, 2	egfr neonatal inflammatory skin and bowel disease//inflammatory skin and bowel disease, neonatal, type 2//neonatal inflammatory skin and bowel disease caused by mutation in egfr//nncis	EGFR	EGFR	https://raresource.nih.gov/literature/disease/0018430	0018430	616069		C4015130		epidermal growth factor receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory skin and bowel disease, neonatal, 2"	None
Renal-hepatic-pancreatic dysplasia 1	nphp3 renal-hepatic-pancreatic dysplasia//renal-hepatic-pancreatic dysplasia caused by mutation in nphp3//renal-hepatic-pancreatic dysplasia type 1//rhpd1	NPHP3	NPHP3	https://raresource.nih.gov/literature/disease/0018431	0018431	208540		C3715199		nephrocystin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal-hepatic-pancreatic dysplasia 1"	4
Renal-hepatic-pancreatic dysplasia 2	nek8 renal-hepatic-pancreatic dysplasia//renal-hepatic-pancreatic dysplasia caused by mutation in nek8//renal-hepatic-pancreatic dysplasia type 2//rhpd2	NEK8	NEK8	https://raresource.nih.gov/literature/disease/0018432	0018432	615415		C3809434		NIMA related kinase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal-hepatic-pancreatic dysplasia 2"	2
X-linked acrogigantism due to Xq26 microduplication	chromosome xq26 microduplication syndrome//chromosome xq26.3 duplication syndrome//chromosome xq26.3 duplication syndrome, x-linked dominant//familial infantile gigantism due to dup(x)q(26)//familial infantile gigantism due to xq26 microduplication//x-lag (x-linked acrogigantism) due to dup(x)q(26)//x-lag (x-linked acrogigantism) due to xq26 microduplication//x-linked acrogigantism	GPR101	GPR101	https://raresource.nih.gov/literature/disease/0018433	0018433	300942		C3891556		G protein-coupled receptor 101	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked acrogigantism due to Xq26 microduplication"	45
Hypercalcemia, infantile, 1	autosomal recessive infantile hypercalcemia 1//hcinf1	CYP24A1	CYP24A1	https://raresource.nih.gov/literature/disease/0018434	0018434	143880		C4310232		cytochrome P450 family 24 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercalcemia, infantile, 1"	7
Hypercalcemia, infantile, 2	autosomal recessive infantile hypercalcemia caused by mutation in slc34a1//hcinf2//hypercalcemia, infantile, type 2//slc34a1 autosomal recessive infantile hypercalcemia	SLC34A1	SLC34A1	https://raresource.nih.gov/literature/disease/0018435	0018435	616963		C4310473		solute carrier family 34 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercalcemia, infantile, 2"	None
Facial paresis, hereditary congenital, 3	congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in hoxb1//facial paresis, hereditary congenital, type 3//hoxb1 congenital hereditary facial paralysis-variable hearing loss syndrome	HOXB1	HOXB1	https://raresource.nih.gov/literature/disease/0018437	0018437	614744		C3553625		homeobox B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facial paresis, hereditary congenital, 3"	None
Microcephaly, epilepsy, and diabetes syndrome 1	meds1//primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	IER3IP1	IER3IP1	https://raresource.nih.gov/literature/disease/0018438	0018438	614231	306558	CN305347		immediate early response 3 interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, epilepsy, and diabetes syndrome 1"	3
Microcephaly, epilepsy, and diabetes syndrome 2	meds2	YIPF5	YIPF5	https://raresource.nih.gov/literature/disease/0018439	0018439	619278		C5543294		Yip1 domain family member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, epilepsy, and diabetes syndrome 2"	None
Episodic pain syndrome, familial, 2	episodic pain syndrome, familial, type 2//familial episodic pain syndrome caused by mutation in scn10a//feps2//scn10a familial episodic pain syndrome	SCN10A	SCN10A	https://raresource.nih.gov/literature/disease/0018440	0018440	615551		C3809893		sodium voltage-gated channel alpha subunit 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic pain syndrome, familial, 2"	None
Cerebroretinal microangiopathy with calcifications and cysts 1	coats plus syndrome caused by mutation in ctc1//crmcc1//ctc1 coats plus syndrome	CTC1	CTC1	https://raresource.nih.gov/literature/disease/0018441	0018441			C4552029		CST telomere replication complex component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebroretinal microangiopathy with calcifications and cysts 1"	None
Cerebroretinal microangiopathy with calcifications and cysts 2	cerebroretinal microangiopathy with calcifications and cysts type 2//coats plus syndrome caused by mutation in stn1//crmcc2//stn1 coats plus syndrome	STN1	STN1	https://raresource.nih.gov/literature/disease/0018442	0018442	617341		C4479220		STN1 subunit of CST complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebroretinal microangiopathy with calcifications and cysts 2"	None
Neuronopathy, distal hereditary motor, autosomal recessive 7	hmnmyo//neuropathy, distal hereditary motor, autosomal recessive 7//neuropathy, hereditary motor, with myopathic features	VWA1	VWA1	https://raresource.nih.gov/literature/disease/0018444	0018444	619216		C5543119		von Willebrand factor A domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 7"	None
Renal cell carcinoma, Xp11-associated	rccx1//renal cell carcinoma, papillary, 1	TFE3	TFE3	https://raresource.nih.gov/literature/disease/0018445	0018445	300854		C3275446		transcription factor binding to IGHM enhancer 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal cell carcinoma, Xp11-associated"	None
Proteasome-associated autoinflammatory syndrome 3	proteasome-associated autoinflammatory syndrome 3 and digenic forms	PSMB4	PSMB4	https://raresource.nih.gov/literature/disease/0018446	0018446	617591		C4747850		proteasome 20S subunit beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 3"	None
Proteasome-associated autoinflammatory syndrome 2		POMP	POMP	https://raresource.nih.gov/literature/disease/0018447	0018447	618048		C4747989		proteasome maturation protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 2"	2
Proteasome-associated autoinflammatory syndrome 5	praas5	PSMB10	PSMB10	https://raresource.nih.gov/literature/disease/0018448	0018448	619175		C5543027		proteasome 20S subunit beta 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 5"	None
Proteasome-associated autoinflammatory syndrome 4	praas4	PSMG2	PSMG2	https://raresource.nih.gov/literature/disease/0018449	0018449	619183		C5543053		proteasome assembly chaperone 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 4"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	peob2//progressive external ophthalmoplegia with mitochondrial dna deletions caused by mutation in rnaseh1//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive type 2//progressive external ophthalmoplegia, autosomal recessive 2//rnaseh1 progressive external ophthalmoplegia with mitochondrial dna deletions	RNASEH1	RNASEH1	https://raresource.nih.gov/literature/disease/0018450	0018450	616479		C4225312		ribonuclease H1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"	None
Congenital myasthenic syndrome 12	cms12//congenital myasthenia 12 with tubular aggregates//congenital myasthenic syndrome type 12//congenital myasthenic syndromes with glycosylation defect caused by mutation in gfpt1//gfpt1 congenital myasthenic syndromes with glycosylation defect//myasthenia, congenital, 12, with tubular aggregates//myasthenic syndrome, congenital, type 12//myasthenic syndrome, congenital, with tubular aggregates 1	GFPT1	GFPT1	https://raresource.nih.gov/literature/disease/0018451	0018451	610542		C3552335		glutamine--fructose-6-phosphate transaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 12"	None
Congenital myasthenic syndrome 13	cms13//cmsta2//congenital myasthenic syndrome 13 with tubular aggregates//congenital myasthenic syndrome type 13//congenital myasthenic syndrome with tubular aggregates 2//congenital myasthenic syndromes with glycosylation defect caused by mutation in dpagt1//dpagt1 congenital myasthenic syndromes with glycosylation defect//myasthenic syndrome, congenital, 13, with tubular aggregates//myasthenic syndrome, congenital, type 13//myasthenic syndrome, congenital, with tubular aggregates 2	DPAGT1	DPAGT1	https://raresource.nih.gov/literature/disease/0018452	0018452	614750		C3553645		dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 13"	None
Congenital myasthenic syndrome 15	alg14 congenital myasthenic syndrome//cms15//congenital myasthenic syndrome 15 without tubular aggregates//congenital myasthenic syndrome caused by mutation in alg14//congenital myasthenic syndrome type 15//myasthenic syndrome, congenital, 15, without tubular aggregates//myasthenic syndrome, congenital, type 15	ALG14	ALG14	https://raresource.nih.gov/literature/disease/0018453	0018453	616227		C4015596		ALG14 UDP-N-acetylglucosaminyltransferase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 15"	None
Congenital myasthenic syndrome 14	alg2 congenital myasthenic syndromes with glycosylation defect//cms14//cmsta3//congenital myasthenic syndrome 14, with tubular aggregates//congenital myasthenic syndrome type 14//congenital myasthenic syndrome with tubular aggregates 3//congenital myasthenic syndromes with glycosylation defect caused by mutation in alg2//myasthenic syndrome, congenital, 14, with tubular aggregates//myasthenic syndrome, congenital, type 14	ALG2	ALG2	https://raresource.nih.gov/literature/disease/0018454	0018454	616228		C4015597		ALG2 alpha-1,3/1,6-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 14"	None
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	congenital muscular dystrophy-pomgnt1 related//mddgb3//muscular dystrophy, congenital, pomgnt1-related//muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3	POMGNT1	POMGNT1	https://raresource.nih.gov/literature/disease/0018455	0018455	613151		C3150412		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3"	None
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	congenital muscular dystrophy-fktn related//fktn-related muscle diseases//mddgb4//muscular dystrophy, congenital, fktn-related//muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4	FKTN	FKTN	https://raresource.nih.gov/literature/disease/0018456	0018456	613152		C2751052		fukutin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4"	None
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in nalcn//innfd//nalcn hypotonia, infantile, with psychomotor retardation and characteristic facies	NALCN	NALCN	https://raresource.nih.gov/literature/disease/0018457	0018457	615419		C3809454		sodium leak channel, non-selective	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia, infantile, with psychomotor retardation and characteristic facies 1"	None
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	hypotonia, infantile, with psychomotor retardation and characteristic facies 2; ihprf2//hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in unc80//hypotonia, infantile, with psychomotor retardation and characteristic facies type 2//ihprf2//unc80 hypotonia, infantile, with psychomotor retardation and characteristic facies	UNC80	UNC80	https://raresource.nih.gov/literature/disease/0018458	0018458	616801		C4225203		unc-80 homolog, NALCN channel complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	3
Microcephaly, short stature, and impaired glucose metabolism 1	mssgm1	TRMT10A	TRMT10A	https://raresource.nih.gov/literature/disease/0018459	0018459	616033		C4014997		tRNA methyltransferase 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, short stature, and impaired glucose metabolism 1"	None
Microcephaly, short stature, and impaired glucose metabolism 2	microcephaly, short stature, and impaired glucose metabolism 2; mssgm2//microcephaly, short stature, and impaired glucose metabolism caused by mutation in ppp1r15b//microcephaly, short stature, and impaired glucose metabolism type 2//mssgm2//ppp1r15b microcephaly, short stature, and impaired glucose metabolism	PPP1R15B	PPP1R15B	https://raresource.nih.gov/literature/disease/0018460	0018460	616817		C4225195		protein phosphatase 1 regulatory subunit 15B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, short stature, and impaired glucose metabolism 2"	None
Juvenile onset Parkinson disease 19A	dnajc6 parkinson disease//juvenile onset parkinson disease type 19a//park19//parkinson disease caused by mutation in dnajc6	DNAJC6	DNAJC6	https://raresource.nih.gov/literature/disease/0018461	0018461	615528		C3809811		DnaJ heat shock protein family (Hsp40) member C6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile onset Parkinson disease 19A"	None
Early-onset Parkinson disease 20	early-onset parkinson disease type 20//parkinson disease caused by mutation in synj1//synj1 parkinson disease	SYNJ1	SYNJ1	https://raresource.nih.gov/literature/disease/0018462	0018462	615530		C3809824		synaptojanin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset Parkinson disease 20"	None
Silver-Russell syndrome 3	growth restriction, severe, with distinctive facies//srs3	IGF2	IGF2	https://raresource.nih.gov/literature/disease/0018463	0018463	616489		C4225307		insulin like growth factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Silver-Russell syndrome 3"	None
Silver-russell syndrome 4	srs4	PLAG1	PLAG1	https://raresource.nih.gov/literature/disease/0018464	0018464	618907		C5394450		PLAG1 zinc finger	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Silver-russell syndrome 4"	None
Silver-Russell syndrome 5	srs5	HMGA2	HMGA2	https://raresource.nih.gov/literature/disease/0018465	0018465	618908		C5394456		high mobility group AT-hook 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Silver-Russell syndrome 5"	1
Combined oxidative phosphorylation deficiency 19	combined oxidative phosphorylation deficiency caused by mutation in lyrm4//combined oxidative phosphorylation deficiency type 19//coxpd19//lyrm4 combined oxidative phosphorylation deficiency	LYRM4	LYRM4	https://raresource.nih.gov/literature/disease/0018466	0018466	615595		C3810055		LYR motif containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 19"	2
Short-rib thoracic dysplasia 14 with polydactyly	srtd14	KIAA0586	KIAA0586	https://raresource.nih.gov/literature/disease/0018467	0018467	616546		C4225286		KIAA0586	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 14 with polydactyly"	None
Immunodeficiency 15a		IKBKB	IKBKB	https://raresource.nih.gov/literature/disease/0018469	0018469	618204		C4748694		inhibitor of nuclear factor kappa B kinase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 15a"	None
Aortic valve disease 1	aortic valve disease caused by mutation in notch1//aovd1//notch1 aortic valve disease	NOTCH1	NOTCH1	https://raresource.nih.gov/literature/disease/0018470	0018470			C3887892		notch receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic valve disease 1"	2
Aortic valve disease 2	aortic valve disease caused by mutation in smad6//aortic valve disease type 2//aovd2//smad6 aortic valve disease	SMAD6	SMAD6	https://raresource.nih.gov/literature/disease/0018471	0018471	614823		C3542024		SMAD family member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic valve disease 2"	None
Melanoma-pancreatic cancer syndrome		CDKN2A	CDKN2A	https://raresource.nih.gov/literature/disease/0018473	0018473	606719		C1838547	C563985	cyclin dependent kinase inhibitor 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melanoma-pancreatic cancer syndrome"	3
Autosomal dominant Parkinson disease 1	autosomal dominant parkinson disease type 1	SNCA	SNCA	https://raresource.nih.gov/literature/disease/0018474	0018474	168601		C1868595	C566823	synuclein alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Parkinson disease 1"	None
Autosomal dominant Parkinson disease 4	autosomal dominant lewy body parkinson disease 4//autosomal dominant parkinson disease type 4//parkinson disease 4, autosomal dominant lewy body	SNCA	SNCA	https://raresource.nih.gov/literature/disease/0018475	0018475	605543		C1854182	C565324	synuclein alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Parkinson disease 4"	None
Autosomal dominant Parkinson disease 8	autosomal dominant parkinson disease type 8//lrrk2 parkinson disease//lrrk2-related parkinson disease//parkinson disease 8//parkinson disease 8, susceptibility to//parkinson disease caused by mutation in lrrk2	LRRK2	LRRK2	https://raresource.nih.gov/literature/disease/0018476	0018476	607060		C1846862		leucine rich repeat kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Parkinson disease 8"	3
Parkinson disease 17	autosomal dominant parkinson disease 17//park17//parkinson disease caused by mutation in vps35//parkinson disease type 17//vps35 parkinson disease	VPS35	VPS35	https://raresource.nih.gov/literature/disease/0018478	0018478	614203		C3280133		VPS35 retromer complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinson disease 17"	2
Microcephaly and chorioretinopathy 3	microcephaly and chorioretinopathy caused by mutation in tubgcp4//microcephaly and chorioretinopathy type 3//microcephaly and chorioretinopathy, autosomal recessive, 3//microcephaly and chorioretinopathy, autosomal recessive, type 3//tubgcp4 microcephaly and chorioretinopathy	TUBGCP4	TUBGCP4	https://raresource.nih.gov/literature/disease/0018482	0018482	616335		C4225362		tubulin gamma complex component 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly and chorioretinopathy 3"	None
Short stature, microcephaly, and endocrine dysfunction	ssmed	XRCC4	XRCC4	https://raresource.nih.gov/literature/disease/0018483	0018483	616541		C4225288		X-ray repair cross complementing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature, microcephaly, and endocrine dysfunction"	None
Seckel syndrome 10	nsmce2 seckel syndrome//sckl10//seckel syndrome caused by mutation in nsmce2//seckel syndrome type 10	NSMCE2	NSMCE2	https://raresource.nih.gov/literature/disease/0018484	0018484	617253		C4310647		NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 10"	None
Palmoplantar keratoderma, nonepidermolytic, focal 1	fneppk1//krt16 nonepidermolytic palmoplantar keratoderma//nonepidermolytic palmoplantar keratoderma caused by mutation in krt16//palmoplantar keratoderma, nonepidermolytic, focal//palmoplantar keratoderma, nonepidermolytic, focal type 1	KRT16	KRT16	https://raresource.nih.gov/literature/disease/0018487	0018487	613000		C4552049		keratin 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma, nonepidermolytic, focal 1"	None
Patent ductus arteriosus 2	patent ductus arteriosus 2; pda2//patent ductus arteriosus type 2//pda2	TFAP2B	TFAP2B	https://raresource.nih.gov/literature/disease/0018489	0018489	617035		C4284595		transcription factor AP-2 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Patent ductus arteriosus 2"	None
Patent ductus arteriosus 3	patent ductus arteriosus caused by mutation in prdm6//pda3//prdm6 patent ductus arteriosus	PRDM6	PRDM6	https://raresource.nih.gov/literature/disease/0018490	0018490	617039		C4310753		PR/SET domain 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Patent ductus arteriosus 3"	None
Platelet-type bleeding disorder 20	autosomal dominant thrombocytopenia with platelet secretion defect//bdplt20//bleeding disorder, platelet-type, 20//inherited bleeding disorder, platelet-type caused by mutation in slfn14//slfn14 inherited bleeding disorder, platelet-type	SLFN14	SLFN14	https://raresource.nih.gov/literature/disease/0018491	0018491	616913	466806	C4310797		schlafen family member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 20"	1
Thrombocytopenia 7	thc7//thrombocytopenia, autosomal dominant, 7	IKZF5	IKZF5	https://raresource.nih.gov/literature/disease/0018492	0018492	619130		C5436874		IKAROS family zinc finger 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 7"	None
Chilblain lupus 1	chbl1//chilblain lupus caused by mutation in trex1//chilblain lupus type 1//trex1 chilblain lupus	TREX1	TREX1	https://raresource.nih.gov/literature/disease/0018493	0018493	610448		C0024145		three prime repair exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chilblain lupus 1"	None
Chilblain lupus 2	chbl2//chilblain lupus caused by mutation in samhd1//chilblain lupus type 2//samhd1 chilblain lupus	SAMHD1	SAMHD1	https://raresource.nih.gov/literature/disease/0018494	0018494	614415		C3280721		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chilblain lupus 2"	None
Spinal muscular atrophy with congenital bone fractures 2	ascc1 prenatal-onset spinal muscular atrophy with congenital bone fractures//prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ascc1//smabf2//spinal muscular atrophy with congenital bone fractures type 2	ASCC1	ASCC1	https://raresource.nih.gov/literature/disease/0018495	0018495	616867		C4225176		activating signal cointegrator 1 complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy with congenital bone fractures 2"	5
Oocyte maturation defect 2	inherited oocyte maturation defect caused by mutation in tubb8//oocyte/zygote/embryo maturation arrest 2//oomd2//ozema2//tubb8 inherited oocyte maturation defect	TUBB8	TUBB8	https://raresource.nih.gov/literature/disease/0018496	0018496	616780		C4225210		tubulin beta 8 class VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oocyte maturation defect 2"	1
Oocyte maturation defect 4	oocyte/zygote/embryo maturation arrest 4//oomd4	PATL2	PATL2	https://raresource.nih.gov/literature/disease/0018497	0018497	617743		C4540284		PAT1 homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oocyte maturation defect 4"	1
Oocyte maturation defect 8	oocyte/zygote/embryo maturation arrest 8	BTG4	BTG4	https://raresource.nih.gov/literature/disease/0018498	0018498	619009		C5436597		BTG anti-proliferation factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oocyte maturation defect 8"	None
Oocyte maturation defect 9	oocyte/zygote/embryo maturation arrest 9	TRIP13	TRIP13	https://raresource.nih.gov/literature/disease/0018499	0018499	619011		C5436599		thyroid hormone receptor interactor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oocyte maturation defect 9"	None
Oocyte maturation defect 10	oocyte/zygote/embryo maturation arrest 10//oomd10	REC114	REC114	https://raresource.nih.gov/literature/disease/0018500	0018500	619176		C5436938		REC114 meiotic recombination protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oocyte maturation defect 10"	None
Intellectual disability, autosomal dominant 42	autosomal dominant intellectual disability 42//autosomal dominant mental retardation 42//global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome//gnb1-related disorder//gnb1-related neurodevelopmental disorder//intellectual developmental disorder, autosomal dominant 42//intellectual disability, autosomal dominant type 42//mental retardation, autosomal dominant 42//mental retardation, autosomal dominant type 42//mrd42	GNB1	GNB1	https://raresource.nih.gov/literature/disease/0018501	0018501	616973	488613	C4310774		G protein subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 42"	1
Spermatogenic failure, Y-linked, 2	azoospermia, nonobstructive, y-linked//oligospermia, nonobstructive, y-linked//oligozoospermia, nonobstructive, y-linked//spermatogenic arrest, y-linked//spermatogenic failure, nonobstructive, y-linked//spermatogenic failure, y-linked, 2, y-linked//spermatogenic failure, y-linked, type 2//y chromosome infertility	USP9Y	USP9Y	https://raresource.nih.gov/literature/disease/0018504	0018504	415000		C1839071	C564030	ubiquitin specific peptidase 9 Y-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spermatogenic failure, Y-linked, 2"	1
Monosomy 7 myelodysplasia and leukemia syndrome 1	chromosome 7q deletion//familial mosaic monosomy 7 syndrome//m7mls1//monosomy 7 of bone marrow//myelodysplasia and leukaemia syndrome with monosomy 7//myelodysplasia and leukemia syndrome with monosomy 7	SAMD9L	SAMD9L	https://raresource.nih.gov/literature/disease/0018505	0018505	252270		C1854978	C565370	sterile alpha motif domain containing 9 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monosomy 7 myelodysplasia and leukemia syndrome 1"	None
Monosomy 7 myelodysplasia and leukemia syndrome 2	m7mls2	SAMD9	SAMD9	https://raresource.nih.gov/literature/disease/0018506	0018506	619041		C5436668		sterile alpha motif domain containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monosomy 7 myelodysplasia and leukemia syndrome 2"	None
Microcephaly, growth restriction, and increased sister chromatid exchange 2		TOP3A	TOP3A	https://raresource.nih.gov/literature/disease/0018507	0018507	618097		C4748176		DNA topoisomerase III alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, growth restriction, and increased sister chromatid exchange 2"	None
Vertebral, cardiac, renal, and limb defects syndrome 1	3-hydroxyanthranilic acidemia//congenital nad deficiency disorder 1	HAAO	HAAO	https://raresource.nih.gov/literature/disease/0018508	0018508	617660		C4540004		3-hydroxyanthranilate 3,4-dioxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vertebral, cardiac, renal, and limb defects syndrome 1"	None
Vertebral, cardiac, renal, and limb defects syndrome 2	congenital nad deficiency disorder 2//kynureninase deficiency, complete	KYNU	KYNU	https://raresource.nih.gov/literature/disease/0018509	0018509	617661		C4540014		kynureninase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vertebral, cardiac, renal, and limb defects syndrome 2"	None
Vertebral, cardiac, renal, and limb defects syndrome 3	congenital nad deficiency disorder 3//vcrl3	NADSYN1	NADSYN1	https://raresource.nih.gov/literature/disease/0018510	0018510	618845		C5394250		NAD synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vertebral, cardiac, renal, and limb defects syndrome 3"	None
Shukla-Vernon syndrome	shukla-vernon syndrome, x-linked recessive	BCORL1	BCORL1	https://raresource.nih.gov/literature/disease/0018511	0018511	301029		C5193146		BCL6 corepressor like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shukla-Vernon syndrome"	1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		BPTF	BPTF	https://raresource.nih.gov/literature/disease/0018513	0018513	617755		C4540327		bromodomain PHD finger transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"	None
Intellectual developmental disorder 61	intellectual developmental disorder, autosomal dominant 61//mental retardation, autosomal dominant 61	MED13	MED13	https://raresource.nih.gov/literature/disease/0018514	0018514	618009		C5231400		mediator complex subunit 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder 61"	1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		DOCK3	DOCK3	https://raresource.nih.gov/literature/disease/0018515	0018515	618292		C4749014		dedicator of cytokinesis 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia"	None
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		PUS7	PUS7	https://raresource.nih.gov/literature/disease/0018516	0018516	618342		C5193039		pseudouridine synthase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	None
Developmental delay with variable intellectual impairment and behavioral abnormalities	ddviba//tcf20-related disorder//tcf20-related syndrome	TCF20	TCF20	https://raresource.nih.gov/literature/disease/0018517	0018517	618430		C5193092		transcription factor 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay with variable intellectual impairment and behavioral abnormalities"	None
Intellectual developmental disorder with severe speech and ambulation defects	actl6b-related bafopathy	ACTL6B	ACTL6B	https://raresource.nih.gov/literature/disease/0018518	0018518	618470		C5193115		actin like 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with severe speech and ambulation defects"	None
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	iqbal neurodevelopmental syndrome	SVBP	SVBP	https://raresource.nih.gov/literature/disease/0018519	0018519	618569		C5231413		small vasohibin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly"	None
Intellectual developmental disorder with impaired language and dysmorphic facies		DDX6	DDX6	https://raresource.nih.gov/literature/disease/0018520	0018520	618653		C5231444		DEAD-box helicase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with impaired language and dysmorphic facies"	None
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies		ZMIZ1	ZMIZ1	https://raresource.nih.gov/literature/disease/0018521	0018521	618659		C5231448		zinc finger MIZ-type containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	None
Intellectual developmental disorder with autistic features and language delay, with or without seizures	iddalds	TANC2	TANC2	https://raresource.nih.gov/literature/disease/0018522	0018522	618906		C5394447		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with autistic features and language delay, with or without seizures"	None
Neurodevelopmental, jaw, eye, and digital syndrome	nedjed	FBXW11	FBXW11	https://raresource.nih.gov/literature/disease/0018523	0018523	618914		C5394477		F-box and WD repeat domain containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental, jaw, eye, and digital syndrome"	1
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	nedshba//neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities	GRM7	GRM7	https://raresource.nih.gov/literature/disease/0018524	0018524	618922		C5394517		glutamate metabotropic receptor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"	None
Tolchin-Le Caignec syndrome	intellectual developmental disorder with behavioral abnormalities and variable bone defects	SOX6	SOX6	https://raresource.nih.gov/literature/disease/0018525	0018525	618971		C5436509		SRY-box transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tolchin-Le Caignec syndrome"	None
Li-Ghorbani-Weisz-Hubshman syndrome	li-ghorgani-weisz-hubshman syndrome	KAT8	KAT8	https://raresource.nih.gov/literature/disease/0018526	0018526	618974		C5436525		lysine acetyltransferase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Li-Ghorbani-Weisz-Hubshman syndrome"	1
Intellectual developmental disorder with seizures and language delay	iddseld//setd1b-ndd//setd1b-related neurodevelopmental disorder	SETD1B	SETD1B	https://raresource.nih.gov/literature/disease/0018527	0018527	619000		C5436574		SET domain containing 1B, histone lysine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with seizures and language delay"	1
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia		MADD	MADD	https://raresource.nih.gov/literature/disease/0018528	0018528	619005		C5436585		MAP kinase activating death domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia"	None
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	iddebf	ALG14	ALG14	https://raresource.nih.gov/literature/disease/0018529	0018529	619031		C5436646		ALG14 UDP-N-acetylglucosaminyltransferase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies"	None
Neurodevelopmental disorder with speech impairment and dysmorphic facies	nedsid	SETD1A	SETD1A	https://raresource.nih.gov/literature/disease/0018530	0018530	619056		C5436699		SET domain containing 1A, histone lysine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with speech impairment and dysmorphic facies"	None
Neurodevelopmental disorder with seizures and brain atrophy	nedseba	EXOC7	EXOC7	https://raresource.nih.gov/literature/disease/0018531	0018531	619072		C5436732		exocyst complex component 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with seizures and brain atrophy"	None
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	nedmisb	EXOC8	EXOC8	https://raresource.nih.gov/literature/disease/0018532	0018532	619076		C5436747		exocyst complex component 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	None
Delpire-McNeill syndrome	delmnes//slc12a2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome	SLC12A2	SLC12A2	https://raresource.nih.gov/literature/disease/0018533	0018533	619083	633024	C5436771		solute carrier family 12 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Delpire-McNeill syndrome"	None
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	nedmilg, ar//neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive	NARS1	NARS1	https://raresource.nih.gov/literature/disease/0018534	0018534	619091		C5436783		asparaginyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	None
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	nedmileg, ad//neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant	NARS1	NARS1	https://raresource.nih.gov/literature/disease/0018535	0018535	619092		C5436788		asparaginyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	None
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	iddsapn	NEMF	NEMF	https://raresource.nih.gov/literature/disease/0018536	0018536	619099		C5436813		nuclear export mediator factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	1
Kaya-Barakat-Masson syndrome	kabamas	YIF1B	YIF1B	https://raresource.nih.gov/literature/disease/0018537	0018537	619125	684240	C5436856		Yip1 interacting factor homolog B, membrane trafficking protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kaya-Barakat-Masson syndrome"	2
Lessel-Kreienkamp syndrome	leskres	AGO2	AGO2	https://raresource.nih.gov/literature/disease/0018538	0018538	619149		C5436892		argonaute RISC catalytic component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lessel-Kreienkamp syndrome"	3
Neurodevelopmental disorder with or without early-onset generalized epilepsy	nedege	NBEA	NBEA	https://raresource.nih.gov/literature/disease/0018539	0018539	619157		C5436914		neurobeachin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with or without early-onset generalized epilepsy"	None
Neurodevelopmental disorder with or without autism or seizures	nedaus	CUL3	CUL3	https://raresource.nih.gov/literature/disease/0018540	0018540	619239		C5543225		cullin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with or without autism or seizures"	2
Global developmental delay with speech and behavioral abnormalities	gdsba	TNRC6B	TNRC6B	https://raresource.nih.gov/literature/disease/0018541	0018541	619243		C5543226		trinucleotide repeat containing adaptor 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Global developmental delay with speech and behavioral abnormalities"	None
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	nedcafd	TTC5	TTC5	https://raresource.nih.gov/literature/disease/0018542	0018542	619244		C5543228		tetratricopeptide repeat domain 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism"	None
Neurodevelopmental disorder with dysmorphic facies and variable seizures	neddfas	EMC10	EMC10	https://raresource.nih.gov/literature/disease/0018543	0018543	619264		C5543268		ER membrane protein complex subunit 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with dysmorphic facies and variable seizures"	2
Alzahrani-Kuwahara syndrome	neurodevelopmental disorder with dysmorphic facies and cataracts	SMG8	SMG8	https://raresource.nih.gov/literature/disease/0018544	0018544	619268		C5543274		SMG8 nonsense mediated mRNA decay factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzahrani-Kuwahara syndrome"	2
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia		EXOC2	EXOC2	https://raresource.nih.gov/literature/disease/0018545	0018545	619306		C5543332		exocyst complex component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia"	None
Buratti-Harel syndrome		SIAH1	SIAH1	https://raresource.nih.gov/literature/disease/0018546	0018546	619314		C5543351		siah E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Buratti-Harel syndrome"	2
Intellectual developmental disorder, autosomal dominant 65	mental retardation, autosomal dominant 65//mrd65	KDM4B	KDM4B	https://raresource.nih.gov/literature/disease/0018547	0018547	619320		C5543371		lysine demethylase 4B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 65"	None
Autosomal dominant Robinow syndrome 2	autosomal dominant robinow syndrome caused by mutation in dvl1//autosomal dominant robinow syndrome type 2//drs2//dvl1 autosomal dominant robinow syndrome//robinow syndrome, autosomal dominant type 2	DVL1	DVL1	https://raresource.nih.gov/literature/disease/0018548	0018548	616331		C4225363		dishevelled segment polarity protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Robinow syndrome 2"	2
Autosomal dominant Robinow syndrome 3	autosomal dominant robinow syndrome type 3//drs3//dvl3 robinow syndrome//robinow syndrome caused by mutation in dvl3//robinow syndrome, autosomal dominant 3//robinow syndrome, autosomal dominant type 3	DVL3	DVL3	https://raresource.nih.gov/literature/disease/0018549	0018549	616894		C4225164		dishevelled segment polarity protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Robinow syndrome 3"	1
Factor H deficiency	cfh deficiency//cfhd//complement factor h deficiency	CFH	CFH	https://raresource.nih.gov/literature/disease/0018551	0018551	609814		C0398777	C562875	complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor H deficiency"	92
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	ahus with mcp/cd46 anomaly//ahus, susceptibility to, 2//atypical hus with mcp/cd46 anomaly//d-hus with mcp/cd46 anomaly//hemolytic uremic syndrome, atypical, susceptibility to, 2//hemolytic uremic syndrome, atypical, susceptibility to, type 2//hemolytic-uremic syndrome without diarrhea with mcp/cd46 anomaly//hemolytic-uremic syndrome without diarrhoea with mcp/cd46 anomaly	CD46	CD46	https://raresource.nih.gov/literature/disease/0018552	0018552	612922		C2752040		CD46 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	None
Atypical hemolytic-uremic syndrome with I factor anomaly	ahus with i factor anomaly//ahus, susceptibility to, 3//atypical hus with i factor anomaly//d-hus with i factor anomaly//hemolytic uremic syndrome, atypical, susceptibility to, 3//hemolytic uremic syndrome, atypical, susceptibility to, type 3//hemolytic-uremic syndrome without diarrhea with i factor anomaly//hemolytic-uremic syndrome without diarrhoea with i factor anomaly	CFI	CFI	https://raresource.nih.gov/literature/disease/0018553	0018553	612923		C2752039		complement factor I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic-uremic syndrome with I factor anomaly"	None
Atypical hemolytic-uremic syndrome with B factor anomaly	ahus with b factor anomaly//ahus, susceptibility to, 4//atypical hus with b factor anomaly//d-hus with b factor anomaly//hemolytic uremic syndrome, atypical, susceptibility to, 4//hemolytic uremic syndrome, atypical, susceptibility to, type 4//hemolytic-uremic syndrome without diarrhea with b factor anomaly//hemolytic-uremic syndrome without diarrhoea with b factor anomaly	CFB	CFB	https://raresource.nih.gov/literature/disease/0018554	0018554	612924		C2752038		complement factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic-uremic syndrome with B factor anomaly"	None
Atypical hemolytic-uremic syndrome with C3 anomaly	ahus with c3 anomaly//ahus, susceptibility to, 5//atypical hus with c3 anomaly//d-hus with c3 anomaly//hemolytic uremic syndrome with dgke deficiency//hemolytic uremic syndrome, atypical, susceptibility to, type 5//hemolytic-uremic syndrome without diarrhea with c3 anomaly//hemolytic-uremic syndrome without diarrhoea with c3 anomaly	C3	C3	https://raresource.nih.gov/literature/disease/0018555	0018555	612925		C2752037		complement C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic-uremic syndrome with C3 anomaly"	None
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	ahus with thrombomodulin anomaly//ahus, susceptibility to, 6//atypical hus with thrombomodulin anomaly//d-hus with thrombomodulin anomaly//hemolytic uremic syndrome, atypical, susceptibility to, 6//hemolytic uremic syndrome, atypical, susceptibility to, type 6//hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly//hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly	THBD	THBD	https://raresource.nih.gov/literature/disease/0018556	0018556	612926		C2752036		thrombomodulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical hemolytic-uremic syndrome with thrombomodulin anomaly"	None
Trigonocephaly 1	fgfr1 isolated trigonocephaly//isolated trigonocephaly caused by mutation in fgfr1//trigno1//trigonocephaly type 1	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0018558	0018558	190440		C0432122		fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trigonocephaly 1"	1
Trigonocephaly 2	frem1 isolated trigonocephaly//isolated trigonocephaly caused by mutation in frem1//trigno2//trigonocephaly type 2	FREM1	FREM1	https://raresource.nih.gov/literature/disease/0018559	0018559	614485		C3280974		FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trigonocephaly 2"	1
ENDOVE syndrome, limb-brain type	endoveslb//mesomelia of lower extremities with hand, foot, and brain anomalies	EN1	EN1	https://raresource.nih.gov/literature/disease/0018561	0018561	619218		C5543142		engrailed homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ENDOVE syndrome, limb-brain type"	None
Pontocerebellar hypoplasia, type 15	pch15	CDC40	CDC40	https://raresource.nih.gov/literature/disease/0018563	0018563	619302		C5543326		cell division cycle 40	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 15"	None
Lethal congenital contracture syndrome 7	cntnap1 lethal congenital contracture syndrome//lccs7//lethal congenital contracture syndrome caused by mutation in cntnap1//lethal congenital contracture syndrome type 7	CNTNAP1	CNTNAP1	https://raresource.nih.gov/literature/disease/0018564	0018564	616286		C4225386		contactin associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 7"	2
Lethal congenital contracture syndrome 8	adcy6 lethal congenital contracture syndrome//lccs8//lethal congenital contracture syndrome caused by mutation in adcy6//lethal congenital contracture syndrome type 8	ADCY6	ADCY6	https://raresource.nih.gov/literature/disease/0018565	0018565	616287		C4225385		adenylate cyclase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 8"	1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	arthrogryposis multiplex congenita, neurogenic, with myelin defect	LGI4	LGI4	https://raresource.nih.gov/literature/disease/0018566	0018566	617468		C4479539		leucine rich repeat LGI family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect"	None
Neuropathy, congenital hypomyelinating, 3	chn3//hypomyelinating neuropathy, congenital, 3	CNTNAP1	CNTNAP1	https://raresource.nih.gov/literature/disease/0018567	0018567	618186		C4748608		contactin associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, congenital hypomyelinating, 3"	3
Thrombophilia due to protein S deficiency, autosomal dominant	autosomal dominant hereditary thrombophilia due to congenital protein s deficiency//hereditary thrombophilia due to congenital protein s deficiency, autosomal dominant//protein s acquired deficiency//thph5//thrombophilia 5 due to protein s deficiency, autosomal dominant	PROS1	PROS1	https://raresource.nih.gov/literature/disease/0018568	0018568	612336	26349	C3278211	C567077	protein S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia due to protein S deficiency, autosomal dominant"	None
Thrombophilia due to protein S deficiency, autosomal recessive	thph6//thrombophilia 5 due to protein s deficiency, autosomal recessive	PROS1	PROS1	https://raresource.nih.gov/literature/disease/0018569	0018569	614514		C3281092		protein S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia due to protein S deficiency, autosomal recessive"	None
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 1//cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy//fatal infantile encephalocardiomyopathy caused by mutation in sco2//mc4dn2//mitochondrial complex iv deficiency, nuclear type 2//sco2 fatal infantile encephalocardiomyopathy	SCO2	SCO2	https://raresource.nih.gov/literature/disease/0018570	0018570	604377		C5399977		synthesis of cytochrome C oxidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1"	None
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2//cox15 fatal infantile encephalocardiomyopathy//fatal infantile encephalocardiomyopathy caused by mutation in cox15//mc4dn6//mitochondrial complex iv deficiency, nuclear type 6	COX15	COX15	https://raresource.nih.gov/literature/disease/0018571	0018571	615119		C3554534		cytochrome c oxidase assembly homolog COX15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"	None
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3//coa5 fatal infantile encephalocardiomyopathy//fatal infantile encephalocardiomyopathy caused by mutation in coa5//mc4dn9//mitochondrial complex iv, deficiency, nuclear type 9	COA5	COA5	https://raresource.nih.gov/literature/disease/0018572	0018572	616500		C4225154		cytochrome c oxidase assembly factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3"	None
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 4//coa6 fatal infantile encephalocardiomyopathy//fatal infantile encephalocardiomyopathy caused by mutation in coa6//mc4dn13//mitochondrial complex iv deficiency, nuclear type 13	COA6	COA6	https://raresource.nih.gov/literature/disease/0018573	0018573	616501		C4225304		cytochrome c oxidase assembly factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4"	None
Thrombophilia due to protein C deficiency, autosomal dominant	proc deficiency, autosomal dominant//protein c deficiency, autosomal dominant//thrombophilia 3 due to protein c deficiency, autosomal dominant	PROC	PROC	https://raresource.nih.gov/literature/disease/0018574	0018574	176860		C2674321		protein C, inactivator of coagulation factors Va and VIIIa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia due to protein C deficiency, autosomal dominant"	None
Tumor predisposition syndrome 3	cmm10//glioma susceptibility 9//glioma susceptibility type 9//glm9//long telomere syndrome, pot1-related//malignant glioma caused by mutation in pot1//melanoma, cutaneous malignant, susceptibility to, 10//melanoma, cutaneous malignant, susceptibility to, type 10//pot1 tumor predisposition//pot1-related tumor predisposition syndrome//pot1-tpd//tpds3	POT1	POT1	https://raresource.nih.gov/literature/disease/0018582	0018582	615848		C4014476		protection of telomeres 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tumor predisposition syndrome 3"	4
Familial idiopathic hypercalciuria	hca2//hypercalciuria, absorptive, 2//hypercalciuria, absorptive, susceptibility to//hypercalciuria, absorptive, type 2	ADCY10	ADCY10	https://raresource.nih.gov/literature/disease/0018583	0018583	143870		C0342639	C562790	adenylate cyclase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial idiopathic hypercalciuria"	5
Congenital short bowel syndrome, autosomal recessive	congenital short bowel syndrome 1//congenital short bowel syndrome due to clmp variation	CLMP	CLMP	https://raresource.nih.gov/literature/disease/0018585	0018585			CN296805		CXADR like membrane protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital short bowel syndrome, autosomal recessive"	None
Erythrokeratodermia variabilis et progressiva 2	ekvp2	GJB4	GJB4	https://raresource.nih.gov/literature/disease/0018588	0018588	617524		C4479618		gap junction protein beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 2"	None
Erythrokeratodermia variabilis et progressiva 3	ekvp3	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0018589	0018589	617525		C4479619		gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 3"	None
Erythrokeratodermia variabilis et progressiva 4	ekvp4	KDSR	KDSR	https://raresource.nih.gov/literature/disease/0018590	0018590	617526		C4479620		3-ketodihydrosphingosine reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 4"	None
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	ectd10a//ectodermal dysplasia 3, anhidrotic	EDAR	EDAR	https://raresource.nih.gov/literature/disease/0018591	0018591	129490		C3888065		ectodysplasin A receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	None
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		EDARADD	EDARADD	https://raresource.nih.gov/literature/disease/0018592	0018592	614940		C3541517		EDAR associated via death domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	None
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	ectd12//ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ectd12//ectodermal dysplasia syndrome caused by mutation in kdf1//kdf1 ectodermal dysplasia syndrome	KDF1	KDF1	https://raresource.nih.gov/literature/disease/0018593	0018593	617337		C4310616		keratinocyte differentiation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	None
Polycystic kidney disease, adult type	apkd1//autosomal dominant polycystic kidney disease caused by mutation in pkd1//pkd1//pkd1 autosomal dominant polycystic kidney disease//polycystic kidney disease 1//polycystic kidney disease 1 with or without polycystic liver disease//polycystic kidney disease 1, autosomal dominant//polycystic kidney disease 1, severe//polycystic kidney disease type 1//polycystic kidney disease, adult, type i//polycystic kidney, autosomal dominant	PKD1	PKD1	https://raresource.nih.gov/literature/disease/0018597	0018597	173900		C3149841	C536326	polycystin 1, transient receptor potential channel interacting	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease, adult type"	74
Polycystic kidney disease 3 with or without polycystic liver disease	apkd3//autosomal dominant polycystic kidney disease caused by mutation in ganab//ganab autosomal dominant polycystic kidney disease//pkd3//polycystic kidney disease 3//polycystic kidney disease 3, autosomal dominant//polycystic kidney disease type 3//polycystic kidney disease, adult, type 3//polycystic kidney disease, adult, type iii//polycystic kidney disease, type 3	GANAB	GANAB	https://raresource.nih.gov/literature/disease/0018598	0018598	600666		C3887964		glucosidase II alpha subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 3 with or without polycystic liver disease"	2
Polycystic kidney disease 2	adult type polycystic kidney disease type 2//apkd2//autosomal dominant polycystic kidney disease caused by mutation in pkd2//autosomal dominant polycystic kidney disease type 2//pkd2//pkd2 - polycystic kidney disease 2//pkd2 autosomal dominant polycystic kidney disease//polycystic kidney disease 2 with or without polycystic liver disease//polycystic kidney disease 2, autosomal dominant//polycystic kidney disease type 2//polycystic kidney disease, adult, type ii	PKD2	PKD2	https://raresource.nih.gov/literature/disease/0018599	0018599	613095		C2751306		polycystin 2, transient receptor potential cation channel	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 2"	71
Hypogonadotropic hypogonadism 10 with or without anosmia	hh10//hypogonadotropic hypogonadism caused by mutation in tac3//tac3 hypogonadotropic hypogonadism	TAC3	TAC3	https://raresource.nih.gov/literature/disease/0018600	0018600	614839		C3553843		tachykinin precursor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 10 with or without anosmia"	None
Hypogonadotropic hypogonadism 13 with or without anosmia	hh13//hypogonadotropic hypogonadism caused by mutation in kiss1//kiss1 hypogonadotropic hypogonadism	KISS1	KISS1	https://raresource.nih.gov/literature/disease/0018601	0018601	614842		C3541462		KiSS-1 metastasis suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 13 with or without anosmia"	None
Autosomal recessive early-onset Parkinson disease 6	park6//parkinson disease 6, early-onset//parkinson disease 6, modifier of//parkinson disease caused by mutation in pink1//pink1 parkinson disease//pink1 type of young-onset parkinson disease//pink1-related parkinson disease	PINK1	PINK1	https://raresource.nih.gov/literature/disease/0018605	0018605	605909		C1853833	C565276	PTEN induced kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive early-onset Parkinson disease 6"	5
Autosomal recessive early-onset Parkinson disease 7	autosomal recessive early-onset parkinson disease type 7//park7 parkinson disease//parkinson disease caused by mutation in park7	PARK7	PARK7	https://raresource.nih.gov/literature/disease/0018606	0018606	606324		C1853445	C565238	Parkinsonism associated deglycase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive early-onset Parkinson disease 7"	None
Autosomal recessive early-onset Parkinson disease 23	autosomal recessive early-onset parksinson disease type 23//park23//parkinson disease 23, autosomal recessive early-onset//parkinson disease 23, autosomal recessive, early onset//vps13c young-onset parkinson disease//young-onset parkinson disease caused by mutation in vps13c	VPS13C	VPS13C	https://raresource.nih.gov/literature/disease/0018610	0018610	616840		C4225186		vacuolar protein sorting 13 homolog C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive early-onset Parkinson disease 23"	1
Atrial standstill 1	atrial standstill type 1//atrial standstill, digenic (gja5/scn5a)//atrst1//cardiomyopathy, familial, with conduction disturbance	GJA5	GJA5	https://raresource.nih.gov/literature/disease/0018611	0018611	108770		C4551959		gap junction protein alpha 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial standstill 1"	None
Atrial standstill 2	atrial dilation and standstill//atrial standstill caused by mutation in nppa//atrial standstill type 2//atrst2//cardiomyopathy, atrial dilated, with atrial standstill//nppa atrial standstill	NPPA	NPPA	https://raresource.nih.gov/literature/disease/0018612	0018612	615745		C3810401		natriuretic peptide A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial standstill 2"	None
Hypercholesterolemia, familial, 4	arh//familial autosomal recessive hypercholesterolemia//familial hypercholesterolemia, autosomal recessive//fhcl4//hypercholesterolemia, autosomal recessive, 1//hypercholesterolemia, autosomal recessive, 2	LDLRAP1	LDLRAP1	https://raresource.nih.gov/literature/disease/0018614	0018614	603813		C1863512	C566331	low density lipoprotein receptor adaptor protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholesterolemia, familial, 4"	142
Dilated cardiomyopathy 1A	cardiomyopathy dilated with conduction defect type 1//cardiomyopathy, congestive//cardiomyopathy, dilated, type 1a//cardiomyopathy, dilated, with conduction defect 1//cdcd1//cmd1a//dilated cardiomyopathy type 1a//dilated cardiomyopathy with conduction defect 1//dilated cardiomyopathy with quadriceps myopathy//familial dilated cardiomyopathy with conduction defect due to lmna mutation//familial isolated dilated cardiomyopathy caused by mutation in lmna//lmna familial isolated dilated cardiomyopathy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0018615	0018615	115200	300751	C5979868		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy 1A"	12
Myoclonic dystonia 11	dystonia 11//dystonia, alcohol responsive//dystonia-11, myoclonic//dyt11//myoclonic dystonia type 11//myoclonus-dystonia//myoclonus-dystonia syndrome caused by mutation in sgce//sgce myoclonus-dystonia syndrome	SGCE	SGCE	https://raresource.nih.gov/literature/disease/0018616	0018616	159900		C1834570		sarcoglycan epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonic dystonia 11"	280
Developmental and epileptic encephalopathy, 2	cdd//cdkl5 (cyclin-dependent kinase-like 5) deficiency//cdkl5 early infantile epileptic encephalopathy//cdkl5-deficiency disorder//cdkl5-related epileptic encephalopathy//cyclin-dependent kinase-like 5 deficiency//dee2//developmental and epileptic encephalopathy 2, x-linked dominant//early infantile epileptic encephalopathy caused by mutation in cdkl5//eiee2//epileptic encephalopathy, early infantile, 2//epileptic encephalopathy, early infantile, type 2//infantile spasm syndrome, x-linked 2	CDKL5	CDKL5	https://raresource.nih.gov/literature/disease/0018617	0018617	300672	505652	C4750718	C564064	cyclin dependent kinase like 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 2"	503
Amyotrophic lateral sclerosis type 21	als21//amyotrophic lateral sclerosis caused by mutation in matr3//matr3 amyotrophic lateral sclerosis//myopathy, distal, 2//vocal cord and pharyngeal dysfunction with distal myopathy	MATR3	MATR3	https://raresource.nih.gov/literature/disease/0018619	0018619	606070		C3807521		matrin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 21"	None
Pigmented nodular adrenocortical disease, primary, 1	adrenocortical nodular dysplasia, primary//cushing syndrome, adrenal, due to ppnad1//pigmented micronodular adrenocortical disease, primary, 1//pigmented nodular adrenocortical disease, primary, type 1//ppnad1//primary pigmented nodular adrenocortical disease caused by mutation in prkar1a//prkar1a primary pigmented nodular adrenocortical disease	PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0018620	0018620	610489		C1864846	C566469	protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pigmented nodular adrenocortical disease, primary, 1"	None
Intellectual disability, autosomal dominant 1	autosomal dominant intellectual disability 1//autosomal dominant mental retardation 1//autosomal dominant non-syndromic intellectual disability caused by mutation in mbd5//intellectual developmental disorder, autosomal dominant 1//intellectual disability, autosomal dominant type 1//mbd5 autosomal dominant non-syndromic intellectual disability//mbd5 haploinsufficiency//mental retardation, autosomal dominant type 1//mrd1	MBD5	MBD5	https://raresource.nih.gov/literature/disease/0018623	0018623			C1969562	C566947	methyl-CpG binding domain protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 1"	6
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	endosteal sclerosis-cerebellar hypoplasia syndrome//hld8//leukodystrophy caused by mutation in polr3b//leukodystrophy, hypomyelinating, 8, with hypodontia and hypogonadotropic hypogonadism//polr3b leukodystrophy	POLR3B	POLR3B	https://raresource.nih.gov/literature/disease/0018624	0018624	614381	85186	C3280644	C535353	RNA polymerase III subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"	2
Nanophthalmos 1	microphthalmos, simple, autosomal dominant//nanophthalmia 1//nanophthalmos with high hyperopia and angle-closure glaucoma//nanophthalmos, autosomal dominant//nno1//tmem98	MYRF	MYRF	https://raresource.nih.gov/literature/disease/0018625	0018625	600165		C1838502	C563983	myelin regulatory factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nanophthalmos 1"	None
Nanophthalmos 2	mfrp nanophthalmia//nanophthalmia 2//nanophthalmia caused by mutation in mfrp//nanophthalmos type 2//nanophthalmos, autosomal recessive//nno2	MFRP	MFRP	https://raresource.nih.gov/literature/disease/0018626	0018626	609549		C1836006	C563700	membrane frizzled-related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nanophthalmos 2"	None
Isolated microphthalmia 6	isolated microphthalmia caused by mutation in prss56//isolated microphthalmia type 6//mcop6//microphthalmia, isolated type 6//microphthalmia, posterior nonsyndromic//posterior nonsyndromic microphthalmia//prss56 isolated microphthalmia	PRSS56	PRSS56	https://raresource.nih.gov/literature/disease/0018628	0018628	613517		C3150757		serine protease 56	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 6"	1
Nanophthalmos 4	nanophthalmia 4//nanophthalmia caused by mutation in tmem98//nanophthalmos type 4//nno4//tmem98 nanophthalmia	TMEM98	TMEM98	https://raresource.nih.gov/literature/disease/0018629	0018629	615972		C4014848		transmembrane protein 98	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nanophthalmos 4"	1
Factor V and factor VIII, combined deficiency of, type 1	combined deficiency of factor v and factor viii caused by mutation in lman1//combined factor v and viii deficiency//factor 5 and factor viii, combined deficiency of, 1//familial multiple coagulation factor deficiency i//fmfd i//lman1 combined deficiency of factor v and factor viii//multiple coagulation factor deficiency i	LMAN1	LMAN1	https://raresource.nih.gov/literature/disease/0018630	0018630	227300		C4551981		lectin, mannose binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor V and factor VIII, combined deficiency of, type 1"	6
Factor 5 and Factor VIII, combined deficiency of, 2	combined deficiency of factor v and factor viii caused by mutation in mcfd2//factor 5 and factor viii, combined deficiency of, type 2//factor v and factor viii, combined deficiency of//mcfd2 combined deficiency of factor v and factor viii	MCFD2	MCFD2	https://raresource.nih.gov/literature/disease/0018632	0018632	613625		C3150889		multiple coagulation factor deficiency 2, ER cargo receptor complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor 5 and Factor VIII, combined deficiency of, 2"	None
Short QT syndrome type 1	kcnh2 short qt syndrome//short qt syndrome caused by mutation in kcnh2//sqts	KCNH2	KCNH2	https://raresource.nih.gov/literature/disease/0018633	0018633			C1865020	C566506	potassium voltage-gated channel subfamily H member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short QT syndrome type 1"	160
Short QT syndrome type 2	kcnq1 short qt syndrome//short qt syndrome caused by mutation in kcnq1	KCNQ1	KCNQ1	https://raresource.nih.gov/literature/disease/0018634	0018634	609621		C1865019	C566505	potassium voltage-gated channel subfamily Q member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short QT syndrome type 2"	2
Short QT syndrome type 3	kcnj2 short qt syndrome//short qt syndrome caused by mutation in kcnj2	KCNJ2	KCNJ2	https://raresource.nih.gov/literature/disease/0018635	0018635	609622		C1865018	C566504	potassium inwardly rectifying channel subfamily J member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short QT syndrome type 3"	7
Vitamin D-dependent rickets, type 1A	pddr ia//pseudovitamin d-deficiency rickets, type ia//vitamin d hydroxylation-deficient rickets, type 1a	CYP27B1	CYP27B1	https://raresource.nih.gov/literature/disease/0018636	0018636			CN283242		cytochrome P450 family 27 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitamin D-dependent rickets, type 1A"	28
Amyloidosis, primary localized cutaneous, 1	amyloidosis 9//amyloidosis ix//amyloidosis, primary cutaneous, 1//amyloidosis, primary localised cutaneous, type 1//amyloidosis, primary localized cutaneous, type 1//lichen amyloidosis familial//osmr primary cutaneous amyloidosis//plca1//primary cutaneous amyloidosis caused by mutation in osmr	OSMR	OSMR	https://raresource.nih.gov/literature/disease/0018637	0018637			C4551501		oncostatin M receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis, primary localized cutaneous, 1"	None
Amyloidosis, primary localized cutaneous, 2	amyloidosis, primary localised cutaneous, type 2//amyloidosis, primary localized cutaneous, type 2//plca2	IL31RA	IL31RA	https://raresource.nih.gov/literature/disease/0018638	0018638	613955		C3151404		interleukin 31 receptor A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis, primary localized cutaneous, 2"	None
Non-syndromic X-linked intellectual disability	intellectual disability, nonsyndromic, x-linked//intellectual disability, x-linked, nonsyndromic//mental retardation, nonsyndromic, x-linked//mental retardation, x-linked, nonsyndromic//non-specific x-linked intellectual disability//non-specific x-linked mental retardation//non-syndromic intellectual disability, x-linked//x-linked non-specific intellectual disability//x-linked non-syndromic intellectual disability//xlid	MID2;RPS6KA3;TSPAN7;USP27X;RAB39B;ARHGEF6;MECP2;SLC9A7;GDI1;DLG3;USP9X;IQSEC2;ALG13;CASK;CLCN4;UPF3B;SYP;CNKSR2;DMD;AGTR2;ZNF711;ZNF81;FTSJ1;FRMPD4;ACSL4;HCFC1;ARX;STEEP1;IL1RAPL1	MID2;RPS6KA3;TSPAN7;USP27X;RAB39B;ARHGEF6;MECP2;SLC9A7;GDI1;DLG3;USP9X;IQSEC2;ALG13;CASK;CLCN4;UPF3B;SYP;CNKSR2;DMD;AGTR2;ZNF711;ZNF81;FTSJ1;FRMPD4;ACSL4;HCFC1;ARX;STEEP1;IL1RAPL1	https://raresource.nih.gov/literature/disease/0018640	0018640		777	C3501611	C564490	midline 2; ribosomal protein S6 kinase A3; tetraspanin 7; ubiquitin specific peptidase 27 X-linked; RAB39B, member RAS oncogene family; Rac/Cdc42 guanine nucleotide exchange factor 6; methyl-CpG binding protein 2; solute carrier family 9 member A7; GDP dissociation inhibitor 1; discs large MAGUK scaffold protein 3; ubiquitin specific peptidase 9 X-linked; IQ motif and Sec7 domain ArfGEF 2; ALG13 UDP-N-acetylglucosaminyltransferase subunit; calcium/calmodulin dependent serine protein kinase; chloride voltage-gated channel 4; UPF3B regulator of nonsense mediated mRNA decay; synaptophysin; connector enhancer of kinase suppressor of Ras 2; dystrophin; angiotensin II receptor type 2; zinc finger protein 711; zinc finger protein 81; FtsJ RNA 2'-O-methyltransferase 1; FERM and PDZ domain containing 4; acyl-CoA synthetase long chain family member 4; host cell factor C1; aristaless related homeobox; STING1 ER exit protein 1; interleukin 1 receptor accessory protein like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-syndromic X-linked intellectual disability"	200
Generalized epilepsy with febrile seizures plus	epilepsy, generalized, with febrile seizures plus//gefs+//generalised epilepsy with febrile seizures-plus//genetic epilepsy with febrile seizures plus//genetic epilepsy with febrile seizures-plus	STX1B;PRRT2;SCN1B;FGF13;HCN1;CPA6;GABRG2;SCN1A	STX1B;PRRT2;SCN1B;FGF13;HCN1;CPA6;GABRG2;SCN1A	https://raresource.nih.gov/literature/disease/0018641	0018641		36387	C3502809	C565808	syntaxin 1B; proline rich transmembrane protein 2; sodium voltage-gated channel beta subunit 1; fibroblast growth factor 13; hyperpolarization activated cyclic nucleotide gated potassium channel 1; carboxypeptidase A6; gamma-aminobutyric acid type A receptor subunit gamma2; sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy with febrile seizures plus"	302
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	hereditary persistence of fetal hemoglobin thalassemia//hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome//hpfh-beta-thalassemia syndrome	HBB;HBG1;HBG2;KLF1	HBB;HBG1;HBG2;KLF1	https://raresource.nih.gov/literature/disease/0018642	0018642		46532	C0271994		hemoglobin subunit beta; hemoglobin subunit gamma 1; hemoglobin subunit gamma 2; KLF transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	None
Autosomal recessive non-syndromic intellectual disability	ar-nsid//autosomal recessive mental retardation//autosomal recessive non-syndromic mental retardation//mental retardation, autosomal recessive//non-syndromic intellectual disability, autosomal recessive//ns-arid	CC2D1A;GRIA1;PIGC;NEMF;EZR;NAA20;ZC3H14;CRADD;ALKBH8;LINS1;TECR;MAN1B1;UBE4A;FRRS1L;NCDN;METTL23;IQSEC1;CRBN;TUSC3;GRIK2;CLIP1;SARS1;AIMP1;KDM5B;LMAN2L;MED23;B3GALNT2;TRAPPC9;GRM7;HNMT;TPR;GEMIN5;CEP104;UFSP2;NSUN2;EEF1B2;FERRY3;SLC45A1;PGAP1;MED25;GRIN1;IMPA1;CHKA;EDC3;DCPS;TNIK;FMN2;MBOAT7;ABCA2;NDST1;PRSS12;FBXO31;TTC5;RSRC1;WASHC4	CC2D1A;GRIA1;PIGC;NEMF;EZR;NAA20;ZC3H14;CRADD;ALKBH8;LINS1;TECR;MAN1B1;UBE4A;FRRS1L;NCDN;METTL23;IQSEC1;CRBN;TUSC3;GRIK2;CLIP1;SARS1;AIMP1;KDM5B;LMAN2L;MED23;B3GALNT2;TRAPPC9;GRM7;HNMT;TPR;GEMIN5;CEP104;UFSP2;NSUN2;EEF1B2;FERRY3;SLC45A1;PGAP1;MED25;GRIN1;IMPA1;CHKA;EDC3;DCPS;TNIK;FMN2;MBOAT7;ABCA2;NDST1;PRSS12;FBXO31;TTC5;RSRC1;WASHC4	https://raresource.nih.gov/literature/disease/0018643	0018643		88616	C5680181		coiled-coil and C2 domain containing 1A; glutamate ionotropic receptor AMPA type subunit 1; phosphatidylinositol glycan anchor biosynthesis class C; nuclear export mediator factor; ezrin; N-alpha-acetyltransferase 20, NatB catalytic subunit; zinc finger CCCH-type containing 14; CASP2 and RIPK1 domain containing adaptor with death domain; alkB homolog 8, tRNA methyltransferase; lines homolog 1; trans-2,3-enoyl-CoA reductase; mannosidase alpha class 1B member 1; ubiquitination factor E4A; ferric chelate reductase 1 like; neurochondrin; methyltransferase 23, arginine; IQ motif and Sec7 domain ArfGEF 1; cereblon; tumor suppressor candidate 3; glutamate ionotropic receptor kainate type subunit 2; CAP-Gly domain containing linker protein 1; seryl-tRNA synthetase 1; aminoacyl tRNA synthetase complex interacting multifunctional protein 1; lysine demethylase 5B; lectin, mannose binding 2 like; mediator complex subunit 23; beta-1,3-N-acetylgalactosaminyltransferase 2; trafficking protein particle complex subunit 9; glutamate metabotropic receptor 7; histamine N-methyltransferase; translocated promoter region, nuclear basket protein; gem nuclear organelle associated protein 5; centrosomal protein 104; UFM1 specific peptidase 2; NOP2/Sun RNA methyltransferase 2; eukaryotic translation elongation factor 1 beta 2; FERRY endosomal RAB5 effector complex subunit 3; solute carrier family 45 member 1; post-GPI attachment to proteins inositol deacylase 1; mediator complex subunit 25; glutamate ionotropic receptor NMDA type subunit 1; inositol monophosphatase 1; choline kinase alpha; enhancer of mRNA decapping 3; decapping enzyme, scavenger; TRAF2 and NCK interacting kinase; formin 2; membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7; ATP binding cassette subfamily A member 2; N-deacetylase and N-sulfotransferase 1; serine protease 12; F-box protein 31; tetratricopeptide repeat domain 5; arginine and serine rich coiled-coil 1; WASH complex subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive non-syndromic intellectual disability"	42
Nephronophthisis 1	familial juvenile nephronophthisis//juvenile nephronophthisis 1//nephronophthisis (disease) caused by mutation in nphp1//nephronophthisis 1, juvenile//nephronophthisis familial juvenile//nephronophthisis type 1//nph1//nphp1//nphp1 nephronophthisis (disease)	NPHP1	NPHP1	https://raresource.nih.gov/literature/disease/0018645	0018645		93592	C1855681	C537699	nephrocystin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 1"	94
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	hereditary persistence of fetal hemoglobin with sickle cell disease syndrome//hpfh-sickle cell disease syndrome	KLF1;HBB;HBG1;HBG2	KLF1;HBB;HBG1;HBG2	https://raresource.nih.gov/literature/disease/0018648	0018648		251380	C5190890		KLF transcription factor 1; hemoglobin subunit beta; hemoglobin subunit gamma 1; hemoglobin subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	None
Mitochondrial proton-transporting ATP synthase complex deficiency	isolated adenosine triphosphate synthase deficiency//isolated atp synthase deficiency//isolated mitochondrial respiratory chain complex v deficiency//mitochondrial complex v (atp synthase) deficiency//mitochondrial complex v (atp synthase) deficiency, nuclear type	MT-ATP6;ATP5F1A;ATP5F1E;ATP5MK;ATP5F1D;ATPAF2;MT-ATP8	MT-ATP6;ATP5F1A;ATP5F1E;ATP5MK;ATP5F1D;ATPAF2;MT-ATP8	https://raresource.nih.gov/literature/disease/0018649	0018649		254913	C4757950		mitochondrially encoded ATP synthase membrane subunit 6; ATP synthase F1 subunit alpha; ATP synthase F1 subunit epsilon; ATP synthase membrane subunit k; ATP synthase F1 subunit delta; ATP synthase mitochondrial F1 complex assembly factor 2; mitochondrially encoded ATP synthase membrane subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial proton-transporting ATP synthase complex deficiency"	2
Familial benign flecked retina	fleck retina, familial benign	PLA2G5	PLA2G5	https://raresource.nih.gov/literature/disease/0018651	0018651	228980	363989	C1856718	C565564	phospholipase A2 group V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial benign flecked retina"	None
Isolated sedoheptulokinase deficiency	deficiency of heptulokinase//deficiency of sedoheptulokinase//isolated shpk deficiency//sedoheptulokinase deficiency//shpkd	SHPK	SHPK	https://raresource.nih.gov/literature/disease/0018652	0018652	617213	440713	C1291373		sedoheptulokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated sedoheptulokinase deficiency"	3
Charcot-Marie-Tooth disease axonal type 2T	autosomal recessive axonal charcot-marie-tooth disease type 2t//charcot-marie-tooth neuropathy type 2t//cmt2t//dnajb2-related charcot-marie-tooth disease type 2//dnajb2-related cmt2	MME	MME	https://raresource.nih.gov/literature/disease/0018653	0018653	617017	443950	C4015635		membrane metalloendopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2T"	2
Microcephaly, short stature, and limb abnormalities	microcephaly-short stature-limb abnormalities syndrome//missla	DONSON	DONSON	https://raresource.nih.gov/literature/disease/0018655	0018655	617604	572773	C4539873		DNA replication fork stabilization factor DONSON	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly, short stature, and limb abnormalities"	2
Generalized epilepsy with febrile seizures plus, type 1	gefs+, type 1//gefsp1//scn1b-related generalized epilepsy with febrile seizures plus	SCN1B	SCN1B	https://raresource.nih.gov/literature/disease/0018659	0018659			C1858672	C565809	sodium voltage-gated channel beta subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy with febrile seizures plus, type 1"	3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	atpaf2 mitochondrial proton-transporting atp synthase complex deficiency//mc5dn1//mitochondrial complex v (atp synthase) deficiency, atpaf2 type//mitochondrial proton-transporting atp synthase complex deficiency caused by mutation in atpaf2//nuclear-encoded atpase deficiency, atpaf2-related	ATPAF2	ATPAF2	https://raresource.nih.gov/literature/disease/0018660	0018660	604273		C3276276		ATP synthase mitochondrial F1 complex assembly factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	None
Generalized epilepsy with febrile seizures plus, type 2	febrile seizures, familial caused by mutation in scn1a//gefs+, type 2//gefsp2//scn1a febrile seizures, familial//scn1a- related generalized epilepsy with febrile seizures plus	SCN1A	SCN1A	https://raresource.nih.gov/literature/disease/0018661	0018661	604403		C1858673	C565810	sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy with febrile seizures plus, type 2"	3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	atp5f1e mitochondrial proton-transporting atp synthase complex deficiency//mc5dn3//mitochondrial complex v (atp synthase) deficiency, atp5e type//mitochondrial proton-transporting atp synthase complex deficiency caused by mutation in atp5f1e	ATP5F1E	ATP5F1E	https://raresource.nih.gov/literature/disease/0018666	0018666	614053		C3279708		ATP synthase F1 subunit epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3"	None
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B	atp5f1a mitochondrial complex deficiency//mc5dn4b//mitochondrial complex deficiency caused by mutation in atp5f1a//mitochondrial complex v (atp synthase) deficiency nuclear type 4	ATP5F1A	ATP5F1A	https://raresource.nih.gov/literature/disease/0018667	0018667	615228		C3808899		ATP synthase F1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B"	None
Generalized epilepsy with febrile seizures plus, type 9	gefs+, type 9//gefsp9//generalised epilepsy with febrile seizures plus caused by mutation in stx1b//generalized epilepsy with febrile seizures plus caused by mutation in stx1b//stx1b generalised epilepsy with febrile seizures plus//stx1b generalized epilepsy with febrile seizures plus	STX1B	STX1B	https://raresource.nih.gov/literature/disease/0018668	0018668	616172		C4015395		syntaxin 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy with febrile seizures plus, type 9"	None
Erythrokeratodermia variabilis et progressiva 5		KRT83	KRT83	https://raresource.nih.gov/literature/disease/0018669	0018669	617756		C4540331		keratin 83	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 5"	None
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	mc5dn5//mitochondrial complex 5 (atp synthase) deficiency nuclear type 5//mitochondrial complex 5 (atp synthase) deficiency, atp5f1d type//mitochondrial complex v (atp synthase) deficiency//mitochondrial complex v (atp synthase) deficiency, atp5f1d type	ATP5F1D	ATP5F1D	https://raresource.nih.gov/literature/disease/0018670	0018670	618120		C4748269		ATP synthase F1 subunit delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5"	None
Generalized epilepsy with febrile seizures plus, type 10	gefs+, type 10	HCN1	HCN1	https://raresource.nih.gov/literature/disease/0018671	0018671	618482		C5193120		hyperpolarization activated cyclic nucleotide gated potassium channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy with febrile seizures plus, type 10"	None
Erythrokeratodermia variabilis et progressiva 6		TRPM4	TRPM4	https://raresource.nih.gov/literature/disease/0018672	0018672	618531		C5193144		transient receptor potential cation channel subfamily M member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 6"	None
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	mitochondrial complex v (atp synthase) deficiency, nuclear type 6	ATP5MK	ATP5MK	https://raresource.nih.gov/literature/disease/0018673	0018673	618683		C5231461		ATP synthase membrane subunit k	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6"	1
Erythrokeratodermia variabilis et progressiva 7	ekvp7	PERP	PERP	https://raresource.nih.gov/literature/disease/0018674	0018674	619209		C5543106		p53 apoptosis effector related to PMP22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 7"	None
Keratosis pilaris atrophicans	burnett schwartz berberian syndrome//kpa	LRP1	LRP1	https://raresource.nih.gov/literature/disease/0018694	0018694	604093	498	C0263428	C537412	LDL receptor related protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis pilaris atrophicans"	30
Maternally-inherited cardiomyopathy and hearing loss	maternally inherited cardiomyopathy and deafness//maternally inherited cardiomyopathy and hearing loss syndrome//maternally-inherited cardiomyopathy and deafness//mitochondrial dna-related cardiomyopathy and hearing loss//mtdna-related cardiomyopathy and deafness//mtdna-related cardiomyopathy and hearing loss//trna-lys-related cardiomyopathy-hearing loss syndrome	MT-TK	MT-TK	https://raresource.nih.gov/literature/disease/0018719	0018719		1349	C4510409		mitochondrially encoded tRNA-Lys (AAA/G)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternally-inherited cardiomyopathy and hearing loss"	None
Congenital cerebellar hypoplasia	cerebellar agenesis//cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay//chegdd//chiari 4 malformation//chiari iv malformation//isolated cerebellar agenesis//isolated cerebellar hypoplasia/agenesis//near total absence of cerebellum//subtotal absence of cerebellum	OXR1	OXR1	https://raresource.nih.gov/literature/disease/0018720	0018720	213000	1398	C5231391	C562568	oxidation resistance 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cerebellar hypoplasia"	82
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome	central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome//yoshimura takeshita syndrome//yoshimura-takeshita syndrome	KARS1	KARS1	https://raresource.nih.gov/literature/disease/0018789	0018789	619147	3240	C4512024		lysyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central nervous system calcification-deafness-tubular acidosis-anemia syndrome"	None
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	alloimmune neonatal renal disease//congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization//fetomaternal alloimmunization with antenatal glomerulopathies//fmaig//neonatal glomerulopathy due to neprilysin alloimmunization//neonatal membranous glomerulopathy with maternal nep deficiency//neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency	MME	MME	https://raresource.nih.gov/literature/disease/0018896	0018896		69063	C4511239		membrane metalloendopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization"	3
Benign paroxysmal torticollis of infancy		CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0018913	0018913		71518	C3494934		calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign paroxysmal torticollis of infancy"	5
Tubular renal disease-cardiomyopathy syndrome	kidney tubulopathy-dilated cardiomyopathy syndrome//tubular renal disease with cardiomyopathy syndrome	RRAGD	RRAGD	https://raresource.nih.gov/literature/disease/0018920	0018920		73224	C4304399		Ras related GTP binding D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tubular renal disease-cardiomyopathy syndrome"	None
Inherited obesity	genetic obesity//genetic obesity (disease)//leanness, inherited, autosomal recessive//monogenic obesity//obesity, association with, autosomal recessive//obesity, early-onset, susceptibility to, autosomal recessive//obesity, late-onset, autosomal recessive//obesity, mild, early-onset, autosomal recessive//obesity, severe, and type ii diabetes, autosomal recessive//obesity, severe, autosomal recessive//obesity, susceptibility to, autosomal recessive	PPARG;POMC;UCP3;ENPP1;ADRB3;AGRP;SDC3;NR0B2;GHRL	PPARG;POMC;UCP3;ENPP1;ADRB3;AGRP;SDC3;NR0B2;GHRL	https://raresource.nih.gov/literature/disease/0018935	0018935	601665	77828	C4054476		peroxisome proliferator activated receptor gamma; proopiomelanocortin; uncoupling protein 3; ectonucleotide pyrophosphatase/phosphodiesterase 1; adrenoceptor beta 3; agouti related neuropeptide; syndecan 3; nuclear receptor subfamily 0 group B member 2; ghrelin and obestatin prepropeptide	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inherited obesity"	566
Classical phenylketonuria	classic phenylketonuria//classic pku//hyperphenylalaninemia, type i//imbecilitus phenylpyruvica//severe phenylalanine hydroxylase deficiency	PAH	PAH	https://raresource.nih.gov/literature/disease/0018982	0018982		79254	C0751434		phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classical phenylketonuria"	319
Phakomatosis cesioflammea	phakomatosis pigmentovascularis type 2	GNAQ;GNA11	GNAQ;GNA11	https://raresource.nih.gov/literature/disease/0019023	0019023		79483	C3838883		G protein subunit alpha q; G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phakomatosis cesioflammea"	6
Phakomatosis cesiomarmorata	phakomatosis caesiomarmorata//phakomatosis pigmentovascularis type 5	GNA11	GNA11	https://raresource.nih.gov/literature/disease/0019024	0019024		79484	C3839296		G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phakomatosis cesiomarmorata"	1
Mild hyperphenylalaninemia	mhpa//mild hpa//non-pku hpa	PAH	PAH	https://raresource.nih.gov/literature/disease/0019027	0019027		79651	C5680207		phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild hyperphenylalaninemia"	75
Dysspondyloenchondromatosis		COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0019051	0019051		85198	C4302548		collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysspondyloenchondromatosis"	9
Epilepsy with myoclonic absences	ema//ema - epilepsy with myoclonic absence//epilepsy with myoclonic absence//myoclonic absence epilepsy	SLC2A1	SLC2A1	https://raresource.nih.gov/literature/disease/0019087	0019087		86911	C0393703		solute carrier family 2 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy with myoclonic absences"	123
Pseudohyperaldosteronism type 2	early-onset hypertension with exacerbation in pregnancy//hypertension due to gain-of-function mutations in the mineralocorticoid receptor//hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	NR3C2	NR3C2	https://raresource.nih.gov/literature/disease/0019093	0019093	605115	88660	C1854631	C565359	nuclear receptor subfamily 3 group C member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohyperaldosteronism type 2"	None
Hemoglobin D disease	hb-d disease//hemoglobin d-d disease	HBB	HBB	https://raresource.nih.gov/literature/disease/0019103	0019103		90039	C0272080		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin D disease"	8
Severe early-onset axonal neuropathy due to MFN2 deficiency	ar-cmt2, ouvrier type//autosomal recessive charcot-marie-tooth disease ouvrier type//autosomal recessive charcot-marie-tooth disease, ouvrier type//seoan due to mfn2 deficiency//severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency//severe early-onset axonal neuropathy due to mitofusin 2 deficiency	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0019123	0019123		90118	C4707897		mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe early-onset axonal neuropathy due to MFN2 deficiency"	None
Telangiectasia macularis eruptiva perstans	paucicellular mastocytosis//tmep - telangiectasia macularis eruptiva perstans	KIT	KIT	https://raresource.nih.gov/literature/disease/0019136	0019136		90389	C0263402		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia macularis eruptiva perstans"	79
Unilateral renal dysplasia	kidney dysplasia, unilateral//renal dysplasia, unilateral	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0019177	0019177		93172	C0431697		HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Unilateral renal dysplasia"	29
Bilateral renal dysplasia	bilateral renal dysgenesis//kidney dysplasia, bilateral//renal dysplasia, bilateral	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0019178	0019178		93173	C0431698		HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral renal dysplasia"	64
Monostotic fibrous dysplasia	jaffe-lichtenstein disease//localized osteitis fibrosa//monostotic fibrous dysplasia (disease)//monostotic fibrous dysplasia of bone//osteitis fibrosa circumscripta	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0019181	0019181		93277	C0016064	D005358	GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monostotic fibrous dysplasia"	212
Juvenile sialidosis type 2	dysmorphic sialidosis, juvenile form	NEU1	NEU1	https://raresource.nih.gov/literature/disease/0019183	0019183		93399	C5681598		neuraminidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile sialidosis type 2"	None
Congenital sialidosis type 2		NEU1	NEU1	https://raresource.nih.gov/literature/disease/0019184	0019184		93400	C5681599		neuraminidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital sialidosis type 2"	None
Pediatric systemic lupus erythematosus	sle, paediatric onset//sle, pediatric onset//systemic lupus erythematosus of childhood	SAT1	SAT1	https://raresource.nih.gov/literature/disease/0019219	0019219		93552	C1274834		spermidine/spermine N1-acetyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pediatric systemic lupus erythematosus"	36
AApoAI amyloidosis	apolipoprotein a-i amyloidosis//familial amyloid nephropathy due to apolipoprotein a-i variant//familial renal amyloidosis due to apolipoprotein a-i variant//hereditary amyloid nephropathy due to apolipoprotein a-i variant//hereditary renal amyloidosis due to apolipoprotein a-i variant	APOA1	APOA1	https://raresource.nih.gov/literature/disease/0019224	0019224		93560	C5680269		apolipoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AApoAI amyloidosis"	19
ALys amyloidosis	familial amyloid nephropathy due to lysozyme variant//familial renal amyloidosis due to lysozyme variant//hereditary amyloid nephropathy due to lysozyme variant//hereditary renal amyloidosis due to lysozyme variant//lysozyme amyloidosis	LYZ	LYZ	https://raresource.nih.gov/literature/disease/0019225	0019225		93561	C5680270		lysozyme	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALys amyloidosis"	36
AFib amyloidosis	familial amyloid nephropathy due to fibrinogen a alpha-chain variant//fibrinogen a alpha-chain amyloidosis//hereditary amyloid nephropathy due to fibrinogen a alpha-chain variant//hereditary renal amyloidosis due to fibrinogen a alpha-chain variant	FGA	FGA	https://raresource.nih.gov/literature/disease/0019226	0019226		93562	C5680267		fibrinogen alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AFib amyloidosis"	19
X-linked intellectual disability, Porteous type		PQBP1	PQBP1	https://raresource.nih.gov/literature/disease/0019239	0019239		93945	C5681616		polyglutamine binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Porteous type"	None
Hamel cerebro-palato-cardiac syndrome		PQBP1	PQBP1	https://raresource.nih.gov/literature/disease/0019240	0019240		93946	C5681615		polyglutamine binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hamel cerebro-palato-cardiac syndrome"	None
X-linked intellectual disability, Golabi-Ito-hall type		PQBP1	PQBP1	https://raresource.nih.gov/literature/disease/0019241	0019241		93947	C5681614		polyglutamine binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Golabi-Ito-hall type"	None
X-linked intellectual disability, Sutherland-Haan type		PQBP1	PQBP1	https://raresource.nih.gov/literature/disease/0019242	0019242		93950	C5681613		polyglutamine binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Sutherland-Haan type"	None
Recessive mitochondrial ataxia syndrome	miras//miras - mitochondrial recessive ataxia syndrome	POLG	POLG	https://raresource.nih.gov/literature/disease/0019251	0019251		94125	C4760799		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recessive mitochondrial ataxia syndrome"	27
Zebra body myopathy		ACTA1	ACTA1	https://raresource.nih.gov/literature/disease/0019354	0019354		97240	C0270969		actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zebra body myopathy"	7
Unilateral multicystic dysplastic kidney	unilateral mcdk//unilateral mckd (multicystic kidney disease)//unilateral multicystic renal dysplasia	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0019375	0019375		97363	C1567426		HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Unilateral multicystic dysplastic kidney"	96
Atypical chronic myeloid leukemia, BCR-ABL1 negative	acml//atypical chronic myeloid leukaemia//atypical chronic myeloid leukaemia bcr-abl1 negative//atypical chronic myeloid leukemia//atypical chronic myeloid leukemia, bcr/abl negative//atypical chronic myeloid leukemia, philadelphia chromosome (ph1) negative//atypical cml//myelodysplastic and myeloproliferative neoplasm with neutrophilia//subacute granulocytic leukaemia//subacute granulocytic leukemia//subacute myelogenous leukaemia//subacute myelogenous leukemia//subacute myeloid leukaemia//subacute myeloid leukemia	CSF3R	CSF3R	https://raresource.nih.gov/literature/disease/0019583	0019583		98824	C1292772	D054438	colony stimulating factor 3 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical chronic myeloid leukemia, BCR-ABL1 negative"	298
Refractory cytopenia with unilineage dysplasia	mds with single lineage dysplasia//mds-sld//myelodysplastic syndrome with single lineage dysplasia//ra//refractory anaemia//refractory anemia	TET2	TET2	https://raresource.nih.gov/literature/disease/0019585	0019585		98826	C2826318	D000753	tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Refractory cytopenia with unilineage dysplasia"	65537
Acute myeloid leukemia with minimal differentiation	acute granulocytic leukemia, minimal differentiation//acute myeloblastic leukaemia with minimal differentiation//acute myeloblastic leukemia with minimal differentiation//acute myeloblastic leukemia, minimal differentiation//acute myeloblastic leukemia, minimally differentiated//acute myelocytic leukaemia with minimal differentiation//acute myelocytic leukemia with minimal differentiation//acute myelocytic leukemia, minimal differentiation//acute myelogenous leukaemia with minimal differentiation//acute myelogenous leukemia with minimal differentiation//acute myelogenous leukemia, minimal differentiation//acute myeloid leukaemia with minimal differentiation (mo)//acute myeloid leukemia with minimal differentiation (mo)//acute myeloid leukemia, minimally differentiated//aml m0//aml with minimal differentiation//fab m0//m0 acute granulocytic leukaemia//m0 acute granulocytic leukaemia with minimal differentiation//m0 acute granulocytic leukemia//m0 acute granulocytic leukemia with minimal differentiation//m0 acute myeloblastic leukaemia//m0 acute myeloblastic leukemia//m0 acute myelocytic leukaemia//m0 acute myelocytic leukemia//m0 acute myelogenous leukaemia//m0 acute myelogenous leukaemia with minimal differentiation//m0 acute myelogenous leukemia//m0 acute myelogenous leukemia with minimal differentiation//m0 myeloid leukaemia//m0 myeloid leukaemia with minimal differentiation//m0 myeloid leukemia//m0 myeloid leukemia with minimal differentiation//minimally differentiated acute myeloblastic leukaemia//minimally differentiated acute myeloblastic leukemia	FLT3	FLT3	https://raresource.nih.gov/literature/disease/0019588	0019588		98832	C0522631		fms related receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia with minimal differentiation"	6
Primary mediastinal large B-cell lymphoma	b-cell diffuse large cell lymphoma of mediastinum//b-cell diffuse large cell lymphoma of the mediastinum//large cell lymphoma of the mediastinum//med-dlbcl//mediastinal (thymic) large b-cell lymphoma//mediastinal b-cell diffuse large cell lymphoma//mediastinal diffuse large cell lymphoma with sclerosis//mediastinal diffuse large-cell lymphoma with sclerosis//mediastinal large b-cell lymphoma//pmbl//pmlcl//primary mediastinal (thymic) large b-cell lymphoma//primary mediastinal clear cell lymphoma of b-cell type//thymic large b-cell lymphoma	BCL6	BCL6	https://raresource.nih.gov/literature/disease/0019589	0019589		98838	C1292754		BCL6 transcription repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary mediastinal large B-cell lymphoma"	587
Intravascular large B-cell lymphoma	angioendotheliomatosis//angioendotheliomatosis proliferans systemisata//angiotropic large cell lymphoma//angiotropic lymphoma//intravascular b-cell lymphoma//intravascular lymphomatosis//malignant angioendotheliomatosis//tappeiner-pfleger disease	BCL6	BCL6	https://raresource.nih.gov/literature/disease/0019590	0019590		98839	C0334660		BCL6 transcription repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intravascular large B-cell lymphoma"	1075
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	sm-ahn//sm-ahnmd//smahn//systemic mastocytosis with ahnmd//systemic mastocytosis with an associated haematological neoplasm//systemic mastocytosis with an associated haematological neoplasm (sm-ahn)//systemic mastocytosis with an associated hematological neoplasm//systemic mastocytosis with an associated hematological neoplasm (sm-ahn)//systemic mastocytosis with associated clonal haematological non-mast cell lineage disease//systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease//systemic mastocytosis with associated clonal hematological non-mast cell lineage disease//systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease//systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease//systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)//systemic mastocytosis with associated hematologic neoplasm//systemic mastocytosis with associated hematological clonal non-mast cell disorder	SRSF2;ASXL1;TET2;KIT	SRSF2;ASXL1;TET2;KIT	https://raresource.nih.gov/literature/disease/0019596	0019596		98849	C1301365		serine and arginine rich splicing factor 2; ASXL transcriptional regulator 1; tet methylcytosine dioxygenase 2; KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease"	80
Aggressive systemic mastocytosis	aggressive lymphadenopathic mastocytosis with eosinophilia//aggressive systemic mastocytosis (morphologic abnormality)//asm//lymphadenopathic mastocytosis with eosinophilia	RUNX1;TET2;ASXL1;SRSF2;CBL	RUNX1;TET2;ASXL1;SRSF2;CBL	https://raresource.nih.gov/literature/disease/0019597	0019597		98850	C1112486		RUNX family transcription factor 1; tet methylcytosine dioxygenase 2; ASXL transcriptional regulator 1; serine and arginine rich splicing factor 2; Cbl proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aggressive systemic mastocytosis"	310
Eyelid coloboma	cleft eyelid//coloboma of eyelid//coloboma of lid//coloboma of the eyelid//coloboma palpebrale//congenital notching of palpebral fissure//full thickness defect of the eyelid//notched eyelid//palpebral coloboma	SALL2;FZD5;ABCB6;PAX6	SALL2;FZD5;ABCB6;PAX6	https://raresource.nih.gov/literature/disease/0019605	0019605		98946	C0521573		spalt like transcription factor 2; frizzled class receptor 5; ATP binding cassette subfamily B member 6 (LAN blood group); paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Eyelid coloboma"	53
Multifocal pattern dystrophy simulating fundus flavimaculatus	multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus//multifocal pattern dystrophy simulating stargardt disease	PRPH2	PRPH2	https://raresource.nih.gov/literature/disease/0019612	0019612		99003	C4509881		peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multifocal pattern dystrophy simulating fundus flavimaculatus"	None
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	adenosine deaminase, elevated, hemolytic anaemia due to//adenosine deaminase, elevated, hemolytic anemia due to//anemia, congenital, nonspherocytic hemolytic, 9//cnsha9//erythrocyte ada, elevated, hemolytic anemia due to	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0019669	0019669	301083	99138	C1863235	C566314	GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"	None
Early-onset obesity-hyperphagia-severe developmental delay syndrome	obhd	NTRK2	NTRK2	https://raresource.nih.gov/literature/disease/0019685	0019685	613886	99704	CN322828		neurotrophic receptor tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset obesity-hyperphagia-severe developmental delay syndrome"	None
Precursor T-cell acute lymphoblastic leukemia	precursor t-cell acute lymphoblastic leukemia/lymphoma//precursor t-cell acute lymphocytic leukaemia//precursor t-cell acute lymphocytic leukemia//precursor t-cell acute lymphocytic leukemia/lymphoma//t-all	CNOT3;FLT3;CDKN2A	CNOT3;FLT3;CDKN2A	https://raresource.nih.gov/literature/disease/0019694	0019694		99861	CN294276		CCR4-NOT transcription complex subunit 3; fms related receptor tyrosine kinase 3; cyclin dependent kinase inhibitor 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Precursor T-cell acute lymphoblastic leukemia"	4335
Acute megakaryoblastic leukemia in down syndrome	ds-amkl	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0019697	0019697		99887	C5925108		GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute megakaryoblastic leukemia in down syndrome"	58
Maligant granulosa cell tumor of ovary	adult ovarian granulosa cell tumor//adult ovarian granulosa cell tumour//cancer of granulosa cell//granulosa cell cancer//granulosa cell malignant tumor//granulosa cell malignant tumour//maligant granulosa cell tumor of the ovary//malignant granulosa cell neoplasm//malignant granulosa cell neoplasm of ovary//malignant granulosa cell neoplasm of the ovary//malignant granulosa cell tumor of ovary//malignant granulosa cell tumor of the ovary//malignant granulosa cell tumour of ovary//malignant granulosa cell tumour of the ovary//malignant ovarian granulosa cell neoplasm//malignant ovarian granulosa cell tumor//malignant ovarian granulosa cell tumour//ovarian granulosa cell tumor of adults//ovarian granulosa cell tumour of adults	FOXL2	FOXL2	https://raresource.nih.gov/literature/disease/0019707	0019707		99915	C0346175		forkhead box L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maligant granulosa cell tumor of ovary"	18
Intermediate DEND syndrome	developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form//developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form//intermediate dend (developmental delay, epilepsy, neonatal diabetes) syndrome	KCNJ11	KCNJ11	https://raresource.nih.gov/literature/disease/0019724	0019724		99989	C5680423		potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate DEND syndrome"	3
Myelodysplastic syndrome with excess blasts-1	mds-eb-1//mds-eb-1 - myelodysplastic syndrome with excess blasts-1//myelodysplastic neoplasm with increased blasts-1//raeb-1//raeb-i//refractory anemia with excess blasts i//refractory anemia with excess blasts type 1//refractory anemia with excess blasts-1	TET2	TET2	https://raresource.nih.gov/literature/disease/0019737	0019737		100019	C1318550		tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myelodysplastic syndrome with excess blasts-1"	5
Myelodysplastic syndrome with excess blasts-2	mds-eb-2//mds-eb-2 - myelodysplastic syndrome with excess blasts-2//myelodysplastic syndrome acute myeloid leukemia//raeb-2//raeb-ii//refractory anemia with excess blasts type 2//refractory anemia with excess blasts-2	TET2	TET2	https://raresource.nih.gov/literature/disease/0019738	0019738		100020	C4704767		tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myelodysplastic syndrome with excess blasts-2"	23
FRAXF syndrome		TMEM185A	TMEM185A	https://raresource.nih.gov/literature/disease/0019769	0019769		100974	C4274329		transmembrane protein 185A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FRAXF syndrome"	None
Myopathic intestinal pseudoobstruction		ACTG2	ACTG2	https://raresource.nih.gov/literature/disease/0019853	0019853		104077	C5681739		actin gamma 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathic intestinal pseudoobstruction"	1
Progressive cavitating leukoencephalopathy		NDUFV2	NDUFV2	https://raresource.nih.gov/literature/disease/0019918	0019918		139447	C4304840		NADH:ubiquinone oxidoreductase core subunit V2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive cavitating leukoencephalopathy"	6
Neuropathy with hearing impairment	peripheral neuropathy with sensorineural hearing impairment syndrome	GJB3	GJB3	https://raresource.nih.gov/literature/disease/0019919	0019919		139512	C4509933		gap junction protein beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy with hearing impairment"	None
Acral dystrophic epidermolysis bullosa	acral deb (dystrophic epidermolysis bullosa)//deb, acral//deb-ac//localized deb, acral form//localized dystrophic epidermolysis bullosa, acral form	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0020031	0020031		158673	C4518087		collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acral dystrophic epidermolysis bullosa"	None
Dystrophic epidermolysis bullosa, nails only	deb-na//localized deb, nails only//localized dystrophic epidermolysis bullosa, nails only//nails only deb (dystrophic epidermolysis bullosa)//nails-only ddeb//nails-only deb	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0020032	0020032		158676	C4302547		collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystrophic epidermolysis bullosa, nails only"	1
Typical urticaria pigmentosa		KIT	KIT	https://raresource.nih.gov/literature/disease/0020033	0020033		158766	C5680683		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Typical urticaria pigmentosa"	None
Plaque-form urticaria pigmentosa		KIT	KIT	https://raresource.nih.gov/literature/disease/0020034	0020034		158769	C5680682		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Plaque-form urticaria pigmentosa"	None
Nodular urticaria pigmentosa		KIT	KIT	https://raresource.nih.gov/literature/disease/0020035	0020035		158772	C5680684		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nodular urticaria pigmentosa"	1
Smouldering systemic mastocytosis	smoldering systemic mastocytosis//ssm - smoldering systemic mastocytosis	KIT	KIT	https://raresource.nih.gov/literature/disease/0020036	0020036		158775	C3897042		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smouldering systemic mastocytosis"	15
Isolated bone marrow mastocytosis		KIT	KIT	https://raresource.nih.gov/literature/disease/0020037	0020037		158778	C4509020		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated bone marrow mastocytosis"	3
Porokeratotic eccrine ostial and dermal duct nevus	comedo nevus of the palm//linear eccrine nevi with comedones//linear eccrine nevus with comedones//porokeratotic eccrine duct and hair follicle nevus//porokeratotic eccrine nevus	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0020070	0020070		166286	C0473579		gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratotic eccrine ostial and dermal duct nevus"	63
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome		EOMES	EOMES	https://raresource.nih.gov/literature/disease/0020125	0020125		171703	C4750772		eomesodermin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"	None
Osteosclerosis-developmental delay-craniosynostosis syndrome		LRP5	LRP5	https://raresource.nih.gov/literature/disease/0020147	0020147		178377	C4302818		LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteosclerosis-developmental delay-craniosynostosis syndrome"	None
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	'antithrombin' pittsburgh//pi pittsburgh	SERPINA1	SERPINA1	https://raresource.nih.gov/literature/disease/0020148	0020148		178396	C5190706		serpin family A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"	None
Hyperalphalipoproteinemia	halp1//high blood hdl level	SCARB1;CETP;APOC3	SCARB1;CETP;APOC3	https://raresource.nih.gov/literature/disease/0020230	0020230		181428	C0342883		scavenger receptor class B member 1; cholesteryl ester transfer protein; apolipoprotein C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperalphalipoproteinemia"	131
Aplastic anemia	aplastic anaemia//erythroid aplasia//hematopoietic aplasia//non regenerative anemia	SBDS;PRF1;NBN;TERT;IFNG	SBDS;PRF1;NBN;TERT;IFNG	https://raresource.nih.gov/literature/disease/0020234	0020234		182040	C0002874	D000741	SBDS ribosome maturation factor; perforin 1; nibrin; telomerase reverse transcriptase; interferon gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aplastic anemia"	9269
Isolated autosomal dominant hypomagnesemia, Glaudemans type		KCNA1	KCNA1	https://raresource.nih.gov/literature/disease/0020334	0020334		199326	C4305155		potassium voltage-gated channel subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated autosomal dominant hypomagnesemia, Glaudemans type"	None
Congenital myopathy, Paradas type	congenital muscular dystrophy paradas type	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0020335	0020335		199329	C4511057		dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy, Paradas type"	None
Infantile Krabbe disease	early onset krabbe disease//early symptomatic krabbe disease//early-onset krabbe disease//familial infantile diffuse brain sclerosis//galactocerebroside beta-galactosidase deficiency - early onset//globoid cell leukodystrophy, early onset//infantile onset krabbe disease//infantile-onset krabbe disease//krabbe disease, classic form//krabbe disease, early-onset	GALC;PSAP	GALC;PSAP	https://raresource.nih.gov/literature/disease/0020343	0020343		206436	C0751273		galactosylceramidase; prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile Krabbe disease"	40
Late-infantile/juvenile Krabbe disease	krabbe disease, late-onset	GALC	GALC	https://raresource.nih.gov/literature/disease/0020344	0020344		206443	CN200855		galactosylceramidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-infantile/juvenile Krabbe disease"	None
Adult Krabbe disease	adult type krabbe disease//adult-type globoid cell leukodystrophy//adult-type krabbe's disease//galactocerebroside beta-galactosidase deficiency - late onset//globoid cell leucodystrophy late onset//globoid cell leukodystrophy, late-onset//krabbe disease of adults//late onset krabbe disease	GALC	GALC	https://raresource.nih.gov/literature/disease/0020345	0020345		206448	C0268252		galactosylceramidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult Krabbe disease"	4
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	symptomatic form of muscular dystrophy of duchenne and becker in female carrier	DMD	DMD	https://raresource.nih.gov/literature/disease/0020350	0020350		206546	C4707359		dystrophin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"	None
Isolated asymptomatic elevation of creatine phosphokinase	hyperckmia//idiopathic asymptomatic hyperckemia//isolated asymptomatic hyperckemia//isolated hyperckemia	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0020356	0020356	123320	206599	C4751434		caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated asymptomatic elevation of creatine phosphokinase"	16
Qualitative or quantitative defects of alpha-sarcoglycan	alpha-sarcoglycanopathy	SGCA	SGCA	https://raresource.nih.gov/literature/disease/0020390	0020390		207060	C5680808		sarcoglycan alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Qualitative or quantitative defects of alpha-sarcoglycan"	24
Qualitative or quantitative defects of beta-sarcoglycan	beta-sarcoglycanopathy	SGCB	SGCB	https://raresource.nih.gov/literature/disease/0020391	0020391		207063	C2930900	C535435	sarcoglycan beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Qualitative or quantitative defects of beta-sarcoglycan"	13
Qualitative or quantitative defects of gamma-sarcoglycan		SGCG	SGCG	https://raresource.nih.gov/literature/disease/0020392	0020392		207067	C5680805		sarcoglycan gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Qualitative or quantitative defects of gamma-sarcoglycan"	None
Qualitative or quantitative defects of delta-sarcoglycan	delta-sarcoglycanopathy	SGCD	SGCD	https://raresource.nih.gov/literature/disease/0020393	0020393		207070	C5680806		sarcoglycan delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Qualitative or quantitative defects of delta-sarcoglycan"	3
Caveolinopathy	qualitative or quantitative defects of caveolin-3	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0020394	0020394		207078	C5679790		caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Caveolinopathy"	27
Neuromuscular disease caused by qualitative or quantitative defects of perlecan	qualitative or quantitative defects of perlecan	HSPG2	HSPG2	https://raresource.nih.gov/literature/disease/0020398	0020398		207101	C5680831		heparan sulfate proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disease caused by qualitative or quantitative defects of perlecan"	None
Neuromuscular disease caused by qualitative or quantitative defects of TRIM32	qualitative or quantitative defects of trim32	TRIM32	TRIM32	https://raresource.nih.gov/literature/disease/0020400	0020400		207107	C5680829		tripartite motif containing 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disease caused by qualitative or quantitative defects of TRIM32"	None
Spinocerebellar ataxia 7	adca, type ii//adca2//adcaii//ataxia with pigmentary retinopathy//atxn7 autosomal dominant cerebellar ataxia type ii//autosomal dominant cerebellar ataxia type 2//autosomal dominant cerebellar ataxia type ii//autosomal dominant cerebellar ataxia type ii caused by mutation in atxn7//cerebellar syndrome pigmentary maculopathy//cerebellar syndrome-pigmentary maculopathy syndrome//olivopontocerebellar atrophy iii//opca iii//opca with macular degeneration and external ophthalmoplegia//opca with retinal degeneration//sca7//spinocerebellar ataxia type 7	ATXN7	ATXN7	https://raresource.nih.gov/literature/disease/0020405	0020405	164500		C0752125		ataxin 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 7"	285
Qualitative or quantitative defects of desmin		DES	DES	https://raresource.nih.gov/literature/disease/0020426	0020426		209041	C5680839		desmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Qualitative or quantitative defects of desmin"	None
Neuromuscular disease caused by qualitative or quantitative defects of telethonin	qualitative or quantitative defects of telethonin	TCAP	TCAP	https://raresource.nih.gov/literature/disease/0020431	0020431		209056	C5680842		titin-cap	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disease caused by qualitative or quantitative defects of telethonin"	None
Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	qualitative or quantitative defects of beta-myosin heavy chain (myh7)	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0020434	0020434		209185	C5680832		myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"	None
Neuromuscular disease caused by qualitative or quantitative defects of plectin	qualitative or quantitative defects of plectin	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0020437	0020437		209196	C5680835		plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disease caused by qualitative or quantitative defects of plectin"	None
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		CYP7A1	CYP7A1	https://raresource.nih.gov/literature/disease/0020441	0020441		209902	C4751204		cytochrome P450 family 7 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"	None
Ovarian adenocarcinoma	adenocarcinoma of ovary//adenocarcinoma of the ovary//ovary adenocarcinoma	INHBA	INHBA	https://raresource.nih.gov/literature/disease/0020466	0020466		213504	C0948216		inhibin subunit beta A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian adenocarcinoma"	1038
Niemann-Pick disease type C, severe perinatal form		NPC1;NPC2	NPC1;NPC2	https://raresource.nih.gov/literature/disease/0020504	0020504		216972	C5680866		NPC intracellular cholesterol transporter 1; NPC intracellular cholesterol transporter 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease type C, severe perinatal form"	None
Niemann-Pick disease type C, severe early infantile neurologic onset		NPC2;NPC1	NPC2;NPC1	https://raresource.nih.gov/literature/disease/0020505	0020505		216975	C5680868		NPC intracellular cholesterol transporter 2; NPC intracellular cholesterol transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease type C, severe early infantile neurologic onset"	None
Niemann-Pick disease type C, late infantile neurologic onset		NPC2;NPC1	NPC2;NPC1	https://raresource.nih.gov/literature/disease/0020506	0020506		216978	C5680867		NPC intracellular cholesterol transporter 2; NPC intracellular cholesterol transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease type C, late infantile neurologic onset"	None
Niemann-Pick disease type C, juvenile neurologic onset	niemann-pick disease type c, classic form	NPC2;NPC1	NPC2;NPC1	https://raresource.nih.gov/literature/disease/0020507	0020507		216981	C5679813		NPC intracellular cholesterol transporter 2; NPC intracellular cholesterol transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease type C, juvenile neurologic onset"	None
Niemann-Pick disease type C, adult neurologic onset		NPC2;NPC1	NPC2;NPC1	https://raresource.nih.gov/literature/disease/0020508	0020508		216986	C5680869		NPC intracellular cholesterol transporter 2; NPC intracellular cholesterol transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease type C, adult neurologic onset"	None
Hypothyroidism due to deficient transcription factors involved in pituitary development or function	hypothyroidism due to mutation in transcription factor of pituitary development	LHX3;LHX4;PROP1;POU1F1;HESX1	LHX3;LHX4;PROP1;POU1F1;HESX1	https://raresource.nih.gov/literature/disease/0020562	0020562		226307	C4273672		LIM homeobox 3; LIM homeobox 4; PROP paired-like homeobox 1; POU class 1 homeobox 1; HESX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism due to deficient transcription factors involved in pituitary development or function"	None
Hemoglobin C-beta-thalassemia syndrome	c-beta-thalassemia//hbc-beta-thalassemia syndrome//hemoglobin c-f disease//thalassemia-hemoglobin c disease	HBB	HBB	https://raresource.nih.gov/literature/disease/0020608	0020608		231242	C0221020		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin C-beta-thalassemia syndrome"	3
Hemoglobin E/beta thalassemia disease	beta e thalassemia//double heterozygous for hb e and beta thalassemia//e-beta-thalassemia//hbe-beta-thalassemia syndrome//hemoglobin e-beta-thalassemia syndrome	HBB	HBB	https://raresource.nih.gov/literature/disease/0020609	0020609		231249	C0472777		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin E/beta thalassemia disease"	29
Apolipoprotein A-II amyloidosis	aapoaii amyloidosis//familial amyloid nephropathy due to apolipoprotein a-ii variant//familial renal amyloidosis due to apolipoprotein a-ii variant//hereditary amyloid nephropathy due to apolipoprotein a-ii variant//hereditary renal amyloidosis due to apolipoprotein a-ii variant	APOA2	APOA2	https://raresource.nih.gov/literature/disease/0020631	0020631		238269	C5679845		apolipoprotein A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Apolipoprotein A-II amyloidosis"	18
Autosomal recessive secondary polycythemia not associated with VHL gene	autosomal recessive secondary erythrocytosis not associated with vhl gene//autosomal recessive secondary erythrocytosis, non-chuvash type//autosomal recessive secondary polycythemia, non-chuvash type	BPGM	BPGM	https://raresource.nih.gov/literature/disease/0020658	0020658		247378	CN226972		bisphosphoglycerate mutase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive secondary polycythemia not associated with VHL gene"	None
Acute neonatal citrullinemia type I	acute neonatal citrullinemia type 1//classic citrullinemia type 1//classic citrullinemia type i	ASS1	ASS1	https://raresource.nih.gov/literature/disease/0020659	0020659		247546	C5679618		argininosuccinate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute neonatal citrullinemia type I"	None
Adult-onset citrullinemia type I	adult-onset citrullinemia type 1//late-onset citrullinemia type 1//late-onset citrullinemia type i	ASS1	ASS1	https://raresource.nih.gov/literature/disease/0020660	0020660		247573	CN201794		argininosuccinate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset citrullinemia type I"	None
Autosomal recessive ataxia due to PEX10 deficiency	mild peroxismal disorder due to pex10 deficiency//mild peroxisomal disorder due to pex10 deficiency	PEX10	PEX10	https://raresource.nih.gov/literature/disease/0020666	0020666		247815	C5679614		peroxisomal biogenesis factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia due to PEX10 deficiency"	None
Isolated delta-storage pool disease	isolated delta-spd//isolated dense-spd//isolated dense-storage pool disease	FLI1	FLI1	https://raresource.nih.gov/literature/disease/0020674	0020674		248340	CN201837		Fli-1 proto-oncogene, ETS transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated delta-storage pool disease"	None
Polymicrogyria with optic nerve hypoplasia		TUBA8	TUBA8	https://raresource.nih.gov/literature/disease/0020687	0020687		250972	C2750798	C567715	tubulin alpha 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polymicrogyria with optic nerve hypoplasia"	None
Sickle cell-hemoglobin E disease syndrome	double heterozygous for hb s + hb e//hbs-hbe disease//hbse disease//hemoglobin s-e disease//hemoglobin s/e disease//sickle cell anemia with hemoglobin e disease//sickle cell-hemoglobin e disease	HBB	HBB	https://raresource.nih.gov/literature/disease/0020700	0020700		251375	C1112747		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sickle cell-hemoglobin E disease syndrome"	11
Giant cell glioblastoma	monstrocellular sarcoma//monstrocellular sarcoma [obs]	LZTR1	LZTR1	https://raresource.nih.gov/literature/disease/0020705	0020705		251579	C0334588		leucine zipper like post translational regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Giant cell glioblastoma"	130
Pilomyxoid astrocytoma		KRAS;FGFR1;BRAF	KRAS;FGFR1;BRAF	https://raresource.nih.gov/literature/disease/0020710	0020710		251615	C1519086		KRAS proto-oncogene, GTPase; fibroblast growth factor receptor 1; B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pilomyxoid astrocytoma"	141
Partial hydatidiform mole	incomplete hydatid mole//incomplete hydatidiform mole//incomplete molar pregnancy//partial hydatid mole//partial molar pregnancy//partial mole//phm - partial hydatidiform mole	NLRP7;KHDC3L	NLRP7;KHDC3L	https://raresource.nih.gov/literature/disease/0020749	0020749		254693	C0334529		NLR family pyrin domain containing 7; KH domain containing 3 like, subcortical maternal complex member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial hydatidiform mole"	539
21q22.11q22.12 microdeletion syndrome	del(21)(q22.11q22.12)//monosomy 21q22.11-q22.12//monosomy 21q22.11q22.12	KIF15	KIF15	https://raresource.nih.gov/literature/disease/0020779	0020779		261323	C5192593		kinesin family member 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=21q22.11q22.12 microdeletion syndrome"	None
Okihiro syndrome due to a point mutation	duane-radial ray syndrome due to a point mutation	SALL4	SALL4	https://raresource.nih.gov/literature/disease/0020788	0020788		261647	C5679683		spalt like transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Okihiro syndrome due to a point mutation"	None
Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome//infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	SLC19A3	SLC19A3	https://raresource.nih.gov/literature/disease/0020899	0020899		263410	C5190692		solute carrier family 19 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"	None
Hyperinsulinism due to HNF4A deficiency	congenital hyperinsulinism due to hnf4a deficiency//hyperinsulinemic hypoglycemia due to hnf4a deficiency//hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	HNF4A	HNF4A	https://raresource.nih.gov/literature/disease/0020903	0020903		263455	C4274078		hepatocyte nuclear factor 4 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to HNF4A deficiency"	None
Occipital encephalocele	brain tissue sticks out through back of skull//occipital meningoencephalocele//posterior encephalocele	DACT1	DACT1	https://raresource.nih.gov/literature/disease/0020969	0020969		268823	C0014067		dishevelled binding antagonist of beta catenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Occipital encephalocele"	370
Isolated focal cortical dysplasia type Ia	fcd type ia	SLC35A2	SLC35A2	https://raresource.nih.gov/literature/disease/0020984	0020984		268973	C5679767		solute carrier family 35 member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated focal cortical dysplasia type Ia"	4
Isolated Dandy-Walker malformation without hydrocephalus		NID1	NID1	https://raresource.nih.gov/literature/disease/0020994	0020994		269215	C5680778		nidogen 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated Dandy-Walker malformation without hydrocephalus"	None
Congenital communicating hydrocephalus	congenital non-obstructive hydrocephalus	TRIM71;MPDZ	TRIM71;MPDZ	https://raresource.nih.gov/literature/disease/0020998	0020998		269505	C5679774		tripartite motif containing 71; multiple PDZ domain crumbs cell polarity complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital communicating hydrocephalus"	15
Malignant epithelial tumor of salivary glands	malignant epithelial neoplasm of salivary gland	PRKD1	PRKD1	https://raresource.nih.gov/literature/disease/0021043	0021043		276145	C5190832		protein kinase D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malignant epithelial tumor of salivary glands"	1
Mucopolysaccharidosis type 6, rapidly progressing	arylsulfatase b deficiency, rapidly progressing//mps6, rapidly progressing//mpsvi, rapidly progressing//mucopolysaccharidosis type vi, rapidly progressing	ARSB	ARSB	https://raresource.nih.gov/literature/disease/0021046	0021046		276212	C5679781		arylsulfatase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 6, rapidly progressing"	None
Mucopolysaccharidosis type 6, slowly progressing	arylsulfatase b deficiency, slowly progressing//mps6, slowly progressing//mpsvi, slowly progressing//mucopolysaccharidosis type vi, slowly progressing	ARSB	ARSB	https://raresource.nih.gov/literature/disease/0021047	0021047		276223	C5679780		arylsulfatase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 6, slowly progressing"	None
Machado-Joseph disease type 1	azorean disease, type i//sca3, joseph type//spinocerebellar ataxia type 3, joseph type	ATXN3	ATXN3	https://raresource.nih.gov/literature/disease/0021048	0021048		276238	C0751668		ataxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Machado-Joseph disease type 1"	None
Machado-Joseph disease type 2	azorean disease, type ii//sca3, thomas type//spinocerebellar ataxia, thomas type	ATXN3	ATXN3	https://raresource.nih.gov/literature/disease/0021049	0021049		276241	C0751669		ataxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Machado-Joseph disease type 2"	None
Machado-Joseph disease type 3	azorean disease, type iii//sca3, machado type//spinocerebellar ataxia type 3, machado type	ATXN3	ATXN3	https://raresource.nih.gov/literature/disease/0021050	0021050		276244	C0751670		ataxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Machado-Joseph disease type 3"	None
Hemihyperplasia-multiple lipomatosis syndrome	hemihyperplasia with multiple lipomatosis syndrome//hhml//hhml (hemihyperplasia multiple lipomatosis) syndrome	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0021051	0021051		276280	C4749904		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemihyperplasia-multiple lipomatosis syndrome"	10
Hyperinsulinism due to UCP2 deficiency	hyperinsulinemic hypoglycemia due to ucp2 deficiency//hyperinsulinism due to ucp2 (uncoupling protein 2) deficiency//hyperinsulinism due to uncoupling protein 2 deficiency	UCP2	UCP2	https://raresource.nih.gov/literature/disease/0021054	0021054		276556	C4303082		uncoupling protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to UCP2 deficiency"	None
Symptomatic form of Coffin-Lowry syndrome in female carriers	symptomatic form of coffin-lowry syndrome in female carrier	RPS6KA3	RPS6KA3	https://raresource.nih.gov/literature/disease/0021057	0021057		276630	C5680787		ribosomal protein S6 kinase A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symptomatic form of Coffin-Lowry syndrome in female carriers"	None
Pelizaeus-Merzbacher disease, classic form	classic pmd//type i classic pelizaeus-merzbacher disease	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0021073	0021073		280219	C0751916		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus-Merzbacher disease, classic form"	4
Pelizaeus-Merzbacher disease, transitional form	transitional pmd	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0021074	0021074		280224	C0751917		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus-Merzbacher disease, transitional form"	1
Pelizaeus-Merzbacher disease in female carriers	pelizaeus-merzbacher disease in female carrier	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0021075	0021075		280229	C5438815		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus-Merzbacher disease in female carriers"	None
Autosomal semi-dominant severe lipodystrophic laminopathy		LMNA	LMNA	https://raresource.nih.gov/literature/disease/0021080	0021080		280365	C5680783		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal semi-dominant severe lipodystrophic laminopathy"	None
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome//idmdc	ERLIN2	ERLIN2	https://raresource.nih.gov/literature/disease/0021083	0021083		280384	C4749580		ER lipid raft associated 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"	None
Familial Alzheimer-like prion disease		PRNP	PRNP	https://raresource.nih.gov/literature/disease/0021084	0021084		280397	C4303482		prion protein (Kanno blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial Alzheimer-like prion disease"	None
Bullous diffuse cutaneous mastocytosis	bullous dcm	KIT	KIT	https://raresource.nih.gov/literature/disease/0021088	0021088		280785	C5546764		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bullous diffuse cutaneous mastocytosis"	1
Pseudoxanthomatous diffuse cutaneous mastocytosis	infiltrative small vesicular dcm//infiltrative small vesicular diffuse cutaneous mastocytosis//pseudoxanthomatous dcm	KIT	KIT	https://raresource.nih.gov/literature/disease/0021089	0021089		280794	C5679949		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudoxanthomatous diffuse cutaneous mastocytosis"	None
Acral self-healing collodion baby	acral shcb	TGM1	TGM1	https://raresource.nih.gov/literature/disease/0021108	0021108		281127	C4305324		transglutaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acral self-healing collodion baby"	None
Neonatal Marfan syndrome	neonatal mfs	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0021128	0021128		284979	C4016054		fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal Marfan syndrome"	80
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation//early-onset epileptic encephalopathy and intellectual disability due to grin2a (glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a) mutation//epilepsy, focal, with speech disorder and with or without impaired intellectual development	GRIN2A	GRIN2A	https://raresource.nih.gov/literature/disease/0021134	0021134		289266	C4749281		glutamate ionotropic receptor NMDA type subunit 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"	None
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	pash (pyoderma gangrenosum, acne, suppurative hidradenitis) syndrome//pash syndrome	NCSTN	NCSTN	https://raresource.nih.gov/literature/disease/0021139	0021139		289478	C5191642		nicastrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"	36
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	inherited isolated adrenal insufficiency due to partial cytochrome p450 family 11 subfamily a member 1 deficiency	CYP11A1	CYP11A1	https://raresource.nih.gov/literature/disease/0021143	0021143		289548	C4707238		cytochrome P450 family 11 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"	None
Pleomorphic rhabdomyosarcoma	anaplastic rhabdomyosarcoma//pleomorphic rhabdomyosarcoma, adult type	TP53;NF1	TP53;NF1	https://raresource.nih.gov/literature/disease/0021165	0021165		293199	C0334480		tumor protein p53; neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pleomorphic rhabdomyosarcoma"	187
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	bh4-responsive hpa/pku//bh4-responsive hyperphenylalaninemia/phenylketonuria//tetrahydrobiopterin-responsive hpa/pku	PAH	PAH	https://raresource.nih.gov/literature/disease/0021166	0021166		293284	C5679945		phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"	None
Zygodactyly type 3	sd1, montagu type//sd1c//syndactyly type 1, montagu type//syndactyly type 1c//zygodactyly, montagu type	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0021215	0021215		295191	C5679983		homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zygodactyly type 3"	1
Congenital vertical talus, unilateral		HOXD10	HOXD10	https://raresource.nih.gov/literature/disease/0021217	0021217		295201	C5681089		homeobox D10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital vertical talus, unilateral"	None
Congenital vertical talus, bilateral	bilateral congenital vertical talus//congenital vertical talus deformity of bilateral ankles and feet//congenital vertical talus deformity of both ankles and feet	HOXD10	HOXD10	https://raresource.nih.gov/literature/disease/0021218	0021218		295203	C1860446		homeobox D10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital vertical talus, bilateral"	3
Macrodactyly of fingers, unilateral	macrodactyly of hand, unilateral	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0021227	0021227		295239	C5679987		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrodactyly of fingers, unilateral"	None
Macrodactyly of toes, unilateral	macrodactyly of foot, unilateral	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0021229	0021229		295243	C5679988		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrodactyly of toes, unilateral"	None
ALK-positive anaplastic large cell lymphoma	alcl, alk+//alk+ alcl//alk+ anaplastic large cell lymphoma//alkoma//anaplastic large cell lymphoma, alk-positive	ALK	ALK	https://raresource.nih.gov/literature/disease/0021251	0021251		300895	C1332079		ALK receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALK-positive anaplastic large cell lymphoma"	264
Glycogen storage disease due to acid maltase deficiency, infantile onset	alpha-1,4-glucosidase acid deficiency, infantile onset//glycogen storage disease type 2, infantile onset//glycogen storage disease type ii infantile onset//glycogen storage disease type ii, infantile onset//glycogenosis due to acid maltase deficiency, infantile onset//glycogenosis type 2, infantile onset//glycogenosis type ii, infantile onset//gsd due to acid maltase deficiency, infantile onset//gsd type 2, infantile onset//gsd type ii, infantile onset//pompe disease, infantile onset	GAA	GAA	https://raresource.nih.gov/literature/disease/0021310	0021310		308552	C3888924		alpha glucosidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to acid maltase deficiency, infantile onset"	None
Inborn glycerol kinase deficiency	deficiency of glycerol kinase//familial hyperglycerolemia//gk deficiency//gk1 deficiency//gkd - glycerol kinase deficiency//glycerol kinase deficiency//glycerol kinase deficiency, x-linked recessive//hyperglycerolemia//inborn error of glycerol kinase activity//inborn glycerol kinase activity disorder//pseudohypertriglyceridemia//rare inborn error of glycerol kinase activity	GK	GK	https://raresource.nih.gov/literature/disease/0021311	0021311		308993	C0268418		glycerol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inborn glycerol kinase deficiency"	180
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	3-hydroxyacyl-coa dehydrogenase deficiency//3-hydroxyacyl-coenzyme a dehydrogenase deficiency//deficiency of beta-hydroxyacyl dehydrogenase//deficiency of beta-keto-reductase//hadh deficiency	HADH	HADH	https://raresource.nih.gov/literature/disease/0021319	0021319	231530	309127	C1291230	C535310	hydroxyacyl-CoA dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of 3-hydroxyacyl-CoA dehydrogenase"	18
Tay-Sachs disease, b variant, infantile form	gm2 gangliosidosis, b variant, infantile form//hexosaminidase a deficiency, infantile form	HEXA	HEXA	https://raresource.nih.gov/literature/disease/0021324	0021324		309178	C5925031		hexosaminidase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tay-Sachs disease, b variant, infantile form"	None
Tay-Sachs disease, b variant, juvenile form	gm2 gangliosidosis, b variant, juvenile form//hexosaminidase a deficiency, juvenile form	HEXA	HEXA	https://raresource.nih.gov/literature/disease/0021325	0021325		309185	C5925030		hexosaminidase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tay-Sachs disease, b variant, juvenile form"	None
Tay-Sachs disease, B variant, adult form	chronic and adult-onset hexosaminidase a deficiency//gm2 gangliosidosis, b variant, adult form//hexosaminidase a deficiency, adult form//hexosaminidase a deficiency, adult type	HEXA	HEXA	https://raresource.nih.gov/literature/disease/0021326	0021326		309192	C1848914		hexosaminidase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tay-Sachs disease, B variant, adult form"	None
Metachromatic leukodystrophy, late infantile form	arylsulfatase a deficiency, late infantile form//greenfield disease//late infantile metachromatic leucodystrophy//metachromatic leukodystrophy, congenital type//metachromatic leukodystrophy, late infantile//metachromatic leukodystrophy, late infantile type//mld, late infantile form	ARSA;PSAP	ARSA;PSAP	https://raresource.nih.gov/literature/disease/0021328	0021328		309256	C0751278		arylsulfatase A; prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metachromatic leukodystrophy, late infantile form"	6
Metachromatic leukodystrophy, juvenile type	arylsulfatase a deficiency, juvenile form//juvenile metachromatic leucodystrophy//metachromatic leukodystrophy, juvenile form//mld, juvenile form	ARSA	ARSA	https://raresource.nih.gov/literature/disease/0021329	0021329		309263	C0751276		arylsulfatase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metachromatic leukodystrophy, juvenile type"	None
Metachromatic leukodystrophy, adult type	adult metachromatic leucodystrophy//adult metachromatic leukodystrophy//arylsulfatase a deficiency, adult form//metachromatic leukodystrophy, adult form//mld, adult form	ARSA;PSAP	ARSA;PSAP	https://raresource.nih.gov/literature/disease/0021330	0021330		309271	C0751279		arylsulfatase A; prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metachromatic leukodystrophy, adult type"	17
High bone mass osteogenesis imperfecta	high bone mass oi	COL1A2;BMP1;COL1A1	COL1A2;BMP1;COL1A1	https://raresource.nih.gov/literature/disease/0021366	0021366		314029	C5190607		collagen type I alpha 2 chain; bone morphogenetic protein 1; collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=High bone mass osteogenesis imperfecta"	1
Variant ABeta2M amyloidosis	autosomal dominant beta2-microglobulinic amyloidosis	B2M	B2M	https://raresource.nih.gov/literature/disease/0021382	0021382		314652	C4302669		beta-2-microglobulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Variant ABeta2M amyloidosis"	None
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	5q31.3 microdeletion syndrome//del(5)(q31.3)//monosomy 5q31.3	PURA	PURA	https://raresource.nih.gov/literature/disease/0021383	0021383		314655	C4708510		purine rich element binding protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"	3
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia		PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0021384	0021384		314662	C5192432		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"	None
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	classic 21-ohd cah, salt wasting form	CYP21A2	CYP21A2	https://raresource.nih.gov/literature/disease/0021398	0021398		315306	C5679896		cytochrome P450 family 21 subfamily A member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"	None
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	classic 21-ohd cah, simple virilizing form	CYP21A2	CYP21A2	https://raresource.nih.gov/literature/disease/0021399	0021399		315311	C5679895		cytochrome P450 family 21 subfamily A member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"	None
Diencephalic-mesencephalic junction dysplasia	diencephalic-mesencephalic junction dysplasia syndrome	GSX2;PCDH12	GSX2;PCDH12	https://raresource.nih.gov/literature/disease/0021407	0021407		319192	C4707858		GS homeobox 2; protocadherin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diencephalic-mesencephalic junction dysplasia"	17
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	autosomal dominant mendelian susceptibility to mycobacterial disease due to partial ifngammar2 deficiency//autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency//autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in ifngr2//autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency//autosomal dominant msmd due to partial ifngammar2 deficiency//autosomal dominant msmd due to partial interferon gamma receptor 2 deficiency//ifngr2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	IFNGR2	IFNGR2	https://raresource.nih.gov/literature/disease/0021425	0021425		319589	C4510875		interferon gamma receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"	None
Maternally-inherited spastic paraplegia	maternally-inherited spg//mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial spastic paraplegia//mt-atp6-related mitochondrial spastic paraplegia	MT-ATP6	MT-ATP6	https://raresource.nih.gov/literature/disease/0021433	0021433		320360	C4755299		mitochondrially encoded ATP synthase membrane subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternally-inherited spastic paraplegia"	None
Multiple paragangliomas associated with polycythemia	multiple paraganglioma associated with erythrocytosis//multiple paraganglioma associated with polycythemia//multiple paragangliomas associated with erythrocytosis//paraganglioma, somatostatinoma, polycythemia syndrome//paraganglioma-somatostatinoma-polycythemia syndrome	EPAS1	EPAS1	https://raresource.nih.gov/literature/disease/0021435	0021435		324299	C5679884		endothelial PAS domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple paragangliomas associated with polycythemia"	None
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation//hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation//hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation//hypertrophic cardiomyopathy with kidney anomalies due to mtdna mutation//hypertrophic cardiomyopathy with renal anomalies due to mitochondrial dna mutation	MT-TL1	MT-TL1	https://raresource.nih.gov/literature/disease/0021442	0021442		324525	C4749942		mitochondrially encoded tRNA-Leu (UUA/G) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation"	None
Hyperinsulinism due to HNF1A deficiency	hyperinsulinemic hypoglycemia due to hnf1a deficiency//hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency	HNF1A	HNF1A	https://raresource.nih.gov/literature/disease/0021444	0021444		324575	C4303475		HNF1 homeobox A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to HNF1A deficiency"	None
Benign Samaritan congenital myopathy		RYR1	RYR1	https://raresource.nih.gov/literature/disease/0021445	0021445		324581	C4749502		ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign Samaritan congenital myopathy"	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	autosomal dominant intermediate cmt disease with neuropathic pain	MPZ	MPZ	https://raresource.nih.gov/literature/disease/0021446	0021446		324585	C4755257		myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"	None
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	autosomal dominant charcot-marie-tooth disease type 2 due to kinesin family member 5a mutation//cmt2 due to kif5a mutation	KIF5A	KIF5A	https://raresource.nih.gov/literature/disease/0021447	0021447		324611	C4707173		kinesin family member 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"	None
Classic congenital lipoid adrenal hyperplasia due to STAR deficency	classic clah	STAR	STAR	https://raresource.nih.gov/literature/disease/0021473	0021473		325524	C5679869		steroidogenic acute regulatory protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic congenital lipoid adrenal hyperplasia due to STAR deficency"	1
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency		STAR	STAR	https://raresource.nih.gov/literature/disease/0021474	0021474		325529	C5680948		steroidogenic acute regulatory protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"	None
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	severe early-onset obesity insulin resistance syndrome due to sh2b adaptor protein 1 deficiency	SH2B1	SH2B1	https://raresource.nih.gov/literature/disease/0021486	0021486		329249	C5190989		SH2B adaptor protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"	None
Hereditary thrombocytosis with transverse limb defect	familial thrombocytosis with transverse limb defect//thrombocythemia with distal limb defect//thrombocythemia with distal limb defects	THPO	THPO	https://raresource.nih.gov/literature/disease/0021487	0021487		329319	C4749944		thrombopoietin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombocytosis with transverse limb defect"	None
Spastic paraplegia-Paget disease of bone syndrome	spastic paraplegia with paget disease of bone syndrome	VCP	VCP	https://raresource.nih.gov/literature/disease/0021491	0021491		329475	C4511969		valosin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia-Paget disease of bone syndrome"	None
Adult-onset distal myopathy due to VCP mutation	adult-onset distal myopathy due to valosin containing protein mutation//adult-onset distal myopathy due to vcp (valosin containing protein) mutation	VCP	VCP	https://raresource.nih.gov/literature/disease/0021492	0021492		329478	C4749506		valosin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset distal myopathy due to VCP mutation"	None
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	autosomal recessive intellectual disability due to trappc9 (trafficking protein particle complex 9) deficiency//autosomal recessive intellectual disability due to trappc9 deficiency//intellectual disability, obesity, brain malformation, facial dysmorphism syndrome	TRAPPC9	TRAPPC9	https://raresource.nih.gov/literature/disease/0021521	0021521		352530	C4706414		trafficking protein particle complex subunit 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"	None
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome//focal epilepsy, intellectual disability, dysarthria, ataxia syndrome//focal epilepsy-intellectual disability-dysarthria-ataxia syndrome	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0021522	0021522		352587	C4707306		TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"	None
Autosomal recessive cerebellar ataxia with late-onset spasticity	autosomal recessive cerebellar ataxia due to gba2 (glucosylceramidase beta 2) deficiency//autosomal recessive cerebellar ataxia due to gba2 deficiency	GBA2	GBA2	https://raresource.nih.gov/literature/disease/0021525	0021525		352641	C4706412		glucosylceramidase beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cerebellar ataxia with late-onset spasticity"	None
Attenuated Chédiak-Higashi syndrome	attenuated chediak-higashi syndrome//atypical chediak-higashi syndrome//atypical chédiak-higashi syndrome	LYST	LYST	https://raresource.nih.gov/literature/disease/0021527	0021527		352723	C4304022		lysosomal trafficking regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Attenuated Chédiak-Higashi syndrome"	None
Minimal pigment oculocutaneous albinism type 1	mp oca type 1//oca1-mp	TYR	TYR	https://raresource.nih.gov/literature/disease/0021529	0021529		352734	C5679923		tyrosinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Minimal pigment oculocutaneous albinism type 1"	None
LMNA-related cardiocutaneous progeria syndrome	lamin a/c related cardiocutaneous progeria syndrome//lcps	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0021555	0021555		363618	C4750858		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LMNA-related cardiocutaneous progeria syndrome"	10
Koolen-de Vries syndrome due to a point mutation		KANSL1	KANSL1	https://raresource.nih.gov/literature/disease/0021559	0021559		363965	C5680974		KAT8 regulatory NSL complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Koolen-de Vries syndrome due to a point mutation"	None
Autosomal recessive cerebral atrophy		TMPRSS4	TMPRSS4	https://raresource.nih.gov/literature/disease/0021560	0021560		363969	C4755252		transmembrane serine protease 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cerebral atrophy"	1
Severe early-childhood-onset retinal dystrophy	abca4-related stargardt disease 1//cngb3-related stargardt disease 1//early-onset severe retinal dystrophy//eosrd//juvenile onset macular degeneration//macular dystrophy with flecks, type 1//secord//stargardt disease 1//stargardt disease type 1//stargardt macular dystrophy//stgd//stgd1	ABCA4	ABCA4	https://raresource.nih.gov/literature/disease/0021565	0021565		364055	C1855465		ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe early-childhood-onset retinal dystrophy"	519
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome		TRAPPC11	TRAPPC11	https://raresource.nih.gov/literature/disease/0021579	0021579		369847	C5192595		trafficking protein particle complex subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"	None
Obesity due to SIM1 deficiency	obesity due to sim bhlh transcription factor 1 deficiency	SIM1	SIM1	https://raresource.nih.gov/literature/disease/0021580	0021580		369873	C5191050		SIM bHLH transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to SIM1 deficiency"	None
Spondyloepimetaphyseal dysplasia, Isidor type		RPL13	RPL13	https://raresource.nih.gov/literature/disease/0021586	0021586		370015	C5190629		ribosomal protein L13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Isidor type"	None
Ataxia - telangiectasia variant	v-at//v-at - ataxia telangiectasia variant	ATM	ATM	https://raresource.nih.gov/literature/disease/0021597	0021597		370109	C1876175		ATM serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia - telangiectasia variant"	3
XYLT1-congenital disorder of glycosylation	xylosyltransferase 1 congenital disorder of glycosylation//xylt1-cdg//xylt1-cdg - xylosyltransferase 1 congenital disorder of glycosylation//xylt18-cdg	XYLT1	XYLT1	https://raresource.nih.gov/literature/disease/0021599	0021599		370930	C4750849		xylosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=XYLT1-congenital disorder of glycosylation"	None
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression		TNK2	TNK2	https://raresource.nih.gov/literature/disease/0021619	0021619		391316	C4750853		tyrosine kinase non receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"	None
Fatal post-viral neurodegenerative disorder		PRF1	PRF1	https://raresource.nih.gov/literature/disease/0021620	0021620		391343	C4751597		perforin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal post-viral neurodegenerative disorder"	None
Growth retardation-mild developmental delay-chronic hepatitis syndrome		SH2B3	SH2B3	https://raresource.nih.gov/literature/disease/0021621	0021621		391366	C4751595		SH2B adaptor protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Growth retardation-mild developmental delay-chronic hepatitis syndrome"	None
PrP systemic amyloidosis	chronic diarrhea with hereditary sensory and autonomic neuropathy//chronic diarrhea with hsan//chronic diarrhoea with hereditary sensory and autonomic neuropathy//chronic diarrhoea with hsan//prion protein systemic amyloidosis//prp (prion protein) systemic amyloidosis	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0021632	0021632		397606	C4518776		prion protein (Kanno blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PrP systemic amyloidosis"	2
Periodic paralysis with later-onset distal motor neuropathy		MT-ATP6;MT-ATP8	MT-ATP6;MT-ATP8	https://raresource.nih.gov/literature/disease/0021634	0021634		397750	C4751573		mitochondrially encoded ATP synthase membrane subunit 6; mitochondrially encoded ATP synthase membrane subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periodic paralysis with later-onset distal motor neuropathy"	None
Ferro-cerebro-cutaneous syndrome	cerebro-cutaneous syndrome with iron overload//fccs	PIGA	PIGA	https://raresource.nih.gov/literature/disease/0021637	0021637	301072	397922	C4751570		phosphatidylinositol glycan anchor biosynthesis class A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ferro-cerebro-cutaneous syndrome"	10
SIM1-related Prader-Willi-like syndrome	prader-willi-like syndrome due to point mutation//sim bhlh transcription factor 1-related prader-willi-like syndrome//sim1-related pwls	SIM1	SIM1	https://raresource.nih.gov/literature/disease/0021642	0021642		398079	C5680040		SIM bHLH transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SIM1-related Prader-Willi-like syndrome"	None
KLHL9-related early-onset distal myopathy	kelch like family member 9 related early-onset distal myopathy	KLHL9	KLHL9	https://raresource.nih.gov/literature/disease/0021655	0021655		399081	C4706574		kelch like family member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KLHL9-related early-onset distal myopathy"	None
Nebulin-related early-onset distal myopathy	distal nebulin myopathy	NEB	NEB	https://raresource.nih.gov/literature/disease/0021656	0021656		399103	C5190827		nebulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nebulin-related early-onset distal myopathy"	1
Autosomal recessive spastic paraplegia type 59	spg59	USP8	USP8	https://raresource.nih.gov/literature/disease/0021695	0021695		401795	C4750857		ubiquitin specific peptidase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 59"	None
Autosomal recessive spastic paraplegia type 60	spg60	WDR48	WDR48	https://raresource.nih.gov/literature/disease/0021696	0021696		401800	C5190589		WD repeat domain 48	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 60"	None
Autosomal recessive spastic paraplegia type 66	spg66	ARSI	ARSI	https://raresource.nih.gov/literature/disease/0021697	0021697		401815	C5190590		arylsulfatase family member I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 66"	None
Autosomal recessive spastic paraplegia type 67	spg67	PGAP1	PGAP1	https://raresource.nih.gov/literature/disease/0021698	0021698		401820	C4707829		post-GPI attachment to proteins inositol deacylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 67"	None
Autosomal recessive spastic paraplegia type 69	spg69	RAB3GAP2	RAB3GAP2	https://raresource.nih.gov/literature/disease/0021699	0021699		401830	C5190577		RAB3 GTPase activating non-catalytic protein subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 69"	None
Autosomal recessive spastic paraplegia type 70	spg70	MARS1	MARS1	https://raresource.nih.gov/literature/disease/0021700	0021700		401835	C4749431		methionyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 70"	None
Autosomal recessive spastic paraplegia type 71	spg71	ZFR	ZFR	https://raresource.nih.gov/literature/disease/0021701	0021701		401840	C5190578		zinc finger RNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 71"	None
Huntington disease-like syndrome due to C9ORF72 expansions	c9orf72-related huntington disease phenocopy//c9orf72-related huntington disease-like syndrome//huntington disease phenocopy due to c9orf72 expansions//huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions	C9orf72	C9orf72	https://raresource.nih.gov/literature/disease/0021702	0021702		401901	C5190586		C9orf72-SMCR8 complex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huntington disease-like syndrome due to C9ORF72 expansions"	None
AXIN2-related attenuated familial adenomatous polyposis	axin2-related afap//axin2-related attenuated familial polyposis coli//axin2-related attenuated fap	AXIN2	AXIN2	https://raresource.nih.gov/literature/disease/0021703	0021703		401911	C5680012		axin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AXIN2-related attenuated familial adenomatous polyposis"	None
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome		KPNA7	KPNA7	https://raresource.nih.gov/literature/disease/0021707	0021707		401959	C4750913		karyopherin subunit alpha 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"	None
Acute myeloid leukemia with NPM1 somatic mutations	acute myeloid leukemia with npm1 somatic mutation//acute myeloid leukemia with nucleophosmin 1 somatic mutation//aml with npm1 somatic mutations	NPM1	NPM1	https://raresource.nih.gov/literature/disease/0021713	0021713		402026	C4706386		nucleophosmin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia with NPM1 somatic mutations"	None
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome	FBLN1	FBLN1	https://raresource.nih.gov/literature/disease/0021717	0021717		404451	C4751506		fibulin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"	None
Spinal muscular atrophy with respiratory distress type 2	diaphragmatic spinal muscular atrophy type 2//severe infantile axonal neuropathy with respiratory failure type 2//smard2//smard2 - spinal muscular atrophy with respiratory distress type 2//x-linked spinal muscular atrophy with respiratory distress	LAS1L	LAS1L	https://raresource.nih.gov/literature/disease/0021723	0021723		404521	C4749434		LAS1 like ribosome biogenesis factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy with respiratory distress type 2"	None
Angelman syndrome due to a point mutation		UBE3A	UBE3A	https://raresource.nih.gov/literature/disease/0021732	0021732		411511	C5681146		ubiquitin protein ligase E3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angelman syndrome due to a point mutation"	None
PRKAR1B-related neurodegenerative dementia with intermediate filaments	protein kinase camp-dependent type i regulatory subunit beta-related neurodegenerative dementia with intermediate filaments	PRKAR1B	PRKAR1B	https://raresource.nih.gov/literature/disease/0021738	0021738		412066	C4751505		protein kinase cAMP-dependent type I regulatory subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PRKAR1B-related neurodegenerative dementia with intermediate filaments"	None
Glycogen storage disease due to acid maltase deficiency, late-onset	alpha-1,4-glucosidase acid deficiency, late onset//alpha-1,4-glucosidase acid deficiency, late-onset//glycogen storage disease type 2, late onset//glycogen storage disease type 2, late-onset//glycogen storage disease type ii late onset//glycogen storage disease type ii, late onset//glycogen storage disease type ii, late-onset//glycogenosis type 2, late onset//glycogenosis type 2, late-onset//glycogenosis type ii, late onset//glycogenosis type ii, late-onset//gsd due to acid maltase deficiency, late onset//gsd due to acid maltase deficiency, late-onset//gsd type 2, late onset//gsd type 2, late-onset//gsd type ii, late onset//gsd type ii, late-onset//lopd//pompe disease, late onset//pompe disease, late-onset	GAA	GAA	https://raresource.nih.gov/literature/disease/0021746	0021746		420429	C0342753		alpha glucosidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to acid maltase deficiency, late-onset"	429
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency//autosomal recessive severe congenital neutropenia due to cxcr2 (c-x-c motif chemokine receptor 2) deficiency	CXCR2	CXCR2	https://raresource.nih.gov/literature/disease/0021747	0021747	619407	420699	C5190862		C-X-C motif chemokine receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"	None
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome		QARS1	QARS1	https://raresource.nih.gov/literature/disease/0021751	0021751		423306	C4749647		glutaminyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"	None
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	x-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0021752	0021752		423479	C4517296		phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"	None
Microcephaly-complex motor and sensory axonal neuropathy syndrome	microcephalus, complex motor and sensory axonal neuropathy syndrome	VRK1	VRK1	https://raresource.nih.gov/literature/disease/0021762	0021762		423894	C4706585		VRK serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-complex motor and sensory axonal neuropathy syndrome"	None
Congenital myopathy with myasthenic-like onset		RYR1	RYR1	https://raresource.nih.gov/literature/disease/0021783	0021783		424107	C4706390		ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy with myasthenic-like onset"	None
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	autosomal dominant charcot-marie-tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation//cmt2 due to tfg mutation	TFG	TFG	https://raresource.nih.gov/literature/disease/0021815	0021815		435819	C5569028		trafficking from ER to golgi regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"	None
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome		P4HTM	P4HTM	https://raresource.nih.gov/literature/disease/0021817	0021817		436141	C5681179		prolyl 4-hydroxylase, transmembrane	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"	None
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		CDKN1C	CDKN1C	https://raresource.nih.gov/literature/disease/0021818	0021818		436144	C5681180		cyclin dependent kinase inhibitor 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"	None
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy	COA8	COA8	https://raresource.nih.gov/literature/disease/0021819	0021819		436271	C5688227		cytochrome c oxidase assembly factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"	None
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	pxe-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa//pxe-like syndrome with retinitis pigmentosa	GGCX	GGCX	https://raresource.nih.gov/literature/disease/0021820	0021820		436274	C5680045		gamma-glutamyl carboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"	None
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome//autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome	COL11A1	COL11A1	https://raresource.nih.gov/literature/disease/0021838	0021838		440354	C5680056		collagen type XI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"	None
Familial colorectal cancer type X	fcctx//fcctx - familial colorectal cancer type x	ATM;MUTYH;CHEK2;RPS20;NPAT;POLE;BRCA2;SEMA4A;POLD1;BMPR1A	ATM;MUTYH;CHEK2;RPS20;NPAT;POLE;BRCA2;SEMA4A;POLD1;BMPR1A	https://raresource.nih.gov/literature/disease/0021840	0021840		440437	C3896578		ATM serine/threonine kinase; mutY DNA glycosylase; checkpoint kinase 2; ribosomal protein S20; nuclear protein, coactivator of histone transcription; DNA polymerase epsilon, catalytic subunit; BRCA2 DNA repair associated; semaphorin 4A; DNA polymerase delta 1, catalytic subunit; bone morphogenetic protein receptor type 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial colorectal cancer type X"	54
Early-onset posterior subcapsular cataract		CRYBB2;LEMD2;UNC45B;CHMP4B;EPHA2	CRYBB2;LEMD2;UNC45B;CHMP4B;EPHA2	https://raresource.nih.gov/literature/disease/0021846	0021846		441447	C5681190		crystallin beta B2; LEM domain nuclear envelope protein 2; unc-45 myosin chaperone B; charged multivesicular body protein 4B; EPH receptor A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset posterior subcapsular cataract"	None
NIK deficiency	map3k14 non-severe combined immunodeficiency//nf-kappa-b-inducing kinase deficiency//non-severe combined immunodeficiency caused by mutation in map3k14//primary immunodeficiency with multifaceted aberrant lymphoid immunity	MAP3K14	MAP3K14	https://raresource.nih.gov/literature/disease/0021864	0021864	620449	447731	C5680065		mitogen-activated protein kinase kinase kinase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NIK deficiency"	11
Susceptibility to localized juvenile periodontitis		FPR1	FPR1	https://raresource.nih.gov/literature/disease/0021865	0021865		447740	C5681199		formyl peptide receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Susceptibility to localized juvenile periodontitis"	None
Autosomal dominant complex spastic paraplegia type 9B	ad-spg9b//autosomal dominant spastic paraplegia type 9b	ALDH18A1	ALDH18A1	https://raresource.nih.gov/literature/disease/0021866	0021866		447757	C5568979		aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant complex spastic paraplegia type 9B"	None
Congenital insensitivity to pain with severe intellectual disability	congenital absence of pain with severe intellectual disability//congenital analgesia with severe intellectual disability//congenital insensitivity to pain with preserved temperature sensation//congenital insensitivity to pain with severe non-progressive cognitive delay	CLTCL1	CLTCL1	https://raresource.nih.gov/literature/disease/0021890	0021890		453510	C5679994		clathrin heavy chain like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital insensitivity to pain with severe intellectual disability"	None
Hereditary neuroendocrine tumor of small intestine	hereditary neuroendocrine tumor of small bowel//hereditary neuroendocrine tumor of the small intestine//hereditary neuroendocrine tumour of small bowel//hereditary neuroendocrine tumour of the small intestine//hereditary small intestine neuroendocrine neoplasm	IPMK	IPMK	https://raresource.nih.gov/literature/disease/0021899	0021899		456333	C5679993		inositol polyphosphate multikinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary neuroendocrine tumor of small intestine"	None
Clear cell sarcoma of kidney	ccsk//ccsk - clear cell sarcoma of kidney//childhood clear cell sarcoma of the kidney//childhood kidney clear cell sarcoma//childhood renal clear cell sarcoma//clear cell sarcoma - kidney//clear cell sarcoma of the kidney//kidney clear cell sarcoma//paediatric kidney clear cell sarcoma//paediatric renal clear cell sarcoma//pediatric kidney clear cell sarcoma//pediatric renal clear cell sarcoma//renal clear cell sarcoma	BCOR	BCOR	https://raresource.nih.gov/literature/disease/0021905	0021905		457246	C0334488		BCL6 corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Clear cell sarcoma of kidney"	350
Intellectual disability syndrome due to a DYRK1A point mutation	dyrk1a-related intellectual disability syndrome due to a point mutation	DYRK1A	DYRK1A	https://raresource.nih.gov/literature/disease/0021926	0021926		464311	C5679991		dual specificity tyrosine phosphorylation regulated kinase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability syndrome due to a DYRK1A point mutation"	None
Familial gastric type 1 neuroendocrine tumor	familial gastric type 1 neuroendocrine neoplasm//familial type 1 gnet//hereditary type 1 gnet	ATP4A	ATP4A	https://raresource.nih.gov/literature/disease/0021932	0021932		464756	C5681095		ATPase H+/K+ transporting subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial gastric type 1 neuroendocrine tumor"	None
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome		TTN	TTN	https://raresource.nih.gov/literature/disease/0021942	0021942		466921	C5568863		titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"	None
SMARCA4-deficient sarcoma of thorax	smarca4-deficient thoracic sarcoma	SMARCA4	SMARCA4	https://raresource.nih.gov/literature/disease/0021943	0021943		466962	C5554190		SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SMARCA4-deficient sarcoma of thorax"	25
Tubulinopathy-associated dysgyria	brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome//brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome	TUBB2B;TUBB3;TUBA1A	TUBB2B;TUBB3;TUBA1A	https://raresource.nih.gov/literature/disease/0021944	0021944		467166	C5568850		tubulin beta 2B class IIb; tubulin beta 3 class III; tubulin alpha 1a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tubulinopathy-associated dysgyria"	None
Cryptogenic multifocal ulcerous stenosing enteritis	cmuse	PLA2G4A	PLA2G4A	https://raresource.nih.gov/literature/disease/0021945	0021945		468635	C4302263		phospholipase A2 group IVA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cryptogenic multifocal ulcerous stenosing enteritis"	56
Chronic enteropathy associated with SLCO2A1 gene	ceas//chronic enteropathy associated with solute carrier organic anion transporter family member 2a1 gene	SLCO2A1	SLCO2A1	https://raresource.nih.gov/literature/disease/0021946	0021946		468641	C5568838		solute carrier organic anion transporter family member 2A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic enteropathy associated with SLCO2A1 gene"	43
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome		HSPB8	HSPB8	https://raresource.nih.gov/literature/disease/0021949	0021949		476093	C5568137		heat shock protein family B (small) member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"	None
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome		SHH	SHH	https://raresource.nih.gov/literature/disease/0021953	0021953		476119	C5568802		sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"	None
Congenital generalized hypercontractile muscle stiffness syndrome		TPM3	TPM3	https://raresource.nih.gov/literature/disease/0021956	0021956		476406	C5567789		tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital generalized hypercontractile muscle stiffness syndrome"	None
MYO5B-related progressive familial intrahepatic cholestasis	myo5b deficiency	MYO5B	MYO5B	https://raresource.nih.gov/literature/disease/0021972	0021972		480491	C5680100		myosin VB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYO5B-related progressive familial intrahepatic cholestasis"	8
Lethal hydranencephaly-diaphragmatic hernia syndrome		PLAT	PLAT	https://raresource.nih.gov/literature/disease/0021978	0021978		480528	C5567527		plasminogen activator, tissue type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal hydranencephaly-diaphragmatic hernia syndrome"	None
Isolated neonatal sclerosing cholangitis	nsc//sclerosing cholangitis, neonatal	DCDC2	DCDC2	https://raresource.nih.gov/literature/disease/0021983	0021983	617394	480556	C4479344		doublecortin domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated neonatal sclerosing cholangitis"	288
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome		FLNA	FLNA	https://raresource.nih.gov/literature/disease/0021990	0021990		482606	C5567520		filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"	None
EMILIN-1-related connective tissue disease	elastin microfibril interfacer 1 related connective tissue disease	EMILIN1	EMILIN1	https://raresource.nih.gov/literature/disease/0021994	0021994		485418	C5681244		elastin microfibril interfacer 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EMILIN-1-related connective tissue disease"	None
Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation	autosomal dominant charcot-marie-tooth disease type 2 due to diacylglycerol o-acyltransferase 2 mutation//cmt2 due to dgat2 mutation	DGAT2	DGAT2	https://raresource.nih.gov/literature/disease/0021999	0021999		487814	C5567515		diacylglycerol O-acyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation"	None
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	MAB21L1	MAB21L1	https://raresource.nih.gov/literature/disease/0022010	0022010	618479	495875	C5567455		mab-21 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"	None
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	kyphoscoliosis-lateral tongue atrophy-hsp syndrome	KY	KY	https://raresource.nih.gov/literature/disease/0022012	0022012		496689	C5567452		kyphoscoliosis peptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"	None
Menstrual cycle-dependent periodic fever	luteal phase dependent febrile episode//luteal phase dependent periodic fever//luteal-phase-dependent febrile episode//luteal-phase-dependent periodic fever//menstrual cycle dependent febrile episode//menstrual cycle-dependent febrile episode//periodic fever, menstrual cycle dependent//periodic fever, menstrual cycle-dependent	HTR1A	HTR1A	https://raresource.nih.gov/literature/disease/0022017	0022017	614674	498251	C3553418		5-hydroxytryptamine receptor 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Menstrual cycle-dependent periodic fever"	None
Hyaline fibromatosis syndrome	hfs//hyalinosis, inherited systemic//hyalinosis, systemic	ANTXR2	ANTXR2	https://raresource.nih.gov/literature/disease/0022029	0022029	228600	498474	C5574677		ANTXR cell adhesion molecule 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyaline fibromatosis syndrome"	1519
LRP5-related primary osteoporosis	low density lipoprotein receptor-related protein 5 related primary osteoporosis	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0022031	0022031		498481	C5567241		LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LRP5-related primary osteoporosis"	None
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	mybpc1-related autosomal recessive non-lethal amc syndrome//myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	MYBPC1	MYBPC1	https://raresource.nih.gov/literature/disease/0022035	0022035		498693	C5680092		myosin binding protein C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"	None
SIN3A-related intellectual disability syndrome	witkos//witteveen-kolk syndrome	SIN3A	SIN3A	https://raresource.nih.gov/literature/disease/0022043	0022043		500163	CN258628		SIN3 transcription regulator family member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SIN3A-related intellectual disability syndrome"	19
3-methylglutaconic aciduria type 8	3-methylglutaconic aciduria type viii, mgca8//3-methylglutaconic aciduria, type viii//3-methylglutaconic aciduria, type viii; mgca8//mga8//mgca8	HTRA2	HTRA2	https://raresource.nih.gov/literature/disease/0022050	0022050	617248	505208	C4310650		HtrA serine peptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria type 8"	2
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome//cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome//hyaluronidase 2 deficiency	HYAL2	HYAL2	https://raresource.nih.gov/literature/disease/0022068	0022068	621063	508476	C5568767		hyaluronidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"	5
Orofaciodigital syndrome 18	ofd18//ofd18 - oral-facial-digital syndrome type 18//ofds 18//ofds xviii//oral-facial-digital syndrome type 18//oral-facial-digital syndrome with short stature and brachymesophalangia//oral-facial-digital syndrome with short stature and brachymesophalangy//oral-facial-digital syndrome, type xviii//orofaciodigital syndrome type 18//orofaciodigital syndrome xviii	IFT57	IFT57	https://raresource.nih.gov/literature/disease/0022069	0022069	617927	508501	C5567903		intraflagellar transport 57	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome 18"	None
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	extl3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome//extl3-related neuro-immuno-skeletal dysplasia syndrome//neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency//neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency	EXTL3	EXTL3	https://raresource.nih.gov/literature/disease/0022070	0022070		508533	C5567899		exostosin like glycosyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"	None
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	mysm1 (myb like, swirm and mpn domains 1) deficiency//mysm1 deficiency	MYSM1	MYSM1	https://raresource.nih.gov/literature/disease/0022071	0022071		508542	C5567897		Myb like, SWIRM and MPN domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"	15
Chronic lymphoproliferative disorder of NK-cells	chronic lymphoproliferative disorder of natural killer cells//chronic nk lymphocytosis//chronic nk-cell lymphocytosis//chronic nk-large granular lymphocyte lymphoproliferative disorder//chronic nk-lgl lymphoproliferative disorder//clpd-nk//cnkl//indolent large granular nk-cell lymphoproliferative disorder//indolent nk-cell lymphoproliferative disorder//natural killer-cell large granular lymphocyte leukaemia//natural killer-cell large granular lymphocyte leukemia//nk-cell large granular lymphocyte lymphocytosis//nk-cell lineage granular lymphocyte proliferative disorder//nk-lgl leukaemia//nk-lgl leukemia//nk-lgll//nk-type lymphoproliferative disorder of granular lymphocytes	STAT3	STAT3	https://raresource.nih.gov/literature/disease/0022072	0022072		512017	C1512709		signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic lymphoproliferative disorder of NK-cells"	104
Autosomal recessive epidermolytic ichthyosis	arei	KRT10	KRT10	https://raresource.nih.gov/literature/disease/0022074	0022074		512103	C5437635		keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive epidermolytic ichthyosis"	2
Congenital cerebellar ataxia due to RNU12 mutation	congenital cerebellar ataxia due to rna, u12 small nuclear mutation	RNU12	RNU12	https://raresource.nih.gov/literature/disease/0022075	0022075		512260	C5567894		RNA, U12 small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cerebellar ataxia due to RNU12 mutation"	None
Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect	autosomal recessive axonal cmt due to copper metabolism defect	SCO2	SCO2	https://raresource.nih.gov/literature/disease/0022143	0022143		521411	C5569051		synthesis of cytochrome C oxidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect"	None
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome		CYP51A1	CYP51A1	https://raresource.nih.gov/literature/disease/0022144	0022144		521432	C5681444		cytochrome P450 family 51 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"	None
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome		ADAMTSL1	ADAMTSL1	https://raresource.nih.gov/literature/disease/0022145	0022145		521445	C5681443		ADAMTS like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"	None
LAMA5-related multisystemic syndrome	laminin subunit alpha 5-related multisystemic syndrome	LAMA5	LAMA5	https://raresource.nih.gov/literature/disease/0022146	0022146		521450	C5681442		laminin subunit alpha 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LAMA5-related multisystemic syndrome"	None
Diaphragmatic hernia-short bowel-asplenia syndrome		HLX	HLX	https://raresource.nih.gov/literature/disease/0022193	0022193		527468	C5681454		H2.0 like homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diaphragmatic hernia-short bowel-asplenia syndrome"	None
Hereditary angioedema with C1Inh deficiency	angioedema, hereditary, 1 and 2//angioedema, hereditary, type 1/2//hae (hereditary angioedema) with c1inh (c1 esterase inhibitor) deficiency//hae with c1 inhibitor deficiency//hae with c1inh deficiency//hereditary angioedema with c1 esterase inhibitor deficiency//hereditary angioedema with c1inh (c1 esterase inhibitor) deficiency//hereditary angioneurotic edema with c1 inhibitor deficiency//hereditary angioneurotic edema with c1inh deficiency	SERPING1	SERPING1	https://raresource.nih.gov/literature/disease/0022194	0022194		528623	C4552294		serpin family G member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary angioedema with C1Inh deficiency"	1
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome	RIPK1	RIPK1	https://raresource.nih.gov/literature/disease/0022204	0022204	618108	529977	C5568533		receptor interacting serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"	None
Progressive dementia with neuroserpin inclusion bodies	late-onset familial encephalopathy with neuroserpin inclusion bodies	SERPINI1	SERPINI1	https://raresource.nih.gov/literature/disease/0022208	0022208		530303	C5680143		serpin family I member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive dementia with neuroserpin inclusion bodies"	None
Lamb-Shaffer syndrome	lamb-shaffer syndrome; lamshf//lamshf//sox5 haploinsufficiency syndrome	SOX5	SOX5	https://raresource.nih.gov/literature/disease/0022211	0022211	616803	530983	C4225202		SRY-box transcription factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lamb-Shaffer syndrome"	21
Ehlers-Danlos syndrome, kyphoscoliotic type 1	eds 6//eds via//eds, kyphoscoliotic type//eds, oculoscoliotic type//eds6//edskscl1//ehlers-danlos syndrome kyphoscoliotic type//ehlers-danlos syndrome type 6a//ehlers-danlos syndrome, hydroxylysine-deficient//ehlers-danlos syndrome, kyphoscoliotic type//ehlers-danlos syndrome, lysyl hydroxylase deficient//ehlers-danlos syndrome, ocular-scoliotic type//ehlers-danlos syndrome, oculoscoliotic type//ehlers-danlos syndrome, type 6//ehlers-danlos syndrome, type via//hydroxylysine-deficient collagen disease//keds-plod1//kyphoscoliotic eds due to lysyl hydroxylase 1 deficiency//kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency//lysyl hydroxylase-deficient eds//nevo syndrome//ocular scoliotic eds (ehlers-danlos syndrome)//ocular-scoliotic eds//plod1-related kyphoscoliotic ehlers-danlos syndrome//protocollagen lysyl hydroxylase deficiency	PLOD1	PLOD1	https://raresource.nih.gov/literature/disease/0022216	0022216	225400	1900	C0268342	C536198	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, kyphoscoliotic type 1"	28
PLG-related hereditary angioedema with normal C1inh	plg-related hae with normal c1 inhibitor	PLG	PLG	https://raresource.nih.gov/literature/disease/0022217	0022217		537072	C5680155		plasminogen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PLG-related hereditary angioedema with normal C1inh"	None
Classic pyoderma gangrenosum	ulcerative pyoderma gangrenosum	PTPN6	PTPN6	https://raresource.nih.gov/literature/disease/0022220	0022220		538863	C5680157		protein tyrosine phosphatase non-receptor type 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic pyoderma gangrenosum"	32
Pustular pyoderma gangrenosum		PTPN6	PTPN6	https://raresource.nih.gov/literature/disease/0022221	0022221		538866	C5681317		protein tyrosine phosphatase non-receptor type 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pustular pyoderma gangrenosum"	9
Bullous pyoderma gangrenosum	bullous pyoderma//phemphigoid pyoderma gangrenosum	PTPN6	PTPN6	https://raresource.nih.gov/literature/disease/0022222	0022222		538869	C0406687		protein tyrosine phosphatase non-receptor type 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bullous pyoderma gangrenosum"	52
Vegetative pyoderma gangrenosum	granulomatous pyoderma gangrenosum	PTPN6	PTPN6	https://raresource.nih.gov/literature/disease/0022223	0022223		538872	C5680158		protein tyrosine phosphatase non-receptor type 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vegetative pyoderma gangrenosum"	11
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome		FDXR	FDXR	https://raresource.nih.gov/literature/disease/0022231	0022231		543470	C5681321		ferredoxin reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"	None
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome		HNF4A	HNF4A	https://raresource.nih.gov/literature/disease/0022238	0022238		544628	C5681324		hepatocyte nuclear factor 4 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"	None
Early-onset familial hypoaldosteronism	early-onset familial hyperreninemic hypoaldosteronism//severe aldosterone synthase deficiency	CYP11B2	CYP11B2	https://raresource.nih.gov/literature/disease/0022243	0022243		556030	C5680171		cytochrome P450 family 11 subfamily B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset familial hypoaldosteronism"	None
Early-onset calcifying leukoencephalopathy-skeletal dysplasia		CSF1R	CSF1R	https://raresource.nih.gov/literature/disease/0022246	0022246	618476	556985	C5681333		colony stimulating factor 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset calcifying leukoencephalopathy-skeletal dysplasia"	None
Spastic ataxia-dysarthria due to glutaminase deficiency		GLS	GLS	https://raresource.nih.gov/literature/disease/0022247	0022247	618412	557056	C5681336		glutaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia-dysarthria due to glutaminase deficiency"	None
Syndromic congenital sodium diarrhea	syndromic congenital tufting enteropathy	SPINT2	SPINT2	https://raresource.nih.gov/literature/disease/0022262	0022262		563708	C5680120		serine peptidase inhibitor, Kunitz type 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic congenital sodium diarrhea"	7
Triglyceride deposit cardiomyovasculopathy	neutral lipid storage disease with severe cardiovascular involvement//primary triglyceride deposit cardiomyovasculopathy//tgcv	PNPLA2	PNPLA2	https://raresource.nih.gov/literature/disease/0022267	0022267		565612	C5680124		patatin like domain 2, triacylglycerol lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Triglyceride deposit cardiomyovasculopathy"	46
Muscular dystrophy, limb-girdle, autosomal recessive 23	laminin subunit alpha 2-related late-onset muscular dystrophy//laminin subunit alpha 2-related lgmd r23//laminin subunit alpha 2-related limb-girdle muscular dystrophy r23//lgmd type r23	LAMA2	LAMA2	https://raresource.nih.gov/literature/disease/0022270	0022270	618138	565837	C4748327		laminin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, limb-girdle, autosomal recessive 23"	None
Muscular dystrophy, limb-girdle, autosomal dominant 4	calpain-3-related lgmd d4//calpain-3-related limb girdle muscular dystrophy d4//calpain-3-related limb-girdle muscular dystrophy d4//lgmd type d4//lgmd1i//lgmdd4//limb girdle muscular dystrophy type d4//limb-girdle muscular dystrophy type d4//muscular dystrophy, limb-girdle, type 1i	CAPN3	CAPN3	https://raresource.nih.gov/literature/disease/0022272	0022272	618129	565909	C4748295		calpain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, limb-girdle, autosomal dominant 4"	1
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	cain//cain (cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome//ccaat enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome	CEBPE	CEBPE	https://raresource.nih.gov/literature/disease/0022273	0022273		566067	C5568564		CCAAT enhancer binding protein epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"	2
Congenital autosomal recessive small-platelet thrombocytopenia	carst//carst - congenital autosomal recessive small-platelet thrombocytopenia	FYB1	FYB1	https://raresource.nih.gov/literature/disease/0022274	0022274		566192	C5680129		FYN binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital autosomal recessive small-platelet thrombocytopenia"	2
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	resistance to thyroid hormone alpha//resistance to thyroid hormone due to a mutation in tra//resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha//resistance to thyroid hormone due to mutation in tra//rtha	THRA	THRA	https://raresource.nih.gov/literature/disease/0022275	0022275		566231	C5680127		thyroid hormone receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"	124
Acute mast cell leukemia	acute mcl	KIT	KIT	https://raresource.nih.gov/literature/disease/0022276	0022276		566393	C5680128		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute mast cell leukemia"	17
Chronic mast cell leukemia	chronic mcl	KIT	KIT	https://raresource.nih.gov/literature/disease/0022277	0022277		566396	C5680130		KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic mast cell leukemia"	3
Idiopathic multidrug-resistant nephrotic syndrome		DAAM2	DAAM2	https://raresource.nih.gov/literature/disease/0022287	0022287		567550	C5681293		dishevelled associated activator of morphogenesis 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic multidrug-resistant nephrotic syndrome"	None
GJC2-related late-onset primary lymphedema	gap junction protein gamma 2-related late-onset primary lymphedema	GJC2	GJC2	https://raresource.nih.gov/literature/disease/0022299	0022299		568051	C5681305		gap junction protein gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GJC2-related late-onset primary lymphedema"	None
Lymphatic malformation 6	generalised lymphatic dysplasia of fotiou//generalized lymphatic dysplasia of fotiou//lmph3//lmphm6//lymphedema, hereditary, iii//lymphedema, hereditary, type iii//piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis//piezo1-related generalised lymphatic dysplasia with systemic involvement//piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis//piezo1-related generalized lymphatic dysplasia with systemic involvement//piezo1-related lrhf/gld//piezo1-related lymphatic-related hydrops fetalis	PIEZO1	PIEZO1	https://raresource.nih.gov/literature/disease/0022301	0022301	616843	568062	C4225184		piezo type mechanosensitive ion channel component 1 (Er blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 6"	5
EPHB4-related lymphatic-related hydrops fetalis	ephb4-related generalised lymphatic dysplasia with atrial septal defect//ephb4-related generalised lymphatic dysplasia with non-immune hydrops fetalis//ephb4-related generalized lymphatic dysplasia with atrial septal defect//ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis//ephb4-related lrhf/gld//ephrin receptor b4-related lymphatic-related hydrops fetalis	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0022302	0022302		568065	C5680140		EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EPHB4-related lymphatic-related hydrops fetalis"	None
Angiomatoid fibrous histiocytoma	afh//angiomatoid malignant fibrous histiocytoma//histiocytoma, angiomatoid fibrous//histiocytoma, angiomatoid fibrous, somatic	CREB1	CREB1	https://raresource.nih.gov/literature/disease/0022303	0022303	612160	569164	C1266127	C563181	cAMP responsive element binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angiomatoid fibrous histiocytoma"	318
Multiple mitochondrial dysfunctions syndrome 5	isca1 (iron-sulfur cluster assembly 1) deficiency//isca1 deficiency//mmds5//mmds5 - multiple mitochondrial dysfunctions syndrome type 5//multiple mitochondrial dysfunctions syndrome type 5	ISCA1	ISCA1	https://raresource.nih.gov/literature/disease/0022305	0022305	617613	569274	C4539919		iron-sulfur cluster assembly 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 5"	3
CELSR1-related late-onset primary lymphedema	cadherin egf lag seven-pass g-type receptor 1-related late-onset primary lymphedema	CELSR1	CELSR1	https://raresource.nih.gov/literature/disease/0022306	0022306		569816	C5681848		cadherin EGF LAG seven-pass G-type receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CELSR1-related late-onset primary lymphedema"	None
Congenital primary lymphedema of Gordon	vegfc-related congenital primary lymphedema	VEGFC	VEGFC	https://raresource.nih.gov/literature/disease/0022307	0022307		569821	C5680138		vascular endothelial growth factor C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital primary lymphedema of Gordon"	None
Bartter disease type 5	barts5//bartter syndrome caused by mutation in maged2//bartter syndrome type 5//bartter syndrome type v//bartter syndrome, type 5, antenatal, transient//bartter syndrome, type 5, antenatal, transient, x-linked recessive//maged2 bartter syndrome//transient antenatal bartter syndrome	MAGED2	MAGED2	https://raresource.nih.gov/literature/disease/0022308	0022308	300971	570371	C4310820		MAGE family member D2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter disease type 5"	16
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia//oas1 deficiency//oas1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia//oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	OAS1	OAS1	https://raresource.nih.gov/literature/disease/0022313	0022313	618042	572428	C5680364		2'-5'-oligoadenylate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"	None
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	autosomal recessive mendelian susceptibility to mycobacterial disease due to partial jak1 deficiency//autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency//autosomal recessive msmd due to partial jak1 deficiency	JAK1	JAK1	https://raresource.nih.gov/literature/disease/0022319	0022319		574957	C5680361		Janus kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency"	None
Cathepsin a-related arteriopathy-strokes-leukoencephalopathy	carasal//carasal - cathepsin a-related arteriopathy, strokes, leukoencephalopathy	CTSA	CTSA	https://raresource.nih.gov/literature/disease/0022320	0022320		575553	C5680354		cathepsin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cathepsin a-related arteriopathy-strokes-leukoencephalopathy"	6
SATB2 associated disorder	sas//satb2-associated syndrome	SATB2	SATB2	https://raresource.nih.gov/literature/disease/0022326	0022326		576278	CN294806		SATB homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SATB2 associated disorder"	1533
Neu-Laxova syndrome 2	neu-laxova syndrome caused by mutation in psat1//neu-laxova syndrome due to phosphoserine aminotransferase deficiency//neu-laxova syndrome type 2//phosphoserine aminotransferase deficiency, prenatal form//psat1 neu-laxova syndrome	PSAT1	PSAT1	https://raresource.nih.gov/literature/disease/0022335	0022335	616038	583602	C4015019		phosphoserine aminotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neu-Laxova syndrome 2"	None
Neu-Laxova syndrome 1	3-phosphoglycerate dehydrogenase deficiency, neonatal form//3-phosphoglycerate dehydrogenase deficiency, prenatal form//neu-laxova syndrome caused by mutation in phgdh//neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency//neu-laxova syndrome type 1//nls1//phgdh neu-laxova syndrome	PHGDH	PHGDH	https://raresource.nih.gov/literature/disease/0022336	0022336	256520	583607	C4551478		phosphoglycerate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neu-Laxova syndrome 1"	None
Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency	3-phosphoserine phosphatase deficiency, prenatal form	PSPH	PSPH	https://raresource.nih.gov/literature/disease/0022337	0022337		583612	C5680338		phosphoserine phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency"	None
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	b-all with t(9;22)(q34.1;q11.2)//bcr-abl1-like b-all//philadelphia chromosome-like b-all	FLT3	FLT3	https://raresource.nih.gov/literature/disease/0022342	0022342		585909	C5680319		fms related receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"	2
Liberfarb syndrome	libf//short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome//short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome//spondyloepimetaphyseal dysplasia, liberfarb type	PISD	PISD	https://raresource.nih.gov/literature/disease/0022350	0022350	618889	589442	C5394404		phosphatidylserine decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liberfarb syndrome"	4
Spinocerebellar ataxia 47	nedmsf//paddas syndrome//pum1-associated developmental disability, ataxia, seizure syndrome//pum1-related cerebellar ataxia//pumilio rna binding family member 1-associated developmental disability, ataxia, seizure syndrome//sca47 - spinocerebellar ataxia type 47	PUM1	PUM1	https://raresource.nih.gov/literature/disease/0022351	0022351		642747	C4693672		pumilio RNA binding family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 47"	2
Spinocerebellar ataxia 46	sca46//sca46 - spinocerebellar ataxia type 46//spinocerebellar ataxia type 46//spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy	PLD3	PLD3	https://raresource.nih.gov/literature/disease/0022352	0022352	617770	589522	C4540404		phospholipase D family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 46"	1
Spinocerebellar ataxia 45	sca45//sca45 - spinocerebellar ataxia type 45//spinocerebellar ataxia type 45	FAT2	FAT2	https://raresource.nih.gov/literature/disease/0022353	0022353	617769	589527	C4540400		FAT atypical cadherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 45"	1
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	mixed phenotype acute leukemia with t(9;22) (q34;q11.2); bcr-abl1//mixed phenotype acute leukemia with t(9;22)(q34;q11.2); bcr-abl1//mpal with t(9;22)(q34.1;q11.2); bcr-abl1	FLT3	FLT3	https://raresource.nih.gov/literature/disease/0022354	0022354		589534	C2826037		fms related receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"	None
Mixed phenotype acute leukemia with t(v;11q23.3)	mixed phenotype acute leukemia with t(v;11q23); mll rearranged//mixed phenotype acute leukemia with t(v;11q23.3); kmt2a rearranged//mpal with t(v;11q23.3); kmt2a rearranged//mpal with t(v;11q23.3); mll rearranged	FLT3	FLT3	https://raresource.nih.gov/literature/disease/0022357	0022357		589595	C2826048		fms related receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mixed phenotype acute leukemia with t(v;11q23.3)"	None
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	rhoa (ras homolog family member a) related mosaic ectodermal dysplasia//rhoa-related mosaic ectodermal dysplasia	RHOA	RHOA	https://raresource.nih.gov/literature/disease/0022358	0022358	618727	589608	C5680313		ras homolog family member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"	None
Dystonia 28, childhood-onset	dystonia 28//dystonia 28, childhood-onset; dyt28//dystonic disorder caused by mutation in kmt2b//dyt28//dyt28 - dystonia 28//kmt2b dystonic disorder//kmt2b-related dystonia//lysine methyltransferase 2b-related dystonia	KMT2B	KMT2B	https://raresource.nih.gov/literature/disease/0022359	0022359	617284	589618	C4310633		lysine methyltransferase 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 28, childhood-onset"	29
Congenital-onset Steinert myotonic dystrophy	congenital-onset myotonic dystrophy type 1//congenital-onset steinert disease	DMPK	DMPK	https://raresource.nih.gov/literature/disease/0022361	0022361		589821	C5680305		DM1 protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital-onset Steinert myotonic dystrophy"	None
Childhood-onset Steinert myotonic dystrophy	childhood-onset myotonic dystrophy type 1//childhood-onset steinert disease	DMPK	DMPK	https://raresource.nih.gov/literature/disease/0022362	0022362		589824	C5680307		DM1 protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset Steinert myotonic dystrophy"	None
Juvenile-onset Steinert myotonic dystrophy	juvenile-onset myotonic dystrophy type 1//juvenile-onset steinert disease	DMPK	DMPK	https://raresource.nih.gov/literature/disease/0022363	0022363		589827	C5680306		DM1 protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile-onset Steinert myotonic dystrophy"	None
Adult-onset Steinert myotonic dystrophy	adult-onset myotonic dystrophy type 1//adult-onset steinert disease	DMPK	DMPK	https://raresource.nih.gov/literature/disease/0022364	0022364		589830	C5680309		DM1 protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset Steinert myotonic dystrophy"	1
Late-onset Steinert myotonic dystrophy	late-onset myotonic dystrophy type 1//late-onset steinert disease	DMPK	DMPK	https://raresource.nih.gov/literature/disease/0022365	0022365		589833	C5680308		DM1 protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-onset Steinert myotonic dystrophy"	None
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	bcahh//branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome//kmt2d-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome//kmt2d-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome//lysine methyltransferase 2d-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome	KMT2D	KMT2D	https://raresource.nih.gov/literature/disease/0022366	0022366	620186	589856	C5680310		lysine methyltransferase 2D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"	None
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	chung jansen syndrome//chung-jansen syndrome//developmental delay, intellectual disability, obesity, and dysmorphic features//developmental delay, intellectual disability, obesity, and dysmorphism//pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome	PHIP	PHIP	https://raresource.nih.gov/literature/disease/0022367	0022367	617991	589905	C4693860		PHIP subunit of CUL4-Ring ligase complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	12
GNAO1-related developmental delay-seizures-movement disorder spectrum	g protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum//gnao1-related spectrum	GNAO1	GNAO1	https://raresource.nih.gov/literature/disease/0022369	0022369		592564	C5680303		G protein subunit alpha o1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GNAO1-related developmental delay-seizures-movement disorder spectrum"	None
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	TRAF7	TRAF7	https://raresource.nih.gov/literature/disease/0022370	0022370	618164	592570	C5681633		TNF receptor associated factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"	None
Menke-Hennekam syndrome		CREBBP	CREBBP	https://raresource.nih.gov/literature/disease/0022371	0022371		592574	C5681632		CREB binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Menke-Hennekam syndrome"	11
Timothy syndrome type 1	lqt8 type 1//timothy syndrome classic type//ts1	CACNA1C	CACNA1C	https://raresource.nih.gov/literature/disease/0022380	0022380		595098	C5574939		calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Timothy syndrome type 1"	16
Timothy syndrome type 2	lqt8 type 2//ts2	CACNA1C	CACNA1C	https://raresource.nih.gov/literature/disease/0022381	0022381		595105	C4304347		calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Timothy syndrome type 2"	9
Timothy syndrome, atypical type	ats//atypical long qt syndrome type 8//atypical lqt8//atypical timothy syndrome//timothy syndrome type 2 (disorder)	CACNA1C	CACNA1C	https://raresource.nih.gov/literature/disease/0022382	0022382		595109	C5575746		calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Timothy syndrome, atypical type"	553
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	abs2//antley-bixler syndrome without genital anomaly or disorder of steroidogenesis//antley-bixler syndrome, autosomal dominant//multisynostotic osteodysgenesis with long bone fractures//osteodysgenesis, multisynostotic with fractures//trapezoidocephaly synostosis syndrome	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0022389	0022389	207410	596008	C2936791		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"	None
Combined immunodeficiency due to RELA haploinsufficiency	cid due to rela haploinsufficiency	RELA	RELA	https://raresource.nih.gov/literature/disease/0022392	0022392	618287	596759	C5680288		RELA proto-oncogene, NF-kB subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to RELA haploinsufficiency"	None
TRIM22-related inflammatory bowel disease	trim22 (tripartite motif-containing protein 22) related inflammatory bowel disease//trim22-related ibd//tripartite motif-containing protein 22-related inflammatory bowel disease	TRIM22	TRIM22	https://raresource.nih.gov/literature/disease/0022395	0022395		597201	C5680271		tripartite motif containing 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TRIM22-related inflammatory bowel disease"	None
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome	IRF2BPL	IRF2BPL	https://raresource.nih.gov/literature/disease/0022396	0022396	618088	597623	C4748127		interferon regulatory factor 2 binding protein like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	None
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	set domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome//setd2 (set domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome	SETD2	SETD2	https://raresource.nih.gov/literature/disease/0022397	0022397	620157	597743	C5681587		SET domain containing 2, histone lysine methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"	None
ALPI-related inflammatory bowel disease	alkaline phosphatase intestinal gene related inflammatory bowel disease//alpi (alkaline phosphatase intestinal) gene related inflammatory bowel disease	ALPI	ALPI	https://raresource.nih.gov/literature/disease/0022400	0022400		597887	C5681586		alkaline phosphatase, intestinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALPI-related inflammatory bowel disease"	None
Euthyroid dysprealbuminemic hyperthyroxinemia	euthyroid dystransthyretinemic hyperthyroxinemia	TTR	TTR	https://raresource.nih.gov/literature/disease/0022401	0022401	145680	597939	C5680265		transthyretin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Euthyroid dysprealbuminemic hyperthyroxinemia"	1
Hereditary angioedema with normal C1inh not related to F12 or PLG variant		ANGPT1;KNG1;HS3ST6;MYOF	ANGPT1;KNG1;HS3ST6;MYOF	https://raresource.nih.gov/literature/disease/0022406	0022406		599418	C5681601		angiopoietin 1; kininogen 1; heparan sulfate-glucosamine 3-sulfotransferase 6; myoferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary angioedema with normal C1inh not related to F12 or PLG variant"	None
Factor V amsterdam bleeding disorder		F5	F5	https://raresource.nih.gov/literature/disease/0022414	0022414		599579	C5681605		coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor V amsterdam bleeding disorder"	None
Factor V atlanta bleeding disorder		F5	F5	https://raresource.nih.gov/literature/disease/0022415	0022415		600194	C5681543		coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Factor V atlanta bleeding disorder"	None
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance//nrxn1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance	NRXN1	NRXN1	https://raresource.nih.gov/literature/disease/0022416	0022416		600663	C5681528		neurexin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"	None
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	cyclin k-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome	CCNK	CCNK	https://raresource.nih.gov/literature/disease/0022417	0022417	618147	600668	C5681527		cyclin K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"	None
KLHL7-related Bohring-Opitz-like syndrome	kelch like family member 7-related bohring opitz-like syndrome//klhl7 (kelch like family member 7) related bohring opitz-like syndrome//klhl7-related bos-like syndrome	KLHL7	KLHL7	https://raresource.nih.gov/literature/disease/0022436	0022436		603689	C5680210		kelch like family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KLHL7-related Bohring-Opitz-like syndrome"	None
KLHL7-related cold-induced sweating-like syndrome	kelch like family member 7-related crisponi/cold-induced sweating-like syndrome//klhl7 (kelch like family member 7) related crisponi/cold-induced sweating-like syndrome//klhl7-related crisponi-like syndrome//klhl7-related crisponi/cold-induced sweating-like syndrome	KLHL7	KLHL7	https://raresource.nih.gov/literature/disease/0022437	0022437		603694	C5680211		kelch like family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KLHL7-related cold-induced sweating-like syndrome"	None
F12-associated cold autoinflammatory syndrome	coagulation factor xii-associated cold autoinflammatory syndrome//facas - f12-associated cold autoinflammatory syndrome	F12	F12	https://raresource.nih.gov/literature/disease/0022454	0022454		617919	C5681829		coagulation factor XII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=F12-associated cold autoinflammatory syndrome"	None
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome	dias-logan syndrome	BCL11A	BCL11A	https://raresource.nih.gov/literature/disease/0022458	0022458	617101	619233	CN322789		BCL11 transcription factor A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"	8
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18	neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome//neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18	CDC42	CDC42	https://raresource.nih.gov/literature/disease/0022462	0022462		619363	C5925147		cell division cycle 42	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18"	None
SAMD9L-associated autoinflammatory syndrome	samd9l-saad	SAMD9L	SAMD9L	https://raresource.nih.gov/literature/disease/0022463	0022463		619367	C5680414		sterile alpha motif domain containing 9 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SAMD9L-associated autoinflammatory syndrome"	None
Immune deficiency due to impaired neutrophil phagocytosis and migration	immunodeficiency due to impaired neutrophil phagocytosis and migration//mkl1-related neutrophil motility defect	MRTFA	MRTFA	https://raresource.nih.gov/literature/disease/0022464	0022464	618847	619941	C5680413		myocardin related transcription factor A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immune deficiency due to impaired neutrophil phagocytosis and migration"	None
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome	early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to socs1 haploinsufficiency//early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency//socs1-related autoinflammatory syndrome	SOCS1	SOCS1	https://raresource.nih.gov/literature/disease/0022465	0022465		619948	C5680416		suppressor of cytokine signaling 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"	None
Familial hyperinflammatory lymphoproliferative immunodeficiency	hem1 deficiency syndrome//nckap1l-associated hyperinflammatory disorder	NCKAP1L	NCKAP1L	https://raresource.nih.gov/literature/disease/0022466	0022466	618982	619953	C5680415		NCK associated protein 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperinflammatory lymphoproliferative immunodeficiency"	None
CADINS disease	card11-associated atopy with dominant interference of nf-kb signaling syndrome//caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-b signaling syndrome	CARD11	CARD11	https://raresource.nih.gov/literature/disease/0022467	0022467	617638	619972	C5680417		caspase recruitment domain family member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CADINS disease"	4
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome		NFE2L2	NFE2L2	https://raresource.nih.gov/literature/disease/0022468	0022468	617744	619979	C5681830		NFE2 like bZIP transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"	None
Non-syndromic non-specific multisutural craniosynostosis	isolated non-specific multisutural craniosynostosis//non-syndromic non-specific multiple suture synostosis	FUZ	FUZ	https://raresource.nih.gov/literature/disease/0022475	0022475		620158	C5680398		fuzzy planar cell polarity protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-syndromic non-specific multisutural craniosynostosis"	None
Bartter disease type 1	barts1//bartter syndrome antenatal type 1//bartter syndrome caused by mutation in slc12a1//bartter syndrome type 1//bartter syndrome type 1 antenatal//bartter syndrome type i//bartter syndrome, type 1//bartter syndrome, type 1, antenatal//bartter's syndrome type 1//hyperprostaglandin e syndrome 1//hyperprostaglandin e syndrome type 1//hypokalemic alkalosis with hypercalciuria 1 antenatal//hypokalemic alkalosis with hypercalciuria 1, antenatal//hypokalemic alkalosis with hypercalciuria antenatal type 1//slc12a1 bartter syndrome	SLC12A1	SLC12A1	https://raresource.nih.gov/literature/disease/0022482	0022482	601678	620217	C1866495	C537652	solute carrier family 12 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter disease type 1"	18
Bartter disease type 2	barts2//bartter syndrome antenatal type 2//bartter syndrome caused by mutation in kcnj1//bartter syndrome type 2//bartter syndrome type 2 antenatal//bartter syndrome type ii//bartter syndrome, type 2//bartter syndrome, type 2, antenatal//bartter's syndrome type 2//hyperprostaglandin e syndrome 2//hyperprostaglandin e syndrome type 2//hypokalemic alkalosis with hypercalciuria 2 antenatal//hypokalemic alkalosis with hypercalciuria 2, antenatal//hypokalemic alkalosis with hypercalciuria antenatal type 2//kcnj1 bartter syndrome	KCNJ1	KCNJ1	https://raresource.nih.gov/literature/disease/0022483	0022483	241200	620220	C1855849	C537651	potassium inwardly rectifying channel subfamily J member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter disease type 2"	16
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome		CNNM2	CNNM2	https://raresource.nih.gov/literature/disease/0022484	0022484		620363	C5681826		cyclin and CBS domain divalent metal cation transport mediator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"	None
EGF-related primary hypomagnesemia with intellectual disability	epidermal growth factor-related primary hypomagnesemia with intellectual disability	EGF	EGF	https://raresource.nih.gov/literature/disease/0022485	0022485		620368	C5681825		epidermal growth factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EGF-related primary hypomagnesemia with intellectual disability"	None
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation	gitelman-like kidney tubulopathy due to mtdna mutation	MT-TF;MT-TI	MT-TF;MT-TI	https://raresource.nih.gov/literature/disease/0022486	0022486		620371	C5680390		mitochondrially encoded tRNA-Phe (UUU/C); mitochondrially encoded tRNA-Ile (AUU/C)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"	None
X-linked severe syndromic thoracic aortic aneurysm and dissection	x-linked severe syndromic taad	BGN	BGN	https://raresource.nih.gov/literature/disease/0022490	0022490		622925	CN322815		biglycan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked severe syndromic thoracic aortic aneurysm and dissection"	None
SBDS-related severe neonatal spondylometaphyseal dysplasia	sbds-related severe neonatal smd//spondylometaphyseal dysplasia, sedaghatian-like type	SBDS	SBDS	https://raresource.nih.gov/literature/disease/0022491	0022491		622934	C5680412		SBDS ribosome maturation factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SBDS-related severe neonatal spondylometaphyseal dysplasia"	None
MIR140-related spondyloepiphyseal dysplasia	mir140-related sed//spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses	MIR140	MIR140	https://raresource.nih.gov/literature/disease/0022495	0022495		623695	C5680411		microRNA 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MIR140-related spondyloepiphyseal dysplasia"	None
Intellectual disability, autosomal recessive 1	autosomal recessive non-syndromic intellectual disability caused by mutation in prss12//intellectual disability, autosomal recessive type 1//mental retardation, autosomal recessive 1//mental retardation, autosomal recessive type 1//mrt1//prss12 autosomal recessive non-syndromic intellectual disability	PRSS12	PRSS12	https://raresource.nih.gov/literature/disease/0022537	0022537	249500		C1855304	C565406	serine protease 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 1"	None
Intellectual disability, autosomal recessive 2	autosomal recessive non-syndromic intellectual disability caused by mutation in crbn//crbn autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 2//intellectual disability, autosomal recessive type 2//mental retardation, autosomal recessive 2a//mental retardation, autosomal recessive type 2//mrt2	CRBN	CRBN	https://raresource.nih.gov/literature/disease/0022538	0022538	607417		C1843942	C564404	cereblon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 2"	1
Intellectual disability, autosomal recessive 3	autosomal recessive non-syndromic intellectual disability caused by mutation in cc2d1a//cc2d1a autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 3//intellectual disability, autosomal recessive type 3//mental retardation, autosomal recessive 3//mental retardation, autosomal recessive type 3//mrt3	CC2D1A	CC2D1A	https://raresource.nih.gov/literature/disease/0022539	0022539	608443		C1838023	C563929	coiled-coil and C2 domain containing 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 3"	1
Intellectual disability, autosomal recessive 12	intellectual developmental disorder, autosomal recessive 12//intellectual disability, autosomal recessive type 12//mental retardation, autosomal recessive type 12//mrt12	ST3GAL3	ST3GAL3	https://raresource.nih.gov/literature/disease/0022540	0022540	611090		C1970200	C567019	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 12"	None
Intellectual disability, autosomal recessive 5	autosomal recessive non-syndromic intellectual disability caused by mutation in nsun2//intellectual developmental disorder, autosomal recessive 5//intellectual disability, autosomal recessive type 5//mental retardation, autosomal recessive type 5//mrt5//nsun2 autosomal recessive non-syndromic intellectual disability	NSUN2	NSUN2	https://raresource.nih.gov/literature/disease/0022541	0022541	611091		C1970199	C567018	NOP2/Sun RNA methyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 5"	2
Intellectual disability, autosomal recessive 6	autosomal recessive non-syndromic intellectual disability caused by mutation in grik2//grik2 autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 6//intellectual disability, autosomal recessive type 6//mental retardation, autosomal recessive type 6//mrt6	GRIK2	GRIK2	https://raresource.nih.gov/literature/disease/0022542	0022542	611092		C1970198	C567017	glutamate ionotropic receptor kainate type subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 6"	None
Intellectual disability, autosomal recessive 7	autosomal recessive non-syndromic intellectual disability caused by mutation in tusc3//intellectual developmental disorder, autosomal recessive 7//intellectual disability, autosomal recessive type 7//mental retardation, autosomal recessive type 7//mrt7//tusc3 autosomal recessive non-syndromic intellectual disability	TUSC3	TUSC3	https://raresource.nih.gov/literature/disease/0022543	0022543	611093		C1970197	C567016	tumor suppressor candidate 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 7"	None
Intellectual disability, autosomal recessive 13	autosomal recessive non-syndromic intellectual disability caused by mutation in trappc9//intellectual developmental disorder, autosomal recessive 13//intellectual disability, autosomal recessive type 13//mental retardation, autosomal recessive type 13//mrt13//trappc9 autosomal recessive non-syndromic intellectual disability	TRAPPC9	TRAPPC9	https://raresource.nih.gov/literature/disease/0022548	0022548			C2750791	C567714	trafficking protein particle complex subunit 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 13"	1
Intellectual disability, autosomal recessive 14	autosomal recessive non-syndromic intellectual disability caused by mutation in tecr//intellectual developmental disorder, autosomal recessive 14//intellectual disability, autosomal recessive type 14//mental retardation, autosomal recessive type 14//mrt14//tecr autosomal recessive non-syndromic intellectual disability	TECR	TECR	https://raresource.nih.gov/literature/disease/0022549	0022549	614020		C3151462		trans-2,3-enoyl-CoA reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 14"	None
Rafiq syndrome	autosomal recessive non-syndromic intellectual disability caused by mutation in man1b1//cdg2u//intellectual disability, autosomal recessive 15//man1b1 autosomal recessive non-syndromic intellectual disability//mental retardation, autosomal recessive 15//mental retardation, autosomal recessive type 15//rafqs	MAN1B1	MAN1B1	https://raresource.nih.gov/literature/disease/0022550	0022550	614202		C3280127		mannosidase alpha class 1B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rafiq syndrome"	7
Intellectual disability, autosomal recessive 18	autosomal recessive non-syndromic intellectual disability caused by mutation in med23//intellectual developmental disorder, autosomal recessive 18, with or without epilepsy//intellectual disability, autosomal recessive type 18//med23 autosomal recessive non-syndromic intellectual disability//mental retardation, autosomal recessive type 18//mrt18	MED23	MED23	https://raresource.nih.gov/literature/disease/0022552	0022552	614249		C3280265		mediator complex subunit 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 18"	None
Intellectual disability, autosomal recessive 27	autosomal recessive non-syndromic intellectual disability caused by mutation in lins1//intellectual developmental disorder, autosomal recessive 27//intellectual disability, autosomal recessive type 27//lins1 autosomal recessive non-syndromic intellectual disability//mental retardation, autosomal recessive 27//mental retardation, autosomal recessive type 27//mrt27	LINS1	LINS1	https://raresource.nih.gov/literature/disease/0022555	0022555	614340		C3280538		lines homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 27"	1
Intellectual disability, autosomal recessive 34	autosomal recessive non-syndromic intellectual disability caused by mutation in cradd//cradd autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly//intellectual disability, autosomal recessive type 34//mental retardation, autosomal recessive type 34//mrt34	CRADD	CRADD	https://raresource.nih.gov/literature/disease/0022563	0022563	614499		C3281044		CASP2 and RIPK1 domain containing adaptor with death domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 34"	None
Intellectual disability, autosomal recessive 42	autosomal recessive non-syndromic intellectual disability caused by mutation in pgap1//glycosylphosphatidylinositol biosynthesis defect 9//intellectual disability, autosomal recessive type 42//mental retardation, autosomal recessive type 42//neddsba//neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities//pgap1 autosomal recessive non-syndromic intellectual disability	PGAP1	PGAP1	https://raresource.nih.gov/literature/disease/0022564	0022564			C4014343		post-GPI attachment to proteins inositol deacylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 42"	None
Intellectual disability, autosomal recessive 43	autosomal recessive non-syndromic intellectual disability caused by mutation in washc4//intellectual developmental disorder, autosomal recessive 43//intellectual disability, autosomal recessive type 43//mental retardation, autosomal recessive type 43//mrt43//washc4 autosomal recessive non-syndromic intellectual disability	WASHC4	WASHC4	https://raresource.nih.gov/literature/disease/0022565	0022565	615817		C4014386		WASH complex subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 43"	None
Intellectual disability, autosomal recessive 44	autosomal recessive non-syndromic intellectual disability caused by mutation in mettl23//intellectual developmental disorder, autosomal recessive 44//intellectual disability, autosomal recessive type 44//mental retardation, autosomal recessive type 44//mettl23 autosomal recessive non-syndromic intellectual disability//mrt44	METTL23	METTL23	https://raresource.nih.gov/literature/disease/0022566	0022566	615942		C4014745		methyltransferase 23, arginine	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 44"	None
Intellectual disability, autosomal recessive 45	autosomal recessive non-syndromic intellectual disability caused by mutation in fbxo31//fbxo31 autosomal recessive non-syndromic intellectual disability//intellectual disability, autosomal recessive type 45//mental retardation, autosomal recessive type 45//mrt45	FBXO31	FBXO31	https://raresource.nih.gov/literature/disease/0022567	0022567	615979		C4014864		F-box protein 31	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 45"	None
Intellectual disability, autosomal recessive 46	autosomal recessive non-syndromic intellectual disability caused by mutation in ndst1//intellectual developmental disorder, autosomal recessive 46//intellectual disability, autosomal recessive type 46//mental retardation, autosomal recessive type 46//mrt46//ndst1 autosomal recessive non-syndromic intellectual disability	NDST1	NDST1	https://raresource.nih.gov/literature/disease/0022568	0022568	616116		C4015283		N-deacetylase and N-sulfotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 46"	None
Intellectual disability, autosomal recessive 47	autosomal recessive non-syndromic intellectual disability caused by mutation in fmn2//fmn2 autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 47//intellectual disability, autosomal recessive type 47//mental retardation, autosomal recessive type 47//mrt47	FMN2	FMN2	https://raresource.nih.gov/literature/disease/0022569	0022569	616193		C4015444		formin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 47"	None
Intellectual disability, autosomal recessive 50	autosomal recessive non-syndromic intellectual disability caused by mutation in edc3//edc3 autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 50//intellectual disability, autosomal recessive type 50//mental retardation, autosomal recessive type 50//mrt50	EDC3	EDC3	https://raresource.nih.gov/literature/disease/0022570	0022570	616460		C4225319		enhancer of mRNA decapping 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 50"	None
Intellectual disability, autosomal recessive 51	autosomal recessive non-syndromic intellectual disability caused by mutation in hnmt//hnmt autosomal recessive non-syndromic intellectual disability//intellectual developmental disorder, autosomal recessive 51//intellectual disability, autosomal recessive type 51//mental retardation, autosomal recessive 51//mental retardation, autosomal recessive type 51//mrt51	HNMT	HNMT	https://raresource.nih.gov/literature/disease/0022571	0022571	616739		C4225220		histamine N-methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 51"	None
Intellectual disability, autosomal recessive 52	autosomal recessive non-syndromic intellectual disability caused by mutation in lman2l//intellectual developmental disorder, autosomal recessive 52//intellectual disability, autosomal recessive type 52//lman2l autosomal recessive non-syndromic intellectual disability//mental retardation, autosomal recessive 52//mental retardation, autosomal recessive type 52//mrt52	LMAN2L	LMAN2L	https://raresource.nih.gov/literature/disease/0022572	0022572	616887		C4225168		lectin, mannose binding 2 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 52"	None
Intellectual disability, autosomal recessive 54	autosomal recessive non-syndromic intellectual disability caused by mutation in tnik//intellectual developmental disorder 54//intellectual disability, autosomal recessive type 54//mental retardation, autosomal recessive 54//mental retardation, autosomal recessive type 54//mrt54//tnik autosomal recessive non-syndromic intellectual disability	TNIK	TNIK	https://raresource.nih.gov/literature/disease/0022573	0022573	617028		C4310755		TRAF2 and NCK interacting kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 54"	None
Intellectual disability, autosomal recessive 56	autosomal recessive non-syndromic intellectual disability caused by mutation in zc3h14//intellectual developmental disorder, autosomal recessive 56//intellectual disability, autosomal recessive type 56//mental retardation, autosomal recessive 56//mental retardation, autosomal recessive type 56//mrt56//zc3h14 autosomal recessive non-syndromic intellectual disability	ZC3H14	ZC3H14	https://raresource.nih.gov/literature/disease/0022574	0022574	617125		C4310703		zinc finger CCCH-type containing 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 56"	None
Intellectual disability, autosomal recessive 57	autosomal recessive non-syndromic intellectual disability caused by mutation in mboat7//intellectual developmental disorder, autosomal recessive 57//intellectual disability, autosomal recessive type 57//mboat7 autosomal recessive non-syndromic intellectual disability//mental retardation, autosomal recessive 57//mental retardation, autosomal recessive type 57//mrt57	MBOAT7	MBOAT7	https://raresource.nih.gov/literature/disease/0022575	0022575	617188		C4310673		membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 57"	None
Neurodevelopmental disorder with microcephaly, ataxia, and seizures		SARS1	SARS1	https://raresource.nih.gov/literature/disease/0022576	0022576	617709		C4540188		seryl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, ataxia, and seizures"	1
Glycosylphosphatidylinositol biosynthesis defect 16	mental retardation, autosomal recessive 62	PIGC	PIGC	https://raresource.nih.gov/literature/disease/0022577	0022577	617816		C4540521		phosphatidylinositol glycan anchor biosynthesis class C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycosylphosphatidylinositol biosynthesis defect 16"	None
Intellectual disability, autosomal recessive 65	intellectual developmental disorder, autosomal recessive 65//mental retardation, autosomal recessive 65//mrt65	KDM5B	KDM5B	https://raresource.nih.gov/literature/disease/0022578	0022578	618109		C4748219		lysine demethylase 5B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 65"	None
Intellectual disability, autosomal recessive 66	intellectual developmental disorder, autosomal recessive 66//mental retardation, autosomal recessive 66	FERRY3	FERRY3	https://raresource.nih.gov/literature/disease/0022579	0022579	618221		C4748732		FERRY endosomal RAB5 effector complex subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 66"	None
Intellectual developmental disorder, autosomal recessive 70	mental retardation, autosomal recessive 70	RSRC1	RSRC1	https://raresource.nih.gov/literature/disease/0022580	0022580	618402		C5193077		arginine and serine rich coiled-coil 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 70"	None
Intellectual developmental disorder with short stature and behavioral abnormalities		IQSEC1	IQSEC1	https://raresource.nih.gov/literature/disease/0022581	0022581	618687		C5231462		IQ motif and Sec7 domain ArfGEF 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with short stature and behavioral abnormalities"	None
Autosomal recessive nonsyndromic hearing loss 2	deafness, autosomal recessive 2//dfnb 2 nonsyndromic hearing loss and deafness//neurosensory nonsyndromic recessive deafness 2	MYO7A	MYO7A	https://raresource.nih.gov/literature/disease/0022582	0022582	600060		C1838701	C564007	myosin VIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 2"	None
Autosomal recessive nonsyndromic hearing loss 3	dfnb 3 nonsyndromic hearing loss and deafness//neurosensory nonsyndromic recessive deafness 3	MYO15A	MYO15A	https://raresource.nih.gov/literature/disease/0022583	0022583	600316		C1838263	C563961	myosin XVA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 3"	1
Autosomal recessive nonsyndromic hearing loss 4	deafness, autosomal recessive 4//deafness, autosomal recessive 4, with enlarged vestibular aqueduct//deafness, autosomal recessive 4, with enlarged vestibular aqueduct, digenic//dfnb4//enlarged vestibular aqueduct//enlarged vestibular aqueduct, digenic//foxi1-related pendred syndrome//kcnj10-related pendred syndrome//neurosensory nonsyndromic recessive deafness 4//nonsyndromic enlarged vestibular aqueduct (nseva)	KCNJ10;SLC26A4;FOXI1	KCNJ10;SLC26A4;FOXI1	https://raresource.nih.gov/literature/disease/0022584	0022584	600791		C3538946	C566366	potassium inwardly rectifying channel subfamily J member 10; solute carrier family 26 member 4; forkhead box I1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 4"	405
Autosomal recessive nonsyndromic hearing loss 6	dfnb 6 nonsyndromic hearing loss and deafness//neurosensory nonsyndromic recessive deafness 6	TMIE	TMIE	https://raresource.nih.gov/literature/disease/0022586	0022586	600971		C1832992	C563418	transmembrane inner ear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 6"	None
Autosomal recessive nonsyndromic hearing loss 7	deafness, autosomal recessive 11//dfnb 7/11 nonsyndromic hearing loss and deafness	TMC1	TMC1	https://raresource.nih.gov/literature/disease/0022587	0022587	600974		C1832978	C563417	transmembrane channel like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 7"	None
Autosomal recessive nonsyndromic hearing loss 9	auditory neuropathy, autosomal recessive, 1, temperature-sensitive//deafness, autosomal recessive 9//neurosensory nonsyndromic recessive deafness 9//otof-related hearing loss	OTOF	OTOF	https://raresource.nih.gov/literature/disease/0022588	0022588	601071		C1832828		otoferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 9"	3
Autosomal recessive nonsyndromic hearing loss 8	deafness, autosomal recessive 10//neurosensory nonsyndromic recessive deafness 8	TMPRSS3	TMPRSS3	https://raresource.nih.gov/literature/disease/0022589	0022589	601072		C1832827		transmembrane serine protease 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 8"	None
Autosomal recessive nonsyndromic hearing loss 12	deafness, autosomal recessive 12//dfnb12 nonsyndromic hearing loss and deafness	CDH23	CDH23	https://raresource.nih.gov/literature/disease/0022590	0022590	601386		C1832394	C563327	cadherin related 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 12"	None
Autosomal recessive nonsyndromic hearing loss 15	deafness, autosomal recessive 15//deafness, autosomal recessive 72//deafness, autosomal recessive 95	GIPC3	GIPC3	https://raresource.nih.gov/literature/disease/0022591	0022591	601869		C1866094	C566611	GIPC PDZ domain containing family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 15"	None
Autosomal recessive nonsyndromic hearing loss 18A	deafness, autosomal recessive 18//deafness, autosomal recessive 18a//dfnb18 nonsyndromic hearing loss and deafness	USH1C	USH1C	https://raresource.nih.gov/literature/disease/0022592	0022592	602092		C1865870	C566580	USH1 protein network component harmonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 18A"	None
Autosomal recessive nonsyndromic hearing loss 21	dfnb21 nonsyndromic hearing loss and deafness	TECTA	TECTA	https://raresource.nih.gov/literature/disease/0022595	0022595	603629		C1863655	C566353	tectorin alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 21"	None
Autosomal recessive nonsyndromic hearing loss 16	deafness, autosomal recessive 16//dfnb16 nonsyndromic hearing loss and deafness	STRC	STRC	https://raresource.nih.gov/literature/disease/0022597	0022597	603720		C1863561	C566339	stereocilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 16"	1
Autosomal recessive nonsyndromic hearing loss 26	deafness, autosomal recessive 26	GAB1	GAB1	https://raresource.nih.gov/literature/disease/0022599	0022599	605428		C1854275	C565329	GRB2 associated binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 26"	None
Autosomal recessive nonsyndromic hearing loss 22	dfnb22 nonsyndromic hearing loss and deafness	OTOA	OTOA	https://raresource.nih.gov/literature/disease/0022601	0022601	607039		C1846896	C564633	otoancorin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 22"	None
Autosomal recessive nonsyndromic hearing loss 31	dfnb31 nonsyndromic hearing loss and deafness//whirler, mouse, homolog of	WHRN	WHRN	https://raresource.nih.gov/literature/disease/0022602	0022602	607084		C1846839	C564629	whirlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 31"	None
Autosomal recessive nonsyndromic hearing loss 30	dfnb30 nonsyndromic hearing loss and deafness	MYO3A	MYO3A	https://raresource.nih.gov/literature/disease/0022603	0022603	607101		C1846784	C564624	myosin IIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 30"	None
Autosomal recessive nonsyndromic hearing loss 37	dfnb37 nonsyndromic hearing loss and deafness	MYO6	MYO6	https://raresource.nih.gov/literature/disease/0022605	0022605	607821		C1843028	C564331	myosin VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 37"	None
Autosomal recessive nonsyndromic hearing loss 39	dfnb39 nonsyndromic hearing loss and deafness	HGF	HGF	https://raresource.nih.gov/literature/disease/0022608	0022608	608265		C1842342	C564265	hepatocyte growth factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 39"	None
Autosomal recessive nonsyndromic hearing loss 35	dfnb35 nonsyndromic hearing loss and deafness	ESRRB	ESRRB	https://raresource.nih.gov/literature/disease/0022609	0022609	608565		C1837857	C563908	estrogen related receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 35"	None
Autosomal recessive nonsyndromic hearing loss 32	deafness, autosomal recessive 105//deafness, autosomal recessive 32	CDC14A	CDC14A	https://raresource.nih.gov/literature/disease/0022610	0022610	608653		C1837608	C563884	cell division cycle 14A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 32"	None
Autosomal recessive nonsyndromic hearing loss 36	deafness, autosomal recessive 36//deafness, autosomal recessive 36, with vestibular involvement//deafness, neurosensory, without vestibular involvement, autosomal dominant//dfnb36 nonsyndromic hearing loss and deafness	ESPN	ESPN	https://raresource.nih.gov/literature/disease/0022611	0022611	609006		C1837007	C563815	espin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 36"	None
Autosomal recessive nonsyndromic hearing loss 48	deafness, autosomal recessive 48	CIB2	CIB2	https://raresource.nih.gov/literature/disease/0022612	0022612	609439		C1836199	C563720	calcium and integrin binding family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 48"	None
Autosomal recessive nonsyndromic hearing loss 23	dfnb23 nonsyndromic hearing loss and deafness	PCDH15	PCDH15	https://raresource.nih.gov/literature/disease/0022613	0022613	609533		C1836027	C563705	protocadherin related 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 23"	None
Autosomal recessive nonsyndromic hearing loss 42		ILDR1	ILDR1	https://raresource.nih.gov/literature/disease/0022614	0022614	609646		C1864818	C566460	immunoglobulin like domain containing receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 42"	None
Autosomal recessive nonsyndromic hearing loss 53		COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0022616	0022616	609706		C1864746	C566453	collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 53"	None
Autosomal recessive nonsyndromic hearing loss 28	dfnb28 nonsyndromic hearing loss and deafness	TRIOBP	TRIOBP	https://raresource.nih.gov/literature/disease/0022617	0022617	609823		C1853276	C565218	TRIO and F-actin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 28"	None
Autosomal recessive nonsyndromic hearing loss 49	deafness, neurosensory, autosomal recessive 49//dfnb49 nonsyndromic hearing loss and deafness	MARVELD2	MARVELD2	https://raresource.nih.gov/literature/disease/0022619	0022619	610153		C1857811	C565717	MARVEL domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 49"	None
Autosomal recessive nonsyndromic hearing loss 44	deafness, autosomal recessive 44	ADCY1	ADCY1	https://raresource.nih.gov/literature/disease/0022620	0022620	610154		C1857809	C565716	adenylate cyclase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 44"	None
Autosomal recessive nonsyndromic hearing loss 66	deafness, autosomal recessive 66//dfnb66	DCDC2	DCDC2	https://raresource.nih.gov/literature/disease/0022621	0022621	610212		C1857750	C565701	doublecortin domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 66"	None
Autosomal recessive nonsyndromic hearing loss 59	dfnb59 nonsyndromic hearing loss and deafness	PJVK	PJVK	https://raresource.nih.gov/literature/disease/0022622	0022622	610220		C1857744	C565698	pejvakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 59"	None
Autosomal recessive nonsyndromic hearing loss 67	dfnb67 nonsyndromic hearing loss and deafness	LHFPL5	LHFPL5	https://raresource.nih.gov/literature/disease/0022624	0022624	610265		C1853223	C565207	LHFPL tetraspan subfamily member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 67"	None
Autosomal recessive nonsyndromic hearing loss 68	deafness, autosomal recessive 68	S1PR2	S1PR2	https://raresource.nih.gov/literature/disease/0022625	0022625	610419		C1835854	C563669	sphingosine-1-phosphate receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 68"	None
Autosomal recessive nonsyndromic hearing loss 24	dfnb24 nonsyndromic hearing loss and deafness	RDX	RDX	https://raresource.nih.gov/literature/disease/0022626	0022626	611022		C1970239	C567027	radixin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 24"	None
Autosomal recessive nonsyndromic hearing loss 63	dfnb63 nonsyndromic hearing loss and deafness	LRTOMT	LRTOMT	https://raresource.nih.gov/literature/disease/0022627	0022627	611451		C1969621	C566951	leucine rich transmembrane and O-methyltransferase domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 63"	None
Autosomal recessive nonsyndromic hearing loss 1B	deafness, autosomal recessive 1b	GJB6	GJB6	https://raresource.nih.gov/literature/disease/0022629	0022629	612645		C2675235	C567213	gap junction protein beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 1B"	None
Autosomal recessive nonsyndromic hearing loss 77	dfnb77 nonsyndromic hearing loss and deafness	LOXHD1	LOXHD1	https://raresource.nih.gov/literature/disease/0022631	0022631	613079		C2746083	C567543	lipoxygenase homology PLAT domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 77"	None
Autosomal recessive nonsyndromic hearing loss 25		GRXCR1	GRXCR1	https://raresource.nih.gov/literature/disease/0022632	0022632	613285		C1414017		glutaredoxin and cysteine rich domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 25"	None
Autosomal recessive nonsyndromic hearing loss 79	dfnb79 nonsyndromic hearing loss and deafness	TPRN	TPRN	https://raresource.nih.gov/literature/disease/0022633	0022633	613307		C2750082	C567651	taperin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 79"	None
Autosomal recessive nonsyndromic hearing loss 84A	deafness, autosomal recessive 84a//deafness, autosomal recessive 84a, with vestibular dysfunction	PTPRQ	PTPRQ	https://raresource.nih.gov/literature/disease/0022634	0022634	613391		C3150654		protein tyrosine phosphatase receptor type Q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 84A"	None
Autosomal recessive nonsyndromic hearing loss 91		SERPINB6	SERPINB6	https://raresource.nih.gov/literature/disease/0022636	0022636	613453		C3150704		serpin family B member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 91"	None
Autosomal recessive nonsyndromic hearing loss 74		MSRB3	MSRB3	https://raresource.nih.gov/literature/disease/0022638	0022638	613718		C2239351		methionine sulfoxide reductase B3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 74"	None
Autosomal recessive nonsyndromic hearing loss 61	dfnb61 nonsyndromic hearing loss and deafness	SLC26A5	SLC26A5	https://raresource.nih.gov/literature/disease/0022639	0022639	613865		C3151230		solute carrier family 26 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 61"	None
Autosomal recessive nonsyndromic hearing loss 89	deafness, autosomal recessive 89	KARS1	KARS1	https://raresource.nih.gov/literature/disease/0022640	0022640	613916		C3151351		lysyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 89"	None
Autosomal recessive nonsyndromic hearing loss 29	dfnb29 nonsyndromic hearing loss and deafness	CLDN14	CLDN14	https://raresource.nih.gov/literature/disease/0022641	0022641	614035		C3279660		claudin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 29"	None
Autosomal recessive nonsyndromic hearing loss 86	deafness , autosomal recessive 86//deafness, autosomal recessive 86//dfnb86	TBC1D24	TBC1D24	https://raresource.nih.gov/literature/disease/0022643	0022643	614617		C2829265		TBC1 domain family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 86"	None
Autosomal recessive nonsyndromic hearing loss 98	deafness, autosomal recessive 98	TSPEAR	TSPEAR	https://raresource.nih.gov/literature/disease/0022644	0022644	614861		C3553932		thrombospondin type laminin G domain and EAR repeats	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 98"	None
Autosomal recessive nonsyndromic hearing loss 93	deafness, autosomal recessive 93	CABP2	CABP2	https://raresource.nih.gov/literature/disease/0022645	0022645	614899		C3888355		calcium binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 93"	None
Autosomal recessive nonsyndromic hearing loss 70	deafness, autosomal recessive 70	PNPT1	PNPT1	https://raresource.nih.gov/literature/disease/0022646	0022646	614934		C1824925		polyribonucleotide nucleotidyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 70"	None
Autosomal recessive nonsyndromic hearing loss 84B	deafness, autosomal recessive 84b	OTOGL	OTOGL	https://raresource.nih.gov/literature/disease/0022647	0022647	614944		C3554159		otogelin like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 84B"	None
Autosomal recessive nonsyndromic hearing loss 18B	deafness, autosomal recessive 18b	OTOG	OTOG	https://raresource.nih.gov/literature/disease/0022648	0022648	614945		C3554163		otogelin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 18B"	None
Autosomal recessive nonsyndromic hearing loss 88	deafness, autosomal recessive 88	ELMOD3	ELMOD3	https://raresource.nih.gov/literature/disease/0022649	0022649	615429		C2829267		ELMO domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 88"	None
Autosomal recessive nonsyndromic hearing loss 76	deafness, autosomal recessive 76//dfnb76 nonsyndromic hearing loss and deafness	SYNE4	SYNE4	https://raresource.nih.gov/literature/disease/0022650	0022650	615540		C3147083		spectrin repeat containing nuclear envelope family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 76"	None
Autosomal recessive nonsyndromic hearing loss 101	deafness, autosomal recessive 101	GRXCR2	GRXCR2	https://raresource.nih.gov/literature/disease/0022651	0022651	615837		C3892049		glutaredoxin and cysteine rich domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 101"	None
Autosomal recessive nonsyndromic hearing loss 102	deafness, autosomal recessive 102	EPS8	EPS8	https://raresource.nih.gov/literature/disease/0022652	0022652	615974		C3892050		EGFR pathway substrate 8, signaling adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 102"	None
Autosomal recessive nonsyndromic hearing loss 103	deafness, autosomal recessive 103	CLIC5	CLIC5	https://raresource.nih.gov/literature/disease/0022653	0022653	616042		C4015050		chloride intracellular channel 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 103"	None
Autosomal recessive nonsyndromic hearing loss 104	deafness, autosomal recessive 104	RIPOR2	RIPOR2	https://raresource.nih.gov/literature/disease/0022654	0022654	616515		C4225298		RHO family interacting cell polarization regulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 104"	None
Autosomal recessive nonsyndromic hearing loss 97	deafness, autosomal recessive 97	MET	MET	https://raresource.nih.gov/literature/disease/0022655	0022655	616705		C4084709		MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 97"	None
Hearing loss, autosomal recessive 106	deafness, autosomal recessive 106	EPS8L2	EPS8L2	https://raresource.nih.gov/literature/disease/0022656	0022656	617637		C4539954		EPS8 signaling adaptor L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 106"	None
Hearing loss, autosomal recessive 107	deafness, autosomal recessive 107	WBP2	WBP2	https://raresource.nih.gov/literature/disease/0022657	0022657	617639		C4539964		WW domain binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 107"	None
Hearing loss, autosomal recessive 108	deafness, autosomal recessive 108	ROR1	ROR1	https://raresource.nih.gov/literature/disease/0022658	0022658	617654		C4539997		receptor tyrosine kinase like orphan receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 108"	None
Hearing loss, autosomal recessive 111	deafness, autosomal recessive 111	MPZL2	MPZL2	https://raresource.nih.gov/literature/disease/0022659	0022659	618145		C4748374		myelin protein zero like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 111"	None
Hearing loss, autosomal recessive 100	deafness, autosomal recessive 100	PPIP5K2	PPIP5K2	https://raresource.nih.gov/literature/disease/0022660	0022660	618422		C5193087		diphosphoinositol pentakisphosphate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 100"	None
Hearing loss, autosomal recessive 94	deafness, autosomal recessive 94	NARS2	NARS2	https://raresource.nih.gov/literature/disease/0022661	0022661	618434		C5193096		asparaginyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 94"	None
Hearing loss, autosomal recessive 114	deafness, autosomal recessive 114	GRAP	GRAP	https://raresource.nih.gov/literature/disease/0022662	0022662	618456		C5193107		GRB2 related adaptor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 114"	None
Hearing loss, autosomal recessive 99	deafness, autosomal recessive 99	TMEM132E	TMEM132E	https://raresource.nih.gov/literature/disease/0022663	0022663	618481		C4760579		transmembrane protein 132E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 99"	None
Hearing loss, autosomal recessive 116	deafness, autosomal recessive 116	CLDN9	CLDN9	https://raresource.nih.gov/literature/disease/0022664	0022664	619093		C5436789		claudin 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 116"	None
Hearing loss, autosomal recessive 117	deafness, autosomal recessive 117	CLRN2	CLRN2	https://raresource.nih.gov/literature/disease/0022665	0022665	619174		C5436937		clarin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 117"	None
Intellectual disability, X-linked 50	intellectual developmental disorder, x-linked 50//mrx50//xlid50	SYN1	SYN1	https://raresource.nih.gov/literature/disease/0022668	0022668	300115		C1848087	C564713	synapsin I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 50"	None
Intellectual disability, X-linked 21	il1rapl1 non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked 21//intellectual developmental disorder, x-linked 21, x-linked recessive//intellectual disability, x-linked type 21//mental retardation, x-linked 21/34//mental retardation, x-linked 34//mental retardation, x-linked type 21//non-syndromic x-linked intellectual disability caused by mutation in il1rapl1//xlid21	IL1RAPL1	IL1RAPL1	https://raresource.nih.gov/literature/disease/0022669	0022669	300143		C5551510		interleukin 1 receptor accessory protein like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 21"	1
Intellectual disability, X-linked 58	intellectual developmental disorder, x-linked 58//intellectual developmental disorder, x-linked 58, x-linked recessive//intellectual disability, x-linked type 58//mental retardation, x-linked type 58//non-syndromic x-linked intellectual disability caused by mutation in tspan7//tspan7 non-syndromic x-linked intellectual disability//xlid58	TSPAN7	TSPAN7	https://raresource.nih.gov/literature/disease/0022670	0022670	300210		C1846174	C564566	tetraspanin 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 58"	None
Intellectual disability, X-linked 72	intellectual developmental disorder, x-linked 72//intellectual developmental disorder, x-linked 72, x-linked recessive//intellectual disability, x-linked type 72//mental retardation, x-linked type 72//xlid72	RAB39B	RAB39B	https://raresource.nih.gov/literature/disease/0022671	0022671	300271		C1846038	C564547	RAB39B, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 72"	None
Intellectual disability, X-linked 30	intellectual developmental disorder, x-linked 30//intellectual developmental disorder, x-linked 30, x-linked recessive//intellectual disability, x-linked type 30//mental retardation, x-linked 47//mental retardation, x-linked type 30//non-syndromic x-linked intellectual disability caused by mutation in pak3//pak3 non-syndromic x-linked intellectual disability//xlid30	PAK3	PAK3	https://raresource.nih.gov/literature/disease/0022682	0022682	300558		C0796237		p21 (RAC1) activated kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 30"	None
Intellectual disability, X-linked 96	intellectual developmental disorder, x-linked 96//intellectual developmental disorder, x-linked 96, x-linked recessive//intellectual disability, x-linked type 96//mental retardation, x-linked type 96//non-syndromic x-linked intellectual disability caused by mutation in syp//syp non-syndromic x-linked intellectual disability//syp-related x-linked mental retardation//xlid96	SYP	SYP	https://raresource.nih.gov/literature/disease/0022685	0022685	300802		C3275408		synaptophysin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 96"	None
Intellectual disability, X-linked 97	intellectual developmental disorder, x-linked 97//intellectual disability, x-linked type 97//mental retardation, x-linked type 97//non-syndromic x-linked intellectual disability caused by mutation in znf711//xlid97//znf711 non-syndromic x-linked intellectual disability	ZNF711	ZNF711	https://raresource.nih.gov/literature/disease/0022686	0022686	300803		C2749020	C567583	zinc finger protein 711	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 97"	None
Intellectual disability, X-linked 19	intellectual developmental disorder, x-linked 19//intellectual developmental disorder, x-linked 19, x-linked dominant//intellectual disability, x-linked type 19//mental retardation, x-linked type 19//non-syndromic x-linked intellectual disability caused by mutation in rps6ka3//rps6ka3 non-syndromic x-linked intellectual disability//xlid19	RPS6KA3	RPS6KA3	https://raresource.nih.gov/literature/disease/0022687	0022687			C0796225	C563141	ribosomal protein S6 kinase A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 19"	None
Intellectual disability, X-linked 41	gdi1 non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked 41//intellectual developmental disorder, x-linked 41, x-linked dominant//intellectual disability, x-linked type 41//mental retardation, x-linked 48//mental retardation, x-linked type 41//non-syndromic x-linked intellectual disability caused by mutation in gdi1//xlid41	GDI1	GDI1	https://raresource.nih.gov/literature/disease/0022689	0022689	300849		C3887939		GDP dissociation inhibitor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 41"	None
Intellectual disability, X-linked 90	dlg3 non-syndromic x-linked intellectual disability//dlg3-related x-linked nonsyndromic mental retardation//intellectual developmental disorder, x-linked 90//intellectual developmental disorder, x-linked 90, x-linked recessive//intellectual disability, x-linked type 90//mental retardation, x-linked type 90//non-syndromic x-linked intellectual disability caused by mutation in dlg3//xlid90	DLG3	DLG3	https://raresource.nih.gov/literature/disease/0022690	0022690	300850		C3275443		discs large MAGUK scaffold protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 90"	1
Intellectual disability, X-linked 99	intellectual developmental disorder, x-linked 99//intellectual developmental disorder, x-linked 99, x-linked recessive//intellectual disability, x-linked type 99//mental retardation, x-linked type 99//non-syndromic x-linked intellectual disability caused by mutation in usp9x//usp9x non-syndromic x-linked intellectual disability//xlid99	USP9X	USP9X	https://raresource.nih.gov/literature/disease/0022693	0022693	300919		C3806746		ubiquitin specific peptidase 9 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 99"	1
Intellectual disability, X-linked 101	intellectual developmental disorder, x-linked 101, x-linked recessive//intellectual disability, x-linked type 101//mental retardation, x-linked type 101//mid2 non-syndromic x-linked intellectual disability//non-syndromic x-linked intellectual disability caused by mutation in mid2//xlid101	MID2	MID2	https://raresource.nih.gov/literature/disease/0022694	0022694	300928		C3890168		midline 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 101"	None
Intellectual disability, X-linked 61	intellectual disability, x-linked type 61//mental retardation, x-linked 61//mental retardation, x-linked type 61//mrx61//non-syndromic x-linked intellectual disability caused by mutation in rlim//rlim non-syndromic x-linked intellectual disability//tokas//tonne-kalscheuer syndrome	RLIM	RLIM	https://raresource.nih.gov/literature/disease/0022695	0022695	300978		C4283894		ring finger protein, LIM domain interacting	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 61"	5
Intellectual disability, X-linked 104	frmpd4 non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked 104//intellectual disability, x-linked type 104//mental retardation, x-linked 104//mental retardation, x-linked type 104//mrx104//non-syndromic x-linked intellectual disability caused by mutation in frmpd4//xlid104	FRMPD4	FRMPD4	https://raresource.nih.gov/literature/disease/0022696	0022696	300983		C4310817		FERM and PDZ domain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 104"	1
Intellectual disability, X-linked 105	intellectual developmental disorder, x-linked 105//intellectual developmental disorder, x-linked 105, x-linked recessive//intellectual disability, x-linked type 105//mental retardation, x-linked 105//mental retardation, x-linked type 105//mrx105//non-syndromic x-linked intellectual disability caused by mutation in usp27x//usp27x non-syndromic x-linked intellectual disability//xlid105	USP27X	USP27X	https://raresource.nih.gov/literature/disease/0022697	0022697	300984		C4310816		ubiquitin specific peptidase 27 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 105"	None
Intellectual disability, X-linked 107	intellectual developmental disorder, x-linked 107//mental retardation, x-linked 107	STEEP1	STEEP1	https://raresource.nih.gov/literature/disease/0022698	0022698	301013		C4692652		STING1 ER exit protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 107"	None
Intellectual disability, X-linked 1	atkin flaitz patil smith syndrome//intellectual developmental disorder, x-linked 1//intellectual developmental disorder, x-linked 1, x-linked dominant//iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability//iqsec2-related disorder//iqsec2-related syndromic intellectual disability//mental retardation, x-linked 1//mental retardation, x-linked 18//mental retardation, x-linked 78//mental retardation, x-linked type 1//mental retardation, x-linked, nonspecific//mrx//mrx1//mrx78//severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome//xlid1	IQSEC2	IQSEC2	https://raresource.nih.gov/literature/disease/0022699	0022699	309530	397933	C2931498	C564489;C567906	IQ motif and Sec7 domain ArfGEF 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 1"	80
Intellectual disability, X-linked 9	ftsj1 non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked 9//intellectual developmental disorder, x-linked 9, x-linked recessive//intellectual disability, x-linked type 9//mental retardation, x-linked 44//mental retardation, x-linked type 9//non-syndromic x-linked intellectual disability caused by mutation in ftsj1//xlid9	FTSJ1	FTSJ1	https://raresource.nih.gov/literature/disease/0022700	0022700	309549		C0796215	C563137	FtsJ RNA 2'-O-methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 9"	None
Epithelial-stromal TGFBI dystrophy	corneal dystrophy (disease) caused by mutation in tgfbi//tgfbi corneal dystrophy (disease)	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0022827	0022827			CN322643		transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epithelial-stromal TGFBI dystrophy"	169
Arrhythmogenic right ventricular dysplasia 13	arrhythmogenic right ventricular cardiomyopathy 13//arrhythmogenic right ventricular cardiomyopathy caused by mutation in ctnna3//arrhythmogenic right ventricular dysplasia type 13//arrhythmogenic right ventricular dysplasia, familial, 13//arrhythmogenic right ventricular dysplasia, familial, type 13//arvc13//arvd13//ctnna3 arrhythmogenic right ventricular cardiomyopathy//familial arrhythmogenic right ventricular dysplasia 13	CTNNA3	CTNNA3	https://raresource.nih.gov/literature/disease/0022844	0022844	615616		C3810138		catenin alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 13"	None
Somatotroph adenoma	acromegaly due to pituitary adenoma 1//aip familial isolated pituitary adenomas//growth hormone secreting pituitary adenoma 1//isolated familial somatotropinoma//pita1//pituitary adenoma 1, multiple types//pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation//pituitary adenoma predisposition, autosomal dominant, somatic mutation//pituitary adenoma, growth hormone-secreting//pituitary adenoma, growth hormone-secreting, type 1//pituitary tumor, growth hormone-secreting, somatic//somatotrophinoma, familial	AIP	AIP	https://raresource.nih.gov/literature/disease/0024520	0024520			C4538355		AHR interacting HSP90 co-chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Somatotroph adenoma"	122
Pyruvate kinase hyperactivity		PKLR	PKLR	https://raresource.nih.gov/literature/disease/0024521	0024521	102900		C1863224	C566310	pyruvate kinase L/R	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate kinase hyperactivity"	2
Amyotrophic lateral sclerosis type 1	als (amyotrophic lateral sclerosis) type 1//als1//als1 - amyotrophic lateral sclerosis type 1//amyotrophic lateral sclerosis 1//amyotrophic lateral sclerosis 1, familial//sod1-related amyotrophic lateral sclerosis	DCTN1;PRPH;SOD1	DCTN1;PRPH;SOD1	https://raresource.nih.gov/literature/disease/0024523	0024523			C1862939	C531617	dynactin subunit 1; peripherin; superoxide dismutase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis type 1"	14
Anterior segment dysgenesis 1	anterior segment dysgenesis 1, multiple subtypes//asgd1//foxe3-related anterior segment mesenchymal dysgenesis	PITX3	PITX3	https://raresource.nih.gov/literature/disease/0024525	0024525			C4551992		paired like homeodomain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 1"	None
Arrhythmogenic right ventricular dysplasia 1	arrhythmogenic right ventricular cardiomyopathy 1//arrhythmogenic right ventricular cardiomyopathy caused by mutation in tgfb3//arrhythmogenic right ventricular dysplasia type 1//arrhythmogenic right ventricular dysplasia, familial, type 1//arvc1//arvd1//familial arrhythmogenic right ventricular dysplasia 1//tgfb3 arrhythmogenic right ventricular cardiomyopathy	TGFB3	TGFB3	https://raresource.nih.gov/literature/disease/0024526	0024526			C1862511		transforming growth factor beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 1"	6
Arthrogryposis, distal, type 1A	amc//arthrogryposis multiplex congenita, distal, type i//da1a	TPM2	TPM2	https://raresource.nih.gov/literature/disease/0024527	0024527	108120		C0220662		tropomyosin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 1A"	464
Cole-Carpenter syndrome 1	bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features//clcrp1//cole-carpenter syndrome caused by mutation in p4hb//cole-carpenter syndrome type 1//p4hb cole-carpenter syndrome	P4HB	P4HB	https://raresource.nih.gov/literature/disease/0024531	0024531			C4317154		prolyl 4-hydroxylase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cole-Carpenter syndrome 1"	2
Brachydactyly type E1	bde1//brachydactyly type e caused by mutation in hoxd13//hoxd13 brachydactyly type e	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0024533	0024533			C1862102	C566194	homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type E1"	1
Branchiootorenal syndrome 1	branchiootorenal syndrome 1, with or without cataracts//branchiootorenal syndrome type 1//eya1-related branchiootorenal spectrum disorders	SIX1;EYA1	SIX1;EYA1	https://raresource.nih.gov/literature/disease/0024535	0024535			C4551702		SIX homeobox 1; EYA transcriptional coactivator and phosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiootorenal syndrome 1"	None
Cardiofaciocutaneous syndrome 1	braf cardiofaciocutaneous syndrome//braf-related cardiofaciocutaneous syndrome//cardiofaciocutaneous syndrome caused by mutation in braf//cardiofaciocutaneous syndrome type 1//cfc1	BRAF	BRAF	https://raresource.nih.gov/literature/disease/0024539	0024539			CN029449		B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiofaciocutaneous syndrome 1"	None
Hypertrophic cardiomyopathy 2	cardiomyopathy familial hypertrophic 2//cardiomyopathy, familial hypertrophic, type 2//cardiomyopathy, hypertrophic, 2//cmh2//familial hypertrophic cardiomyopathy type 2//hypertrophic cardiomyopathy caused by mutation in tnnt2//hypertrophic cardiomyopathy type 2//tnnt2 hypertrophic cardiomyopathy//tnnt2-related familial hypertrophic cardiomyopathy	TNNT2	TNNT2	https://raresource.nih.gov/literature/disease/0024540	0024540	115195		C1861864	C566171	troponin T2, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 2"	None
Hypertrophic cardiomyopathy 3	cardiomyopathy familial hypertrophic 3//cardiomyopathy, familial hypertrophic, type 3//cardiomyopathy, hypertrophic, 3//cmh3//hypertrophic cardiomyopathy caused by mutation in tpm1//hypertrophic cardiomyopathy type 3//tpm1 hypertrophic cardiomyopathy//tpm1-related familial hypertrophic cardiomyopathy	TPM1	TPM1	https://raresource.nih.gov/literature/disease/0024541	0024541	115196		C1861863	C566170	tropomyosin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 3"	None
Hypertrophic cardiomyopathy 4	cardiomyopathy, familial hypertrophic, 4//cardiomyopathy, familial hypertrophic, type 4//cardiomyopathy, hypertrophic, 4//cmh4//familial hypertrophic cardiomyopathy 4//familial hypertrophic cardiomyopathy type 4//hypertrophic cardiomyopathy caused by mutation in mybpc3//hypertrophic cardiomyopathy type 4//mybpc3 hypertrophic cardiomyopathy	MYBPC3	MYBPC3	https://raresource.nih.gov/literature/disease/0024542	0024542	115197		C1861862	C566169	myosin binding protein C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 4"	1
Cataract 42	a cataract that has_material_basis_in heterozygous mutation in the cryba2 gene on chromosome 2q35.//cataract type 42//cataract, floriform//cryba2 early-onset non-syndromic cataract//ctrct42//early-onset non-syndromic cataract caused by mutation in cryba2	CRYBA2	CRYBA2	https://raresource.nih.gov/literature/disease/0024543	0024543	115900		C4011454		crystallin beta A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 42"	None
Cataract 20 multiple types	cataract (disease) caused by mutation in crygs//crygs cataract (disease)//ctrct20//membranous cataract	CRYGS	CRYGS	https://raresource.nih.gov/literature/disease/0024544	0024544	116100		C0524524		crystallin gamma S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 20 multiple types"	17
Cataract 30	cataract 30 pulverulent//cataract 30, pulverulent//cataract coppock-like//cataract type 30//ctrct30	VIM	VIM	https://raresource.nih.gov/literature/disease/0024545	0024545	116300		C3805411	C566157	vimentin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 30"	None
Cataract 13 with adult I phenotype	ctrct13	GCNT2	GCNT2	https://raresource.nih.gov/literature/disease/0024546	0024546	116700		C3805373		glucosaminyl (N-acetyl) transferase 2 (I blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 13 with adult I phenotype"	None
Cataract 5 multiple types	cataract (disease) caused by mutation in hsf4//cataract 5, lamellar//cataract, marner type//congenital lamellar cataract//congenital zonular cataract//ctrct5//hsf4 cataract (disease)//lamellar cataract	HSF4	HSF4	https://raresource.nih.gov/literature/disease/0024547	0024547	116800		C0266537	C535342	heat shock transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 5 multiple types"	47
Cirrhosis, familial	cryptogenic cirrhosis//hereditary cirrhosis of liver	KRT18	KRT18	https://raresource.nih.gov/literature/disease/0024551	0024551	215600		C1861556	C566123	keratin 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cirrhosis, familial"	803
Van der Woude syndrome 1	cleft lip and/or palate with mucous cysts of lower lip//irf6 van der woude syndrome//van der woude syndrome caused by mutation in irf6//van der woude syndrome type 1	IRF6	IRF6	https://raresource.nih.gov/literature/disease/0024552	0024552			C4551864		interferon regulatory factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van der Woude syndrome 1"	None
C1 inhibitor deficiency		SERPING1	SERPING1	https://raresource.nih.gov/literature/disease/0024554	0024554	120790		C1852700		serpin family G member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C1 inhibitor deficiency"	470
Cornelia de Lange syndrome 1	cdls1//cornelia de lange syndrome caused by mutation in nipbl//cornelia de lange syndrome type 1//nipbl cornelia de lange syndrome//nipbl-related cornelia de lange syndrome	NIPBL	NIPBL	https://raresource.nih.gov/literature/disease/0024555	0024555			C4551851		NIPBL cohesin loading factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornelia de Lange syndrome 1"	2
Spondylocostal dysostosis 5	costovertebral segmentation anomalies//scdo5//scoliosis, congenital, with or without rib anomalies//spondylocostal dysostosis caused by mutation in tbx6//spondylocostal dysostosis type 5//spondylothoracic dysostosis//tbx6 spondylocostal dysostosis	TBX6	TBX6	https://raresource.nih.gov/literature/disease/0024556	0024556	122600		C4083048		T-box transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocostal dysostosis 5"	28
Autosomal dominant nonsyndromic hearing loss 1	deafness, autosomal dominant 1, with or without thrombocytopenia//dfna 1 nonsyndromic hearing loss and deafness//hereditary low frequency hearing loss 1//konigsmark syndrome//lfhl1	DIAPH1	DIAPH1	https://raresource.nih.gov/literature/disease/0024557	0024557			C1852282	C565121	diaphanous related formin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nonsyndromic hearing loss 1"	None
Ehlers-Danlos syndrome, dominant type 4	autosomal dominant ehlers-danlos syndrome, vascular type//ehlers-danlos syndrome, type iv, autosomal dominant//ehlers-danlos syndrome, vascular type, autosomal dominant	COL3A1	COL3A1	https://raresource.nih.gov/literature/disease/0024560	0024560			C0268339		collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, dominant type 4"	None
Amelogenesis imperfecta, type 3A	adhcai//ai3//ai3a//amelogenesis imperfecta caused by mutation in fam83h//amelogenesis imperfecta, type iiia//amelogenesis imperfecta, type iiia, localized//autosomal dominant amelogenesis imperfecta hypocalcification type//fam83h amelogenesis imperfecta	FAM83H	FAM83H	https://raresource.nih.gov/literature/disease/0024562	0024562			C5886770	C562880	family with sequence similarity 83 member H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, type 3A"	19
Foveal hypoplasia 1	foveal hypoplasia 1 with anterior segment anomalies//foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract//foveal hypoplasia caused by mutation in pax6//foveal hypoplasia type 1//pax6 foveal hypoplasia	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0024566	0024566	136520		C3805604		paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Foveal hypoplasia 1"	None
Chromosome 16p12.1 deletion syndrome, 520kb	16p12.2 microdeletion//chromosome 16p12.1 deletion syndrome//chromosome 16p12.1 deletion syndrome, type 520kb//recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)	FRA16E	FRA16E	https://raresource.nih.gov/literature/disease/0024567	0024567	136570		C3149276	C565001	fragile site, distamycin A type, rare, fra(16)(p12.1)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 16p12.1 deletion syndrome, 520kb"	None
Hepatic adenomas, familial	hepatic adenoma, somatic//liver cell adenomas, familial	HNF1A	HNF1A	https://raresource.nih.gov/literature/disease/0024570	0024570	142330		C1840646	C564190	HNF1 homeobox A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatic adenomas, familial"	None
Holoprosencephaly 3	hlp3//holoprosencephaly caused by mutation in shh//holoprosencephaly type 3//hpe3//shh holoprosencephaly	SHH	SHH	https://raresource.nih.gov/literature/disease/0024572	0024572	142945		C1840529	C564181	sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 3"	7
Holoprosencephaly 4	holoprosencephaly caused by mutation in tgif1//holoprosencephaly type 4//hpe4//tgif1 holoprosencephaly	TGIF1	TGIF1	https://raresource.nih.gov/literature/disease/0024573	0024573	142946		C1840528	C564180	TGFB induced factor homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 4"	None
Hypercholesterolemia, familial, 1	fhcl1//hyper-beta-lipoproteinemia//hyper-low-density-lipoproteinemia//hypercholesterolemia, familial//hypercholesterolemia, familial, due to ldlr defect, modifier of//hypercholesterolemia, familial, modifier of//hypercholesterolemic xanthomatosis, familial//hyperlipoproteinemia type 2//hyperlipoproteinemia type iia//hyperlipoproteinemia, type 2//hyperlipoproteinemia, type 2a//ldl cholesterol level qtl2//ldlr-related familial hypercholesterolemia, autosomal dominant	LDLR;PPP1R17	LDLR;PPP1R17	https://raresource.nih.gov/literature/disease/0024574	0024574	143890		C0745103		low density lipoprotein receptor; protein phosphatase 1 regulatory subunit 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholesterolemia, familial, 1"	70
Nonpapillary renal cell carcinoma	renal carcinoma, chromophobe, somatic//renal cell carcinoma, clear cell//renal cell carcinoma, clear cell, somatic//renal cell carcinoma, somatic	HNF1A;OGG1;HNF1B;FLCN;RNF139;VHL	HNF1A;OGG1;HNF1B;FLCN;RNF139;VHL	https://raresource.nih.gov/literature/disease/0024575	0024575			CN074294		HNF1 homeobox A; 8-oxoguanine DNA glycosylase; HNF1 homeobox B; folliculin; ring finger protein 139; von Hippel-Lindau tumor suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nonpapillary renal cell carcinoma"	19
Selective pituitary resistance to thyroid hormone	hyperthyroidism, familial, due to inappropriate thyrotropin secretion//prth//resistance to thyroid hormone beta//resistance to thyroid hormone due to mutation in thyroid hormone receptor beta//resistance to thyroid hormone due to mutation in trb	THRB	THRB	https://raresource.nih.gov/literature/disease/0024576	0024576	145650		C1840364	C564154	thyroid hormone receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Selective pituitary resistance to thyroid hormone"	58
Hypertriglyceridemia 1	hypertriglyceridemia, familial	APOA5	APOA5	https://raresource.nih.gov/literature/disease/0024577	0024577	145750		C5444012		apolipoprotein A5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertriglyceridemia 1"	None
Hypoparathyroidism, familial isolated 1	fih1	PTH	PTH	https://raresource.nih.gov/literature/disease/0024578	0024578	146200		C5241444		parathyroid hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoparathyroidism, familial isolated 1"	None
Kabuki syndrome 1	kabuk1//kabuki syndrome type 1//kmt2d-related kabuki syndrome	KMT2D;KDM6A	KMT2D;KDM6A	https://raresource.nih.gov/literature/disease/0024579	0024579			CN030661		lysine methyltransferase 2D; lysine demethylase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kabuki syndrome 1"	20
Keratitis fugax hereditaria	keratoendotheliitis fugax hereditaria//keratoendothelitis fugax hereditaria//kfh - keratitis fugax hereditaria	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0024580	0024580	148200	647815	C1835697	C563650	NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratitis fugax hereditaria"	11
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	autosomal dominant keratitis, ichthyosis, deafness syndrome//autosomal dominant kid (keratitis, ichthyosis, deafness) syndrome//autosomal dominant kid syndrome//keratitis-ichthyosis -deafness syndrome//kid syndrome, autosomal dominant	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0024581	0024581			C0265336		gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant keratitis-ichthyosis-hearing loss syndrome"	123
Keratoconus 1	keratoconus (disease) caused by mutation in vsx1//keratoconus type 1//ktcn1//vsx1 keratoconus (disease)	VSX1	VSX1	https://raresource.nih.gov/literature/disease/0024582	0024582	148300		C1835677	C563649	visual system homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratoconus 1"	None
Hyperekplexia 1	exaggerated startle reaction//glra1-related hyperekplexia//gphn-related hyperekplexia//hkpx1//hyperekplexia 1, autosomal dominant//hyperekplexia 1, autosomal recessive//hyperekplexia type 1//hyperekplexia, hereditary type 1//startle disease, familial//sthe//stiff-baby syndrome//stiff-man syndrome, congenital//stiff-person syndrome, congenital	GLRA1;GPHN	GLRA1;GPHN	https://raresource.nih.gov/literature/disease/0024583	0024583			C4551954		glycine receptor alpha 1; gephyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperekplexia 1"	27
Lazy leukocyte syndrome	periodic fever, immunodeficiency, and thrombocytopenia syndrome//periodic fever, immunodeficiency, thrombocytopenia syndrome	WDR1	WDR1	https://raresource.nih.gov/literature/disease/0024584	0024584	150550	652522	C0272174	C562721	WD repeat domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lazy leukocyte syndrome"	20
Age related macular degeneration 2	age related macular degeneration type 2//armd2//macular degeneration, age-related, type 2//macular degeneration, senile//maculopathy, age-related//maculopathy, age-related, 2	ABCA4	ABCA4	https://raresource.nih.gov/literature/disease/0024587	0024587	153800		C3495438	C562479	ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 2"	None
Treacher Collins syndrome 1	tcof1 treacher-collins syndrome//tcof1-related treacher collins syndrome//tcs1//treacher collins syndrome type 1//treacher-collins syndrome caused by mutation in tcof1	TCOF1	TCOF1	https://raresource.nih.gov/literature/disease/0024589	0024589			CN315775		treacle ribosome biogenesis factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher Collins syndrome 1"	5
Congenital macrodactylia	congenital hypertrophy of digit//congenital macrodactyly//dactylomegaly//finger overgrowth//macrodactyly//macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic//megalodactyly	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0024591	0024591	155500		C0265552	C562546	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital macrodactylia"	356
Holoprosencephaly 2	holoprosencephaly caused by mutation in six3//holoprosencephaly type 2//hpe2//six3 holoprosencephaly	SIX3	SIX3	https://raresource.nih.gov/literature/disease/0024593	0024593	157170		C1834877	C563579	SIX homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 2"	4
Neurofibromatosis, familial spinal	familial spinal neurofibromatosis//fsnf	NF1	NF1	https://raresource.nih.gov/literature/disease/0024599	0024599	162210		C1834235	C563523	neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis, familial spinal"	9
Epidermal nevus	epidermal nevi//epidermal nevus, somatic//epithelial nevus//nevus sebaceous or woolly hair nevus, somatic//nevus sebaceous or wooly hair nevus, somatic//nevus, epidermal//nevus, epidermal, somatic//nevus, keratinocytic, nonepidermolytic//nonepidermolytic keratinocytic nevus	NRAS;PIK3CA;FGFR3;HRAS	NRAS;PIK3CA;FGFR3;HRAS	https://raresource.nih.gov/literature/disease/0024601	0024601	162900		C0334082	C580062	NRAS proto-oncogene, GTPase; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; fibroblast growth factor receptor 3; HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermal nevus"	487
Optic atrophy 13 with retinal and foveal abnormalities	optic atrophy with negative electroretinograms	SSBP1	SSBP1	https://raresource.nih.gov/literature/disease/0024603	0024603	165510		C5435585	C563494	single stranded DNA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 13 with retinal and foveal abnormalities"	None
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia type 1//multisystem proteinopathy 1	VCP	VCP	https://raresource.nih.gov/literature/disease/0024608	0024608			C4551951	C563476	valosin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1"	7
Periodontitis, aggressive 1	aggressive periodontitis//juvenile periodontitis//periodontitis 1, juvenile//periodontitis, aggressive, type 1//periodontitis, juvenile//periodontitis, prepubertal	CTSC	CTSC	https://raresource.nih.gov/literature/disease/0024610	0024610	170650		C4551681	D010520	cathepsin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periodontitis, aggressive 1"	1585
Pick disease	dementia in pick's disease//dementia with lobar atrophy and neuronal cytoplasmic inclusions//lobar atrophy of brain//pick disease of brain//pick disease of the brain//pick's disease	MAPT;PSEN1	MAPT;PSEN1	https://raresource.nih.gov/literature/disease/0024611	0024611	172700		C0236642	D020774	microtubule associated protein tau; presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pick disease"	1315
Familial pityriasis rubra pilaris	hereditary pityriasis rubra pilaris//prp	CARD14	CARD14	https://raresource.nih.gov/literature/disease/0024612	0024612			C2930842	C531784	caspase recruitment domain family member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial pityriasis rubra pilaris"	421
Polycystic liver disease 1	adult type polycystic kidney disease type 1//apkd - adult type polycystic disease//autosomal dominant polycystic kidney disease type 1//nonsyndromic congenital polycystic liver disease//nonsyndromic polycystic liver disease (disease)//pcld1//pkd1 - polycystic kidney disease 1//polycystic liver disease 1 with or without kidney cysts	PRKCSH	PRKCSH	https://raresource.nih.gov/literature/disease/0024613	0024613	174050		C0887850		PRKCSH beta subunit of glucosidase II	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic liver disease 1"	8
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	jp-hht (juvenile polyposis with hereditary hemorrhagic telangiectasia) syndrome//jp/hht syndrome//jpht//juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia//juvenile polyposis with hereditary hemorrhagic telangiectasia//polyposis, generalized juvenile, with pulmonary arteriovenous malformation//smad4-related juvenile polyposis/hemorrhagic telangiectasia syndrome//telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli	SMAD4	SMAD4	https://raresource.nih.gov/literature/disease/0024614	0024614	175050		C1832942	C563412	SMAD family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	14
Central precocious puberty 1	centra precocious puberty 1//central precocious puberty caused by mutation in kiss1r//kiss1r central precocious puberty//precocious puberty, central, 1//precocious puberty, central, type 1//precocious puberty, gonadotropin-dependent	KISS1R	KISS1R	https://raresource.nih.gov/literature/disease/0024615	0024615	176400		C3805879		KISS1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central precocious puberty 1"	None
Protoporphyria, erythropoietic, 1	epp1//erythropoietic protoporphyria, autosomal recessive//ferrochelatase deficiency//heme synthetase deficiency	FECH	FECH	https://raresource.nih.gov/literature/disease/0024616	0024616			C4692546		ferrochelatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Protoporphyria, erythropoietic, 1"	28
Hereditary spherocytosis type 1	ank1 hereditary spherocytosis//ank1-related hereditary spherocytosis//ank1-related spherocytosis//hereditary spherocytosis 1//hereditary spherocytosis caused by mutation in ank1//hs1//sph1//spherocytosis type 1	ANK1	ANK1	https://raresource.nih.gov/literature/disease/0024621	0024621			C2674218		ankyrin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis type 1"	4
Telangiectasia, hereditary hemorrhagic, type 1	eng-related hereditary hemorrhagic telangiectasia//hereditary hemorrhagic telangiectasia type 1//hht1//osler weber rendu syndrome type 1//telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber	ENG	ENG	https://raresource.nih.gov/literature/disease/0024627	0024627	187300		C4551861		endoglin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia, hereditary hemorrhagic, type 1"	91
Platelet-type bleeding disorder 16	autosomal dominant glanzmann thrombasthenia//autosomal dominant thrombasthenia of glanzmann and naegeli//bdplt16//bleeding disorder, platelet-type, 16, autosomal dominant	ITGA2B	ITGA2B	https://raresource.nih.gov/literature/disease/0024629	0024629	187800		C5442010	C566061	integrin subunit alpha 2b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 16"	None
Thrombocythemia 1	mpl-related essential thrombocythemia//thcyt1//thpo-related essential thrombocythemia//thrombocythemia type 1//thrombocythemia, somatic//thrombocytosis 1	SH2B3;CALR;THPO	SH2B3;CALR;THPO	https://raresource.nih.gov/literature/disease/0024630	0024630	187950		C3277671		SH2B adaptor protein 3; calreticulin; thrombopoietin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocythemia 1"	1
Thrombophilia due to activated protein C resistance	activated protein c resistance//apc resistance//factor v cambridge thrombophilia//hereditary resistance to activated protein c//pccf deficiency//proc cofactor deficiency//thph2//thrombophilia 2 due to activated protein c resistance//thrombophilia due to deficiency of activated protein c cofactor//thrombophilia v	F5	F5	https://raresource.nih.gov/literature/disease/0024631	0024631	188055		C1861171	D020016	coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia due to activated protein C resistance"	165
Thyroid cancer, nonmedullary, 1	thyroid cancer, nonmedullary, type 1	NKX2-1	NKX2-1	https://raresource.nih.gov/literature/disease/0024632	0024632	188550		C4721429		NK2 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid cancer, nonmedullary, 1"	None
Thyroid hormone resistance, generalized, autosomal dominant	grthd//hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones//thyroid hormone resistance, autosomal dominant	THRB	THRB	https://raresource.nih.gov/literature/disease/0024633	0024633	188570		C2937288	C567934	thyroid hormone receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid hormone resistance, generalized, autosomal dominant"	None
Hypertrophic cardiomyopathy 1	cardiomyopathy, familial hypertrophic 1//cardiomyopathy, familial hypertrophic, autosomal dominant, digenic dominant//cardiomyopathy, familial hypertrophic, type 1//cardiomyopathy, hypertrophic, 1, autosomal dominant, digenic dominant//cardiomyopathy, hypertrophic, 1, digenic, autosomal dominant, digenic dominant//cmh1//familial hypertrophic cardiomyopathy 1//hypertrophic cardiomyopathy caused by mutation in myh7//hypertrophic cardiomyopathy type 1//myh7 hypertrophic cardiomyopathy//myh7-related familial hypertrophic cardiomyopathy	MYH7;MYH6;MYLK2;CAV3	MYH7;MYH6;MYLK2;CAV3	https://raresource.nih.gov/literature/disease/0024636	0024636	192600		C3495498		myosin heavy chain 7; myosin heavy chain 6; myosin light chain kinase 2; caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 1"	None
White sponge nevus 1	hereditary mucosal leukokeratosis caused by mutation in krt4//krt4 hereditary mucosal leukokeratosis//leukokeratosis, hereditary mucosal//white sponge nevus of cannon, krt13-related//white sponge nevus of cannon, krt4-related//white sponge nevus type 1	KRT4	KRT4	https://raresource.nih.gov/literature/disease/0024637	0024637			C4011926		keratin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=White sponge nevus 1"	None
Arterial calcification, generalized, of infancy, 1	arterial calcification of infancy caused by mutation in enpp1//arterial calcification, generalized, of infancy//arterial calcification, generalized, of infancy, type 1//enpp1 arterial calcification of infancy//gaci1//generalised arterial calcification of infancy 1//generalized arterial calcification of infancy 1	ENPP1	ENPP1	https://raresource.nih.gov/literature/disease/0024642	0024642	208000		C4551985		ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arterial calcification, generalized, of infancy, 1"	None
Joubert syndrome 1	cerebellooculorenal syndrome 1//cors1//cpd4//inpp5e joubert syndrome//inpp5e-related joubert syndrome//jbts1//joubert syndrome caused by mutation in inpp5e//joubert syndrome type 1	INPP5E	INPP5E	https://raresource.nih.gov/literature/disease/0024643	0024643			C4551568		inositol polyphosphate-5-phosphatase E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 1"	2
Peroxisome biogenesis disorder 1A (Zellweger)	pbd1a//peroxisome biogenesis disorder 1a//zellweger leukodystrophy	PEX1	PEX1	https://raresource.nih.gov/literature/disease/0024644	0024644			C4721541		peroxisomal biogenesis factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 1A (Zellweger)"	2
Wolfram syndrome 1	wfs1//wfs1 wolfram syndrome//wolfram syndrome caused by mutation in wfs1//wolfram syndrome type 1	WFS1	WFS1	https://raresource.nih.gov/literature/disease/0024648	0024648			C4551693		wolframin ER transmembrane glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolfram syndrome 1"	71
Anemia, congenital dyserythropoietic, type 1a	anemia, congenital dyserythropoietic, type ia//cdan1a//dyserythropoietic anemia, congenital, type ia	CDAN1	CDAN1	https://raresource.nih.gov/literature/disease/0024649	0024649			C5574667		codanin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anemia, congenital dyserythropoietic, type 1a"	None
Junctional epidermolysis bullosa, non-Herlitz type	adult junctional epidermolysis bullosa//col17a1-related junctional epidermolysis bullosa//epidermolysis bullosa junctionalis, disentis type//epidermolysis bullosa junctionalis, non-herlitz type//epidermolysis bullosa junctionalis, progressive//epidermolysis bullosa junctionalis, severe nonlethal//epidermolysis bullosa, junctional 1a, intermediate//epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant//jen-nh	LAMB3	LAMB3	https://raresource.nih.gov/literature/disease/0024652	0024652	226650		C0268374		laminin subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Junctional epidermolysis bullosa, non-Herlitz type"	None
Fibrochondrogenesis 1	col11a1 fibrochondrogenesis//fbcg1//fibrochondrogenesis caused by mutation in col11a1//fibrochondrogenesis type 1	COL11A1	COL11A1	https://raresource.nih.gov/literature/disease/0024653	0024653			C3278138		collagen type XI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrochondrogenesis 1"	3
Myofibromatosis, infantile, 1	myofibromatosis caused by mutation in pdgfrb//myofibromatosis, infantile, type 1//myofibromatosis, juvenile//pdgfrb myofibromatosis	PDGFRB	PDGFRB	https://raresource.nih.gov/literature/disease/0024654	0024654			C4551572	C562978	platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibromatosis, infantile, 1"	None
Perrault syndrome 1	gonadal dysgenesis, xx type, with deafness//hsd17b4 perrault syndrome//ovarian dysgenesis with sensorineural deafness//perrault syndrome caused by mutation in hsd17b4//perrault syndrome type 1//prlts1	HSD17B4	HSD17B4	https://raresource.nih.gov/literature/disease/0024656	0024656		642945	C4551721		hydroxysteroid 17-beta dehydrogenase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 1"	None
Hydrocephalus, nonsyndromic, autosomal recessive 1	ccdc88c congenital hydrocephalus//congenital hydrocephalus 1//congenital hydrocephalus caused by mutation in ccdc88c//hyc1//hydrocephalus, congenital, 1//hydrocephalus, nonsyndromic, autosomal recessive//hydrocephalus, nonsyndromic, autosomal recessive type 1//nonsyndromic hydrocephalus, ccdc88c-related	CCDC88C	CCDC88C	https://raresource.nih.gov/literature/disease/0024663	0024663			C3887608		coiled-coil domain containing 88C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrocephalus, nonsyndromic, autosomal recessive 1"	None
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	cerebroocular dysgenesis//cerebroocular dysplasia muscular dystrophy syndrome//chemke syndrome//cod-md syndrome//hard +/- e syndrome//mddga1//muscle-eye-brain-pomt1 related//pagon syndrome//walker-warburg syndrome or muscle-eye-brain disease, pomt1-related//warburg syndrome	POMT1;POMT2;FKTN;LARGE1;FKRP	POMT1;POMT2;FKTN;LARGE1;FKRP	https://raresource.nih.gov/literature/disease/0024665	0024665	236670		C4284790		protein O-mannosyltransferase 1; protein O-mannosyltransferase 2; fukutin; LARGE xylosyl- and glucuronyltransferase 1; fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"	20
Urofacial syndrome type 1	hpse2-related urofacial syndrome	HPSE2	HPSE2	https://raresource.nih.gov/literature/disease/0024666	0024666			CN033872		heparanase 2 (inactive)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Urofacial syndrome type 1"	None
Leydig cell agenesis	gonadotrophin unresponsiveness syndrome//gonadotropin unresponsiveness syndrome//hypergonadotropic hypogonadism, male, due to lhcgr defect//leydig cell dysgenesis//leydig cell hypoplasia caused by mutation in lhcgr//leydig cell hypoplasia with hypergonadotropic hypogonadism//leydig cell hypoplasia with male pseudohermaphroditism//leydig cell hypoplasia with pseudohermaphroditism//leydig cell hypoplasia, complete//leydig cell hypoplasia, type 1//leydig cell hypoplasia/agenesis//lhcgr leydig cell hypoplasia	LHCGR	LHCGR	https://raresource.nih.gov/literature/disease/0024669	0024669	238320		C0266432		luteinizing hormone/choriogonadotropin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leydig cell agenesis"	13
Proline dehydrogenase deficiency	hyperprolinemia caused by mutation in prodh//hyperprolinemia type 1//hyperprolinemia type i//hyperprolinemia, type i//hyrpro1//prodh hyperprolinemia//proline oxidase deficiency	PRODH	PRODH	https://raresource.nih.gov/literature/disease/0024670	0024670	239500	419	C0268529		proline dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proline dehydrogenase deficiency"	17
Kartagener syndrome	cild1//ciliary dyskinesia, primary, 1//ciliary dyskinesia, primary, 1, with or without situs inversus//ciliary dyskinesia, primary, type 1//dextrocardia bronchiectasis and sinusitis//dnai1 primary ciliary dyskinesia//polynesian bronchiectasis//primary ciliary dyskinesia 1//primary ciliary dyskinesia 1 with or without situs inversus//primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia//primary ciliary dyskinesia caused by mutation in dnai1//primary ciliary dyskinesia type 1//siewert syndrome	DNAI1	DNAI1	https://raresource.nih.gov/literature/disease/0024674	0024674			C4551906		dynein axonemal intermediate chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kartagener syndrome"	337
Lactic aciduria due to D-lactic acid	d-lactic aciduria with susceptibility to gout	LDHD	LDHD	https://raresource.nih.gov/literature/disease/0024675	0024675	245450		C5193006	C565446	lactate dehydrogenase D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lactic aciduria due to D-lactic acid"	None
Macrocephaly/megalencephaly syndrome, autosomal recessive	fryns dereymaeker haegeman syndrome//mgcph	TBC1D7	TBC1D7	https://raresource.nih.gov/literature/disease/0024680	0024680	248000		C3806412	C537453	TBC1 domain family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrocephaly/megalencephaly syndrome, autosomal recessive"	None
Meckel syndrome, type 1	meckel syndrome caused by mutation in mks1//meckel-gruber syndrome, type 1//mks1//mks1 meckel syndrome//mks1-related meckel syndrome	MKS1	MKS1	https://raresource.nih.gov/literature/disease/0024681	0024681			C3714506	C536133	MKS transition zone complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 1"	1
Autosomal recessive familial Mediterranean fever	familial mediterranean fever, ar//familial mediterranean fever, autosomal recessive	MEFV	MEFV	https://raresource.nih.gov/literature/disease/0024682	0024682			CN293506		MEFV innate immunity regulator, pyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive familial Mediterranean fever"	1
Ullrich congenital muscular dystrophy 1A	ullrich congenital muscular dystrophy 1	COL6A1	COL6A1	https://raresource.nih.gov/literature/disease/0024685	0024685	254090		C0410179		collagen type VI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ullrich congenital muscular dystrophy 1A"	None
Muscular dystrophy, congenital, with rapid progression	mdrp	BET1	BET1	https://raresource.nih.gov/literature/disease/0024686	0024686	254100		C1850840	C564983	Bet1 golgi vesicular membrane trafficking protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, congenital, with rapid progression"	54
Myopathy with abnormal lipid metabolism	lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	FLAD1	FLAD1	https://raresource.nih.gov/literature/disease/0024689	0024689	255100		C4310822	C562935	flavin adenine dinucleotide synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy with abnormal lipid metabolism"	None
Hyperinsulinemic hypoglycemia, familial, 1	abcc8 hyperinsulinemic hypoglycemia (disease)//abcc8-related hyperinsulinism//hhf1//hyperinsulinemic hypoglycemia (disease) caused by mutation in abcc8//hyperinsulinemic hypoglycemia due to sur1 deficiency//hyperinsulinemic hypoglycemia, familial, type 1//hyperinsulinism, familial, with pancreatic nesidioblastosis//hypoglycemia, hyperinsulinemic, of infancy//nesidioblastosis of pancreas//persistent hyperinsulinemic hypoglycemia of infancy	ABCC8	ABCC8	https://raresource.nih.gov/literature/disease/0024690	0024690	256450		C2931832		ATP binding cassette subfamily C member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinemic hypoglycemia, familial, 1"	88
Niemann-Pick disease, type C1	neurovisceral storage disease with vertical supranuclear ophthalmoplegia//niemann-pick disease without sphingomyelinase deficiency//niemann-pick disease, chronic neuronopathic form//niemann-pick disease, variant type c1//type c1 niemann-pick disease	NPC1	NPC1	https://raresource.nih.gov/literature/disease/0024693	0024693			C3179455		NPC intracellular cholesterol transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Niemann-Pick disease, type C1"	155
Mosaic variegated aneuploidy syndrome 1	bub1b mosaic variegated aneuploidy syndrome//mosaic variegated aneuploidy syndrome caused by mutation in bub1b//mosaic variegated aneuploidy syndrome type 1//mva1	BUB1B	BUB1B	https://raresource.nih.gov/literature/disease/0024694	0024694			C1850343		BUB1 mitotic checkpoint serine/threonine kinase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome 1"	3
Oguchi disease-1	congenital stationary night blindness oguchi type 1//csnbo1//oguchi disease caused by mutation in sag//oguchi disease type 1//sag oguchi disease	SAG	SAG	https://raresource.nih.gov/literature/disease/0024695	0024695			C4551824		S-antigen visual arrestin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oguchi disease-1"	1
Bruck syndrome 1	arthrogryposis-like disorder//brks1//bruck syndrome caused by mutation in fkbp10//bruck syndrome type 1//fkbp10 bruck syndrome	FKBP10	FKBP10	https://raresource.nih.gov/literature/disease/0024696	0024696			C1850168		FKBP prolyl isomerase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bruck syndrome 1"	4
Autosomal recessive inherited pseudoxanthoma elasticum	ar inherited pseudoxanthoma elasticum//autosomal recessive pseudoxanthoma elasticum//gronblad-strandberg syndrome//gronblad-strandberg-touraine syndrome//pseudoxanthoma elasticum//pxe	ABCC6	ABCC6	https://raresource.nih.gov/literature/disease/0024699	0024699	264800	758	C1275116	D011561	ATP binding cassette subfamily C member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive inherited pseudoxanthoma elasticum"	1751
Pulmonary hypertension, primary, autosomal recessive	pph5//pulmonary hypertension, primary, 5//pulmonary hypertension, primary, 5, autosomal recessive	ATP13A3	ATP13A3	https://raresource.nih.gov/literature/disease/0024700	0024700	265400		C5676877	C564862	ATPase 13A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary hypertension, primary, autosomal recessive"	None
Senior-Loken syndrome 1	juvenile nephronophthisis with leber amaurosis//nphp1 senior-loken syndrome//senior-loken syndrome caused by mutation in nphp1//senior-loken syndrome type 1//slsn1	NPHP1	NPHP1	https://raresource.nih.gov/literature/disease/0024701	0024701			C4551559		nephrocystin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome 1"	None
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6 spondyloepimetaphyseal dysplasia with joint laxity//semdjl1//semdjl1 - spondyloepimetaphyseal dysplasia with joint laxity type 1//spondyloepimetaphyseal dysplasia with joint laxity beighton type//spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in b3galt6//spondyloepimetaphyseal dysplasia with joint laxity type 1//spondyloepimetaphyseal dysplasia with joint laxity, beighton type//spondyloepimetaphyseal dysplasia with joint laxity, type 1	B3GALT6	B3GALT6	https://raresource.nih.gov/literature/disease/0024706	0024706	271640	642099	C4017377		beta-1,3-galactosyltransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	7
Thyroid hormone resistance, generalized, autosomal recessive	grthr//thyroid hormone resistance, autosomal recessive	THRB	THRB	https://raresource.nih.gov/literature/disease/0024711	0024711	274300		C3489796	C567936	thyroid hormone receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid hormone resistance, generalized, autosomal recessive"	None
X-linked Opitz G/BBB syndrome	g syndrome//gbbb//opitz bbbg syndrome, type i//opitz g/bbb syndrome, x-linked//opitz gbbb syndrome, type i, x-linked recessive//opitz syndrome, x-linked//opitz's (j.m.) syndrome//opitz-g syndrome, type i//x-linked opitz bbb/g syndrome//x-linked opitz syndrome//xlos	MID1	MID1	https://raresource.nih.gov/literature/disease/0024713	0024713	300000		C2936904		midline 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Opitz G/BBB syndrome"	81
Intellectual disability, X-linked, with panhypopituitarism	intellectual developmental disorder, x-linked, with isolated growth hormone deficiency//intellectual developmental disorder, x-linked, with panhypopituitarism//mental retardation, x-linked, with growth hormone deficiency//sox3	SOX3	SOX3	https://raresource.nih.gov/literature/disease/0024714	0024714	300123		C2678223		SRY-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked, with panhypopituitarism"	None
Simpson-Golabi-Behmel syndrome type 2	lethal variant of simpson-golabi-behmel syndrome//ofd1 simpson-golabi-behmel syndrome//sgbs2//simpson-golabi-behmel syndrome caused by mutation in ofd1//simpson-golabi-behmel syndrome, type 2, x-linked recessive	OFD1	OFD1	https://raresource.nih.gov/literature/disease/0024715	0024715	300209		C1846175	C564567	OFD1 centriole and centriolar satellite protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Simpson-Golabi-Behmel syndrome type 2"	8
Uruguay Faciocardiomusculoskeletal syndrome	uruguay faciocardiomusculoskeletal syndrome, x-linked recessive	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0024717	0024717	300280		C1846010	C564544	four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uruguay Faciocardiomusculoskeletal syndrome"	1
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	thrombocytopenia, x-linked, with or without dyserythropoietic anemia, x-linked recessive//x-linked thrombocytopenia, with or without dyserythropoietic anaemia//x-linked thrombocytopenia, with or without dyserythropoietic anemia//xltda	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0024718	0024718	300367		C3550789		GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"	None
Premature ovarian failure 2A	diaph2 primary ovarian failure//premature ovarian failure 2a, x-linked dominant//premature ovarian failure type 2a//primary ovarian failure caused by mutation in diaph2	DIAPH2	DIAPH2	https://raresource.nih.gov/literature/disease/0024719	0024719	300511		C1845293	C564498	diaphanous related formin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 2A"	None
Premature ovarian failure 2B	pof1b primary ovarian failure//premature ovarian failure 2b, x-linked recessive//premature ovarian failure type 2b//primary ovarian failure caused by mutation in pof1b	POF1B	POF1B	https://raresource.nih.gov/literature/disease/0024721	0024721	300604		C1845105	C564476	POF1B actin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 2B"	None
Intellectual disability, X-linked 93	brwd3 non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked 93, x-linked recessive//intellectual disability, x-linked type 93//mental retardation, x-linked type 93//mental retardation, x-linked, with macrocephaly//non-syndromic x-linked intellectual disability caused by mutation in brwd3//x-linked intellectual developmental disorder-93//xlid93	BRWD3	BRWD3	https://raresource.nih.gov/literature/disease/0024722	0024722	300659		C1970841	C567066	bromodomain and WD repeat domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 93"	None
Syndromic X-linked intellectual disability 14	intellectual developmental disorder, x-linked syndromic 14, x-linked recessive//intellectual developmental disorder, x-linked, syndromic 14//intellectual disability, x-linked, syndromic 14//intellectual disability, x-linked, syndromic type 14//mental retardation, x-linked, syndromic 14//mental retardation, x-linked, syndromic type 14//mrxs14//syndromic x-linked intellectual disability type 14//upf3b x-linked syndromic intellectual disability//x-linked syndromic intellectual disability caused by mutation in upf3b	UPF3B	UPF3B	https://raresource.nih.gov/literature/disease/0024723	0024723	300676		C1970822	C567063	UPF3B regulator of nonsense mediated mRNA decay	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic X-linked intellectual disability 14"	None
Thrombophilia, X-linked, due to factor 9 defect	deep venous thrombosis, protection against, x-linked recessive//thrombophilia 8, x-linked, due to factor ix defect, x-linked recessive//thrombophilia, x-linked, due to factor ix defect	F9	F9	https://raresource.nih.gov/literature/disease/0024725	0024725	300807		C2749016	C567581	coagulation factor IX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia, X-linked, due to factor 9 defect"	None
Paroxysmal nocturnal hemoglobinuria 1	paroxysmal nocturnal hemoglobinuria caused by mutation in piga//paroxysmal nocturnal hemoglobinuria type 1//paroxysmal nocturnal hemoglobinuria, somatic//piga paroxysmal nocturnal hemoglobinuria//pnh1	PIGA	PIGA	https://raresource.nih.gov/literature/disease/0024726	0024726			C3806670		phosphatidylinositol glycan anchor biosynthesis class A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal nocturnal hemoglobinuria 1"	None
Intellectual disability, X-linked 100	intellectual developmental disorder, x-linked 100, x-linked recessive//intellectual disability, x-linked type 100//kif4a non-syndromic x-linked intellectual disability//mental retardation, x-linked type 100//non-syndromic x-linked intellectual disability caused by mutation in kif4a//xlid100	KIF4A	KIF4A	https://raresource.nih.gov/literature/disease/0024729	0024729	300923		C3890167		kinesin family member 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 100"	1
Intellectual disability, X-linked 102	ddx3x non-syndromic x-linked intellectual disability//intellectual developmental disorder, x-linked syndromic, snijders blok type//intellectual developmental disorder, x-linked, syndrome, snijders blok type, x-linked recessive, x-linked dominant//intellectual disability, x-linked type 102//mental retardation, x-linked type 102//mrxssb//non-syndromic x-linked intellectual disability caused by mutation in ddx3x	DDX3X	DDX3X	https://raresource.nih.gov/literature/disease/0024730	0024730	300958		C5393299		DEAD-box helicase 3 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 102"	3
Intellectual disability, X-linked, syndromic 33	intellectual developmental disorder, x-linked syndromic 33, x-linked recessive//intellectual developmental disorder, x-linked, syndromic 33//intellectual disability, x-linked, syndromic type 33//mental retardation, x-linked, syndromic 33//mental retardation, x-linked, syndromic type 33//mrxs33//taf1 x-linked syndromic intellectual disability//x-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome//x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome//x-linked syndromic intellectual disability caused by mutation in taf1	TAF1	TAF1	https://raresource.nih.gov/literature/disease/0024731	0024731	300966	480907	C4225418		TATA-box binding protein associated factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked, syndromic 33"	None
Intellectual disability, X-linked 99, syndromic, female-restricted	intellectual developmental disorder, x-linked 99, syndromic, female-restricted//intellectual developmental disorder, x-linked 99, syndromic, female-restricted, x-linked dominant//mental retardation, x-linked 99, syndromic, female-restricted//mrxs99f//usp9x x-linked syndromic intellectual disability//x-linked syndromic intellectual disability caused by mutation in usp9x	USP9X	USP9X	https://raresource.nih.gov/literature/disease/0024732	0024732			C4225416		ubiquitin specific peptidase 9 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 99, syndromic, female-restricted"	2
Immunodeficiency 47	atp6ap1 primary immunodeficiency disease//imd47//immunodeficiency 47, x-linked recessive//immunodeficiency 47; imd47//immunodeficiency and hepatopathy with or without neurologic features//immunodeficiency type 47//primary immunodeficiency disease caused by mutation in atp6ap1	ATP6AP1	ATP6AP1	https://raresource.nih.gov/literature/disease/0024733	0024733	300972		C4310819		ATPase H+ transporting accessory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 47"	1
Intellectual disability, X-linked 103	intellectual developmental disorder, x-linked 103//intellectual developmental disorder, x-linked 103, x-linked recessive//intellectual disability, x-linked type 103//klhl15 non-syndromic x-linked intellectual disability//mental retardation, x-linked 103//mental retardation, x-linked type 103//mrx103//non-syndromic x-linked intellectual disability caused by mutation in klhl15//xlid103	KLHL15	KLHL15	https://raresource.nih.gov/literature/disease/0024734	0024734	300982		C4310818		kelch like family member 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 103"	None
Meester-Loeys syndrome	meester-loeys syndrome; mrls//mrls	BGN	BGN	https://raresource.nih.gov/literature/disease/0024735	0024735			C4310811		biglycan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meester-Loeys syndrome"	23
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	mfhien//midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, x-linked recessive//midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; mfhien	AMMECR1	AMMECR1	https://raresource.nih.gov/literature/disease/0024736	0024736	300990	688581	C4310810		AMMECR nuclear protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	None
Aarskog syndrome	aarskog disease//aarskog scott syndrome//aarskog syndrome, x-linked//aarskog-scott syndrome, x-linked//aarskog-scott syndrome, x-linked recessive//aas//fgdy//mental retardation, x-linked syndromic 16, x-linked recessive	FGD1	FGD1	https://raresource.nih.gov/literature/disease/0024738	0024738			C0175701	C535331	FYVE, RhoGEF and PH domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aarskog syndrome"	1008
Combined immunodeficiency, X-linked	cidx//combined immunodeficiency, x-linked, moderate, x-linked recessive//immunodeficiency 6	IL2RG	IL2RG	https://raresource.nih.gov/literature/disease/0024751	0024751			CN030319		interleukin 2 receptor subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency, X-linked"	None
Warburg micro syndrome 1	micro syndrome 1//rab3gap1 warburg micro syndrome//warbm1//warburg micro syndrome caused by mutation in rab3gap1//warburg micro syndrome type 1	RAB3GAP1	RAB3GAP1	https://raresource.nih.gov/literature/disease/0024758	0024758			C1838625		RAB3 GTPase activating protein catalytic subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warburg micro syndrome 1"	4
Craniosynostosis 4	craniosynostosis caused by mutation in erf//craniosynostosis type 4//erf craniosynostosis//erf-related craniosynostosis//lambdoid craniosynostosis//lambdoid suture craniosynostosis//lambdoid suture synostosis//lambdoidal craniosynostosis//parieto-occipital craniosynostosis	ERF	ERF	https://raresource.nih.gov/literature/disease/0024762	0024762			C1833340		ETS2 repressor factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis 4"	51
Hypertrophic cardiomyopathy 6	cardiomyopathy, familial hypertrophic 6//cardiomyopathy, familial hypertrophic, type 6//cardiomyopathy, hypertrophic 6//cmh6//hypertrophic cardiomyopathy caused by mutation in prkag2//hypertrophic cardiomyopathy type 6//prkag2 hypertrophic cardiomyopathy	PRKAG2	PRKAG2	https://raresource.nih.gov/literature/disease/0024763	0024763	600858		C1833236	C563436	protein kinase AMP-activated non-catalytic subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 6"	1
Cataract 10 multiple types	cataract 10, congenital zonular, with sutural opacities//cryba1 early-onset non-syndromic cataract//ctrct10//early-onset non-syndromic cataract caused by mutation in cryba1	CRYBA1	CRYBA1	https://raresource.nih.gov/literature/disease/0024764	0024764	600881		C1833229	C563435	crystallin beta A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 10 multiple types"	None
Ayme-Gripp syndrome		MAF	MAF	https://raresource.nih.gov/literature/disease/0024765	0024765			C1832812	C563390	MAF bZIP transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ayme-Gripp syndrome"	5
Brugada syndrome 1	brgda1//brugada syndrome caused by mutation in scn5a//brugada syndrome type 1//scn5a brugada syndrome//scn5a-related brugada syndrome	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0024766	0024766			C4551804		sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 1"	8
Autosomal dominant hypocalcemia 1	autosomal dominant hypocalcemia caused by mutation in casr//autosomal dominant hypocalcemia type 1//casr autosomal dominant hypocalcemia//hypoc1//hypocalcemia, autosomal dominant type 1//hypocalcemia, autosomal dominant, with bartter syndrome//hypocalcemia, familial	CASR	CASR	https://raresource.nih.gov/literature/disease/0024767	0024767			C0342345		calcium sensing receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypocalcemia 1"	32
Diabetes mellitus, noninsulin-dependent, 1	diabetes mellitus, noninsulin-dependent, type 1//t2d1	CAPN10	CAPN10	https://raresource.nih.gov/literature/disease/0024769	0024769	601283		C1832544	C563359	calpain 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, noninsulin-dependent, 1"	None
Van Maldergem syndrome 1	dchs1 van maldergem syndrome//van maldergem syndrome 1 (vmlds1)//van maldergem syndrome caused by mutation in dchs1//van maldergem syndrome type 1//vmlds1	DCHS1	DCHS1	https://raresource.nih.gov/literature/disease/0024770	0024770			C4551950		dachsous cadherin-related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van Maldergem syndrome 1"	1
Peroxisome biogenesis disorder 1B	infantile form of phytanic acid storage disease//infantile refsum disease//infantile refsum's disease//pbd1b//peroxisome biogenesis disorder 1b (nald/ird)//peroxisome biogenesis disorder type 1b//refsum disease, infantile form	PEX1	PEX1	https://raresource.nih.gov/literature/disease/0024772	0024772	601539		C0282527	D052919	peroxisomal biogenesis factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 1B"	180
Neural tube defects, folate-sensitive	ntd, folate-sensitive//ntdfs	MTR;MTRR;MTHFR;MTHFD1	MTR;MTRR;MTHFR;MTHFD1	https://raresource.nih.gov/literature/disease/0024774	0024774	601634		C1866558	C536409	5-methyltetrahydrofolate-homocysteine methyltransferase; 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; methylenetetrahydrofolate reductase; methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neural tube defects, folate-sensitive"	None
Autoimmune lymphoproliferative syndrome type 1	alps//alps - autoimmune lymphoproliferative syndrome//autoimmune lymphoproliferative syndrome, type i, autosomal dominant//autoimmune lymphoproliferative syndrome, type ia//autoimmune lymphoproliferative syndrome, type ib//fas-related autoimmune lymphoproliferative syndrome	FASLG;FAS	FASLG;FAS	https://raresource.nih.gov/literature/disease/0024776	0024776			C1328840	D056735	Fas ligand; Fas cell surface death receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome type 1"	431
Cataract 14 multiple types	cataract 14, coppock-like//cataract 14, embryonal nuclear//cataract 14, nuclear coralliform//cataract 14, nuclear pulverulent//cataract 14, nuclear pulverulent and posterior polar//cataract 14, zonular pulverulent//ctrct14//early-onset non-syndromic cataract caused by mutation in gja3//gja3 early-onset non-syndromic cataract	GJA3	GJA3	https://raresource.nih.gov/literature/disease/0024777	0024777	601885		C1866078	C566608	gap junction protein alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 14 multiple types"	None
Thrombocythemia 2	familial thrombocytosis caused by mutation in mpl//mpl familial thrombocytosis//thrombocythemia 2, autosomal dominant, somatic mutation//thrombocythemia 2, susceptibility to//thrombocythemia type 2	MPL	MPL	https://raresource.nih.gov/literature/disease/0024778	0024778	601977		C3275998		MPL proto-oncogene, thrombopoietin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocythemia 2"	None
Paget disease of bone 2, early-onset	paget disease of bone 2//pdb2	TNFRSF11A	TNFRSF11A	https://raresource.nih.gov/literature/disease/0024779	0024779	602080		C4085251		TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paget disease of bone 2, early-onset"	6
Hemochromatosis type 2A	hemochromatosis type 2 caused by mutation in hjv//hfe2a//hjv (hfe2)-related juvenile hemochromatosis//hjv hemochromatosis type 2	HJV	HJV	https://raresource.nih.gov/literature/disease/0024782	0024782	602390		C1865614		hemojuvelin BMP co-receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 2A"	None
Branchiootic syndrome 1	bo syndrome 1//bos1//branchiootic syndrome caused by mutation in eya1//branchiootic syndrome type 1//eya1 branchiootic syndrome	EYA1	EYA1	https://raresource.nih.gov/literature/disease/0024783	0024783			C1865143		EYA transcriptional coactivator and phosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiootic syndrome 1"	2
Eichsfeld type congenital muscular dystrophy	cmyo3//congenital merosin-positive muscular dystrophy with early spine rigidity//congenital myopathy 3 with rigid spine//desmin-related myopathy with mallory bodies//mdrs1//minicore myopathy, severe classic form//multicore myopathy, severe classic form//multiminicore disease, severe classic form//muscular dystrophy, congenital, eichsfeld type//muscular dystrophy, congenital, merosin-positive, with early spine rigidity//muscular dystrophy, rigid spine, 1//myopathy, sepn1-related//rigid spine muscular dystrophy 1//rigid spine muscular dystrophy type 1//rigid spine syndrome caused by mutation in selenon//rsmd1//rss//selenon rigid spine syndrome//severe classic form minicore myopathy//severe classic form multicore myopathy//severe classic form multiminicore disease	SELENON	SELENON	https://raresource.nih.gov/literature/disease/0024786	0024786	602771		C0410180		selenoprotein N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Eichsfeld type congenital muscular dystrophy"	223
Mitochondrial DNA depletion syndrome 1	mitochondrial dna depletion syndrome 1 (mngie type)//mitochondrial dna depletion syndrome type 1//mitochondrial dna depletion syndrome, mngie form//mitochondrial neurogastrointestinal encephalopathy disease//mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related//mngie, tymp-related//polip syndrome//polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction	TYMP	TYMP	https://raresource.nih.gov/literature/disease/0024787	0024787	603041		C4551995		thymidine phosphorylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 1"	7
Age related macular degeneration 1	age related macular degeneration type 1//age related maculopathy 1//armd1//macular degeneration, age-related, reduced risk of//macular degeneration, age-related, type 1//maculopathy, age-related, 1	CFHR3;HMCN1;CFHR1	CFHR3;HMCN1;CFHR1	https://raresource.nih.gov/literature/disease/0024788	0024788	603075		C1864205	C566411	complement factor H related 3; hemicentin 1; complement factor H related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 1"	None
Citrullinemia, type II, adult-onset	cdaa//citrin deficiency, adolescent or adult onset//citrullinemia, adult-onset type ii	SLC25A13	SLC25A13	https://raresource.nih.gov/literature/disease/0024789	0024789			CN295299		solute carrier family 25 member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Citrullinemia, type II, adult-onset"	4
Hypercholesterolemia, autosomal dominant, 3	familial hypercholesterolemia 3//familial hypercholesterolemia caused by mutation in pcsk9//familial hypercholesterolemia, autosomal dominant, 3//fhcl3//hypercholesterolemia, autosomal dominant, type 3//hypercholesterolemia, familial, 3//low density lipoprotein cholesterol level qtl 1//pcsk9 familial hypercholesterolemia//pcsk9-related familial hypercholesterolemia, autosomal dominant	PCSK9	PCSK9	https://raresource.nih.gov/literature/disease/0024793	0024793	603776		C1863551	C566337	proprotein convertase subtilisin/kexin type 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholesterolemia, autosomal dominant, 3"	None
Ventricular fibrillation, paroxysmal familial, type 1	ventricular fibrillation, familial, 1//ventricular fibrillation, paroxysmal familial, 1//vf1	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0024795	0024795			C2751898	C567851	sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ventricular fibrillation, paroxysmal familial, type 1"	None
Hypoalphalipoproteinemia, primary, 1	abca1-associated familial high density lipoprotein deficiency//abca1-related familial high density lipoprotein deficiency//hdl deficiency, familial, 1//hypoalphalipoproteinemia, familial	ABCA1	ABCA1	https://raresource.nih.gov/literature/disease/0024796	0024796	604091		C5231558		ATP binding cassette subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoalphalipoproteinemia, primary, 1"	None
Left ventricular noncompaction 1	dtna left ventricular noncompaction//left ventricular noncompaction 1 with or without congenital heart defects//left ventricular noncompaction 1, with or without congenital heart defects//left ventricular noncompaction caused by mutation in dtna//left ventricular noncompaction type 1//lvnc1	DTNA	DTNA	https://raresource.nih.gov/literature/disease/0024797	0024797			C1858725		dystrobrevin alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Left ventricular noncompaction 1"	None
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3//ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3//ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (eec3)//ectrodactyly, ectodermal dysplasia, clefting syndrome//ectrodactyly, ectodermal dysplasia, clefting syndrome type 3 (eec3)//eec syndrome 3//eec syndrome caused by mutation in tp63//eec3//tp63 eec syndrome	TP63	TP63	https://raresource.nih.gov/literature/disease/0024798	0024798			C1858562	C565799	tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"	70
Arrhythmogenic right ventricular dysplasia 5	arrhythmogenic right ventricular cardiomyopathy 5//arrhythmogenic right ventricular cardiomyopathy caused by mutation in tmem43//arrhythmogenic right ventricular dysplasia type 5//arrhythmogenic right ventricular dysplasia, familial, 5//arrhythmogenic right ventricular dysplasia, familial, type 5//arrhythmogenic right ventricular dysplasia/cardiomyopathy 5//arvc5//arvd5//familial arrhythmogenic right ventricular dysplasia 5//tmem43 arrhythmogenic right ventricular cardiomyopathy	TMEM43	TMEM43	https://raresource.nih.gov/literature/disease/0024800	0024800	604400		C1858379	C565776	transmembrane protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 5"	9
Catecholaminergic polymorphic ventricular tachycardia 1	arrhythmogenic right ventricular cardiomyopathy 2//arrhythmogenic right ventricular dysplasia 2//arrhythmogenic right ventricular dysplasia type 2//arrhythmogenic right ventricular dysplasia, familial, type 2//arvc2//arvd2//catecholaminergic polymorphic ventricular tachycardia type 1//cvpt1//familial arrhythmogenic right ventricular dysplasia 2//familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in ryr2//ryr2 familial isolated arrhythmogenic right ventricular dysplasia//ryr2-related catecholaminergic polymorphic ventricular tachycardia//ventricular tachycardia, catecholaminergic polymorphic, 1//ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy//ventricular tachycardia, stress-induced polymorphic 1	TRDN;CASQ2;RYR2	TRDN;CASQ2;RYR2	https://raresource.nih.gov/literature/disease/0024803	0024803			C1631597	C563409	triadin; calsequestrin 2; ryanodine receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia 1"	26
Lymphoma, non-Hodgkin, familial	lymphoma, follicular, somatic//lymphoma, non-hodgkin//lymphoma, non-hodgkin, somatic	RAD54L;BCL10;RAD54B;PRF1;CASP10	RAD54L;BCL10;RAD54B;PRF1;CASP10	https://raresource.nih.gov/literature/disease/0024804	0024804	605027		C4721532		RAD54 like; BCL10 immune signaling adaptor; RAD54 homolog B; perforin 1; caspase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphoma, non-Hodgkin, familial"	5
Heterotaxy, visceral, 2, autosomal	cfc1-related visceral heterotaxy//dtga2//htx2//transposition of the great arteries, dextro-looped 2	CFC1	CFC1	https://raresource.nih.gov/literature/disease/0024805	0024805	605376		C1415817		cryptic, EGF-CFC family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 2, autosomal"	None
Hypotrichosis 1	apcdd1 hypotrichosis//hereditary hypotrichosis simplex//hereditary generalised hypotrichosis simplex//hereditary generalized hypotrichosis simplex//hts//hypotrichosis caused by mutation in apcdd1//hypotrichosis simplex, generalized, hereditary//hypotrichosis type 1//hypt1	APCDD1	APCDD1	https://raresource.nih.gov/literature/disease/0024806	0024806			C4551976		APC down-regulated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 1"	281
Myopathy, proximal, and ophthalmoplegia	cmyo6//congenital myopathy 6 with ophthalmoplegia//inclusion body myopathy 3, autosomal dominant//myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles//proximal myopathy and ophthalmoplegia	MYH2	MYH2	https://raresource.nih.gov/literature/disease/0024809	0024809	605637		C1854106	C565311	myosin heavy chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, proximal, and ophthalmoplegia"	None
Cerebral amyloid angiopathy, APP-related	amyloidosis, cerebroarterial, app-related//cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants//hchwad	APP	APP	https://raresource.nih.gov/literature/disease/0024810	0024810	605714		C2751536		amyloid beta precursor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral amyloid angiopathy, APP-related"	None
Muscular dystrophy-dystroglycanopathy type B5	congenital muscular dystrophy 1c//congenital muscular dystrophy-fkrp related//fkrp-related congenital muscular dystrophy//fkrp-related muscle diseases//mdc1c//mddgb5//muscular dystrophy, congenital, 1c//muscular dystrophy, congenital, fkrp-related//muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5//muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type b, 5//muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5	FKRP	FKRP	https://raresource.nih.gov/literature/disease/0024818	0024818	606612		C1847759	C564691	fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy type B5"	27
Spongiform encephalopathy with neuropsychiatric features		PRNP	PRNP	https://raresource.nih.gov/literature/disease/0024819	0024819	606688		C1847650	C564678	prion protein (Kanno blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spongiform encephalopathy with neuropsychiatric features"	None
Lymphangiomyomatosis	lam//lymphangioleiomyomatosis//lymphangioleiomyomatosis, somatic//tsc1-related lymphangioleiomyomatosis	TSC2;TSC1	TSC2;TSC1	https://raresource.nih.gov/literature/disease/0024820	0024820			C0751674	D018192	TSC complex subunit 2; TSC complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphangiomyomatosis"	1998
Nephronophthisis 4	juvenile nephronophthisis 4//nephronophthisis (disease) caused by mutation in nphp4//nephronophthisis 4, juvenile//nephronophthisis type 4//nphp4//nphp4 nephronophthisis (disease)	NPHP4	NPHP4	https://raresource.nih.gov/literature/disease/0024821	0024821	606966		C1847013	C564640	nephrocystin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 4"	8
Arrhythmogenic right ventricular dysplasia 8	arrhythmogenic right ventricular cardiomyopathy 8//arrhythmogenic right ventricular cardiomyopathy caused by mutation in dsp//arrhythmogenic right ventricular dysplasia type 8//arrhythmogenic right ventricular dysplasia, familial, 8//arrhythmogenic right ventricular dysplasia, familial, type 8//arrhythmogenic right ventricular dysplasia/cardiomyopathy 8//arvc8//arvd8//dsp arrhythmogenic right ventricular cardiomyopathy//familial arrhythmogenic right ventricular dysplasia 8	DSP	DSP	https://raresource.nih.gov/literature/disease/0024825	0024825	607450		C1843896	C564400	desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 8"	None
Newfoundland cone-rod dystrophy	cone-rod dystrophy caused by mutation in rlbp1//nfrcd//rlbp1 cone-rod dystrophy	RLBP1	RLBP1	https://raresource.nih.gov/literature/disease/0024826	0024826	607476		C1843815	C564391	retinaldehyde binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Newfoundland cone-rod dystrophy"	3
Hypertrophic cardiomyopathy 25	cardiomyopathy familial hypertrophic 25//cardiomyopathy, familial hypertrophic, 25//cardiomyopathy, familial hypertrophic, type 25//cardiomyopathy, hypertrophic, 25//cmh25//hypertrophic cardiomyopathy caused by mutation in tcap//hypertrophic cardiomyopathy type 25//tcap hypertrophic cardiomyopathy//tcap-related dilated cardiomyopathy	TCAP	TCAP	https://raresource.nih.gov/literature/disease/0024827	0024827	607487		C4225408	C564388	titin-cap	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 25"	None
Nonsyndromic congenital nail disorder 8	col7a1 inherited isolated nail anomaly//inherited isolated nail anomaly caused by mutation in col7a1//nail disorder, nonsyndromic congenital, type 8//nonsyndromic congenital nail disorder type 8//toenail dystrophy, isolated	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0024828	0024828			C1843761	C564384	collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nonsyndromic congenital nail disorder 8"	None
Immunodeficiency, common variable, 1	antibody deficiency due to icos defect//immunodeficiency, common variable, type 1	ICOS	ICOS	https://raresource.nih.gov/literature/disease/0024829	0024829	607594		C3149378		inducible T cell costimulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 1"	None
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	charcot-marie-tooth disease, type 4a, axonal form//charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive//cmt2 with vocal cord paresis, autosomal recessive	GDAP1	GDAP1	https://raresource.nih.gov/literature/disease/0024831	0024831	607706		C1843183		ganglioside induced differentiation associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive"	None
Atrial septal defect 2	asd2//atrial heart septal defect caused by mutation in gata4//atrial heart septal defect type 2//atrial septal defect type 2//gata4 atrial heart septal defect	GATA4	GATA4	https://raresource.nih.gov/literature/disease/0024832	0024832	607941		C1842778	C538263	GATA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 2"	12
Platelet-type bleeding disorder 10	bdplt10//cd36 deficiency//cd36 inherited bleeding disorder, platelet-type//inherited bleeding disorder, platelet-type caused by mutation in cd36//platelet glycoprotein iv deficiency	CD36	CD36	https://raresource.nih.gov/literature/disease/0024837	0024837	608404		C1842090	C564245	CD36 molecule (CD36 blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platelet-type bleeding disorder 10"	181
Hypertrophic cardiomyopathy 8	cardiomyopathy hypertrophic mid-left ventricular chamber type 1//cardiomyopathy, familial hypertrophic, 8//cardiomyopathy, familial hypertrophic, type 8//cardiomyopathy, hypertrophic, 8//cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1//hypertrophic cardiomyopathy caused by mutation in myl3//hypertrophic cardiomyopathy type 8//myl3 hypertrophic cardiomyopathy//myl3-related familial hypertrophic cardiomyopathy	MYL3	MYL3	https://raresource.nih.gov/literature/disease/0024842	0024842	608751		C1837471	C563866	myosin light chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 8"	None
Hypertrophic cardiomyopathy 10	cardiomyopathy, familial hypertrophic, 10//cardiomyopathy, familial hypertrophic, type 10//cardiomyopathy, hypertrophic, 10//cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2//cmh10//hypertrophic cardiomyopathy caused by mutation in myl2//hypertrophic cardiomyopathy type 10//myl2 hypertrophic cardiomyopathy//myl2-related familial hypertrophic cardiomyopathy	MYL2	MYL2	https://raresource.nih.gov/literature/disease/0024843	0024843	608758		C1834460	C563865	myosin light chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 10"	None
Muscular dystrophy-dystroglycanopathy type B6	congenital muscular dystrophy large-related//congenital muscular dystrophy type 1d//large-related muscle diseases//mdc1d//mddgb6//muscular dystrophy, congenital, large-related//muscular dystrophy, congenital, type 1d//muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6//muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type b, 6//muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6	LARGE1	LARGE1	https://raresource.nih.gov/literature/disease/0024846	0024846	608840		C1837229	C563844	LARGE xylosyl- and glucuronyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy type B6"	15
Macular degeneration, age-related, 3	age-related macular degeneration caused by mutation in fbln5//armd3//fbln5 age-related macular degeneration//macular degeneration, age-related, type 3	FBLN5	FBLN5	https://raresource.nih.gov/literature/disease/0024848	0024848	608895		C1837187	C563838	fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular degeneration, age-related, 3"	None
Autosomal dominant sensory ataxia 1	adsa//hereditary ataxia caused by mutation in rnf170//rnf170 hereditary ataxia//snax1	RNF170	RNF170	https://raresource.nih.gov/literature/disease/0024850	0024850	608984		C1837015		ring finger protein 170	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant sensory ataxia 1"	5
Premature ovarian failure 3	pof3//premature ovarian failure type 3	FOXL2	FOXL2	https://raresource.nih.gov/literature/disease/0024851	0024851	608996		C1837008	C563816	forkhead box L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 3"	None
Arrhythmogenic right ventricular dysplasia 9	arrhythmogenic right ventricular cardiomyopathy 9//arrhythmogenic right ventricular dysplasia type 9//arrhythmogenic right ventricular dysplasia, familial, 9//arrhythmogenic right ventricular dysplasia, familial, type 9//arrhythmogenic right ventricular dysplasia/cardiomyopathy 9//arvc9//arvd9//familial arrhythmogenic right ventricular dysplasia 9//familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in pkp2//pkp2 familial isolated arrhythmogenic right ventricular dysplasia	PKP2	PKP2	https://raresource.nih.gov/literature/disease/0024852	0024852	609040		C1836906	C563808	plakophilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 9"	None
Autosomal dominant striatal neurodegeneration type 1	adsd1//pde8b striatal degeneration, autosomal dominant//striatal degeneration, autosomal dominant 1//striatal degeneration, autosomal dominant caused by mutation in pde8b	PDE8B	PDE8B	https://raresource.nih.gov/literature/disease/0024853	0024853			C4310808		phosphodiesterase 8B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant striatal neurodegeneration type 1"	None
Holoprosencephaly 5	holoprosencephaly caused by mutation in zic2//holoprosencephaly type 5//hpe5//zic2 holoprosencephaly	ZIC2	ZIC2	https://raresource.nih.gov/literature/disease/0024860	0024860	609637		C1864827	C566464	Zic family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 5"	None
Cataract 22 multiple types	cataract 22//cataract 22, multiple types, autosomal dominant//cataract 22, nuclear, autosomal recessive//crybb3 early-onset non-syndromic cataract//ctrct22//early-onset non-syndromic cataract caused by mutation in crybb3	CRYBB3	CRYBB3	https://raresource.nih.gov/literature/disease/0024861	0024861	609741		C1857853	C565725	crystallin beta B3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 22 multiple types"	1
Isolated microphthalmia 2	isolated microphthalmia caused by mutation in vsx2//isolated microphthalmia type 2//mcop2//microphthalmia, isolated type 2//vsx2 isolated microphthalmia	VSX2	VSX2	https://raresource.nih.gov/literature/disease/0024863	0024863	610093		C1864720	C566446	visual system homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 2"	None
Age related macular degeneration 7	age related macular degeneration type 7//age-related macular degeneration caused by mutation in htra1//armd7//htra1 age-related macular degeneration//macular degeneration, age-related, neovascular type//macular degeneration, age-related, type 7	HTRA1	HTRA1	https://raresource.nih.gov/literature/disease/0024864	0024864	610149		C1857813	C565718	HtrA serine peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 7"	None
Arrhythmogenic right ventricular dysplasia 10	arrhythmogenic right ventricular cardiomyopathy 10//arrhythmogenic right ventricular cardiomyopathy caused by mutation in dsg2//arrhythmogenic right ventricular dysplasia type 10//arrhythmogenic right ventricular dysplasia, familial, 10//arrhythmogenic right ventricular dysplasia, familial, type 10//arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10//arrhythmogenic right ventricular dysplasia/cardiomyopathy10//arvc10//arvd10//dsg2 arrhythmogenic right ventricular cardiomyopathy//familial arrhythmogenic right ventricular dysplasia 10	DSG2	DSG2	https://raresource.nih.gov/literature/disease/0024865	0024865	610193		C1857777	C565707	desmoglein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 10"	None
Cataract 21 multiple types	cataract 21 multiple types with or without microcornea//cataract 21, cerulean, with or without microcornea//cataract 21, multiple types, with microcornea//cataract 21, multiple types, with or without microcornea//cataract, congenital, cerulean type, 4//ctrct21//early-onset non-syndromic cataract caused by mutation in maf//maf early-onset non-syndromic cataract	MAF	MAF	https://raresource.nih.gov/literature/disease/0024866	0024866	610202		C1857768	C565703	MAF bZIP transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 21 multiple types"	None
Hereditary spastic paraplegia 33	autosomal dominant spastic paraplegia 33//hereditary spastic paraplegia caused by mutation in zfyve27//hereditary spastic paraplegia type 33//spastic paraplegia 33//spastic paraplegia 33, autosomal dominant//spg33//zfyve27 hereditary spastic paraplegia	ZFYVE27	ZFYVE27	https://raresource.nih.gov/literature/disease/0024867	0024867	610244		C1853251	C565214	zinc finger FYVE-type containing 27	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spastic paraplegia 33"	1
Cataract 23	cataract 23, lamellar//cataract 23, multiple types//cataract type 23//cryba4 early-onset non-syndromic cataract//ctrct23//early-onset non-syndromic cataract caused by mutation in cryba4//lamellar cataract 23	CRYBA4	CRYBA4	https://raresource.nih.gov/literature/disease/0024869	0024869	610425		C3808012		crystallin beta A4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 23"	None
Arrhythmogenic right ventricular dysplasia 11	arrhythmogenic right ventricular cardiomyopathy 11//arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair//arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair//arrhythmogenic right ventricular dysplasia type 11//arrhythmogenic right ventricular dysplasia, familial, 11//arrhythmogenic right ventricular dysplasia, familial, type 11//arrhythmogenic right ventricular dysplasia/cardiomyopathy11//arvc11//arvd11//dsc2 familial isolated arrhythmogenic right ventricular dysplasia//familial arrhythmogenic right ventricular dysplasia 11//familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in dsc2	DSC2	DSC2	https://raresource.nih.gov/literature/disease/0024870	0024870	610476		C1864850	C566471	desmocollin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 11"	None
Corticosterone methyloxidase type 2 deficiency	18-oxidase deficiency//aldosterone deficiency due to deficiency of steroid 18-oxidase//aldosterone deficiency ii//cmo ii deficiency//corticosterone methyloxidase type ii deficiency//hypoaldosteronism, congenital, due to cmo ii deficiency//steroid 18-oxidase deficiency	CYP11B2	CYP11B2	https://raresource.nih.gov/literature/disease/0024871	0024871	610600		C3463917		cytochrome P450 family 11 subfamily B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corticosterone methyloxidase type 2 deficiency"	13
Age related macular degeneration 4	age related macular degeneration type 4//age-related macular degeneration caused by mutation in cfh//armd4//cfh age-related macular degeneration//macular degeneration, age-related, type 4	CFH	CFH	https://raresource.nih.gov/literature/disease/0024872	0024872	610698		C1853147	C565196	complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 4"	None
Congenital anomalies of kidney and urinary tract 1	cakut1//congenital anomalies of kidney and urinary tract 1, susceptibility to//congenital anomaly of kidney and urinary tract caused by mutation in dstyk//dstyk congenital anomaly of kidney and urinary tract//renal hypodysplasia, nonsyndromic, 1	DSTYK	DSTYK	https://raresource.nih.gov/literature/disease/0024873	0024873	610805		C1835826	C563661	dual serine/threonine and tyrosine protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital anomalies of kidney and urinary tract 1"	None
Holoprosencephaly 7	holoprosencephaly caused by mutation in ptch1//holoprosencephaly type 7//hpe7//ptch1 holoprosencephaly	PTCH1	PTCH1	https://raresource.nih.gov/literature/disease/0024874	0024874	610828		C1835820	C563660	patched 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 7"	1
Holoprosencephaly 9	gli2 holoprosencephaly//holoprosencephaly caused by mutation in gli2//holoprosencephaly type 9//holoprosencephaly with microphthalmia and first branchial arch anomalies//hpe9//pituitary anomalies with holoprosencephaly-like features	GLI2	GLI2	https://raresource.nih.gov/literature/disease/0024875	0024875	610829		C1835819		GLI family zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 9"	None
Isolated microphthalmia 3	isolated microphthalmia caused by mutation in rax//isolated microphthalmia type 3//mcop3//mcops16//microphthalmia, isolated type 3//microphthalmia, syndromic 16//rax isolated microphthalmia//rax-related anophthalmia/microphthalmia	RAX	RAX	https://raresource.nih.gov/literature/disease/0024876	0024876	611038		C5774181	C567025	retina and anterior neural fold homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 3"	None
Age related macular degeneration 9	age related macular degeneration type 9//age-related macular degeneration caused by mutation in c3//armd9//c3 age-related macular degeneration//macular degeneration, age-related, type 9	C3	C3	https://raresource.nih.gov/literature/disease/0024877	0024877	611378		C1969651	C566958	complement C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 9"	None
Nephronophthisis 7	glis2 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in glis2//nephronophthisis type 7//nphp7	GLIS2	GLIS2	https://raresource.nih.gov/literature/disease/0024879	0024879	611498		C1969092	C566930	GLIS family zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 7"	3
Arrhythmogenic right ventricular dysplasia 12	arrhythmogenic right ventricular cardiomyopathy 12//arrhythmogenic right ventricular dysplasia type 12//arrhythmogenic right ventricular dysplasia, familial, 12//arrhythmogenic right ventricular dysplasia, familial, type 12//arvc12//arvd12//familial arrhythmogenic right ventricular dysplasia 12//familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in jup//jup familial isolated arrhythmogenic right ventricular dysplasia	JUP	JUP	https://raresource.nih.gov/literature/disease/0024880	0024880	611528		C1969081	C566925	junction plakoglobin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia 12"	None
Cataract 17 multiple types	cataract 17, congenital nuclear, autosomal recessive//cataract 17, pulverulent//crybb1 early-onset non-syndromic cataract//ctrct17//early-onset non-syndromic cataract caused by mutation in crybb1	CRYBB1	CRYBB1	https://raresource.nih.gov/literature/disease/0024881	0024881	611544		C3888124	C566923	crystallin beta B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 17 multiple types"	None
Premature ovarian failure 5	nobox primary ovarian failure//pof5//premature ovarian failure type 5//primary ovarian failure caused by mutation in nobox	NOBOX	NOBOX	https://raresource.nih.gov/literature/disease/0024882	0024882	611548		C1969060	C566921	NOBOX oogenesis homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 5"	None
Renal hypomagnesemia 4	egf familial primary hypomagnesemia//egf primary hypomagnesemia//familial primary hypomagnesemia caused by mutation in egf//homg4//hypomagnesemia, renal, normocalciuric//primary hypomagnesemia caused by mutation in egf//renal hypomagnesemia type 4	EGF	EGF	https://raresource.nih.gov/literature/disease/0024886	0024886	611718		C2673648	C567127	epidermal growth factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypomagnesemia 4"	None
Age related macular degeneration 11	age related macular degeneration type 11//age-related macular degeneration caused by mutation in cst3//armd11//cst3 age-related macular degeneration//macular degeneration, age-related, type 11	CST3	CST3	https://raresource.nih.gov/literature/disease/0024887	0024887	611953		C2677774	C567450	cystatin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 11"	None
Hypertrophic cardiomyopathy 11	actc1 hypertrophic cardiomyopathy//actc1-related familial hypertrophic cardiomyopathy//cardiomyopathy familial hypertrophic 11//cardiomyopathy, familial hypertrophic, type 11//cardiomyopathy, hypertrophic, 11//cmh11//hypertrophic cardiomyopathy caused by mutation in actc1//hypertrophic cardiomyopathy type 11	ACTC1	ACTC1	https://raresource.nih.gov/literature/disease/0024889	0024889	612098		C2677506	C567419	actin alpha cardiac muscle 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 11"	None
Hypertrophic cardiomyopathy 12	cardiomyopathy familial hypertrophic 12//cardiomyopathy, familial hypertrophic, type 12//cardiomyopathy, hypertrophic, 12//cmh12//csrp3 hypertrophic cardiomyopathy//hypertrophic cardiomyopathy caused by mutation in csrp3//hypertrophic cardiomyopathy type 12	CSRP3	CSRP3	https://raresource.nih.gov/literature/disease/0024890	0024890	612124		C2677491		cysteine and glycine rich protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 12"	None
Premature ovarian failure 6	figla primary ovarian failure//pof6//premature ovarian failure type 6//primary ovarian failure caused by mutation in figla	FIGLA	FIGLA	https://raresource.nih.gov/literature/disease/0024891	0024891	612310		C2676742	C567351	folliculogenesis specific bHLH transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 6"	None
Intellectual disability, autosomal dominant 22	autosomal dominant intellectual disability 22//autosomal dominant mental retardation 22//autosomal dominant non-syndromic intellectual disability caused by mutation in zbtb18//intellectual developmental disorder, autosomal dominant 22//intellectual disability, autosomal dominant type 22//mental retardation, autosomal dominant type 22//mrd22//zbtb18 autosomal dominant non-syndromic intellectual disability	ZBTB18	ZBTB18	https://raresource.nih.gov/literature/disease/0024892	0024892	612337		CN029689	C567346	zinc finger and BTB domain containing 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 22"	1
Heparin cofactor II deficiency	hcf ii deficiency//hcf2 deficiency//heparin cofactor 2 deficiency//thrombophilia 10 due to heparin cofactor ii deficiency//thrombophilia due to heparin cofactor ii deficiency	SERPIND1	SERPIND1	https://raresource.nih.gov/literature/disease/0024895	0024895	612356		C0398626	C562865	serpin family D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heparin cofactor II deficiency"	23
Atrial septal defect 5	actc1 atrial heart septal defect//asd5//atrial heart septal defect caused by mutation in actc1//atrial heart septal defect type 5//atrial septal defect type 5	ACTC1	ACTC1	https://raresource.nih.gov/literature/disease/0024898	0024898	612794		C2748552	C567561	actin alpha cardiac muscle 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 5"	None
Premature ovarian failure 7	nr5a1 primary ovarian failure//pof7//premature ovarian failure type 7//primary ovarian failure caused by mutation in nr5a1	NR5A1	NR5A1	https://raresource.nih.gov/literature/disease/0024899	0024899	612964		C2751825	C567838	nuclear receptor subfamily 5 group A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 7"	None
Atrial septal defect 6	asd6//atrial heart septal defect caused by mutation in tll1//atrial heart septal defect type 6//atrial septal defect type 6//tll1 atrial heart septal defect	TLL1	TLL1	https://raresource.nih.gov/literature/disease/0024900	0024900	613087		C2751315	C567764	tolloid like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 6"	1
Isolated microphthalmia 4	gdf6 isolated microphthalmia//isolated microphthalmia caused by mutation in gdf6//isolated microphthalmia type 4//mcop4//microphthalmia, isolated type 4	GDF6	GDF6	https://raresource.nih.gov/literature/disease/0024901	0024901	613094		C2751307	C567757	growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 4"	None
Glaucoma 1, open angle, O	glaucoma 1, open angle, 1o//glaucoma 1, open angle, type o//glc1o//ntf4 open-angle glaucoma//open-angle glaucoma caused by mutation in ntf4	NTF4	NTF4	https://raresource.nih.gov/literature/disease/0024902	0024902	613100		C2751294	C567753	neurotrophin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 1, open angle, O"	None
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	congenital muscular dystrophy-pomt1 related//mddgb1//muscular dystrophy, congenital, pomt1-related//muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1	POMT1	POMT1	https://raresource.nih.gov/literature/disease/0024904	0024904	613155		C5436962		protein O-mannosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1"	None
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	congenital muscular dystrophy-dystroglycanopathy with intellectual disability type b2//congenital muscular dystrophy-dystroglycanopathy with mental retardation type b2//congenital muscular dystrophy-pomt2 related//mddgb2//muscular dystrophy, congenital, pomt2-related//muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2	POMT2	POMT2	https://raresource.nih.gov/literature/disease/0024905	0024905	613156		C3150416		protein O-mannosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2"	None
Hypertrophic cardiomyopathy 13	cardiomyopathy familial hypertrophic 13//cardiomyopathy, familial hypertrophic, type 13//cardiomyopathy, hypertrophic, 13//cmh13//hypertrophic cardiomyopathy caused by mutation in tnnc1//hypertrophic cardiomyopathy type 13//tnnc1 hypertrophic cardiomyopathy//tnnc1-related familial hypertrophic cardiomyopathy	TNNC1	TNNC1	https://raresource.nih.gov/literature/disease/0024906	0024906	613243		C2750472	C567686	troponin C1, slow skeletal and cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 13"	None
Hypertrophic cardiomyopathy 14	cardiomyopathy familial hypertrophic 14//cardiomyopathy, familial hypertrophic, type 14//cardiomyopathy, hypertrophic, 14//cmh14//hypertrophic cardiomyopathy caused by mutation in myh6//hypertrophic cardiomyopathy type 14//myh6 hypertrophic cardiomyopathy	MYH6	MYH6	https://raresource.nih.gov/literature/disease/0024907	0024907	613251		C2750467	C567684	myosin heavy chain 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 14"	None
Hypertrophic cardiomyopathy 15	cardiomyopathy familial hypertrophic 15//cardiomyopathy, familial hypertrophic, type 15//cardiomyopathy, hypertrophic, 15//cmh15//hypertrophic cardiomyopathy caused by mutation in vcl//hypertrophic cardiomyopathy type 15//vcl hypertrophic cardiomyopathy	VCL	VCL	https://raresource.nih.gov/literature/disease/0024908	0024908	613255		C2750459	C567681	vinculin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 15"	None
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	autosomal dominant mental retardation 20//autosomal dominant non-syndromic intellectual disability caused by mutation in mef2c//intellectual disability, autosomal dominant 20//intellectual disability, autosomal dominant type 20//mef2c autosomal dominant non-syndromic intellectual disability//mef2c deficiency//mef2c haploinsufficiency syndrome (mchs)//mef2c-related neurodevelopmental disorder//mef2c-related syndrome//mental retardation, autosomal dominant 20//mental retardation, autosomal dominant type 20//mrd20	MEF2C	MEF2C	https://raresource.nih.gov/literature/disease/0024910	0024910	613443	664410	C3150700		myocyte enhancer factor 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"	9
Mitochondrial DNA depletion syndrome 4b	mitochondrial dna depletion syndrome type 4b//mitochondrial neurogastrointestinal encephalopathy disease, polg-related//mngie, polg-related	POLG	POLG	https://raresource.nih.gov/literature/disease/0024915	0024915	613662		C3150914		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 4b"	None
Hypertrophic cardiomyopathy 7	cardiomyopathy, familial hypertrophic 7//cardiomyopathy, familial hypertrophic, 7, modifier of//cardiomyopathy, familial hypertrophic, type 7//cardiomyopathy, hypertrophic, 7//cmh7//familial hypertrophic cardiomyopathy 7//hypertrophic cardiomyopathy caused by mutation in tnni3//hypertrophic cardiomyopathy type 7//tnni3 hypertrophic cardiomyopathy//tnni3-related familial hypertrophic cardiomyopathy	TNNI3	TNNI3	https://raresource.nih.gov/literature/disease/0024916	0024916	613690		C1860752		troponin I3, cardiac type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 7"	None
Isolated microphthalmia 7	gdf3 isolated microphthalmia//isolated microphthalmia caused by mutation in gdf3//isolated microphthalmia type 7//mcop7//microphthalmia, isolated type 7	GDF3	GDF3	https://raresource.nih.gov/literature/disease/0024917	0024917	613704		C3150969		growth differentiation factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 7"	None
Heterotaxy, visceral, 4, autosomal	acvr2b visceral heterotaxy//acvr2b-related visceral heterotaxy//htx4//visceral heterotaxy caused by mutation in acvr2b	ACVR2B	ACVR2B	https://raresource.nih.gov/literature/disease/0024918	0024918	613751		C3151057		activin A receptor type 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 4, autosomal"	None
Age related macular degeneration 6	age related macular degeneration type 6//age-related macular degeneration caused by mutation in rax2//armd6//macular degeneration, age-related, type 6//rax2 age-related macular degeneration	RAX2	RAX2	https://raresource.nih.gov/literature/disease/0024919	0024919	613757		C3151060	C563674	retina and anterior neural fold homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 6"	None
Cataract 16 multiple types	cataract 16, congenital lamellar//cataract 16, posterior polar//cataract, congenital lamellar//cryab early-onset non-syndromic cataract//ctrct16//early-onset non-syndromic cataract caused by mutation in cryab	CRYAB	CRYAB	https://raresource.nih.gov/literature/disease/0024920	0024920	613763		C3808377	C565134	crystallin alpha B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 16 multiple types"	None
Hypertrophic cardiomyopathy 9	cardiomyopathy, familial hypertrophic, 9//cardiomyopathy, familial hypertrophic, type 9//cmh9//familial hypertrophic cardiomyopathy 9//hypertrophic cardiomyopathy caused by mutation in ttn//hypertrophic cardiomyopathy type 9//ttn hypertrophic cardiomyopathy	TTN	TTN	https://raresource.nih.gov/literature/disease/0024921	0024921	613765		C1861065	C566044	titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 9"	None
Age related macular degeneration 8	age related macular degeneration type 8//age-related macular degeneration caused by mutation in arms2//armd8//arms2 age-related macular degeneration//macular degeneration, age-related, type 8	ARMS2	ARMS2	https://raresource.nih.gov/literature/disease/0024923	0024923	613778		C3151070		age-related maculopathy susceptibility 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 8"	None
Age related macular degeneration 12	age related macular degeneration type 12//age-related macular degeneration caused by mutation in cx3cr1//armd12//cx3cr1 age-related macular degeneration//macular degeneration, age-related, type 12	CX3CR1	CX3CR1	https://raresource.nih.gov/literature/disease/0024924	0024924	613784		C3151079		C-X3-C motif chemokine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 12"	None
Nephronophthisis 12	nephronophthisis (disease) caused by mutation in ttc21b//nephronophthisis type 12//nphp12//ttc21b nephronophthisis (disease)//ttc21b-related joubert syndrome	TTC21B	TTC21B	https://raresource.nih.gov/literature/disease/0024925	0024925	613820		C3151186		tetratricopeptide repeat domain 21B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 12"	7
Nephronophthisis 9	nek8 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in nek8//nephronophthisis type 9//nphp9	NEK8	NEK8	https://raresource.nih.gov/literature/disease/0024926	0024926	613824		C3151188		NIMA related kinase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 9"	4
Hypertrophic cardiomyopathy 16	cardiomyopathy familial hypertrophic 16//cardiomyopathy, familial hypertrophic, type 16//cardiomyopathy, hypertrophic, 16//cmh16//hypertrophic cardiomyopathy caused by mutation in myoz2//hypertrophic cardiomyopathy type 16//myoz2 hypertrophic cardiomyopathy	MYOZ2	MYOZ2	https://raresource.nih.gov/literature/disease/0024927	0024927	613838		C3151204		myozenin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 16"	None
Congenital heart defects, multiple types, 6	chtd6//dextro-looped transposition of the great arteries 3//dextro-looped transposition of the great arteries caused by mutation in gdf1//dextro-looped transposition of the great arteries type 3//dtga3//gdf1 dextro-looped transposition of the great arteries//transposition of the great arteries, dextro-looped type 3	GDF1	GDF1	https://raresource.nih.gov/literature/disease/0024928	0024928	613854		C3151221		growth differentiation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital heart defects, multiple types, 6"	None
Hypertrophic cardiomyopathy 17	cardiomyopathy familial hypertrophic 17//cardiomyopathy, familial hypertrophic, type 17//cardiomyopathy, hypertrophic, 17//cmh17//hypertrophic cardiomyopathy caused by mutation in jph2//hypertrophic cardiomyopathy type 17//jph2 hypertrophic cardiomyopathy	JPH2	JPH2	https://raresource.nih.gov/literature/disease/0024929	0024929	613873		C3151264		junctophilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 17"	None
Hypertrophic cardiomyopathy 18	cardiomyopathy familial hypertrophic 18//cardiomyopathy, familial hypertrophic, type 18//cardiomyopathy, hypertrophic, 18//cmh18//hypertrophic cardiomyopathy caused by mutation in pln//hypertrophic cardiomyopathy type 18//pln hypertrophic cardiomyopathy	PLN	PLN	https://raresource.nih.gov/literature/disease/0024930	0024930	613874		C3151265		phospholamban	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 18"	None
Hypertrophic cardiomyopathy 20	cardiomyopathy familial hypertrophic 20//cardiomyopathy, familial hypertrophic, type 20//cardiomyopathy, hypertrophic, 20//cmh20//hypertrophic cardiomyopathy caused by mutation in nexn//hypertrophic cardiomyopathy type 20//nexn hypertrophic cardiomyopathy	NEXN	NEXN	https://raresource.nih.gov/literature/disease/0024932	0024932	613876		C3151267		nexilin F-actin binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 20"	None
Beta-thalassemia HBB/LCRB	thalassemia, beta//thalassemia, hispanic gamma-delta-beta	HBB	HBB	https://raresource.nih.gov/literature/disease/0024933	0024933			CN322236		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-thalassemia HBB/LCRB"	4
Lissencephaly 4	lis4//lissencephaly (disease) caused by mutation in nde1//lissencephaly 4 (with microcephaly)//lissencephaly type 4//nde1 lissencephaly (disease)	NDE1	NDE1	https://raresource.nih.gov/literature/disease/0024934	0024934	614019		C3151461		nudE neurodevelopment protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly 4"	None
Gluthathione peroxidase deficiency	hemolytic anaemia due to glutathione peroxidase deficiency//hemolytic anemia due to glutathione peroxidase deficiency	GPX1	GPX1	https://raresource.nih.gov/literature/disease/0024936	0024936	614164		C0398747		glutathione peroxidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gluthathione peroxidase deficiency"	None
Meckel syndrome, type 10	b9d2 meckel syndrome//b9d2-related meckel syndrome//meckel syndrome 10//meckel syndrome caused by mutation in b9d2//mks10	B9D2	B9D2	https://raresource.nih.gov/literature/disease/0024937	0024937	614175		C3280036		B9 domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 10"	None
Holoprosencephaly 11	cdon holoprosencephaly//holoprosencephaly caused by mutation in cdon//holoprosencephaly type 11//hpe11	CDON	CDON	https://raresource.nih.gov/literature/disease/0024938	0024938	614226		C3280215		cell adhesion associated, oncogene regulated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 11"	1
Pitt-Hopkins-like syndrome 2	nrxn1 pitt-hopkins-like syndrome//pitt-hopkins-like syndrome caused by mutation in nrxn1//pitt-hopkins-like syndrome type 2//pthsl2	NRXN1	NRXN1	https://raresource.nih.gov/literature/disease/0024939	0024939			C3280479		neurexin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pitt-Hopkins-like syndrome 2"	4
Chromosome 2p16.3 deletion syndrome	schizophrenia, susceptibility to, 17	NRXN1	NRXN1	https://raresource.nih.gov/literature/disease/0024940	0024940	614332		C3808494		neurexin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromosome 2p16.3 deletion syndrome"	None
Mannose-binding lectin deficiency	chronic infections, due to mbl deficiency//lectin complement activation pathway, defect in, 1//mannose-binding lectin protein deficiency//mannose-binding protein deficiency//mbl deficiency//mbl2 deficiency//mbp deficiency	MBL2	MBL2	https://raresource.nih.gov/literature/disease/0024941	0024941	614372		C3280586	C563602	mannose binding lectin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mannose-binding lectin deficiency"	399
Nephronophthisis 13	nephronophthisis type 13//nphp13	WDR19	WDR19	https://raresource.nih.gov/literature/disease/0024942	0024942	614377		C3280612		WD repeat domain 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 13"	4
Microphthalmia, syndromic 11	mcops11//microphthalmia, syndromic type 11//syndromic microphthalmia caused by mutation in vax1//vax1 syndromic microphthalmia	VAX1	VAX1	https://raresource.nih.gov/literature/disease/0024943	0024943	614402		C3553077		ventral anterior homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, syndromic 11"	None
Atrioventricular septal defect 4	atrioventricular septal defect caused by mutation in gata4//atrioventricular septal defect type 4//avsd4//gata4 atrioventricular septal defect	GATA4	GATA4	https://raresource.nih.gov/literature/disease/0024944	0024944	614430		C3280781		GATA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrioventricular septal defect 4"	None
Atrial septal defect 8	asd8//atrial heart septal defect caused by mutation in cited2//atrial heart septal defect type 8//atrial septal defect type 8//cited2 atrial heart septal defect	CITED2	CITED2	https://raresource.nih.gov/literature/disease/0024945	0024945	614433		C3280790		Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 8"	None
Congenital nongoitrous hypothyroidism 6	chng6//congenital nongoitrous hypothryoidism 6//hypothyroidism, congenital, nongoitrous caused by mutation in thra//hypothyroidism, congenital, nongoitrous, 6//hypothyroidism, congenital, nongoitrous, type 6//thra hypothyroidism, congenital, nongoitrous	THRA	THRA	https://raresource.nih.gov/literature/disease/0024946	0024946	614450		C3280817		thyroid hormone receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital nongoitrous hypothyroidism 6"	1
Arterial calcification, generalized, of infancy, 2	abcc6 arterial calcification of infancy//arterial calcification of infancy caused by mutation in abcc6//arterial calcification, generalized, of infancy, type 2	ABCC6	ABCC6	https://raresource.nih.gov/literature/disease/0024947	0024947	614473		C3276161		ATP binding cassette subfamily C member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arterial calcification, generalized, of infancy, 2"	None
Atrioventricular septal defect 5	atrioventricular septal defect caused by mutation in gata6//atrioventricular septal defect type 5//avsd5//gata6 atrioventricular septal defect	GATA6	GATA6	https://raresource.nih.gov/literature/disease/0024948	0024948	614474		C3280939		GATA binding protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrioventricular septal defect 5"	None
Atrial septal defect 9	asd9//atrial heart septal defect caused by mutation in gata6//atrial heart septal defect type 9//atrial septal defect type 9//gata6 atrial heart septal defect	GATA6	GATA6	https://raresource.nih.gov/literature/disease/0024949	0024949	614475		C3280943		GATA binding protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect 9"	None
Thrombocythemia 3	familial thrombocytosis caused by mutation in jak2//jak2 familial thrombocytosis//thcyt3//thrombocythemia 3, autosomal dominant, somatic mutation//thrombocythemia 3, somatic//thrombocythemia type 3//thrombocytosis 3	JAK2	JAK2	https://raresource.nih.gov/literature/disease/0024950	0024950	614521		C3281125		Janus kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocythemia 3"	None
Cataract 38	agk early-onset non-syndromic cataract//autosomal recessive congenital cataract 5//cataract 38, autosomal recessive//cataract type 38//cataract, autosomal recessive congenital 5//catc5//ctrct38//early-onset non-syndromic cataract caused by mutation in agk	AGK	AGK	https://raresource.nih.gov/literature/disease/0024957	0024957	614691		C3553494		acylglycerol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 38"	None
Seckel syndrome 6	cep63 seckel syndrome//sckl6//seckel syndrome caused by mutation in cep63//seckel syndrome type 6	CEP63	CEP63	https://raresource.nih.gov/literature/disease/0024958	0024958	614728		C3553582		centrosomal protein 63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 6"	None
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1//pulmonary fibrosis and/or bone marrow failure, telomere-related caused by mutation in tert//pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1//tert pulmonary fibrosis and/or bone marrow failure, telomere-related	TERT	TERT	https://raresource.nih.gov/literature/disease/0024959	0024959	614742		C3553617		telomerase reverse transcriptase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1"	None
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2//pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2	TERC	TERC	https://raresource.nih.gov/literature/disease/0024960	0024960	614743		C3553622		telomerase RNA component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2"	None
Heterotaxy, visceral, 6, autosomal	heterotaxy, visceral, 6, autosomal recessive//htx6	CFAP53	CFAP53	https://raresource.nih.gov/literature/disease/0024961	0024961	614779		C3553676		cilia and flagella associated protein 53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 6, autosomal"	None
Nephronophthisis 14	nephronophthisis (disease) caused by mutation in znf423//nephronophthisis type 14//nphp14//znf423 nephronophthisis (disease)	ZNF423	ZNF423	https://raresource.nih.gov/literature/disease/0024962	0024962	614844		C3539071		zinc finger protein 423	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 14"	None
Immunodeficiency 28	ifngr2 deficiency//ifngr2 primary immunodeficiency disease//imd28//immunodeficiency type 28//primary immunodeficiency disease caused by mutation in ifngr2	IFNGR2	IFNGR2	https://raresource.nih.gov/literature/disease/0024963	0024963	614889		C4013947		interferon gamma receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 28"	1
Congenital heart defects, multiple types, 2	chtd2//congenital heart defects, nonsyndromic, 2//congenital heart malformation caused by mutation in tab2//tab2 congenital heart malformation	TAB2	TAB2	https://raresource.nih.gov/literature/disease/0024964	0024964	614980		C3554279		TGF-beta activated kinase 1 (MAP3K7) binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital heart defects, multiple types, 2"	None
Intellectual developmental disorder with autism and macrocephaly	autism, susceptibility to, 18//autism, susceptibility to, type 18//chd8 overgrowth syndrome	CHD8	CHD8	https://raresource.nih.gov/literature/disease/0024965	0024965	615032	642675	C3554373		chromodomain helicase DNA binding protein 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with autism and macrocephaly"	1
Isolated microphthalmia 8	aldh1a3 isolated microphthalmia//isolated microphthalmia caused by mutation in aldh1a3//isolated microphthalmia type 8//mcop8//microphthalmia, isolated type 8	ALDH1A3	ALDH1A3	https://raresource.nih.gov/literature/disease/0024967	0024967	615113		C3554524		aldehyde dehydrogenase 1 family member A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated microphthalmia 8"	1
Lymphoproliferative syndrome 2	cd27 deficiency//cd27 lymphoproliferative syndrome//combined immunodeficiency due to cd27 deficiency//lpfs2//lymphoproliferative syndrome caused by mutation in cd27//lymphoproliferative syndrome type 2	CD27	CD27	https://raresource.nih.gov/literature/disease/0024968	0024968	615122		C3554540		CD27 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphoproliferative syndrome 2"	14
Cataract 39 multiple types	autosomal dominant cataract 39 multiple types//cataract 39, multiple types, autosomal dominant//crygb early-onset non-syndromic cataract//ctrct39//early-onset non-syndromic cataract caused by mutation in crygb	CRYGB	CRYGB	https://raresource.nih.gov/literature/disease/0024969	0024969	615188		C3808800		crystallin gamma B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 39 multiple types"	None
Hydrocephalus, nonsyndromic, autosomal recessive 2	congenital hydrocephalus caused by mutation in mpdz//hydrocephalus, congenital, 2, with or without brain or eye anomalies//hydrocephalus, nonsyndromic, autosomal recessive type 2//mpdz congenital hydrocephalus	MPDZ	MPDZ	https://raresource.nih.gov/literature/disease/0024970	0024970	615219		C3554691		multiple PDZ domain crumbs cell polarity complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrocephalus, nonsyndromic, autosomal recessive 2"	None
Cataract 15 multiple types	cataract 15, lamellar with sutural opacities//ctrct15//early-onset non-syndromic cataract caused by mutation in mip//mip early-onset non-syndromic cataract	MIP	MIP	https://raresource.nih.gov/literature/disease/0024971	0024971	615274		C3809001		major intrinsic protein of lens fiber	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 15 multiple types"	None
Cataract 19 multiple types	cataract 19, congenital total//cataract 19, cortical pulverulent//cataract type 19//ctrct19//early-onset non-syndromic cataract caused by mutation in lim2//lim2 early-onset non-syndromic cataract	LIM2	LIM2	https://raresource.nih.gov/literature/disease/0024972	0024972	615277		C3809004		lens intrinsic membrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 19 multiple types"	None
Pulmonary hypertension, primary, 3	cav1 primary pulmonary hypertension//primary pulmonary hypertension caused by mutation in cav1//pulmonary hypertension, primary, type 3	CAV1	CAV1	https://raresource.nih.gov/literature/disease/0024973	0024973	615343		C3809192		caveolin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary hypertension, primary, 3"	None
Pulmonary hypertension, primary, 4	kcnk3 primary pulmonary hypertension//primary pulmonary hypertension caused by mutation in kcnk3//pulmonary hypertension, primary, type 4	KCNK3	KCNK3	https://raresource.nih.gov/literature/disease/0024974	0024974	615344		C3809198		potassium two pore domain channel subfamily K member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary hypertension, primary, 4"	None
Precocious puberty, central, 2	central precocious puberty caused by mutation in mkrn3//cppb2//mkrn3 central precocious puberty//precocious puberty, central, type 2	MKRN3	MKRN3	https://raresource.nih.gov/literature/disease/0024975	0024975	615346		C3809199		makorin ring finger protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Precocious puberty, central, 2"	None
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14	congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b14//congenital muscular dystrophy-gmppb related//mddgb14//muscular dystrophy, congenital, gmppb-related//muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14	GMPPB	GMPPB	https://raresource.nih.gov/literature/disease/0024976	0024976	615351		C3809221		GDP-mannose pyrophosphorylase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14"	None
Microcephaly 11, primary, autosomal recessive	autosomal recessive primary microcephaly caused by mutation in phc1//phc1 autosomal recessive primary microcephaly//primary autosomal recessive microcephaly type11	PHC1	PHC1	https://raresource.nih.gov/literature/disease/0024977	0024977	615414		C3809431		polyhomeotic homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 11, primary, autosomal recessive"	None
Age related macular degeneration 14	age related macular degeneration type 14//armd14//macular degeneration, age-related, 14, reduced risk of//macular degeneration, age-related, 14, reduced risk of, digenic dominant//macular degeneration, age-related, type 14	CFB;C2	CFB;C2	https://raresource.nih.gov/literature/disease/0024978	0024978	615489		C3809653		complement factor B; complement C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Age related macular degeneration 14"	None
Multiple fibroadenoma of the breast	mammary polyadenomatosis//multiple fibroadenomas of breast//multiple fibroadenomas of the breast	PRLR	PRLR	https://raresource.nih.gov/literature/disease/0024980	0024980	615554		C3809918		prolactin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple fibroadenoma of the breast"	4
Alzheimer disease 18	ad18//adam10 alzheimer disease//alzheimer disease 18, late-onset//alzheimer disease 18, susceptibility to//alzheimer disease caused by mutation in adam10//alzheimer disease type 18//alzheimer's disease 18//alzheimer's disease type 18	ADAM10	ADAM10	https://raresource.nih.gov/literature/disease/0024982	0024982	615590		C3810041		ADAM metallopeptidase domain 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzheimer disease 18"	None
Renal hypodysplasia/aplasia 2	fgf20 renal agenesis (disease)//renal agenesis (disease) caused by mutation in fgf20//renal hypodysplasia/aplasia type 2//rhda2	FGF20	FGF20	https://raresource.nih.gov/literature/disease/0024984	0024984	615721		C3810359		fibroblast growth factor 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypodysplasia/aplasia 2"	None
Premature ovarian failure 8	pof8//premature ovarian failure type 8//primary ovarian failure caused by mutation in stag3//stag3 primary ovarian failure	STAG3	STAG3	https://raresource.nih.gov/literature/disease/0024985	0024985	615723		C3810367		STAG3 cohesin complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 8"	None
Premature ovarian failure 9	hfm1 primary ovarian failure//pof9//premature ovarian failure type 9//primary ovarian failure caused by mutation in hfm1	HFM1	HFM1	https://raresource.nih.gov/literature/disease/0024986	0024986	615724		C3810376		helicase for meiosis 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 9"	None
Congenital heart defects, multiple types, 4	chtd4//congenital heart defects, multiple types caused by mutation in nr2f2//nr2f2 congenital heart defects, multiple types	NR2F2	NR2F2	https://raresource.nih.gov/literature/disease/0024987	0024987	615779		C4014310		nuclear receptor subfamily 2 group F member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital heart defects, multiple types, 4"	None
Abdominal obesity-metabolic syndrome 3	abdominal obesity-metabolic syndrome type 3//aoms3//central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease//dyrk1b metabolic syndrome//metabolic syndrome caused by mutation in dyrk1b	DYRK1B	DYRK1B	https://raresource.nih.gov/literature/disease/0024989	0024989	615812		C4014361		dual specificity tyrosine phosphorylation regulated kinase 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Abdominal obesity-metabolic syndrome 3"	2
Nephrotic syndrome, type 10	emp2 nephrotic syndrome//nephrotic syndrome caused by mutation in emp2//nphs10	EMP2	EMP2	https://raresource.nih.gov/literature/disease/0024991	0024991	615861		C4014507		epithelial membrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrotic syndrome, type 10"	None
Nephronophthisis 18	cep83 nephronophthisis (disease)//nephronophthisis (disease) caused by mutation in cep83//nephronophthisis type 18//nphp18	CEP83	CEP83	https://raresource.nih.gov/literature/disease/0024992	0024992	615862		C3890591		centrosomal protein 83	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis 18"	None
Diabetes mellitus, noninsulin-dependent, 5	diabetes mellitus, noninsulin-dependent, type 5//t2d5//tbc1d4 type 2 diabetes mellitus//type 2 diabetes 5//type 2 diabetes mellitus caused by mutation in tbc1d4	TBC1D4	TBC1D4	https://raresource.nih.gov/literature/disease/0024993	0024993	616087		C4015183		TBC1 domain family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diabetes mellitus, noninsulin-dependent, 5"	None
Immunodeficiency 37	bcl10 primary immunodeficiency disease//combined immunodeficiency due to bcl10 deficiency//imd37//immunodeficiency type 37//primary immunodeficiency disease caused by mutation in bcl10	BCL10	BCL10	https://raresource.nih.gov/literature/disease/0024994	0024994	616098		C4015195		BCL10 immune signaling adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 37"	None
Macular degeneration, early-onset	eomd	FBN2	FBN2	https://raresource.nih.gov/literature/disease/0024995	0024995	616118		C4015286		fibrillin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular degeneration, early-onset"	7
Macular dystrophy with central cone involvement	ccmd	MFSD8	MFSD8	https://raresource.nih.gov/literature/disease/0024996	0024996	616170		C4015371		major facilitator superfamily domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular dystrophy with central cone involvement"	3
Microcephaly and chorioretinopathy 2	microcephaly and chorioretinopathy caused by mutation in plk4//microcephaly and chorioretinopathy type 2//microcephaly and chorioretinopathy, autosomal recessive, 2//microcephaly and chorioretinopathy, autosomal recessive, type 2//plk4 microcephaly and chorioretinopathy	PLK4	PLK4	https://raresource.nih.gov/literature/disease/0024997	0024997	616171		C4015388		polo like kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly and chorioretinopathy 2"	None
Retinal dystrophy and obesity	rdob	TUB	TUB	https://raresource.nih.gov/literature/disease/0024998	0024998	616188		C4015424		TUB bipartite transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal dystrophy and obesity"	None
Lissencephaly 6 with microcephaly	katnb1 microlissencephaly//microlissencephaly caused by mutation in katnb1	KATNB1	KATNB1	https://raresource.nih.gov/literature/disease/0024999	0024999	616212		C4015525		katanin regulatory subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly 6 with microcephaly"	None
Thrombocytopenia 5	etv6 thrombocytopenia//thc5//thrombocytopenia 5 with increased susceptibility to malignancy//thrombocytopenia caused by mutation in etv6//thrombocytopenia type 5//thrombocytopenia, autosomal dominant, 5	ETV6	ETV6	https://raresource.nih.gov/literature/disease/0025000	0025000	616216		C4015537		ETS variant transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 5"	4
Lethal congenital contracture syndrome 6	lccs6//lethal congenital contracture syndrome caused by mutation in zbtb42//lethal congenital contracture syndrome type 6//zbtb42 lethal congenital contracture syndrome	ZBTB42	ZBTB42	https://raresource.nih.gov/literature/disease/0025001	0025001	616248		C4015686		zinc finger and BTB domain containing 42	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 6"	None
Congenital bile acid synthesis defect 5	abcd3 congenital bile acid synthesis defect//bile acid synthesis defect, congenital, type 5//cbas5//congenital bile acid synthesis defect caused by mutation in abcd3//congenital bile acid synthesis defect type 5	ABCD3	ABCD3	https://raresource.nih.gov/literature/disease/0025002	0025002	616278		C4225390		ATP binding cassette subfamily D member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect 5"	2
Cataract 43	cataract type 43//ctrct43//early-onset non-syndromic cataract caused by mutation in unc45b//unc45b early-onset non-syndromic cataract	UNC45B	UNC45B	https://raresource.nih.gov/literature/disease/0025003	0025003	616279		C4225389		unc-45 myosin chaperone B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 43"	None
Lissencephaly 7 with cerebellar hypoplasia	lis7	CDK5	CDK5	https://raresource.nih.gov/literature/disease/0025004	0025004	616342		C4225359		cyclin dependent kinase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly 7 with cerebellar hypoplasia"	None
Immunodeficiency 39	imd39//immunodeficiency type 39//irf7 primary immunodeficiency disease//predisposition to severe viral infection due to interferon regulatory factor 7 deficiency//predisposition to severe viral infection due to irf7 deficiency//primary immunodeficiency disease caused by mutation in irf7	IRF7	IRF7	https://raresource.nih.gov/literature/disease/0025005	0025005	616345	574918	C4225358		interferon regulatory factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 39"	None
Intellectual disability, autosomal dominant 34	autosomal dominant intellectual disability 34//autosomal dominant mental retardation 34//autosomal dominant non-syndromic intellectual disability caused by mutation in col4a3bp//certra syndrome//col4a3bp autosomal dominant non-syndromic intellectual disability//intellectual developmental disorder, autosomal dominant 34//intellectual disability, autosomal dominant type 34//mental retardation, autosomal dominant type 34//mrd34//nedhsf//neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies	CERT1	CERT1	https://raresource.nih.gov/literature/disease/0025006	0025006	616351		C4225156		ceramide transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 34"	1
Hypomyelinating leukodystrophy 10	hld10//hypomyelinating leukodystrophy type 10//leukodystrophy caused by mutation in pycr2//leukodystrophy, hypomyelinating, 10//leukodystrophy, hypomyelinating, type 10//pycr2 leukodystrophy//pycr2-related microcephaly, progressive leukoencephalopathy//pycr2-related microcephaly-progressive leukoencephalopathy//pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	PYCR2	PYCR2	https://raresource.nih.gov/literature/disease/0025008	0025008	616420	481152	C4225332		pyrroline-5-carboxylate reductase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 10"	8
Al-Raqad syndrome		DCPS	DCPS	https://raresource.nih.gov/literature/disease/0025009	0025009	616459		C4085595		decapping enzyme, scavenger	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Al-Raqad syndrome"	3
Epidermolysis bullosa simplex with nail dystrophy	ebs5d//epidermolysis bullosa simplex 5d, generalised intermediate, autosomal recessive//epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0025010	0025010	616487		C4225309		plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex with nail dystrophy"	None
Lethal congenital contracture syndrome 9	adgrg6 lethal congenital contracture syndrome//lccs9//lethal congenital contracture syndrome caused by mutation in adgrg6//lethal congenital contracture syndrome type 9	ADGRG6	ADGRG6	https://raresource.nih.gov/literature/disease/0025011	0025011	616503		C4225303		adhesion G protein-coupled receptor G6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 9"	None
Parkinson disease 22, autosomal dominant	chchd2 parkinson disease//park22//parkinson disease 22, autosomal dominant; park22//parkinson disease caused by mutation in chchd2	CHCHD2	CHCHD2	https://raresource.nih.gov/literature/disease/0025012	0025012	616710		C4225238		coiled-coil-helix-coiled-coil-helix domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinson disease 22, autosomal dominant"	None
Primary coenzyme Q10 deficiency 8	coenzyme q10 deficiency caused by mutation in coq7//coenzyme q10 deficiency, primary, 8//coenzyme q10 deficiency, primary, type 8//coq10d8//coq7 coenzyme q10 deficiency	COQ7	COQ7	https://raresource.nih.gov/literature/disease/0025013	0025013	616733		C4225226		coenzyme Q7, hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary coenzyme Q10 deficiency 8"	None
Heterotaxy, visceral, 7, autosomal	heterotaxy, visceral, 7, autosomal; htx7//htx7//mmp21 visceral heterotaxy//visceral heterotaxy caused by mutation in mmp21	MMP21	MMP21	https://raresource.nih.gov/literature/disease/0025014	0025014	616749		C4225217		matrix metallopeptidase 21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 7, autosomal"	None
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2//cadasil 2//cadasil caused by mutation in htra1//cadasil type 2//cadasil2//htra1 cadasil	HTRA1	HTRA1	https://raresource.nih.gov/literature/disease/0025015	0025015			C4225211		HtrA serine peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"	4
Cataract 45	cataract type 45//ctrct45//early-onset non-syndromic cataract caused by mutation in sipa1l3//sipa1l3 early-onset non-syndromic cataract	SIPA1L3	SIPA1L3	https://raresource.nih.gov/literature/disease/0025016	0025016	616851		C4225182		signal induced proliferation associated 1 like 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 45"	None
Hypomyelinating leukodystrophy 13	hikeshi leukodystrophy//hld13//hypomyelinating leukodystrophy type 13//leukodystrophy caused by mutation in hikeshi//leukodystrophy, hypomyelinating, 13//leukodystrophy, hypomyelinating, type 13	HIKESHI	HIKESHI	https://raresource.nih.gov/literature/disease/0025018	0025018			C4225170		heat shock protein nuclear import factor hikeshi	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelinating leukodystrophy 13"	1
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	mitochondrial dna depletion syndrome 14 (cardioencephalomyopathic type); mtdps14//mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type)//mitochondrial dna depletion syndrome caused by mutation in opa1//mtdps14//opa1 mitochondrial dna depletion syndrome	OPA1	OPA1	https://raresource.nih.gov/literature/disease/0025019	0025019	616896		C4225163		OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)"	None
Striatal degeneration, autosomal dominant 2	adsd2//pde10a striatal degeneration, autosomal dominant//striatal degeneration, autosomal dominant 2; adsd2//striatal degeneration, autosomal dominant caused by mutation in pde10a//striatal degeneration, autosomal dominant type 2	PDE10A	PDE10A	https://raresource.nih.gov/literature/disease/0025021	0025021			C4310791		phosphodiesterase 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Striatal degeneration, autosomal dominant 2"	None
Charcot-Marie-Tooth disease axonal type 2CC	charcot-marie-tooth disease caused by mutation in nefh//charcot-marie-tooth neuropathy type 2cc//charcot-marie-tooth neuropathy, type 2cc//cmt2cc//nefh charcot-marie-tooth disease	NEFH	NEFH	https://raresource.nih.gov/literature/disease/0025022	0025022	616924		C4310790		neurofilament heavy chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease axonal type 2CC"	10
Intellectual disability, autosomal dominant 41	autosomal dominant intellectual disability 41//autosomal dominant mental retardation 41//autosomal dominant non-syndromic intellectual disability caused by mutation in tbl1xr1//intellectual developmental disorder, autosomal dominant 41//intellectual disability, autosomal dominant type 41//mental retardation, autosomal dominant 41//mental retardation, autosomal dominant type 41//mrd41//tbl1xr1 autosomal dominant non-syndromic intellectual disability	TBL1XR1	TBL1XR1	https://raresource.nih.gov/literature/disease/0025023	0025023	616944		C4310784		TBL1X/Y related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 41"	None
Premature ovarian failure 11	ercc6 primary ovarian failure//pof11//premature ovarian failure 11; pof11//premature ovarian failure type 11//primary ovarian failure caused by mutation in ercc6	ERCC6	ERCC6	https://raresource.nih.gov/literature/disease/0025024	0025024	616946		C4310783		ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 11"	None
Premature ovarian failure 12	pof12//premature ovarian failure 12; pof12//premature ovarian failure type 12//primary ovarian failure caused by mutation in syce1//syce1 primary ovarian failure	SYCE1	SYCE1	https://raresource.nih.gov/literature/disease/0025025	0025025	616947		C4310782		synaptonemal complex central element protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 12"	None
Spinocerebellar ataxia, autosomal recessive 22	autosomal recessive cerebellar ataxia caused by mutation in vwa3b//scar22//spinocerebellar ataxia, autosomal recessive 22; scar22//spinocerebellar ataxia, autosomal recessive type 22//vwa3b autosomal recessive cerebellar ataxia	VWA3B	VWA3B	https://raresource.nih.gov/literature/disease/0025026	0025026	616948		C4310781		von Willebrand factor A domain containing 3B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 22"	None
Developmental and epileptic encephalopathy, 37	dee37//early infantile epileptic encephalopathy caused by mutation in frrs1l//eiee37//epileptic encephalopathy, early infantile, 37//epileptic encephalopathy, early infantile, 37; eiee37//epileptic encephalopathy, early infantile, type 37//frrs1l early infantile epileptic encephalopathy	FRRS1L	FRRS1L	https://raresource.nih.gov/literature/disease/0025027	0025027	616981		C4310770		ferric chelate reductase 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 37"	1
Hyperaldosteronism, familial, type IV	aldosteronism, primary, and hypertension//familial hyperaldosteronism type 4//familial hyperaldosteronism type iv//fh iv//fh4 - familial hyperaldosteronism type iv//hald4//hyperaldosteronism, familial, type iv; hald4	CACNA1H	CACNA1H	https://raresource.nih.gov/literature/disease/0025028	0025028	617027	642671	C4310756		calcium voltage-gated channel subunit alpha1 H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperaldosteronism, familial, type IV"	7
Hypertrophic cardiomyopathy 26	cardiomyopathy familial hypertrophic 26//cardiomyopathy, familial hypertrophic, 26//cardiomyopathy, familial hypertrophic, type 26//cardiomyopathy, familial restrictive 5//cmh26//flnc hypertrophic cardiomyopathy//hypertrophic cardiomyopathy caused by mutation in flnc//hypertrophic cardiomyopathy type 26	FLNC	FLNC	https://raresource.nih.gov/literature/disease/0025029	0025029	617047		C4310749		filamin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertrophic cardiomyopathy 26"	None
Bone marrow failure syndrome 3	bmfs3//bone marrow failure syndrome caused by mutation in dnajc21//bone marrow failure syndrome type 3//dnajc21 bone marrow failure syndrome//dnajc21-related bone marrow failure syndrome	DNAJC21	DNAJC21	https://raresource.nih.gov/literature/disease/0025030	0025030	617052		C4310744		DnaJ heat shock protein family (Hsp40) member C21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bone marrow failure syndrome 3"	4
Congenital disorder of glycosylation, type IAA	cdg1aa//congenital disorder of glycosylation, type 1aa//congenital disorder of glycosylation, type iaa; cdg1aa	NUS1	NUS1	https://raresource.nih.gov/literature/disease/0025031	0025031	617082		C4310727		NUS1 dehydrodolichyl diphosphate synthase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IAA"	None
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	charcot-marie-tooth disease type 2a2b//charcot-marie-tooth disease, axonal, type 2a2b	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0025032	0025032	617087		C4310725		mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;"	None
Sessile serrated polyposis cancer syndrome	sessile serrated polyposis cancer syndrome; sspcs//sspcs	RNF43	RNF43	https://raresource.nih.gov/literature/disease/0025033	0025033			C4310714		ring finger protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sessile serrated polyposis cancer syndrome"	1
Myofibrillar myopathy 7	alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy//ky myofibrillar myopathy (disease)//myofibrillar myopathy (disease) caused by mutation in ky//myopathy, myofibrillar, 7//myopathy, myofibrillar, type 7	KY	KY	https://raresource.nih.gov/literature/disease/0025034	0025034			C4310711		kyphoscoliosis peptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 7"	2
Spinocerebellar ataxia, autosomal recessive 24	autosomal recessive cerebellar ataxia caused by mutation in uba5//scar24//spinocerebellar ataxia, autosomal recessive 24; scar24//spinocerebellar ataxia, autosomal recessive type 24//uba5 autosomal recessive cerebellar ataxia	UBA5	UBA5	https://raresource.nih.gov/literature/disease/0025035	0025035	617133		C4310699		ubiquitin like modifier activating enzyme 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 24"	None
Arthrogryposis, distal, with impaired proprioception and touch	arthrogryposis, distal, with impaired proprioception and touch; daipt//daipt	PIEZO2	PIEZO2	https://raresource.nih.gov/literature/disease/0025036	0025036	617146		C4310692		piezo type mechanosensitive ion channel component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, with impaired proprioception and touch"	4
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	hepatocerebral mitochondrial dna depletion syndrome//mitochondrial dna depletion syndrome caused by mutation in tfam//mtdps15//tfam mitochondrial dna depletion syndrome	TFAM	TFAM	https://raresource.nih.gov/literature/disease/0025037	0025037	617156		C4310690		transcription factor A, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	16
Sifrim-Hitz-Weiss syndrome	chd4-related neurodevelopmental disorder//chd4-related neurodevelopmental syndrome//chromodomain helicase dna binding protein 4-related neurodevelopmental disorder//sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome//sifrim-hitz-weiss syndrome; sihiwes//sihiwes	CHD4	CHD4	https://raresource.nih.gov/literature/disease/0025038	0025038	617159	653712	C4310688		chromodomain helicase DNA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sifrim-Hitz-Weiss syndrome"	11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	mitochondrial dna depletion syndrome 12a (cardiomyopathic type) ad//mitochondrial dna depletion syndrome 12a (cardiomyopathic type), autosomal dominant; mtdps12a//mtdps12a	SLC25A4	SLC25A4	https://raresource.nih.gov/literature/disease/0025039	0025039	617184		C4310676		solute carrier family 25 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant"	None
Heterotaxy, visceral, 8, autosomal	heterotaxy, visceral, 8, autosomal; htx8//htx8//pkd1l1 visceral heterotaxy//visceral heterotaxy caused by mutation in pkd1l1	PKD1L1	PKD1L1	https://raresource.nih.gov/literature/disease/0025041	0025041	617205		C4310668		polycystin 1 like 1, transient receptor potential channel interacting	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 8, autosomal"	None
Immunodeficiency 49	bcl11b primary immunodeficiency disease//imd49//immunodeficiency 49, severe combined//immunodeficiency 49; imd49//immunodeficiency type 49//primary immunodeficiency disease caused by mutation in bcl11b//scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities//severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities	BCL11B	BCL11B	https://raresource.nih.gov/literature/disease/0025043	0025043	617237		C4310656		BCL11 transcription factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 49"	1
Lissencephaly 8	lis8//lissencephaly (disease) caused by mutation in tmtc3//lissencephaly 8; lis8//lissencephaly type 8//tmtc3 lissencephaly (disease)	TMTC3	TMTC3	https://raresource.nih.gov/literature/disease/0025044	0025044	617255		C4310646		transmembrane O-mannosyltransferase targeting cadherins 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly 8"	None
Myofibrillar myopathy 8	myofibrillar myopathy (disease) caused by mutation in pyroxd1//myopathy, myofibrillar, 8//myopathy, myofibrillar, type 8//pyroxd1 myofibrillar myopathy (disease)	PYROXD1	PYROXD1	https://raresource.nih.gov/literature/disease/0025045	0025045	617258		C4310645		pyridine nucleotide-disulphide oxidoreductase domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 8"	None
Tooth agenesis, selective, 9	grem2 tooth agenesis//sthag9//tooth agenesis caused by mutation in grem2//tooth agenesis, selective, 9; sthag9//tooth agenesis, selective, type 9	GREM2	GREM2	https://raresource.nih.gov/literature/disease/0025046	0025046	617275		C4310638		gremlin 2, DAN family BMP antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 9"	None
Developmental and epileptic encephalopathy, 49	dee49//dennd5a early infantile epileptic encephalopathy//early infantile epileptic encephalopathy caused by mutation in dennd5a//eiee49//epileptic encephalopathy, early infantile, 49//epileptic encephalopathy, early infantile, 49; eiee49//epileptic encephalopathy, early infantile, type 49	DENND5A	DENND5A	https://raresource.nih.gov/literature/disease/0025047	0025047	617281		C4310635		DENN domain containing 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 49"	None
Epilepsy, early-onset, vitamin B6-dependent	epilepsy, early-onset, 1, vitamin b6-dependent//epilepsy, early-onset, vitamin b6-dependent; epvb6d//epvb6d	PLPBP	PLPBP	https://raresource.nih.gov/literature/disease/0025048	0025048	617290		C4310632		pyridoxal phosphate binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, early-onset, vitamin B6-dependent"	1
Lymphatic malformation 7	hfasd//hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to//hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; hfasd//lmphm7	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0025049	0025049	617300		C4310629		EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 7"	98
Congenital bile acid synthesis defect 6	acox2 congenital bile acid synthesis defect//bile acid synthesis defect, congenital, 6//bile acid synthesis defect, congenital, type 6//cbas6//congenital bile acid synthesis defect caused by mutation in acox2//congenital bile acid synthesis defect type 6	ACOX2	ACOX2	https://raresource.nih.gov/literature/disease/0025050	0025050	617308		C4310624		acyl-CoA oxidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect 6"	None
Anterior segment dysgenesis 6	anterior segment dysgenesis 6, multiple subtypes//anterior segment dysgenesis type 6//asgd6	CYP1B1	CYP1B1	https://raresource.nih.gov/literature/disease/0025051	0025051	617315		C4310623		cytochrome P450 family 1 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 6"	None
Ichthyosis, congenital, autosomal recessive 12	arci12//ichthyosis, congenital, autosomal recessive 12; arci12//ichthyosis, congenital, autosomal recessive type 12	CASP14	CASP14	https://raresource.nih.gov/literature/disease/0025052	0025052	617320		C4310621		caspase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, congenital, autosomal recessive 12"	None
Intellectual disability, autosomal recessive 59	autosomal recessive non-syndromic intellectual disability caused by mutation in impa1//impa1 autosomal recessive non-syndromic intellectual disability//intellectual disability, autosomal recessive type 59//mental retardation, autosomal recessive 59//mental retardation, autosomal recessive type 59//mrt59	IMPA1	IMPA1	https://raresource.nih.gov/literature/disease/0025053	0025053	617323		C4310619		inositol monophosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 59"	1
Hypotonia, ataxia, and delayed development syndrome	developmental delay-ataxia-hypotonia-facial dysmorphism syndrome//ebf3 neurodevelopmental disorder//hadds//hypotonia, ataxia, and delayed development syndrome; hadds	EBF3	EBF3	https://raresource.nih.gov/literature/disease/0025054	0025054	617330	658843	C4310618		EBF transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia, ataxia, and delayed development syndrome"	9
Developmental and epileptic encephalopathy, 51	dee51//early infantile epileptic encephalopathy caused by mutation in mdh2//eiee51//epileptic encephalopathy, early infantile, 51//epileptic encephalopathy, early infantile, 51; eiee51//epileptic encephalopathy, early infantile, type 51//mdh2 early infantile epileptic encephalopathy	MDH2	MDH2	https://raresource.nih.gov/literature/disease/0025055	0025055	617339		C4479208		malate dehydrogenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 51"	None
Congenital stationary night blindness	congenital essential nyctalopia//congenital night blindness//csnb - congenital stationary night blindness//hereditary night blindness//night blindness since birth//night blindness, congenital//night blindness, congenital stationary//night blindness, congenital stationary, complete//night blindness, stationary//static congenital hemeralopia	LRIT3;GRM6;GNB3;CACNA1F;RHO;TRPM1;SLC24A1;NYX;CABP4;GPR179;GNAT1;PDE6B	LRIT3;GRM6;GNB3;CACNA1F;RHO;TRPM1;SLC24A1;NYX;CABP4;GPR179;GNAT1;PDE6B	https://raresource.nih.gov/literature/disease/0025068	0025068		215	C0339535	C536122	leucine rich repeat, Ig-like and transmembrane domains 3; glutamate metabotropic receptor 6; G protein subunit beta 3; calcium voltage-gated channel subunit alpha1 F; rhodopsin; transient receptor potential cation channel subfamily M member 1; solute carrier family 24 member 1; nyctalopin; calcium binding protein 4; G protein-coupled receptor 179; G protein subunit alpha transducin 1; phosphodiesterase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness"	471
Triphalangeal thumb-polysyndactyly syndrome	tpt-ps syndrome//tptps//triphalangeal thumb and polysyndactyly syndrome//triphalangeal thumb with polysyndactyly syndrome	LMBR1	LMBR1	https://raresource.nih.gov/literature/disease/0025097	0025097	190605		C5779878		limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Triphalangeal thumb-polysyndactyly syndrome"	19
Ehlers-Danlos syndrome, classic type, 1	eds i//edscl1//ehlers-danlos syndrome, gravis type//ehlers-danlos syndrome, severe classic type//ehlers-danlos syndrome, type 1//ehlers-danlos syndrome, type i//type i ehlers-danlos syndrome	COL5A1	COL5A1	https://raresource.nih.gov/literature/disease/0025140	0025140	130000		C0268335	C536194	collagen type V alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, classic type, 1"	16
Ehlers-Danlos syndrome, classic type, 2	eds ii//edscl2//ehlers-danlos syndrome type 2 (formerly)//ehlers-danlos syndrome, type 2	COL5A2	COL5A2	https://raresource.nih.gov/literature/disease/0025141	0025141	130010		C0268336	C536195	collagen type V alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, classic type, 2"	5
Spondyloepiphyseal dysplasia tarda	sedt//spondyloepiphyseal dysplasia, late	TRAPPC2	TRAPPC2	https://raresource.nih.gov/literature/disease/0025144	0025144		93284	CN033239		trafficking protein particle complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia tarda"	129
Simpson-Golabi-Behmel syndrome type 1	dgsx golabi-rosen syndrome//dysplasia gigantism syndrome, x-linked//gpc3 simpson-golabi-behmel syndrome//gpc3-related simpson-golabi-behmel syndrome type 1//sgbs1//simpson-golabi-behmel syndrome caused by mutation in gpc3//simpson-golabi-behmel syndrome, type 1, x-linked recessive	GPC4;GPC3	GPC4;GPC3	https://raresource.nih.gov/literature/disease/0025185	0025185			C0796154		glypican 4; glypican 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Simpson-Golabi-Behmel syndrome type 1"	16
Liddle syndrome 1	liddle syndrome caused by mutation in scnn1b//liddle syndrome, scnn1b-related//lidls1//scnn1b liddle syndrome	SCNN1B	SCNN1B	https://raresource.nih.gov/literature/disease/0025186	0025186			CN031472		sodium channel epithelial 1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liddle syndrome 1"	None
Developmental and epileptic encephalopathy 91	dee91//epileptic encephalopathy, infantile or early childhood, 1	PPP3CA	PPP3CA	https://raresource.nih.gov/literature/disease/0025189	0025189	617711		C4540199		protein phosphatase 3 catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 91"	None
Ehlers-Danlos syndrome, musculocontractural type 1		CHST14	CHST14	https://raresource.nih.gov/literature/disease/0025208	0025208			CN295219		carbohydrate sulfotransferase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, musculocontractural type 1"	None
Ehlers-Danlos syndrome, spondylodysplastic type, 1	b4galt7-related spondylodysplastic eds (ehlers-danlos syndrome)//dermatan sulfate proteoglycan//dermatan sulphate proteoglycan//edsspd1//ehlers-danlos syndrome with short stature and limb anomalies//ehlers-danlos syndrome, progeroid type 1//ehlers-danlos syndrome, progeroid type, 1//galactosyltransferase 1 deficiency//pds, defective biosynthesis of//proteodermatan sulfate, defective biosynthesis of//xgpt deficiency//xylosylprotein 4-beta-galactosyltransferase deficiency	B4GALT7	B4GALT7	https://raresource.nih.gov/literature/disease/0025209	0025209	130070		C4552003		beta-1,4-galactosyltransferase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, spondylodysplastic type, 1"	1
Ehlers-Danlos syndrome, periodontal type 1		C1R	C1R	https://raresource.nih.gov/literature/disease/0025210	0025210			C4551499		complement C1r	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, periodontal type 1"	None
46,XY sex reversal 1	46,xy gonadal dysgenesis, complete, sry-related//46,xy sex reversal type 1//46,xy sex reversal, sry-related//46,xy true hermaphroditism, sry-related//46xy sex reversal 1, y-linked//srxy1//sry-related 46,xy complete gonadal dysgenesis	SRY	SRY	https://raresource.nih.gov/literature/disease/0025219	0025219			C2748896		sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY sex reversal 1"	None
Pulmonary venoocclusive disease 1	pulmonary venoocclusive disease 1, autosomal dominant//pvod1	BMPR2	BMPR2	https://raresource.nih.gov/literature/disease/0025220	0025220			C3887658		bone morphogenetic protein receptor type 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary venoocclusive disease 1"	None
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy//multiple mitochondrial dysfunctions syndrome 8	FDX2	FDX2	https://raresource.nih.gov/literature/disease/0025221	0025221	251900		C5193223		ferredoxin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	None
Autosomal dominant wooly hair	autosomal dominant woolly hair//woolly hair, autosomal dominant//wooly hair, autosomal dominant	KRT74	KRT74	https://raresource.nih.gov/literature/disease/0025222	0025222			C1860238		keratin 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant wooly hair"	3
Cerebral cavernous malformation 1	cerebral cavernous malformations 1//cerebral cavernous malformations-1//familial cerebral cavernous malformation 1	KRIT1	KRIT1	https://raresource.nih.gov/literature/disease/0025224	0025224			C1366911		KRIT1 ankyrin repeat containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral cavernous malformation 1"	1
Combined oxidative phosphorylation deficiency 22	coxpd22	ATP5F1A	ATP5F1A	https://raresource.nih.gov/literature/disease/0025225	0025225	616045		C4015062		ATP synthase F1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 22"	None
Dalmatian hypouricemia	hypouricemia, renal 1//renal hypouricemia 1//rhuc1	SLC22A12	SLC22A12	https://raresource.nih.gov/literature/disease/0025226	0025226			C0473219		solute carrier family 22 member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dalmatian hypouricemia"	5
Autosomal recessive agammaglobulinemia 1	agammaglobulinemia type 1//agammaglobulinemia, autosomal recessive, due to ighm defect//agm1	IGHM	IGHM	https://raresource.nih.gov/literature/disease/0025227	0025227	601495		C3152144		immunoglobulin heavy constant mu	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive agammaglobulinemia 1"	None
Carpal tunnel syndrome 1	amyotrophy, thenar, of carpal origin//carpal tunnel syndrome, familial//cts1	TTR	TTR	https://raresource.nih.gov/literature/disease/0025228	0025228	115430		C5779776		transthyretin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carpal tunnel syndrome 1"	None
Proximal symphalangism 1A		NOG	NOG	https://raresource.nih.gov/literature/disease/0025229	0025229			C3714899		noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal symphalangism 1A"	None
ACTH-independent macronodular adrenal hyperplasia 1	acth-independent macronodular adrenal hyperplasia, somatic//acth-independent macronodular adrenal hyperplasia, somatic mutation//acth-independent macronodular adrenocortical hyperplasia//adrenocorticotropic hormone-independent macronodular adrenal hyperplasia//aimah1//corticotropin-independent macronodular adrenal hyperplasia//cushing syndrome, adrenal, due to aimah	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0025230	0025230	219080		C1857451		GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACTH-independent macronodular adrenal hyperplasia 1"	27
Multiple benign circumferential skin creases on limbs 1	skin creases, multiple benign ring-shaped, of limbs//symmetric circumferential skin creases, congenital, 1	TUBB	TUBB	https://raresource.nih.gov/literature/disease/0025231	0025231			C4551592		tubulin beta class I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple benign circumferential skin creases on limbs 1"	None
Ectodermal dysplasia and immunodeficiency 1	ectodermal dysplasia and immune deficiency 1//ectodermal dysplasia and immunodeficiency 1, x-linked recessive//ectodermal dysplasia, anhidrotic, with immune deficiency//edaid1//hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0025232	0025232			C1846008		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia and immunodeficiency 1"	1
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant		ALDH7A1	ALDH7A1	https://raresource.nih.gov/literature/disease/0025233	0025233			CN293409		aldehyde dehydrogenase 7 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant"	None
Contractures, pterygia, and variable skeletal fusions syndrome 1B	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b	MYH3	MYH3	https://raresource.nih.gov/literature/disease/0025234	0025234	618469		C5193114		myosin heavy chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Contractures, pterygia, and variable skeletal fusions syndrome 1B"	None
Sitosterolemia 1	stsl1	ABCG8	ABCG8	https://raresource.nih.gov/literature/disease/0025235	0025235			C2749759		ATP binding cassette subfamily G member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sitosterolemia 1"	None
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	plosl1//trem2-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy//tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	TYROBP	TYROBP	https://raresource.nih.gov/literature/disease/0025236	0025236	221770		C4721893		transmembrane immune signaling adaptor TYROBP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	None
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		TREM2	TREM2	https://raresource.nih.gov/literature/disease/0025237	0025237	618193		C4748657		triggering receptor expressed on myeloid cells 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	None
Orthostatic hypotension 2		CYB561	CYB561	https://raresource.nih.gov/literature/disease/0025238	0025238	618182		C4748569		cytochrome b561	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orthostatic hypotension 2"	None
Diencephalic-mesencephalic junction dysplasia syndrome 2	dmjds2//spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia	GSX2	GSX2	https://raresource.nih.gov/literature/disease/0025240	0025240	618646		C5231440		GS homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diencephalic-mesencephalic junction dysplasia syndrome 2"	None
Menke-Hennekam syndrome 1	mkhk1	CREBBP	CREBBP	https://raresource.nih.gov/literature/disease/0025241	0025241	618332		C5193034		CREB binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Menke-Hennekam syndrome 1"	1
Neuropathy, congenital hypomyelinating, 2	chn2//hypomyelinating neuropathy, congenital, 2	MPZ	MPZ	https://raresource.nih.gov/literature/disease/0025242	0025242	618184		C4722277		myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, congenital hypomyelinating, 2"	None
Menke-Hennekam syndrome 2	mkhk2	EP300	EP300	https://raresource.nih.gov/literature/disease/0025243	0025243	618333		C5193035		E1A binding protein p300	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Menke-Hennekam syndrome 2"	1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	scan3	COA7	COA7	https://raresource.nih.gov/literature/disease/0025244	0025244	618387		C5193070		cytochrome c oxidase assembly factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	2
Congenital disorder of glycosylation with defective fucosylation 1	cdgf1	FUT8	FUT8	https://raresource.nih.gov/literature/disease/0025246	0025246			CN258220		fucosyltransferase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation with defective fucosylation 1"	None
Congenital disorder of glycosylation with defective fucosylation 2	cdgf2	FCSK	FCSK	https://raresource.nih.gov/literature/disease/0025247	0025247	618324		C5193028		fucose kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation with defective fucosylation 2"	2
Hypomagnesemia, seizures, and intellectual disability 1	homgsmr1//hypomagnesemia, seizures, and impaired intellectual development 1	CNNM2	CNNM2	https://raresource.nih.gov/literature/disease/0025248	0025248			C4225333		cyclin and CBS domain divalent metal cation transport mediator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomagnesemia, seizures, and intellectual disability 1"	1
Hypomagnesemia, seizures, and intellectual disability 2	homgsmr2//hypomagnesemia, seizures, and impaired intellectual development 2	ATP1A1	ATP1A1	https://raresource.nih.gov/literature/disease/0025249	0025249	618314		C5193023		ATPase Na+/K+ transporting subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomagnesemia, seizures, and intellectual disability 2"	None
Pseudo-TORCH syndrome 1	pseudo-torch syndrome type 1//ptorch1	OCLN	OCLN	https://raresource.nih.gov/literature/disease/0025250	0025250			C4552078		occludin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo-TORCH syndrome 1"	1
Gaze palsy, familial horizontal, with progressive scoliosis 1	hgpps//hgpps1	ROBO3	ROBO3	https://raresource.nih.gov/literature/disease/0025251	0025251			C4551964		roundabout guidance receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaze palsy, familial horizontal, with progressive scoliosis 1"	50
Corneal dystrophy, Meesmann, 1	meesmann corneal dystrophy 1	KRT12	KRT12	https://raresource.nih.gov/literature/disease/0025252	0025252	122100		C5231499		keratin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Meesmann, 1"	None
Silver-Russell syndrome 1	chromosome 7-related russell-silver syndrome//srs1	IGF2	IGF2	https://raresource.nih.gov/literature/disease/0025253	0025253			C5393125		insulin like growth factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Silver-Russell syndrome 1"	None
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	peob5//progressive external ophthalmoplegia, autosomal recessive 5	TOP3A	TOP3A	https://raresource.nih.gov/literature/disease/0025260	0025260	618098		C4748184		DNA topoisomerase III alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"	None
Intellectual disability, autosomal recessive 64	intellectual developmental disorder, autosomal recessive 64//mental retardation, autosomal recessive 64//mrt64	LINGO1	LINGO1	https://raresource.nih.gov/literature/disease/0025261	0025261	618103		C4748192		leucine rich repeat and Ig domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 64"	None
Osteopetrosis, autosomal dominant 3	opta3	PLEKHM1	PLEKHM1	https://raresource.nih.gov/literature/disease/0025262	0025262	618107		C4748197		pleckstrin homology and RUN domain containing M1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis, autosomal dominant 3"	None
Liddle syndrome 2	liddle syndrome caused by mutation in scnn1g//liddle syndrome, scnn1g-related//lidls2//scnn1g liddle syndrome	SCNN1G	SCNN1G	https://raresource.nih.gov/literature/disease/0025263	0025263	618114		C4748251		sodium channel epithelial 1 subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liddle syndrome 2"	None
Bone marrow failure syndrome 4	bmfs4	MYSM1	MYSM1	https://raresource.nih.gov/literature/disease/0025264	0025264			C4748257		Myb like, SWIRM and MPN domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bone marrow failure syndrome 4"	2
Hereditary persistence of fetal hemoglobin	hb f disease//hpfh - hereditary persistence of fetal hemoglobin	HBB;HBG2;HBG1	HBB;HBG2;HBG1	https://raresource.nih.gov/literature/disease/0025271	0025271			C0019025		hemoglobin subunit beta; hemoglobin subunit gamma 2; hemoglobin subunit gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary persistence of fetal hemoglobin"	283
Benign hereditary chorea	bhc//chorea, benign hereditary//chorea, hereditary benign//hereditary progressive chorea without dementia	NKX2-1	NKX2-1	https://raresource.nih.gov/literature/disease/0025275	0025275			C0393584		NK2 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign hereditary chorea"	121
Familial adenomatous polyposis 1	adenoma, periampullary, somatic//apc-associated polyposis conditions//apc-related adenomatous polyposis//colon cancer (apc i1307k related)//familial adenomatous polyposis 1, attenuated//fap1//polyposis, adenomatous intestinal	APC	APC	https://raresource.nih.gov/literature/disease/0025282	0025282			C2713442		APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial adenomatous polyposis 1"	9
Congenital fibrosis of extraocular muscles type 1	blepharoptosis with absent eye movements//cfeom1//congenital fibrosis of extraocular muscles caused by mutation in kif21a//congenital fibrosis of the extraocular muscles 1a//feom1 locus//fibrosis of extraocular muscles, congenital, 1//kif21a congenital fibrosis of extraocular muscles//kif21a-related congenital fibrosis of the extraocular muscles//ophthalmoplegia, congenital	KIF21A	KIF21A	https://raresource.nih.gov/literature/disease/0025287	0025287			C1851102		kinesin family member 21A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital fibrosis of extraocular muscles type 1"	43
Cranioectodermal dysplasia 1	ced1//cranioectodermal dysplasia caused by mutation in ift122//cranioectodermal dysplasia type 1//ift122 cranioectodermal dysplasia//levin syndrome i	IFT122	IFT122	https://raresource.nih.gov/literature/disease/0025289	0025289			C0432235		intraflagellar transport 122	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia 1"	2
Angioedema, hereditary, 6	hae6	KNG1	KNG1	https://raresource.nih.gov/literature/disease/0025373	0025373	619363		C5543516		kininogen 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angioedema, hereditary, 6"	None
Lymphatic malformation 10	lmphm10	ANGPT2	ANGPT2	https://raresource.nih.gov/literature/disease/0025374	0025374	619369		C5543531		angiopoietin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 10"	None
Bardet-Biedl syndrome 20	bbs20	IFT172	IFT172	https://raresource.nih.gov/literature/disease/0025375	0025375	619471		C4310707		intraflagellar transport 172	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome 20"	None
Oculopharyngodistal myopathy 3	opdm3	NOTCH2NLC	NOTCH2NLC	https://raresource.nih.gov/literature/disease/0025376	0025376	619473		C5561956		notch 2 N-terminal like C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngodistal myopathy 3"	3
Hypothyroidism, congenital, nongoitrous, 2	chng2//congenital hypothyroidism due to thyroid dysgenesis or hypoplasia//hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	PAX8	PAX8	https://raresource.nih.gov/literature/disease/0025378	0025378	218700		C1869118	C566852	paired box 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism, congenital, nongoitrous, 2"	1
Surfactant metabolism dysfunction, pulmonary, 2	desquamative interstitial pneumonitis due to surfactant protein c deficiency//interstitial lung disease due to sp-c (surfactant protein c) deficiency//interstitial lung disease due to surfactant protein c deficiency//pulmonary alveolar proteinosis, congenital, 2//sftpc-related pulmonary surfactant metabolism dysfunction//smdp2	SFTPC	SFTPC	https://raresource.nih.gov/literature/disease/0025399	0025399	610913		C1970470	C567048	surfactant protein C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Surfactant metabolism dysfunction, pulmonary, 2"	None
Adams-Oliver syndrome 1	absence defect of limbs, scalp, and skull//adams-oliver syndrome caused by mutation in arhgap31//aos1//aplasia cutis congenita with terminal transverse limb defects//arhgap31 adams-oliver syndrome	ARHGAP31	ARHGAP31	https://raresource.nih.gov/literature/disease/0025406	0025406			C4551482		Rho GTPase activating protein 31	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome 1"	None
Aniridia 1	an1//aniridia type 1//cataract with late-onset corneal dystrophy	WT1;PAX6	WT1;PAX6	https://raresource.nih.gov/literature/disease/0025407	0025407			C0344542		WT1 transcription factor; paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aniridia 1"	None
SMARCB1-related schwannomatosis	schwannomatosis 1//schwannomatosis, somatic//swnts1	SMARCB1	SMARCB1	https://raresource.nih.gov/literature/disease/0025408	0025408			C4048809		SWI/SNF related BAF chromatin remodeling complex subunit B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SMARCB1-related schwannomatosis"	4
Renal hypodysplasia/aplasia 3	rhda3	GREB1L	GREB1L	https://raresource.nih.gov/literature/disease/0025410	0025410	617805		C4540497		GREB1 like retinoic acid receptor coactivator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypodysplasia/aplasia 3"	3
Dyschromatosis universalis hereditaria 1	duh1	SASH1	SASH1	https://raresource.nih.gov/literature/disease/0025411	0025411			C2675711	C567273	SAM and SH3 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyschromatosis universalis hereditaria 1"	1
Fanconi renotubular syndrome 1	frts1//luder-sheldon syndrome//neonatal de toni-debre-fanconi syndrome//toni-debre-fanconi syndrome	GATM	GATM	https://raresource.nih.gov/literature/disease/0025412	0025412			C4551503		glycine amidinotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi renotubular syndrome 1"	7
Bethlem myopathy 1A	bethlem myopathy 1//myopathy, benign congenital, with contractures	COL6A1	COL6A1	https://raresource.nih.gov/literature/disease/0025413	0025413			CN029274		collagen type VI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bethlem myopathy 1A"	1
Myopathy, tubular aggregate, 1	stim1 tubular aggregate myopathy//tam1//tubular aggregate myopathy caused by mutation in stim1	STIM1	STIM1	https://raresource.nih.gov/literature/disease/0025414	0025414			C4011726		stromal interaction molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, tubular aggregate, 1"	1
Pulmonary hypertension, primary, 1	bmpr2 primary pulmonary hypertension//pph1//primary pulmonary hypertension caused by mutation in bmpr2//pulmonary hypertension, familial primary, 1, with or without hht//pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated	BMPR2	BMPR2	https://raresource.nih.gov/literature/disease/0025415	0025415	178600		C4552070		bone morphogenetic protein receptor type 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary hypertension, primary, 1"	None
Dowling-Degos disease 1	dowling-degos disease caused by mutation in krt5//krt5 dowling-degos disease	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0025416	0025416			C4552092		keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dowling-Degos disease 1"	None
Singleton-Merten syndrome 1	ifih1 singleton-merten dysplasia//sgmrt1//singleton-merten dysplasia caused by mutation in ifih1//syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition//widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness	IFIH1	IFIH1	https://raresource.nih.gov/literature/disease/0025417	0025417			C4225427		interferon induced with helicase C domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Singleton-Merten syndrome 1"	3
Glucocorticoid deficiency 1	adrenal unresponsiveness to acth//familial glucocorticoid deficiency 1//familial glucocorticoid deficiency caused by mutation in mc2r//gccd1//glucocorticoid deficiency, due to acth unresponsiveness//mc2r familial glucocorticoid deficiency	MC2R	MC2R	https://raresource.nih.gov/literature/disease/0025418	0025418			C4049650		melanocortin 2 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucocorticoid deficiency 1"	None
Idiopathic basal ganglia calcification 1	basal ganglia calcification, idiopathic, 1//basal ganglia calcification, idiopathic, 2//basal ganglia calcification, idiopathic, type 1//cerebral calcification nonarteriosclerotic idiopathic adult-onset//fahr disease, familial (formerly)//fahr's syndrome//familial idiopathic basal ganglia calcification//familial idiopathic basal ganglia calcification 2//familial idiopathic basal ganglia calcification 3//ferrocalcinosis, cerebrovascular//ibgc1//ibgc2//primary familial brain calcification 1//primary familial brain calcification 2//primary familial brain calcification 3//striopallidodentate calcinosis autosomal dominant adult-onset	SLC20A2	SLC20A2	https://raresource.nih.gov/literature/disease/0025419	0025419	213600		C4551624	C537657	solute carrier family 20 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic basal ganglia calcification 1"	215
Jervell and Lange-Nielsen syndrome 1	cardioauditory syndrome of jervell and lange-nielsen//deafness, congenital, and functional heart disease//jervell and lange-nielsen syndrome caused by mutation in kcnq1//jlns1//kcnq1 jervell and lange-nielsen syndrome//prolonged qt interval in ekg and sudden death//surdo-cardiac syndrome	KCNQ1	KCNQ1	https://raresource.nih.gov/literature/disease/0025421	0025421			C4551509		potassium voltage-gated channel subfamily Q member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jervell and Lange-Nielsen syndrome 1"	11
Trichohepatoenteric syndrome 1	diarrhea, fatal infantile, with trichorrhexis nodosa//thes1//tricho-hepato-enteric syndrome caused by mutation in ttc37//ttc37 tricho-hepato-enteric syndrome	SKIC3	SKIC3	https://raresource.nih.gov/literature/disease/0025422	0025422			C4551982		SKI3 subunit of superkiller complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichohepatoenteric syndrome 1"	None
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	camrq1//cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1//cerebellar ataxia, congenital, and mental retardation, autosomal recessive//cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1//cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1//cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1//cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1//dysequilibrium syndrome caused by mutation in vldlr//vldlr dysequilibrium syndrome	VLDLR	VLDLR	https://raresource.nih.gov/literature/disease/0025423	0025423			C4551552		very low density lipoprotein receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	2
Brittle cornea syndrome 1	bcs1//brittle cornea syndrome caused by mutation in znf469//corneal fragility keratoglobus, blue sclerae and joint hypermobility//corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility//dysgenesis mesodermalis corneae et sclerae//eds6b//ehlers-danlos syndrome type 6b//fragilitas oculi with joint hyperextensibility//znf469 brittle cornea syndrome	ZNF469	ZNF469	https://raresource.nih.gov/literature/disease/0025424	0025424			C0268344	C536192	zinc finger protein 469	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brittle cornea syndrome 1"	5
Miyoshi muscular dystrophy 1	dysf miyoshi myopathy//miyoshi myopathy caused by mutation in dysf//mmd1	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0025425	0025425			C4551973		dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Miyoshi muscular dystrophy 1"	11
Linear skin defects with multiple congenital anomalies 1	hccs microphthalmia with linear skin defects syndrome//linear skin defects with multiple congenital anomalies 1, x-linked dominant//lsdmca1//microphthalmia with linear skin defect syndrome//microphthalmia with linear skin defects syndrome caused by mutation in hccs//midas syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome	HCCS;NDUFB11;COX7B	HCCS;NDUFB11;COX7B	https://raresource.nih.gov/literature/disease/0025427	0025427			C0796070		holocytochrome c synthase; NADH:ubiquinone oxidoreductase subunit B11; cytochrome c oxidase subunit 7B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear skin defects with multiple congenital anomalies 1"	None
Myopathy, lactic acidosis, and sideroblastic anemia 1	mlasa1//myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in pus1//myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in pus1//pus1 myopathy, lactic acidosis, and sideroblastic anaemia//pus1 myopathy, lactic acidosis, and sideroblastic anemia	PUS1	PUS1	https://raresource.nih.gov/literature/disease/0025428	0025428			C4551958		pseudouridine synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, lactic acidosis, and sideroblastic anemia 1"	2
D-2-hydroxyglutaric aciduria 1	d-2-hydroxyglutaric aciduria caused by mutation in d2hgdh//d2hga1//d2hgdh d-2-hydroxyglutaric aciduria	D2HGDH	D2HGDH	https://raresource.nih.gov/literature/disease/0025429	0025429			C3152055		D-2-hydroxyglutarate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D-2-hydroxyglutaric aciduria 1"	1
Megalencephalic leukoencephalopathy with subcortical cysts 1	mlc1//mlc1-related megalencephalic leukoencephalopathy with subcortical cysts	HEPACAM;MLC1	HEPACAM;MLC1	https://raresource.nih.gov/literature/disease/0025430	0025430			C5779875		hepatic and glial cell adhesion molecule; modulator of VRAC current 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephalic leukoencephalopathy with subcortical cysts 1"	1
Vitelliform macular dystrophy 3	prph2 vitelliform macular dystrophy//prph2-related adult-onset vitelliform macular dystrophy//vitelliform macular dystrophy caused by mutation in prph2//vmd3	PRPH2	PRPH2	https://raresource.nih.gov/literature/disease/0025431	0025431			CN295869		peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vitelliform macular dystrophy 3"	None
Sick sinus syndrome 1	scn5a sick sinus syndrome//sick sinus syndrome caused by mutation in scn5a//sick sinus syndrome, congenital//sinus bradycardia syndrome, familial//sinus node disease, familial, autosomal recessive//sinus rhythm, congenital absence of	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0025432	0025432			C1837845		sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sick sinus syndrome 1"	None
Ectodermal dysplasia-syndactyly syndrome 1	ectodermal dysplasia-syndactyly syndrome caused by mutation in nectin4//edss1//nectin4 ectodermal dysplasia-syndactyly syndrome	NECTIN4	NECTIN4	https://raresource.nih.gov/literature/disease/0025433	0025433			C3150807		nectin cell adhesion molecule 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia-syndactyly syndrome 1"	10
Congenital muscular dystrophy with cataracts and intellectual disability	muscular dystrophy, congenital, with cataracts and impaired intellectual development	INPP5K	INPP5K	https://raresource.nih.gov/literature/disease/0025435	0025435	617404	662184	C4479410		inositol polyphosphate-5-phosphatase K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy with cataracts and intellectual disability"	None
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2	aifbl2//deficiency 1n elf4, x-linked//deficiency in elf4, x-linked	ELF4	ELF4	https://raresource.nih.gov/literature/disease/0025462	0025462	301074	676125	C5575495		E74 like ETS transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory syndrome, familial, X-linked, Behcet-like 2"	9
Myopathy, distal, 7, adult-onset, X-linked	mpd7	SMPX	SMPX	https://raresource.nih.gov/literature/disease/0025463	0025463	301075		C5676880		small muscle protein X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, distal, 7, adult-onset, X-linked"	None
Intellectual developmental disorder, X-linked, syndromic, Pilorge type	mrxsp	GLRA2	GLRA2	https://raresource.nih.gov/literature/disease/0025464	0025464	301076		C5676881		glycine receptor alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked, syndromic, Pilorge type"	None
Dystonia 30	dyt30	VPS16	VPS16	https://raresource.nih.gov/literature/disease/0025479	0025479	619291		C5543312		VPS16 core subunit of CORVET and HOPS complexes	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 30"	None
Leukodystrophy, hypomyelinating, 22	hld22	CLDN11	CLDN11	https://raresource.nih.gov/literature/disease/0025480	0025480	619328		C5543406		claudin 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 22"	2
Angioedema, hereditary, 4	hae4	PLG	PLG	https://raresource.nih.gov/literature/disease/0025481	0025481			C5543503		plasminogen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angioedema, hereditary, 4"	None
Angioedema, hereditary, 7	hae7	MYOF	MYOF	https://raresource.nih.gov/literature/disease/0025482	0025482	619366		C5543526		myoferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angioedema, hereditary, 7"	None
Intellectual developmental disorder, X-linked 108	intellectual developmental disorder, x-linked 108, x-linked recessive//mental retardation, x-linked 108	SLC9A7	SLC9A7	https://raresource.nih.gov/literature/disease/0025483	0025483	301024		C5193009		solute carrier family 9 member A7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked 108"	None
Congenital disorder of glycosylation, type ICC	congenital disorder of glycosylation, type icc, x-linked recessive	MAGT1	MAGT1	https://raresource.nih.gov/literature/disease/0025484	0025484	301031		C5231393		magnesium transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type ICC"	None
Basilicata-Akhtar syndrome	basilicata-akhtar syndrome, x-linked dominant//intellectual developmental disorder, x-linked, syndromic, 36//mental retardation, x-linked, syndromic, basilicata-akhtar type	MSL3	MSL3	https://raresource.nih.gov/literature/disease/0025485	0025485	301032		C5231394		MSL complex subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basilicata-Akhtar syndrome"	5
Hypothyroidism, congenital, nongoitrous, 8		TBL1X	TBL1X	https://raresource.nih.gov/literature/disease/0025486	0025486	301033		C5231395		transducin beta like 1 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism, congenital, nongoitrous, 8"	None
Hypothyroidism, congenital, nongoitrous, 9	hypothyroidism, congenital, nongoitrous, 9, x-linked recessive	IRS4	IRS4	https://raresource.nih.gov/literature/disease/0025487	0025487	301035		C5231396		insulin receptor substrate 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypothyroidism, congenital, nongoitrous, 9"	None
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	intellectual developmental disorder, x-linked, syndromic, hackman-di donato type, x-linked recessive//mental retardation, x-linked, with marfanoid habitus, 2	NKAP	NKAP	https://raresource.nih.gov/literature/disease/0025488	0025488	301039		C5393302		NFKB activating protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"	None
Wieacker-Wolff syndrome, female-restricted	wieacker-wolff syndrome, female-restricted, x-linked dominant//wrwffr	ZC4H2	ZC4H2	https://raresource.nih.gov/literature/disease/0025489	0025489	301041		C5393303		zinc finger C4H2-type containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wieacker-Wolff syndrome, female-restricted"	2
Holoprosencephaly 13, X-linked	holoprosencephaly 13, x-linked, x-linked recessive, x-linked dominant	STAG2	STAG2	https://raresource.nih.gov/literature/disease/0025490	0025490	301043		C5393308		STAG2 cohesin complex component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 13, X-linked"	None
Congenital disorder of glycosylation, type IIr	cdg iir//congenital disorder of glycosylation, type iir, x-linked recessive	ATP6AP2	ATP6AP2	https://raresource.nih.gov/literature/disease/0025491	0025491	301045		C5393313		ATPase H+ transporting accessory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIr"	None
Developmental and epileptic encephalopathy, 85, with or without midline brain defects	dee85, with or without midline brain defects//developmental and epileptic encephalopathy 85, with or without midline brain defects, x-linked dominant//eiee85//epileptic encephalopathy, early infantile, 85, with or without midline brain defects	SMC1A	SMC1A	https://raresource.nih.gov/literature/disease/0025492	0025492	301044		C5393312		structural maintenance of chromosomes 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 85, with or without midline brain defects"	None
Deafness, Y-linked 2	dfny2	TBL1Y	TBL1Y	https://raresource.nih.gov/literature/disease/0025493	0025493	400047		C5193013		transducin beta like 1 Y-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, Y-linked 2"	None
Mitochondrial complex I deficiency, mitochondrial type 1	mc1dm1//mitochondrial complex 1 deficiency, mitochondrial type 1	MT-ND3	MT-ND3	https://raresource.nih.gov/literature/disease/0025494	0025494	500014		C4746992		mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, mitochondrial type 1"	None
Kleefstra syndrome 1		EHMT1	EHMT1	https://raresource.nih.gov/literature/disease/0025497	0025497			C0795833	C563043	euchromatic histone lysine methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kleefstra syndrome 1"	6
Autosomal recessive cutis laxa type 2D	arcl2d//cutis laxa, autosomal recessive, type iid	ATP6V1A	ATP6V1A	https://raresource.nih.gov/literature/disease/0025498	0025498	617403		C4479409		ATPase H+ transporting V1 subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cutis laxa type 2D"	1
Autosomal recessive cutis laxa type 2C	cutis laxa, autosomal recessive, type iic	ATP6V1E1	ATP6V1E1	https://raresource.nih.gov/literature/disease/0025499	0025499	617402		C4479387		ATPase H+ transporting V1 subunit E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cutis laxa type 2C"	None
Congenital anomalies of kidney and urinary tract 2	congenital anomalies of kidney and urinary tract type 2//congenital anomaly of kidney and urinary tract caused by mutation in tbx18//tbx18 congenital anomaly of kidney and urinary tract	TBX18	TBX18	https://raresource.nih.gov/literature/disease/0025500	0025500	143400		C5574705		T-box transcription factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital anomalies of kidney and urinary tract 2"	None
Liddle syndrome 3		SCNN1A	SCNN1A	https://raresource.nih.gov/literature/disease/0025502	0025502	618126		C4748292		sodium channel epithelial 1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liddle syndrome 3"	None
Glycosylphosphatidylinositol biosynthesis defect 18	developmental and epileptic encephalopathy 95	PIGS	PIGS	https://raresource.nih.gov/literature/disease/0025503	0025503	618143		C4748357		phosphatidylinositol glycan anchor biosynthesis class S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycosylphosphatidylinositol biosynthesis defect 18"	None
Usher syndrome, type 4	usher syndrome, type iv	ARSG	ARSG	https://raresource.nih.gov/literature/disease/0025504	0025504	618144		C4748364		arylsulfatase G	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome, type 4"	5
Combined oxidative phosphorylation deficiency 41	coxpd41	GATB	GATB	https://raresource.nih.gov/literature/disease/0025505	0025505	618838		C5394236		glutamyl-tRNA amidotransferase subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 41"	None
Combined oxidative phosphorylation deficiency 42	coxpd42	GATC	GATC	https://raresource.nih.gov/literature/disease/0025506	0025506	618839		C5394237		glutamyl-tRNA amidotransferase subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 42"	None
Muscular dystrophy, limb-girdle, autosomal recessive 26	lgmdr26	POPDC3	POPDC3	https://raresource.nih.gov/literature/disease/0025507	0025507	618848		C5394268		popeye domain cAMP effector 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, limb-girdle, autosomal recessive 26"	1
Bone marrow failure syndrome 6	bmfs6	MDM4	MDM4	https://raresource.nih.gov/literature/disease/0025508	0025508	618849		C5394274		MDM4 regulator of p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bone marrow failure syndrome 6"	None
Combined oxidative phosphorylation deficiency 43	coxpd43	TIMM22	TIMM22	https://raresource.nih.gov/literature/disease/0025509	0025509	618851		C5394284		translocase of inner mitochondrial membrane 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 43"	None
Anauxetic dysplasia 3	anxd3	RMP64	RMP64	https://raresource.nih.gov/literature/disease/0025510	0025510	618853		C5394289		ribonuclease MRP subunit p64	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anauxetic dysplasia 3"	1
Combined oxidative phosphorylation deficiency 44	coxpd44	FASTKD2	FASTKD2	https://raresource.nih.gov/literature/disease/0025511	0025511			C5394293		FAST kinase domains 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 44"	1
Lissencephaly 10	lis10	CEP85L	CEP85L	https://raresource.nih.gov/literature/disease/0025512	0025512	618873		C5394354		centrosomal protein 85 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly 10"	None
Epilepsy, progressive myoclonic, 11	epm11	SEMA6B	SEMA6B	https://raresource.nih.gov/literature/disease/0025513	0025513	618876		C5394362		semaphorin 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, progressive myoclonic, 11"	None
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	glycosylphosphatidylinositol biosynthesis defect 22//nedhcas	PIGK	PIGK	https://raresource.nih.gov/literature/disease/0025514	0025514	618879		C5394372		phosphatidylinositol glycan anchor biosynthesis class K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	None
Congenital disorder of glycosylation, type iit	cdg iit//cdg2t	GALNT2	GALNT2	https://raresource.nih.gov/literature/disease/0025515	0025515	618885		C5394387		polypeptide N-acetylgalactosaminyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type iit"	None
Pseudo-TORCH syndrome 3	ptorch3	STAT2	STAT2	https://raresource.nih.gov/literature/disease/0025516	0025516	618886		C5394391		signal transducer and activator of transcription 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo-TORCH syndrome 3"	None
Harderoporphyria	harpo//homozygous hereditary coproporphyria	CPOX	CPOX	https://raresource.nih.gov/literature/disease/0025517	0025517	618892	659672	C0342859	C562816	coproporphyrinogen oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Harderoporphyria"	16
Neuronopathy, distal hereditary motor, autosomal recessive 8	neuropathy, distal hereditary motor, autosomal recessive 8//sorbitol dehydrogenase deficiency//sorbitol dehydrogenase deficiency with peripheral neuropathy//sordd	SORD	SORD	https://raresource.nih.gov/literature/disease/0025518	0025518	618912		C5394466		sorbitol dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 8"	15
Arrhythmogenic right ventricular dysplasia, familial, 14	arrhythmogenic right ventricular cardiomyopathy 14//arvd14	CDH2	CDH2	https://raresource.nih.gov/literature/disease/0025519	0025519	618920		C5394505		cadherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhythmogenic right ventricular dysplasia, familial, 14"	None
Episodic ataxia, type 9	ea9	SCN2A	SCN2A	https://raresource.nih.gov/literature/disease/0025520	0025520	618924		C5394520		sodium voltage-gated channel alpha subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic ataxia, type 9"	1
Hyper-IgE recurrent infection syndrome 5, autosomal recessive	hies5//hyper-ige syndrome 5, autosomal recessive, with recurrent infections	IL6R	IL6R	https://raresource.nih.gov/literature/disease/0025521	0025521			C5394550		interleukin 6 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgE recurrent infection syndrome 5, autosomal recessive"	None
Heterotaxy, visceral, 9, autosomal, with male infertility	htx9	MNS1	MNS1	https://raresource.nih.gov/literature/disease/0025522	0025522	618948		C5394551		meiosis specific nuclear structural 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 9, autosomal, with male infertility"	None
Mitchell syndrome	acox1 upregulation//mitch	ACOX1	ACOX1	https://raresource.nih.gov/literature/disease/0025523	0025523	618960	631248	C5394554		acyl-CoA oxidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitchell syndrome"	11
Leukodystrophy, hypomyelinating, 21	hld21	POLR3K	POLR3K	https://raresource.nih.gov/literature/disease/0025525	0025525	619310		C5543334		RNA polymerase III subunit K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 21"	None
Developmental and epileptic encephalopathy 6B	dee6b//developmental and epileptic encephalopathy 6b, non-dravet	SCN1A	SCN1A	https://raresource.nih.gov/literature/disease/0025526	0025526	619317		C5543353		sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 6B"	1
Lymphatic malformation 9	lmphm9	CELSR1	CELSR1	https://raresource.nih.gov/literature/disease/0025527	0025527			C5543365		cadherin EGF LAG seven-pass G-type receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 9"	None
Arthrogryposis multiplex congenita 6	amc6	NEB	NEB	https://raresource.nih.gov/literature/disease/0025528	0025528	619334		C5543431		nebulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 6"	1
Angioedema, hereditary, 5	hae5	ANGPT1	ANGPT1	https://raresource.nih.gov/literature/disease/0025529	0025529	619361		C5543508		angiopoietin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angioedema, hereditary, 5"	None
Angioedema, hereditary, 8	hae8	HS3ST6	HS3ST6	https://raresource.nih.gov/literature/disease/0025530	0025530	619367		C5543528		heparan sulfate-glucosamine 3-sulfotransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angioedema, hereditary, 8"	None
Cardiomyopathy, dilated, 2D	cmd2d	RPL3L	RPL3L	https://raresource.nih.gov/literature/disease/0025531	0025531	619371		C5543535		ribosomal protein L3 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2D"	2
Combined oxidative phosphorylation deficiency 52	coxpd52	NFS1	NFS1	https://raresource.nih.gov/literature/disease/0025533	0025533	619386		C5543592		NFS1 cysteine desulfurase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 52"	None
Spinocerebellar ataxia, autosomal recessive 29	barakat-van ham-kaya syndrome//neurodevelopmental disorder with hypotonia and cerebellar ataxia//scar29	VPS41	VPS41	https://raresource.nih.gov/literature/disease/0025534	0025534	619389		C5543595		VPS41 subunit of HOPS complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 29"	None
Lymphatic malformation 11	lmphm11	TIE1	TIE1	https://raresource.nih.gov/literature/disease/0025535	0025535	619401		C5543614		tyrosine kinase with immunoglobulin like and EGF like domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 11"	None
Cardiomyopathy, familial hypertrophic, 28	cmh28	FHOD3	FHOD3	https://raresource.nih.gov/literature/disease/0025536	0025536	619402		C5543616		formin homology 2 domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial hypertrophic, 28"	None
Spinocerebellar ataxia, autosomal recessive 30	scar30	PITRM1	PITRM1	https://raresource.nih.gov/literature/disease/0025537	0025537	619405		C5543620		pitrilysin metallopeptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 30"	None
Spinocerebellar ataxia, autosomal recessive 31	scar31	ATG7	ATG7	https://raresource.nih.gov/literature/disease/0025538	0025538	619422		C5543627		autophagy related 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 31"	None
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)	mtdps16b	POLG2	POLG2	https://raresource.nih.gov/literature/disease/0025539	0025539	619425		C5543632		DNA polymerase gamma 2, accessory subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)"	None
Cardiomyopathy, familial restrictive, 6	rcm6	KIF20A	KIF20A	https://raresource.nih.gov/literature/disease/0025540	0025540	619433		C5543638		kinesin family member 20A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial restrictive, 6"	None
Ritscher-Schinzel syndrome 4	rtsc4	DPYSL5	DPYSL5	https://raresource.nih.gov/literature/disease/0025541	0025541	619435		C5561939		dihydropyrimidinase like 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ritscher-Schinzel syndrome 4"	None
Ciliary dyskinesia, primary, 46	cild46	STK36	STK36	https://raresource.nih.gov/literature/disease/0025542	0025542	619436		C5543646		serine/threonine kinase 36	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 46"	None
Cutis laxa, autosomal recessive, type 2E	arcl2e//cutis laxa, autosomal recessive, type iie	LTBP1	LTBP1	https://raresource.nih.gov/literature/disease/0025543	0025543	619451		C5561944		latent transforming growth factor beta binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal recessive, type 2E"	None
Microcephaly 28, primary, autosomal recessive	mcph28	RRP7A	RRP7A	https://raresource.nih.gov/literature/disease/0025544	0025544	619453		C5562069		ribosomal RNA processing 7 homolog A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 28, primary, autosomal recessive"	None
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	cms7b	SYT2	SYT2	https://raresource.nih.gov/literature/disease/0025545	0025545	619461		C5561947		synaptotagmin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive"	None
Ciliary dyskinesia, primary, 47, and lissencephaly	cild47	TP73	TP73	https://raresource.nih.gov/literature/disease/0025546	0025546	619466		C5561951		tumor protein p73	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 47, and lissencephaly"	None
Joubert syndrome 38	jbts38	KIAA0753	KIAA0753	https://raresource.nih.gov/literature/disease/0025547	0025547	619476		C5561958		KIAA0753	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 38"	None
Facioscapulohumeral muscular dystrophy 3, digenic	fshd3	LRIF1	LRIF1	https://raresource.nih.gov/literature/disease/0025548	0025548	619477		C5561959		ligand dependent nuclear receptor interacting factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facioscapulohumeral muscular dystrophy 3, digenic"	None
Facioscapulohumeral muscular dystrophy 4, digenic	facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant//fshd4	DNMT3B	DNMT3B	https://raresource.nih.gov/literature/disease/0025549	0025549	619478		C5561960		DNA methyltransferase 3 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facioscapulohumeral muscular dystrophy 4, digenic"	None
Short-rib thoracic dysplasia 21 without polydactyly	srtd21	KIAA0753	KIAA0753	https://raresource.nih.gov/literature/disease/0025550	0025550	619479		C5561961		KIAA0753	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 21 without polydactyly"	None
Cholestasis, progressive familial intrahepatic, 6	pfic6	SLC51A	SLC51A	https://raresource.nih.gov/literature/disease/0025551	0025551	619484		C5561965		solute carrier family 51 member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 6"	1
Aicardi-Goutieres syndrome 8	ags8	LSM11	LSM11	https://raresource.nih.gov/literature/disease/0025552	0025552	619486		C5551352		LSM11, U7 small nuclear RNA associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 8"	None
Aicardi-Goutieres syndrome 9	ags9	RNU7-1	RNU7-1	https://raresource.nih.gov/literature/disease/0025553	0025553	619487		C5561966		RNA, U7 small nuclear 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutieres syndrome 9"	None
Cardiomyopathy, dilated, 2E	cmd2e	JPH2	JPH2	https://raresource.nih.gov/literature/disease/0025554	0025554	619492		C5561970		junctophilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2E"	None
Martsolf syndrome 2	marts2	RAB3GAP1	RAB3GAP1	https://raresource.nih.gov/literature/disease/0025555	0025555	619420		C5543626		RAB3 GTPase activating protein catalytic subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Martsolf syndrome 2"	None
Combined oxidative phosphorylation deficiency 53	combined oxidative phosphorylation deficiency due to c2orf69 deficiency//coxpd53//elbracht-isikay syndrome//global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation	C2orf69	C2orf69	https://raresource.nih.gov/literature/disease/0025556	0025556	619423		C5543631		chromosome 2 open reading frame 69	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 53"	1
Congenital disorder of glycosylation, type 2v	cdg2v	EDEM3	EDEM3	https://raresource.nih.gov/literature/disease/0025557	0025557	619493		C5561971		ER degradation enhancing alpha-mannosidase like protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type 2v"	None
Charcot-Marie-Tooth disease, axonal, type 2FF	charcot-marie-tooth neuropathy, type 2ff//cmt2ff	CADM3	CADM3	https://raresource.nih.gov/literature/disease/0025558	0025558	619519		C5561981		cell adhesion molecule 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, axonal, type 2FF"	None
Anemia, sideroblastic, 5	sidba5	HSCB	HSCB	https://raresource.nih.gov/literature/disease/0025559	0025559	619523		C5561985		HscB mitochondrial iron-sulfur cluster cochaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anemia, sideroblastic, 5"	None
Congenital disorder of glycosylation, type IIw	cdg2w	SLC37A4	SLC37A4	https://raresource.nih.gov/literature/disease/0025560	0025560	619525		C5561986		solute carrier family 37 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIw"	None
Pontocerebellar hypoplasia, type 16	pch16	MINPP1	MINPP1	https://raresource.nih.gov/literature/disease/0025561	0025561	619527		C5561987		multiple inositol-polyphosphate phosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, type 16"	None
Cone-rod dystrophy 22	cord22	TLCD3B	TLCD3B	https://raresource.nih.gov/literature/disease/0025562	0025562	619531		C5561989		TLC domain containing 3B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 22"	None
Developmental and epileptic encephalopathy 97	dee97	CELF2	CELF2	https://raresource.nih.gov/literature/disease/0025564	0025564	619561		C5561999		CUGBP Elav-like family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 97"	None
Joubert syndrome 39	jbts39	TMEM218	TMEM218	https://raresource.nih.gov/literature/disease/0025565	0025565	619562		C5562000		transmembrane protein 218	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 39"	None
Dystonia 31	dyt31//zech-boesch syndrome	AOPEP	AOPEP	https://raresource.nih.gov/literature/disease/0025566	0025566	619565		C5562001		aminopeptidase O (putative)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 31"	1
Muscular dystrophy, limb-girdle, autosomal recessive 27	lgmdr27	JAG2	JAG2	https://raresource.nih.gov/literature/disease/0025567	0025567	619566		C5562002		jagged canonical Notch ligand 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, limb-girdle, autosomal recessive 27"	None
Charcot-Marie-Tooth disease, axonal, Type 2HH	charcot-marie-tooth neuropathy, type 2hh//cmt2hh	JAG1	JAG1	https://raresource.nih.gov/literature/disease/0025568	0025568	619574		C5562003		jagged canonical Notch ligand 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, axonal, Type 2HH"	None
Joubert syndrome 40	jbts40	IFT74	IFT74	https://raresource.nih.gov/literature/disease/0025569	0025569	619582		C5562007		intraflagellar transport 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 40"	None
Galloway-Mowat syndrome 9	gamos9	GON7	GON7	https://raresource.nih.gov/literature/disease/0025570	0025570	619603		C5562016		GON7 subunit of KEOPS complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 9"	None
Developmental and epileptic encephalopathy 98	dee98	ATP1A2	ATP1A2	https://raresource.nih.gov/literature/disease/0025571	0025571	619605		C5562017		ATPase Na+/K+ transporting subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 98"	1
Developmental and epileptic encephalopathy 99	dee99	ATP1A3	ATP1A3	https://raresource.nih.gov/literature/disease/0025572	0025572	619606		C5562018		ATPase Na+/K+ transporting subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 99"	None
Heterotaxy, visceral, 10, autosomal, with male infertility	htx10	CFAP52	CFAP52	https://raresource.nih.gov/literature/disease/0025573	0025573	619607		C5562072		cilia and flagella associated protein 52	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 10, autosomal, with male infertility"	None
Heterotaxy, visceral, 11, autosomal, with male infertility	htx11	CFAP45	CFAP45	https://raresource.nih.gov/literature/disease/0025574	0025574	619608		C5562019		cilia and flagella associated protein 45	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 11, autosomal, with male infertility"	None
Galloway-Mowat syndrome 10	gamos10	YRDC	YRDC	https://raresource.nih.gov/literature/disease/0025575	0025575	619609		C5562020		yrdC N6-threonylcarbamoyltransferase domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome 10"	None
Hearing loss, autosomal recessive 119	deafness, autosomal recessive 119//dfnb119	AFG2B	AFG2B	https://raresource.nih.gov/literature/disease/0025576	0025576	619615		C5562023		AFG2 AAA ATPase homolog B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 119"	None
Spastic paraplegia 84, autosomal recessive	autosomal recessive spastic paraplegia type 84//spg84	PI4KA	PI4KA	https://raresource.nih.gov/literature/disease/0025577	0025577	619621	631079	C5562025		phosphatidylinositol 4-kinase alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 84, autosomal recessive"	None
Dystonia 32	dyt32	VPS11	VPS11	https://raresource.nih.gov/literature/disease/0025578	0025578	619637		C5562029		VPS11 core subunit of CORVET and HOPS complexes	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 32"	None
Spondylometaphyseal dysplasia, pagnamenta type	smdp	PRKG2	PRKG2	https://raresource.nih.gov/literature/disease/0025579	0025579	619638		C5562030		protein kinase cGMP-dependent 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia, pagnamenta type"	1
Epidermolysis bullosa simplex 2A, generalized severe	ebs2a//epidermolysis bullosa simplex 2, dowling-meara type//epidermolysis bullosa simplex 2, generalized severe//epidermolysis bullosa simplex 2, severe	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0025580	0025580	619555		CN301077		keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 2A, generalized severe"	None
Loeys-Dietz syndrome 6	lds6	SMAD2	SMAD2	https://raresource.nih.gov/literature/disease/0025581	0025581	619656		C5562041		SMAD family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-Dietz syndrome 6"	None
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	pfic7	USP53	USP53	https://raresource.nih.gov/literature/disease/0025583	0025583	619658		C5562043		ubiquitin specific peptidase 53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss"	None
Cholestasis, progressive familial intrahepatic, 8	pfic8	KIF12	KIF12	https://raresource.nih.gov/literature/disease/0025584	0025584	619662		C5562045		kinesin family member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 8"	1
Ovarian dysgenesis 9	odg9	SPIDR	SPIDR	https://raresource.nih.gov/literature/disease/0025585	0025585	619665		C5562046		scaffold protein involved in DNA repair	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 9"	None
Spastic paraplegia 85, autosomal recessive	autosomal recessive spastic paraplegia type 85//spg85	RNF170	RNF170	https://raresource.nih.gov/literature/disease/0025586	0025586	619686	631082	C5562053		ring finger protein 170	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 85, autosomal recessive"	None
Dystonia 33	dyt33	EIF2AK2	EIF2AK2	https://raresource.nih.gov/literature/disease/0025587	0025587	619687		C5562054		eukaryotic translation initiation factor 2 alpha kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 33"	None
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	hld23	RNF220	RNF220	https://raresource.nih.gov/literature/disease/0025588	0025588	619688		C5562074		ring finger protein 220	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"	None
Trichothiodystrophy 8, nonphotosensitive	ttd8	AARS1	AARS1	https://raresource.nih.gov/literature/disease/0025589	0025589	619691		C5562057		alanyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 8, nonphotosensitive"	None
Trichothiodystrophy 9, nonphotosensitive	ttd9	MARS1	MARS1	https://raresource.nih.gov/literature/disease/0025590	0025590	619692		C5562058		methionyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy 9, nonphotosensitive"	None
Agammaglobulinemia 9, autosomal recessive	agammaglobulinemia, autosomal recessive, due to slc39a7 defect//agm9	SLC39A7	SLC39A7	https://raresource.nih.gov/literature/disease/0025591	0025591	619693		C5562059		solute carrier family 39 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 9, autosomal recessive"	None
Mucopolysaccharidosis, type 10	arsk deficiency//arylsulfatase k deficiency//mps10	ARSK	ARSK	https://raresource.nih.gov/literature/disease/0025592	0025592	619698	662216	C5562064		arylsulfatase family member K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis, type 10"	4
Epidermolysis bullosa simplex 2B, generalized intermediate	ebs2b//epidermolysis bullosa simplex 2b, koebner type	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0025593	0025593	619588		C5562009		keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 2B, generalized intermediate"	None
Epidermolysis bullosa simplex 2C, localized	ebs2c//epidermolysis bullosa simplex 2c, weber-cockayne type	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0025594	0025594	619594		C5562011		keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 2C, localized"	None
Agammaglobulinemia 10, autosomal dominant	agammaglobulinemia, autosomal dominant, due to spi1 defect//agm10	SPI1	SPI1	https://raresource.nih.gov/literature/disease/0025595	0025595	619707		C5676900		Spi-1 proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 10, autosomal dominant"	None
Intellectual developmental disorder, autosomal recessive 73	mrt73	NAA20	NAA20	https://raresource.nih.gov/literature/disease/0025596	0025596	619717		C5676902		N-alpha-acetyltransferase 20, NatB catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 73"	None
Hypogonadotropic hypogonadism 26 with or without anosmia	hh26	TCF12	TCF12	https://raresource.nih.gov/literature/disease/0025597	0025597	619718		C5676903		transcription factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 26 with or without anosmia"	None
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	ebs2d	KRT5	KRT5	https://raresource.nih.gov/literature/disease/0025598	0025598	619599		C5562014		keratin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"	None
Dystonia 34, myoclonic	dyt34	KCNN2	KCNN2	https://raresource.nih.gov/literature/disease/0025599	0025599	619724		C5676907		potassium calcium-activated channel subfamily N member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 34, myoclonic"	None
Combined oxidative phosphorylation deficiency 54	coxpd54	PRORP	PRORP	https://raresource.nih.gov/literature/disease/0025600	0025600	619737		C5676912		protein only RNase P catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 54"	1
Hearing loss, autosomal dominant 81	deafness, autosomal dominant 81//dfna81	ELMOD3	ELMOD3	https://raresource.nih.gov/literature/disease/0025601	0025601	619500		C5561972		ELMO domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 81"	None
Acromesomelic dysplasia 4	amd4	PRKG2	PRKG2	https://raresource.nih.gov/literature/disease/0025602	0025602	619636		C5562028		protein kinase cGMP-dependent 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromesomelic dysplasia 4"	None
Retinitis pigmentosa 92	rp92	HKDC1	HKDC1	https://raresource.nih.gov/literature/disease/0025604	0025604	619614		C5562022		hexokinase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 92"	None
Spastic paraplegia 86, autosomal recessive	autosomal recessive spastic paraplegia type 86//spg86	ABHD16A	ABHD16A	https://raresource.nih.gov/literature/disease/0025605	0025605	619735	631085	C5676910		abhydrolase domain containing 16A, phospholipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 86, autosomal recessive"	None
Parkinsonism-dystonia 3, childhood-onset	pkdys3	WARS2	WARS2	https://raresource.nih.gov/literature/disease/0025606	0025606	619738		C5676913		tryptophanyl tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinsonism-dystonia 3, childhood-onset"	None
Charcot-Marie-Tooth disease, demyelinating, IIA 1I	charcot-marie-tooth disease neuropathy, iia 1i//charcot-marie-tooth disease, demyelinating, type 1i//charcot-marie-tooth neuropathy, type 1i//cmt1i	POLR3B	POLR3B	https://raresource.nih.gov/literature/disease/0025607	0025607	619742		C5676914		RNA polymerase III subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, demyelinating, IIA 1I"	1
Noonan syndrome 14	ns14	SPRED2	SPRED2	https://raresource.nih.gov/literature/disease/0025608	0025608	619745		C5676916		sprouty related EVH1 domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome 14"	None
Cardiomyopathy, dilated, 2F	cmd2f	BAG5	BAG5	https://raresource.nih.gov/literature/disease/0025609	0025609	619747		C5676917		BAG cochaperone 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2F"	None
Immunodeficiency 94 with autoinflammation and dysmorphic facies	imd94	IL6ST	IL6ST	https://raresource.nih.gov/literature/disease/0025610	0025610	619750		C5676918		interleukin 6 cytokine family signal transducer	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 94 with autoinflammation and dysmorphic facies"	None
Hypogonadotropic hypogonadism 27 without anosmia	hh27	NHLH2	NHLH2	https://raresource.nih.gov/literature/disease/0025611	0025611	619755		C5676921		nescient helix-loop-helix 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 27 without anosmia"	None
Charcot-Marie-Tooth disease, demyelinating, IIA 1H	charcot-marie-tooth disease, demyelinating, type 1h//charcot-marie-tooth neuropathy, iia 1h//charcot-marie-tooth neuropathy, type 1h//cmt1h//hereditary motor and sensory neuropathy, 1h//hereditary motor and sensory neuropathy, ih//neuropathy, hereditary, with or without age-related macular degeneration	FBLN5	FBLN5	https://raresource.nih.gov/literature/disease/0025612	0025612	619764		C5676926		fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, demyelinating, IIA 1H"	None
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	pfbmft6//pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6	RPA1	RPA1	https://raresource.nih.gov/literature/disease/0025613	0025613	619767		C5676927		replication protein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6"	None
Developmental and epileptic encephalopathy 100	dee100	FBXO28	FBXO28	https://raresource.nih.gov/literature/disease/0025614	0025614	619777		C5676932		F-box protein 28	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 100"	None
Mitochondrial DNA depletion syndrome 20 (mngie type)	mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related//mtdps20	LIG3	LIG3	https://raresource.nih.gov/literature/disease/0025615	0025615	619780		C5676934		DNA ligase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 20 (mngie type)"	None
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive	anemia, congenital dyserythropoietic, iia iiib, autosomal recessive//cda, iia iiib//cda, type iiib//cdan3b	RACGAP1	RACGAP1	https://raresource.nih.gov/literature/disease/0025619	0025619	619789		C5676940		Rac GTPase activating protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive"	None
Oculopharyngodistal myopathy 4	opdm4	RILPL1	RILPL1	https://raresource.nih.gov/literature/disease/0025620	0025620	619790		C5676941		Rab interacting lysosomal protein like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngodistal myopathy 4"	3
Osteogenesis imperfecta, IIA 22	oi22//osteogenesis imperfecta, type 22//osteogenesis imperfecta, type xxii	CCDC134	CCDC134	https://raresource.nih.gov/literature/disease/0025621	0025621	619795		C5676943		coiled-coil domain containing 134	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, IIA 22"	1
Hearing loss, autosomal dominant 82	deafness, autosomal dominant 82//dfna82	ATP2B2	ATP2B2	https://raresource.nih.gov/literature/disease/0025622	0025622	619804		C5676948		ATPase plasma membrane Ca2+ transporting 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 82"	None
Hearing loss, autosomal dominant 83	deafness, autosomal dominant 83//dfna83	MAP1B	MAP1B	https://raresource.nih.gov/literature/disease/0025623	0025623	619808		C5676951		microtubule associated protein 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 83"	None
Hearing loss, autosomal dominant 84	deafness, autosomal dominant 84//dfna84	ATP11A	ATP11A	https://raresource.nih.gov/literature/disease/0025624	0025624	619810		C5676952		ATPase phospholipid transporting 11A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 84"	None
Neutropenia, severe congenital, 9, autosomal dominant	scn9	CLPB	CLPB	https://raresource.nih.gov/literature/disease/0025625	0025625	619813		C5676954		ClpB family mitochondrial disaggregase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutropenia, severe congenital, 9, autosomal dominant"	None
Developmental and epileptic encephalopathy 101	dee101	GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0025626	0025626	619814		C5676955		glutamate ionotropic receptor NMDA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 101"	None
Aortic aneurysm, familial thoracic 12	aat12	THSD4	THSD4	https://raresource.nih.gov/literature/disease/0025627	0025627	619825		C5676959		thrombospondin type 1 domain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 12"	None
Ovarian dysgenesis 10	odg10	ZSWIM7	ZSWIM7	https://raresource.nih.gov/literature/disease/0025628	0025628	619834		C5676966		zinc finger SWIM-type containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 10"	None
Epidermolysis bullosa, junctional 2A, intermediate	epidermolysis bullosa, junctional 2a, generalised intermediate//epidermolysis bullosa, junctional 2a, generalized intermediate//epidermolysis bullosa, junctional 2a, non-herlitz iia//epidermolysis bullosa, junctional 2a, non-herlitz type//jeb2a	LAMA3	LAMA3	https://raresource.nih.gov/literature/disease/0025629	0025629	619783		C5676936		laminin subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 2A, intermediate"	None
Epidermolysis bullosa, junctional 2B, severe	epidermolysis bullosa, junctional 2b, generalised severe//epidermolysis bullosa, junctional 2b, generalized severe//epidermolysis bullosa, junctional 2b, herlitz iia//epidermolysis bullosa, junctional 2b, herlitz type//jeb2b	LAMA3	LAMA3	https://raresource.nih.gov/literature/disease/0025630	0025630	619784		C5676937		laminin subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 2B, severe"	None
Epidermolysis bullosa, junctional 3A, intermediate	epidermolysis bullosa, junctional 3a, generalised intermediate//epidermolysis bullosa, junctional 3a, generalized intermediate//epidermolysis bullosa, junctional 3a, non-herlitz iia//epidermolysis bullosa, junctional 3a, non-herlitz type//jeb3a	LAMC2	LAMC2	https://raresource.nih.gov/literature/disease/0025631	0025631	619785		C5676938		laminin subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 3A, intermediate"	None
Epidermolysis bullosa, junctional 3B, severe	epidermolysis bullosa, junctional 3b, generalised severe//epidermolysis bullosa, junctional 3b, generalized severe//epidermolysis bullosa, junctional 3b, herlitz iia//epidermolysis bullosa, junctional 3b, herlitz type//jeb3b	LAMC2	LAMC2	https://raresource.nih.gov/literature/disease/0025632	0025632	619786		C5676939		laminin subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 3B, severe"	None
Epidermolysis bullosa, junctional 4, intermediate	epidermolysis bullosa, generalised atrophic benign//epidermolysis bullosa, generalized atrophic benign//epidermolysis bullosa, junctional 4, non-herlitz iia//epidermolysis bullosa, junctional 4, non-herlitz type//epidermolysis bullosa, junctional, localisata variant//jeb4	COL17A1	COL17A1	https://raresource.nih.gov/literature/disease/0025633	0025633			C2608084		collagen type XVII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 4, intermediate"	None
Epidermolysis bullosa, junctional 5A, intermediate	epidermolysis bullosa, junctional 5a, generalised intermediate//epidermolysis bullosa, junctional 5a, generalized intermediate//epidermolysis bullosa, junctional 5a, non-herlitz iia//epidermolysis bullosa, junctional 5a, non-herlitz type//jeb5a	ITGB4	ITGB4	https://raresource.nih.gov/literature/disease/0025634	0025634	619816		C5676956		integrin subunit beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 5A, intermediate"	None
Congenital disorder of deglycosylation 2	cddg2	MAN2C1	MAN2C1	https://raresource.nih.gov/literature/disease/0025635	0025635	619775		C5676931		mannosidase alpha class 2C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of deglycosylation 2"	None
Restrictive dermopathy 2	restrictive dermopathy 2, lethal//rsdm2	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0025636	0025636	619793		C5676942		lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Restrictive dermopathy 2"	None
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	mrt75	PIDD1	PIDD1	https://raresource.nih.gov/literature/disease/0025637	0025637	619827		C5676961		p53-induced death domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly"	None
Retinitis pigmentosa 93	cc2d2a retinitis pigmentosa 93//rp93	CC2D2A	CC2D2A	https://raresource.nih.gov/literature/disease/0025638	0025638	619845		C5676970		coiled-coil and C2 domain containing 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 93"	None
Cholestasis, progressive familial intrahepatic, 9	pfic9	ZFYVE19	ZFYVE19	https://raresource.nih.gov/literature/disease/0025639	0025639	619849		C5676973		zinc finger FYVE-type containing 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 9"	None
Spinocerebellar ataxia 49	sca49	SAMD9L	SAMD9L	https://raresource.nih.gov/literature/disease/0025640	0025640	619806	631106	C5676950		sterile alpha motif domain containing 9 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 49"	None
Cholestasis, progressive familial intrahepatic, 10	pfic10	MYO5B	MYO5B	https://raresource.nih.gov/literature/disease/0025641	0025641			C5676981		myosin VB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 10"	None
Cholestasis, progressive familial intrahepatic, 11	pfic11	SEMA7A	SEMA7A	https://raresource.nih.gov/literature/disease/0025642	0025642	619874		C5676985		semaphorin 7A (JohnMiltonHagen blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 11"	None
Meckel syndrome 14	mks14	TXNDC15	TXNDC15	https://raresource.nih.gov/literature/disease/0025643	0025643	619879		C5676989		thioredoxin domain containing 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome 14"	None
Renal hypodysplasia/aplasia 4	rhda4	GFRA1	GFRA1	https://raresource.nih.gov/literature/disease/0025644	0025644	619887		C5676993		GDNF family receptor alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal hypodysplasia/aplasia 4"	None
Macrothrombocytopenia, isolated, 2, autosomal dominant	macthc2	TUBA8	TUBA8	https://raresource.nih.gov/literature/disease/0025645	0025645	619840		C5676968		tubulin alpha 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrothrombocytopenia, isolated, 2, autosomal dominant"	None
Osteogenesis imperfecta, type 21	oi21//osteogenesis imperfecta 21//osteogenesis imperfecta, type xxi	KDELR2	KDELR2	https://raresource.nih.gov/literature/disease/0025646	0025646	619131		C5436875		KDEL endoplasmic reticulum protein retention receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type 21"	None
Premature ovarian failure 17	pof17	XRCC2	XRCC2	https://raresource.nih.gov/literature/disease/0025647	0025647	619146		C5436889		X-ray repair cross complementing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 17"	None
Mandibuloacral dysplasia progeroid syndrome	mandibuloacral dysplasia associated to mtx2//mdps	MTX2	MTX2	https://raresource.nih.gov/literature/disease/0025648	0025648	619127	647667	C5436867		metaxin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibuloacral dysplasia progeroid syndrome"	10
Developmental and epileptic encephalopathy 102	dee102	SLC38A3	SLC38A3	https://raresource.nih.gov/literature/disease/0025649	0025649	619881		C5676991		solute carrier family 38 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 102"	None
Carpal tunnel syndrome 2	cts2	COMP	COMP	https://raresource.nih.gov/literature/disease/0025650	0025650	619161		C5436916		cartilage oligomeric matrix protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carpal tunnel syndrome 2"	None
Holoprosencephaly 14	hpe14	PLCH1	PLCH1	https://raresource.nih.gov/literature/disease/0025651	0025651	619895		C5676994		phospholipase C eta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 14"	None
Cardiomyopathy, dilated, 2G	cmd2g	LMOD2	LMOD2	https://raresource.nih.gov/literature/disease/0025652	0025652	619897		C5676995		leiomodin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2G"	None
Pontocerebellar hypoplasia, IIA 17	pch17//pontocerebellar hypoplasia, type 17	PRDM13	PRDM13	https://raresource.nih.gov/literature/disease/0025653	0025653	619909		C5676999		PR/SET domain 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia, IIA 17"	None
Immunodeficiency 76	combined immunodeficiency due to fcho1 deficiency//imd76//immunodeficiency due to fcho1 deficiency	FCHO1	FCHO1	https://raresource.nih.gov/literature/disease/0025655	0025655	619164	647804	C5543004		FCH and mu domain containing endocytic adaptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 76"	None
Intellectual disability, X-linked 106	intellectual developmental disorder, x-linked 106//intellectual developmental disorder, x-linked 106, x-linked recessive//mental retardation, x-linked 106	OGT	OGT	https://raresource.nih.gov/literature/disease/0025656	0025656	300997		C4478379		O-linked N-acetylglucosamine (GlcNAc) transferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked 106"	None
Intellectual disability, X-linked, syndromic, 35	intellectual developmental disorder, x-linked, syndromic, 35, x-linked recessive//mrxs35	RPL10	RPL10	https://raresource.nih.gov/literature/disease/0025657	0025657	300998		C4478383		ribosomal protein L10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, X-linked, syndromic, 35"	1
Intellectual disability, autosomal dominant 45	intellectual developmental disorder, autosomal dominant 45//mental retardation, autosomal dominant 45	CIC	CIC	https://raresource.nih.gov/literature/disease/0025658	0025658	617600		C4539848		capicua transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 45"	None
Intellectual disability, autosomal dominant 46	intellectual developmental disorder, autosomal dominant 46//mental retardation, autosomal dominant 46	KCNQ5	KCNQ5	https://raresource.nih.gov/literature/disease/0025659	0025659	617601		C4539851		potassium voltage-gated channel subfamily Q member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 46"	None
Intellectual disability, autosomal recessive 61	alwadei syndrome//intellectual developmental disorder, autosomal recessive 61//mental retardation, autosomal recessive 61	RUSC2	RUSC2	https://raresource.nih.gov/literature/disease/0025660	0025660	617773		C4540424		RUN and SH3 domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 61"	None
Intellectual disability, autosomal dominant 50	intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities//intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities//mental retardation, autosomal dominant 50	NAA15	NAA15	https://raresource.nih.gov/literature/disease/0025661	0025661	617787		C4540470		N-alpha-acetyltransferase 15, NatA auxiliary subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 50"	None
Intellectual disability, autosomal dominant 51	intellectual developmental disorder, autosomal dominant 51//mental retardation, autosomal dominant 51	KMT5B	KMT5B	https://raresource.nih.gov/literature/disease/0025662	0025662	617788	684226	C4540474		lysine methyltransferase 5B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 51"	1
Myofibrillar myopathy 11	mfm11//myopathy, congenital, with eccentric cores	UNC45B	UNC45B	https://raresource.nih.gov/literature/disease/0025664	0025664	619178		C5543038		unc-45 myosin chaperone B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 11"	None
Epilepsy, progressive myoclonic, 12	epm12	SLC7A6OS	SLC7A6OS	https://raresource.nih.gov/literature/disease/0025665	0025665	619191		C5543069		solute carrier family 7 member 6 opposite strand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, progressive myoclonic, 12"	None
Premature ovarian failure 18	pof18	C14orf39	C14orf39	https://raresource.nih.gov/literature/disease/0025666	0025666	619203		C5543095		chromosome 14 open reading frame 39	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 18"	None
Developmental and epileptic encephalopathy 103	dee103	KCNC2	KCNC2	https://raresource.nih.gov/literature/disease/0025667	0025667	619913		C5677002		potassium voltage-gated channel subfamily C member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 103"	None
Dystonia 35, childhood-onset	dyt35	SHQ1	SHQ1	https://raresource.nih.gov/literature/disease/0025668	0025668	619921		C5677003		SHQ1, H/ACA ribonucleoprotein assembly factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 35, childhood-onset"	None
Intellectual developmental disorder, autosomal recessive 76	mental retardation, autosomal recessive 76//mrt76	GRIA1	GRIA1	https://raresource.nih.gov/literature/disease/0025669	0025669	619931		C5677007		glutamate ionotropic receptor AMPA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 76"	None
Premature ovarian failure 20	pof20	MSH4	MSH4	https://raresource.nih.gov/literature/disease/0025670	0025670	619938		C5677011		mutS homolog 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 20"	None
Sulfide quinone oxidoreductase deficiency	sqord	SQOR	SQOR	https://raresource.nih.gov/literature/disease/0025671	0025671	619221		C5543168		sulfide quinone oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sulfide quinone oxidoreductase deficiency"	None
Waardenburg syndrome, IIa 2F	waardenburg syndrome, type 2f//ws2f	KITLG	KITLG	https://raresource.nih.gov/literature/disease/0025672	0025672	619947		C5677013		KIT ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome, IIa 2F"	1
Premature ovarian failure 19	pof19	HSF2BP	HSF2BP	https://raresource.nih.gov/literature/disease/0025673	0025673	619245		C5543229		heat shock transcription factor 2 binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 19"	None
Odontochondrodysplasia 2 with hearing loss and diabetes	odcd2//ondontochondrodysplasia 2 with hearing loss and diabetes	MIA3	MIA3	https://raresource.nih.gov/literature/disease/0025674	0025674	619269		C5543275		MIA SH3 domain ER export factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odontochondrodysplasia 2 with hearing loss and diabetes"	None
Spastic paraplegia 87, autosomal recessive	autosomal recessive spastic paraplegia type 87//spg87	TMEM63C	TMEM63C	https://raresource.nih.gov/literature/disease/0025676	0025676	619966	631088	C5774182		transmembrane protein 63C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 87, autosomal recessive"	None
Developmental and epileptic encephalopathy 104	dee104	ATP6V0A1	ATP6V0A1	https://raresource.nih.gov/literature/disease/0025677	0025677	619970		C5774183		ATPase H+ transporting V0 subunit a1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 104"	1
Developmental and epileptic encephalopathy 105 with hypopituitarism	dee105	HID1	HID1	https://raresource.nih.gov/literature/disease/0025678	0025678	619983		C5774190		HID1 domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 105 with hypopituitarism"	None
Intellectual developmental disorder, autosomal recessive 77	mrt77	CEP104	CEP104	https://raresource.nih.gov/literature/disease/0025679	0025679	619988		C5774193		centrosomal protein 104	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 77"	None
Cholestasis, progressive familial intrahepatic, 12	cholestasis, isolated low-ggt//pfic12	VPS33B	VPS33B	https://raresource.nih.gov/literature/disease/0025680	0025680	620010		C5774311		VPS33B late endosome and lysosome associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 12"	None
Lymphatic malformation 12	central conducting lymphatic anomaly//lmphm12	MDFIC	MDFIC	https://raresource.nih.gov/literature/disease/0025681	0025681	620014		C5774203		MyoD family inhibitor domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 12"	33
Advance sleep phase syndrome, familial, 4	fasps4	TIMELESS	TIMELESS	https://raresource.nih.gov/literature/disease/0025682	0025682	620015		C5774204		timeless circadian regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Advance sleep phase syndrome, familial, 4"	None
Arthrogryposis, distal, IIa 11	arthrogryposis, distal, type 11//da11	MET	MET	https://raresource.nih.gov/literature/disease/0025683	0025683	620019		C5774205		MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, IIa 11"	None
Stickler syndrome, type 6	stickler syndrome, iia 6//stickler syndrome, type vi//stl6	COL9A3	COL9A3	https://raresource.nih.gov/literature/disease/0025684	0025684	620022		C5774207		collagen type IX alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stickler syndrome, type 6"	None
Developmental and epileptic encephalopathy 106	dee106	UFSP2	UFSP2	https://raresource.nih.gov/literature/disease/0025685	0025685	620028		C5774212		UFM1 specific peptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 106"	None
Ciliary dyskinesia, primary, 48, without situs inversus	cild48	NME5	NME5	https://raresource.nih.gov/literature/disease/0025686	0025686	620032		C5774214		NME/NM23 family member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 48, without situs inversus"	None
Developmental and epileptic encephalopathy-107	dee107	NAPB	NAPB	https://raresource.nih.gov/literature/disease/0025687	0025687	620033		C5774215		NSF attachment protein beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy-107"	None
Dyskeratosis congenita, digenic	dkcd	TYMS	TYMS	https://raresource.nih.gov/literature/disease/0025688	0025688	620040		C5774217		thymidylate synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, digenic"	None
Microcephaly 29, primary, autosomal recessive	mcph29	PDCD6IP	PDCD6IP	https://raresource.nih.gov/literature/disease/0025689	0025689	620047		C5774220		programmed cell death 6 interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 29, primary, autosomal recessive"	None
Polycystic kidney disease 7	pkd7	ALG5	ALG5	https://raresource.nih.gov/literature/disease/0025690	0025690	620056		C5774222		ALG5 dolichyl-phosphate beta-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 7"	None
Charcot-Marie-Tooth disease, axonal, IIa 2II	charcot-marie-tooth disease, axonal, type 2ii//charcot-marie-tooth neuropathy, iia 2ii//charcot-marie-tooth neuropathy, type 2ii//cmt2ii	SLC12A6	SLC12A6	https://raresource.nih.gov/literature/disease/0025691	0025691	620068		C5774227		solute carrier family 12 member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, axonal, IIa 2II"	None
Diamond-Blackfan anemia 21	dba21//diamond-blackfan anaemia 21	HEATR3	HEATR3	https://raresource.nih.gov/literature/disease/0025692	0025692	620072		C5774230		HEAT repeat containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-Blackfan anemia 21"	None
Amelogenesis imperfecta, IIa 1K	ai1k//amelogenesis imperfecta, hypoplastic iia 1k//amelogenesis imperfecta, hypoplastic type ik//amelogenesis imperfecta, type 1k//amelogenesis imperfecta, type ik	SP6	SP6	https://raresource.nih.gov/literature/disease/0025693	0025693	620104		C5774246		Sp6 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, IIa 1K"	None
Spinocerebellar ataxia 48		STUB1	STUB1	https://raresource.nih.gov/literature/disease/0025702	0025702	618093	631103	C4748158		STIP1 homology and U-box containing protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 48"	5
Isolated growth hormone deficiency, type 4	dwarfism of sindh//growth hormone deficiency, isolated, type iv//isolated growth hormone deficiency, type iv	GHRHR	GHRHR	https://raresource.nih.gov/literature/disease/0025703	0025703	618157	684247	C4722273		growth hormone releasing hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated growth hormone deficiency, type 4"	3
Isolated growth hormone deficiency, type 5	pituitary hormone deficiency, combined or isolated, 7	RNPC3	RNPC3	https://raresource.nih.gov/literature/disease/0025704	0025704	618160		C4748435		RNA binding region (RNP1, RRM) containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated growth hormone deficiency, type 5"	None
Spondyloepimetaphyseal dysplasia, Krakow type	immunoosseous dysplasia, krakow type	SIK3	SIK3	https://raresource.nih.gov/literature/disease/0025705	0025705	618162		C4748455		SIK family kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Krakow type"	None
Bone marrow failure syndrome 5		TP53	TP53	https://raresource.nih.gov/literature/disease/0025706	0025706	618165		C4748488		tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bone marrow failure syndrome 5"	None
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		TSPEAR	TSPEAR	https://raresource.nih.gov/literature/disease/0025707	0025707	618180	685067	C4748560		thrombospondin type laminin G domain and EAR repeats	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	None
Ovarian dysgenesis 8		ESR2	ESR2	https://raresource.nih.gov/literature/disease/0025708	0025708	618187		C4748626		estrogen receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 8"	None
Mitochondrial complex I deficiency, nuclear type 26	mitochondrial complex 1 deficiency, nuclear type 26	NDUFA9	NDUFA9	https://raresource.nih.gov/literature/disease/0025709	0025709	618247		C4748809		NADH:ubiquinone oxidoreductase subunit A9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 26"	None
Ciliary dyskinesia, primary, 39	ciliary dyskinesia, primary, 39, with or without situs inversus	LRRC56	LRRC56	https://raresource.nih.gov/literature/disease/0025710	0025710	618254		C4748841		leucine rich repeat containing 56	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 39"	None
Congenital anomalies of kidney and urinary tract 3		NRIP1	NRIP1	https://raresource.nih.gov/literature/disease/0025711	0025711	618270		C4748921		nuclear receptor interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital anomalies of kidney and urinary tract 3"	None
Cardiac-urogenital syndrome	cugs//myelin regulatory factor-related cardiac urogenital syndrome//myrf-related cardiac urogenital syndrome	MYRF	MYRF	https://raresource.nih.gov/literature/disease/0025712	0025712	618280	647811	C4748946		myelin regulatory factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac-urogenital syndrome"	13
Hyper-IgE recurrent infection syndrome 3, autosomal recessive	ar-hies due to znf341 deficiency//autosomal recessive hies due to znf341 deficiency//autosomal recessive hyper-ige syndrome due to znf341 deficiency//autosomal recessive hyperimmunoglobulin e syndrome due to zinc finger protein 341 deficiency//hies3//hyper-ige syndrome 3, autosomal recessive, with recurrent infections	ZNF341	ZNF341	https://raresource.nih.gov/literature/disease/0025713	0025713	618282	641368	C4748969		zinc finger protein 341	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgE recurrent infection syndrome 3, autosomal recessive"	None
Developmental and epileptic encephalopathy, 69	dee69//eiee69//epileptic encephalopathy, early infantile, 69	CACNA1E	CACNA1E	https://raresource.nih.gov/literature/disease/0025714	0025714	618285		C4748988		calcium voltage-gated channel subunit alpha1 E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 69"	None
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	spinal muscular atrophy, lower extremity-predominant, 2b, autosomal dominant	BICD2	BICD2	https://raresource.nih.gov/literature/disease/0025715	0025715	618291		C4749003		BICD cargo adaptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant"	None
Intellectual developmental disorder, autosomal recessive 67	mental retardation, autosomal recessive 67	EIF3F	EIF3F	https://raresource.nih.gov/literature/disease/0025716	0025716	618295		C4749019		eukaryotic translation initiation factor 3 subunit F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 67"	None
Ciliary dyskinesia, primary, 40	ciliary dyskinesia, primary, 40, with or without situs inversus	DNAH9	DNAH9	https://raresource.nih.gov/literature/disease/0025717	0025717	618300		C4749028		dynein axonemal heavy chain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 40"	None
Intellectual developmental disorder, autosomal recessive 68	mental retardation, autosomal recessive 68	TRMT1	TRMT1	https://raresource.nih.gov/literature/disease/0025718	0025718	618302		C4749033		tRNA methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 68"	None
Basal ganglia calcification, idiopathic, 7, autosomal recessive		MYORG	MYORG	https://raresource.nih.gov/literature/disease/0025719	0025719	618317		C5193025		myogenesis regulating glycosidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 7, autosomal recessive"	None
Combined oxidative phosphorylation deficiency 37	coxpd37	MICOS13	MICOS13	https://raresource.nih.gov/literature/disease/0025720	0025720	618329		C5193031		mitochondrial contact site and cristae organizing system subunit 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 37"	None
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	image-i syndrome//imagei syndrome	POLE	POLE	https://raresource.nih.gov/literature/disease/0025721	0025721	618336		C5193036		DNA polymerase epsilon, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency"	1
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	polymicrogyria with or without vascular-type eds//vascular ehlers-danlos-polymicrogyria syndrome	COL3A1	COL3A1	https://raresource.nih.gov/literature/disease/0025722	0025722	618343	636941	C5193040		collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"	None
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis		SLC10A7	SLC10A7	https://raresource.nih.gov/literature/disease/0025723	0025723	618363		C5193055		solute carrier family 10 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	None
Spinocerebellar ataxia, autosomal recessive 27		GDAP2	GDAP2	https://raresource.nih.gov/literature/disease/0025724	0025724	618369		C5193058		ganglioside induced differentiation associated protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 27"	None
Developmental and epileptic encephalopathy, 72	dee72//eiee72//epileptic encephalopathy, early infantile, 72	NEUROD2	NEUROD2	https://raresource.nih.gov/literature/disease/0025725	0025725	618374		C5193063		neuronal differentiation 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 72"	None
Combined oxidative phosphorylation deficiency 38		MRPS14	MRPS14	https://raresource.nih.gov/literature/disease/0025726	0025726	618378		C5193064		mitochondrial ribosomal protein S14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 38"	None
Intellectual developmental disorder, autosomal recessive 69	nedmcb//neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities	ZBTB11	ZBTB11	https://raresource.nih.gov/literature/disease/0025727	0025727	618383		C5193067		zinc finger and BTB domain containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 69"	None
Amelogenesis imperfecta, type 3C	amelogenesis imperfecta, hypocalcification type, autosomal recessive	RELT	RELT	https://raresource.nih.gov/literature/disease/0025728	0025728	618386		C5193069		RELT TNF receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, type 3C"	None
Spondyloepiphyseal dysplasia, kondo-fu type	sed with elevated blood lysosomal enzymes	MBTPS1	MBTPS1	https://raresource.nih.gov/literature/disease/0025729	0025729	618392		C5193071		membrane bound transcription factor peptidase, site 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia, kondo-fu type"	1
Charcot-Marie-Tooth disease, axonal, type 2EE	charcot-marie-tooth neuropathy, type 2ee	MPV17	MPV17	https://raresource.nih.gov/literature/disease/0025730	0025730	618400		C5193076		mitochondrial inner membrane protein MPV17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, axonal, type 2EE"	None
Leukodystrophy, hypomyelinating, 18		DEGS1	DEGS1	https://raresource.nih.gov/literature/disease/0025731	0025731	618404		C5193078		delta 4-desaturase, sphingolipid 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 18"	None
Spastic paraplegia 80, autosomal dominant	autosomal dominant spastic paraplegia type 80//spg80	UBAP1	UBAP1	https://raresource.nih.gov/literature/disease/0025732	0025732	618418	631068	C5193084		ubiquitin associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 80, autosomal dominant"	2
Arthrogryposis, distal, type 2B3	arthrogryposis, distal, type 2b3 (sheldon-hall)//da2b3//distal arthrogryposis type 2b3 (sheldon-hall)	MYH3	MYH3	https://raresource.nih.gov/literature/disease/0025733	0025733	618436		C5193098		myosin heavy chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 2B3"	None
Spastic ataxia 9, autosomal recessive		CHP1	CHP1	https://raresource.nih.gov/literature/disease/0025734	0025734	618438		C5193100		calcineurin like EF-hand protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 9, autosomal recessive"	None
Long QT syndrome 8		CACNA1C	CACNA1C	https://raresource.nih.gov/literature/disease/0025735	0025735			CN260585		calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 8"	None
Hearing loss, autosomal recessive 115	deafness, autosomal recessive 115	SPNS2	SPNS2	https://raresource.nih.gov/literature/disease/0025736	0025736	618457		C5193108		SPNS lysolipid transporter 2, sphingosine-1-phosphate	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 115"	None
Bleeding disorder, platelet-type, 22		EPHB2	EPHB2	https://raresource.nih.gov/literature/disease/0025737	0025737	618462		C5193111		EPH receptor B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding disorder, platelet-type, 22"	None
Hypoalphalipoproteinemia, primary, 2	high density lipoprotein deficiency//hypoalphalipoproteinemia, primary, 2, autosomal recessive//hypoalphalipoproteinemia, primary, 2, with or without corneal clouding	APOA1	APOA1	https://raresource.nih.gov/literature/disease/0025738	0025738	618463		C5551172		apolipoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoalphalipoproteinemia, primary, 2"	45
Uridine-cytidineuria		SLC28A1	SLC28A1	https://raresource.nih.gov/literature/disease/0025739	0025739	618477		C4760647		solute carrier family 28 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uridine-cytidineuria"	2
Arthrogryposis multiplex congenita 3, myogenic type	amcm//arthrogryposis multiplex congenita, myogenic type	SYNE1	SYNE1	https://raresource.nih.gov/literature/disease/0025740	0025740			C5193121		spectrin repeat containing nuclear envelope protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 3, myogenic type"	None
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	P4HTM	P4HTM	https://raresource.nih.gov/literature/disease/0025741	0025741			C5193124		prolyl 4-hydroxylase, transmembrane	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	None
Aortic valve disease 3		ROBO4	ROBO4	https://raresource.nih.gov/literature/disease/0025742	0025742	618496		C5193127		roundabout guidance receptor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic valve disease 3"	None
Holoprosencephaly 12 with or without pancreatic agenesis		CNOT1	CNOT1	https://raresource.nih.gov/literature/disease/0025743	0025743	618500		C5193131		CCR4-NOT transcription complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 12 with or without pancreatic agenesis"	None
Intellectual developmental disorder, autosomal recessive 71	mental retardation, autosomal recessive 71	ALKBH8	ALKBH8	https://raresource.nih.gov/literature/disease/0025744	0025744	618504		C5193133		alkB homolog 8, tRNA methyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 71"	None
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	charcot-marie-tooth disease, type 6c//cmt 6c//cmt6c//hmsn 6c//hmsn vic//hmsn6c	PDXK	PDXK	https://raresource.nih.gov/literature/disease/0025745	0025745	618511		C5193137		pyridoxal kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy"	None
Intellectual developmental disorder 59	intellectual developmental disorder, autosomal dominant 59//mental retardation, autosomal dominant 59	CAMK2G	CAMK2G	https://raresource.nih.gov/literature/disease/0025746	0025746	618522		C5193190		calcium/calmodulin dependent protein kinase II gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder 59"	None
Hyper-IgE recurrent infection syndrome 4, autosomal recessive	hyper-ige recurrent infection syndrome 4b, autosomal recessive//hyper-ige syndrome 4b, autosomal recessive, with recurrent infections	IL6ST	IL6ST	https://raresource.nih.gov/literature/disease/0025747	0025747			C5193141		interleukin 6 cytokine family signal transducer	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgE recurrent infection syndrome 4, autosomal recessive"	None
Myopathy, congenital, with tremor	congenital myopathy 16//myogenic tremor	MYBPC1	MYBPC1	https://raresource.nih.gov/literature/disease/0025748	0025748	618524		C5231401		myosin binding protein C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, congenital, with tremor"	10
Mitochondrial DNA depletion syndrome 16 (hepatic type)		POLG2	POLG2	https://raresource.nih.gov/literature/disease/0025749	0025749	618528		C5193142		DNA polymerase gamma 2, accessory subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 16 (hepatic type)"	None
Robinow syndrome, autosomal recessive 2		NXN	NXN	https://raresource.nih.gov/literature/disease/0025750	0025750	618529		C5193143		nucleoredoxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Robinow syndrome, autosomal recessive 2"	None
Hearing loss, autosomal dominant 37	deafness, autosomal dominant 37	COL11A1	COL11A1	https://raresource.nih.gov/literature/disease/0025751	0025751	618533		C4760307		collagen type XI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 37"	None
Mitochondrial DNA depletion syndrome 17		MRM2	MRM2	https://raresource.nih.gov/literature/disease/0025752	0025752	618567		C5231412		mitochondrial rRNA methyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 17"	1
Myopathy, congenital, progressive, with scoliosis	congenital myopathy 19//myosco	PAX7	PAX7	https://raresource.nih.gov/literature/disease/0025753	0025753	618578		C5231417		paired box 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, congenital, progressive, with scoliosis"	2
Developmental and epileptic encephalopathy, 80	dee80//eiee80//epileptic encephalopathy, early infantile, 80//glycosylphosphatidylinositol biosynthesis defect 20	PIGB	PIGB	https://raresource.nih.gov/literature/disease/0025754	0025754	618580		C5231418		phosphatidylinositol glycan anchor biosynthesis class B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 80"	None
Snijders blok-fisher syndrome	intellectual disability, cupped ears syndrome	POU3F3	POU3F3	https://raresource.nih.gov/literature/disease/0025755	0025755	618604	656135	C5231424		POU class 3 homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Snijders blok-fisher syndrome"	2
Spondyloepiphyseal dysplasia, nishimura type	spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome	MIR140	MIR140	https://raresource.nih.gov/literature/disease/0025756	0025756			C4305147		microRNA 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia, nishimura type"	None
Abdominal obesity-metabolic syndrome 4	aoms4	CELA2A	CELA2A	https://raresource.nih.gov/literature/disease/0025757	0025757	618620		C5231430		chymotrypsin like elastase 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Abdominal obesity-metabolic syndrome 4"	None
Osteogenesis imperfecta, type 20	osteogenesis imperfecta, type xx	MESD	MESD	https://raresource.nih.gov/literature/disease/0025758	0025758	618644		C5231439		mesoderm development LRP chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type 20"	3
Myopathy, congenital, with structured cores and z-line abnormalities	congenital myopathy 8//multiple structured core disease	ACTN2	ACTN2	https://raresource.nih.gov/literature/disease/0025759	0025759	618654		C5231445		actinin alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, congenital, with structured cores and z-line abnormalities"	2
Developmental and epileptic encephalopathy, 81	dee81//eiee81//epileptic encephalopathy, early infantile, 81	DMXL2	DMXL2	https://raresource.nih.gov/literature/disease/0025760	0025760	618663		C5231450		Dmx like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 81"	1
Intellectual developmental disorder, autosomal recessive 72	mental retardation, autosomal recessive 72	METTL5	METTL5	https://raresource.nih.gov/literature/disease/0025761	0025761	618665		C5231452		methyltransferase 5, N6-adenosine	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 72"	None
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	zcchc8-related telomere biology disorder	ZCCHC8	ZCCHC8	https://raresource.nih.gov/literature/disease/0025762	0025762	618674		C5231457		zinc finger CCHC-type containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5"	None
Leukodystrophy, hypomyelinating, 19, transient infantile		TMEM63A	TMEM63A	https://raresource.nih.gov/literature/disease/0025763	0025763	618688		C5231463		transmembrane protein 63A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 19, transient infantile"	None
Ciliary dyskinesia, primary, 43	ciliary dyskinesia, primary, 43, with or without situs inversus	FOXJ1	FOXJ1	https://raresource.nih.gov/literature/disease/0025764	0025764	618699		C5231466		forkhead box J1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 43"	None
Developmental and epileptic encephalopathy, 82	dee82//eiee82//epileptic encephalopathy, early infantile, 82//glutamate oxaloacetate transaminase, mitochondrial, deficiency of//got2 deficiency	GOT2	GOT2	https://raresource.nih.gov/literature/disease/0025765	0025765	618721		C5231473		glutamic-oxaloacetic transaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 82"	3
Heyn-Sproul-Jackson syndrome	microcephaly, short stature, and impaired intellectual development	DNMT3A	DNMT3A	https://raresource.nih.gov/literature/disease/0025766	0025766	618724	658595	C5231475		DNA methyltransferase 3 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heyn-Sproul-Jackson syndrome"	4
Developmental and epileptic encephalopathy, 83	barakat-perenthaler syndrome//dee83//eiee83//epileptic encephalopathy, early infantile, 83	UGP2	UGP2	https://raresource.nih.gov/literature/disease/0025767	0025767	618744		C5231487		UDP-glucose pyrophosphorylase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 83"	None
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	amcnacc//arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum//zain syndrome	SCYL2	SCYL2	https://raresource.nih.gov/literature/disease/0025768	0025768	618766		C5231494		SCY1 like pseudokinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	None
Corneal dystrophy, Meesmann, 2	meesmann corneal dystrophy 2	KRT3	KRT3	https://raresource.nih.gov/literature/disease/0025769	0025769	618767		C5231495		keratin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, Meesmann, 2"	None
Spastic paraplegia 81, autosomal recessive		SELENOI	SELENOI	https://raresource.nih.gov/literature/disease/0025770	0025770			C5394033		selenoprotein I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 81, autosomal recessive"	None
Spastic paraplegia 82, autosomal recessive	autosomal recessive spastic paraplegia type 82//spg82	PCYT2	PCYT2	https://raresource.nih.gov/literature/disease/0025771	0025771	618770	631073	C5394037		phosphate cytidylyltransferase 2, ethanolamine	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 82, autosomal recessive"	None
Lymphatic malformation 8		CALCRL	CALCRL	https://raresource.nih.gov/literature/disease/0025772	0025772	618773		C5231496		calcitonin receptor like receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 8"	None
Long QT syndrome 16		CALM3	CALM3	https://raresource.nih.gov/literature/disease/0025773	0025773	618782		C5394068		calmodulin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 16"	None
Developmental and epileptic encephalopathy, 84	dee84//eiee84//epileptic encephalopathy, early ifantile, 84//epileptic encephalopathy, early infantile, 84//ugdh-related disorder	UGDH	UGDH	https://raresource.nih.gov/literature/disease/0025774	0025774	618792		C5394081		UDP-glucose 6-dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 84"	None
Intellectual developmental disorder 62	autosomal dominant intellectual developmental disorder-62//dlg4 synaptopathy//dlg4-related synaptopathy//intellectual developmental disorder, autosomal dominant 62//mental retardation, autosomal dominant 62//shine syndrome//sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome	DLG4	DLG4	https://raresource.nih.gov/literature/disease/0025775	0025775	618793		C5394083		discs large MAGUK scaffold protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder 62"	6
Spinocerebellar ataxia, autosomal recessive 28	thg1l-related autosomal recessive congenital cerebellar ataxia	THG1L	THG1L	https://raresource.nih.gov/literature/disease/0025776	0025776	618800		C5394101		tRNA-histidine guanylyltransferase 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 28"	80
Mitochondrial DNA depletion syndrome 18		SLC25A21	SLC25A21	https://raresource.nih.gov/literature/disease/0025777	0025777	618811		C5394140		solute carrier family 25 member 21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome 18"	None
Myopathy, congenital, with respiratory insufficiency and bone fractures		FXR1	FXR1	https://raresource.nih.gov/literature/disease/0025779	0025779	618822		C5394189		FMR1 autosomal homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, congenital, with respiratory insufficiency and bone fractures"	None
Myopathy, congenital proximal, with minicore lesions		FXR1	FXR1	https://raresource.nih.gov/literature/disease/0025780	0025780	618823		C5394193		FMR1 autosomal homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, congenital proximal, with minicore lesions"	None
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	mental retardation, autosomal dominant 63, with macrocephaly	TRIO	TRIO	https://raresource.nih.gov/literature/disease/0025781	0025781	618825		C5394205		trio Rho guanine nucleotide exchange factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 63, with macrocephaly"	None
Erythrokeratodermia variabilis et progressiva 1	autosomal dominant erythrokeratodermia variabilis//ekvp1//erythrokeratodermia figurata, congenital familial, in plaques//erythrokeratodermia variabilis with erythema gyratum repens//erythrokeratodermia, progressive symmetric	GJB3	GJB3	https://raresource.nih.gov/literature/disease/0025782	0025782	133200		C4551486		gap junction protein beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrokeratodermia variabilis et progressiva 1"	471
Orofaciodigital syndrome 16	ofds xvi//oral-facial-digital syndrome, type xvi//orofaciodigital syndrome xvi	TMEM107	TMEM107	https://raresource.nih.gov/literature/disease/0025783	0025783	617563		C4539729		transmembrane protein 107	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome 16"	None
Meier-Gorlin syndrome 8		MCM5	MCM5	https://raresource.nih.gov/literature/disease/0025784	0025784	617564		C4479655		minichromosome maintenance complex component 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meier-Gorlin syndrome 8"	None
Ichthyosis, congenital, autosomal recessive 13		SDR9C7	SDR9C7	https://raresource.nih.gov/literature/disease/0025785	0025785	617574		C4539772		short chain dehydrogenase/reductase family 9C member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, congenital, autosomal recessive 13"	None
Spinocerebellar ataxia, autosomal recessive 25		ATG5	ATG5	https://raresource.nih.gov/literature/disease/0025786	0025786	617584		C4539808		autophagy related 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 25"	None
Spinocerebellar ataxia, autosomal recessive 26		XRCC1	XRCC1	https://raresource.nih.gov/literature/disease/0025787	0025787	617633		C4539948		X-ray repair cross complementing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 26"	None
Hearing loss, autosomal recessive 57	deafness, autosomal recessive 57	PDZD7	PDZD7	https://raresource.nih.gov/literature/disease/0025788	0025788	618003		C4693893		PDZ domain containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 57"	155
Hearing loss, autosomal recessive 109	deafness, autosomal recessive 109	ESRP1	ESRP1	https://raresource.nih.gov/literature/disease/0025789	0025789	618013		C4693935		epithelial splicing regulatory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 109"	None
Hearing loss, autosomal dominant 34, with or without inflammation	deafness, autosomal dominant 34, with or without inflammation	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0025790	0025790	617772		C4521680		NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 34, with or without inflammation"	33
Joubert syndrome 32	jbts32	SUFU	SUFU	https://raresource.nih.gov/literature/disease/0025792	0025792	617757		C4540342		SUFU negative regulator of hedgehog signaling	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 32"	None
Joubert syndrome 33		PIBF1	PIBF1	https://raresource.nih.gov/literature/disease/0025793	0025793	617767		C4540389		progesterone immunomodulatory binding factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 33"	204
Developmental and epileptic encephalopathy, 56	dee56//eiee56//epileptic encephalopathy, early infantile, 56//infantile epileptic encephalopathy 56	YWHAG	YWHAG	https://raresource.nih.gov/literature/disease/0025795	0025795	617665		C4540034		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 56"	3
Developmental and epileptic encephalopathy, 57	dee57//eiee57//epileptic encephalopathy, early infantile, 57//infantile epileptic encephalopathy 57	KCNT2	KCNT2	https://raresource.nih.gov/literature/disease/0025796	0025796	617771		C4540411		potassium sodium-activated channel subfamily T member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 57"	None
Developmental and epileptic encephalopathy, 59	dee59//early infantile epileptic encephalopathy 59//eiee59//epileptic encephalopathy, early infantile, 59//infantile epileptic encephalopathy 59	GABBR2	GABBR2	https://raresource.nih.gov/literature/disease/0025797	0025797	617904		C4693550		gamma-aminobutyric acid type B receptor subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 59"	None
Developmental and epileptic encephalopathy, 61	dee61//early infantile epileptic encephalopathy 61//eiee61//epileptic encephalopathy, early infantile, 61	ADAM22	ADAM22	https://raresource.nih.gov/literature/disease/0025798	0025798	617933		C4693688		ADAM metallopeptidase domain 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 61"	None
Developmental and epileptic encephalopathy, 63	dee63//eiee63//epileptic encephalopathy, early infantile, 63	CPLX1	CPLX1	https://raresource.nih.gov/literature/disease/0025799	0025799	617976		C4693810		complexin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 63"	None
Orofaciodigital syndrome 17	ofd17//ofds xvii//oral-facial-digital syndrome, type xvii//orofaciodigital syndrome xvii	INTU	INTU	https://raresource.nih.gov/literature/disease/0025800	0025800	617926		C4693640		inturned planar cell polarity protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome 17"	1
Spinocerebellar ataxia 44		GRM1	GRM1	https://raresource.nih.gov/literature/disease/0025801	0025801	617691	631095	C4521563		glutamate metabotropic receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 44"	1
Erythrocytosis, familial, 5	epo familial polycythemia//familial polycythemia caused by mutation in epo	EPO	EPO	https://raresource.nih.gov/literature/disease/0025802	0025802	617907		C4693552		erythropoietin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrocytosis, familial, 5"	None
Short-rib thoracic dysplasia 19 with or without polydactyly		IFT81	IFT81	https://raresource.nih.gov/literature/disease/0025803	0025803	617895		C4693524		intraflagellar transport 81	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 19 with or without polydactyly"	None
Combined oxidative phosphorylation deficiency 45		MRPL12	MRPL12	https://raresource.nih.gov/literature/disease/0025804	0025804	618951		C5436461		mitochondrial ribosomal protein L12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 45"	None
Combined oxidative phosphorylation deficiency 46	combined oxidative phosphorylation defiency 46	MRPS23	MRPS23	https://raresource.nih.gov/literature/disease/0025805	0025805	618952		C5436466		mitochondrial ribosomal protein S23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 46"	None
Combined oxidative phosphorylation deficiency 47		MRPS28	MRPS28	https://raresource.nih.gov/literature/disease/0025806	0025806	618958		C5436476		mitochondrial ribosomal protein S28	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 47"	None
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	congenital myopathy 17//myopathy, congenital, due to myod1 deficiency	MYOD1	MYOD1	https://raresource.nih.gov/literature/disease/0025807	0025807	618975		C5436530		myogenic differentiation 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"	None
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	imd73b	RAC2	RAC2	https://raresource.nih.gov/literature/disease/0025808	0025808	618986		C5436549		Rac family small GTPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"	None
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	muscular dystrophy, congenital, dpm3-related	DPM3	DPM3	https://raresource.nih.gov/literature/disease/0025809	0025809	618992		C5436552		dolichyl-phosphate mannosyltransferase subunit 3, regulatory	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15"	None
Retinitis pigmentosa 90		IDH3A	IDH3A	https://raresource.nih.gov/literature/disease/0025810	0025810	619007		C5436588		isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 90"	None
Combined oxidative phosphorylation deficiency 48		NSUN3	NSUN3	https://raresource.nih.gov/literature/disease/0025811	0025811	619012		C5436602		NOP2/Sun RNA methyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 48"	None
Spastic paraplegia 83, autosomal recessive	autosomal recessive spastic paraplegia type 83//spg83	HPDL	HPDL	https://raresource.nih.gov/literature/disease/0025812	0025812	619027	631076	C5436637		4-hydroxyphenylpyruvate dioxygenase like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 83, autosomal recessive"	None
Myopathy, epilepsy, and progressive cerebral atrophy	mepca	ALG14	ALG14	https://raresource.nih.gov/literature/disease/0025813	0025813	619036		C5436652		ALG14 UDP-N-acetylglucosaminyltransferase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, epilepsy, and progressive cerebral atrophy"	1
Myofibrillar myopathy 10	mfm10	SVIL	SVIL	https://raresource.nih.gov/literature/disease/0025814	0025814	619040		C5436656		supervillin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myofibrillar myopathy 10"	110
Combined oxidative phosphorylation deficiency 51	coxpd51	PTCD3	PTCD3	https://raresource.nih.gov/literature/disease/0025815	0025815	619057		C5436703		pentatricopeptide repeat domain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 51"	None
Leukodystrophy, hypomyelinating, 20	hld20	CNP	CNP	https://raresource.nih.gov/literature/disease/0025816	0025816	619071		C5436730		2'',3''-cyclic nucleotide 3'' phosphodiesterase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 20"	1
Retinitis pigmentosa 81	rp81	IFT43	IFT43	https://raresource.nih.gov/literature/disease/0025817	0025817	617871		C4693443		intraflagellar transport 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 81"	None
Short-rib thoracic dysplasia 18 with polydactyly		IFT43	IFT43	https://raresource.nih.gov/literature/disease/0025818	0025818	617866		C4693420		intraflagellar transport 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 18 with polydactyly"	None
Charcot-Marie-Tooth disease, dominant intermediate G		NEFL	NEFL	https://raresource.nih.gov/literature/disease/0025819	0025819	617882		C4693509		neurofilament light chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, dominant intermediate G"	None
Neutropenia, severe congenital, 1, autosomal dominant		ELANE	ELANE	https://raresource.nih.gov/literature/disease/0025849	0025849			C1859966	C565969	elastase, neutrophil expressed	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutropenia, severe congenital, 1, autosomal dominant"	None
Hypokalemic periodic paralysis, type 1		CACNA1S;SCN4A	CACNA1S;SCN4A	https://raresource.nih.gov/literature/disease/0025854	0025854			C3714580		calcium voltage-gated channel subunit alpha1 S; sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypokalemic periodic paralysis, type 1"	6
Otospondylomegaepiphyseal dysplasia, autosomal recessive	insley-astley syndrome//osmedb	COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0025881	0025881			C5551484		collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otospondylomegaepiphyseal dysplasia, autosomal recessive"	2
Specific granule deficiency 1	cebpe specific granule deficiency//lactoferrin-deficient neutrophils//sgd1//specific granule deficiency caused by mutation in cebpe	CEBPE	CEBPE	https://raresource.nih.gov/literature/disease/0025882	0025882	245480		C4551556		CCAAT enhancer binding protein epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Specific granule deficiency 1"	None
Specific granule deficiency 2	sgd2	SMARCD2	SMARCD2	https://raresource.nih.gov/literature/disease/0025883	0025883	617475		C4479548		SWI/SNF related BAF chromatin remodeling complex subunit D2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Specific granule deficiency 2"	1
Myasthenic syndrome, congenital, 22	cms22//prepl deficiency	PREPL	PREPL	https://raresource.nih.gov/literature/disease/0025886	0025886	616224		C4479088		prolyl endopeptidase like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 22"	13
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	cdk13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome//chdfidd	CDK13	CDK13	https://raresource.nih.gov/literature/disease/0025887	0025887	617360	646278	C4479246		cyclin dependent kinase 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	6
Ectodermal dysplasia 13, hair/tooth type	ectd13	KREMEN1	KREMEN1	https://raresource.nih.gov/literature/disease/0025888	0025888	617392		C4479322		kringle containing transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia 13, hair/tooth type"	None
Immunoskeletal dysplasia with neurodevelopmental abnormalities	isdna	EXTL3	EXTL3	https://raresource.nih.gov/literature/disease/0025889	0025889			C4479452		exostosin like glycosyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunoskeletal dysplasia with neurodevelopmental abnormalities"	3
Intellectual disability, autosomal recessive 60	intellectual developmental disorder, autosomal recessive 60//mental retardation, autosomal recessive 60//mrt60	TAF13	TAF13	https://raresource.nih.gov/literature/disease/0025890	0025890	617432		C4479476		TATA-box binding protein associated factor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal recessive 60"	1
Premature ovarian failure 13	pof13	MSH5	MSH5	https://raresource.nih.gov/literature/disease/0025891	0025891	617442		C4479510		mutS homolog 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 13"	None
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	developmental delay, behavioral problems, small hands and feet, cyclic vomiting, dysmorphic features syndrome//jansen de vries syndrome//jansen-de vries syndrome//jdvs//jdvs - jansen-de vries syndrome	PPM1D	PPM1D	https://raresource.nih.gov/literature/disease/0025892	0025892	617450	653767	C4479517		protein phosphatase, Mg2+/Mn2+ dependent 1D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"	8
Structural heart defects and renal anomalies syndrome	shdra	TMEM260	TMEM260	https://raresource.nih.gov/literature/disease/0025893	0025893	617478	689822	C4479549		transmembrane protein 260	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Structural heart defects and renal anomalies syndrome"	6
Al Kaissi syndrome	growth retardation, spine malformation, dysmorphic facies, and developmental delay	CDK10	CDK10	https://raresource.nih.gov/literature/disease/0025894	0025894	617694		C4540156		cyclin dependent kinase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Al Kaissi syndrome"	4
Fanconi anemia, complementation group W		RFWD3	RFWD3	https://raresource.nih.gov/literature/disease/0025895	0025895	617784		C4521564		ring finger and WD repeat domain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia, complementation group W"	None
Polycystic liver disease 4 with or without kidney cysts		LRP5	LRP5	https://raresource.nih.gov/literature/disease/0025896	0025896	617875		C4693479		LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic liver disease 4 with or without kidney cysts"	None
Short-rib thoracic dysplasia 20 with polydactyly		INTU	INTU	https://raresource.nih.gov/literature/disease/0025897	0025897	617925		C4693616		inturned planar cell polarity protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 20 with polydactyly"	None
Osteogenesis imperfecta, type 18	osteogenesis imperfecta, type xviii	TENT5A	TENT5A	https://raresource.nih.gov/literature/disease/0025898	0025898	617952		C4693736		terminal nucleotidyltransferase 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type 18"	None
Premature ovarian failure 10	pof10	MCM8	MCM8	https://raresource.nih.gov/literature/disease/0025908	0025908	612885		C4225402		minichromosome maintenance 8 homologous recombination repair factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 10"	None
Premature ovarian failure 14		GDF9	GDF9	https://raresource.nih.gov/literature/disease/0025909	0025909	618014		C4693941		growth differentiation factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 14"	None
Osteogenesis imperfecta, type 19	osteogenesis imperfecta, type xix//osteogenesis imperfecta, type xix, x-linked recessive	MBTPS2	MBTPS2	https://raresource.nih.gov/literature/disease/0025944	0025944	301014		C4746956		membrane bound transcription factor peptidase, site 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type 19"	1
Peroxisome biogenesis disorder 10B		PEX3	PEX3	https://raresource.nih.gov/literature/disease/0025945	0025945	617370		C4479254		peroxisomal biogenesis factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder 10B"	None
Avascular necrosis of femoral head, primary, 1	anfh1//avascular necrosis of femoral head, primary//avascular necrosis of the femoral head	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0025946	0025946	608805		C4551562		collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Avascular necrosis of femoral head, primary, 1"	1539
Avascular necrosis of femoral head, primary, 2	anfh2	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0025947	0025947	617383		C4479260		transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Avascular necrosis of femoral head, primary, 2"	None
Anauxetic dysplasia 1	anxd1	RMRP	RMRP	https://raresource.nih.gov/literature/disease/0025948	0025948	607095		C4551965		RNA component of mitochondrial RNA processing endoribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anauxetic dysplasia 1"	1
Anauxetic dysplasia 2	anxd2	POP1	POP1	https://raresource.nih.gov/literature/disease/0025949	0025949	617396		C4479357		POP1 homolog, ribonuclease P/MRP subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anauxetic dysplasia 2"	1
Short-rib thoracic dysplasia 17 with or without polydactyly	srtd17	DYNLT2B	DYNLT2B	https://raresource.nih.gov/literature/disease/0025950	0025950	617405		C4479416		dynein light chain Tctex-type 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short-rib thoracic dysplasia 17 with or without polydactyly"	None
Townes-Brocks syndrome 1	deafness, sensorineural, with imperforate anus and thumb anomalies//tbs1//townes-brocks branchiootorenal-like syndrome	SALL1	SALL1	https://raresource.nih.gov/literature/disease/0025951	0025951	107480		C4551481		spalt like transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Townes-Brocks syndrome 1"	1
Townes-Brocks syndrome 2	tbs2	DACT1	DACT1	https://raresource.nih.gov/literature/disease/0025952	0025952	617466		C4479534		dishevelled binding antagonist of beta catenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Townes-Brocks syndrome 2"	1
Noonan syndrome-like disorder with loose anagen hair 2	nslh2	PPP1CB	PPP1CB	https://raresource.nih.gov/literature/disease/0025953	0025953	617506		C4479577		protein phosphatase 1 catalytic subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome-like disorder with loose anagen hair 2"	2242
Pituitary adenoma 5, multiple types		CDH23	CDH23	https://raresource.nih.gov/literature/disease/0025954	0025954	617540		C4539685		cadherin related 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary adenoma 5, multiple types"	None
Noonan syndrome-like disorder with loose anagen hair 1	noonan syndrome-like with loose anagen hair 1//nslh1	SHOC2	SHOC2	https://raresource.nih.gov/literature/disease/0025955	0025955	607721		C4478716		SHOC2 leucine rich repeat scaffold protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome-like disorder with loose anagen hair 1"	2
Combined oxidative phosphorylation deficiency 32	coxpd32	MRPS34	MRPS34	https://raresource.nih.gov/literature/disease/0025956	0025956	617664		C4540029		mitochondrial ribosomal protein S34	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 32"	1
Pituitary adenoma 3, multiple types	pituitary adenoma 3, acth-secreting, somatic//pituitary adenoma 3, growth hormone-secreting, somatic//pituitary adenoma 3, multiple types, somatic	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0025957	0025957	617686		C4540135		GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary adenoma 3, multiple types"	None
Ovarian dysgenesis 5		SOHLH1	SOHLH1	https://raresource.nih.gov/literature/disease/0025958	0025958	617690		C4540141		spermatogenesis and oogenesis specific basic helix-loop-helix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 5"	1
Combined oxidative phosphorylation deficiency 33	coxpd33	C1QBP	C1QBP	https://raresource.nih.gov/literature/disease/0025959	0025959	617713		C4540209		complement C1q binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 33"	324
Epiphyseal dysplasia, multiple, 7	multiple epiphyseal dysplasia type 7	CANT1	CANT1	https://raresource.nih.gov/literature/disease/0025960	0025960	617719	647676	C4540251		calcium activated nucleotidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epiphyseal dysplasia, multiple, 7"	None
Immunodeficiency, common variable, 14		IRF2BP2	IRF2BP2	https://raresource.nih.gov/literature/disease/0025961	0025961	617765		C4540380		interferon regulatory factor 2 binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 14"	None
Fraser syndrome 1	fras1-related fraser syndrome//frasrs1	FRAS1	FRAS1	https://raresource.nih.gov/literature/disease/0025962	0025962	219000		C4551480		Fraser extracellular matrix complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fraser syndrome 1"	None
Fraser syndrome 2	frasrs2//frem2-related fraser syndrome	FREM2	FREM2	https://raresource.nih.gov/literature/disease/0025963	0025963	617666		C4540036		FRAS1 related extracellular matrix 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fraser syndrome 2"	2
Fraser syndrome 3		GRIP1	GRIP1	https://raresource.nih.gov/literature/disease/0025964	0025964	617667		C4540040		glutamate receptor interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fraser syndrome 3"	1
Blepharocheilodontic syndrome 1	bcds1//blepharo-cheilo-odontic syndrome caused by mutation in cdh1//cdh1 blepharo-cheilo-odontic syndrome	CDH1	CDH1	https://raresource.nih.gov/literature/disease/0025965	0025965			C4551988		cadherin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharocheilodontic syndrome 1"	None
Combined oxidative phosphorylation deficiency 35	coxpd35	TRIT1	TRIT1	https://raresource.nih.gov/literature/disease/0025966	0025966	617873		C4693466		tRNA isopentenyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 35"	2
Polycystic liver disease 3 with or without kidney cysts		ALG8	ALG8	https://raresource.nih.gov/literature/disease/0025967	0025967	617874		C4693472		ALG8 alpha-1,3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic liver disease 3 with or without kidney cysts"	None
Multiple synostoses syndrome 4		GDF6	GDF6	https://raresource.nih.gov/literature/disease/0025968	0025968	617898		C4693531		growth differentiation factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple synostoses syndrome 4"	None
Neurodegeneration with brain iron accumulation 7		REPS1	REPS1	https://raresource.nih.gov/literature/disease/0025969	0025969	617916		C4693583		RALBP1 associated Eps domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 7"	None
Neurodegeneration with brain iron accumulation 8		CRAT	CRAT	https://raresource.nih.gov/literature/disease/0025970	0025970	617917		C4693587		carnitine O-acetyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 8"	534
Amyloidosis, primary localized cutaneous, 3	amyloidosis cutis dyschromica	GPNMB	GPNMB	https://raresource.nih.gov/literature/disease/0025971	0025971			C4554421		glycoprotein nmb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis, primary localized cutaneous, 3"	40
Keratoconus 9		TUBA3D	TUBA3D	https://raresource.nih.gov/literature/disease/0025972	0025972	617928		C4693660		tubulin alpha 3d	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratoconus 9"	None
Epilepsy, familial focal, with variable foci 4	ffevf4	SCN3A	SCN3A	https://raresource.nih.gov/literature/disease/0025973	0025973	617935		C4693694		sodium voltage-gated channel alpha subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial focal, with variable foci 4"	94
Combined oxidative phosphorylation deficiency 36	coxpd36	MRPS2	MRPS2	https://raresource.nih.gov/literature/disease/0025974	0025974	617950		C4693722		mitochondrial ribosomal protein S2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 36"	1
Leukodystrophy, hypomyelinating, 15		EPRS1	EPRS1	https://raresource.nih.gov/literature/disease/0025975	0025975	617951		C4693733		glutamyl-prolyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 15"	None
Leukodystrophy, hypomyelinating, 16		TMEM106B	TMEM106B	https://raresource.nih.gov/literature/disease/0025976	0025976	617964		C4693779		transmembrane protein 106B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 16"	None
Hydrocephalus, congenital, 3, with brain anomalies	hydrocephalus, nonsyndromic, autosomal recessive 3	WDR81	WDR81	https://raresource.nih.gov/literature/disease/0025977	0025977	617967		C4747885		WD repeat domain 81	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrocephalus, congenital, 3, with brain anomalies"	16
Erythrocytosis, familial, 6	erythrocytosis 6//erythrocytosis, beta-globin type//polycythemia, beta-globin type	HBB	HBB	https://raresource.nih.gov/literature/disease/0025978	0025978	617980		C4693822		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrocytosis, familial, 6"	1355
Erythrocytosis, familial, 7	erythrocytosis 7//erythrocytosis, alpha-globin type//polycythemia, alpha-globin type	HBA2;HBA1	HBA2;HBA1	https://raresource.nih.gov/literature/disease/0025979	0025979	617981		C4693823		hemoglobin subunit alpha 2; hemoglobin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Erythrocytosis, familial, 7"	None
Leukodystrophy, hypomyelinating, 17		AIMP2	AIMP2	https://raresource.nih.gov/literature/disease/0025980	0025980	618006		C4693912		aminoacyl tRNA synthetase complex interacting multifunctional protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 17"	None
Classic dopamine transporter deficiency syndrome	classic dtds//parkinsonism-dystonia, infantile, 1//pkdys1	SLC6A3	SLC6A3	https://raresource.nih.gov/literature/disease/0025981	0025981			C5700336		solute carrier family 6 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic dopamine transporter deficiency syndrome"	91
Intellectual disability, autosomal dominant 57	intellectual developmental disorder, autosomal dominant 57//mental retardation, autosomal dominant 57//tlk2-related neurodevelopmental disorder//tlk2-related syndrome	TLK2	TLK2	https://raresource.nih.gov/literature/disease/0025982	0025982	618050		C4748003		tousled like kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, autosomal dominant 57"	3
Cardiomyopathy, familial hypertrophic 27		ALPK3	ALPK3	https://raresource.nih.gov/literature/disease/0025983	0025983	618052		C4748014		alpha kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial hypertrophic 27"	1
Polycystic kidney disease 6 with or without polycystic liver disease	dnajb11 polycystic kidney disease//polycystic kidney disease caused by mutation in dnajb11	DNAJB11	DNAJB11	https://raresource.nih.gov/literature/disease/0025984	0025984	618061		C4748044		DnaJ heat shock protein family (Hsp40) member B11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 6 with or without polycystic liver disease"	None
Developmental and epileptic encephalopathy, 66	dee66//eiee66//epileptic encephalopathy, early infantile, 66	PACS2	PACS2	https://raresource.nih.gov/literature/disease/0025985	0025985	618067		C4748070		phosphofurin acidic cluster sorting protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 66"	2
Epilepsy, familial adult myoclonic, 6	benign adult familial myoclonic epilepsy 6//cortical myoclonic tremor with epilepsy, familial, 6	TNRC6A	TNRC6A	https://raresource.nih.gov/literature/disease/0025986	0025986	618074		C4748079		trinucleotide repeat containing adaptor 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 6"	None
Epilepsy, familial adult myoclonic, 7	benign adult familial myoclonic epilepsy 7//cortical myoclonic tremor with epilepsy, familial, 7	RAPGEF2	RAPGEF2	https://raresource.nih.gov/literature/disease/0025987	0025987	618075		C4748080		Rap guanine nucleotide exchange factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial adult myoclonic, 7"	None
Peeling skin syndrome 6	pss6	FLG2	FLG2	https://raresource.nih.gov/literature/disease/0025988	0025988	618084		C4748093		filaggrin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peeling skin syndrome 6"	None
Premature ovarian failure 15		FANCM	FANCM	https://raresource.nih.gov/literature/disease/0025989	0025989	618096		C4748170		FA complementation group M	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 15"	None
X-linked congenital hemolytic anemia	hacxl//hemolytic anemia, congenital, x-linked, x-linked recessive	ATP11C	ATP11C	https://raresource.nih.gov/literature/disease/0025994	0025994	301015		C4746970		ATPase phospholipid transporting 11C (ATP11C blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked congenital hemolytic anemia"	None
46,XX sex reversal 4	46,xx sex reversal, sry-negative//srxx4	NR5A1	NR5A1	https://raresource.nih.gov/literature/disease/0025995	0025995	617480		C4479552		nuclear receptor subfamily 5 group A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX sex reversal 4"	None
Retinal dystrophy with or without macular staphyloma	retinal dystrophy with macular staphyloma	CFAP410	CFAP410	https://raresource.nih.gov/literature/disease/0025996	0025996	617547	653709	C4479651		cilia and flagella associated protein 410	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal dystrophy with or without macular staphyloma"	None
Congenital heart defects and skeletal malformations syndrome	marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome	ABL1	ABL1	https://raresource.nih.gov/literature/disease/0025997	0025997	617602	643503	C4539857		ABL proto-oncogene 1, non-receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital heart defects and skeletal malformations syndrome"	4
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		PBX1	PBX1	https://raresource.nih.gov/literature/disease/0025998	0025998	617641	656130	C4539968		PBX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	None
Polydactyly, postaxial, type a7		IQCE	IQCE	https://raresource.nih.gov/literature/disease/0025999	0025999	617642		C4539976		IQ motif containing E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly, postaxial, type a7"	None
Neuronopathy, distal hereditary motor, type 9	neuronopathy, distal hereditary motor, autosomal dominant 9//neuronopathy, distal hereditary motor, type ix//neuropathy, distal hereditary motor, type ix	WARS1	WARS1	https://raresource.nih.gov/literature/disease/0026000	0026000	617721		C4540265		tryptophanyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, type 9"	None
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	combined immunodeficiency and megaloblastic anemia//methylenetetrahydrofolate dehydrogenase 1 deficiency	MTHFD1	MTHFD1	https://raresource.nih.gov/literature/disease/0026001	0026001	617780	658813	C4540434		methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"	2
Leber congenital amaurosis with early-onset deafness		TUBB4B	TUBB4B	https://raresource.nih.gov/literature/disease/0026002	0026002	617879		C4693498		tubulin beta 4B class IVb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis with early-onset deafness"	None
Spondyloepimetaphyseal dysplasia, di rocco type		UFSP2	UFSP2	https://raresource.nih.gov/literature/disease/0026004	0026004	617974		C4693799		UFM1 specific peptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, di rocco type"	None
Glycosylphosphatidylinositol biosynthesis defect 17		PIGH	PIGH	https://raresource.nih.gov/literature/disease/0026006	0026006	618010		C4747891		phosphatidylinositol glycan anchor biosynthesis class H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycosylphosphatidylinositol biosynthesis defect 17"	None
Protoporphyria, erythropoietic, 2	epp2	CLPX	CLPX	https://raresource.nih.gov/literature/disease/0026007	0026007	618015		C4693947		caseinolytic mitochondrial matrix peptidase chaperone subunit X	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Protoporphyria, erythropoietic, 2"	1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		CACNA1G	CACNA1G	https://raresource.nih.gov/literature/disease/0026008	0026008	618087		C4748120		calcium voltage-gated channel subunit alpha1 G	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	None
MED12-related intellectual disability syndrome	med12 x-linked syndromic intellectual disability//x-linked syndromic intellectual disability caused by mutation in med12	MED12	MED12	https://raresource.nih.gov/literature/disease/0026013	0026013			CN305246		mediator complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MED12-related intellectual disability syndrome"	None
CDKL5 disorder	cdkl5 deficiency disorder//cdkl5 inherited genetic disease//inherited genetic disease caused by mutation in cdkl5	CDKL5	CDKL5	https://raresource.nih.gov/literature/disease/0026021	0026021			CN296942		cyclin dependent kinase like 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CDKL5 disorder"	233
FOXG1 disorder	foxg1 inherited genetic disease//foxg1 syndrome//foxg1 syndrome due to intragenic alteration//foxg1-related epileptic-dyskinetic encephalopathy//inherited genetic disease caused by mutation in foxg1//rett syndrome, congenital variant	FOXG1	FOXG1	https://raresource.nih.gov/literature/disease/0026022	0026022	613454	561854	C5681589		forkhead box G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FOXG1 disorder"	67
Usher syndrome, type 1D/F	usher syndrome type id/f//usher syndrome type id/f, cdh23/pcdh15, digenic//usher syndrome, type 1d/f, cdh23/pcdh15, digenic	CDH23;PCDH15	CDH23;PCDH15	https://raresource.nih.gov/literature/disease/0026025	0026025			CN121478		cadherin related 23; protocadherin related 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome, type 1D/F"	1
Hypervalinemia and hyperleucine-isoleucinemia	branched-chain aminotransferase deficiency//hvli//hypervalinemia or hyperleucine-isoleucinemia	BCAT2	BCAT2	https://raresource.nih.gov/literature/disease/0026028	0026028	618850		C5394277		branched chain amino acid transaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypervalinemia and hyperleucine-isoleucinemia"	1
PRPS1 deficiency disorder	prps1-related cmtx5/arts syndrome/xlnshl	PRPS1	PRPS1	https://raresource.nih.gov/literature/disease/0026031	0026031					phosphoribosyl pyrophosphate synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PRPS1 deficiency disorder"	None
Developmental and epileptic encephalopathy, 6A	dee6a//developmental and epileptic encephalopathy, 6//early infantile epileptic encephalopathy 6//eiee6//epileptic encephalopathy, early infantile, 6//scn1a-related intractable childhood epilepsy with generalized tonic-clonic seizures//scn1a-related severe myoclonic epilepsy in infancy	SCN1A	SCN1A	https://raresource.nih.gov/literature/disease/0026036	0026036			CN293401		sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 6A"	None
LEOPARD syndrome 1	lentiginosis, cardiomyopathic//leopard syndrome type 1//lprd1//ptpn11-related leopard syndrome	PTPN11	PTPN11	https://raresource.nih.gov/literature/disease/0026037	0026037			C4551484		protein tyrosine phosphatase non-receptor type 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LEOPARD syndrome 1"	1
Alpha-actinopathy	acta1 disease//actinopathy	ACTA1	ACTA1	https://raresource.nih.gov/literature/disease/0026038	0026038			CN295279		actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-actinopathy"	22
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	dyserythropoietic anemia and thrombocytopenia//gata 1 related cytopenia//gata 1 related x linked cytopenia//gata1-related cytopenia//gata1-related x-linked cytopenia//x linked macrothrombocytopenia	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0026040	0026040			C1845837		GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GATA binding protein 1 related thrombocytopenia with dyserythropoiesis"	3
Congenital alveolar dysplasia due to FGF10	cad due to fgf10	FGF10	FGF10	https://raresource.nih.gov/literature/disease/0026041	0026041			CN305464		fibroblast growth factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital alveolar dysplasia due to FGF10"	None
Myoclonus, familial, 2	myocl2	SCN8A	SCN8A	https://raresource.nih.gov/literature/disease/0026042	0026042	618364		C5193056		sodium voltage-gated channel alpha subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonus, familial, 2"	None
Myoclonus, familial, 1	familial myoclonus of cerebral cortex//fcm//myocl1	NOL3	NOL3	https://raresource.nih.gov/literature/disease/0026043	0026043			C3539916		nucleolar protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonus, familial, 1"	27
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome//condsias	ADPRS	ADPRS	https://raresource.nih.gov/literature/disease/0026044	0026044	618170		C4748527		ADP-ribosylserine hydrolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"	10
Congenital alveolar dysplasia due to TBX4	cad due to tbx4	TBX4	TBX4	https://raresource.nih.gov/literature/disease/0026045	0026045			CN305465		T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital alveolar dysplasia due to TBX4"	None
SELENON-related myopathy	sepn1-related myopathy	SELENON	SELENON	https://raresource.nih.gov/literature/disease/0026047	0026047			CN327047		selenoprotein N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SELENON-related myopathy"	35
Fetal akinesia deformation sequence 1	arthrogryposis multiplex congenita, pulmonary hypoplasia syndrome//early severe fetal akinesia sequence//early severe foetal akinesia sequence//fads//fads - fetal akinesia deformation sequence//fads1//fetal akinesia//fetal akinesia sequence//foetal akinesia//foetal akinesia sequence//pena-shokeir syndrome type 1//pena-shokeir syndrome type i//pena-shokeir syndrome, type 1	MUSK	MUSK	https://raresource.nih.gov/literature/disease/0026048	0026048	208150	994	C1276035		muscle associated receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal akinesia deformation sequence 1"	207
Brain small vessel disease 3	bsvd3	COLGALT1	COLGALT1	https://raresource.nih.gov/literature/disease/0026049	0026049	618360		C5193053		collagen beta(1-O)galactosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain small vessel disease 3"	1
TPM3-related myopathy	congenital myopathy related to tpm3//tpm3 myopathy	TPM3	TPM3	https://raresource.nih.gov/literature/disease/0026050	0026050			CN323193		tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TPM3-related myopathy"	5
Knobloch syndrome 2	kno2	PAK2	PAK2	https://raresource.nih.gov/literature/disease/0026052	0026052	618458		C5676897		p21 (RAC1) activated kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Knobloch syndrome 2"	4
SCN4A-related myopathy, autosomal recessive	congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis//congenital myopathy with severe fetal hypokinesia//congenital myopathy with severe foetal hypokinesia//myopathy with ptosis and mild dystrophic pattern	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0026053	0026053			CN294783		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SCN4A-related myopathy, autosomal recessive"	205
GNPTAB-mucolipidosis	gnptab-related disorder//udp-n-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency	GNPTAB	GNPTAB	https://raresource.nih.gov/literature/disease/0026054	0026054			CN322573		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GNPTAB-mucolipidosis"	None
NAA10-related syndrome	naa10 x-linked syndromic intellectual disability//x-linked syndromic intellectual disability caused by mutation in naa10	NAA10	NAA10	https://raresource.nih.gov/literature/disease/0026055	0026055			CN294784		N-alpha-acetyltransferase 10, NatA catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NAA10-related syndrome"	10
P5CS deficiency	delta1-pyrroline-5-carboxylate synthetase deficiency	ALDH18A1	ALDH18A1	https://raresource.nih.gov/literature/disease/0026056	0026056			CN294786		aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=P5CS deficiency"	7
X-linked recessive mitochondrial myopathy	x-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features	APOO	APOO	https://raresource.nih.gov/literature/disease/0026061	0026061			CN294792		apolipoprotein O	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked recessive mitochondrial myopathy"	3
ATP6AP2-related disorder		ATP6AP2	ATP6AP2	https://raresource.nih.gov/literature/disease/0026062	0026062			CN294805		ATPase H+ transporting accessory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ATP6AP2-related disorder"	None
RYR1-related myopathy	neurological muscular channelopathy due to a genetic ryanodine receptor defect	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0026064	0026064		98742	CN305348		ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RYR1-related myopathy"	20
DKC1-related disorder	dkc1-related condition	DKC1	DKC1	https://raresource.nih.gov/literature/disease/0026065	0026065			CN294808		dyskerin pseudouridine synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DKC1-related disorder"	None
Imerslund-Grasbeck syndrome type 1	igs1//imerslund-grasbeck syndrome 1//imerslund-gräsbeck syndrome 1//megaloblastic anaemia type 1//megaloblastic anemia 1//megaloblastic anemia 1, finnish type//megaloblastic anemia type 1//megaloblastic anemia, 1//megaloblastic anemia, finnish type//mga-1//mga1	CUBN	CUBN	https://raresource.nih.gov/literature/disease/0026066	0026066			C4016819		cubilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Imerslund-Grasbeck syndrome type 1"	12
Imerslund-Grasbeck syndrome type 2	imerslund-grasbeck syndrome 2//imerslund-gräsbeck syndrome 2//megaloblastic anemia 1, norwegian type//megaloblastic anemia, norwegian type	AMN	AMN	https://raresource.nih.gov/literature/disease/0026067	0026067	618882		C4016948		amnion associated transmembrane protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Imerslund-Grasbeck syndrome type 2"	None
Permanent neonatal diabetes mellitus 1	diabetes mellitus, permanent neonatal 1//gck-related permanent neonatal diabetes mellitus//pndm1	GCK	GCK	https://raresource.nih.gov/literature/disease/0026070	0026070			C5393570		glucokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Permanent neonatal diabetes mellitus 1"	None
Desmoid tumor caused by somatic mutation	desmoid tumor, somatic	APC	APC	https://raresource.nih.gov/literature/disease/0026071	0026071			C2675440		APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmoid tumor caused by somatic mutation"	None
TTN-related myopathy	congenital myopathy related to ttn//ttn myopathy	TTN	TTN	https://raresource.nih.gov/literature/disease/0026073	0026073			CN294812		titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TTN-related myopathy"	3
GTP cyclohydrolase I deficiency	gtp - guanosine-5-triphosphate cyclohydrolase deficiency//gtp cyclohydrolase 1 deficiency (gtpch)//gtp cyclohydrolase 1-related disorders//guanosine triphosphate (gtp) cyclohydrolase i deficiency//guanosine triphosphate cyclohydrolase i deficiency//guanosine-5-triphosphate cyclohydrolase deficiency//hyperphenylalaninemia with neopterin deficiency	GCH1	GCH1	https://raresource.nih.gov/literature/disease/0026074	0026074			C0268467		GTP cyclohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GTP cyclohydrolase I deficiency"	25
Immunodeficiency 102	imd102//sash3 deficiency//x-linked cid due to sash3 deficiency//x-linked combined immunodeficiency due to sash3 deficiency	SASH3	SASH3	https://raresource.nih.gov/literature/disease/0026075	0026075	301082	653751	C5676886		SAM and SH3 domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 102"	3
Combined ApoA-I and ApoC-III deficiency		APOA1;APOC3	APOA1;APOC3	https://raresource.nih.gov/literature/disease/0026076	0026076			CN294815		apolipoprotein A1; apolipoprotein C3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined ApoA-I and ApoC-III deficiency"	None
TPM2-related myopathy	autosomal dominant tpm2-related myopathy//congenital myopathy related to tpm2//tpm2 myopathy	TPM2	TPM2	https://raresource.nih.gov/literature/disease/0026079	0026079			CN294818		tropomyosin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TPM2-related myopathy"	1
Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate		CDH1	CDH1	https://raresource.nih.gov/literature/disease/0026080	0026080			CN306285		cadherin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate"	None
Arthrogryposis multiplex congenita 5	amc5	TOR1A	TOR1A	https://raresource.nih.gov/literature/disease/0026085	0026085	618947		C5436453		torsin family 1 member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 5"	2
A20 haploinsufficiency	ha20//ha20 (haploinsufficiency a20)//haploinsufficiency of a20	TNFAIP3	TNFAIP3	https://raresource.nih.gov/literature/disease/0026086	0026086			C5849639		TNF alpha induced protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=A20 haploinsufficiency"	101
ALS2-related motor neuron disease	alsin-related motor neuron disease	ALS2	ALS2	https://raresource.nih.gov/literature/disease/0026088	0026088			CN323278		alsin Rho guanine nucleotide exchange factor ALS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALS2-related motor neuron disease"	None
LAMA2-related muscular dystrophy	lama2-rd//laminin alpha 2-related dystrophy//laminin alpha-2 deficiency	LAMA2	LAMA2	https://raresource.nih.gov/literature/disease/0026089	0026089			C5679788		laminin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LAMA2-related muscular dystrophy"	63
FOXC1-related anterior segment dysgenesis		FOXC1	FOXC1	https://raresource.nih.gov/literature/disease/0026091	0026091			CN323279		forkhead box C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FOXC1-related anterior segment dysgenesis"	None
46,XX sex reversal 1	46,xx gonadal dysgenesis, complete, sry-positive//46,xx sex reversal type 1//46,xx sex reversal, sry-positive//46xx sex reversal 1, x-linked dominant//ovotesticular disorder of sex development//srxx1//sry-positive 46,xx testicular disorder of sex development	SRY	SRY	https://raresource.nih.gov/literature/disease/0026098	0026098			C2748895	D050090	sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX sex reversal 1"	54
CTNNA1-related diffuse gastric and lobular breast cancer syndrome		CTNNA1	CTNNA1	https://raresource.nih.gov/literature/disease/0026099	0026099			CN324029		catenin alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CTNNA1-related diffuse gastric and lobular breast cancer syndrome"	None
Phytanoyl-CoA hydroxylase deficiency	phyh deficiency//phyh related disorder of peroxisomal alpha oxidation	PHYH	PHYH	https://raresource.nih.gov/literature/disease/0026100	0026100			CN305474		phytanoyl-CoA 2-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phytanoyl-CoA hydroxylase deficiency"	3
Peroxisome biogenesis disorder due to PEX1 defect	pex1 related zellweger spectrum disorder	PEX1	PEX1	https://raresource.nih.gov/literature/disease/0026101	0026101			CN305475		peroxisomal biogenesis factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX1 defect"	None
Peroxisome biogenesis disorder due to PEX2 defect	pex2 related zellweger spectrum disorder	PEX2	PEX2	https://raresource.nih.gov/literature/disease/0026102	0026102			CN305476		peroxisomal biogenesis factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX2 defect"	None
Peroxisome biogenesis disorder due to PEX3 defect	pex3 related zellweger spectrum disorder	PEX3	PEX3	https://raresource.nih.gov/literature/disease/0026103	0026103			CN305477		peroxisomal biogenesis factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX3 defect"	None
Peroxisome biogenesis disorder due to PEX5 defect	pex5 related zellweger spectrum disorder	PEX5	PEX5	https://raresource.nih.gov/literature/disease/0026104	0026104			CN305478		peroxisomal biogenesis factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX5 defect"	None
Peroxisome biogenesis disorder due to PEX6 defect	pex6 related zellweger spectrum disorder	PEX6	PEX6	https://raresource.nih.gov/literature/disease/0026105	0026105			CN305479		peroxisomal biogenesis factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX6 defect"	None
Peroxisome biogenesis disorder due to PEX10 defect	pex10 related zellweger spectrum disorder	PEX10	PEX10	https://raresource.nih.gov/literature/disease/0026106	0026106			CN305480		peroxisomal biogenesis factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX10 defect"	None
Peroxisome biogenesis disorder due to PEX12 defect	pex12 related zellweger spectrum disorder	PEX12	PEX12	https://raresource.nih.gov/literature/disease/0026108	0026108			CN305482		peroxisomal biogenesis factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX12 defect"	None
Peroxisome biogenesis disorder due to PEX13 defect	pex13 related zellweger spectrum disorder	PEX13	PEX13	https://raresource.nih.gov/literature/disease/0026109	0026109			CN305483		peroxisomal biogenesis factor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX13 defect"	None
Peroxisome biogenesis disorder due to PEX14 defect	pex14 related zellweger spectrum disorder	PEX14	PEX14	https://raresource.nih.gov/literature/disease/0026110	0026110			CN305484		peroxisomal biogenesis factor 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX14 defect"	None
Peroxisome biogenesis disorder due to PEX16 defect	pex16 related zellweger spectrum disorder	PEX16	PEX16	https://raresource.nih.gov/literature/disease/0026111	0026111			CN305485		peroxisomal biogenesis factor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX16 defect"	None
Peroxisome biogenesis disorder due to PEX19 defect	pex19 related zellweger spectrum disorder	PEX19	PEX19	https://raresource.nih.gov/literature/disease/0026112	0026112			CN305486		peroxisomal biogenesis factor 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX19 defect"	None
Peroxisome biogenesis disorder due to PEX26 defect	pex26 related zellweger spectrum disorder	PEX26	PEX26	https://raresource.nih.gov/literature/disease/0026113	0026113			CN305487		peroxisomal biogenesis factor 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX26 defect"	None
Peroxisome biogenesis disorder due to PEX7 defect	pex7 related peroxisome biogenesis disorder	PEX7	PEX7	https://raresource.nih.gov/literature/disease/0026114	0026114			CN305488		peroxisomal biogenesis factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX7 defect"	None
Glyceronephosphate O-acyltransferase deficiency	gnpat deficiency	GNPAT	GNPAT	https://raresource.nih.gov/literature/disease/0026115	0026115			CN305378		glyceronephosphate O-acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glyceronephosphate O-acyltransferase deficiency"	3
Alkylglycerone-phosphate synthase deficiency	agps deficiency	AGPS	AGPS	https://raresource.nih.gov/literature/disease/0026116	0026116			CN305379		alkylglycerone phosphate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alkylglycerone-phosphate synthase deficiency"	1
Fatty acyl-CoA reductase defects	far1 defect	FAR1	FAR1	https://raresource.nih.gov/literature/disease/0026117	0026117			CN305489		fatty acyl-CoA reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatty acyl-CoA reductase defects"	None
Alanine glyoxylate aminotransferase deficiency	agxt defect//agxt deficiency	AGXT	AGXT	https://raresource.nih.gov/literature/disease/0026120	0026120			CN305373		alanine--glyoxylate aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alanine glyoxylate aminotransferase deficiency"	6
Peroxisome biogenesis disorder due to PEX11B defect	pex11b related peroxisome biogenesis disorder	PEX11B	PEX11B	https://raresource.nih.gov/literature/disease/0026121	0026121			CN305492		peroxisomal biogenesis factor 11 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisome biogenesis disorder due to PEX11B defect"	280
Macroglobulinemia, Waldenstrom, 1	macroglobulinemia, waldenstrom, somatic//macroglobulinemia, waldenstrom, susceptibility to, 1//waldenstrom's syndrome//wm1	MYD88	MYD88	https://raresource.nih.gov/literature/disease/0026122	0026122			C1835192		MYD88 innate immune signal transduction adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macroglobulinemia, Waldenstrom, 1"	7
Enhanced S-cone syndrome	enhanced s-cone syndrome 1//escs1	NR2E3	NR2E3	https://raresource.nih.gov/literature/disease/0026125	0026125			C1849394	C564835	nuclear receptor subfamily 2 group E member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Enhanced S-cone syndrome"	142
Carey-Fineman-Ziter syndrome 2	cfzs2	MYMX	MYMX	https://raresource.nih.gov/literature/disease/0026128	0026128	619941		C5677012		myomixer, myoblast fusion factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carey-Fineman-Ziter syndrome 2"	99
PAX5-related B lymphopenia and autism spectrum disorder	hypogammaglobulinemia and autism spectrum disorder	PAX5	PAX5	https://raresource.nih.gov/literature/disease/0026131	0026131			CN324033		paired box 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PAX5-related B lymphopenia and autism spectrum disorder"	None
LADD syndrome 1	fgfr2-related lacrimo-auriculo-dento-digital syndrome//lacrimoauriculodentodigital syndrome 1//ladd1	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0026132	0026132			C5774323		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LADD syndrome 1"	1
Bile acid CoA:amino acid N-acyltransferase deficiency	baat deficiency	BAAT	BAAT	https://raresource.nih.gov/literature/disease/0026134	0026134			CN305496		bile acid-CoA:amino acid N-acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bile acid CoA:amino acid N-acyltransferase deficiency"	2
GYG1-related disorder of glycogen metabolism		GYG1	GYG1	https://raresource.nih.gov/literature/disease/0026138	0026138			CN327100		glycogenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GYG1-related disorder of glycogen metabolism"	None
Long QT syndrome 1	long qt syndrome type 1//lqt1	KCNQ1	KCNQ1	https://raresource.nih.gov/literature/disease/0026140	0026140	192500		C4551647	D029597	potassium voltage-gated channel subfamily Q member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long QT syndrome 1"	212
Deficiency of adenosine deaminase 2	ada2 (adenosine deaminase 2) deficiency//adenosine deaminase 2 deficiency	ADA2	ADA2	https://raresource.nih.gov/literature/disease/0026141	0026141			C4289994		adenosine deaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deficiency of adenosine deaminase 2"	219
Friedreich ataxia 1	frda1//friedreich ataxia type 1	FXN	FXN	https://raresource.nih.gov/literature/disease/0026147	0026147			C1856689	C565561	frataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Friedreich ataxia 1"	1
Episodic kinesigenic dyskinesia 1	dystonia 10//dystonia, familial paroxysmal//ekd1//episodic kinesigenic dyskinesia caused by mutation in prrt2//episodic kinesigenic dyskinesia type 1//prrt2 episodic kinesigenic dyskinesia//pxmd-prrt2	PRRT2	PRRT2	https://raresource.nih.gov/literature/disease/0026152	0026152			C4552000	C537180	proline rich transmembrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic kinesigenic dyskinesia 1"	None
Ectodermal dysplasia WNT10A related		WNT10A	WNT10A	https://raresource.nih.gov/literature/disease/0026153	0026153			CN305516		Wnt family member 10A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectodermal dysplasia WNT10A related"	None
RPE65-related recessive retinopathy	recessive rpe65 retinopathy	RPE65	RPE65	https://raresource.nih.gov/literature/disease/0026155	0026155			CN305526		retinoid isomerohydrolase RPE65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RPE65-related recessive retinopathy"	None
ACTB-associated syndromic thrombocytopenia	actb-ast//thc8//thrombocytopenia 8, with dysmorphic features and developmental delay//thrombocytopenia, autosomal dominant, 8	ACTB	ACTB	https://raresource.nih.gov/literature/disease/0026211	0026211	620475	674653	C5882677		actin beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACTB-associated syndromic thrombocytopenia"	1
Schwartz-Jampel syndrome type 1	myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities//sja syndrome//sjs1	HSPG2	HSPG2	https://raresource.nih.gov/literature/disease/0026212	0026212			C4551479		heparan sulfate proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schwartz-Jampel syndrome type 1"	5
RPGR-related retinopathy	rpgr retinopathy	RPGR	RPGR	https://raresource.nih.gov/literature/disease/0026213	0026213			CN305589		retinitis pigmentosa GTPase regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RPGR-related retinopathy"	3
AIPL1-related retinopathy	aipl1 retinopathy	AIPL1	AIPL1	https://raresource.nih.gov/literature/disease/0026214	0026214			CN305590		AIP like 1 HSP90 co-chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AIPL1-related retinopathy"	None
RP2-related retinopathy	rp2 retinopathy	RP2	RP2	https://raresource.nih.gov/literature/disease/0026217	0026217			CN305592		RP2 activator of ARL3 GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RP2-related retinopathy"	1
RDH5-related retinopathy	rdh5 retinopathy	RDH5	RDH5	https://raresource.nih.gov/literature/disease/0026218	0026218			CN305593		retinol dehydrogenase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RDH5-related retinopathy"	4
RLBP1-related retinopathy	rlbp1 retinopathy	RLBP1	RLBP1	https://raresource.nih.gov/literature/disease/0026219	0026219			CN305594		retinaldehyde binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RLBP1-related retinopathy"	None
LCA5-related retinopathy	lca5 retinopathy	LCA5	LCA5	https://raresource.nih.gov/literature/disease/0026220	0026220			CN305595		lebercilin LCA5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LCA5-related retinopathy"	None
CNGB3-related retinopathy	cngb3 retinopathy	CNGB3	CNGB3	https://raresource.nih.gov/literature/disease/0026221	0026221			CN305596		cyclic nucleotide gated channel subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CNGB3-related retinopathy"	None
ATF6-related retinopathy	atf6 retinopathy	ATF6	ATF6	https://raresource.nih.gov/literature/disease/0026222	0026222			CN305597		activating transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ATF6-related retinopathy"	None
RAB28-related retinopathy	rab28 retinopathy	RAB28	RAB28	https://raresource.nih.gov/literature/disease/0026223	0026223			CN305598		RAB28, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RAB28-related retinopathy"	None
FLVCR1-related retinopathy with or without ataxia	flvcr1 retinopathy with or without ataxia	FLVCR1	FLVCR1	https://raresource.nih.gov/literature/disease/0026224	0026224			CN305599		FLVCR choline and heme transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FLVCR1-related retinopathy with or without ataxia"	None
CEP290-related ciliopathy	cep290 ciliopathy	CEP290	CEP290	https://raresource.nih.gov/literature/disease/0026225	0026225			CN305601		centrosomal protein 290	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CEP290-related ciliopathy"	2
RPE65-related dominant retinopathy	dominant rpe65 retinopathy//rp87	RPE65	RPE65	https://raresource.nih.gov/literature/disease/0026226	0026226			CN305602		retinoid isomerohydrolase RPE65	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RPE65-related dominant retinopathy"	1
GUCY2D retinopathy	retinopathy caused by mutation in gucy2d	GUCY2D	GUCY2D	https://raresource.nih.gov/literature/disease/0026228	0026228			CN305604		guanylate cyclase 2D, retinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GUCY2D retinopathy"	None
Batten-Turner congenital myopathy	myotonia congenita	CLCN1	CLCN1	https://raresource.nih.gov/literature/disease/0026232	0026232	255300		C0027127	D009224	chloride voltage-gated channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Batten-Turner congenital myopathy"	453
TSPAN12-related vitreoretinopathy		TSPAN12	TSPAN12	https://raresource.nih.gov/literature/disease/0026242	0026242			CN306841		tetraspanin 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TSPAN12-related vitreoretinopathy"	None
TPM4-related platelet disorder	tpm4-related platelet dysfunction with or without thrombocytopenia	TPM4	TPM4	https://raresource.nih.gov/literature/disease/0026243	0026243			CN311520		tropomyosin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TPM4-related platelet disorder"	None
CDH1-related diffuse gastric and lobular breast cancer syndrome	cdh1-related diffuse gastric and lobular breast cancer//dglbc//diffuse gastric and lobular breast cancer syndrome//gastric cancer, familial diffuse breast cancer, lobular//gastric cancer, hereditary diffuse//hdgc//lbc	CDH1	CDH1	https://raresource.nih.gov/literature/disease/0026244	0026244			CN311521		cadherin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CDH1-related diffuse gastric and lobular breast cancer syndrome"	365
Generalized pustular psoriasis	acute generalized pustular psoriasis//generalized pustular psoriasis of von zumbusch//gpp	AP1S3;IL36RN	AP1S3;IL36RN	https://raresource.nih.gov/literature/disease/0026245	0026245		247353	C0343055		adaptor related protein complex 1 subunit sigma 3; interleukin 36 receptor antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized pustular psoriasis"	1003
UROD-related inherited porphyria		UROD	UROD	https://raresource.nih.gov/literature/disease/0026251	0026251			CN315923		uroporphyrinogen decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UROD-related inherited porphyria"	None
NTHL1-deficiency tumor predisposition syndrome		NTHL1	NTHL1	https://raresource.nih.gov/literature/disease/0026254	0026254			CN315924		nth like DNA glycosylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NTHL1-deficiency tumor predisposition syndrome"	None
PSAP-related sphingolipidosis		PSAP	PSAP	https://raresource.nih.gov/literature/disease/0026261	0026261			CN324034		prosaposin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PSAP-related sphingolipidosis"	None
ASAH1-related sphingolipidosis	asah1-related disorders	ASAH1	ASAH1	https://raresource.nih.gov/literature/disease/0026262	0026262			CN375562		N-acylsphingosine amidohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ASAH1-related sphingolipidosis"	2
Myopathy caused by variation in CRPPA		CRPPA	CRPPA	https://raresource.nih.gov/literature/disease/0026264	0026264			CN375900		CDP-L-ribitol pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in CRPPA"	None
Emery-Dreifuss muscular dystrophy 1, X-linked	edmd1//emd1//humeroperoneal neuromuscular disease//muscular dystrophy, tardive, dreifuss-emery type, with contractures//scapuloperoneal syndrome, x-linked	EMD	EMD	https://raresource.nih.gov/literature/disease/0026265	0026265			C5243475		emerin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-Dreifuss muscular dystrophy 1, X-linked"	17
Plasminogen deficiency, type II	plasminogen deficiency, type 2	PLG	PLG	https://raresource.nih.gov/literature/disease/0026269	0026269			CN376808		plasminogen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Plasminogen deficiency, type II"	None
Dysplasminogenemia		PLG	PLG	https://raresource.nih.gov/literature/disease/0026270	0026270			C4225445		plasminogen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysplasminogenemia"	28
Primary open angle glaucoma	chronic simple glaucoma//coag - chronic open-angle glaucoma//csg - chronic simple glaucoma//glaucoma 1, open angle, e//optn-related open angle glaucoma//poag//poag - primary open-angle glaucoma	OPTN	OPTN	https://raresource.nih.gov/literature/disease/0026277	0026277	137760		C0339573		optineurin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary open angle glaucoma"	286
ALG14-congenital disorder of glycosylation	alg14-cdg	ALG14	ALG14	https://raresource.nih.gov/literature/disease/0026279	0026279			CN377747		ALG14 UDP-N-acetylglucosaminyltransferase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG14-congenital disorder of glycosylation"	None
HBA1-related alpha thalassemia spectrum		HBA1	HBA1	https://raresource.nih.gov/literature/disease/0026280	0026280			CN377748		hemoglobin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HBA1-related alpha thalassemia spectrum"	None
HBA2-related alpha thalassemia spectrum		HBA2	HBA2	https://raresource.nih.gov/literature/disease/0026281	0026281			CN377749		hemoglobin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HBA2-related alpha thalassemia spectrum"	205
SEC61B-related polycystic liver disease		SEC61B	SEC61B	https://raresource.nih.gov/literature/disease/0026290	0026290			CN305611		SEC61 translocon subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SEC61B-related polycystic liver disease"	None
Glutaminase deficiency		GLS	GLS	https://raresource.nih.gov/literature/disease/0026291	0026291			CN305612		glutaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaminase deficiency"	10
Acinar dysplasia caused by mutation in FGF10	fgf10 acinar dysplasia//fgf10 related acinar dysplasia	FGF10	FGF10	https://raresource.nih.gov/literature/disease/0026298	0026298			CN305619		fibroblast growth factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acinar dysplasia caused by mutation in FGF10"	None
Acinar dysplasia caused by mutation in FGFR2	fgfr2 acinar dysplasia//fgfr2 related acinar dysplasia	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0026299	0026299			CN305620		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acinar dysplasia caused by mutation in FGFR2"	None
Acinar dysplasia caused by mutation in TBX4	tbx4 acinar dysplasia//tbx4 related acinar dysplasia	TBX4	TBX4	https://raresource.nih.gov/literature/disease/0026300	0026300			CN305621		T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acinar dysplasia caused by mutation in TBX4"	None
ALG9-associated autosomal dominant polycystic kidney disease	alg9 autosomal dominant polycystic kidney disease//alg9 related autosomal dominant polycystic kidney disease//alg9-associated adpkd//autosomal dominant polycystic kidney disease - alg9//autosomal dominant polycystic kidney disease caused by mutation in alg9	ALG9	ALG9	https://raresource.nih.gov/literature/disease/0026304	0026304			CN305626		ALG9 alpha-1,2-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG9-associated autosomal dominant polycystic kidney disease"	None
Myopathy caused by variation in FKRP	fkrp myopathy//fkrp-related myopathy//myopathy caused by mutation in fkrp	FKRP	FKRP	https://raresource.nih.gov/literature/disease/0026339	0026339			CN305637		fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in FKRP"	1
Myopathy caused by variation in FKTN	fktn myopathy//fktn-related myopathy//myopathy caused by mutation in fktn	FKTN	FKTN	https://raresource.nih.gov/literature/disease/0026340	0026340			CN305638		fukutin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in FKTN"	1
Myopathy caused by variation in POMGNT1	myopathy caused by mutation in pomgnt1//pomgnt1 myopathy//pomgnt1-related myopathy	POMGNT1	POMGNT1	https://raresource.nih.gov/literature/disease/0026341	0026341			CN305639		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in POMGNT1"	None
Myopathy caused by variation in POMGNT2	myopathy caused by mutation in pomgnt2//pomgnt2 myopathy//pomgnt2-related myopathy	POMGNT2	POMGNT2	https://raresource.nih.gov/literature/disease/0026342	0026342			CN305640		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in POMGNT2"	None
Myopathy caused by variation in POMT1	myopathy caused by mutation in pomt1//pomt1 myopathy//pomt1-related myopathy	POMT1	POMT1	https://raresource.nih.gov/literature/disease/0026343	0026343			CN305641		protein O-mannosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in POMT1"	None
Myopathy caused by variation in POMT2	myopathy caused by mutation in pomt2//pomt2 myopathy//pomt2-related myopathy	POMT2	POMT2	https://raresource.nih.gov/literature/disease/0026344	0026344			CN305642		protein O-mannosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in POMT2"	None
Glutaric acidemia IIa	etfa deficiency//ga2a//glutaric acidemia 2a//multiple acyl-coa dehydrogenase deficiency caused by mutation in etfa	ETFA	ETFA	https://raresource.nih.gov/literature/disease/0026345	0026345			C3278154		electron transfer flavoprotein subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaric acidemia IIa"	1
Glutaric acidemia IIb	etfb deficiency//ga2b//glutaric acidemia 2b//multiple acyl-coa dehydrogenase deficiency caused by mutation in etfb	ETFB	ETFB	https://raresource.nih.gov/literature/disease/0026346	0026346			C3278155		electron transfer flavoprotein subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaric acidemia IIb"	1
Glutaric acidemia IIc	etfdh deficiency//ga2c//glutaric acidemia 2c//multiple acyl-coa dehydrogenase deficiency caused by mutation in etfdh	ETFDH	ETFDH	https://raresource.nih.gov/literature/disease/0026348	0026348			C3278156		electron transfer flavoprotein dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaric acidemia IIc"	4
Myopathy caused by variation in GMPPB	gmppb-related myopathy//myopathy caused by mutation in gmppb	GMPPB	GMPPB	https://raresource.nih.gov/literature/disease/0026352	0026352			CN305644		GDP-mannose pyrophosphorylase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy caused by variation in GMPPB"	1
Paroxysmal nonkinesigenic dyskinesia 1	dystonia 8//familial paroxysmal nonkinesigenic dyskinesia//nonkinesigenic choreoathetosis//paroxysmal dyskinesia caused by mutation in pnkd//paroxysmal nonkinesigenic dyskinesia type 1//pnkd paroxysmal dyskinesia//pnkd1//pxmd-pnkd	PNKD	PNKD	https://raresource.nih.gov/literature/disease/0026355	0026355			C4551506		PNKD metallo-beta-lactamase domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal nonkinesigenic dyskinesia 1"	3
Epilepsy, familial temporal lobe, 1	adlte//adpeaf//autosomal dominant partial epilepsy with auditory features//epilepsy, familial temporal lobe, type 1//epilepsy, lateral temporal lobe, autosomal dominant//epilepsy, partial, with auditory features//etl1	RELN;MICAL1;LGI1	RELN;MICAL1;LGI1	https://raresource.nih.gov/literature/disease/0026356	0026356			CN030884		reelin; microtubule associated monooxygenase, calponin and LIM domain containing 1; leucine rich glioma inactivated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, familial temporal lobe, 1"	80
Heterotaxy, visceral, 5, autosomal	heterotaxy, visceral, 5//htx5//nodal visceral heterotaxy//situs inversus viscerum//siv//visceral heterotaxy caused by mutation in nodal	NODAL	NODAL	https://raresource.nih.gov/literature/disease/0026361	0026361	270100		C3495537		nodal growth differentiation factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 5, autosomal"	1443
Microcephaly with lissencephaly and/or hydranencephaly		NDE1	NDE1	https://raresource.nih.gov/literature/disease/0026362	0026362			CN322584		nudE neurodevelopment protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly with lissencephaly and/or hydranencephaly"	None
SLC6A3-related dopamine transporter deficiency syndrome	dopamine transporter deficiency syndrome//dtds	SLC6A3	SLC6A3	https://raresource.nih.gov/literature/disease/0026363	0026363			CN322585		solute carrier family 6 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SLC6A3-related dopamine transporter deficiency syndrome"	26
PDE6A-related retinopathy		PDE6A	PDE6A	https://raresource.nih.gov/literature/disease/0026376	0026376			CN375901		phosphodiesterase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PDE6A-related retinopathy"	None
ELOVL4-related maculopathy		ELOVL4	ELOVL4	https://raresource.nih.gov/literature/disease/0026377	0026377			CN375902		ELOVL fatty acid elongase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ELOVL4-related maculopathy"	None
LRP5-related exudative vitreoretinopathy	lrp5-related exudative vitreoretinopathy with or without osteoporosis	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0026378	0026378			CN375903		LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LRP5-related exudative vitreoretinopathy"	None
MAK-related retinopathy		MAK	MAK	https://raresource.nih.gov/literature/disease/0026379	0026379			CN375904		male germ cell associated kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MAK-related retinopathy"	None
KIZ-related retinopathy		KIZ	KIZ	https://raresource.nih.gov/literature/disease/0026381	0026381			CN375907		kizuna centrosomal protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KIZ-related retinopathy"	None
TOPORS-related retinopathy		TOPORS	TOPORS	https://raresource.nih.gov/literature/disease/0026382	0026382			CN375908		TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TOPORS-related retinopathy"	None
PRPF8-related retinopathy		PRPF8	PRPF8	https://raresource.nih.gov/literature/disease/0026383	0026383			CN375909		pre-mRNA processing factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PRPF8-related retinopathy"	None
RD3-related retinopathy		RD3	RD3	https://raresource.nih.gov/literature/disease/0026384	0026384			CN375910		RD3 regulator of GUCY2D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RD3-related retinopathy"	None
BBS9-related ciliopathy		BBS9	BBS9	https://raresource.nih.gov/literature/disease/0026385	0026385			CN375911		Bardet-Biedl syndrome 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS9-related ciliopathy"	None
BBS10-related ciliopathy		BBS10	BBS10	https://raresource.nih.gov/literature/disease/0026386	0026386			CN375912		Bardet-Biedl syndrome 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS10-related ciliopathy"	None
BEST1-related dominant retinopathy		BEST1	BEST1	https://raresource.nih.gov/literature/disease/0026387	0026387			CN375913		bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BEST1-related dominant retinopathy"	None
BEST1-related recessive retinopathy		BEST1	BEST1	https://raresource.nih.gov/literature/disease/0026388	0026388			CN375914		bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BEST1-related recessive retinopathy"	None
BEST1-related vitreoretinochoroidopathy	advric	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0026389	0026389			CN375915		bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BEST1-related vitreoretinochoroidopathy"	None
IMPG2-related recessive retinopathy		IMPG2	IMPG2	https://raresource.nih.gov/literature/disease/0026390	0026390			CN375916		interphotoreceptor matrix proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMPG2-related recessive retinopathy"	None
IMPG2-related dominant retinopathy		IMPG2	IMPG2	https://raresource.nih.gov/literature/disease/0026391	0026391			CN375917		interphotoreceptor matrix proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMPG2-related dominant retinopathy"	None
CACNA1F-related retinopathy		CACNA1F	CACNA1F	https://raresource.nih.gov/literature/disease/0026392	0026392			CN375918		calcium voltage-gated channel subunit alpha1 F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CACNA1F-related retinopathy"	None
CACNA2D4-related retinopathy		CACNA2D4	CACNA2D4	https://raresource.nih.gov/literature/disease/0026393	0026393			CN375919		calcium voltage-gated channel auxiliary subunit alpha2delta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CACNA2D4-related retinopathy"	None
Epidermolytic hyperkeratosis 2B, autosomal recessive	ehk2b	KRT10	KRT10	https://raresource.nih.gov/literature/disease/0026394	0026394			C5882753		keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolytic hyperkeratosis 2B, autosomal recessive"	None
Epidermolytic hyperkeratosis 2A, autosomal dominant	ehk2a	KRT10	KRT10	https://raresource.nih.gov/literature/disease/0026396	0026396	620150		C5882671		keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolytic hyperkeratosis 2A, autosomal dominant"	None
Epidermolytic hyperkeratosis 1	ehk1	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0026397	0026397	113800		C5781874		keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolytic hyperkeratosis 1"	None
TREX1-related type 1 interferonopathy		TREX1	TREX1	https://raresource.nih.gov/literature/disease/0026399	0026399			CN377542		three prime repair exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TREX1-related type 1 interferonopathy"	None
RNASEH2B-related type 1 interferonopathy		RNASEH2B	RNASEH2B	https://raresource.nih.gov/literature/disease/0026400	0026400			CN377543		ribonuclease H2 subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RNASEH2B-related type 1 interferonopathy"	None
RNASEH2C-related type 1 interferonopathy		RNASEH2C	RNASEH2C	https://raresource.nih.gov/literature/disease/0026401	0026401			CN377544		ribonuclease H2 subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RNASEH2C-related type 1 interferonopathy"	None
RNASEH2A-related type 1 interferonopathy		RNASEH2A	RNASEH2A	https://raresource.nih.gov/literature/disease/0026402	0026402			CN377545		ribonuclease H2 subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RNASEH2A-related type 1 interferonopathy"	None
SAMHD1-related type 1 interferonopathy		SAMHD1	SAMHD1	https://raresource.nih.gov/literature/disease/0026403	0026403			CN377546		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SAMHD1-related type 1 interferonopathy"	None
ADAR-related type 1 interferonopathy		ADAR	ADAR	https://raresource.nih.gov/literature/disease/0026404	0026404			CN377547		adenosine deaminase RNA specific	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ADAR-related type 1 interferonopathy"	None
IFIH1-related type 1 interferonopathy		IFIH1	IFIH1	https://raresource.nih.gov/literature/disease/0026405	0026405			CN377548		interferon induced with helicase C domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IFIH1-related type 1 interferonopathy"	None
RNU7-1-related type 1 interferonopathy		RNU7-1	RNU7-1	https://raresource.nih.gov/literature/disease/0026406	0026406			CN377549		RNA, U7 small nuclear 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RNU7-1-related type 1 interferonopathy"	None
BARD1-related cancer predisposition		BARD1	BARD1	https://raresource.nih.gov/literature/disease/0026407	0026407			CN377756		BRCA1 associated RING domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BARD1-related cancer predisposition"	None
BRCA1-related cancer predisposition		BRCA1	BRCA1	https://raresource.nih.gov/literature/disease/0026408	0026408			CN377757		BRCA1 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BRCA1-related cancer predisposition"	None
BRCA2-related cancer predisposition		BRCA2	BRCA2	https://raresource.nih.gov/literature/disease/0026409	0026409			CN377758		BRCA2 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BRCA2-related cancer predisposition"	None
ATM-related cancer predisposition	atm-related cancer susceptibility	ATM	ATM	https://raresource.nih.gov/literature/disease/0026410	0026410			CN377759		ATM serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ATM-related cancer predisposition"	None
CHEK2-related cancer predisposition	cancer predisposition syndrome, chek2-related//chek2-related cancer susceptibility//tpds4//tumor predisposition syndrome 4	CHEK2	CHEK2	https://raresource.nih.gov/literature/disease/0026411	0026411	609265		C5882668		checkpoint kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHEK2-related cancer predisposition"	None
PALB2-related cancer predisposition		PALB2	PALB2	https://raresource.nih.gov/literature/disease/0026412	0026412			CN377761		partner and localizer of BRCA2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PALB2-related cancer predisposition"	None
RAD51C-related cancer predisposition		RAD51C	RAD51C	https://raresource.nih.gov/literature/disease/0026413	0026413			CN377762		RAD51 paralog C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RAD51C-related cancer predisposition"	None
RAD51D-related cancer predisposition		RAD51D	RAD51D	https://raresource.nih.gov/literature/disease/0026414	0026414			CN377763		RAD51 paralog D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RAD51D-related cancer predisposition"	None
MELAS syndrome caused by mutation in MTTL1	mttl1 melas syndrome	MT-TL1	MT-TL1	https://raresource.nih.gov/literature/disease/0026415	0026415			CN312625		mitochondrially encoded tRNA-Leu (UUA/G) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTL1"	None
MELAS syndrome caused by mutation in MTTQ	mttq melas syndrome	MT-TQ	MT-TQ	https://raresource.nih.gov/literature/disease/0026416	0026416			CN312626		mitochondrially encoded tRNA-Gln (CAA/G)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTQ"	None
MELAS syndrome caused by mutation in MTTH	mtth melas syndrome	MT-TH	MT-TH	https://raresource.nih.gov/literature/disease/0026417	0026417			CN312627		mitochondrially encoded tRNA-His (CAU/C)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTH"	None
MELAS syndrome caused by mutation in MTTK	mttk melas syndrome	MT-TK	MT-TK	https://raresource.nih.gov/literature/disease/0026418	0026418			CN312628		mitochondrially encoded tRNA-Lys (AAA/G)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTK"	None
MELAS syndrome caused by mutation in MTTC	mttc melas syndrome	MT-TC	MT-TC	https://raresource.nih.gov/literature/disease/0026419	0026419			CN312629		mitochondrially encoded tRNA-Cys (UGU/C)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTC"	None
MELAS syndrome caused by mutation in MTTS1	mtts1 melas syndrome	MT-TS1	MT-TS1	https://raresource.nih.gov/literature/disease/0026420	0026420			CN312630		mitochondrially encoded tRNA-Ser (UCN) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTS1"	None
MELAS syndrome caused by mutation in MTND1	mtnd1 melas syndrome	MT-ND1	MT-ND1	https://raresource.nih.gov/literature/disease/0026421	0026421			CN312631		mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTND1"	None
MELAS syndrome caused by mutation in MTND5	mtnd5 melas syndrome	MT-ND5	MT-ND5	https://raresource.nih.gov/literature/disease/0026422	0026422			CN312632		mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTND5"	None
MELAS syndrome caused by mutation in MTND6	mtnd6 melas syndrome	MT-ND6	MT-ND6	https://raresource.nih.gov/literature/disease/0026423	0026423			CN312633		mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTND6"	None
MELAS syndrome caused by mutation in MTTS2	mtts2 melas syndrome	MT-TS2	MT-TS2	https://raresource.nih.gov/literature/disease/0026424	0026424			CN312634		mitochondrially encoded tRNA-Ser (AGU/C) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MELAS syndrome caused by mutation in MTTS2"	None
Restrictive dermopathy 1	foetal hypokinesia sequence due to restrictive dermopathy//restrictive dermopathy 1, lethal//rsdm1//tight skin contracture syndrome, lethal	ZMPSTE24	ZMPSTE24	https://raresource.nih.gov/literature/disease/0026425	0026425			C5676878	C536920	zinc metallopeptidase STE24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Restrictive dermopathy 1"	None
SNRNP200-related dominant retinopathy		SNRNP200	SNRNP200	https://raresource.nih.gov/literature/disease/0026431	0026431			CN315668		small nuclear ribonucleoprotein U5 subunit 200	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SNRNP200-related dominant retinopathy"	None
RDH12-related recessive retinopathy		RDH12	RDH12	https://raresource.nih.gov/literature/disease/0026432	0026432			CN315669		retinol dehydrogenase 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RDH12-related recessive retinopathy"	None
RDH12-related dominant retinopathy		RDH12	RDH12	https://raresource.nih.gov/literature/disease/0026433	0026433			CN315670		retinol dehydrogenase 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RDH12-related dominant retinopathy"	None
NMNAT1-related retinopathy		NMNAT1	NMNAT1	https://raresource.nih.gov/literature/disease/0026434	0026434			CN315671		nicotinamide nucleotide adenylyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NMNAT1-related retinopathy"	None
CNGA3-related retinopathy		CNGA3	CNGA3	https://raresource.nih.gov/literature/disease/0026435	0026435			CN315672		cyclic nucleotide gated channel subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CNGA3-related retinopathy"	None
Immunodeficiency 105	imd105//immunodeficiency 105, severe combined	PTPRC	PTPRC	https://raresource.nih.gov/literature/disease/0026436	0026436			C5677005		protein tyrosine phosphatase receptor type C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 105"	None
Autoinflammatory disease, X-linked	autoinflammatory disease, systemic, x-linked//autoinflammatory syndrome, x-linked//nemo deleted exon 5 syndrome	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0026447	0026447	301081		C5676885		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory disease, X-linked"	None
Autoinflammatory syndrome with immunodeficiency	autoinflammatory syndrome, familial, with or without immunodeficiency	SOCS1	SOCS1	https://raresource.nih.gov/literature/disease/0026448	0026448			C5543547		suppressor of cytokine signaling 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory syndrome with immunodeficiency"	None
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant	hies4a//hyper-ige syndrome 4a, autosomal dominant, with recurrent infections	IL6ST	IL6ST	https://raresource.nih.gov/literature/disease/0026449	0026449			C5676920		interleukin 6 cytokine family signal transducer	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgE recurrent infection syndrome 4A, autosomal dominant"	None
Non-severe combined immunodeficiency due to COPG1 deficiency		COPG1	COPG1	https://raresource.nih.gov/literature/disease/0026452	0026452			CN322250		COPI coat complex subunit gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-severe combined immunodeficiency due to COPG1 deficiency"	None
Immunodeficiency, common variable, due to APRIL deficiency		TNFSF13	TNFSF13	https://raresource.nih.gov/literature/disease/0026461	0026461			CN322263		TNF superfamily member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, due to APRIL deficiency"	None
CPOX-related hereditary coproporphyria		CPOX	CPOX	https://raresource.nih.gov/literature/disease/0026471	0026471			CN322458		coproporphyrinogen oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CPOX-related hereditary coproporphyria"	None
OPA1-related optic atrophy with or without extraocular features		OPA1	OPA1	https://raresource.nih.gov/literature/disease/0026472	0026472			CN322459		OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=OPA1-related optic atrophy with or without extraocular features"	None
TEK-related primary glaucoma		TEK	TEK	https://raresource.nih.gov/literature/disease/0026473	0026473			CN322460		TEK receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TEK-related primary glaucoma"	None
PAX6-related ocular dysgenesis		PAX6	PAX6	https://raresource.nih.gov/literature/disease/0026474	0026474			CN322461		paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PAX6-related ocular dysgenesis"	None
Myoclonic epilepsy of Lafora 2	epilepsy, progressive myoclonic, 2b//epm2b//lafora disease 2//melf2	NHLRC1	NHLRC1	https://raresource.nih.gov/literature/disease/0026491	0026491	620681		C1850764		NHL repeat containing E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonic epilepsy of Lafora 2"	1
Congenital myopathy 4A, autosomal dominant	cap myopathy 1//capm1//cftd//cftdm//fiber-type disproportion myopathy, congenital//myopathy, congenital, with fiber-type disproportion//nem1//nemaline myopathy 1	TPM3	TPM3	https://raresource.nih.gov/literature/disease/0026509	0026509			CN178536		tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 4A, autosomal dominant"	72
EYS-related retinopathy		EYS	EYS	https://raresource.nih.gov/literature/disease/0026541	0026541			CN322597		eyes shut homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EYS-related retinopathy"	1
GNAT2-related retinopathy		GNAT2	GNAT2	https://raresource.nih.gov/literature/disease/0026542	0026542			CN322598		G protein subunit alpha transducin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GNAT2-related retinopathy"	None
IDH3B-related retinopathy		IDH3B	IDH3B	https://raresource.nih.gov/literature/disease/0026543	0026543			CN322599		isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IDH3B-related retinopathy"	None
MERTK-related retinopathy		MERTK	MERTK	https://raresource.nih.gov/literature/disease/0026544	0026544			CN322600		MER proto-oncogene, tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MERTK-related retinopathy"	1
PRPF31-related retinopathy		PRPF31	PRPF31	https://raresource.nih.gov/literature/disease/0026545	0026545			CN322601		pre-mRNA processing factor 31	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PRPF31-related retinopathy"	None
GPR179-related retinopathy		GPR179	GPR179	https://raresource.nih.gov/literature/disease/0026546	0026546			CN322602		G protein-coupled receptor 179	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GPR179-related retinopathy"	None
GRM6-related retinopathy		GRM6	GRM6	https://raresource.nih.gov/literature/disease/0026547	0026547			CN322603		glutamate metabotropic receptor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GRM6-related retinopathy"	None
ADAM9-related retinopathy		ADAM9	ADAM9	https://raresource.nih.gov/literature/disease/0026548	0026548			CN322604		ADAM metallopeptidase domain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ADAM9-related retinopathy"	None
RP1-related recessive retinopathy		RP1	RP1	https://raresource.nih.gov/literature/disease/0026549	0026549			CN322605		RP1 axonemal microtubule associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RP1-related recessive retinopathy"	None
RP1-related dominant retinopathy		RP1	RP1	https://raresource.nih.gov/literature/disease/0026550	0026550			CN322606		RP1 axonemal microtubule associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RP1-related dominant retinopathy"	None
CERKL-related retinopathy		CERKL	CERKL	https://raresource.nih.gov/literature/disease/0026551	0026551			CN322607		CERK like autophagy regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CERKL-related retinopathy"	1
TRPM1-related retinopathy	trpm1-related retinoapthy	TRPM1	TRPM1	https://raresource.nih.gov/literature/disease/0026552	0026552			CN322608		transient receptor potential cation channel subfamily M member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TRPM1-related retinopathy"	None
CNGB1-related retinopathy		CNGB1	CNGB1	https://raresource.nih.gov/literature/disease/0026553	0026553			CN322609		cyclic nucleotide gated channel subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CNGB1-related retinopathy"	1
CNGA1-related retinopathy		CNGA1	CNGA1	https://raresource.nih.gov/literature/disease/0026555	0026555			CN322611		cyclic nucleotide gated channel subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CNGA1-related retinopathy"	None
ABCA4-related retinopathy	abca4 retinoapthy//abca4-related retinoapthy	ABCA4	ABCA4	https://raresource.nih.gov/literature/disease/0026556	0026556			CN322612		ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABCA4-related retinopathy"	23
NYX-related retinopathy	nyx-related retinoapthy	NYX	NYX	https://raresource.nih.gov/literature/disease/0026557	0026557			CN322613		nyctalopin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NYX-related retinopathy"	None
Carey-Fineman-Ziter syndrome 1	cfzs1//myopathy, congenital nonprogressive, with moebius sequence and robin sequence	MYMK	MYMK	https://raresource.nih.gov/literature/disease/0026558	0026558			C5676876	C536102	myomaker, myoblast fusion factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carey-Fineman-Ziter syndrome 1"	None
NKX2.5-related congenital, conduction and myopathic heart disease		NKX2-5	NKX2-5	https://raresource.nih.gov/literature/disease/0026559	0026559			CN372093		NK2 homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NKX2.5-related congenital, conduction and myopathic heart disease"	None
NR2F2 related multiple congenital anomalies/dysmorphic syndrome	arp1-related multiple congenital anomalies/dysmorphic syndrome//couptfii-related multiple congenital anomalies/dysmorphic syndrome//tcoup2-related multiple congenital anomalies/dysmorphic syndrome	NR2F2	NR2F2	https://raresource.nih.gov/literature/disease/0026561	0026561			CN375922		nuclear receptor subfamily 2 group F member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NR2F2 related multiple congenital anomalies/dysmorphic syndrome"	None
FHL1-related myopathy		FHL1	FHL1	https://raresource.nih.gov/literature/disease/0026563	0026563			CN375923		four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FHL1-related myopathy"	4
KIF7-related ciliopathy		KIF7	KIF7	https://raresource.nih.gov/literature/disease/0026564	0026564			CN375924		kinesin family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KIF7-related ciliopathy"	None
SQSTM1-related multisystem proteinopathy		SQSTM1	SQSTM1	https://raresource.nih.gov/literature/disease/0026565	0026565			CN375925		sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SQSTM1-related multisystem proteinopathy"	None
CTSC-related disorder	ctsc-related condition	CTSC	CTSC	https://raresource.nih.gov/literature/disease/0026566	0026566			CN375926		cathepsin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CTSC-related disorder"	None
SCN4A-related channelopathy		SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0026568	0026568			CN375929		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SCN4A-related channelopathy"	None
ACD-related telomere biology disorder	acd-related telomeropathy	ACD	ACD	https://raresource.nih.gov/literature/disease/0026569	0026569			CN377765		ACD shelterin complex subunit and telomerase recruitment factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACD-related telomere biology disorder"	None
TUBB4A-related neurologic disorder		TUBB4A	TUBB4A	https://raresource.nih.gov/literature/disease/0026570	0026570			CN375930		tubulin beta 4A class IVa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TUBB4A-related neurologic disorder"	None
CYP1B1-related glaucoma with or without anterior segment dysgenesis		CYP1B1	CYP1B1	https://raresource.nih.gov/literature/disease/0026571	0026571			CN375931		cytochrome P450 family 1 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CYP1B1-related glaucoma with or without anterior segment dysgenesis"	None
SF3B4-related acrofacial dysostosis		SF3B4	SF3B4	https://raresource.nih.gov/literature/disease/0026574	0026574			CN375940		splicing factor 3b subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SF3B4-related acrofacial dysostosis"	None
PRKAG2-related cardiomyopathy	prkag2 cardiac syndrome//prkag2 cardiomyopathy//prkag2 syndrome	PRKAG2	PRKAG2	https://raresource.nih.gov/literature/disease/0026575	0026575			CN375941		protein kinase AMP-activated non-catalytic subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PRKAG2-related cardiomyopathy"	55
AKT3-related overgrowth spectrum		AKT3	AKT3	https://raresource.nih.gov/literature/disease/0026576	0026576			CN377766		AKT serine/threonine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AKT3-related overgrowth spectrum"	27
Breast implant-associated anaplastic large cell lymphoma	bia-alcl - breast implant-associated anaplastic large-cell lymphoma	JAK1	JAK1	https://raresource.nih.gov/literature/disease/0026577	0026577		667662	C4528210		Janus kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Breast implant-associated anaplastic large cell lymphoma"	420
Inclusion body myopathy and brain white matter abnormalities	ibmwma//multisystem proteinopathy 6	ANXA11	ANXA11	https://raresource.nih.gov/literature/disease/0026631	0026631	619733		C5676909		annexin A11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inclusion body myopathy and brain white matter abnormalities"	None
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome		AFF3	AFF3	https://raresource.nih.gov/literature/disease/0026641	0026641	619297	632603	C5816803		ALF transcription elongation factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"	None
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome		KDM3B	KDM3B	https://raresource.nih.gov/literature/disease/0026642	0026642	618846	633004	CN327111		lysine demethylase 3B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"	None
Intellectual disability-early-onset cataract-microcephaly syndrome		COPB1	COPB1	https://raresource.nih.gov/literature/disease/0026645	0026645	619255	633035	CN327114		COPI coat complex subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-early-onset cataract-microcephaly syndrome"	None
PAICS deficiency		PAICS	PAICS	https://raresource.nih.gov/literature/disease/0026646	0026646	619859	633099	CN327115		phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PAICS deficiency"	4
Rhabdomyosarcoma, embryonal, 2	rmse2	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0026652	0026652	180295		C1867234		dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhabdomyosarcoma, embryonal, 2"	None
Thrombophilia, X-linked, due to factor 8 defect	thrombophilia 13, x-linked, due to factor viii defect//thrombophilia, x-linked, due to factor viii defect	F8	F8	https://raresource.nih.gov/literature/disease/0026654	0026654	301071		C5676879		coagulation factor VIII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombophilia, X-linked, due to factor 8 defect"	None
Systemic lupus erythematosus 17	sleb17	TLR7	TLR7	https://raresource.nih.gov/literature/disease/0026655	0026655	301080		C5676884		toll like receptor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic lupus erythematosus 17"	None
Intellectual developmental disorder, X-linked 110	xlid110	FGF13	FGF13	https://raresource.nih.gov/literature/disease/0026656	0026656	301095		C5774180		fibroblast growth factor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked 110"	None
Blepharophimosis-impaired intellectual development syndrome	smarca2-related blepharophimosis-intellectual disability syndrome	SMARCA2	SMARCA2	https://raresource.nih.gov/literature/disease/0026657	0026657	619293	637013	C5443984		SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis-impaired intellectual development syndrome"	None
Marbach-Rustad progeroid syndrome	lemd2-associated nuclear envelopathy with early progeroid appearance//wormian bones-micrognathia-abnormal dentition-progeroid syndrome	LEMD2	LEMD2	https://raresource.nih.gov/literature/disease/0026658	0026658	619322	659873	C5543388		LEM domain nuclear envelope protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marbach-Rustad progeroid syndrome"	1
Dysostosis multiplex, Ain-Naz type		LYSET	LYSET	https://raresource.nih.gov/literature/disease/0026660	0026660	619345		C5444223		lysosomal enzyme trafficking factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysostosis multiplex, Ain-Naz type"	None
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy		MYL2	MYL2	https://raresource.nih.gov/literature/disease/0026661	0026661	619424		C5561937		myosin light chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy"	None
Hemolytic disease of fetus and newborn, RH-induced	rh disease//rh fetomaternal incompatibility	RHD	RHD	https://raresource.nih.gov/literature/disease/0026662	0026662	619462		C0748400		Rh blood group D antigen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic disease of fetus and newborn, RH-induced"	94
Sick sinus syndrome 4	sss4	GNB2	GNB2	https://raresource.nih.gov/literature/disease/0026663	0026663	619464		C5561949		G protein subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sick sinus syndrome 4"	None
Nephronophthisis-like nephropathy 2		SLC41A1	SLC41A1	https://raresource.nih.gov/literature/disease/0026664	0026664	619468		C5561953		solute carrier family 41 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephronophthisis-like nephropathy 2"	None
Cerebral cavernous malformation 4	cerebral cavernous malformations 4//familial cerebral cavernous malformation 4	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0026665	0026665	619538		C5561991		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral cavernous malformation 4"	None
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome	EXOSC5	EXOSC5	https://raresource.nih.gov/literature/disease/0026666	0026666	619576	641361	C5562005		exosome component 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia, brain abnormalities, and cardiac conduction defects"	None
Rhizomelic dysplasia, Ain-Naz type		GNPNAT1	GNPNAT1	https://raresource.nih.gov/literature/disease/0026667	0026667	619598		C5562013		glucosamine-phosphate N-acetyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rhizomelic dysplasia, Ain-Naz type"	None
Heterotaxy, visceral, 12, autosomal	htx12	CIROP	CIROP	https://raresource.nih.gov/literature/disease/0026669	0026669	619702		C5676898		ciliated left-right organizer metallopeptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 12, autosomal"	None
Congenital disorder of glycosylation, type Iw, autosomal dominant	cdg1wad	STT3A	STT3A	https://raresource.nih.gov/literature/disease/0026670	0026670	619714		C5562068		STT3 oligosaccharyltransferase complex catalytic subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type Iw, autosomal dominant"	None
Craniotubular dysplasia, Ikegawa type	ctdi	TMEM53	TMEM53	https://raresource.nih.gov/literature/disease/0026671	0026671	619727		C5575335		transmembrane protein 53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniotubular dysplasia, Ikegawa type"	6
Combined oxidative phosphorylation deficiency 55	coxpd55	POLRMT	POLRMT	https://raresource.nih.gov/literature/disease/0026672	0026672	619743		C5676915		RNA polymerase mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 55"	None
Epidermolysis bullosa, junctional 6, with pyloric atresia		ITGA6	ITGA6	https://raresource.nih.gov/literature/disease/0026673	0026673	619817		C5676957		integrin subunit alpha 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa, junctional 6, with pyloric atresia"	None
Agammaglobulinemia 8b, autosomal recessive	agammaglobulinemia, autosomal recessive, due to tcf3 defect	TCF3	TCF3	https://raresource.nih.gov/literature/disease/0026674	0026674	619824		C5676958		transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agammaglobulinemia 8b, autosomal recessive"	None
Auditory neuropathy, autosomal dominant 3	auna3	TMEM43	TMEM43	https://raresource.nih.gov/literature/disease/0026675	0026675	619832		C5676964		transmembrane protein 43	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auditory neuropathy, autosomal dominant 3"	None
3-methylglutaconic aciduria, type VIIA	3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant	CLPB	CLPB	https://raresource.nih.gov/literature/disease/0026676	0026676	619835		C5676967		ClpB family mitochondrial disaggregase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria, type VIIA"	None
Hypoalphalipoproteinemia, primary, 2, intermediate	hypoalphalipoproteinemia, primary, 2, autosomal dominant	APOA1	APOA1	https://raresource.nih.gov/literature/disease/0026677	0026677	619836		C5677030		apolipoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoalphalipoproteinemia, primary, 2, intermediate"	None
Leukodystrophy, hypomyelinating, 24	hld24	ATP11A	ATP11A	https://raresource.nih.gov/literature/disease/0026678	0026678	619851		C5676974		ATPase phospholipid transporting 11A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 24"	None
Spinocerebellar ataxia, autosomal recessive 32	scar32	PRDX3	PRDX3	https://raresource.nih.gov/literature/disease/0026679	0026679	619862		C5676978		peroxiredoxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia, autosomal recessive 32"	1
Leukodystrophy, childhood-onset, remitting	corlk	FBP2	FBP2	https://raresource.nih.gov/literature/disease/0026680	0026680	619864		C5676979		fructose-bisphosphatase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, childhood-onset, remitting"	None
Corneal dystrophy, punctiform and polychromatic pre-descemet		PRDX3	PRDX3	https://raresource.nih.gov/literature/disease/0026681	0026681	619871		C5676982		peroxiredoxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, punctiform and polychromatic pre-descemet"	None
Peripheral motor neuropathy, childhood-onset, biotin-responsive		SLC5A6	SLC5A6	https://raresource.nih.gov/literature/disease/0026682	0026682	619903		C5676997		solute carrier family 5 member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peripheral motor neuropathy, childhood-onset, biotin-responsive"	None
Congenital myopathy 11	myopathy, congenital, nonprogressive	HACD1	HACD1	https://raresource.nih.gov/literature/disease/0026683	0026683	619967		C3151531		3-hydroxyacyl-CoA dehydratase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 11"	None
Tumor predisposition syndrome 2	mans//mbd4-associated neoplasia syndrome//mbd4-related recessive tumor predisposition syndrome//tpds2	MBD4	MBD4	https://raresource.nih.gov/literature/disease/0026684	0026684	619975	661526	C5774186		methyl-CpG binding domain 4, DNA glycosylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tumor predisposition syndrome 2"	14
Spinal muscular atrophy, distal, autosomal recessive, 6	dsma6//hmnr6//neuronopathy, distal hereditary motor, autosomal recessive 6//neuropathy, distal hereditary motor, autosomal recessive 6	REEP1	REEP1	https://raresource.nih.gov/literature/disease/0026685	0026685	620011		C5774201		receptor accessory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy, distal, autosomal recessive, 6"	None
Neuronopathy, distal hereditary motor, autosomal dominant 10	neuronopathy, distal hereditary motor, type x//neuropathy, distal hereditary motor, type x	EMILIN1	EMILIN1	https://raresource.nih.gov/literature/disease/0026687	0026687			C5774234		elastin microfibril interfacer 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal dominant 10"	None
Retinitis pigmentosa 95		RAX2	RAX2	https://raresource.nih.gov/literature/disease/0026688	0026688	620102		C5774244		retina and anterior neural fold homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 95"	None
Spastic paraplegia 88, autosomal dominant		KPNA3	KPNA3	https://raresource.nih.gov/literature/disease/0026689	0026689	620106		C5774247		karyopherin subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 88, autosomal dominant"	None
Orofaciodigital syndrome 19	ofds xix//oral-facial-digital syndrome, type xix//orofaciodigital syndrome xix	SCNM1	SCNM1	https://raresource.nih.gov/literature/disease/0026690	0026690	620107		C5774248		sodium channel modifier 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome 19"	None
Charcot-Marie-Tooth disease, demyelinating, type 1J	charcot-marie-tooth neuropathy, demyelinating, type 1j	ITPR3	ITPR3	https://raresource.nih.gov/literature/disease/0026691	0026691	620111		C5774249		inositol 1,4,5-trisphosphate receptor type 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease, demyelinating, type 1J"	None
Developmental and epileptic encephalopathy 108	dee108	MAST3	MAST3	https://raresource.nih.gov/literature/disease/0026692	0026692	620115		C5774253		microtubule associated serine/threonine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 108"	None
Pseudohypoaldosteronism, type IB2, autosomal recessive	pha1b2	SCNN1B	SCNN1B	https://raresource.nih.gov/literature/disease/0026693	0026693	620125		C5774255		sodium channel epithelial 1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism, type IB2, autosomal recessive"	None
Pseudohypoaldosteronism, type IB3, autosomal recessive	pha1b3	SCNN1G	SCNN1G	https://raresource.nih.gov/literature/disease/0026694	0026694	620126		C5774256		sodium channel epithelial 1 subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoaldosteronism, type IB3, autosomal recessive"	None
Dyskeratosis congenita, autosomal recessive 8	dkcb8	DCLRE1B	DCLRE1B	https://raresource.nih.gov/literature/disease/0026695	0026695	620133		C5774257		DNA cross-link repair 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 8"	None
Mitochondrial complex I deficiency, nuclear type 39	mc1dn39	NDUFB7	NDUFB7	https://raresource.nih.gov/literature/disease/0026696	0026696	620135		C5774258		NADH:ubiquinone oxidoreductase subunit B7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex I deficiency, nuclear type 39"	None
Mitochondrial complex III deficiency, nuclear type 11	mitochondrial complex 3 deficiency, nuclear type 11	UQCRH	UQCRH	https://raresource.nih.gov/literature/disease/0026697	0026697	620137		C5774259		ubiquinol-cytochrome c reductase hinge protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex III deficiency, nuclear type 11"	None
Combined oxidative phosphorylation deficiency 56	coxpd56	TAMM41	TAMM41	https://raresource.nih.gov/literature/disease/0026698	0026698	620139		C5774261		TAM41 mitochondrial translocator assembly and maintenance homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 56"	None
Developmental and epileptic encephalopathy 109	dee109	FZR1	FZR1	https://raresource.nih.gov/literature/disease/0026699	0026699	620145		C5774263		fizzy and cell division cycle 20 related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 109"	None
Developmental and epileptic encephalopathy 110	dee110	CACNA2D1	CACNA2D1	https://raresource.nih.gov/literature/disease/0026700	0026700	620149		C5774265		calcium voltage-gated channel auxiliary subunit alpha2delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 110"	None
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	homg7	RRAGD	RRAGD	https://raresource.nih.gov/literature/disease/0026701	0026701			C5774266		Ras related GTP binding D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	None
Mosaic variegated aneuploidy syndrome 4	mva4	CENATAC	CENATAC	https://raresource.nih.gov/literature/disease/0026702	0026702	620153		C5774267		centrosomal AT-AC splicing factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome 4"	None
Spinocerebellar ataxia 50	sca50	NPTX1	NPTX1	https://raresource.nih.gov/literature/disease/0026703	0026703	620158		C5774272		neuronal pentraxin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 50"	None
Congenital myopathy 15	myopathy, congenital, with neonatal respiratory insufficiency	TNNC2	TNNC2	https://raresource.nih.gov/literature/disease/0026704	0026704	620161		C5774273		troponin C2, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 15"	None
Combined oxidative phosphorylation deficiency 57	coxpd57	CRLS1	CRLS1	https://raresource.nih.gov/literature/disease/0026705	0026705	620167		C5774275		cardiolipin synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 57"	None
Tooth agenesis, selective, 10	sthag10	TSPEAR	TSPEAR	https://raresource.nih.gov/literature/disease/0026706	0026706	620173		C5774277		thrombospondin type laminin G domain and EAR repeats	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tooth agenesis, selective, 10"	None
Spinocerebellar ataxia 27B, late-onset	sca27b	FGF14	FGF14	https://raresource.nih.gov/literature/disease/0026707	0026707	620174	675216	C5774278		fibroblast growth factor 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 27B, late-onset"	37
Microcephaly 30, primary, autosomal recessive	mcph30	BUB1	BUB1	https://raresource.nih.gov/literature/disease/0026708	0026708	620183		C5774280		BUB1 mitotic checkpoint serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly 30, primary, autosomal recessive"	None
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	mva7	MAD1L1	MAD1L1	https://raresource.nih.gov/literature/disease/0026709	0026709	620189		C5774284		mitotic arrest deficient 1 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition"	None
Ciliary dyskinesia, primary, 49, without situs inversus	cild49	CFAP74	CFAP74	https://raresource.nih.gov/literature/disease/0026710	0026710	620197		C5774291		cilia and flagella associated protein 74	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 49, without situs inversus"	None
Inflammatory poikiloderma with hair abnormalities and acral keratoses	iphak	LTV1	LTV1	https://raresource.nih.gov/literature/disease/0026711	0026711	620199		C5774293		LTV1 ribosome biogenesis factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory poikiloderma with hair abnormalities and acral keratoses"	None
Congenital disorder of glycosylation, type IIy	cdg iiy//cdg2y	GET4	GET4	https://raresource.nih.gov/literature/disease/0026712	0026712	620200		C5774294		guided entry of tail-anchored proteins factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIy"	None
Congenital disorder of glycosylation, type IIz	cdg iiz//cdg2z	CAMLG	CAMLG	https://raresource.nih.gov/literature/disease/0026713	0026713	620201		C5774295		calcium modulating ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIz"	None
Cardiomyopathy, dilated, 2H	cmd2h	GET3	GET3	https://raresource.nih.gov/literature/disease/0026714	0026714	620203		C5774296		guided entry of tail-anchored proteins factor 3, ATPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2H"	None
Hyperinsulinemic hypoglycemia, familial, 8	hhf8	SLC25A36	SLC25A36	https://raresource.nih.gov/literature/disease/0026716	0026716	620211		C5774299		solute carrier family 25 member 36	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinemic hypoglycemia, familial, 8"	None
Spastic paraplegia 79A, autosomal dominant, with ataxia	spastic paraplegia 79a, autosomal dominant//spg79a	UCHL1	UCHL1	https://raresource.nih.gov/literature/disease/0026717	0026717	620221		C5774300		ubiquitin C-terminal hydrolase L1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 79A, autosomal dominant, with ataxia"	None
Hearing loss, autosomal dominant 85	deafness, autosomal dominant 85	USP48	USP48	https://raresource.nih.gov/literature/disease/0026718	0026718	620227		C5774302		ubiquitin specific peptidase 48	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 85"	None
Retinitis pigmentosa 96	retinitis pigmentosa 96, autosomal dominant//rp96	SAG	SAG	https://raresource.nih.gov/literature/disease/0026719	0026719	620228		C5774303		S-antigen visual arrestin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 96"	None
Short QT syndrome 7	sqt7	SLC4A3	SLC4A3	https://raresource.nih.gov/literature/disease/0026720	0026720	620231		C5774304		solute carrier family 4 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short QT syndrome 7"	None
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	cmh29	KLHL24	KLHL24	https://raresource.nih.gov/literature/disease/0026721	0026721	620236		C5774308		kelch like family member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	None
Intellectual developmental disorder, autosomal recessive 78	mrt78	WDR11	WDR11	https://raresource.nih.gov/literature/disease/0026722	0026722	620237		C5830269		WD repeat domain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 78"	None
Hearing loss, autosomal recessive 120	deafness, autosomal recessive 120	MINAR2	MINAR2	https://raresource.nih.gov/literature/disease/0026723	0026723	620238		C5774309		membrane integral NOTCH2 associated receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 120"	None
Leukodystrophy, hypomyelinating, 25	hld25	TMEM163	TMEM163	https://raresource.nih.gov/literature/disease/0026724	0026724	620243		C5830275		transmembrane protein 163	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 25"	None
Lymphatic malformation 13	hydrops fetalis, nonimmune, with cardiac defects and hemangiomas//lmphm13	THSD1	THSD1	https://raresource.nih.gov/literature/disease/0026725	0026725	620244		C5830279		thrombospondin type 1 domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 13"	None
Episodic kinesigenic dyskinesia 3	dystonia 36//ekd3	TMEM151A	TMEM151A	https://raresource.nih.gov/literature/disease/0026726	0026726	620245		C5830280		transmembrane protein 151A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Episodic kinesigenic dyskinesia 3"	1
Cardiomyopathy, dilated, 100	cardiomyopathy, dilated, 1oo	VEZF1	VEZF1	https://raresource.nih.gov/literature/disease/0026727	0026727	620247		C5830291		vascular endothelial zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 100"	None
Congenital myopathy 18	dhpr congenital myopathy//dihydropyridine receptor congenital myopathy//myopathy, congenital, due to dihydropyridine receptor defect	CACNA1S	CACNA1S	https://raresource.nih.gov/literature/disease/0026730	0026730	620246		C5830283		calcium voltage-gated channel subunit alpha1 S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 18"	2
Congenital myopathy 10b, mild variant	myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	MEGF10	MEGF10	https://raresource.nih.gov/literature/disease/0026731	0026731	620249		C3541476		multiple EGF like domains 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 10b, mild variant"	None
Congenital myopathy 2b, severe infantile, autosomal recessive	cmyo2b	ACTA1	ACTA1	https://raresource.nih.gov/literature/disease/0026732	0026732	620265		C5830300		actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 2b, severe infantile, autosomal recessive"	None
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	chondrodysplasia with hypomyelinating leukodystrophy//hld26	SLC35B2	SLC35B2	https://raresource.nih.gov/literature/disease/0026733	0026733	620269		C5830312		solute carrier family 35 member B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	None
Mitochondrial complex IV deficiency, nuclear type 23	mc4dn23	COX11	COX11	https://raresource.nih.gov/literature/disease/0026734	0026734	620275		C5830322		cytochrome c oxidase copper chaperone COX11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex IV deficiency, nuclear type 23"	None
Congenital myopathy 2c, severe infantile, autosomal dominant	cmyo2c	ACTA1	ACTA1	https://raresource.nih.gov/literature/disease/0026735	0026735	620278		C5830333		actin alpha 1, skeletal muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 2c, severe infantile, autosomal dominant"	None
Hearing loss, autosomal dominant 86	deafness, autosomal dominant 86	THOC1	THOC1	https://raresource.nih.gov/literature/disease/0026736	0026736	620280		C5830340		THO complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 86"	None
Hearing loss, autosomal dominant 87	deafness, autosomal dominant 87	PI4KB	PI4KB	https://raresource.nih.gov/literature/disease/0026737	0026737	620281		C5830342		phosphatidylinositol 4-kinase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 87"	None
Hearing loss, autosomal dominant 88	deafness, autosomal dominant 88	EPHA10	EPHA10	https://raresource.nih.gov/literature/disease/0026738	0026738	620283		C5830355		EPH receptor A10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 88"	None
Hearing loss, autosomal dominant 89	deafness, autosomal dominant 89	ATOH1	ATOH1	https://raresource.nih.gov/literature/disease/0026739	0026739	620284		C5830357		atonal bHLH transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 89"	None
Amyotrophic lateral sclerosis 27, juvenile	als27	SPTLC1	SPTLC1	https://raresource.nih.gov/literature/disease/0026740	0026740	620285		C5830359		serine palmitoyltransferase long chain base subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis 27, juvenile"	None
Myopathy, sarcoplasmic body	myoglobinopathy//myosb	MB	MB	https://raresource.nih.gov/literature/disease/0026741	0026741	620286		C5830362		myoglobin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, sarcoplasmic body"	6
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features	epilx2	GABRA3	GABRA3	https://raresource.nih.gov/literature/disease/0026742	0026742	301091		C5774178		gamma-aminobutyric acid type A receptor subunit alpha3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	None
Macular dystrophy, retinal, 4	mcdr4	CLEC3B	CLEC3B	https://raresource.nih.gov/literature/disease/0026744	0026744	619977		C5774187		C-type lectin domain family 3 member B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular dystrophy, retinal, 4"	None
Diaphragmatic hernia 4, with cardiovascular defects	dih4	ALDH1A2	ALDH1A2	https://raresource.nih.gov/literature/disease/0026745	0026745	620025		C5774210		aldehyde dehydrogenase 1 family member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diaphragmatic hernia 4, with cardiovascular defects"	None
Bent bone dysplasia syndrome 2	bbds2	LAMA5	LAMA5	https://raresource.nih.gov/literature/disease/0026746	0026746	620076		C5774233		laminin subunit alpha 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bent bone dysplasia syndrome 2"	None
Ichthyosis, annular epidermolytic, 2	aei2	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0026747	0026747	620148		C5774264		keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, annular epidermolytic, 2"	None
Atelis syndrome 1	atels1//mosaic variegated aneuploidy syndrome 5//poor growth, microcephaly, developmental delay, and anemia	SLF2	SLF2	https://raresource.nih.gov/literature/disease/0026748	0026748	620184		C5774281		SMC5-SMC6 complex localization factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atelis syndrome 1"	None
Atelis syndrome 2	atels2//mosaic variegated aneuploidy syndrome 6//poor growth, microcephaly, dysmorphic facies, and cardiac defects	SMC5	SMC5	https://raresource.nih.gov/literature/disease/0026749	0026749	620185		C5774282		structural maintenance of chromosomes 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atelis syndrome 2"	None
Lacrimoauriculodentodigital syndrome 2	fgfr3-related lacrimo-auriculo-dento-digital syndrome//ladd syndrome 2//ladd2	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0026750	0026750	620192		C5774286		fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lacrimoauriculodentodigital syndrome 2"	None
Lacrimoauriculodentodigital syndrome 3	fgf10-related lacrimo-auriculo-dento-digital syndrome//ladd syndrome 3//ladd3	FGF10	FGF10	https://raresource.nih.gov/literature/disease/0026751	0026751	620193		C5774287		fibroblast growth factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lacrimoauriculodentodigital syndrome 3"	None
Mosaic NF2-related schwannomatosis	mnf2 - mosaic neurofibromatosis type 2//mosaic neurofibromatosis type 2	NF2	NF2	https://raresource.nih.gov/literature/disease/0026765	0026765		634475	C5816778		NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic NF2-related schwannomatosis"	7
Intellectual developmental disorder, X-linked 111	xlid111	SLITRK2	SLITRK2	https://raresource.nih.gov/literature/disease/0026787	0026787	301107		C5829568		SLIT and NTRK like family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked 111"	None
Pituitary hormone deficiency, combined or isolated, 8	cphd8	ROBO1	ROBO1	https://raresource.nih.gov/literature/disease/0026788	0026788	620303		C5830375		roundabout guidance receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary hormone deficiency, combined or isolated, 8"	None
Congenital myopathy 20	cmyo20	RYR3	RYR3	https://raresource.nih.gov/literature/disease/0026789	0026789	620310		C5830393		ryanodine receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 20"	None
Premature ovarian failure 21	pof21	TP63	TP63	https://raresource.nih.gov/literature/disease/0026790	0026790	620311		C5830399		tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 21"	None
Spastic paraplegia 70, autosomal recessive	spg70	MARS1	MARS1	https://raresource.nih.gov/literature/disease/0026791	0026791			CN327016		methionyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 70, autosomal recessive"	None
Congenital myopathy 21 with early respiratory failure	cmyo21	DNAJB4	DNAJB4	https://raresource.nih.gov/literature/disease/0026792	0026792	620326		C5830424		DnaJ heat shock protein family (Hsp40) member B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 21 with early respiratory failure"	None
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	nddrsb	MED11	MED11	https://raresource.nih.gov/literature/disease/0026793	0026793	620327		C5830433		mediator complex subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	1
Cone-rod dystrophy 24	cord24	UNC119	UNC119	https://raresource.nih.gov/literature/disease/0026794	0026794	620342		C5830446		unc-119 lipid binding chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 24"	None
Congenital myopathy 22A, classic	cmyo22a	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0026795	0026795	620351		C5830453		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 22A, classic"	None
Developmental and epileptic encephalopathy, 31B	dee31b//developmental and epileptic encephalopathy 31b, autosomal recessive	DNM1	DNM1	https://raresource.nih.gov/literature/disease/0026796	0026796	620352		C5830459		dynamin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy, 31B"	None
Ciliary dyskinesia, primary, 50	cild50	DNAH7	DNAH7	https://raresource.nih.gov/literature/disease/0026797	0026797	620356		C5830473		dynein axonemal heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 50"	None
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	mc5dn4a	ATP5F1A	ATP5F1A	https://raresource.nih.gov/literature/disease/0026798	0026798	620358		C5830480		ATP synthase F1 subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"	None
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	mc5dn7	ATP5PO	ATP5PO	https://raresource.nih.gov/literature/disease/0026799	0026799	620359		C5830482		ATP synthase peripheral stalk subunit OSCP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7"	None
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	pfbmft7	NAF1	NAF1	https://raresource.nih.gov/literature/disease/0026800	0026800	620365		C5830485		nuclear assembly factor 1 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7"	None
Osteopetrosis, autosomal recessive 9	optb9//osteopetrosis, ikegawa type	SLC4A2	SLC4A2	https://raresource.nih.gov/literature/disease/0026801	0026801	620366		C5830487		solute carrier family 4 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis, autosomal recessive 9"	None
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	pfbmft8	POT1	POT1	https://raresource.nih.gov/literature/disease/0026802	0026802	620367		C5830496		protection of telomeres 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	None
Cerebroretinal microangiopathy with calcifications and cysts 3	crmcc3	POT1	POT1	https://raresource.nih.gov/literature/disease/0026803	0026803	620368		C5830497		protection of telomeres 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebroretinal microangiopathy with calcifications and cysts 3"	None
Congenital myopathy 22B, severe fetal	cmyo22b	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0026804	0026804	620369		C5830501		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 22B, severe fetal"	None
Muscular dystrophy, limb-girdle, autosomal recessive 28	myopathy, limb-girdle, adult-onset	HMGCR	HMGCR	https://raresource.nih.gov/literature/disease/0026805	0026805	620375	653725	C5830518		3-hydroxy-3-methylglutaryl-CoA reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, limb-girdle, autosomal recessive 28"	None
Autoinflammatory disease, systemic, with vasculitis	lavli syndrome//saidv	LYN	LYN	https://raresource.nih.gov/literature/disease/0026806	0026806	620376		C5830525		LYN proto-oncogene, Src family tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory disease, systemic, with vasculitis"	None
Spastic paraplegia 89, autosomal recessive	spg89	AMFR	AMFR	https://raresource.nih.gov/literature/disease/0026808	0026808	620379		C5830531		autocrine motility factor receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 89, autosomal recessive"	None
Auditory neuropathy, autosomal dominant 2	auna2	ATP11A	ATP11A	https://raresource.nih.gov/literature/disease/0026809	0026809	620384		C5830542		ATPase phospholipid transporting 11A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auditory neuropathy, autosomal dominant 2"	1
Nemaline myopathy 5B, autosomal recessive, childhood-onset	nem5b	TNNT1	TNNT1	https://raresource.nih.gov/literature/disease/0026810	0026810	620386		C5830545		troponin T1, slow skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 5B, autosomal recessive, childhood-onset"	None
Nemaline myopathy 5C, autosomal dominant	nem5c	TNNT1	TNNT1	https://raresource.nih.gov/literature/disease/0026811	0026811	620389		C5830549		troponin T1, slow skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nemaline myopathy 5C, autosomal dominant"	None
Intellectual developmental disorder, autosomal recessive 79	mrt79	TPR	TPR	https://raresource.nih.gov/literature/disease/0026812	0026812	620393		C5830553		translocated promoter region, nuclear basket protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 79"	None
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	pfbmft9	NOP10	NOP10	https://raresource.nih.gov/literature/disease/0026813	0026813	620400		C5830560		NOP10 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9"	None
Palmoplantar keratoderma, epidermolytic, 2	eppk2//greither syndrome//keratosis of greither	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0026814	0026814	620411		C2936837		keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma, epidermolytic, 2"	2
Spastic paraplegia 90A, autosomal dominant	spg90a	SPTSSA	SPTSSA	https://raresource.nih.gov/literature/disease/0026815	0026815	620416		C5830574		serine palmitoyltransferase small subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 90A, autosomal dominant"	None
Spastic paraplegia 90B, autosomal recessive	spg90b	SPTSSA	SPTSSA	https://raresource.nih.gov/literature/disease/0026816	0026816	620417		C5830578		serine palmitoyltransferase small subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 90B, autosomal recessive"	None
Retinitis pigmentosa 97	rp97	VWA8	VWA8	https://raresource.nih.gov/literature/disease/0026817	0026817	620422		C5830579		von Willebrand factor A domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 97"	None
Multiple mitochondrial dysfunctions syndrome 7	mmds7	GCSH	GCSH	https://raresource.nih.gov/literature/disease/0026818	0026818	620423		C5830586		glycine cleavage system protein H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 7"	None
Dystonia 37, early-onset, with striatal lesions	dyt37	NUP54	NUP54	https://raresource.nih.gov/literature/disease/0026819	0026819	620427		C5830592		nucleoporin 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 37, early-onset, with striatal lesions"	None
Ciliary dyskinesia, primary, 51	cild51	BRWD1	BRWD1	https://raresource.nih.gov/literature/disease/0026820	0026820	620438		C5830608		bromodomain and WD repeat domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 51"	None
Intellectual developmental disorder, autosomal dominant 72	autosomal dominant intellectual developmental disorder-72//developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome//mrd72//srrm2-related neurodevelopmental disorder	SRRM2	SRRM2	https://raresource.nih.gov/literature/disease/0026821	0026821	620439	652487	C5830612		serine/arginine repetitive matrix 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 72"	2
Autosomal recessive ataxia due to PEX16 deficiency		PEX16	PEX16	https://raresource.nih.gov/literature/disease/0026830	0026830		642954	C5816797		peroxisomal biogenesis factor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia due to PEX16 deficiency"	None
Autosomal recessive ataxia due to PEX2 deficiency		PEX2	PEX2	https://raresource.nih.gov/literature/disease/0026831	0026831		642965	C5816796		peroxisomal biogenesis factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia due to PEX2 deficiency"	None
Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome		ERF	ERF	https://raresource.nih.gov/literature/disease/0026847	0026847		647681	C5816752		ETS2 repressor factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome"	None
MYT1L-related developmental delay-intellectual disability-obesity syndrome	myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome//myt1l-related prader-willi-like syndrome	MYT1L	MYT1L	https://raresource.nih.gov/literature/disease/0026849	0026849		647799	C5816753		myelin transcription factor 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYT1L-related developmental delay-intellectual disability-obesity syndrome"	None
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked	admidx	DOCK11	DOCK11	https://raresource.nih.gov/literature/disease/0026852	0026852	301109		C5829577		dedicator of cytokinesis 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoinflammatory disease, multisystem, with immune dysregulation, X-linked"	1
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	ahus8	C1GALT1C1	C1GALT1C1	https://raresource.nih.gov/literature/disease/0026853	0026853	301110		C5829585		C1GALT1 specific chaperone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature"	None
Intellectual developmental disorder, X-linked 112	xlid112	ZMYM3	ZMYM3	https://raresource.nih.gov/literature/disease/0026854	0026854	301111		C5829589		zinc finger MYM-type containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked 112"	None
Intellectual developmental disorder, autosomal dominant 73	mrd73//taf4-related ndd//taf4-related neurodevelopmental disorder	TAF4	TAF4	https://raresource.nih.gov/literature/disease/0026856	0026856	620450		C5830636		TATA-box binding protein associated factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 73"	None
Combined oxidative phosphorylation deficiency 58	coxpd58	TEFM	TEFM	https://raresource.nih.gov/literature/disease/0026857	0026857	620451		C5830641		transcription elongation factor, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 58"	None
Amyotrophic lateral sclerosis 28	als28	LRP12	LRP12	https://raresource.nih.gov/literature/disease/0026858	0026858	620452		C5830642		LDL receptor related protein 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis 28"	None
Dystonia 22, juvenile-onset	dyt22jo	TSPOAP1	TSPOAP1	https://raresource.nih.gov/literature/disease/0026859	0026859	620453		C5830645		TSPO associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 22, juvenile-onset"	None
Congenital disorder of glycosylation, type IIaa	cdg iiaa//cdg2aa	STX5	STX5	https://raresource.nih.gov/literature/disease/0026860	0026860	620454		C5830651		syntaxin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIaa"	None
Dystonia 22, adult-onset	dyt22ao	TSPOAP1	TSPOAP1	https://raresource.nih.gov/literature/disease/0026861	0026861	620456		C5830658		TSPO associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 22, adult-onset"	None
Auriculocondylar syndrome 4	arcnd4	HDAC9	HDAC9	https://raresource.nih.gov/literature/disease/0026862	0026862	620457		C5830659		histone deacetylase 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome 4"	None
Auriculocondylar syndrome 2B	arcnd2b	PLCB4	PLCB4	https://raresource.nih.gov/literature/disease/0026863	0026863	620458		C5830664		phospholipase C beta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome 2B"	None
Cardiomyopathy, dilated, 2I	cmd2i	CAP2	CAP2	https://raresource.nih.gov/literature/disease/0026864	0026864	620462		C5830685		cyclase associated actin cytoskeleton regulatory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2I"	None
Thrombocytopenia 9	thc9//thrombocytopenia, autosomal dominant, 9	THPO	THPO	https://raresource.nih.gov/literature/disease/0026866	0026866	620478		C5882678		thrombopoietin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 9"	None
Variegate porphyria, childhood-onset	variegate porphyria, homozygous variant//vpco	PPOX	PPOX	https://raresource.nih.gov/literature/disease/0026867	0026867	620483		C5882681		protoporphyrinogen oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Variegate porphyria, childhood-onset"	None
Thrombocytopenia 10	thc10//thrombocytopenia, autosomal recessive, 10	PTPRJ	PTPRJ	https://raresource.nih.gov/literature/disease/0026868	0026868	620484		C5882682		protein tyrosine phosphatase receptor type J	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 10"	None
Bleeding disorder, platelet-type, 25	bdplt25	TPM4	TPM4	https://raresource.nih.gov/literature/disease/0026869	0026869	620486		C5882683		tropomyosin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding disorder, platelet-type, 25"	None
Ziegler-Huang syndrome	bone marrow failure syndrome 8//zhs	SLC30A7	SLC30A7	https://raresource.nih.gov/literature/disease/0026870	0026870	620501		C5882688		solute carrier family 30 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ziegler-Huang syndrome"	1
Developmental and epileptic encephalopathy 111	dee111	DEPDC5	DEPDC5	https://raresource.nih.gov/literature/disease/0026871	0026871	620504		C5882690		DEP domain containing 5, GATOR1 subcomplex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 111"	None
Ichthyosis with erythrokeratoderma	iekd	KLK11	KLK11	https://raresource.nih.gov/literature/disease/0026872	0026872	620507		C5882691		kallikrein related peptidase 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis with erythrokeratoderma"	None
Spastic paraplegia 18a, autosomal dominant		ERLIN2	ERLIN2	https://raresource.nih.gov/literature/disease/0026873	0026873	620512		C5882694		ER lipid raft associated 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 18a, autosomal dominant"	131
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	hies6	STAT6	STAT6	https://raresource.nih.gov/literature/disease/0026874	0026874	620532		C5848786		signal transducer and activator of transcription 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections"	None
Neutropenia, severe congenital, 10, autosomal recessive	scn10	SRP68	SRP68	https://raresource.nih.gov/literature/disease/0026875	0026875	620534		C5882756		signal recognition particle 68	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutropenia, severe congenital, 10, autosomal recessive"	None
Alport syndrome 3b, autosomal recessive		COL4A3	COL4A3	https://raresource.nih.gov/literature/disease/0026876	0026876	620536		C5882699		collagen type IV alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alport syndrome 3b, autosomal recessive"	None
Developmental and epileptic encephalopathy 112		KCNH5	KCNH5	https://raresource.nih.gov/literature/disease/0026877	0026877	620537		C5882700		potassium voltage-gated channel subfamily H member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 112"	None
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	spg91	SPTAN1	SPTAN1	https://raresource.nih.gov/literature/disease/0026878	0026878	620538		C5882701		spectrin alpha, non-erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia"	None
Arthrogryposis, distal, type 12	da12	ADAMTS15	ADAMTS15	https://raresource.nih.gov/literature/disease/0026879	0026879	620545		C5882704		ADAM metallopeptidase with thrombospondin type 1 motif 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 12"	None
Congenital disorder of glycosylation, type IIbb	cdg iibb//cdg2bb//cdgiibb	COG3	COG3	https://raresource.nih.gov/literature/disease/0026880	0026880	620546		C5882705		component of oligomeric golgi complex 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type IIbb"	None
Premature ovarian failure 22	pof22	KASH5	KASH5	https://raresource.nih.gov/literature/disease/0026881	0026881	620548		C5882707		KASH domain containing 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 22"	None
Optic atrophy 14	opa14	MIEF1	MIEF1	https://raresource.nih.gov/literature/disease/0026882	0026882	620550		C5882708		mitochondrial elongation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 14"	None
Hearing loss, autosomal recessive 121	deafness, autosomal recessive 121	GPR156	GPR156	https://raresource.nih.gov/literature/disease/0026883	0026883	620551		C5882709		G protein-coupled receptor 156	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 121"	None
Leukoencephalopathy with vanishing white matter 2	leukoencephalopathy with vanishing white matter 2, with or without ovarian failure//vwm2	EIF2B2	EIF2B2	https://raresource.nih.gov/literature/disease/0026884	0026884	620312		C5830404		eukaryotic translation initiation factor 2B subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with vanishing white matter 2"	None
Leukoencephalopathy with vanishing white matter 3	leukoencephalopathy with vanishing white matter 3, with or without ovarian failure//vwm3	EIF2B3	EIF2B3	https://raresource.nih.gov/literature/disease/0026885	0026885	620313		C5830405		eukaryotic translation initiation factor 2B subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with vanishing white matter 3"	None
Leukoencephalopathy with vanishing white matter 4	leukoencephalopathy with vanishing white matter 4, with or without ovarian failure//vwm4	EIF2B4	EIF2B4	https://raresource.nih.gov/literature/disease/0026886	0026886	620314		C5830406		eukaryotic translation initiation factor 2B subunit delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with vanishing white matter 4"	None
Leukoencephalopathy with vanishing white matter 5	leukoencephalopathy with vanishing white matter 5, with or without ovarian failure//vwm5	EIF2B5	EIF2B5	https://raresource.nih.gov/literature/disease/0026887	0026887	620315		C5779973		eukaryotic translation initiation factor 2B subunit epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with vanishing white matter 5"	None
Neuronopathy, distal hereditary motor, autosomal recessive 9	hmnr9//neuropathy, distal hereditary motor, autosomal recessive 9	COQ7	COQ7	https://raresource.nih.gov/literature/disease/0026888	0026888			C5882672		coenzyme Q7, hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 9"	None
Neuronopathy, distal hereditary motor, autosomal dominant 11	neuropathy, distal hereditary motor, 11	SPTAN1	SPTAN1	https://raresource.nih.gov/literature/disease/0026889	0026889	620528		C5882697		spectrin alpha, non-erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal dominant 11"	None
Neuronopathy, distal hereditary motor, autosomal recessive 10	hmnr10//neuropathy, distal hereditary motor, autosomal recessive 10//vrk1-related motor neuron disease	VRK1	VRK1	https://raresource.nih.gov/literature/disease/0026890	0026890	620542		C5882703		VRK serine/threonine kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 10"	1
Cornelia de Lange syndrome 6	cdls6	BRD4	BRD4	https://raresource.nih.gov/literature/disease/0026892	0026892	620568		C5882712		bromodomain containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornelia de Lange syndrome 6"	None
Ciliary dyskinesia, primary, 52	cild52//ciliary dyskinesia, primary, 52, with or without situs inversus	DAW1	DAW1	https://raresource.nih.gov/literature/disease/0026893	0026893	620570		C5882714		dynein assembly factor with WD repeats 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 52"	None
Otosclerosis 11	otsc11	FOXL1	FOXL1	https://raresource.nih.gov/literature/disease/0026894	0026894	620576		C5882715		forkhead box L1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otosclerosis 11"	None
Optic atrophy 15	opa15	MCAT	MCAT	https://raresource.nih.gov/literature/disease/0026895	0026895	620583		C5882716		malonyl-CoA-acyl carrier protein transacylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 15"	None
Garg-Mishra progeroid syndrome	gmpgs	TOMM7	TOMM7	https://raresource.nih.gov/literature/disease/0026896	0026896	620601		C5882717		translocase of outer mitochondrial membrane 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Garg-Mishra progeroid syndrome"	1
Lymphatic malformation 14	lmphm14	ERG	ERG	https://raresource.nih.gov/literature/disease/0026897	0026897	620602		C5882718		ETS transcription factor ERG	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 14"	None
Spastic paraplegia 72b, autosomal recessive		REEP2	REEP2	https://raresource.nih.gov/literature/disease/0026898	0026898	620606		C5882720		receptor accessory protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 72b, autosomal recessive"	None
Optic atrophy 16	opa16	MECR	MECR	https://raresource.nih.gov/literature/disease/0026899	0026899	620629		C5882723		mitochondrial trans-2-enoyl-CoA reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 16"	None
Cardiomyopathy, dilated, 2j		FLII	FLII	https://raresource.nih.gov/literature/disease/0026900	0026900	620635		C5882725		FLII actin remodeling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2j"	None
Osteogenesis imperfecta, type 23	osteogenesis imperfecta, type xxiii	PHLDB1	PHLDB1	https://raresource.nih.gov/literature/disease/0026901	0026901	620639		C5882757		pleckstrin homology like domain family B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type 23"	None
Ciliary dyskinesia, primary, 53	cild53	CLXN	CLXN	https://raresource.nih.gov/literature/disease/0026902	0026902	620642		C5882728		calaxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 53"	None
Combined oxidative phosphorylation deficiency 59	coxpd59	MRPL39	MRPL39	https://raresource.nih.gov/literature/disease/0026903	0026903	620646		C5882730		mitochondrial ribosomal protein L39	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined oxidative phosphorylation deficiency 59"	None
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6		RRM1	RRM1	https://raresource.nih.gov/literature/disease/0026904	0026904	620647		C5882731		ribonucleotide reductase catalytic subunit M1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6"	None
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	mrt80	CASP2	CASP2	https://raresource.nih.gov/literature/disease/0026905	0026905	620653		C5882733		caspase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"	None
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	thc11	RAP1B	RAP1B	https://raresource.nih.gov/literature/disease/0026906	0026906	620654		C5882734		RAP1B, member of RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies"	None
Spondyloepimetaphyseal dysplasia, Guo-Campeau type	spondyloepimetaphyseal dysplasia, guo-salian type	ERI1	ERI1	https://raresource.nih.gov/literature/disease/0026907	0026907	620663		C5882737		exoribonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Guo-Campeau type"	None
Spastic ataxia 10, autosomal recessive	spax10	COQ4	COQ4	https://raresource.nih.gov/literature/disease/0026908	0026908	620666		C5882738		coenzyme Q4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic ataxia 10, autosomal recessive"	None
Neurodegeneration with brain iron accumulation 9	nbia9	FTH1	FTH1	https://raresource.nih.gov/literature/disease/0026909	0026909	620669		C5882740		ferritin heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 9"	None
Immunodeficiency, common variable, 15	cvid15	SEC61A1	SEC61A1	https://raresource.nih.gov/literature/disease/0026910	0026910	620670		C5882741		SEC61 translocon subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency, common variable, 15"	None
Neutropenia, severe congenital, 11, autosomal dominant	scn11	SEC61A1	SEC61A1	https://raresource.nih.gov/literature/disease/0026911	0026911	620674		C5882742		SEC61 translocon subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutropenia, severe congenital, 11, autosomal dominant"	None
Leukodystrophy, hypomyelinating, 27	hld27	POLR1A	POLR1A	https://raresource.nih.gov/literature/disease/0026912	0026912	620675		C5882743		RNA polymerase I subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 27"	None
Lipodystrophy, familial partial, type 8	fpld8	ADRA2A	ADRA2A	https://raresource.nih.gov/literature/disease/0026913	0026913	620679		C5882744		adrenoceptor alpha 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipodystrophy, familial partial, type 8"	None
Lipodystrophy, congenital generalized, type 5	cgl5	PCYT1A	PCYT1A	https://raresource.nih.gov/literature/disease/0026914	0026914	620680		C5882745		phosphate cytidylyltransferase 1A, choline	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipodystrophy, congenital generalized, type 5"	None
Lipodystrophy, familial partial, type 9		PLAAT3	PLAAT3	https://raresource.nih.gov/literature/disease/0026915	0026915	620683	686999	C5882746		phospholipase A and acyltransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipodystrophy, familial partial, type 9"	None
Premature ovarian failure 23	pof23	MEIOB	MEIOB	https://raresource.nih.gov/literature/disease/0026916	0026916	620686		C5882747		meiosis specific with OB-fold	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 23"	None
Hao-Fountain syndrome due to USP7 mutation	usp7-related neurodevelopmental disorder	USP7	USP7	https://raresource.nih.gov/literature/disease/0026917	0026917		643538	C5816734		ubiquitin specific peptidase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hao-Fountain syndrome due to USP7 mutation"	None
Digenic hemochromatosis		HJV;TFR2;HAMP;HFE	HJV;TFR2;HAMP;HFE	https://raresource.nih.gov/literature/disease/0026922	0026922		648581	C5816744		hemojuvelin BMP co-receptor; transferrin receptor 2; hepcidin antimicrobial peptide; homeostatic iron regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Digenic hemochromatosis"	None
Adult-onset progressive leukoencephalopathy-early-onset deafness	adult-onset progressive leukoencephalopathy, early-onset hearing loss	KARS1	KARS1	https://raresource.nih.gov/literature/disease/0026925	0026925	619196	652532	C5921954		lysyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset progressive leukoencephalopathy-early-onset deafness"	None
Digenic Alport syndrome		COL4A5;COL4A3;COL4A4	COL4A5;COL4A3;COL4A4	https://raresource.nih.gov/literature/disease/0026932	0026932		653722	C5925113		collagen type IV alpha 5 chain; collagen type IV alpha 3 chain; collagen type IV alpha 4 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Digenic Alport syndrome"	7
Congenital insensitivity to pain syndrome, Marsili type	congenital analgesia, autosomal dominant//indifference to pain, congenital, autosomal dominant//insensitivity to pain, congenital, autosomal dominant//marsili syndrome//marsis	ZFHX2	ZFHX2	https://raresource.nih.gov/literature/disease/0026933	0026933	147430	653728	CN377193	C564128	zinc finger homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital insensitivity to pain syndrome, Marsili type"	5
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency//autosomal recessive combined immunodeficiency due to complete il6 signal transducer protein deficiency//autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency//autosomal recessive combined immunodeficiency due to gp130 deficiency//autosomal recessive hyperimmunoglobulin e syndrome due to complete il6st deficiency//stüve wiedemann syndrome type 2	IL6ST	IL6ST	https://raresource.nih.gov/literature/disease/0026935	0026935	619751	656283	C5925103		interleukin 6 cytokine family signal transducer	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency"	None
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency	autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency//autosomal recessive combined immunodeficiency due to partial gp130 deficiency//autosomal recessive combined immunodeficiency due to partial il6 signal transducer protein deficiency//autosomal recessive combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency//autosomal recessive hyperimmunoglobulin e syndrome due to partial il6 signal transducer deficiency	IL6ST	IL6ST	https://raresource.nih.gov/literature/disease/0026936	0026936		656300	C5925106		interleukin 6 cytokine family signal transducer	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency"	None
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency	autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency//autosomal dominant combined immunodeficiency due to partial gp130 deficiency//autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency//autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency//autosomal dominant hyperimmunoglobulin e syndrome due to partial il6st deficiency	IL6ST	IL6ST	https://raresource.nih.gov/literature/disease/0026937	0026937		656313	C5925105		interleukin 6 cytokine family signal transducer	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency"	None
Autosomal recessive combined immunodeficiency due to IL6R deficiency	autosomal recessive combined immunodeficiency due to il6 receptor protein deficiency//autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency//autosomal recessive hyperimmunoglobulin e syndrome due to il6r deficiency	IL6R	IL6R	https://raresource.nih.gov/literature/disease/0026938	0026938		656326	C5925112		interleukin 6 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive combined immunodeficiency due to IL6R deficiency"	None
Autosomal dominant combined immunodeficiency due to ERBIN deficiency	autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency//autosomal dominant hyperimmunoglobulin e syndrome due to erbb2ip defect//autosomal dominant hyperimmunoglobulin e syndrome due to erbin deficiency	ERBIN	ERBIN	https://raresource.nih.gov/literature/disease/0026939	0026939		656912	C5925110		erbb2 interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant combined immunodeficiency due to ERBIN deficiency"	None
COQ7-related distal hereditary motor neuropathy		COQ7	COQ7	https://raresource.nih.gov/literature/disease/0026944	0026944		658778	C5925143		coenzyme Q7, hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COQ7-related distal hereditary motor neuropathy"	None
Early-onset autoimmune disorder due to DOCK11 partial deficiency		DOCK11	DOCK11	https://raresource.nih.gov/literature/disease/0026946	0026946		658946	C5925146		dedicator of cytokinesis 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset autoimmune disorder due to DOCK11 partial deficiency"	None
Early-onset immune dysregulation due to DOCK11 complete deficiency		DOCK11	DOCK11	https://raresource.nih.gov/literature/disease/0026947	0026947		658951	C5925136		dedicator of cytokinesis 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset immune dysregulation due to DOCK11 complete deficiency"	None
Basal cell nevus syndrome 1	bcns1//multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies	PTCH1	PTCH1	https://raresource.nih.gov/literature/disease/0026952	0026952			CN376810		patched 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal cell nevus syndrome 1"	1
Craniofacial microsomia 1	cfm1	SF3B2	SF3B2	https://raresource.nih.gov/literature/disease/0026953	0026953			C3495417		splicing factor 3b subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniofacial microsomia 1"	None
Oculopharyngeal muscular dystrophy 1	opmd1	PABPN1	PABPN1	https://raresource.nih.gov/literature/disease/0026954	0026954			CN376802		poly(A) binding protein nuclear 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngeal muscular dystrophy 1"	None
Glycine encephalopathy 1	gce1	GLDC	GLDC	https://raresource.nih.gov/literature/disease/0026956	0026956			CN376801		glycine decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycine encephalopathy 1"	None
Prolonged electroretinal response suppression 1	bradyopsia 1//perrs1	RGS9	RGS9	https://raresource.nih.gov/literature/disease/0026957	0026957			C5829874		regulator of G protein signaling 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prolonged electroretinal response suppression 1"	None
Mitochondrial trifunctional protein deficiency 1	mtpd1	HADHA	HADHA	https://raresource.nih.gov/literature/disease/0026958	0026958			CN376812		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial trifunctional protein deficiency 1"	None
C1Q deficiency 1	c1qd1	C1QA	C1QA	https://raresource.nih.gov/literature/disease/0026959	0026959			CN376805		complement C1q A chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C1Q deficiency 1"	None
Leber-like hereditary optic neuropathy, autosomal recessive 1	mitochondrial complex i deficiency, nuclear type 38	DNAJC30	DNAJC30	https://raresource.nih.gov/literature/disease/0026960	0026960			CN376811		DnaJ heat shock protein family (Hsp40) member C30	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber-like hereditary optic neuropathy, autosomal recessive 1"	103
Epidermolytic hyperkeratosis 2		KRT10	KRT10	https://raresource.nih.gov/literature/disease/0026961	0026961			CN377629		keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolytic hyperkeratosis 2"	None
Mitochondrial trifunctional protein deficiency 2	mtpd2	HADHB	HADHB	https://raresource.nih.gov/literature/disease/0026962	0026962	620300		C5830374		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial trifunctional protein deficiency 2"	None
C1Q deficiency 2		C1QB	C1QB	https://raresource.nih.gov/literature/disease/0026963	0026963	620321		C5830422		complement C1q B chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C1Q deficiency 2"	None
C1Q deficiency 3		C1QC	C1QC	https://raresource.nih.gov/literature/disease/0026964	0026964	620322		C5830423		complement C1q C chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C1Q deficiency 3"	None
Basal cell nevus syndrome 2	bcns2//nevoid basal cell carcinoma syndrome 2	SUFU	SUFU	https://raresource.nih.gov/literature/disease/0026965	0026965	620343		C5830451		SUFU negative regulator of hedgehog signaling	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal cell nevus syndrome 2"	None
Prolonged electroretinal response suppression 2	bradyopsia 2//perrs2	RGS9BP	RGS9BP	https://raresource.nih.gov/literature/disease/0026966	0026966	620344		C5830452		regulator of G protein signaling 9 binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prolonged electroretinal response suppression 2"	None
Glycine encephalopathy 2	gce2	AMT	AMT	https://raresource.nih.gov/literature/disease/0026967	0026967	620398		C5830559		aminomethyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycine encephalopathy 2"	None
Craniofacial microsomia 2	cfm2	FOXI3	FOXI3	https://raresource.nih.gov/literature/disease/0026968	0026968	620444		C5781610		forkhead box I3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniofacial microsomia 2"	None
Oculopharyngeal muscular dystrophy 2	opmd2	HNRNPA2B1	HNRNPA2B1	https://raresource.nih.gov/literature/disease/0026969	0026969	620460		C5830682		heterogeneous nuclear ribonucleoprotein A2/B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngeal muscular dystrophy 2"	None
Leber-like hereditary optic neuropathy, autosomal recessive 2	leber hereditary optic neuropathy, autosomal recessive 2	NDUFS2	NDUFS2	https://raresource.nih.gov/literature/disease/0026970	0026970	620569		C5882713		NADH:ubiquinone oxidoreductase core subunit S2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber-like hereditary optic neuropathy, autosomal recessive 2"	None
Myoclonic epilepsy of Lafora 1	epilepsy, progressive myoclonic, 2a//epm2a-related lafora disease//lafora disease 1//melf1	EPM2A	EPM2A	https://raresource.nih.gov/literature/disease/0026971	0026971			C5848203		EPM2A glucan phosphatase, laforin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonic epilepsy of Lafora 1"	1
Intellectual developmental disorder, X-linked 113		CSTF2	CSTF2	https://raresource.nih.gov/literature/disease/0026972	0026972	301116		C5882666		cleavage stimulation factor subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked 113"	None
Moyamoya disease 7	mymy7	ANO1	ANO1	https://raresource.nih.gov/literature/disease/0026974	0026974	620687		C5882748		anoctamin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moyamoya disease 7"	None
Intellectual developmental disorder, autosomal recessive 81	mrt81	ASCC3	ASCC3	https://raresource.nih.gov/literature/disease/0026975	0026975	620700		C5882758		activating signal cointegrator 1 complex subunit 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 81"	None
Leukoencephalopathy, porphyria-related	lencep	HMBS	HMBS	https://raresource.nih.gov/literature/disease/0026976	0026976	620711		C5935575		hydroxymethylbilane synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy, porphyria-related"	None
Hearing loss, autosomal recessive 122	deafness, autosomal recessive 122	TMTC4	TMTC4	https://raresource.nih.gov/literature/disease/0026977	0026977	620714		C5935576		transmembrane O-mannosyltransferase targeting cadherins 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 122"	None
Orofaciodigital syndrome 20	orofaciodigital syndrome xx	RAB34	RAB34	https://raresource.nih.gov/literature/disease/0026978	0026978	620718		C5935578		RAB34, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome 20"	None
Hearing loss, autosomal dominant 90	deafness, autosomal dominant 90	MYO3A	MYO3A	https://raresource.nih.gov/literature/disease/0026979	0026979	620722		C5935579		myosin IIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal dominant 90"	None
Bethlem myopathy 1B	bthlm1b	COL6A2	COL6A2	https://raresource.nih.gov/literature/disease/0026980	0026980	620725		C5935580		collagen type VI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bethlem myopathy 1B"	None
Bethlem myopathy 1C	bthlm1c	COL6A3	COL6A3	https://raresource.nih.gov/literature/disease/0026981	0026981	620726		C5935581		collagen type VI alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bethlem myopathy 1C"	None
Ullrich congenital muscular dystrophy 1B	ucmd1b	COL6A2	COL6A2	https://raresource.nih.gov/literature/disease/0026982	0026982	620727		C5935582		collagen type VI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ullrich congenital muscular dystrophy 1B"	None
Ullrich congenital muscular dystrophy 1C	ucmd1c	COL6A3	COL6A3	https://raresource.nih.gov/literature/disease/0026983	0026983	620728		C5935583		collagen type VI alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ullrich congenital muscular dystrophy 1C"	None
Microphthalmia/coloboma 11	mcopcb11	FZD5	FZD5	https://raresource.nih.gov/literature/disease/0026984	0026984	620731		C5935584		frizzled class receptor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia/coloboma 11"	None
Cardiomyopathy, familial hypertrophic, 30, atrial	cmh30	CORIN	CORIN	https://raresource.nih.gov/literature/disease/0026985	0026985	620734		C5935586		corin, serine peptidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, familial hypertrophic, 30, atrial"	None
Isolated primary pigmented nodular adrenocortical disease	i-ppnad - isolated primary pigmented nodular adrenocortical disease//isolated ppnad (primary pigmented nodular adrenocortical disease)	PRKAR1A;PDE11A	PRKAR1A;PDE11A	https://raresource.nih.gov/literature/disease/0026991	0026991		647772	C5816750		protein kinase cAMP-dependent type I regulatory subunit alpha; phosphodiesterase 11A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated primary pigmented nodular adrenocortical disease"	1
Isolated micronodular adrenocortical disease		PDE8B;PDE11A	PDE8B;PDE11A	https://raresource.nih.gov/literature/disease/0026992	0026992		647782	C5816756		phosphodiesterase 8B; phosphodiesterase 11A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated micronodular adrenocortical disease"	8
Hearing loss, autosomal recessive 123	deafness, autosomal recessive 123	STX4	STX4	https://raresource.nih.gov/literature/disease/0027003	0027003	620745		C5935588		syntaxin 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 123"	None
Generalized epilepsy with febrile seizures plus, type 12	gefs+, type 12	SLC32A1	SLC32A1	https://raresource.nih.gov/literature/disease/0027006	0027006	620755		C5935592		solute carrier family 32 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized epilepsy with febrile seizures plus, type 12"	None
Thrombocytopenia 12 with or without myopathy	thc12	GNE	GNE	https://raresource.nih.gov/literature/disease/0027007	0027007	620757		C5935593		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 12 with or without myopathy"	None
Macular dystrophy with or without cone dysfunction	mdcd	SAMD7	SAMD7	https://raresource.nih.gov/literature/disease/0027008	0027008	620762		C5935594		sterile alpha motif domain containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular dystrophy with or without cone dysfunction"	8
Seckel syndrome 11		CEP295	CEP295	https://raresource.nih.gov/literature/disease/0027009	0027009	620767		C5935595		centrosomal protein 295	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome 11"	None
Developmental and epileptic encephalopathy 113		SV2A	SV2A	https://raresource.nih.gov/literature/disease/0027010	0027010	620772		C5935597		synaptic vesicle glycoprotein 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 113"	234
Developmental and epileptic encephalopathy 114		SLC32A1	SLC32A1	https://raresource.nih.gov/literature/disease/0027011	0027011	620774		C5935598		solute carrier family 32 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 114"	None
Neuromuscular disorder, congenital, with dysmorphic facies		FILIP1	FILIP1	https://raresource.nih.gov/literature/disease/0027012	0027012	620775		C5935643		filamin A interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuromuscular disorder, congenital, with dysmorphic facies"	None
Thrombocytopenia 13, syndromic	thrombocytopenia, autosomal recessive, 13	GALE	GALE	https://raresource.nih.gov/literature/disease/0027013	0027013	620776		C5935599		UDP-galactose-4-epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 13, syndromic"	None
Pulmonary hypertension, primary, 6	pph6	CAPNS1	CAPNS1	https://raresource.nih.gov/literature/disease/0027014	0027014	620777		C5935600		calpain small subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary hypertension, primary, 6"	None
Cutis laxa, autosomal recessive, type 1d		EFEMP1	EFEMP1	https://raresource.nih.gov/literature/disease/0027015	0027015	620780		C5935602		EGF containing fibulin extracellular matrix protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis laxa, autosomal recessive, type 1d"	None
Intermediate collagen VI-related muscular dystrophy	intermediate col6-rd	COL6A2;COL6A3;COL6A1	COL6A2;COL6A3;COL6A1	https://raresource.nih.gov/literature/disease/0027027	0027027		646113	C5816698		collagen type VI alpha 2 chain; collagen type VI alpha 3 chain; collagen type VI alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate collagen VI-related muscular dystrophy"	None
Genetic central precocious puberty in female		DLK1;KISS1R;MKRN3	DLK1;KISS1R;MKRN3	https://raresource.nih.gov/literature/disease/0027028	0027028		650077	C5816765		delta like non-canonical Notch ligand 1; KISS1 receptor; makorin ring finger protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Genetic central precocious puberty in female"	None
Intellectual developmental disorder, autosomal recessive 82		NSUN6	NSUN6	https://raresource.nih.gov/literature/disease/0027032	0027032	620779		C5935601		NOP2/Sun RNA methyltransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 82"	456
Developmental and epileptic encephalopathy 115		SNF8	SNF8	https://raresource.nih.gov/literature/disease/0027033	0027033	620783		C5935604		SNF8 subunit of ESCRT-II	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 115"	None
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	agammaglobulinemia due to top2b mutation//b-cell immunodeficiency, limb anomaly, urogenital malformation syndrome//b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome//bilu (b-cell immunodeficiency, limb, urogenital) syndrome//bilu syndrome//hoffman syndrome//hoffman syndrome due to top2b deficiency	TOP2B	TOP2B	https://raresource.nih.gov/literature/disease/0027054	0027054	609296	567502	C1836437	C563745	DNA topoisomerase II beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	9
Cerebellar atrophy, visual impairment, and psychomotor retardation;		EMC1	EMC1	https://raresource.nih.gov/literature/disease/0027055	0027055			C4225172		ER membrane protein complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar atrophy, visual impairment, and psychomotor retardation;"	None
Sudden cardiac failure, infantile	infantile sudden cardiac failure//ppa2-associated sudden cardiac death//scfi//sudden cardiac failure, infantile; scfi	PPA2	PPA2	https://raresource.nih.gov/literature/disease/0027056	0027056	617222		C4310664		inorganic pyrophosphatase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sudden cardiac failure, infantile"	3
Liang-Wang syndrome		KCNMA1	KCNMA1	https://raresource.nih.gov/literature/disease/0027058	0027058	618729	664438	C5231479		potassium calcium-activated channel subfamily M alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liang-Wang syndrome"	4
Stankiewicz-Isidor syndrome	stiss	PSMD12	PSMD12	https://raresource.nih.gov/literature/disease/0027062	0027062	617516		C4479599		proteasome 26S subunit, non-ATPase 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stankiewicz-Isidor syndrome"	3
CACNA1A-related complex neurodevelopmental disorder		CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0027064	0027064			CN323281		calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CACNA1A-related complex neurodevelopmental disorder"	None
AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss	spata5l1-related complex neurodevelopmental disorder with motor features and hearing loss	AFG2B	AFG2B	https://raresource.nih.gov/literature/disease/0027068	0027068			CN377536		AFG2 AAA ATPase homolog B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss"	94
MTOR-related overgrowth spectrum		MTOR	MTOR	https://raresource.nih.gov/literature/disease/0027069	0027069			CN378133		mechanistic target of rapamycin kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MTOR-related overgrowth spectrum"	None
TUBB2A-related tubulinopathy		TUBB2A	TUBB2A	https://raresource.nih.gov/literature/disease/0027070	0027070			CN322834		tubulin beta 2A class IIa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TUBB2A-related tubulinopathy"	1
DEAF1-associated neurodevelopmental disorder		DEAF1	DEAF1	https://raresource.nih.gov/literature/disease/0027072	0027072			CN372095		DEAF1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DEAF1-associated neurodevelopmental disorder"	3
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability		NACC1	NACC1	https://raresource.nih.gov/literature/disease/0027073	0027073			CN375933		nucleus accumbens associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"	None
Radio-Tartaglia syndrome	spen-related neurodevelopmental disorder	SPEN	SPEN	https://raresource.nih.gov/literature/disease/0027075	0027075	619312	662234	C5543339		spen family transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radio-Tartaglia syndrome"	4
Rauch-Steindl syndrome	raust	NSD2	NSD2	https://raresource.nih.gov/literature/disease/0027076	0027076	619695	659642	C5562061		nuclear receptor binding SET domain protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rauch-Steindl syndrome"	6
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	nedcds	HNRNPH1	HNRNPH1	https://raresource.nih.gov/literature/disease/0027077	0027077	620083	662207	C5774235		heterogeneous nuclear ribonucleoprotein H1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"	81
Basal ganglia calcification, idiopathic, 9, autosomal recessive		NAA60	NAA60	https://raresource.nih.gov/literature/disease/0027078	0027078	620786		C5935607		N-alpha-acetyltransferase 60, NatF catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 9, autosomal recessive"	None
Otosclerosis 12		SMARCA4	SMARCA4	https://raresource.nih.gov/literature/disease/0027079	0027079	620792		C5935610		SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otosclerosis 12"	None
Autosomal recessive nonsyndromic hearing loss 124	deafness, autosomal recessive 124	PKHD1L1	PKHD1L1	https://raresource.nih.gov/literature/disease/0027080	0027080	620794		C5935612		PKHD1 like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive nonsyndromic hearing loss 124"	None
Proteasome-associated autoinflammatory syndrome 6		PSMB9	PSMB9	https://raresource.nih.gov/literature/disease/0027081	0027081	620796		C5935614		proteasome 20S subunit beta 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 6"	None
Genetic central precocious puberty in male		MKRN3;KISS1R;KISS1;DLK1	MKRN3;KISS1R;KISS1;DLK1	https://raresource.nih.gov/literature/disease/0027086	0027086		650097	C5816761		makorin ring finger protein 3; KISS1 receptor; KiSS-1 metastasis suppressor; delta like non-canonical Notch ligand 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Genetic central precocious puberty in male"	985
Developmental and epileptic encephalopathy 116		GLUL	GLUL	https://raresource.nih.gov/literature/disease/0027088	0027088	620806		C5935615		glutamate-ammonia ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 116"	None
Premature ovarian failure 24		SYCP2L	SYCP2L	https://raresource.nih.gov/literature/disease/0027097	0027097	620840		C5935624		synaptonemal complex protein 2 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 24"	None
Amyloidosis, hereditary systemic 1	amyld1//amyloid cardiomyopathy//amyloid cardiomyopathy, transthyretin-related//familial amyloid polyneuropathy type 1(portuguese-swedish-japanese type)//familial amyloid polyneuropathy type ii (indiana/swiss or maryland/german type)//hattr - hereditary transthyretin related amyloidosis//hereditary oculoleptomeningeal amyloid angiopathy//hereditary transthyretin related amyloidosis//isolated cardiac amyloidosis//transthyretin amyloidosis	TTR	TTR	https://raresource.nih.gov/literature/disease/0027098	0027098			C2751492		transthyretin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis, hereditary systemic 1"	1109
MHC class II deficiency 1	mhc2d1	CIITA	CIITA	https://raresource.nih.gov/literature/disease/0027099	0027099			CN377826		class II major histocompatibility complex transactivator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class II deficiency 1"	None
MHC class I deficiency 1	hla class i deficiency, 1//mhc1d1	TAP1	TAP1	https://raresource.nih.gov/literature/disease/0027100	0027100			CN377827		transporter 1, ATP binding cassette subfamily B member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class I deficiency 1"	None
Familial amyloid polyneuropathy, Iowa type	amyld3//amyloidosis, hereditary systemic 3//amyloidosis, iowa type//amyloidosis, type iii//amyloidosis, type iv//amyloidosis, van allen type//familial amyloid polyneuropathy type iii//iowa type amyloid polyneuropathy//iowa type amyloidosis//van allen type amyloid polyneuropathy//van allen type amyloidosis	APOA1	APOA1	https://raresource.nih.gov/literature/disease/0027101	0027101	620657		C4551500		apolipoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial amyloid polyneuropathy, Iowa type"	None
Amyloidosis, hereditary systemic 5		LYZ	LYZ	https://raresource.nih.gov/literature/disease/0027102	0027102	620658		C5935572		lysozyme	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis, hereditary systemic 5"	None
Amyloidosis, hereditary systemic 6		B2M	B2M	https://raresource.nih.gov/literature/disease/0027103	0027103	620659		C5935573		beta-2-microglobulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyloidosis, hereditary systemic 6"	None
MHC class I deficiency 2		TAP2	TAP2	https://raresource.nih.gov/literature/disease/0027104	0027104	620813		C5935617		transporter 2, ATP binding cassette subfamily B member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class I deficiency 2"	None
MHC class I deficiency 3		TAPBP	TAPBP	https://raresource.nih.gov/literature/disease/0027105	0027105	620814		C5935618		TAP binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class I deficiency 3"	None
MHC class II deficiency 2	bare lymphocyte syndrome, type ii, complementation group b	RFXANK	RFXANK	https://raresource.nih.gov/literature/disease/0027106	0027106	620815		C1859535		regulatory factor X associated ankyrin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class II deficiency 2"	None
MHC class II deficiency 3	bare lymphocyte syndrome, type ii, complementation group c	RFX5	RFX5	https://raresource.nih.gov/literature/disease/0027107	0027107	620816		C1859536		regulatory factor X5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class II deficiency 3"	26
MHC class II deficiency 4	bare lymphocyte syndrome, type ii, complementation group d	RFXAP	RFXAP	https://raresource.nih.gov/literature/disease/0027108	0027108	620817		C1859537		regulatory factor X associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class II deficiency 4"	None
MHC class II deficiency 5	bare lymphocyte syndrome type 2, complementation group e//bare lymphocyte syndrome, type ii, complementation group e	RFX5	RFX5	https://raresource.nih.gov/literature/disease/0027109	0027109	620818		C1859538		regulatory factor X5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MHC class II deficiency 5"	None
Ehlers-Danlos syndrome, classic-like, 3		THBS2	THBS2	https://raresource.nih.gov/literature/disease/0027110	0027110	620865		C5935631		thrombospondin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ehlers-Danlos syndrome, classic-like, 3"	None
Dyneinopathy		DYNC1H1	DYNC1H1	https://raresource.nih.gov/literature/disease/0027115	0027115			CN378146		dynein cytoplasmic 1 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyneinopathy"	1
Congenital muscular dystrophy without intellectual disability	cmd without intellectual disability//cmd-no mr//congenital muscular dystrophy-dystroglycanopathy without intellectual disability	POMT1;FKRP;FKTN;CRPPA	POMT1;FKRP;FKTN;CRPPA	https://raresource.nih.gov/literature/disease/0027117	0027117		370980	C5190847		protein O-mannosyltransferase 1; fukutin related protein; fukutin; CDP-L-ribitol pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy without intellectual disability"	None
Megaloblastic anemia, folate-responsive	folate level in erythrocytes//folate-responsive megaloblastic anaemia//folate-responsive megaloblastic anemia//megaf	SLC19A1	SLC19A1	https://raresource.nih.gov/literature/disease/0027127	0027127	601775		C2749656		solute carrier family 19 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megaloblastic anemia, folate-responsive"	None
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; srmmd//short stature-micrognathia syndrome//srmmd//ssmg	ARCN1	ARCN1	https://raresource.nih.gov/literature/disease/0027128	0027128	617164	659702	C4310686		archain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"	None
Immunodeficiency 98 with autoinflammation, X-linked	imd98//inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by tlr8//x-linked immunodeficiency with autoinflammation	TLR8	TLR8	https://raresource.nih.gov/literature/disease/0027130	0027130	301078	675628	C5676883		toll like receptor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 98 with autoinflammation, X-linked"	641
Gastrointestinal defects and immunodeficiency syndrome 2	gidid2//multiple intestinal atresia with or without leukopenia	PI4KA	PI4KA	https://raresource.nih.gov/literature/disease/0027133	0027133	619708		C5676901		phosphatidylinositol 4-kinase alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gastrointestinal defects and immunodeficiency syndrome 2"	61
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	nedbaf	RAC3	RAC3	https://raresource.nih.gov/literature/disease/0027135	0027135	618577	659609	C5231416		Rac family small GTPase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	2
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		SMPD4	SMPD4	https://raresource.nih.gov/literature/disease/0027136	0027136	618622	664923	C5231431		sphingomyelin phosphodiesterase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	None
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type		RPL13	RPL13	https://raresource.nih.gov/literature/disease/0027137	0027137			C5231478		ribosomal protein L13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	1
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant		FOXN1	FOXN1	https://raresource.nih.gov/literature/disease/0027138	0027138	618806	676039	C5394133		forkhead box N1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	None
Neurodevelopmental disorder with microcephaly and dysmorphic facies	nabais sa-de vries syndrome, type 1	SPOP	SPOP	https://raresource.nih.gov/literature/disease/0027139	0027139	618828	662179	C5394218		speckle type BTB/POZ protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with microcephaly and dysmorphic facies"	None
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	nabais sa-de vries syndrome, type 2	SPOP	SPOP	https://raresource.nih.gov/literature/disease/0027140	0027140	618829	662175	C5394221		speckle type BTB/POZ protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies"	None
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	bcl11b-related bafopathy//intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities	BCL11B	BCL11B	https://raresource.nih.gov/literature/disease/0027142	0027142	618092	662829	C4748152		BCL11 transcription factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"	None
Familial prostate cancer	familial malignant neoplasm of prostate//hereditary prostate cancer//prostate cancer, hereditary	ZFHX3;KLF6;BRCA2;MAD1L1;CHEK2;PTEN;MXI1	ZFHX3;KLF6;BRCA2;MAD1L1;CHEK2;PTEN;MXI1	https://raresource.nih.gov/literature/disease/0027144	0027144	176807	1331	C2931456	C537243	zinc finger homeobox 3; KLF transcription factor 6; BRCA2 DNA repair associated; mitotic arrest deficient 1 like 1; checkpoint kinase 2; phosphatase and tensin homolog; MAX interactor 1, dimerization protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial prostate cancer"	423
MYH10-related neurodevelopmental disorder with congenital anomalies		MYH10	MYH10	https://raresource.nih.gov/literature/disease/0027145	0027145			CN378591		myosin heavy chain 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYH10-related neurodevelopmental disorder with congenital anomalies"	33
Neurodevelopmental disorder with hearing loss and spasticity		AFG2B	AFG2B	https://raresource.nih.gov/literature/disease/0027147	0027147	619616	659975	C5562024		AFG2 AAA ATPase homolog B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hearing loss and spasticity"	None
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	idldp	NR4A2	NR4A2	https://raresource.nih.gov/literature/disease/0027148	0027148		660017	C5677001		nuclear receptor subfamily 4 group A member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism"	1
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	neddfsb	HNRNPR	HNRNPR	https://raresource.nih.gov/literature/disease/0027149	0027149	620073	662189	C5774231		heterogeneous nuclear ribonucleoprotein R	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"	None
Developmental delay, language impairment, and ocular abnormalities	devlo	ARPC4	ARPC4	https://raresource.nih.gov/literature/disease/0027150	0027150	620141	662762	C5774262		actin related protein 2/3 complex subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay, language impairment, and ocular abnormalities"	None
Immunodeficiency 114, folate-responsive	imd114	SLC19A1	SLC19A1	https://raresource.nih.gov/literature/disease/0027152	0027152	620603		C5882719		solute carrier family 19 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 114, folate-responsive"	848
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	nedhba	SLC4A10	SLC4A10	https://raresource.nih.gov/literature/disease/0027153	0027153	620746	664430	C5935589		solute carrier family 4 member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	None
Neuroocular syndrome 1	multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome//noc1	PRR12	PRR12	https://raresource.nih.gov/literature/disease/0027154	0027154	619539	659904	C5925133		proline rich 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuroocular syndrome 1"	None
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation		NR4A2	NR4A2	https://raresource.nih.gov/literature/disease/0027164	0027164		660012	C5925124		nuclear receptor subfamily 4 group A member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation"	None
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome		AMOTL1	AMOTL1	https://raresource.nih.gov/literature/disease/0027166	0027166		660021	C5925125		angiomotin like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome"	None
Phelan-McDermid syndrome due to SHANK3 mutation		SHANK3	SHANK3	https://raresource.nih.gov/literature/disease/0027169	0027169		662172	C5925128		SH3 and multiple ankyrin repeat domains 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phelan-McDermid syndrome due to SHANK3 mutation"	None
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation		TAB2	TAB2	https://raresource.nih.gov/literature/disease/0027175	0027175		664401	C5925073		TGF-beta activated kinase 1 (MAP3K7) binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation"	None
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome		RBSN	RBSN	https://raresource.nih.gov/literature/disease/0027196	0027196	620939	675775	C5925096		rabenosyn, RAB effector	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome"	None
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN		RBSN	RBSN	https://raresource.nih.gov/literature/disease/0027197	0027197	620937	675782	C5925097		rabenosyn, RAB effector	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN"	None
Spastic paraplegia 30b, autosomal recessive		KIF1A	KIF1A	https://raresource.nih.gov/literature/disease/0027203	0027203	620607		C5935571		kinesin family member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 30b, autosomal recessive"	None
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	neuropathy, distal hereditary motor, autosomal recessive 11, with spasticity	RTN2	RTN2	https://raresource.nih.gov/literature/disease/0027204	0027204	620854		C5935630		reticulon 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity"	None
Hearing loss, autosomal recessive 125	deafness, autosomal recessive 125	GAS2	GAS2	https://raresource.nih.gov/literature/disease/0027205	0027205	620877		C5935633		growth arrest specific 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hearing loss, autosomal recessive 125"	None
Muscular dystrophy, limb-girdle, autosomal recessive 29		SNUPN	SNUPN	https://raresource.nih.gov/literature/disease/0027207	0027207	620793		C5935611		snurportin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscular dystrophy, limb-girdle, autosomal recessive 29"	None
Multiple mitochondrial dysfunctions syndrome 9b		FDXR	FDXR	https://raresource.nih.gov/literature/disease/0027208	0027208	620887		C5935635		ferredoxin reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 9b"	None
Cardiomyopathy, dilated, 2K		MYZAP	MYZAP	https://raresource.nih.gov/literature/disease/0027209	0027209	620894		C5935636		myocardial zonula adherens protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 2K"	None
Ovarian dysgenesis 11		HROB	HROB	https://raresource.nih.gov/literature/disease/0027210	0027210	620897		C5935637		homologous recombination factor with OB-fold	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ovarian dysgenesis 11"	None
Polycystic kidney disease 8		NEK8	NEK8	https://raresource.nih.gov/literature/disease/0027211	0027211	620903		C5935640		NIMA related kinase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 8"	None
Spastic paraplegia 92, autosomal recessive		FICD	FICD	https://raresource.nih.gov/literature/disease/0027212	0027212	620911		C5975346		FIC domain protein adenylyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 92, autosomal recessive"	None
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation		MEF2C	MEF2C	https://raresource.nih.gov/literature/disease/0027213	0027213		664416	C5925059		myocyte enhancer factor 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation"	None
Anastomosing haemangioma	anastomosing hemangioma	GNA11;GNA14;GNAQ	GNA11;GNA14;GNAQ	https://raresource.nih.gov/literature/disease/0027219	0027219		675359	C4329301		G protein subunit alpha 11; G protein subunit alpha 14; G protein subunit alpha q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anastomosing haemangioma"	91
Mosaic SMO syndrome		SMO	SMO	https://raresource.nih.gov/literature/disease/0027231	0027231			CN378509		smoothened, frizzled class receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic SMO syndrome"	None
Congenital myasthenic syndrome 4		CHRNE	CHRNE	https://raresource.nih.gov/literature/disease/0027234	0027234			CN378141		cholinergic receptor nicotinic epsilon subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myasthenic syndrome 4"	None
PDE6C-related retinopathy		PDE6C	PDE6C	https://raresource.nih.gov/literature/disease/0027235	0027235			CN378620		phosphodiesterase 6C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PDE6C-related retinopathy"	230
Sharpin-related autoinflammatory syndrome	sharpenia	SHARPIN	SHARPIN	https://raresource.nih.gov/literature/disease/0027236	0027236			CN378144		SHANK associated RH domain interactor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sharpin-related autoinflammatory syndrome"	None
PDE6G-related retinopathy		PDE6G	PDE6G	https://raresource.nih.gov/literature/disease/0027237	0027237			CN378621		phosphodiesterase 6G	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PDE6G-related retinopathy"	None
LRIT3-related retinopathy		LRIT3	LRIT3	https://raresource.nih.gov/literature/disease/0027238	0027238			CN378622		leucine rich repeat, Ig-like and transmembrane domains 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LRIT3-related retinopathy"	72
IMPG1-related dominant retinopathy		IMPG1	IMPG1	https://raresource.nih.gov/literature/disease/0027239	0027239			CN378623		interphotoreceptor matrix proteoglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMPG1-related dominant retinopathy"	None
IMPG1-related recessive retinopathy		IMPG1	IMPG1	https://raresource.nih.gov/literature/disease/0027240	0027240			CN378624		interphotoreceptor matrix proteoglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMPG1-related recessive retinopathy"	None
TTLL5-related retinopathy		TTLL5	TTLL5	https://raresource.nih.gov/literature/disease/0027241	0027241			CN378625		tubulin tyrosine ligase like 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TTLL5-related retinopathy"	3752
HGSNAT-related retinopathy		HGSNAT	HGSNAT	https://raresource.nih.gov/literature/disease/0027242	0027242			CN378626		heparan-alpha-glucosaminide N-acetyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HGSNAT-related retinopathy"	None
FZD4-related exudative vitreoretinopathy		FZD4	FZD4	https://raresource.nih.gov/literature/disease/0027243	0027243			CN378627		frizzled class receptor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FZD4-related exudative vitreoretinopathy"	None
BBS7-related ciliopathy		BBS7	BBS7	https://raresource.nih.gov/literature/disease/0027244	0027244			CN378628		Bardet-Biedl syndrome 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS7-related ciliopathy"	None
BBS1-related ciliopathy		BBS1	BBS1	https://raresource.nih.gov/literature/disease/0027245	0027245			CN378629		Bardet-Biedl syndrome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS1-related ciliopathy"	51
BBS12-related ciliopathy		BBS12	BBS12	https://raresource.nih.gov/literature/disease/0027247	0027247			CN378631		Bardet-Biedl syndrome 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS12-related ciliopathy"	224
LZTFL1-related ciliopathy		LZTFL1	LZTFL1	https://raresource.nih.gov/literature/disease/0027248	0027248			CN378632		leucine zipper transcription factor like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=LZTFL1-related ciliopathy"	None
BBS5-related ciliopathy		BBS5	BBS5	https://raresource.nih.gov/literature/disease/0027249	0027249			CN378633		Bardet-Biedl syndrome 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS5-related ciliopathy"	80
BBS2-related ciliopathy		BBS2	BBS2	https://raresource.nih.gov/literature/disease/0027250	0027250			CN378634		Bardet-Biedl syndrome 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BBS2-related ciliopathy"	None
TTC8-related ciliopathy		TTC8	TTC8	https://raresource.nih.gov/literature/disease/0027251	0027251			CN378635		tetratricopeptide repeat domain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TTC8-related ciliopathy"	None
MKKS-related ciliopathy		MKKS	MKKS	https://raresource.nih.gov/literature/disease/0027252	0027252			CN378636		MKKS centrosomal shuttling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MKKS-related ciliopathy"	None
IMPDH1-related retinopathy		IMPDH1	IMPDH1	https://raresource.nih.gov/literature/disease/0027253	0027253			CN378637		inosine monophosphate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMPDH1-related retinopathy"	None
DHDDS-CDG		DHDDS	DHDDS	https://raresource.nih.gov/literature/disease/0027256	0027256			CN378640		dehydrodolichyl diphosphate synthase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DHDDS-CDG"	2
PRPH2-related retinopathy		PRPH2	PRPH2	https://raresource.nih.gov/literature/disease/0027257	0027257			CN378641		peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PRPH2-related retinopathy"	3
PROM1-related retinopathy		PROM1	PROM1	https://raresource.nih.gov/literature/disease/0027258	0027258			CN378642		prominin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PROM1-related retinopathy"	1
Hyperzincemia and hypercalprotectinemia	aiczc//hyperzincemia with functional zinc depletion//hzhc syndrome//recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome//recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	PSTPIP1	PSTPIP1	https://raresource.nih.gov/literature/disease/0027262	0027262	601979	251523	C4760957	C566595	proline-serine-threonine phosphatase interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperzincemia and hypercalprotectinemia"	2
Arrhinia with choanal atresia and microphthalmia syndrome	arhinia choanal atresia microphthalmia//arhinia, choanal atresia and microphthalmia//arhinia, choanal atresia, and microphthalmia//arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism//arrhinia-choanal atresia-microphthalmia syndrome//bams//bams - bosma arhinia microphthalmia syndrome//bosma arhinia microphthalmia syndrome//bosma arhinia-microphthalmia syndrome//bosma henkin christiansen syndrome//bosma syndrome//bosma-henkin-christiansen syndrome//gifford bosma syndrome//hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome//ruprecht majewski syndrome	SMCHD1	SMCHD1	https://raresource.nih.gov/literature/disease/0027263	0027263	603457	2250	C1863878	C537429	structural maintenance of chromosomes flexible hinge domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arrhinia with choanal atresia and microphthalmia syndrome"	32
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	nadgp//neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; nadgp	SQSTM1	SQSTM1	https://raresource.nih.gov/literature/disease/0027264	0027264	617145		C4310693		sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	1
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	conatoc	SLC44A1	SLC44A1	https://raresource.nih.gov/literature/disease/0027266	0027266	618868		C5394335		solute carrier family 44 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline"	None
Hereditary glaucoma, primary closed-angle	glaucoma, primary closed-angle//glcc//hereditary primary angle-closure glaucoma	COL18A1	COL18A1	https://raresource.nih.gov/literature/disease/0027267	0027267	618880		C5394374		collagen type XVIII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary glaucoma, primary closed-angle"	1
Leukoencephalopathy, hereditary diffuse, with spheroids 2	hdls2//leukoencephalopathy, hereditary diffuse, with spheroids, swedish iia//leukoencephalopathy, hereditary diffuse, with spheroids, swedish type	AARS1	AARS1	https://raresource.nih.gov/literature/disease/0027268	0027268	619661		C5562044		alanyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy, hereditary diffuse, with spheroids 2"	None
Neurodegeneration with ataxia and late-onset optic atrophy	ndaxoa	SDHA	SDHA	https://raresource.nih.gov/literature/disease/0027269	0027269	619259		C5543254		succinate dehydrogenase complex flavoprotein subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with ataxia and late-onset optic atrophy"	None
Neurodegeneration, childhood-onset, with cerebellar atrophy	condca	AGTPBP1	AGTPBP1	https://raresource.nih.gov/literature/disease/0027270	0027270	618276		C4748934		ATP/GTP binding carboxypeptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, with cerebellar atrophy"	7
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	ndcama	IREB2	IREB2	https://raresource.nih.gov/literature/disease/0027271	0027271	618451		C5193104		iron responsive element binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia"	1
Neurodegeneration, infantile-onset, biotin-responsive	nerib//smvt deficiency//sodium-dependent multivitamin transporter deficiency	SLC5A6	SLC5A6	https://raresource.nih.gov/literature/disease/0027272	0027272	618973		C5436520		solute carrier family 5 member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, infantile-onset, biotin-responsive"	8
KCNH1 associated disorder	kcnh1 related disorder	KCNH1	KCNH1	https://raresource.nih.gov/literature/disease/0027274	0027274			CN311519		potassium voltage-gated channel subfamily H member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KCNH1 associated disorder"	None
RNU4ATAC spectrum disorder	rnu4atac-opathy//rnu4atac-related disorder	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0027275	0027275			CN377746		RNA, U4atac small nuclear	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RNU4ATAC spectrum disorder"	2
Jeune syndrome - GRK2-related	asphyxiating thoracic dystrophy - grk2-related//grk2-related jeune syndrome//short rib polydactyly - grk2 related//short rib thoracic dystrophy - grk2 related	GRK2	GRK2	https://raresource.nih.gov/literature/disease/0027278	0027278			CN379142		G protein-coupled receptor kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jeune syndrome - GRK2-related"	None
SNUPN-related muscular dystrophy with or without multi-system involvement		SNUPN	SNUPN	https://raresource.nih.gov/literature/disease/0027279	0027279			CN379143		snurportin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SNUPN-related muscular dystrophy with or without multi-system involvement"	None
B3GALT6-congenital disorder of glycosylation	b3galt6-cdg//b3galt6-related congenital disorder of glycosylation	B3GALT6	B3GALT6	https://raresource.nih.gov/literature/disease/0027280	0027280			CN379144		beta-1,3-galactosyltransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B3GALT6-congenital disorder of glycosylation"	None
A4GALT-congenital disorder of glycosylation	a4galt-cdg//a4galt-related congenital disorder of glycosylation	A4GALT	A4GALT	https://raresource.nih.gov/literature/disease/0027281	0027281			CN379145		alpha 1,4-galactosyltransferase (P1PK blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=A4GALT-congenital disorder of glycosylation"	None
FAM20B-congenital disorder of glycosylation	fam20b-cdg	FAM20B	FAM20B	https://raresource.nih.gov/literature/disease/0027282	0027282			CN379146		FAM20B glycosaminoglycan xylosylkinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FAM20B-congenital disorder of glycosylation"	None
ALG10-congenital disorder of glycosylation	alg10-cdg	ALG10	ALG10	https://raresource.nih.gov/literature/disease/0027283	0027283			CN379147		ALG10 alpha-1,2-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG10-congenital disorder of glycosylation"	None
COL1A2-related osteogenesis imperfecta		COL1A2	COL1A2	https://raresource.nih.gov/literature/disease/0027284	0027284			CN379211		collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COL1A2-related osteogenesis imperfecta"	None
COL1A1-related Ehlers-Danlos syndrome		COL1A1	COL1A1	https://raresource.nih.gov/literature/disease/0027285	0027285			CN379214		collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COL1A1-related Ehlers-Danlos syndrome"	None
COL2A1-related spondyloepiphyseal dysplasia		COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0027287	0027287			CN379216		collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COL2A1-related spondyloepiphyseal dysplasia"	1
COL1A2-related Ehlers-Danlos syndrome		COL1A2	COL1A2	https://raresource.nih.gov/literature/disease/0027289	0027289			CN379219		collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COL1A2-related Ehlers-Danlos syndrome"	None
Ciliary dyskinesia, primary, 54	cfap54-related primary ciliary dyskinesia	CFAP54	CFAP54	https://raresource.nih.gov/literature/disease/0027290	0027290	621125		CN379175		cilia and flagella associated protein 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ciliary dyskinesia, primary, 54"	None
Familial isolated dilated cardiomyopathy	familial or idiopathic dilated cardiomyopathy	LMOD2;TTN;ACTC1;TXNRD2;MYPN;PSEN1;GATAD1;PLN;SDHA;TNNC1;ANKRD1;RBM20;LAMA4;MYH7;TAF1A;TAFAZZIN;VCL;CAP2;NEXN;ABCC9;LMNA;MYH6;TNNI3;CSRP3;DSG2;DSP;MYBPC3;BAG5;PSEN2;RPL3L;TMPO;VEZF1;JPH2;ACTN2;DES;FKTN;HAND2;GET3;SCN5A;PRDM16;DMD;RAF1;SGCD;TNNT2;TPM1;LDB3;DOLK;CRYAB;PPCS;C10orf71;FHL2;BAG3;TCAP	LMOD2;TTN;ACTC1;TXNRD2;MYPN;PSEN1;GATAD1;PLN;SDHA;TNNC1;ANKRD1;RBM20;LAMA4;MYH7;TAF1A;TAFAZZIN;VCL;CAP2;NEXN;ABCC9;LMNA;MYH6;TNNI3;CSRP3;DSG2;DSP;MYBPC3;BAG5;PSEN2;RPL3L;TMPO;VEZF1;JPH2;ACTN2;DES;FKTN;HAND2;GET3;SCN5A;PRDM16;DMD;RAF1;SGCD;TNNT2;TPM1;LDB3;DOLK;CRYAB;PPCS;C10orf71;FHL2;BAG3;TCAP	https://raresource.nih.gov/literature/disease/0027293	0027293		154	C5679590		leiomodin 2; titin; actin alpha cardiac muscle 1; thioredoxin reductase 2; myopalladin; presenilin 1; GATA zinc finger domain containing 1; phospholamban; succinate dehydrogenase complex flavoprotein subunit A; troponin C1, slow skeletal and cardiac type; ankyrin repeat domain 1; RNA binding motif protein 20; laminin subunit alpha 4; myosin heavy chain 7; TATA-box binding protein associated factor, RNA polymerase I subunit A; tafazzin, phospholipid-lysophospholipid transacylase; vinculin; cyclase associated actin cytoskeleton regulatory protein 2; nexilin F-actin binding protein; ATP binding cassette subfamily C member 9; lamin A/C; myosin heavy chain 6; troponin I3, cardiac type; cysteine and glycine rich protein 3; desmoglein 2; desmoplakin; myosin binding protein C3; BAG cochaperone 5; presenilin 2; ribosomal protein L3 like; thymopoietin; vascular endothelial zinc finger 1; junctophilin 2; actinin alpha 2; desmin; fukutin; heart and neural crest derivatives expressed 2; guided entry of tail-anchored proteins factor 3, ATPase; sodium voltage-gated channel alpha subunit 5; PR/SET domain 16; dystrophin; Raf-1 proto-oncogene, serine/threonine kinase; sarcoglycan delta; troponin T2, cardiac type; tropomyosin 1; LIM domain binding 3; dolichol kinase; crystallin alpha B; phosphopantothenoylcysteine synthetase; chromosome 10 open reading frame 71; four and a half LIM domains 2; BAG cochaperone 3; titin-cap	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated dilated cardiomyopathy"	4
Renal tubular dysgenesis - ACE	ace related renal tubular dysgenesis	ACE	ACE	https://raresource.nih.gov/literature/disease/0027294	0027294			CN379149		angiotensin I converting enzyme	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal tubular dysgenesis - ACE"	None
DNM1-encephalopathy and neurodevelopmental disorder	dnm1-related dee//dnm1-related developmental and epileptic encephalopathy	DNM1	DNM1	https://raresource.nih.gov/literature/disease/0027295	0027295			CN379150		dynamin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DNM1-encephalopathy and neurodevelopmental disorder"	None
TMEM63B-related developmental and epileptic encephalopathy with anemia	tmem63b-related dee with anaemia//tmem63b-related dee with anemia//tmem63b-related developmental and epileptic encephalopathy with anaemia	TMEM63B	TMEM63B	https://raresource.nih.gov/literature/disease/0027306	0027306			CN379030		transmembrane protein 63B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TMEM63B-related developmental and epileptic encephalopathy with anemia"	None
Hypertriglyceridemia 2		CREB3L3	CREB3L3	https://raresource.nih.gov/literature/disease/0027307	0027307	619324		C5543398		cAMP responsive element binding protein 3 like 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypertriglyceridemia 2"	None
BDV syndrome	bdv (blakemore durmaz vasileiou) syndrome//blakemore durmaz vasileiou syndrome//blakemore-durmaz-vasileiou syndrome//carboxypeptidase e-related prader-willi-like syndrome//cpe-related prader-willi-like syndrome//intellectual developmental disorder and hypogonadotropic hypogonadism	CPE	CPE	https://raresource.nih.gov/literature/disease/0027308	0027308	619326	633028	C5543403		carboxypeptidase E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BDV syndrome"	1
Neurodegeneration, childhood-onset, with progressive microcephaly	conpm	DTYMK	DTYMK	https://raresource.nih.gov/literature/disease/0027309	0027309	619847		C5676972		deoxythymidylate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, with progressive microcephaly"	1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	nedhisb	GNAI1	GNAI1	https://raresource.nih.gov/literature/disease/0027310	0027310	619854		C5676975		G protein subunit alpha i1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	None
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction		LETM1	LETM1	https://raresource.nih.gov/literature/disease/0027311	0027311	620089		C5774240		leucine zipper and EF-hand containing transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	None
Neurodegeneration and seizures due to copper transport defect	nsct	SLC31A1	SLC31A1	https://raresource.nih.gov/literature/disease/0027312	0027312	620306		C5830385		solute carrier family 31 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration and seizures due to copper transport defect"	2
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	condcac	CAPRIN1	CAPRIN1	https://raresource.nih.gov/literature/disease/0027313	0027313	620636		C5882726		cell cycle associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline"	None
PUM1-associated developmental disability-ataxia-seizure syndrome	neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism	PUM1	PUM1	https://raresource.nih.gov/literature/disease/0027314	0027314		589515	CN376901		pumilio RNA binding family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PUM1-associated developmental disability-ataxia-seizure syndrome"	None
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	nedhafa//renu//renu syndrome//rnu4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome//rnu4-2-related neurodevelopmental syndrome//rnu4-2-related renu syndrome	RNU4-2	RNU4-2	https://raresource.nih.gov/literature/disease/0027315	0027315	620851	686488	C5935628		RNA, U4 small nuclear 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language"	15
Spastic paraplegia 93, autosomal recessive		NFU1	NFU1	https://raresource.nih.gov/literature/disease/0027316	0027316	620938		C5975375		NFU1 iron-sulfur cluster scaffold	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 93, autosomal recessive"	184
Methylmalonic aciduria and homocystinuria, cb1L type	methylmalonic aciduria and homocystinuria, cbll type	THAP11	THAP11	https://raresource.nih.gov/literature/disease/0027317	0027317	620940		C5975387		THAP domain containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Methylmalonic aciduria and homocystinuria, cb1L type"	None
Spinocerebellar ataxia 51		THAP11	THAP11	https://raresource.nih.gov/literature/disease/0027318	0027318	620947		C5975394		THAP domain containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia 51"	1
Multiple mitochondrial dysfunctions syndrome 10		CIAO1	CIAO1	https://raresource.nih.gov/literature/disease/0027319	0027319	620960		C5975413		cytosolic iron-sulfur assembly component 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple mitochondrial dysfunctions syndrome 10"	None
Cholestasis, progressive familial intrahepatic, 13	maddirevula-shagrani-ji syndrome	PSKH1	PSKH1	https://raresource.nih.gov/literature/disease/0027320	0027320	620962		C5975422		protein serine kinase H1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholestasis, progressive familial intrahepatic, 13"	None
Congenital myopathy 25		JPH1	JPH1	https://raresource.nih.gov/literature/disease/0027321	0027321	620964		C5975432		junctophilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital myopathy 25"	None
Microphthalmia/coloboma 13		NHEJ1	NHEJ1	https://raresource.nih.gov/literature/disease/0027322	0027322	620968		C5975436		non-homologous end joining factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia/coloboma 13"	None
Arthrogryposis multiplex congenita 7, X-linked		THOC2	THOC2	https://raresource.nih.gov/literature/disease/0027323	0027323	301127		C5974872		THO complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis multiplex congenita 7, X-linked"	None
Orofaciodigital syndrome 21	orofaciodigital syndrome xxi	ZRSR2	ZRSR2	https://raresource.nih.gov/literature/disease/0027324	0027324	301132		C5974875		zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome 21"	None
Intellectual developmental disorder, X-linked 114		SRPK3	SRPK3	https://raresource.nih.gov/literature/disease/0027325	0027325	301134		C5974891		SRSF protein kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, X-linked 114"	None
Anemia, congenital dyserythropoietic, type IVb	anemia, congenital, with hereditary persistence of fetal and embryonic hemoglobin//cda, type ivb	KLF1	KLF1	https://raresource.nih.gov/literature/disease/0027326	0027326	620969		C5975438		KLF transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anemia, congenital dyserythropoietic, type IVb"	None
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2		DTNA	DTNA	https://raresource.nih.gov/literature/disease/0027327	0027327	620971		C5975449		dystrobrevin alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2"	221
Leukodystrophy, hypomyelinating, 28		MAL	MAL	https://raresource.nih.gov/literature/disease/0027328	0027328	620978		C5975460		mal, T cell differentiation protein (MAL blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukodystrophy, hypomyelinating, 28"	None
Pancreatic agenesis 3		ZNF808	ZNF808	https://raresource.nih.gov/literature/disease/0027329	0027329	620991		C5975489		zinc finger protein 808	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic agenesis 3"	853
Retinitis pigmentosa 98		TMEM216	TMEM216	https://raresource.nih.gov/literature/disease/0027330	0027330	620996		C5975495		transmembrane protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 98"	None
Fibromatosis, gingival, 6		ZNF862	ZNF862	https://raresource.nih.gov/literature/disease/0027331	0027331	620999		C5975501		zinc finger protein 862	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 6"	None
Premature ovarian failure 25		SPATA22	SPATA22	https://raresource.nih.gov/literature/disease/0027332	0027332	621002		C5975510		spermatogenesis associated 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 25"	None
Congenital disorder of glycosylation, type 1DD		DHRSX	DHRSX	https://raresource.nih.gov/literature/disease/0027333	0027333	301133		C5974887		dehydrogenase/reductase X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation, type 1DD"	None
Basal ganglia calcification, idiopathic, 10, autosomal recessive		CMPK2	CMPK2	https://raresource.nih.gov/literature/disease/0027334	0027334	621018		C5975532		cytidine/uridine monophosphate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Basal ganglia calcification, idiopathic, 10, autosomal recessive"	None
Cerebral cavernous malformations 5		MAP3K3	MAP3K3	https://raresource.nih.gov/literature/disease/0027335	0027335	621032		C5975541		mitogen-activated protein kinase kinase kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral cavernous malformations 5"	None
AARS1-related leukoencephalopathy		AARS1	AARS1	https://raresource.nih.gov/literature/disease/0027336	0027336			CN379160		alanyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AARS1-related leukoencephalopathy"	None
Brachydactyly type D	bdd//stub thumb//type d brachydactyly	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0027354	0027354	113200		C0220664	C562420	homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type D"	1139
Dermatofibrosis lenticularis disseminata	bos//buschke-ollendorf syndrome//buschke-ollendorff syndrome//dermato-osteopoikilosis//dermatofibrosis lenticularis disseminata with osteopoikilosis//dermatoosteopoikilosis//disseminated dermatofibrosis//disseminated dermatofibrosis with osteopoikilosis//osteopathia condensans disseminata//osteopoikilosis with or without melorheostosis	LEMD3	LEMD3	https://raresource.nih.gov/literature/disease/0027355	0027355	166700		C0265514	C537415	LEM domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dermatofibrosis lenticularis disseminata"	1336
Shashi-Pena syndrome	shapns//shashi-pena syndrome; shapns	ASXL2	ASXL2	https://raresource.nih.gov/literature/disease/0027359	0027359	617190	689408	C4310672		ASXL transcriptional regulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shashi-Pena syndrome"	11
Turnpenny-fry syndrome	neurocardioskeletal syndrome	PCGF2	PCGF2	https://raresource.nih.gov/literature/disease/0027364	0027364	618371	688642	C5193060		polycomb group ring finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Turnpenny-fry syndrome"	4
Neurooculocardiogenitourinary syndrome		WDR37	WDR37	https://raresource.nih.gov/literature/disease/0027365	0027365	618652	684305	C5231443		WD repeat domain 37	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurooculocardiogenitourinary syndrome"	2
Poirier-Bienvenu neurodevelopmental syndrome	pobinds	CSNK2B	CSNK2B	https://raresource.nih.gov/literature/disease/0027366	0027366	618732	689397	C5231482		casein kinase 2 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Poirier-Bienvenu neurodevelopmental syndrome"	20
Beck-Fahrner syndrome	befahrs	TET3	TET3	https://raresource.nih.gov/literature/disease/0027367	0027367	618798	684216	C5394097		tet methylcytosine dioxygenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beck-Fahrner syndrome"	5
Deeah syndrome	developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities	MADD	MADD	https://raresource.nih.gov/literature/disease/0027368	0027368	619004	686495	C5436579		MAP kinase activating death domain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deeah syndrome"	None
Immunodeficiency 53		RELB	RELB	https://raresource.nih.gov/literature/disease/0027369	0027369	617585	688594	C4539811		RELB proto-oncogene, NF-kB subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 53"	None
DCTN1-related neurodegeneration		DCTN1	DCTN1	https://raresource.nih.gov/literature/disease/0027375	0027375			CN379461		dynactin subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DCTN1-related neurodegeneration"	1
CFTR-related metabolic syndrome	crms	CFTR	CFTR	https://raresource.nih.gov/literature/disease/0027376	0027376			CN379197		CF transmembrane conductance regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CFTR-related metabolic syndrome"	94
DMD-related muscular dystrophy	dmd-related musculodystrophy	DMD	DMD	https://raresource.nih.gov/literature/disease/0027378	0027378			CN379372		dystrophin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DMD-related muscular dystrophy"	1
Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy		KLC4	KLC4	https://raresource.nih.gov/literature/disease/0027380	0027380	621129		CN379179		kinesin light chain 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy"	None
Homocystinuria-megaloblastic anemia cblD type		MMADHC	MMADHC	https://raresource.nih.gov/literature/disease/0027384	0027384	620952		C1848553		metabolism of cobalamin associated D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Homocystinuria-megaloblastic anemia cblD type"	None
Isolated methylmalonic aciduria cblD type	methylmalonic aciduria, cbld type//methylmalonic aciduria, cbld type, variant 2	MMADHC	MMADHC	https://raresource.nih.gov/literature/disease/0027385	0027385			CN378546		metabolism of cobalamin associated D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated methylmalonic aciduria cblD type"	None
ACTH-independent macronodular adrenal hyperplasia 3	aimah3//cushing syndrome, food-dependent	KDM1A	KDM1A	https://raresource.nih.gov/literature/disease/0027386	0027386	620990		C5975485		lysine demethylase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACTH-independent macronodular adrenal hyperplasia 3"	None
Achalasia-progeroid syndrome		BUD13	BUD13	https://raresource.nih.gov/literature/disease/0027387	0027387	621123		CN379172		BUD13 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achalasia-progeroid syndrome"	None
Fischer-Zirnsak progeroid syndrome		SUPT7L	SUPT7L	https://raresource.nih.gov/literature/disease/0027388	0027388	621130		CN379177		SPT7 like, STAGA complex subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fischer-Zirnsak progeroid syndrome"	None
Marbach-Schaaf neurodevelopmental syndrome	masns	PRKAR1B	PRKAR1B	https://raresource.nih.gov/literature/disease/0027395	0027395	619680		C5562050		protein kinase cAMP-dependent type I regulatory subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marbach-Schaaf neurodevelopmental syndrome"	2
Immunodeficiency 109 with lymphoproliferation	imd109	TNFRSF9	TNFRSF9	https://raresource.nih.gov/literature/disease/0027396	0027396	620282	664726	C5830346		TNF receptor superfamily member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 109 with lymphoproliferation"	None
Morimoto-Ryu-Malicdan neuromuscular syndrome		RFC4	RFC4	https://raresource.nih.gov/literature/disease/0027404	0027404	621010		C5975521		replication factor C subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Morimoto-Ryu-Malicdan neuromuscular syndrome"	1
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome		SATB1	SATB1	https://raresource.nih.gov/literature/disease/0027405	0027405		684232	CN379608		SATB homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome"	None
Combined immunodeficiency due to TBX1 deficiency		TBX1	TBX1	https://raresource.nih.gov/literature/disease/0027409	0027409		685017	CN379611		T-box transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to TBX1 deficiency"	None
Reticular dysgenesis-like severe combined immunodeficiency		RAC2	RAC2	https://raresource.nih.gov/literature/disease/0027422	0027422		688543	CN379623		Rac family small GTPase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reticular dysgenesis-like severe combined immunodeficiency"	None
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome		ANO5	ANO5	https://raresource.nih.gov/literature/disease/0027423	0027423		689021	CN379624		anoctamin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome"	None
Adenoid ameloblastoma		CTNNB1	CTNNB1	https://raresource.nih.gov/literature/disease/0027425	0027425		689430	C5207962		catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenoid ameloblastoma"	43
Premature ovarian failure 26		MGA	MGA	https://raresource.nih.gov/literature/disease/0027426	0027426	621065		C5975591		MAX dimerization protein MGA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Premature ovarian failure 26"	None
Mitochondrial dna depletion syndrome 21		GUK1	GUK1	https://raresource.nih.gov/literature/disease/0027427	0027427	621071		C5975599		guanylate kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial dna depletion syndrome 21"	None
Myopathy, myofibrillar, 13, with rimmed vacuoles	rimmed vacuolar myopathy	HSPB8	HSPB8	https://raresource.nih.gov/literature/disease/0027428	0027428			C5975603		heat shock protein family B (small) member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, myofibrillar, 13, with rimmed vacuoles"	11
Heterotaxy, visceral, 13, autosomal		DAND5	DAND5	https://raresource.nih.gov/literature/disease/0027429	0027429	621079		C5975607		DAN domain BMP antagonist family member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 13, autosomal"	736
Heterotaxy, visceral, 14, autosomal		CIROZ	CIROZ	https://raresource.nih.gov/literature/disease/0027430	0027430	621080		C5975611		ciliated left-right organizer protein containing ZP-N domains	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heterotaxy, visceral, 14, autosomal"	None
Neuronopathy, distal hereditary motor, autosomal dominant 15	neuropathy, distal hereditary motor, autosomal dominant 15	BAG3	BAG3	https://raresource.nih.gov/literature/disease/0027432	0027432	621094		C5975628		BAG cochaperone 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronopathy, distal hereditary motor, autosomal dominant 15"	None
Charcot-Marie-tooth disease, axonal, type 2JJ	charcot-marie-tooth neuropathy, type 2jj	BAG3	BAG3	https://raresource.nih.gov/literature/disease/0027433	0027433	621095		C5975629		BAG cochaperone 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-tooth disease, axonal, type 2JJ"	None
Spondyloepimetaphyseal dysplasia, Li-Shao-Li type		CCN2	CCN2	https://raresource.nih.gov/literature/disease/0027434	0027434	621099		CN379036		cellular communication network factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Li-Shao-Li type"	None
Intellectual developmental disorder, autosomal recessive 83		KICS2	KICS2	https://raresource.nih.gov/literature/disease/0027435	0027435	621100		CN379045		KICSTOR subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal recessive 83"	None
Perrault syndrome 7		DAP3	DAP3	https://raresource.nih.gov/literature/disease/0027436	0027436	621101		CN379037		death associated protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome 7"	None
Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment		SLC9A6	SLC9A6	https://raresource.nih.gov/literature/disease/0027437	0027437	301142		CN379087		solute carrier family 9 member A6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment"	None
CYP7B1-related disorder of oxysterol accumulation		CYP27B1	CYP27B1	https://raresource.nih.gov/literature/disease/0027439	0027439			CN379469		cytochrome P450 family 27 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CYP7B1-related disorder of oxysterol accumulation"	None
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	nedrihf//neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties//pura-related neurodevelopmental disorders	PURA	PURA	https://raresource.nih.gov/literature/disease/0027440	0027440		438213	C4015357		purine rich element binding protein A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"	6
XFE progeroid syndrome	xfeps//xpf-ercc1 progeroid syndrome	ERCC4	ERCC4	https://raresource.nih.gov/literature/disease/0027518	0027518	610965		C1970416	C567043	ERCC excision repair 4, endonuclease catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=XFE progeroid syndrome"	10
Alzheimer disease 17	ad17//alzheimer disease 17, late onset//alzheimer disease 17, late-onset//alzheimer's disease 17//alzheimer's disease type 17	TREM2	TREM2	https://raresource.nih.gov/literature/disease/0027519	0027519	615080		C3554452		triggering receptor expressed on myeloid cells 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzheimer disease 17"	None
Neurodevelopmental disorder with language impairment and behavioral abnormalities	gria2-related complex neurodevelopmental disorder//gria2-related neurodevelopmental disorder//nedlib	GRIA2	GRIA2	https://raresource.nih.gov/literature/disease/0027520	0027520	618917		C5394502		glutamate ionotropic receptor AMPA type subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with language impairment and behavioral abnormalities"	1
Fibrosis, neurodegeneration, and cerebral angiomatosis	fibrosis, neurodegeneration, cerebral angiomatosis syndrome//fibrosis-neurodegeneration-cerebral angiomatosis syndrome//finca//finca (fibrosis, neurodegeneration, cerebral angiomatosis) syndrome//finca syndrome//interstitial lung fibrosis, neurodegeneration, cerebral angiomatosis syndrome	NHLRC2	NHLRC2	https://raresource.nih.gov/literature/disease/0027522	0027522	618278	621758	C4748939		NHL repeat containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrosis, neurodegeneration, and cerebral angiomatosis"	12
Myopathy, distal, 6, adult-onset, autosomal dominant	myopathy, distal, 6, adult onset	ACTN2	ACTN2	https://raresource.nih.gov/literature/disease/0027523	0027523	618655		C5203349		actinin alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopathy, distal, 6, adult-onset, autosomal dominant"	None
Kilquist syndrome	kilqs//slc12a2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome	SLC12A2	SLC12A2	https://raresource.nih.gov/literature/disease/0027524	0027524	619080	633021	C5436756		solute carrier family 12 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kilquist syndrome"	3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0027527	0027527	617820		C4693325		glutamate ionotropic receptor NMDA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"	None
SOX11-related complex neurodevelopmental disorder with or without congenital anomalies		SOX11	SOX11	https://raresource.nih.gov/literature/disease/0027530	0027530			CN379463		SRY-box transcription factor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SOX11-related complex neurodevelopmental disorder with or without congenital anomalies"	None
DNAJC21-related Shwachman Diamond syndrome		DNAJC21	DNAJC21	https://raresource.nih.gov/literature/disease/0027534	0027534			CN380024		DnaJ heat shock protein family (Hsp40) member C21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DNAJC21-related Shwachman Diamond syndrome"	None
Monilethrix-2		KRT81	KRT81	https://raresource.nih.gov/literature/disease/0027536	0027536	621169		CN379205		keratin 81	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monilethrix-2"	None
Monilethrix-3		KRT83	KRT83	https://raresource.nih.gov/literature/disease/0027537	0027537	621170		CN379206		keratin 83	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monilethrix-3"	None
Monilethrix-1		KRT86	KRT86	https://raresource.nih.gov/literature/disease/0027538	0027538			CN379234		keratin 86	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monilethrix-1"	None
CEP164-related ciliopathy	ciliopathy-cep164	CEP164	CEP164	https://raresource.nih.gov/literature/disease/0027539	0027539			CN379591		centrosomal protein 164	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CEP164-related ciliopathy"	None
SDHC-related Mitochondrial Disease		SDHC	SDHC	https://raresource.nih.gov/literature/disease/0027540	0027540			CN379767		succinate dehydrogenase complex subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SDHC-related Mitochondrial Disease"	None
ACTN2-related cardiac and skeletal myopathy		ACTN2	ACTN2	https://raresource.nih.gov/literature/disease/0027541	0027541			CN379592		actinin alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACTN2-related cardiac and skeletal myopathy"	None
GRIN2B-related complex neurodevelopmental disorder		GRIN2B	GRIN2B	https://raresource.nih.gov/literature/disease/0027542	0027542			CN379886		glutamate ionotropic receptor NMDA type subunit 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GRIN2B-related complex neurodevelopmental disorder"	None
ACTC1-related distal arthrogryposis with congenital heart disease		ACTC1	ACTC1	https://raresource.nih.gov/literature/disease/0027543	0027543					actin alpha cardiac muscle 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACTC1-related distal arthrogryposis with congenital heart disease"	None
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome		HMGB1	HMGB1	https://raresource.nih.gov/literature/disease/0027544	0027544					high mobility group box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome"	None
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency		NFS1;LYRM4	NFS1;LYRM4	https://raresource.nih.gov/literature/disease/0027545	0027545		397593			NFS1 cysteine desulfurase; LYR motif containing 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"	None
AFG3L2-related optic atrophy and/or spastic ataxia spectrum		AFG3L2	AFG3L2	https://raresource.nih.gov/literature/disease/0027546	0027546					AFG3 like matrix AAA peptidase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AFG3L2-related optic atrophy and/or spastic ataxia spectrum"	None
Idiopathic Pulmonary Fibrosis	cryptogenic fibrosing alveolitis//idiopathic fibrosing alveolitis, chronic form//ipf//ipf - idiopathic pulmonary fibrosis	MUC5B;SFTPA2;TERT;TERC;SFTPC	MUC5B;SFTPA2;TERT;TERC;SFTPC	https://raresource.nih.gov/literature/disease/0027547	0027547	178500	2032	C1800706	D054990	mucin 5B, oligomeric mucus/gel-forming; surfactant protein A2; telomerase reverse transcriptase; telomerase RNA component; surfactant protein C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic Pulmonary Fibrosis"	15056
RECON progeroid syndrome	recon	RECQL	RECQL	https://raresource.nih.gov/literature/disease/0027548	0027548	620370		C5830504		RecQ like helicase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RECON progeroid syndrome"	None
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder		CAPRIN1	CAPRIN1	https://raresource.nih.gov/literature/disease/0027549	0027549	620782		C5935603		cell cycle associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder"	None
Immunodeficiency 120		POLD1	POLD1	https://raresource.nih.gov/literature/disease/0027550	0027550	620836		C5935622		DNA polymerase delta 1, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 120"	None
Congenital disorder of glycosylation type 1EE with or without immunodeficiency		MAN2B2	MAN2B2	https://raresource.nih.gov/literature/disease/0027561	0027561	621140		CN379184		mannosidase alpha class 2B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital disorder of glycosylation type 1EE with or without immunodeficiency"	None
Holoprosencephaly 10		DISP1	DISP1	https://raresource.nih.gov/literature/disease/0027562	0027562	621143		CN379202		dispatched RND transporter family member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Holoprosencephaly 10"	None
Cranioectodermal dysplasia 5		IFT140	IFT140	https://raresource.nih.gov/literature/disease/0027563	0027563	621180		CN379235		intraflagellar transport 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia 5"	None
CFAP46-related primary ciliary dyskinesia		CFAP46	CFAP46	https://raresource.nih.gov/literature/disease/0027564	0027564			CN379627		cilia and flagella associated protein 46	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CFAP46-related primary ciliary dyskinesia"	None
Autosomal dominant nebulin-related myopathy		NEB	NEB	https://raresource.nih.gov/literature/disease/0027566	0027566			CN379769		nebulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nebulin-related myopathy"	None
Adult hypophosphatasia	adult phosphoethanolaminuria//adult rathbun disease//hypophosphatasia of adults//hypophosphatasia, adult type	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0027567	0027567	146300	247676	C0268413		alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult hypophosphatasia"	48
Childhood hypophosphatasia	childhood-onset hypophosphatasia//childhood-onset phosphoethanolaminuria//childhood-onset rathbun disease//hypophosphatasia of childhood//hypophosphatasia, childhood type//juvenile hypophosphatasia//pediatric hypophosphatasia	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0027568	0027568	241510	247667	C0220743	C562440	alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood hypophosphatasia"	19
Infantile hypophosphatasia	congenital hypophosphatasia//fetal hypophosphatasia//foetal hypophosphatasia//hypophosphatasia, infantile type//infantile phosphoethanolaminuria//infantile rathbun disease//rathbun syndrome	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0027569	0027569	241500	247651	C0268412		alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile hypophosphatasia"	106
NFATC1-related combined immunodeficiency		NFATC1	NFATC1	https://raresource.nih.gov/literature/disease/0027571	0027571			CN380030		nuclear factor of activated T cells 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NFATC1-related combined immunodeficiency"	None
POLD2-related combined immunodeficiency		POLD2	POLD2	https://raresource.nih.gov/literature/disease/0027572	0027572			CN380031		DNA polymerase delta 2, accessory subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=POLD2-related combined immunodeficiency"	None
POLD3-related combined immunodeficiency		POLD3	POLD3	https://raresource.nih.gov/literature/disease/0027573	0027573			CN380032		DNA polymerase delta 3, accessory subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=POLD3-related combined immunodeficiency"	None
IKZF2-related combined immunodeficiency	helios-related immunodeficiency	IKZF2	IKZF2	https://raresource.nih.gov/literature/disease/0027574	0027574			CN380033		IKAROS family zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IKZF2-related combined immunodeficiency"	None
CHD7-related CHARGE syndrome	charge syndrome due to chd7 deficiency	CHD7	CHD7	https://raresource.nih.gov/literature/disease/0027575	0027575					chromodomain helicase DNA binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHD7-related CHARGE syndrome"	None
OFD1-related ciliopathy		OFD1	OFD1	https://raresource.nih.gov/literature/disease/0027576	0027576			CN379779		OFD1 centriole and centriolar satellite protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=OFD1-related ciliopathy"	None
KCNV2-related retinopathy		KCNV2	KCNV2	https://raresource.nih.gov/literature/disease/0027577	0027577			CN379630		potassium voltage-gated channel modifier subfamily V member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KCNV2-related retinopathy"	1
CRX-related retinopathy		CRX	CRX	https://raresource.nih.gov/literature/disease/0027578	0027578			CN379631		cone-rod homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CRX-related retinopathy"	1
ARL6-related ciliopathy		ARL6	ARL6	https://raresource.nih.gov/literature/disease/0027579	0027579			CN379632		ARF like GTPase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ARL6-related ciliopathy"	None
REEP6-related retinopathy		REEP6	REEP6	https://raresource.nih.gov/literature/disease/0027580	0027580			CN379633		receptor accessory protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=REEP6-related retinopathy"	None
MKS1-related ciliopathy		MKS1	MKS1	https://raresource.nih.gov/literature/disease/0027581	0027581			CN379634		MKS transition zone complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MKS1-related ciliopathy"	None
SPATA7-related retinopathy		SPATA7	SPATA7	https://raresource.nih.gov/literature/disease/0027582	0027582			CN379635		spermatogenesis associated 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SPATA7-related retinopathy"	None
TUBB4B-related ciliopathy		TUBB4B	TUBB4B	https://raresource.nih.gov/literature/disease/0027583	0027583			CN379474		tubulin beta 4B class IVb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TUBB4B-related ciliopathy"	None
ACO2-related optic atrophy with or without extraocular features		ACO2	ACO2	https://raresource.nih.gov/literature/disease/0027584	0027584			CN380034		aconitase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ACO2-related optic atrophy with or without extraocular features"	None
GRIN1-related complex neurodevelopmental disorder	grin1-related developmental and epileptic encephalopathy//grin1-related neurodevelopmental disorder	GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0027585	0027585			CN379770		glutamate ionotropic receptor NMDA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GRIN1-related complex neurodevelopmental disorder"	1
GRIN2A-related complex neurodevelopmental disorder	grin2a-related condition//grin2a-related disorder	GRIN2A	GRIN2A	https://raresource.nih.gov/literature/disease/0027588	0027588			CN379781		glutamate ionotropic receptor NMDA type subunit 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GRIN2A-related complex neurodevelopmental disorder"	1
Retinitis pigmentosa 7, digenic	retinitis pigmentosa 7, digenic form	ROM1	ROM1	https://raresource.nih.gov/literature/disease/0027592	0027592			C2675552		retinal outer segment membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa 7, digenic"	None
FGFR1-related Pfeiffer syndrome		FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0027594	0027594			CN379887		fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FGFR1-related Pfeiffer syndrome"	None
FGFR2-related Pfeiffer syndrome		FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0027595	0027595			CN379888		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FGFR2-related Pfeiffer syndrome"	None
INTU-related skeletal ciliopathy		INTU	INTU	https://raresource.nih.gov/literature/disease/0027598	0027598			CN379894		inturned planar cell polarity protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=INTU-related skeletal ciliopathy"	None
ELANE-related neutropenia		ELANE	ELANE	https://raresource.nih.gov/literature/disease/0027601	0027601			CN380037		elastase, neutrophil expressed	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ELANE-related neutropenia"	2
FLNB-associated autosomal dominant filamin related bone disorder		FLNB	FLNB	https://raresource.nih.gov/literature/disease/0027604	0027604			CN380040		filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FLNB-associated autosomal dominant filamin related bone disorder"	None
Systemic lupus erythematosus related to C1QA		C1QA	C1QA	https://raresource.nih.gov/literature/disease/0027605	0027605			CN380041		complement C1q A chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic lupus erythematosus related to C1QA"	None
Systemic lupus erythematosus related to C1S		C1S	C1S	https://raresource.nih.gov/literature/disease/0027606	0027606			CN380042		complement C1s	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic lupus erythematosus related to C1S"	None