Browse Rare Disease Information

The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the disease name, lists all the disease aliases available in RARe-SOURCE™ for this disease as well as recent publications obtained from PubMed. Clicking on the associated gene lands on the ‘Gene Information’ page with specific details on the gene.

Rare Disease Name	Disease Aliases	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	OMIM	Orphanet	UMLS	Mesh	ICD10CM	Gene Descriptions	Links	Manually Curated	Curated Count	PMID Count
GRACILE syndrome	fellman syndrome//finnish lethal neonatal metabolic syndrome//flnms//fellman disease//finnish lactic acidosis with hepatic hemosiderosis//finnish, lactic acidosis with hepatic hemosiderosis//growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death//growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death//growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death//growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome//growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death//growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome//lactic acidosis, finnish, with hepatic hemosiderosis//gracile syndrome	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"	0	0	28
Ablepharon macrostomia syndrome	ams//ablepharon-macrostomia syndrome//congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies//ablepharon macrostomia syndrome//ablepharon-macrostomia syndrome; ams//poikiloderma with neutropenia, clericuzio type	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"	0	0	1414
Abetalipoproteinemia	abl//abl - abetalipoproteinemia//acanthocytosis//abetalipoproteinemia neuropathy//acanthocytoses//apolipoprotein b deficiency//bassen-kornzweig syndrome//bassen kornzweig disease//bassen kornzweig syndrome//bassen-kornzweig disease//betalipoprotein deficiency disease//betalipoprotein deficiency diseases//congenital betalipoprotein deficiency syndrome//deficiency disease, betalipoprotein//deficiency diseases, betalipoprotein//disease, betalipoprotein deficiency//diseases, betalipoprotein deficiency//homozygous familial hypobetalipoproteinemia//low-density beta lipoprotein deficiency//microsomal triglyceride transfer protein deficiency//mtp deficiency//microsomal triglyceride transfer protein deficiency disease//microsomal-triglyceride transfer protein deficiency//abetalipoproteinemia//abetalipoproteinemia; abl//familial hypobetalipoproteinemia	MTTP	MTTP	https://raresource.nih.gov/literature/disease/0000005	0000005	605019	14	C0000744	D000012		microsomal triglyceride transfer protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Abetalipoproteinemia"	0	0	1006
Acromicric dysplasia	acmicd//acromicric skeletal dysplasia//acromicric dysplasia//acromicric dysplasia; acmicd	LTBP3;FBN1	LTBP3;FBN1	https://raresource.nih.gov/literature/disease/0000007	0000007	102370	969	C0265287	C535662		latent transforming growth factor beta binding protein 3;fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromicric dysplasia"	0	0	34
Alternating hemiplegia of childhood	ahc//alternating hemiplegia//alternating hemiplegia in childhood//alternating hemiplegia syndrome//adrenal hypoplasia congenita//alternating hemiplegia of childhood//childhood alternating hemiplegia//congenital adrenal hypoplasia//congenital adrenal gland hypoplasia//pediatric alternating hemiplegia	SLC1A3;CACNA1A;ATP1A3;ATP1A2	SLC1A3;CACNA1A;ATP1A3;ATP1A2	https://raresource.nih.gov/literature/disease/0000011	0000011	614820	2131	C0338488	C536589		solute carrier family 1 member 3;calcium voltage-gated channel subunit alpha1 A;ATPase Na+/K+ transporting subunit alpha 3;ATPase Na+/K+ transporting subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alternating hemiplegia of childhood"	0	0	1050
Aniridia-cerebellar ataxia-intellectual disability syndrome	aniridia, cerebellar ataxia, and mental retardation//aniridia cerebellar ataxia mental deficiency//aniridia, cerebellar ataxia, and mental deficiency//aniridia, cerebellar ataxia and mental deficiency//aniridia, cerebellar ataxia, intellectual disability syndrome//aniridia, partial-cerebellar ataxia-mental retardation//aniridia, partial-cerebellar ataxia-oligophrenia//gillespie syndrome; glsp//glsp//gillespie syndrome//aniridia, cerebellar ataxia, and intellectual disability//aniridia-cerebellar ataxia-intellectual disability syndrome	PAX6;ITPR1	PAX6;ITPR1	https://raresource.nih.gov/literature/disease/0000013	0000013	206700	1065	C0431401			paired box 6;inositol 1,4,5-trisphosphate receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aniridia-cerebellar ataxia-intellectual disability syndrome"	0	0	44
Dihydropyrimidine dehydrogenase deficiency	5-fluorouracil toxicity//dpd deficiency//dpd deficiencies//dpyd deficiency//dypd deficiency//deficiencies, dpd//deficiencies, dihydropyrimidine dehydrogenase//deficiency, dpd//deficiency, dihydropyrimidine dehydrogenase//dehydrogenase deficiencies, dihydropyrimidine//dehydrogenase deficiency, dihydropyrimidine//dihydropyrimidine dehydrogenase deficiencies//dihydropyrimidinurias//dihydrothymine dehydrogenase deficiency//dihydrouracil dehydrogenase deficiency//dihydrouracil dehydrogenase (nadp) deficiency//dihydrouracil dehydrogenase (nadp^+^) deficiency//dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency//familial pyrimidemia//familial pyrimidemias//familial pyrimidinemia//familial pyrimidinemias//hereditary thymine uraciluria//hereditary thymine-uraciluria//hereditary thymine-uracilurias//pyrimidinemia, familial//pyrimidemia, familial//pyrimidemias, familial//pyrimidinemia familial//pyrimidinemias, familial//sensitivity to fluorouracil toxicity//thymine-uraciluria, hereditary//thymine uraciluria, hereditary//thymine-uraciluria//thymine-uracilurias, hereditary//dihydropyrimidine dehydrogenase deficiency//familial pyrimidinaemia//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"	0	0	376
Björnstad syndrome	bjs//björnstad syndrome//bjornstad syndrome//bjornstad syndrome; bjs//bjornstad's syndrome//deafness - pili torti - hypogonadism//deafness and pili torti, bjornstad type//deafness-pili torti-hypogonadism syndrome//hearing loss-pili torti-hypogonadism syndrome//pili torti and nerve deafness//ptd//ptnd//pili torti-deafness syndrome//pili torti-sensorineural hearing loss	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[]=Björnstad syndrome"	0	0	962
Catel-Manzke syndrome	catmans//catel manzke syndrome//catel-manzke syndrome//catel-manzke syndrome; catmans//catel-manzke type//hyperphalangy-clinodactyly of index finger with pierre robin syndrome//index finger anomaly with pierre robin syndrome//index finger anomaly - pierre robin syndrome//index finger anomaly-pierre robin syndrome//micrognathia digital syndrome//palatodigital syndrome, catel-manzke type//pierre robin syndrome with hyperphalangy and clinodactyly//palatodigital syndrome//palatodigital syndrome catel-manzke type//pierre robin sequence - hyperphalangy - clinodactyly//pierre robin sequence-hyperphalangy-clinodactyly syndrome//pierre robin syndrome - hyperphalangy - clinodactyly//pierre robin syndrome-hyperphalangy-clinodactyly syndrome	TGDS	TGDS	https://raresource.nih.gov/literature/disease/0000028	0000028	302380	1388	C1844887	C535347		TDP-glucose 4,6-dehydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catel-Manzke syndrome"	0	0	30
CHARGE syndrome	association, charge//associations, charge//charge//charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies//charge association//charge associations//charge syndrome, familial//charge syndromes//charge syndromes, familial//coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities//coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome//coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies//coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association//coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome//colobomatous microphthalmia, heart disease, hearing loss, and mental retardation//familial charge syndrome//familial charge syndromes//hall-hittner syndrome//hhs//hall hittner syndrome//hittner hirsch kreh syndrome//syndrome, charge//syndrome, hall-hittner//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	SEMA3E;CHD7	SEMA3E;CHD7	https://raresource.nih.gov/literature/disease/0000029	0000029	214800	138	C0265354	D058747		semaphorin 3E;chromodomain helicase DNA binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHARGE syndrome"	0	0	1523
Haim-Munk syndrome	cochin jewish disorder//haim-munk syndrome; hms//hms//haim munk syndrome//keratosis palmoplantaris with periodontopathia and onychogryposis//keratosis palmoplantaris - periodontopathia - onychogryposis//keratosis palmoplantaris with periodontopathia and onychogryposis syndrome//keratosis palmoplantaris-periodontopathia-onychogryposis syndrome//palmoplantar hyperkeratosis - periodontopathia - onychogryposis//palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome//palmoplantar keratoderma - periodontopathia - onychogryposis//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"	0	0	384
Crigler-Najjar syndrome type 1	bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1//bilirubin-ugt deficiency type 1//crigler-najjar syndrome//crigler najjar syndrome, type 1//crigler-najjar syndrome, type 1//crigler-najjar syndrome, type i//hblrcn1//hyperbilirubinemia, crigler-najjar type i//hereditary unconjugated hyperbilirubinemia type 1//ugt deficiency type 1//hyperbilirubinemia, crigler-najjar type 1	UGT1A1	UGT1A1	https://raresource.nih.gov/literature/disease/0000047	0000047	218800	79234	C2931131	C536212		UDP glucuronosyltransferase family 1 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crigler-Najjar syndrome type 1"	0	0	366
Isolated cytochrome C oxidase deficiency	cox - cytochrome c oxidase deficiency//cox deficiency//cytochrome c oxidase deficiency//complex 4 mitochondrial respiratory chain deficiency//complex iv deficiencies//complex iv deficiency//cox deficiencies//cytochrome oxidase deficiencies//cytochrome oxidase deficiency//cytochrome-c oxidase deficiencies//cytochrome-c oxidase deficiency//deficiencies, complex iv//deficiencies, cox//deficiencies, cytochrome oxidase//deficiencies, cytochrome-c oxidase//deficiency of mitochondrial respiratory chain complex4//deficiency, complex iv//deficiency, cox//deficiency, cytochrome oxidase//deficiency, cytochrome c oxidase//deficiency, cytochrome-c oxidase//isolated cox deficiency//isolated mitochondrial respiratory chain complex iv deficiency//mc4dn1//mitochondrial complex iv deficiency//oxidase deficiencies, cytochrome//oxidase deficiencies, cytochrome-c//oxidase deficiency, cytochrome//oxidase deficiency, cytochrome-c//cytochrome-c oxidase deficiency disease//isolated cytochrome c oxidase deficiency//mitochondrial complex 4 deficiency	COX4I1;COX5A;COX6A2;COX6B1;COX8A;COX14;PET117;COA3;COX10;COX20	COX4I1;COX5A;COX6A2;COX6B1;COX8A;COX14;PET117;COA3;COX10;COX20	https://raresource.nih.gov/literature/disease/0000048	0000048	619061	254905	C0268237			cytochrome c oxidase subunit 4I1;cytochrome c oxidase subunit 5A;cytochrome c oxidase subunit 6A2;cytochrome c oxidase subunit 6B1;cytochrome c oxidase subunit 8A;cytochrome c oxidase assembly factor COX14;PET117 cytochrome c oxidase chaperone;cytochrome c oxidase assembly factor 3;cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10;cytochrome c oxidase assembly factor COX20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated cytochrome C oxidase deficiency"	0	0	596
Spinocerebellar ataxia type 34	erythrokeratodermia with ataxia//erythrokeratodermia - ataxia//erythrokeratodermia ataxia//giroux barbeau syndrome//sca34//spinocerebellar ataxia 34//spinocerebellar ataxia and erythrokeratodermia//spinocerebellar ataxia 34; sca34//spinocerebellar ataxia type 34	ELOVL4	ELOVL4	https://raresource.nih.gov/literature/disease/0000059	0000059	133190	1955	C2930921	C535738		ELOVL fatty acid elongase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 34"	0	0	21
Filippi syndrome	filippi syndrome; flpis//flpis//scott craniodigital syndrome with mental retardation//syndactyly, type i, with microcephaly and mental retardation//scott craniodigital syndrome with intellectual disability//syndactyly type 1 - microcephaly - intellectual disability//syndactyly type i with microcephaly and mental retardation//type 1 syndactyly, microcephaly, intellectual disability syndrome//type 1 syndactyly-microcephaly-intellectual disability syndrome//unusual facial appearance, microcephaly, growth and mental retardation and syndactyly//woods syndrome//woods-crouchman-huson syndrome//microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome//syndactyly type i with microcephaly and intellectual disability//syndactyly, type i, with microcephaly and intellectual disability//unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly	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"	0	0	25
Galloway-Mowat syndrome	camos//gamos//galloway mowat syndrome//galloway syndrome//galloway-mowat syndrome//galloway-mowat syndrome; gamos//hiatal hernia-microcephaly-nephrosis, galloway type//microcephaly, hiatal hernia, and nephrotic syndrome//microcephaly - hiatus hernia - nephrotic syndrome//microcephaly nephrosis syndrome//microcephaly, hiatus hernia, and nephrotic syndrome//microcephaly, hiatal hernia and nephrotic syndrome//microcephaly, hiatus hernia, nephrotic syndrome//microcephaly-hiatus hernia-nephrotic syndrome//nephrosis - neuronal dysmigration syndrome//nephrosis neuronal dysmigration syndrome//nephrosis, neuronal dysmigration syndrome//nephrosis-microcephaly syndrome//nephrosis-neuronal dysmigration syndrome//cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities//cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities//spinocerebellar ataxia, autosomal recessive 5//spinocerebellar ataxia, autosomal recessive 5, formerly	TPRKB;NUP107;OSGEP;NUP133;WDR4;TP53RK;WDR73;LAGE3	TPRKB;NUP107;OSGEP;NUP133;WDR4;TP53RK;WDR73;LAGE3	https://raresource.nih.gov/literature/disease/0000065	0000065	618349	2065	C0795949	C537548		TP53RK binding protein;nucleoporin 107;O-sialoglycoprotein endopeptidase;nucleoporin 133;WD repeat domain 4;TP53 regulating kinase;WD repeat domain 73;L antigen family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galloway-Mowat syndrome"	0	0	89
Gorlin-Chaudhry-Moss syndrome	afa syndrome//acrocephalopolysyndactyly//acrocephalosyndactyly [apert]//acromegaloid facial appearance//acromegaloid facial appearance syndrome//craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence//craniofacial dysostosis - genital, dental, cardiac anomalies//craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies//craniofacial dysostosis-genital//craniofacial dysostosis-genital, dental, cardiac anomalies syndrome//cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora//cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome//cryptophthalmos syndrome//cyclopia//dental and eye anomalies-patent ductus arteriosus-normal intelligence//dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome//fps//fontaine progeroid syndrome//fontaine progeroid syndrome; fps//gcm syndrome//gcms//gorlin-chaudhry-moss syndrome//goldenhar syndrome//gorlin chaudhry moss syndrome//oro-facial-digital syndrome//progeroid syndrome, congenital, petty type//petty laxova wiedemann syndrome//petty syndrome//petty-laxova-wiedemann syndrome//progeroid syndrome petty type//robin syndrome//thick lips and oral mucosa//whistling face//cardiac anomalies syndrome//craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora//dental//dental and eye anomalies, patent ductus arteriosus, and normal intelligence//progeroid syndrome congenital petty type//progeroid syndrome, petty type	SLC25A24	SLC25A24	https://raresource.nih.gov/literature/disease/0000066	0000066	612289	2095	C0345382	C537290		solute carrier family 25 member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gorlin-Chaudhry-Moss syndrome"	0	0	9403
X-linked hyper-IgM syndrome	cd40 ligand deficiency//higm//higm1//higm1 syndrome//higm1 syndromes//higmx-1//hyper-igm immunodeficiency, x-linked//hyper-igm syndrome//hyper-igm syndrome 1//hyper igm immunodeficiency syndrome, type 1//hyper igm immunodeficiency, x linked//hyper igm immunodeficiency, x-linked//hyper igm syndrome//hyper igm syndrome 1//hyper-igm immunodeficiencies, x-linked//hyper-igm immunodeficiency syndrome//hyper-igm immunodeficiency syndrome, type 1//hyper-igm syndrome due to cd40 ligand deficiency//hyper-igm syndrome due to cd40l deficiency//hyper-igm syndrome type 1//ihis//imd3//immunodeficiency 3//immunodeficiencies, x-linked hyper-igm//immunodeficiency with hyper igm, type 1//immunodeficiency with hyper igm type 1//immunodeficiency, x-linked hyper-igm//x linked hyper igm syndrome//x-linked hyper-igm immunodeficiencies//x-linked hyper-igm immunodeficiency//x-linked hyper igm syndrome//x-linked hyper-immunoglobulin m syndrome//x-linked with hyper-igm immunodeficiency//xhigm//xhim//hyper-igm syndrome, x-linked//hyperimmunoglobulin m syndrome//hyperimmunoglobulin m syndrome (disorder)//immunodeficiency with hyper-igm, type 1//immunodeficiency with hyper-igm, type 1; higm1	CD40LG	CD40LG	https://raresource.nih.gov/literature/disease/0000073	0000073	308230	101088	C0398689			CD40 ligand	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked hyper-IgM syndrome"	0	0	607
Metaphyseal chondrodysplasia, Jansen type	jansen disease//jansen metaphyseal dysostosis//jansen metaphyseal chondrodysplasia//jansen type metaphyseal chondrodysplasia//jansen's metaphyseal chondrodysplasia//mcdj//metaphyseal chondrodysplasia, murk jansen type//metaphyseal chondrodysplasia, 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"	0	0	57
Johanson-Blizzard syndrome	ectodermal dysplasia-exocrine pancreatic insufficiency//jbs//johanson blizzard syndrome//johanson-blizzard syndrome; jbs//johanson-blizzard syndrome//malabsorption-ectodermal dysplasia-nasal alar hypoplasia//nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness//nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness//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		ubiquitin protein ligase E3 component n-recognin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Johanson-Blizzard syndrome"	0	0	136
Intellectual developmental disorder, x-linked, syndromic, turner type	alpha-thalassemia/mental retardation syndrome, nondeletion type//alpha-thalassemia/mental retardation syndrome, x-linked//alpha-thalassemia/intellectual disability syndrome, x-linked//alpha-thalassemia/intellectual disability syndrome, x-linked; atrx//alpha-thalassemia/mental retardation syndrome, x-linked; atrx//atr non deletion type//atr, nondeletion type//atr-x syndrome//atr-x-related syndrome//atrx//atrx syndrome//alpha thalassemia x-linked intellectual disability syndrome//alpha thalassemia x-linked mental retardation syndrome//alpha thalassemia-mental retardation, x-linked//alpha thalassemia x-linked intellectual deficit//alpha thalassemia intellectual disability syndrome, nondeletion type, x-linked//alpha thalassemia mental retardation syndrome, non deletion type, x-linked//alpha thalassemia mental retardation syndrome, nondeletion type, x-linked//alpha thalassemia/intellectual disability syndrome x-linked//alpha thalassemia/mental retardation syndrome x-linked//alpha-thalassemia x-linked intellectual disability syndrome//alpha-thalassemia-mental retardation syndrome, nondeletion type//alpha-thalassemia-mental retardation syndrome, nondeletion type, x-linked//alpha-thalassemia x-linked mental retardation syndrome//alpha-thalassemia x-linked intellectual disability syndrome//alpha-thalassemia/intellectual disability syndrome, nondeletion type//carpenter-waziri syndrome//chudley-lowry syndrome//chudley lowry hoar syndrome//chudley intellectual disability syndrome//chudley mental retardation syndrome//chudley syndrome 1//chudley-lowry-hoar syndrome//holmes-gang syndrome//intellectual disability, x-linked with growth delay, deafness, microgenitalism//intellectual disability, x-linked, with growth retardation, deafness, and microgenitalism//jms//juberg marsidi syndrome//juberg-marsidi intellectual disability syndrome//juberg-marsidi syndrome//mrxhf1//mental retardation//mental retardation smith fineman myers type//sfm1//sfms//smith-fineman-myers syndrome 1//smith fineman myers syndrome//smith fineman myers syndrome 1//smith-fineman-myers syndrome//x-linked alpha-thalassemia mental retardation syndrome//x-linked alpha thalassemia mental retardation syndrome//x-linked alpha-thalassemia/intellectual disability syndrome//x-linked hypogonadism gynecomastia intellectual disability//x-linked hypogonadism gynecomastia mental retardation//x-linked intellectual disability-hypotonic face syndrome//x-linked intellectual disability-hypotonic facies syndrome 1//xlmr hypotonic face syndrome//xlmr-hypotonic facies syndrome//xlmr-hypotonic face syndrome//alpha thalassemia-x-linked intellectual disability syndrome//alpha-thalassemia/intellectual disability syndrome nondeletion type//alpha-thalassemia/mental retardation syndrome nondeletion type//and microgenitalism//brooks-wisniewski-brown syndrome//brooks-wisniewski-brown type//deafness//intellectual disability smith fineman myers type//intellectual disability-hypotonic facies syndrome x-linked, 1//intellectual disability-hypotonic facies syndrome, x-linked, 1//intellectual disability-hypotonic facies syndrome, x-linked, 1; mrxhf1//intellectual disability-hypotonic facies syndrome, x-linked, type 1//mental retradation, x-linked with growth delay, deafness, microgenitalism//mental retardation and macrocephaly syndrome//mental retardation, x-linked, with growth retardation, deafness, and microgenitalism//mental retardation-hypotonic facies syndrome x-linked, 1//mental retardation-hypotonic facies syndrome, x-linked, 1//mental retardation-hypotonic facies syndrome, x-linked, 1; mrxhf1//mental retardation-hypotonic facies syndrome, x-linked, type 1//syndromic//turner type//with growth retardation//x-linked	HUWE1	HUWE1	https://raresource.nih.gov/literature/disease/0000081	0000081			C0796003			HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, x-linked, syndromic, turner type"	0	0	37732
KBG syndrome	kbg syndrome; kbgs//kbgs//macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies//short stature - facial and skeletal anomalies - intellectual disability - macrodontia//short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies//short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome//short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome//macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies//short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies	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"	0	0	144
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 syndrome//kenny-caffey syndrome type 2//kenny-caffey syndrome, autosomal dominant//kenny-caffey syndrome, type 2//kenny-caffey syndrome, type 2; kcs2//autosomal dominant kenny-caffey syndrome	FAM111A	FAM111A	https://raresource.nih.gov/literature/disease/0000083	0000083	127000	93325				FAM111 trypsin like peptidase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Kenny-Caffey syndrome"	0	0	23
Lipodystrophy, congenital generalized, type 1	agpat2 congenital generalized lipodystrophy (disease)//agpat2-related brunzell syndrome//berardinelli-seip congenital lipodystrophy, type 1//brunzell syndrome, agpat2-related//bscl1//berardinelli-seip congenital lipodystrophy type 1//berardinelli-seip congenital lipodystrophy//brunzell syndrome agpat2-related//cgl1//congenital generalized lipodystrophy type 1//lipodystrophy, berardinelli-seip congenital, type 1//agpat2-related//berardinelli-seip congenital//brunzell syndrome//congenital generalized lipodystrophy (disease) caused by mutation in agpat2//lipodystrophy//lipodystrophy, congenital generalized, type 1//lipodystrophy, congenital generalized, type 1; cgl1//type 1	AGPAT2	AGPAT2	https://raresource.nih.gov/literature/disease/0000084	0000084			C1720862			1-acylglycerol-3-phosphate O-acyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipodystrophy, congenital generalized, type 1"	0	0	6287
Chudley-McCullough syndrome	cmcs//chudley mccullough syndrome//chudley-mccullough syndrome; cmcs//chudley-mccullough syndrome//deafness, autosomal recessive 82, formerly//deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts//dfnb82, formerly//deafness, autosomal recessive 82//deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction	GPSM2	GPSM2	https://raresource.nih.gov/literature/disease/0000086	0000086	604213	314597	C1858695			G protein signaling modulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chudley-McCullough syndrome"	0	0	176
Microphthalmia, Lenz type	anop1//anop1, formerly//lenz dysmorphogenic syndrome//lenz syndrome//lenz dysplasia//lenz microphthalmia//lenz microphthalmia syndrome//lenz microphthamia syndrome//maa (formerly)//maa, formerly//mcops1//mcops4, formerly//microphthalmia, syndromic 4//microphthalmia, syndromic 4, formerly//microphthalmia lenz type//microphthalmia or anophthalmos with associated anomalies//microphthalmia or anophthalmos with associated anomalies (formerly)//microphthalmia syndromic 1//microphthalmia, syndromic 1//syndromic microphthalmia type 1//microphthalmia, lenz type	BCOR;NAA10	BCOR;NAA10	https://raresource.nih.gov/literature/disease/0000087	0000087	309800	568	C0796016			BCL6 corepressor;N-alpha-acetyltransferase 10, NatA catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, Lenz type"	0	0	233
Mal de Meleda	acroerythrokeratoderma//disease, meleda//keratosis palmoplantaris transgrediens of siemens//keratosis palmoplantaris transgradiens of siemens//mal de meleda; mdm//mdm//meleda disease//meleda, mal de//transgrediens palmoplantar keratoderma of siemens//de meleda, mal//mal de meleda	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[]=Mal de Meleda"	0	0	193
Monilethrix	beaded hair//congenital beaded hair//hair, nodose//hairs, nodose//mnlix//monilethrices//moniliform hair syndrome//nodose hair//nodose hairs//monilethrix//monilethrix; mnlix	KRT81;DSG4;KRT86;KRT83	KRT81;DSG4;KRT86;KRT83	https://raresource.nih.gov/literature/disease/0000093	0000093	158000	573	C0546966	D056734		keratin 81;desmoglein 4;keratin 86;keratin 83	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monilethrix"	0	0	117
Mucolipidosis type IV	berman syndrome//deficiency disease, ganglioside sialidase//ganglioside sialidase deficiency disease//ganglioside neuraminidase deficiency//ganglioside sialidase deficiency//ml 4//ml iv//ml4//mliv//mucolipidoses, type iv//mucolipidosis type 4//mucolipidosis, type iv//sialolipidosis//sialolipidoses//type iv mucolipidoses//type iv mucolipidosis//mucolipidosis 4//mucolipidosis iv//mucolipidosis iv; ml4//mucolipidosis type iv	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"	0	0	1438
Mulibrey nanism	mul//muscle-liver-brain-eye nanism//mulibrey nanism//mulibrey nanism syndrome//mulibrey growth disorder//muscle liver brain eye nanism//muscle, liver, brain, eye nanism syndrome//nanism syndrome, mulibrey//nanism, mulibrey//nanism, muscle-liver-brain-eye//perheentupa syndrome//pericardial constriction and growth failure//pericardial constriction - growth failure//pericardial constriction with growth failure//syndrome, mulibrey nanism//syndrome, perheentupa//mulibrey dwarfism//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"	0	0	78
Ochoa syndrome	facial palsy, partial, with urinary abnormalities//hydronephrosis with peculiar facial expression//hydronephrosis - inverted smile//hydronephrosis-inverted smile//hydronephrosis-inverted smile syndrome//inverted smile and occult neuropathic bladder//inverted smile-neurogenic bladder//inverted smile - neurogenic bladder//inverted smile-neurogenic bladder syndrome//ochoa syndrome//partial facial palsy with urinary abnormalities//ufs//ufs1//urofacial syndrome//urofacial syndrome 1//urofacial ochoa's syndrome//urofacial syndrome 1; ufs1//urofacial syndrome type 1	HPSE2;LRIG2	HPSE2;LRIG2	https://raresource.nih.gov/literature/disease/0000104	0000104	615112	2704	C0403555	C536480		heparanase 2 (inactive);leucine rich repeats and immunoglobulin like domains 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ochoa syndrome"	0	0	253
Adult polyglucosan body disease	apbd//apbn//adult polyglucosan body disease//polyglucosan body disease, adult form//polyglucosan body neuropathy, adult form//polyglucosan body disease, adult//polyglucosan body neuropathy, adult form; apbn	GBE1	GBE1	https://raresource.nih.gov/literature/disease/0000108	0000108	263570	206583	C1849722			1,4-alpha-glucan branching enzyme 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult polyglucosan body disease"	0	0	98
Progressive osseous heteroplasia	cutaneous ossification//cutaneous osteosis//ectopic ossification, familial//ectopic ossification familial type//familial ectopic ossification//miliary osteoma//osteoma cutis//osseus heteroplasia, progressive//osteodermia//osteomatosis//osteosis cutis//poh//progressive osseous heteroplasia//progressive osseus heteroplasia (poh)//osseous heteroplasia, progressive//osseous heteroplasia, progressive; poh	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0000109	0000109	166350	2762	C0334041			GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive osseous heteroplasia"	0	0	454
Alpha-N-acetylgalactosaminidase deficiency type 1	alpha-n-acetylgalactosaminidase deficiency, type i//alpha-n-acetylgalactosaminidase deficiency, type iii//alpha-n-acetylgalactosaminidase deficiency, type 1//alpha-n-acetylgalactosaminidase deficiency, type 3//n-acetyl-alpha-d-galactosaminidase deficiency type iii//naga deficiency, type i//naga deficiency, type iii//naga deficiency type 1//naga deficiency type 3//naga deficiency, type 1//naga deficiency, type 3//neuroaxonal dystrophy, schindler type//schindler disease, type iii//schindler disease type 1//schindler disease type 3//schindler disease type i//schindler disease, type 1//schindler disease, type 3//schindler disease, type i//alpha-n-acetylgalactosaminidase deficiency type 1	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"	0	0	1
Schinzel-Giedion syndrome	sgs//schinzel giedion midface-retraction syndrome//schinzel giedion syndrome//schinzel-giedion midface retraction syndrome//schinzel-giedion midface-retraction syndrome	SETBP1	SETBP1	https://raresource.nih.gov/literature/disease/0000117	0000117	269150	798	C0265227			SET binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schinzel-Giedion syndrome"	0	0	403
Ulnar-mammary syndrome	pallister ulnar-mammary syndrome//schinzel syndrome//ums//ulnar mammary syndrome//ulnar-mammary syndrome of pallister//ulnar-mammary syndrome//ulnar-mammary syndrome; 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"	0	0	212
Focal facial dermal dysplasia type III	bitemporal aplasia cutis congenita//bitemporal forceps marks syndrome//brauer syndrome//facial ectodermal dysplasia//ffdd - focal facial dermal dysplasia//ffdd type 2//ffdd type i//ffdd type iii//ffdd, type 1//ffdd1//ffdd3//focal facial dermal dysplasia, type ii//focal facial dermal dysplasia, type ii, formerly//focal facial dermal dysplasia//focal facial dermal dysplasia 1, brauer type//focal facial dermal dysplasia 3//focal facial dermal dysplasia 3, setleis type//focal facial dermal dysplasia type 1//focal facial dermal dysplasia type 2//hereditary symmetrical aplastic nevi of temples//setleis syndrome//setleis type//focal facial dermal dysplasia 1, brauer type; ffdd1//focal facial dermal dysplasia 3, setleis type; ffdd3//focal facial dermal dysplasia type i//focal facial dermal dysplasia type iii	TWIST2	TWIST2	https://raresource.nih.gov/literature/disease/0000121	0000121	227260	1807	C1744559	C536385		twist family bHLH transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Focal facial dermal dysplasia type III"	0	0	43
Singleton-Merten dysplasia	ifih1 singleton-merten dysplasia//merten-singleton syndrome//sgmrt1//sm syndrome//singleton-merten syndrome//singleton-merten syndrome 1//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//singleton merten syndrome//singleton-merten dysplasia//singleton-merten dysplasia caused by mutation in ifih1//singleton-merten syndrome 1; sgmrt1	IFIH1	IFIH1	https://raresource.nih.gov/literature/disease/0000122	0000122	182250	85191	C0432254			interferon induced with helicase C domain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Singleton-Merten dysplasia"	0	0	45
Spondyloepimetaphyseal dysplasia congenita, Strudwick type	dappled metaphysis syndrome//semd, strudwick type//semdc//semdstwk//smd//smed strudwick type//smed type 1//smed, strudwick type//smed, type i//spondylometaepiphyseal dysplasia congenita, strudwick type//spondylometaphyseal dysplasia//strudwick syndrome//smed, type 1//spondyloepimetaphyseal dysplasia strudwick type//spondyloepimetaphyseal dysplasia congenita, strudwick type//spondyloepimetaphyseal dysplasia, strudwick type//spondyloepimetaphyseal dysplasia, strudwick type; semdstwk	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 congenita, Strudwick type"	0	0	625
Familial atrial myxoma	atrial myxoma, familial//intracardiac myxoma//myxoma, intracardiac//familial atrial myxoma	PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0000139	0000139	255960	615	C1850635	C538262		protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial atrial myxoma"	0	0	56
Laurin-Sandrow syndrome	fibula and ulna, duplication of, with absence of tibia and radius//fibula ulna duplication tibia radius absence//laurin-sandrow syndrome, segmental//lss//laurin sandrow syndrome//mip//mipduplication of fibuland ulna with absence of tibia and radius//mirror hands and feet with nasal defects//mirror-image polydactyly//mirror hands and feet co-occurrent with nasal defect//mirror hands and feets - nasal defects//mirror hands and feets-nasal defects syndrome//mirror image duplication of digits//mirror image polydactyly//sandrow syndrome//tetramelic mirror-image polydactyly//tmip//laurin-sandrow syndrome//laurin-sandrow syndrome; lss//miccor hands and feet with nasal defects	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"	0	0	1540
Muscle-eye-brain disease	meb//meb (muscle-eye-brain) syndrome//meb syndrome//muscle eye brain disease//muscle-eye-brain diseases//muscle-eye-brain syndrome//muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a3//pomgnt1-related muscle diseases//santavuori congenital muscular dystrophy//muscle-eye-brain disease	FKTN;POMT1;LARGE1;FKRP;POMGNT1;POMT2;GMPPB;B3GALNT2	FKTN;POMT1;LARGE1;FKRP;POMGNT1;POMT2;GMPPB;B3GALNT2	https://raresource.nih.gov/literature/disease/0000156	0000156	613150	588	C0457133			fukutin;protein O-mannosyltransferase 1;LARGE xylosyl- and glucuronyltransferase 1;fukutin related protein;protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-);protein O-mannosyltransferase 2;GDP-mannose pyrophosphorylase B;beta-1,3-N-acetylgalactosaminyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muscle-eye-brain disease"	0	0	234
Sarcosinemia	deficiency of the sarcosine dehydrogenase complex//demethylation defect of n-methylglycine//hypersarcosinemia//high plasma sarcosine levels//sar//sar deficiency//sarcos//sarcosine dehydrogenase complex deficiency//sard deficiency//sardh deficiency//sardhd//sarcosin dehydrogenase complex, deficiency of//sarcosine dehydrogenase complex, deficiency of//sarcosine dehydrogenase deficiency//sarcosinuria//sarcosinemia//sarcosinemia; sarcos	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[]=Sarcosinemia"	0	0	764
Scalp-ear-nipple syndrome	adrenal cyst with ectodermal dysplasia//ectodermal dysplasia with adrenal cyst//ectodermal dysplasia adrenal cyst//finlay-marks syndrome//finlay marks syndrome//hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples//odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome//sen syndrome//sens//scalp ear nipple syndrome//scalp, ear, nipple syndrome//scalp-ear-nipple syndrome//tuffli laxova syndrome//scalp-ear-nipple 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"	0	0	45
Schneckenbecken dysplasia	chondrodysplasia, lethal neonatal, with snail-like pelvis//chondrodysplasia lethal neonatal with snail like pelvis//chondrodysplasia with snail-like pelvis//shnknd//slc35d1-cdg//schneckenbecken dysplasia//schneckenbecken dysplasia; shnknd	INPPL1;SLC35D1	INPPL1;SLC35D1	https://raresource.nih.gov/literature/disease/0000169	0000169	269250	3144	C0432194	C536637		inositol polyphosphate phosphatase like 1;solute carrier family 35 member D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schneckenbecken dysplasia"	0	0	16
MYH9-related disease	myh9-rd//myh9-related disorder//myh9-related syndrome//myh9-related syndromic thrombocytopenia	MYH9	MYH9	https://raresource.nih.gov/literature/disease/0000180	0000180	155100	182050	C1854520			myosin heavy chain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYH9-related disease"	0	0	132
Stargardt disease	abca4-related stargardt disease 1//cngb3-related stargardt disease 1//degeneration, stargardt macular//eosrd//early-onset severe retinal dystrophy//ffm//ffm - fundus flavimaculatus//fundus flavimaculatus//familial juvenile macular degeneration syndrome//juvenile onset macular degeneration//macular degeneration, juvenile//macular dystrophy with flecks, type 1//macular degeneration, stargardt//retinal dystrophy, early-onset severe//secord//stargardt disease 1//stgd//stgd1//stargardt 1//stargardt disease, autosomal recessive//stargardt macular degeneration//stargardt macular degenerations//stargardt disease 1; stgd1//stargardt disease type 1//stargardt macular dystrophy//stargardt's disease//severe early-childhood-onset retinal dystrophy	ABCA4;CNGB3;ELOVL4;PROM1;PRPH2	ABCA4;CNGB3;ELOVL4;PROM1;PRPH2	https://raresource.nih.gov/literature/disease/0000181	0000181	603786	827	C1855465			ATP binding cassette subfamily A member 4;cyclic nucleotide gated channel subunit beta 3;ELOVL fatty acid elongase 4;prominin 1;peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stargardt disease"	0	0	1373
Best vitelliform macular dystrophy	best macular dystrophy//best vitelliform macular dystrophy, multifocal//best1 retinopathy//bmd//bvmd//best disease//early-onset vitelliform macular dystrophy//juvenile-onset vitelliform macular dystrophy//macular degeneration, polymorphic vitelline//polymorphic vitelline macular degeneration//retinopathy, burgess-black type//vitelliform macular dystrophy, early-onset//vitelliform macular dystrophy, juvenile-onset//vmd2//vitelliform macular dystrophy type 2//macular dystrophy, vitelliform, 2//macular dystrophy, vitelliform, 2; vmd2//macular dystrophy, vitelliform, type 2//vitelliform macular dystrophy 2	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0000182	0000182	153700	1243	C0339510			bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Best vitelliform macular dystrophy"	0	0	1330
Opitz GBBB syndrome	ados//bbb syndrome//bbbg1//chromosome 22q11.2 deletion syndrome, opitz phenotype//g syndrome//gbbb syndrome//gbbb1//gbbb2//hypertelorism with esophageal abnormality and hypospadias//hypertelorism-hypospadias syndrome//hypospadias-dysphagia syndrome//hypertelorism hypospadias syndrome//hypertelorism-oesophageal abnormality-hypospadias syndrome//hypospadias-dysphagia, syndrome//hypospadias-hypertelorism syndrome//ogs1//ogs2//opitz bbbg syndrome//opitz bbbg syndrome, type i//opitz gbbb syndrome, autosomal dominant//opitz gbbb syndrome, x-linked//opitz oculogenitolaryngeal syndrome, type ii//opitz syndrome//opitz syndrome, x-linked//opitz-frias syndrome//opitz-g syndrome, type i//opitz-g syndrome, type ii//os//osx//opitz bbb/g syndrome//opitz bbbg syndrome, type 1//opitz g syndrome//opitz g/bbb syndrome//opitz g/bbb syndrome, x-linked//opitz g/bbb syndrome, autosomal dominant//opitz gbbb syndrome, type 1//opitz gbbb syndrome, type 2//opitz gbbb syndrome, type i//opitz gbbb syndrome, type i; gbbb1//opitz gbbb syndrome, type ii//opitz gbbb syndrome, type ii; gbbb2//opitz oculogenitolaryngeal syndrome, type 2//opitz-g syndrome, type 1//opitz-g syndrome, type 2//opitz-gbbb syndrome//telecanthus with associated abnormalities//telecanthus-hypospadias syndrome//x-linked opitz bbb/g syndrome//x-linked opitz g/bbb syndrome//x-linked opitz syndrome//xlos//autosomal dominant opitz bbb/g syndrome//autosomal dominant opitz g/bbb syndrome//autosomal dominant opitz syndrome	MID1	MID1	https://raresource.nih.gov/literature/disease/0000193	0000193	145410	2745	C2936904			midline 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Opitz GBBB syndrome"	0	0	5392
Gamma-aminobutyric acid transaminase deficiency	4 alpha aminobutyrate transaminase deficiency//abat//gaba aminotransferase deficiency//gaba transaminase deficiency//gaba-transaminase deficiency//gabat//gamma aminobutyrate transaminase deficiency//gamma aminobutyric acid transaminase deficiency//gamma-amino butyric acid transaminase deficiency//gamma-aminobutyric acid 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"	0	0	24
Hyperkalemic periodic paralysis	adynamia episodica hereditaria with or without myotonia//adynamia episodica hereditaria//disease, gamstorp//familial hyperkalemic periodic paralysis//familial hyperpp//gamstorp disease//gamstorp episodic adynamy//hypp//hyperkpp//hyperpp//hyperkalemic pp//hyperkalemic periodic paralysis//hyperkalemic periodic paralysis type 2//hyperkalemic periodic paralysis, familial//hyperkaliemic periodic paralysis type 2//myotonic periodic paralysis//normokalemic periodic paralysis, potassium-sensitive//paralysis, hyperkalemic periodic//paralysis, periodic, hyperkalemic, familial//periodic hyperkalemic paralysis//periodic paralysis ii//primary hyperkalemic periodic paralysis//primary hyperpp//sodium channel muscle disease//familial hyperkalemic periodic paralysis (disorder) [ambiguous]//hyperkalemic periodic paralysis; hypp	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0000195	0000195	170500	682	C2930895	D020513		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperkalemic periodic paralysis"	0	0	322
Proximal spinal muscular atrophy type 3	familial spinal muscular atrophy//juvenile muscular atrophy//juvenile spinal muscular atrophy//kugelberg-welander syndrome//kws//kugelberg welander disease//kugelberg welander syndrome//kugelberg-welander disease//muscular atrophy, juvenile//muscular atrophy, spinal, type iii//sma 3//sma iii//sma type 3//sma type iii//sma-iii//sma3//spinal muscular atrophy, mild childhood and adolescent form//spinal muscular atrophy, type iii//spinal muscular atrophy type 3//spinal muscular atrophy type iii//spinal muscular atrophy of childhood//spinal muscular atrophy, juvenile//type iii spinal muscular atrophy//childhood spinal muscular atrophy//pediatric spinal muscular atrophy//proximal spinal muscular atrophy type 3//spinal muscular atrophy iii//spinal muscular atrophy, familial//spinal muscular atrophy, type 3//spinal muscular atrophy, type iii; sma3	SMN2;NAIP;SMN1	SMN2;NAIP;SMN1	https://raresource.nih.gov/literature/disease/0000198	0000198	253400	83419	C0152109			survival of motor neuron 2, centromeric;NLR family apoptosis inhibitory protein;survival of motor neuron 1, telomeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal spinal muscular atrophy type 3"	0	0	290
Rotor syndrome	hblrr//hyperbilirubinemia, rotor type, digenic//hyperbilirubinemia//hyperbilirubinemia type i//hyperbilirubinemia, rotor type//rotor syndrome//rotor type hyperbilirubinemia//rotor type//rotor-type hyperbilirubinemia//syndrome, rotor//hyperbilirubinemia, rotor type; hblrr	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"	0	0	6557
Radial hemimelia	clubhand (congenital)//congenital longitudinal deficiency of the radius//radial clubhand//radial longitidinal meromelia//radial longitidinal meromelia, bilateral//radial ray agenesis//radial hemimelia//radial hemimelia, bilateral//radial hemimelia, unilateral//radial longitidinal meromelia, unilateral	SHH;LMBR1	SHH;LMBR1	https://raresource.nih.gov/literature/disease/0000225	0000225		93321				sonic hedgehog signaling molecule;limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Radial hemimelia"	0	0	38
Rabson-Mendenhall syndrome	donohue syndrome//donohue's syndrome//insr-related severe syndromic insulin resistance//insulin receptor, defect in//leprechaunism//leprechaunism syndrome//leprechaunisms//mendenhall syndrome//pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities//pineal hyperplasia and diabetes mellitus syndrome//pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities//rabson-mendenhall syndrome//rabson mendenhall syndrome//syndrome, donohue//syndrome, mendenhall//syndrome, rabson-mendenhall//insulin receptor, defect 1n	INSR	INSR	https://raresource.nih.gov/literature/disease/0000226	0000226	262190	769	C0271695	D056731		insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rabson-Mendenhall syndrome"	0	0	446
Medullary sponge kidney	cacchi ricci disease//cacchi ricci syndrome//cacchi-ricci syndrome//cacchi-ricci disease//canalicular ectasia, precalyceal//canalicular ectasias, precalyceal//cystic dilatation of renal collecting tubes//disease, cacchi ricci//ectasia, precalyceal canalicular//ectasias, precalyceal canalicular//kidney, sponge//kidneys, sponge//msk//medullary sponge kidneys//precalicial canalicular ectasia//precalyceal canalicular ectasia//precalyceal canalicular ectasias//ricci disease, cacchi//sponge kidney//sponge kidney, medullary//sponge kidneys//sponge kidneys, medullary//syndrome, cacchi-ricci//medullary sponge kidney	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"	0	0	640
D-glyceric aciduria	d-glyceric acidemia//d-glycerate kinase deficiency//d-glycericacidemia//deficiency of glycerate kinase//glycerate kinase deficiency//non ketotic hyperglycinemia syndrome//d-glyceric aciduria	GLYCTK	GLYCTK	https://raresource.nih.gov/literature/disease/0000234	0000234	220120	941	C1291386	C535767		glycerate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D-glyceric aciduria"	0	0	24
Craniodiaphyseal dysplasia, autosomal dominant	cdd//cdd - craniodiaphyseal dysplasia//craniodiaphyseal dysplasia, dominant//dominantly inherited craniodiaphyseal dysplasia//lionitis//schaefer stein oshman syndrome//craniodiaphyseal dysplasia//craniodiaphyseal dysplasia, autosomal dominant//craniodiaphyseal dysplasia, autosomal dominant; cdd//craniodiaphyseal dysplasia; cdd	SOST	SOST	https://raresource.nih.gov/literature/disease/0000249	0000249			C2675746			sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniodiaphyseal dysplasia, autosomal dominant"	0	0	1826
Schwartz-Jampel syndrome	aberfeld syndrome//burton disease//burton skeletal dysplasia//burton syndrome//chondrodystrophic myotonia//catel-hempel syndrome//catel-hempel type//catel-hempel type dysostosis enchondralis metaepiphysaria//dysostosis enchondralis metaepiphysaria//dysostosis enchondralis metaepiphysaria, catel-hempel type//myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities//myotonic chondrodystrophy//myotonic myopathy//myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities//myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies//osteochondromuscular dystrophy//schwartz-jampel syndrome//schwartz-jampel-aberfeld syndrome//sja syndrome//sjs//sjs1//schwartz jampel aberfeld syndrome//schwartz jampel syndrome//schwartz-jampel syndrome 1//schwartz-jampel syndrome type 1//schwartz-jampel syndrome, type 1//schwartz-jampel syndrome, type 1; sjs1//chondrodystrophy//dwarfism//ocular and facial anomalies	HSPG2	HSPG2	https://raresource.nih.gov/literature/disease/0000250	0000250	255800	800	C0036391			heparan sulfate proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schwartz-Jampel syndrome"	0	0	4747
Lowry-Wood syndrome	epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy//epiphyseal dysplasia, microcephaly, and nystagmus//epiphyseal dysplasia - microcephaly - nystagmus//epiphyseal dysplasia, microcephalus, nystagmus syndrome//epiphyseal dysplasia, microcephaly and nystagmus//epiphyseal dysplasia-microcephaly-nystagmus syndrome//lws//lowry wood syndrome//lowry-wood syndrome	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0000264	0000264	226960	1824	C0796021	C537038		RNA, U4atac small nuclear (U12-dependent splicing)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lowry-Wood syndrome"	0	0	34
Keipert syndrome	kpts//keipert syndrome//keipert syndrome; kpts//nasodigitoacoustic syndrome, formerly//nasodigitoacoustic syndrome	GPC4	GPC4	https://raresource.nih.gov/literature/disease/0000267	0000267	301026	2662	C1850627			glypican 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keipert syndrome"	0	0	10
IVIC syndrome	ivic//ivic (instituto venezolano de investigaciones cientificas) syndrome//instituto venezolano de investigaciones cientificas syndrome//oculootoradial syndrome//oors//oculo-oto-radial syndrome//radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia//radial ray defects//and thrombocytopenia//external ophthalmoplegia//hearing impairment	SALL4	SALL4	https://raresource.nih.gov/literature/disease/0000269	0000269	147750	2307	C1327918			spalt like transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IVIC syndrome"	0	0	9681
Nicolaides-Baraitser syndrome	intellectual disability-sparse hair-brachydactyly syndrome//nbs//ncbrs//nicolaides-baraitser syndrome//nicolaides-baraitser syndrome; ncbrs//nicolaides baraitser syndrome//sparse hair and mental retardation//sparse hair and intellectual disability	SMARCA2	SMARCA2	https://raresource.nih.gov/literature/disease/0000270	0000270	601358	3051	C1303073			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nicolaides-Baraitser syndrome"	0	0	630
VACTERL with hydrocephalus	sujansky-leonard syndrome//vacterl association with hydrocephalus, x-linked//vacterl association with hydrocephalus//vacterl association with hydrocephaly//vacterl hydrocephaly//vacterl-h//vacterl-h, x-linked//vater association with hydrocephalus//vater association with macrocephaly and ventriculomegaly//vertebral (v), anal (a), cardiac (c), tracheoesophageal (te), renal (r) and limb (l) anomalies and hydrocephaly//x-linked vacterl-h syndrome	FANCB	FANCB	https://raresource.nih.gov/literature/disease/0000272	0000272	276950	3412				FA complementation group B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=VACTERL with hydrocephalus"	0	0	18
Wrinkly skin syndrome	type of gerodermia osteodysplastica//wss//wss - wrinkly skin syndrome//wrinkled skin syndrome//wrinkly skin syndrome//wrinkly skin syndrome; wss	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"	0	0	145
Hypogonadotropic hypogonadism 12 with or without anosmia	eunuchoidism, familial hypogonadotropic//eunuchoidism//eunuchoidism familial hypogonadotropic//figd//familial hypogonadotropic eunuchoidism//gonadotropin deficiency, familial idiopathic//gonadotropin deficiency familial idiopathic//hh12//familial hypogonadotrophic eunuchoidism//familial hypogonadotropic//familial idiopathic//familial idiopathic gonadotrpin deficiency//gonadotropin deficiency//hypogonadotropic hypogonadism 12 with or without anosmia//hypogonadotropic hypogonadism 12 with or without anosmia; hh12	GNRH1	GNRH1	https://raresource.nih.gov/literature/disease/0000276	0000276			C1856897			gonadotropin releasing hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 12 with or without anosmia"	0	0	282
Lethal osteosclerotic bone dysplasia	combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis//osteosclerotic bone dysplasia, lethal//raine syndrome; rns//rns//raine dysplasia//raine syndrome//lethal osteosclerotic bone dysplasia	FAM20C	FAM20C	https://raresource.nih.gov/literature/disease/0000282	0000282	259775	1832	C1850106			FAM20C golgi associated secretory pathway kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal osteosclerotic bone dysplasia"	0	0	113
Kostmann syndrome	agranulocytosis, infantile//agranulocytosis infantile//infantile agranulocytosis//kostmann disease//scn3//severe congenital neutropenia autosomal recessive 3//severe congenital neutropenia type 3//neutropenia, severe congenital, 3, autosomal recessive//neutropenia, severe congenital, 3, autosomal recessive; scn3	HAX1	HAX1	https://raresource.nih.gov/literature/disease/0000302	0000302	610738	99749				HCLS1 associated protein X-1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kostmann syndrome"	0	0	104
Blau syndrome	acug//arthrocutaneouveal granulomatosis//arthrocutaneouveal granulamotosis//blaus//blau syndrome; blaus//eos//early onset sarcoidosis//early onset sarcoidosis (former)//early-onset sarcoidosis//familial granulomatosis, blau type//familial juvenile systemic granulomatosis//familial granulomatous inflammatory arthritis, dermatitis and uveitis//granulomatosis, familial juvenile systemic//granulomatosis, familial, blau type//granulomatous inflammatory arthritis, dermatitis, and uveitis, familial//granulomatous inflammatory arthritis, dermatitis and uveitis, familial//jabs syndrome//pediatric granulomatous arthritis//sarcoidosis, early-onset//sporadic blau syndrome//synovitis granulomatous with uveitis and cranial neuropathies//synovitis, granulomatous, with uveitis and cranial neuropathies	NOD2	NOD2	https://raresource.nih.gov/literature/disease/0000304	0000304	186580	90340	C1861303			nucleotide binding oligomerization domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blau syndrome"	0	0	1459
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//cap syndrome//camptodactyly arthropathy coxa vara pericarditis syndrome//camptodactyly arthropathy pericarditis syndrome//camptodactyly, arthropathy, coxa-vara, pericarditis syndrome//camptodactyly-arthropathy-coxa vara-pericarditis syndrome//congenital familial hypertrophic synovitis//fibrosing serositis, familial//hypertrophic synovitis, congenital familial//jacobs syndrome//pac syndrome//pericarditis-arthropathy-camptodactyly syndrome//pericarditis arthropathy camptodactyly syndrome//pericarditis, arthropathy, camptodactyly syndrome//camptodactyly-arthropathy-coxa vara-pericarditis syndrome; cacp//camptodactyly-arthropathy-coxa-vara-pericarditis syndrome//familial fibrosing serositis	PRG4	PRG4	https://raresource.nih.gov/literature/disease/0000306	0000306	208250	2848	C1859690			proteoglycan 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"	0	0	61
Jacobsen syndrome	11q deletion disorder//11q deletion syndrome//11q terminal deletion disorder//11q partial monosomy syndrome//11q terminal deletion syndrome//11q- deletion syndrome//11q- deletion syndromes//11q23 deletion disorder//chromosome 11q deletion syndrome//del(11)(q23.3)//del(11)(qter)//deletion disorder, 11q//deletion disorder, 11q23//deletion syndrome, 11q-//distal deletion 11q//distal monosomy 11q//distal partial deletion of long arm of chromosome 11//jbs//jacobsen distal 11q deletion syndrome//jacobsen syndrome//jacobsen thrombocytopenia//jacobsen syndrome; jbs//monosomy 11qter//partial 11q monosomy syndrome//paris trousseau syndrome//paris trousseau thrombocytopenia//paris-trousseau syndrome//paris-trousseau thrombocytopenia//paris-trousseau type thrombocytopenia//paris-trousseau type thrombocytopenias//partial deletion 11q//telomeric deletion 11q//thrombocytopenia, jacobsen//thrombocytopenia, paris trousseau type//thrombocytopenia, paris-trousseau//thrombocytopenia, paris-trousseau type//type thrombocytopenia, paris-trousseau	FLI1	FLI1	https://raresource.nih.gov/literature/disease/0000307	0000307	147791	2308	C0795841	D054868		Fli-1 proto-oncogene, ETS transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jacobsen syndrome"	0	0	229
CHIME syndrome	chime//chime (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome//chime syndrome//chime type//coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual disability - 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//gpibd5//neuroectodermal dysplasia//neuroectodermal dysplasia chime type//neuroectodermal dysplasia, chime type//neuroectodermal syndrome//neuroectodermal syndrome, zunich type//pigl-cdg//zunich neuroectodermal syndrome//zunich kaye syndrome//zunich type//zunich-kaye syndrome//coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome//coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome; chime//coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome//coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; chime	PIGL	PIGL	https://raresource.nih.gov/literature/disease/0000310	0000310	280000	3474	C1848392			phosphatidylinositol glycan anchor biosynthesis class L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHIME syndrome"	0	0	48
Saccharopinuria	alpha-aminoadipic semialdehyde synthase deficiency//deficiency disease, saccharopine dehydrogenase//hyperlysinemia, type ii//hyperlysinemia type ii//saccharopine dehydrogenase deficiency//saccharopine dehydrogenase deficiency disease//hyperlysinemia, type 2//saccharopinuria	AASS	AASS	https://raresource.nih.gov/literature/disease/0000314	0000314	268700	3124	C2936921	C537218		aminoadipate-semialdehyde synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Saccharopinuria"	0	0	18
Nail-patella-like renal disease	focal segmental glomerulosclerosis 10//fsgs10//glomerular basement membrane disease, nail-patella syndrome type//glomerulosclerosis, focal segmental, 10//nail-patella-like renal disease//nplrd//nail patella like renal disease//nail patella-like renal disease//salcedo syndrome	LMX1B	LMX1B	https://raresource.nih.gov/literature/disease/0000321	0000321	256020	2613	C0403548			LIM homeobox transcription factor 1 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nail-patella-like renal disease"	0	0	6
Senior-Loken syndrome	juvenile nephronophthisis with leber amaurosis//loken-senior syndrome//loken senior syndrome//nphp1 senior-loken syndrome//nephronophthisis with retinal dystrophy//renal dysplasia and retinal aplasia//renal-retinal syndrome//renal dysplasia - retinal aplasia//renal dysplasia retinal aplasia//renal dysplasia-retinal aplasia syndrome//senior-loken syndrome//senior-loken syndrome 1; slsn1//slsn//slsn1//senior loken syndrome//senior-loken syndrome 1//senior-loken syndrome caused by mutation in nphp1//senior-loken syndrome type 1	WDR19;TRAF3IP1;IQCB1;NPHP4;CEP164;CEP290;NPHP3;NPHP1;INVS;SDCCAG8	WDR19;TRAF3IP1;IQCB1;NPHP4;CEP164;CEP290;NPHP3;NPHP1;INVS;SDCCAG8	https://raresource.nih.gov/literature/disease/0000322	0000322	606996	3156	C0403553	C537580		WD repeat domain 19;TRAF3 interacting protein 1;IQ motif containing B1;nephrocystin 4;centrosomal protein 164;centrosomal protein 290;nephrocystin 3;nephrocystin 1;inversin;SHH signaling and ciliogenesis regulator SDCCAG8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Senior-Loken syndrome"	0	0	85
Wiedemann-Rautenstrauch syndrome	neonatal progeroid syndrome//neonatal pseudo-hydrocephalic progeroid syndrome//progeroid syndrome, neonatal//progeroid syndrome neonatal//wdrts//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[]=Wiedemann-Rautenstrauch syndrome"	0	0	75
Yunis-Varon syndrome	cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia//cleidocranial dysplasia - micrognathia - absent thumbs//cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia//cleidocranial dysplasia-micrognathia-absent thumbs syndrome//yvs//yunis varon syndrome//yunis-varon syndrome//yunis-varon syndrome; yvs//yunis-varón syndrome	FIG4;VAC14	FIG4;VAC14	https://raresource.nih.gov/literature/disease/0000331	0000331	216340	3472	C1857663	C536719		FIG4 phosphoinositide 5-phosphatase;VAC14 component of PIKFYVE complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Yunis-Varon syndrome"	0	0	4382
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	beare-stevenson syndrome//bstvs//beare stevenson syndrome//beare-stevenson cutis gyrata syndrome//beare-stevenson cutis gyrata syndrome; bstvs//cutis gyrata syndrome of beare and stevenson//cutis gyrata syndrome of beare-stevenson//cutis gyrata - acanthosis nigricans - craniosynostosis//cutis gyrata, acanthosis nigricans, craniosynostosis syndrome//fgfr2-related craniosynostosis//cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0000332	0000332	123790	1555	C1852406			fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"	0	0	45
Lymphedema-distichiasis syndrome	distichiasis-lymphedema syndrome//hereditary lymphedema-distichiasis syndrome//hereditary lymphedema-distichiasis syndrome (subtype)//lphdst//lymphedema with distichiasis//lymphedema-distichiasis syndrome with renal disease and diabetes mellitus//lymphedema distichiasis syndrome//lymphedema-distichiasis syndrome//distichiasis with congenital anomalies of the heart and peripheral vasculature//distichiasis-congenital heart defects-peripheral vascular anomalies 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[]=Lymphedema-distichiasis syndrome"	0	0	67
Dyschromatosis symmetrica hereditaria	acropigmentation of dohi//dsh//dsh1//dyschromatosis symmetrica hereditaria 1//familial reticulate acropigmentation of dohi//rad//reticulate acropigmentation of dohi//symmetric dyschromatosis of the extremities//symmetrical dyschromatosis of extremities//dyschromatosis symmetrica hereditaria//dyschromatosis symmetrica hereditaria; dsh	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[]=Dyschromatosis symmetrica hereditaria"	0	0	845
Autosomal recessive spastic paraplegia type 23	abdallat davis farrage syndrome//abdallat syndrome//dstyk autosomal recessive complex spastic paraplegia//lison syndrome//spastic paraparesis, vitiligo, premature graying, characteristic facies//spastic paraplegia 23, autosomal recessive//spastic paraplegia with pigmentary abnormalities//spg 23//spg23//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 and pigmentary abnormalities//spastic paraplegia vitiligo premature graying and characteristic facies//spastic paraplegia, vitiligo, premature graying and characteristic facies//autosomal recessive complex spastic paraplegia caused by mutation in dstyk//autosomal recessive spastic paraplegia type 23//hereditary spastic paraplegia 23//hereditary spastic paraplegia type 23//spastic paraplegia 23; spg23	DSTYK	DSTYK	https://raresource.nih.gov/literature/disease/0000336	0000336	270750	101003	C0796019			dual serine/threonine and tyrosine protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 23"	0	0	1
Pontocerebellar hypoplasia type 4	congenital pontocerebellar hypoplasia type 4//congenital pontocerebellar hypoplasia type 5//encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia//encephalopathy fatal infantile with olivopontocerebellar hypoplasia//fatal infantile encephalopathy with olivopontocerebellar hypoplasia//fetal onset olivopontocerebellar hypoplasia//olivopontocerebellar hypoplasia, fetal-onset//olivopontocerebellar hypoplasia//olivopontocerebellar hypoplasia fetal-onset//olivopontocerebellar hypoplasia lethal type//pch4//pch4 - pontocerebellar hypoplasia type 4//pch5//pch5 - pontocerebellar hypoplasia type 5//pontocerebellar hypoplasia type 4//pontocerebellar hypoplasia type 5//pontocerebellar hypoplasia, type 5//tsen54-related pontocerebellar hypoplasia//young mckeever squier syndrome//fetal-onset olivopontocerebellar hypoplasia//pontocerebellar hypoplasia, type 4//pontocerebellar hypoplasia, type 4; pch4//pontocerebellar hypoplasia, type 5; pch5	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"	0	0	19
Hoyeraal-Hreidarsson syndrome	cerebellar hypoplasia with pancytopenia//growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia//hhs//hoyeraal hreidarsson syndrome//hoyeraal-hreidarsson syndrome//progressive pancytopenia - immunodeficiency - cerebellar hypoplasia//progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome	TERT;DKC1;RTEL1;TINF2;PARN;ACD	TERT;DKC1;RTEL1;TINF2;PARN;ACD	https://raresource.nih.gov/literature/disease/0000346	0000346	615190	3322	C1846142	C536068		telomerase reverse transcriptase;dyskerin pseudouridine synthase 1;regulator of telomere elongation helicase 1;TERF1 interacting nuclear factor 2;poly(A)-specific ribonuclease;ACD shelterin complex subunit and telomerase recruitment factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hoyeraal-Hreidarsson syndrome"	0	0	731
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease//hdca//hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease//pachd//pancreatic agenesis and congenital heart defects//pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease//pancreatic hypoplasia diabetes heart disease//pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome//yorifuji okuno syndrome//yorifuji-okuno syndrome//congenital heart defects and other congenital anomalies//heart defects, congenital, and other congenital anomalies//heart defects, congenital, and other congenital anomalies; hdca//pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GATA6	GATA6	https://raresource.nih.gov/literature/disease/0000347	0000347	600001	2255	C2931296			GATA binding protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	0	0	3
Cranioectodermal dysplasia	ced//ced1//cranioectodermal dysplasia//ift122 cranioectodermal dysplasia//levin syndrome i//levin syndrome//levin syndrome 1//sensenbrenner syndrome//cranioectodermal dysplasia 1//cranioectodermal dysplasia 1; ced1//cranioectodermal dysplasia caused by mutation in ift122//cranioectodermal dysplasia type 1	IFT43;IFT122;WDR19;IFT52;WDR35	IFT43;IFT122;WDR19;IFT52;WDR35	https://raresource.nih.gov/literature/disease/0000359	0000359	614378	1515	C0432235			intraflagellar transport 43;intraflagellar transport 122;WD repeat domain 19;intraflagellar transport 52;WD repeat domain 35	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranioectodermal dysplasia"	0	0	2172
Abruzzo-Erickson syndrome	abers//abruzzo erickson syndrome//abruzzo-erickson syndrome//abruzzo-erickson syndrome; abers//charge like syndrome x-linked//charge like syndrome, x linked//charge-like syndrome, x-linked//charge-like syndrome//cleft palate - coloboma - deafness//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"	0	0	5
Acatalasemia	acatalasemia, hungarian type//acatalasia//acatalasemia japanese type//acatalasemia swiss type//acatalasia [takahara]//catalase deficiency//catalase deficiencies//deficiencies, catalase//deficiency, catalase//disease, takahara//disease, takahara's//hypocatalasemia//hypocatalasia//japanese type, acatalasemia//swiss type, acatalasemia//takahara disease//takahara's disease//takaharas disease//acatalasemia//deficiency of catalase	CAT	CAT	https://raresource.nih.gov/literature/disease/0000363	0000363	614097	926	C2931868			catalase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acatalasemia"	0	0	201
Aromatase deficiency	congenital estrogen deficiency//increased aromatase activity//maternal virilization due to placental aromatase deficiency//pseudohermaphroditism, female, due to placental aromatase deficiency//aromatase deficiency	CYP19A1	CYP19A1	https://raresource.nih.gov/literature/disease/0000365	0000365	613546	91	C0853662	C537436		cytochrome P450 family 19 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aromatase deficiency"	0	0	158
Xq21 microdeletion syndrome	ayazi syndrome//chm-hypopituitarism syndrome//chromosome xq21 deletion syndrome//choroideremia deafness obesity//choroideremia with deafness and obesity//choroideremia with deafness and obesity syndrome//choroideremia, obesity, and congenital deafness//del(x)(q21)//monosomy xq21//choroideremia, deafness, and intellectual disability//choroideremia, deafness, and mental retardation//choroideremia-deafness-obesity syndrome//choroideremia-hypopituitarism syndrome	POU3F4	POU3F4	https://raresource.nih.gov/literature/disease/0000369	0000369	303110	1435	C1844836			POU class 3 homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xq21 microdeletion syndrome"	0	0	None
Neurofibromatosis-Noonan syndrome	nfns//neurofibromatosis type 1-noonan syndrome	MAP2K2;NF1	MAP2K2;NF1	https://raresource.nih.gov/literature/disease/0000372	0000372	601321	638	C0553586	D009456		mitogen-activated protein kinase kinase 2;neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis-Noonan syndrome"	0	0	56
Cleft lip/palate-ectodermal dysplasia syndrome	autosomal recessive ectodermal dysplasia//bustos simosa pinto cisternas syndrome//cleft lip with or without cleft palate, nonsyndromic, 7//clepd//clped1//cleft lip-palate-ectodermal dysplasia syndrome//cleft lip/palate-syndactyly-pili torti//cleft lip/palate-syndactyly-pili torti syndrome//ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly//ectodermal dysplasia, margarita island type//ectodermal dysplasia, type 4//ed4//ectodermal dysplasia margarita island type//ectodermal dysplasia type 4//margarita type of ectodermal dysplasia//ofc7//orofacial cleft 7//syndactyly-ectodermal dysplasia-cleft/lip palate//zlotogora-ogur syndrome//zlotogora syndrome//zlotogora-zilberman-tenenbaum syndrome//cleft lip/palate-ectodermal dysplasia syndrome//cleft lip/palate-ectodermal dysplasia syndrome; clped1//ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly	NECTIN1	NECTIN1	https://raresource.nih.gov/literature/disease/0000375	0000375	225060	3253	C2931488	C536726		nectin cell adhesion molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleft lip/palate-ectodermal dysplasia syndrome"	0	0	23
Acheiropodia	acheiropodia//acheiropody, brazilian type//achp//acheiropody//agenesis of hands and feet//aleijadinhos (brazilian type)//brazilian type acheiropody//horn-kolb syndrome//toes absent//acheiropody; achp	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"	0	0	23
Knobloch syndrome	kno//kno1//knobloch syndrome 1//knobloch syndrome 1; kno1//knobloch syndrome, type i//knobloch syndrome type 1//knobloch-layer syndrome//myopia retinal detachment encephalocele//passos-bueno syndrome//retinal detachment and occipital encephalocele//retinal detachment - occipital encephalocele//retinal detachment occipital encephalocele//retinal detachment-occipital encephalocele syndrome	COL18A1	COL18A1	https://raresource.nih.gov/literature/disease/0000380	0000380	267750	1571	C1849409	C537209		collagen type XVIII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Knobloch syndrome"	0	0	86
Albers-Schönberg osteopetrosis	albers-schonberg disease, autosomal dominant//albers schonberg disease, autosomal dominant//albers schonberg osteopetrosis//albers-schoenberg disease//albers-schonberg disease//albers-schonberg osteopetrosis//autosomal dominant osteopetrosis type ii//autosomal dominant osteopetrosis type 2//marble bones, autosomal dominant//marble bones//opta2//osteopetrosis, autosomal dominant, type ii//osteosclerosis fragilis generalisata//osteopetroses//osteopetrosis autosomal dominant type 2//osteosclerosis fragilis//autosomal dominant albers-schonberg disease//autosomal dominant osteopetrosis 2//osteopetrosis, autosomal dominant 2//osteopetrosis, autosomal dominant 2; opta2//osteopetrosis, autosomal dominant type 2//osteopetrosis, autosomal dominant, type 2	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[]=Albers-Schönberg osteopetrosis"	0	0	201
ADULT syndrome	acro-dermato-ungual-lacrimal-tooth syndrome//adult (acro-dermato-ungual-lacrimal-tooth) syndrome//acro dermato ungual lacrimal tooth syndrome//acro-dermo-ungual-lacrimal-tooth syndrome (adult syndrome)//pigment anomaly - ectrodactyly - hypodontia//pigment anomaly ectrodactyly hypodontia//pigment anomaly-ectrodactyly-hypodontia syndrome//propping zerres syndrome//tp63-related disorders//acrodermatounguallacrimaltooth 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"	0	0	51
Zimmermann-Laband syndrome	fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly//fibromatosis gingival, hepatosplenomegaly other anomalies//fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly//gingival fibromatosis - hepatosplenomegaly - other anomalies//gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly//gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome//kcnh1 zimmermann-laband syndrome//laband syndrome//laband-zimmermann syndrome//zls//zls1//zimmerman laband syndrome//zimmermann-laband syndrome//zimmermann-laband syndrome 1//zimmermann-laband syndrome 1; zls1//zimmermann-laband syndrome caused by mutation in kcnh1//zimmermann-laband syndrome type 1	KCNN3;KCNH1;ATP6V1B2	KCNN3;KCNH1;ATP6V1B2	https://raresource.nih.gov/literature/disease/0000385	0000385	135500	3473	C0796013			potassium calcium-activated channel subfamily N member 3;potassium voltage-gated channel subfamily H member 1;ATPase H+ transporting V1 subunit B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zimmermann-Laband syndrome"	0	0	65
Tetraamelia-multiple malformations syndrome	tetams//tetams1//tetraamelia syndrome, autosomal recessive//tetraamelia syndrome, autosomal recessive; tetams//tetra-amelia with multiple malformation syndrome//tetraamelia multiple malformations//tetraamelia multiple malformations x-linked//tetraamelia with multiple malformation syndrome//zimmer taub sova syndrome//zimmer phocomelia//tetraamelia syndrome 1; tetams1//tetraamelia-multiple malformations syndrome	WNT3;RSPO2	WNT3;RSPO2	https://raresource.nih.gov/literature/disease/0000386	0000386	273395	3301	C2931218	C536500		Wnt family member 3;R-spondin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetraamelia-multiple malformations syndrome"	0	0	1
Combined immunodeficiency due to ZAP70 deficiency	imd48//selective t-cell defect//stcd//severe combined immunodeficiency due to zap70 deficiency//zap-70 deficiency//zap70-related scid//zap70-related severe combined immunodeficiency//zeta-associated protein 70 deficiency//zeta-associated-protein 70 deficiency//combined immunodeficiency due to zap70 deficiency//immunodeficiency 48//immunodeficiency 48; imd48//selective t-cell defect; stcd	ZAP70	ZAP70	https://raresource.nih.gov/literature/disease/0000387	0000387	269840	911	C2931299			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"	0	0	4285
Endosteal hyperostosis, Worth type	autosomal dominant osteosclerosis//autosomal dominant osteosclerosis, worth type//benign hyperostosis corticalis generalisata//endosteal hyperostosis worth type//endosteal hyperostosis, autosomal dominant//hyperostosis corticalis generalisata, benign form of worth, with torus palatinus//hyperostosis corticalis generalisata congenita//hyperostosis corticalis generalisata, benign form of worth with torus palatinus//osteosclerosis, autosomal dominant//osteosclerosis autosomal dominant worth type//osteosclerosis, autosomal dominant worth type with torus palatinus//osteosclerosis, autosomal dominant, worth type//ostéosclérose autosomique dominante type worth//worth disease//worth syndrome//worth type//worth type autosomal dominant osteosclerosis//endosteal hyperostosis, worth type	LRP5	LRP5	https://raresource.nih.gov/literature/disease/0000390	0000390	144750	2790	C2931308			LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Endosteal hyperostosis, Worth type"	0	0	17
46,XX testicular disorder of sex development	46, xx gonadal sex reversal//46, xx testicular dsd//46, xx testicular disorder of sex development//46, xx testicular disorders of sex development//46,xx gonadal dysgenesis, complete, sry-positive//46,xx sex reversal, sry-positive//46,xx sex reversal 1//46,xx sex reversal 1; srxx1//46,xx sex reversal type 1//46,xx testicular disorder of sex development//46,xx true hermaphroditism, sry-positive//46,xx testicular dsd//46,xx testicular differences of sex development//46,xx testicular disorders of sex development//de la chapelle syndrome//gonadal sex reversal, 46, xx//male with 46, xx karyotype//ovotesticular disorder of sex development//ovotesticular dsd//reversal, xx sex//reversals, xx sex//srxx//srxx1//sex reversal, gonadal, 46, xx//sex reversal, xx//sex reversals, xx//syndrome, xx male//syndromes, xx male//xx//xx male, sry-positive//xx male//xx male syndrome//xx male syndromes//xx sex reversal//xx sex reversals//xx, male syndrome//male syndrome	NR5A1;NR0B1;SOX3;SOX9;SRY	NR5A1;NR0B1;SOX3;SOX9;SRY	https://raresource.nih.gov/literature/disease/0000399	0000399	300833	393	C0432475	D058531		nuclear receptor subfamily 5 group A member 1;nuclear receptor subfamily 0 group B member 1;SRY-box transcription factor 3;SRY-box transcription factor 9;sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX testicular disorder of sex development"	0	0	216
GAPO syndrome	freire-maia syndrome//gapo (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome//gapos//growth retardation, alopecia, pseudoanodontia, and optic atrophy//growth delay - alopecia - pseudoanodontia - optic atrophy//growth delay-alopecia-pseudoanodontia-optic atrophy syndrome//growth retardation, alopecia, pseudoanodontia and optic atrophy//growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome//odontotrichomelic syndrome//tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities//gapo syndrome	ANTXR1	ANTXR1	https://raresource.nih.gov/literature/disease/0000400	0000400	230740	2067	C0406723			ANTXR cell adhesion molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GAPO syndrome"	0	0	64
Foveal hypoplasia-presenile cataract syndrome	foveal hypoplasia 1//foveal hypoplasia 1 with anterior segment anomalies//foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract//fvh1//foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts//foveal hypoplasia, presenile cataract//o donnell pappas syndrome//o'donnell-pappas syndrome//pax6 foveal hypoplasia//foveal hypoplasia 1; fvh1//foveal hypoplasia caused by mutation in pax6//foveal hypoplasia type 1	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0000406	0000406	136520	2253	C2931644			paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Foveal hypoplasia-presenile cataract syndrome"	0	0	425
Short stature due to growth hormone qualitative anomaly	biodefective growth hormone//kowarski syndrome//nanism due to growth hormone qualitative anomaly//pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin//pituitary dwarfism 4//pituitary dwarfism with normal immunoreactive growth hormone//short stature due to growth hormone qualitative anomaly	GH1	GH1	https://raresource.nih.gov/literature/disease/0000408	0000408	262650	629	C1849779			growth hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature due to growth hormone qualitative anomaly"	0	0	4
Sanjad-Sakati syndrome	hrd//hrd syndrome//hrds//hypoparathyroidism with short stature, mental retardation, and seizures//hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay//hypoparathyroidism - intellectual disability - dysmorphism//hypoparathyroidism - short stature - intellectual disability - seizures//hypoparathyroidism with short stature, intellectual disability and seizures//hypoparathyroidism with short stature, mental retardation and seizures//hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay//hypoparathyroidism-intellectual disability-dysmorphism syndrome//hypoparathyroidism-short stature-intellectual disability-seizures syndrome//middle-east syndrome//richadson-kirk syndrome//richardson-kirk syndrome//sanjad-sakati syndrome//sss//hypoparathyroidism with short stature, intellectual disability, and seizures//hypoparathyroidism-retardation-dysmorphism syndrome//hypoparathyroidism-retardation-dysmorphism syndrome; hrd//hypoparathyroidism-retardation-dysmorphism syndrome; hrds	TBCE	TBCE	https://raresource.nih.gov/literature/disease/0000411	0000411	241410	2323	C1855840			tubulin folding cofactor E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sanjad-Sakati syndrome"	0	0	1424
Geroderma osteodysplastica	geroderma osteodysplasticum//geroderma osteodysplasticum; go//gerodermia osteodysplastica//go//go - geroderma osteodysplastica//geroderma osteodysplastica hereditaria//osteodysplastic geroderma//walt disney dwarfism//geroderma osteodysplastica	GORAB;PYCR1	GORAB;PYCR1	https://raresource.nih.gov/literature/disease/0000413	0000413	231070	2078	C0432255	C537799		golgin, RAB6 interacting;pyrroline-5-carboxylate reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geroderma osteodysplastica"	0	0	1694
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-lazarus syndrome//bamforth lazarus syndrome//bamforth syndrome//hypothyroidism, athyroidal, with spiky hair and cleft palate//hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate//hypothyroidism - cleft palate//hypothyroidism and cleft palate syndrome//hypothyroidism cleft palate//hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate//hypothyroidism, thyroidal, 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"	0	0	11
Pentosuria	essential benign pentosuria//essential pentosuria//l-xylulose reductase deficiency//l-xylulosuria//pntsu//xylitol dehydrogenase deficiency//pentosuria//pentosuria; pntsu	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[]=Pentosuria"	0	0	53
Mismatch repair cancer syndrome 1	bmmrd//brain tumor-polyposis syndrome 1//btp1 syndrome//btps1//biallelic mismatch repair deficiency syndrome//brain tumor-polyposis syndrome//childhood cancer syndrome//cmmr-d//cmmr-d (constitutional mismatch repair deficiency) syndrome//cmmr-d syndrome//cmmrd//cmmrds//cns tumors with familial polyposis of the colon//constitutional mismatch repair deficiency syndrome//constitutional mmr deficiency//constitutional mis-match repair deficiency syndrome//glioma-polyposis syndrome//mismatch repair deficiency//mmr deficiency//mmrcs//mmrcs1//malignant tumors of the central nervous system associated with familial polyposis of the colon//mismatch repair cancer syndrome//turcot syndrome//mismatch repair cancer syndrome 1	MLH1	MLH1	https://raresource.nih.gov/literature/disease/0000420	0000420			C0265325			mutL homolog 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mismatch repair cancer syndrome 1"	0	0	1452
Tufted angioma	angioblastoma//angioblastoma of nakagawa//angioma tufted//angioma, tufted//hypertrophic hemangioma//nakagawa angioblastoma//progressive capillary hemangioma//tufted angioma//tufted hemangioma//tufted angioma (disease)//tufted angioma of skin//tufted angioma of the skin//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"	0	0	253
Apparent mineralocorticoid excess	11 beta-hydroxysteroid dehydrogenase type 2 deficiency//11-beta-hydroxysteroid dehydrogenase deficiency type 2//ame//ame - apparent mineralocorticoid excess//ame 1//ame1//apparent mineralocorticoid excess syndrome//cortisol 11-beta-ketoreductase deficiency//mineralocorticoid excess syndrome, apparent//syndrome of apparent mineralocorticoid excess//ulick syndrome//ape//apparent mineralocorticoid excess; ame//apparent mineralocorticoid excess//syndrome of apparent mineralocorticoid excess (disorder)	HSD11B2	HSD11B2	https://raresource.nih.gov/literature/disease/0000433	0000433	218030	320	C2936861	C537422		hydroxysteroid 11-beta dehydrogenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Apparent mineralocorticoid excess"	0	0	868
Hydrocephalus with stenosis of the aqueduct of Sylvius	aqueductal stenosis, x-linked//bickers-adams syndrome//hsas//hsas1//hsas1 hydrocephalus due to congenital stenosis of aqueduct of sylvius 1//hycx//hydrocephalus, x-linked//hydrocephalus, x-linked, with congenital idiopathic intestinal pseudoobstruction//hydrocephalus due to congenital stenosis of aqueduct of sylvius//x-linked hydrocephalus with stenosis of the aqueduct of sylvius//x-linked hsas//x-linked acqueductal stenosis//x-linked hydrocephalus//x-linked hydrocephalus syndrome//x-linked hydrocephalus with stenosis of aqueduct of sylvius//xlas//hydrocephalus due to congenital stenosis of aqueduct of sylvius; hsas//hydrocephalus with stenosis of the aqueduct of sylvius	L1CAM	L1CAM	https://raresource.nih.gov/literature/disease/0000434	0000434	307000	2182	C0265216			L1 cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrocephalus with stenosis of the aqueduct of Sylvius"	0	0	273
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	adhalinopathy, primary//adhalinopathies//adhalinopathies, primary//alpha sarcoglycanopathies//alpha sarcoglycanopathy//alpha-sarcoglycanopathies//alpha-sarcoglycanopathy//alpha-sarcoglycan-related limb-girdle muscular dystrophy r3//alpha-sarcoglycan-related lgmd r3//autosomal recessive limb-girdle muscular dystrophy type 2d//dmda2//duchenne-like autosomal recessive muscular dystrophy, type 2//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, type 2d//limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2d//limb-girdle muscular dystrophy, type 2d//muscular dystrophy, limb-girdle, autosomal recessive 3//muscular dystrophy, limb-girdle, type 2d//muscular dystrophy limb girdle with alpha sarcoglycan deficiency//muscular dystrophy limb-girdle with alpha-sarcoglycan deficiency//muscular dystrophy limb-girdle with alpha-sarcoglycan//primary adhalinopathies//sgca autosomal recessive limb-girdle muscular dystrophy//autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca//muscular dystrophy, limb-girdle, type 2d; lgmd2d//primary adhalinopathy	SGCA	SGCA	https://raresource.nih.gov/literature/disease/0000438	0000438	608099	62	C1842550			sarcoglycan alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"	0	0	79
Vici syndrome	absent corpus callosum cataract immunodeficiency//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//immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum//vicis//vici syndrome; vicis//absent corpus callosum-cataract-immunodeficiency syndrome	EPG5	EPG5	https://raresource.nih.gov/literature/disease/0000448	0000448	242840	1493	C1855772			ectopic P-granules 5 autophagy tethering factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vici syndrome"	0	0	69
Triple A syndrome	2a syndrome//3a syndrome//4a syndrome//aaa//aaa syndrome//aaas//achalasia-alacrima syndrome//acth resistant adrenal insufficiency, achalasia and alacrima//acth-resistant adrenal insufficiency, achalasia and alacrima//addisonian-achalasia syndrome//alacrima-achalasia-addisonianism//alacrima-achalasia-adrenal insufficiency neurologic disorder//allgrove syndrome//achalasia - addisonianism - alacrima syndrome//achalasia addisonianism alacrimia syndrome//achalasia alacrima syndrome//achalasia alacrimia syndrome//achalasia-addisonian syndrome//achalasia-addisonianism-alacrima (triple-a) syndrome//achalasia-addisonianism-alacrima syndrome//achalasia-addisonianism-alacrimia syndrome//addisonian achalasia syndrome//adrenal insufficiency - achalasia - alacrima//adrenal insufficiency-achalasia-alacrima syndrome//alacrimia-achalasia-addisonianism//double a syndrome//glucocorticoid deficiency and achalasia//glucocorticoid deficiency with achalasia//hypoadrenalism with achalasia//infantile achalasia with alacrima//quaternary a syndrome//triple-a syndrome//achalasia-addisonianism-alacrima syndrome; aaas//triple a syndrome	AAAS;TRAPPC11;GMPPA	AAAS;TRAPPC11;GMPPA	https://raresource.nih.gov/literature/disease/0000457	0000457	231550	869	C2931084	C536009		aladin WD repeat nucleoporin;trafficking protein particle complex subunit 11;GDP-mannose pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Triple A syndrome"	0	0	10420
Isovaleric acidemia	acidemia, isovaleric//isovaleric acid coa dehydrogenase deficiency//iva//ivd deficiency//isovaleric acid-coa dehydrogenase deficiency//isovalericacidemia//isovaleryl coa carboxylase deficiency//isovaleryl-coa dehydrogenase deficiency//isovaleryl-coenzyme a dehydrogenase deficiency//isovaleric acidemia//isovaleric acidemia; iva//isovaleric aciduria	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[]=Isovaleric acidemia"	0	0	507
Propionic acidemia	acidemia propionic//acidemia propionics//acidemia, propionic//acidemias, propionic//aciduria, propionic//acidurias, propionic//carboxylase deficiencies, propionyl-coa//carboxylase deficiency, propionyl-coa//deficiencies, pcc//deficiencies, propionyl-coa carboxylase//deficiency, pcc//deficiency, propionyl-coa carboxylase//glycinemia, ketotic//glycinemias, ketotic//hyperglycinemia with ketoacidosis and leukopenia//hyperglycinemia with ketosis and leukopenia//hyperglycinemia, ketotic//hyperglycinemias, ketotic//ketotic hyperglycinemia//ketotic glycinemia//ketotic glycinemias//ketotic hyperglycinemias//pcc - propionyl-coa carboxylase deficiency//pcc deficiency//pcc deficiencies//prop//propionyl-coa carboxylase deficiency//propionic acidemias//propionic aciduria//propionic acidurias//propionic acidemia, type ii//propionic, acidemia//propionicacidemia//propionicacidemias//propionicaciduria//propionicacidurias//propionics, acidemia//propionyl coa carboxylase deficiency//propionyl-coa carboxylase deficiencies//ketotic ii glycinemia//propionic acidemia	PCCB;PCCA	PCCB;PCCA	https://raresource.nih.gov/literature/disease/0000467	0000467	606054	35	C0311298	D056693		propionyl-CoA carboxylase subunit beta;propionyl-CoA carboxylase subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Propionic acidemia"	0	0	746
Acrofacial dysostosis, Rodríguez type	acrofacial dysostosis syndrome of rodriguez//acrofacial dysostosis rodriguez type//rodriguez lethal acrofacial dysostosis syndrome//acrofacial dysostosis, rodríguez type//acrofacial dysostosis, syndrome of rodriguez	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, Rodríguez type"	0	0	2
Acrofacial dysostosis, Weyers type	acrodental dysostosis of weyers//acrofacial dysostosis of weyers//curry-hall syndrome//curry hall syndrome//wad//weyers acrodental dysostosis//weyers acrofacial dysostosis//weyers acrofacial dysostosis; wad//acrofacial dysostosis, weyers type	EVC2;EVC	EVC2;EVC	https://raresource.nih.gov/literature/disease/0000497	0000497	193530	952	C0457013	C536695		EvC ciliary complex subunit 2;EvC ciliary complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrofacial dysostosis, Weyers type"	0	0	602
Nager syndrome	afd//afd, nager type//afd1//acrofacial dysostosis 1, nager type//acrofacial dysostosis, nager type//mandibulofacial dysostosis, treacher collins type, with limb anomalies//mandibulofacial dysostosis with preaxial limb anomalies//nafd//nager acrofacial dysostosis//nager syndrome//nager acrofacial dysostosis syndrome//preaxial mandibulofacial dysostosis//preaxial acrodysostosis//preaxial acrofacial dysostosis//split hand deformity-mandibulofacial dysostosis//acrofacial dysostosis 1, nager type; afd1//preaxial manibulofacial 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"	0	0	437
Spondylometaphyseal dysplasia, Schmidt type	algerian type//japanese type spondylometaphyseal dysplasia//spondylometaphyseal dysplasia with severe genu valgum//spondylometaphyseal dysplasia, schmidt type//schmid metaphyseal dysostosis//spondylometaphyseal dysplasia//spondylometaphyseal dysplasia algerian type//spondylometaphyseal dysplasia schmidt type//spondylometaphyseal dysplasia, algerian type	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0000504	0000504	184253	93316	C1866688			collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia, Schmidt type"	0	0	110
Acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dwarfism//amdh//acromesomelic dysplasia hunter thompson type//acromesomelic dysplasia, hunter-thompson type//acromesomelic dysplasia, hunter-thompson type; amdh	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, Hunter-Thompson type"	0	0	16
Acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia 1//amdm//acromesomelic dwarfism maroteux type//acromesomelic dysplasia maroteaux type//st. helena dysplasia//acromesomelic dysplasia, maroteaux type//acromesomelic dysplasia, maroteaux type; amdm	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, Maroteaux type"	0	0	33
Hajdu-Cheney syndrome	acroosteolysis with osteoporosis and changes in skull and mandible//arthrodentoosteodysplasia//acrodentoosteodysplasia//acroosteolysis dominant type//arthro-dento-osteo dysplasia//arthro-dento-ostéodysplasie//arthrodentoosteodysplasias//cheney syndrome//hjcys//hajdu cheney syndrome//hajdu-cheney syndrome; hjcys//multicentric osteolyses//multicentric osteolysis//osteolyses, multicentric//osteolysis, multicentric//serpentine fibula-polycystic kidney syndrome//sfpks//serpentine fibula syndrome//serpentine fibula-polycystic kidneys syndrome//serpentine fibula polycystic kidney syndrome	NOTCH2	NOTCH2	https://raresource.nih.gov/literature/disease/0000508	0000508	102400	955	C2930971	D031845		notch receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hajdu-Cheney syndrome"	0	0	206
Sweet syndrome	afnd//acute febrile neutrophilic dermatosis//dermatosis, neutrophilic, febrile, acute//disease, gomm button//disease, gomm-button//febrile neutrophilic dermatosis//gomm-button disease//gomm button disease//neutrophilic dermatosis, acute febrile//paand//pyrin-associated autoinflammatory disease//ss//sweet syndrome//sweet disease//sweet's syndrome//sweets syndrome//syndrome, sweet//syndrome, sweet's	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[]=Sweet syndrome"	0	0	10473
Acute myeloblastic leukemia without maturation	aml m1//aml without maturation//acute myeloblastic leukemia m1//acute myeloblastic leukemia type 1//fab m1//m1 acute granulocytic leukemia//m1 acute granulocytic leukemia without maturation//m1 acute myeloblastic leukemia//m1 acute myeloblastic leukemia without maturation//m1 acute myelocytic leukemia//m1 acute myelocytic leukemia without maturation//m1 acute myelogenous leukemia//m1 acute myelogenous leukemia without maturation//m1 acute myeloid leukemia//m1 acute myeloid leukemia without maturation//acute m1 myeloid leukemia//acute granulocytic leukemia without maturation//acute myeloblastic leukemia without maturation//acute myelocytic leukemia without maturation//acute myelogenous leukemia without maturation//acute myeloid leukemia without maturation//acute myeloid leukemia without maturation (fab m1)	FLT3;NPM1	FLT3;NPM1	https://raresource.nih.gov/literature/disease/0000526	0000526		98833	C0026998			fms related receptor tyrosine kinase 3;nucleophosmin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloblastic leukemia without maturation"	0	0	24
Acute myeloblastic leukemia with maturation	aml m2//aml with maturation//acute myeloblastic leukemia m2//acute myeloblastic leukemia type 2//fab m2//lam m2//m2 acute granulocytic leukemia//m2 acute myeloblastic leukemia//m2 acute myeloblastic leukemia with maturation//m2 acute myelocytic leukemia with maturation//m2 acute myelogenous leukemia//m2 acute myelogenous leukemia with maturation//m2 acute myeloid leukemia//m2 acute myeloid leukemia with maturation//acute m2 myeloid leukemia//acute myeloblastic leukemia with maturation//acute myelocytic leukemia with maturation//acute myelogenous leukemia with maturation//acute myeloid leukemia (aml-m2)//acute myeloid leukemia with maturation	NPM1;FLT3;KIT	NPM1;FLT3;KIT	https://raresource.nih.gov/literature/disease/0000527	0000527		98834	C1879321			nucleophosmin 1;fms related receptor tyrosine kinase 3;KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloblastic leukemia with maturation"	0	0	84
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	FLT3;CBFB;MYH11;KIT	FLT3;CBFB;MYH11;KIT	https://raresource.nih.gov/literature/disease/0000536	0000536		98829				fms related receptor tyrosine kinase 3;core-binding factor subunit beta;myosin heavy chain 11;KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"	0	0	58655
Acute promyelocytic leukemia	aml m3//aml me with t(15;17) and variants//aml with t(15;17)(q22;q12)//aml with t(15;17)(q22;q12);(pml/raralpha) and variants//anll, m3//apl//apl - acute promyelocytic leukemia//apml//apml - acute promyelocytic leukemia//acute promyelocytic leukemia//acute promyelocytic leukemias//acute myeloblastic leukemia 3//acute myeloblastic leukemia type 3//acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants//acute myeloid leukemia, pml/rar-alpha//acute myeloid leukemia, t(15;17)(q22;q11-12)//acute promyelocytic leukaemia//acute promyelocytic leukemia (clinical)//acute promyelocytic leukemia, fab m3//acute promyelocytic leukemia, pml/rar-alpha//acute promyelocytic leukemia, t(15;17)(q22;q11-12)//fab m3//leukemia, acute promyelocytic//leukemia, myeloid, acute, m3//leukemia, progranulocytic//leukemia, promyelocytic, acute//m3 - acute promyelocytic leukemia//m3 anll//myeloid leukemia, acute, m3//progranulocytic leukemia//promyelocytic leukemia, acute//acute myeloblastic leukaemia type 3//acute myeloid leukaemia m3//acute myeloid leukemia m3//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; apl//promyelocytic leukemia	PML;FIP1L1;RARA;PRKAR1A;STAT3;STAT5B;BCOR;IRF2BP2;NABP1;TBL1XR1;NPM1;ZBTB16;NUMA1	PML;FIP1L1;RARA;PRKAR1A;STAT3;STAT5B;BCOR;IRF2BP2;NABP1;TBL1XR1;NPM1;ZBTB16;NUMA1	https://raresource.nih.gov/literature/disease/0000538	0000538	612376	520	C0023487	D015473		PML nuclear body scaffold;factor interacting with PAPOLA and CPSF1;retinoic acid receptor alpha;protein kinase cAMP-dependent type I regulatory subunit alpha;signal transducer and activator of transcription 3;signal transducer and activator of transcription 5B;BCL6 corepressor;interferon regulatory factor 2 binding protein 2;nucleic acid binding protein 1;TBL1X receptor 1;nucleophosmin 1;zinc finger and BTB domain containing 16;nuclear mitotic apparatus protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute promyelocytic leukemia"	0	0	12544
Medium chain acyl-CoA dehydrogenase deficiency	acadm deficiency//acadmd//acyl-coa dehydrogenase medium chain deficiency of//acyl-coa dehydrogenase, medium chain, deficiency of//acyl-coa dehydrogenase, medium-chain, deficiency of//carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency//deficiency of medium-chain acyl-coa dehydrogenase//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//medium chain acyl-coenzyme a dehydrogenase deficiency//medium-chain acyl-coenzyme a dehydrogenase deficiency//medium-chain acyl-coa dehydrogenase deficiency//acyl-coa dehydrogenase, medium-chain deficiency//acyl-coa dehydrogenase, medium-chain, deficiency of; acadmd	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-CoA dehydrogenase deficiency"	0	0	688
Adenine phosphoribosyltransferase deficiency	2,8-dihydroxyadenine urolithiasis//2,8-dihydroxyadeninuria//2,8-dihydroxyadeninuria disease//aprt deficiency//aprtd//adenine phosphoribosyl transferase deficiency//dha crystalline nephropathy//deficiency of amp pyrophorylase//deficiency of adenine phosphoribosyltransferase//dihydroxyadeninuria//nephrolithiasis, dha//urolithiasis, 2,8-dihydroxyadenine//urolithiasis, dha//adenine phosphoribosyltransferase deficiency//adenine phosphoribosyltransferase deficiency; aprtd	APRT	APRT	https://raresource.nih.gov/literature/disease/0000546	0000546	614723	976	C0268120			adenine phosphoribosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenine phosphoribosyltransferase deficiency"	0	0	2051
Adenosine monophosphate deaminase deficiency	adenosine monophosphate deaminase-1 deficiency, myopathy due to//amp deaminase 1 deficiency//amp deaminase deficiency//ampd1 deficiency//adenosine monophosphate deaminase 1 deficiency//mmdd//myoadenylate deaminase deficiency, myopathy due to//myoadenylate deaminase deficiency//myopathy due to myoadenylate deaminase deficiency//adenosine monophosphate deaminase deficiency//myopathy due to myoadenylate deaminase deficiency; mmdd	AMPD3;AMPD1	AMPD3;AMPD1	https://raresource.nih.gov/literature/disease/0000547	0000547	615511	45	C2931781	C538234		adenosine monophosphate deaminase 3;adenosine monophosphate deaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adenosine monophosphate deaminase deficiency"	0	0	146
Adenylosuccinate lyase deficiency	adenylosuccinate lyase deficiency//adsl deficiency//adsld//asase - adenylosuccinate lyase deficiency//adenylosuccinase deficiency//adenylosuccinate deficiency//adenylosuccinate lyase deficiency type 1//adenylosuccinate lyase deficiency type 2//adenylosuccinate lyase deficiency type 3//adenylosuccinate lyase deficiency type 4//deficiency of adenylosuccinate lyase//succinyladenosinuria//succinylpurinemic autism//adenylosuccinase deficiency; adsld//adenylosuccinase lyase deficiency//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	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"	0	0	116
X-linked adrenal hypoplasia congenita	addison disease, x-linked//adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism//ahc//ahc with hhg//ahc with isolated gonadotropin deficiency//ahch//ahx//addison disease, x linked//adrenal hypoplasia, x-linked//adrenal hypoplasia congenita//cytomegalic adrenocortical hypoplasia//congenital adrenal hypoplasias//congenital adrenal hypoplasia//congenital adrenal hypoplasia, x-linked//cytomegalic adrenocortical hypoplasias//familial x linked addison disease//familial x-linked addison disease//hypoplasia, congenital adrenal//isolated x-linked adrenal hypoplasia congenita//x linked adrenal hypoplasia//x linked congenital adrenal hypoplasia//x-linked addison disease//x-linked adrenal hypoplasia congenita//x-linked ahc//x-linked adrenal hypoplasia//x-linked congenital adrenal hypoplasia//adrenal hypoplasia, congenital//adrenal hypoplasia, congenital, with precocious puberty//adrenal hypoplasia, congenital; ahc//adrenal insufficiency, progressive, and hypogonadotropic hypogonadism//cytomegalic congenital adrenal hypoplasia//mineralocorticoid deficiency, isolated	NR0B1	NR0B1	https://raresource.nih.gov/literature/disease/0000555	0000555	202155	95702	C0220766			nuclear receptor subfamily 0 group B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked adrenal hypoplasia congenita"	0	0	928
Adrenocortical carcinoma	acc//adrenal cortex cancer//adrenal cortical carcinoma//adrenal cortical carcinomas//adrenal carcinoma//adrenal cortex adenocarcinoma//adrenal cortex carcinoma//adrenal cortical adenocarcinoma//adrenal cortical tumors//adrenal gland carinoma//adrenocortical carcinomas//carcinoma, adrenal cortical//carcinoma, adrenocortical//carcinomas, adrenal cortical//carcinomas, adrenocortical//adenocarcinoma, adrenocortical, malignant//adrenal cortical carcinoma (morphologic abnormality)//adrenocortical cancer//adrenocortical carcinoma//adrenocortical carcinoma (disease)//adrenocortical carcinoma, nos//cancer of the adrenal cortex//carcinoma of adrenal cortex//carcinoma of the adrenal cortex//carcinoma, adrenocortical, malignant//cortical cell carcinoma//malignant adrenocortical tumor//malignant neoplasm of adrenal cortex//malignant tumour of adrenal cortex//neoplasm of adrenal cortex	TP53	TP53	https://raresource.nih.gov/literature/disease/0000558	0000558	202300	1501	C0206686	D018268		tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adrenocortical carcinoma"	0	0	7844
Neonatal adrenoleukodystrophy	acidemia, hyperpipecolic//acidemias, hyperpipecolic//adrenoleukodystrophies, neonatal//adrenoleukodystrophy autosomal neonatal form//adrenoleukodystrophy, autosomal neonatal form//adrenoleukodystrophy, autosomal, neonatal form//adrenoleukodystrophy, neonatal//dysfunction, general peroxisomal//dysfunction, multiple peroxisomal//dysfunction, single peroxisomal//dysfunctions, general peroxisomal//dysfunctions, multiple peroxisomal//dysfunctions, single peroxisomal//general peroxisomal dysfunction//general peroxisomal dysfunctions//hyperpipecolatemia//hyperpipecolic acidemia//hyperpipecolic acidemias//intermediate pbd-zsd//intermediate peroxisome biogenesis disorder-zellweger spectrum disorder//multiple peroxisomal dysfunction//multiple peroxisomal dysfunctions//nald//neonatal adrenoleukodystrophies//neonatal adrenoleukodystrophy//neonatal adrenoleucodystrophy//peroxisomal disorder//peroxisomal disorders//peroxisomal dysfunction, general//peroxisomal dysfunction, multiple//peroxisomal dysfunction, single//peroxisomal dysfunctions, general//peroxisomal dysfunctions, multiple//peroxisomal dysfunctions, single//single peroxisomal dysfunction//single peroxisomal dysfunctions//disorder of peroxisomal function//peroxisomal disease//peroxisomal function disorder	PEX13;PEX12;PEX16;PEX3;PEX19;PEX6;PEX2;PEX5;PEX26;PEX14;PEX11B;PEX1;PEX10	PEX13;PEX12;PEX16;PEX3;PEX19;PEX6;PEX2;PEX5;PEX26;PEX14;PEX11B;PEX1;PEX10	https://raresource.nih.gov/literature/disease/0000559	0000559	617370	44	C0282525	D018901		peroxisomal biogenesis factor 13;peroxisomal biogenesis factor 12;peroxisomal biogenesis factor 16;peroxisomal biogenesis factor 3;peroxisomal biogenesis factor 19;peroxisomal biogenesis factor 6;peroxisomal biogenesis factor 2;peroxisomal biogenesis factor 5;peroxisomal biogenesis factor 26;peroxisomal biogenesis factor 14;peroxisomal biogenesis factor 11 beta;peroxisomal biogenesis factor 1;peroxisomal biogenesis factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal adrenoleukodystrophy"	0	0	937
Aicardi-Goutières syndrome	ags//aicardi goutieres syndrome//aicardi-goutieres syndrome 1//aicardi-goutieres syndrome 2//aicardi-goutieres syndrome//cree encephalitis//encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis//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//familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis//pseudo-torch syndrome//pseudotoxoplasmosis syndrome	ADAR;TREX1;SAMHD1;RNASEH2A;IFIH1;RNASEH2C;RNASEH2B	ADAR;TREX1;SAMHD1;RNASEH2A;IFIH1;RNASEH2C;RNASEH2B	https://raresource.nih.gov/literature/disease/0000575	0000575	612952	51	C0393591	C535607		adenosine deaminase RNA specific;three prime repair exonuclease 1;SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1;ribonuclease H2 subunit A;interferon induced with helicase C domain 1;ribonuclease H2 subunit C;ribonuclease H2 subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aicardi-Goutières syndrome"	0	0	1200
Ocular albinism with late-onset sensorineural deafness	albinism ocular late onset sensorineural deafness//albinism, ocular, with late-onset sensorineural deafness//albinism, ocular, with sensorineural deafness//deafness and ocular albinism//oasd//ocular albinism with sensorineural deafness//ocular albinism with late-onset sensorineural hearing loss//waardenburg syndrome, type ii, with ocular albinism, autosomal recessive//ws2-oa//albinism, ocular, with late-onset sensorineural deafness; oasd//ocular albinism with late-onset sensorineural deafness	AP3D1	AP3D1	https://raresource.nih.gov/literature/disease/0000592	0000592	300650	1000	C1845069	C537043		adaptor related protein complex 3 subunit delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ocular albinism with late-onset sensorineural deafness"	0	0	5
Oculocutaneous albinism type 1B	albinism, oculocutaneous, type i, temperature-sensitive//albinism, oculocutaneous, type ib//albinism, yellow mutant type//amish type//oca1-ts//oca1b//oculocutaneous albinism, type ib//oculocutaneous albinism//oculocutaneous albinism type amish//oculocutaneous albinism, amish type//platinum oculocutaneous albinism//yellow albinism//yellow mutant albinism//yellow oculocutaneous albinism//albinism, oculocutaneous, type 1b//albinism, oculocutaneous, type ib; oca1b//oculocutaneous albinism type 1b//oculocutaneous albinism type ib//oculocutaneous albinism, type 1b	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"	0	0	940
Glycogen storage disease due to aldolase A deficiency	aldoa deficiency//aldolase a deficiency//aldolase deficiency, red cell//aldolase deficiency red cell//fructose 1,6-biphosphate aldolase a deficiency//glycogen storage disease xii//gsd 12//gsd xii//gsd due to aldolase a deficiency//gsd type 12//gsd type xii//gsd12//glycogen storage disease 12//glycogen storage disease type 12//glycogen storage disease type xii//glycogenosis due to aldolase a deficiency//glycogenosis type 12//glycogenosis type xii//hnsha due to aldolase a deficiency//hereditary nonspherocytic hemolytic anemia (hnsha) due to aldolase a deficiency//hereditary nonspherocytic hemolytic anemia due to aldolase a deficiency//red cell aldolase deficiency//glycogen storage disease xii; gsd12//glycogen storage disease due to aldolase a deficiency	ALDOA	ALDOA	https://raresource.nih.gov/literature/disease/0000600	0000600	611881	57	C0272066			aldolase, fructose-bisphosphate A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to aldolase A deficiency"	0	0	14
Autosomal dominant palmoplantar keratoderma and congenital alopecia	alopecia congenita with hyperkeratosis of the palms and soles//autosomal dominant palmoplantar hyperkeratosis and congenital alopecia//keratoderma-hypotrichosis-leukonychia totalis syndrome//ppk-ca//ppk-ca, stevanovic type//ppkca, stevanovic type//ppkca1//palmoplantar keratoderma and congenital alopecia//palmoplantar keratoderma and congenital alopecia, stevanovic type//stevanovic type//autosomal dominant palmoplantar keratoderma and congenital alopecia//palmoplantar keratoderma and congenital alopecia 1//palmoplantar keratoderma and congenital alopecia 1; ppkca1//palmoplantar keratoderma and congenital alopecia type 1	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0000604	0000604	104100	1010	C1863093			gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant palmoplantar keratoderma and congenital alopecia"	0	0	4118
Alopecia-intellectual disability syndrome	amr syndrome//amr syndrome 1//apmr//apmr1//alopecia intellectual disbility syndrome 1//alopecia mental retardation syndrome 1//alopecia with severe intellectual deficit//perniola-krajewska-carnevale syndrome//alopecia - intellectual disability syndrome//alopecia-intellectual disability syndrome//alopecia-intellectual disability syndrome 1//alopecia-intellectual disability syndrome 1; apmr1//alopecia-mental retardation syndrome//alopecia-mental retardation syndrome 1//alopecia-mental retardation syndrome 1; apmr1	LSS;AHSG;ITGB6	LSS;AHSG;ITGB6	https://raresource.nih.gov/literature/disease/0000612	0000612	618840	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"	0	0	11
Alopecia universalis	alopecia universalis congenita//alunc//alunc alopecia universalis congenitalis//atrichia, generalized//au//alopecia areata universalis//alopecia, complete//generalized atrichia//universal alopecia//universal alopecia areata//alopecia universalis//alopecia universalis congenita; alunc	HR	HR	https://raresource.nih.gov/literature/disease/0000614	0000614	610753	701	C0263505	C537055		HR lysine demethylase and nuclear receptor corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alopecia universalis"	0	0	947
Oxoglutaric aciduria	2 alpha ketoglutarate dehydrogenase deficiency//2-ketoglutarate dehydrogenase deficiency//alpha-kgd deficiency//alpha kgd deficiency//alpha-ketoglutarate dehydrogenase deficiency//deficiency of alpha-ketoglutarate dehydrogenase//oxoglutaric aciduria//oxoglutaricaciduria	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[]=Oxoglutaric aciduria"	0	0	7
Autosomal dominant Alport syndrome	ats3//alport syndrome, autosomal dominant//alport syndrome autosomal dominant//alport syndrome dominant type//renal failure and sensorineural hearing loss//renal failure, and sensorineural hearing loss//autosomal dominant alport syndrome	COL4A4;COL4A3	COL4A4;COL4A3	https://raresource.nih.gov/literature/disease/0000624	0000624	104200	88918	C1567743	C536586		collagen type IV alpha 4 chain;collagen type IV alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Alport syndrome"	0	0	43
Autosomal recessive Alport syndrome	ats2//alport syndrome, autosomal recessive//alport syndrome autosomal recessive//alport syndrome recessive type//nephropathy and deafness//autosomal recessive alport syndrome	COL4A3;COL4A4	COL4A3;COL4A4	https://raresource.nih.gov/literature/disease/0000625	0000625	203780	88919	C1567744	C536587		collagen type IV alpha 3 chain;collagen type IV alpha 4 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Alport syndrome"	0	0	78
Leber congenital amaurosis	amaurosis congenita of leber i//abiotrophies, leber//abiotrophy, leber//amauroses, leber congenital//amauroses, leber's//amaurosis congenita of leber//amaurosis congenita of leber, type 1//amaurosis, leber congenital//amaurosis, leber's//blindness, congenital retinal//blindnesses, congenital retinal//crb//crb - congenital retinal blindness//congenital amauroses, leber//congenital amaurosis of retinal origin//congenital amaurosis, leber//congenital retinal blindness//congenital retinal blindnesses//congenital absence of the rods and cones//dysgenesis neuroepithelialis retinae//gucy2d leber congenital amaurosis//hereditary epithelial dysplasia of retina//hereditary retinal aplasia//heredoretinopathia congenitalis//lca//lca1//leber abiotrophies//leber abiotrophy//leber amaurosis//leber congenital amauroses//leber congenital tapetoretinal degeneration//leber congenital amaurosis 1//leber congenital amaurosis 1; lca1//leber congenital amaurosis caused by mutation in gucy2d//leber congenital amaurosis type 1//leber's amauroses//leber's amaurosis//leber's congenital amaurosis//leber's congenital tapetoretinal degeneration//leber's congenital tapetoretinal dysplasia//leber's disease//lebers amaurosis//retinal blindness, congenital//retinal blindnesses, congenital//amaurosis congenita of leber 1	GDF6;GUCY2D;IMPDH1;KCNJ13;LRAT;RPE65;IQCB1;PCYT1A;TULP1;RPGRIP1;NMNAT1;RD3;RDH12;USP45;SPATA7;CRB1;CRX;AIPL1;LCA5;CEP290;IFT140	GDF6;GUCY2D;IMPDH1;KCNJ13;LRAT;RPE65;IQCB1;PCYT1A;TULP1;RPGRIP1;NMNAT1;RD3;RDH12;USP45;SPATA7;CRB1;CRX;AIPL1;LCA5;CEP290;IFT140	https://raresource.nih.gov/literature/disease/0000634	0000634	613826	65	C0339527	D057130		growth differentiation factor 6;guanylate cyclase 2D, retinal;inosine monophosphate dehydrogenase 1;potassium inwardly rectifying channel subfamily J member 13;lecithin retinol acyltransferase;retinoid isomerohydrolase RPE65;IQ motif containing B1;phosphate cytidylyltransferase 1A, choline;TUB like protein 1;RPGR interacting protein 1;nicotinamide nucleotide adenylyltransferase 1;RD3 regulator of GUCY2D;retinol dehydrogenase 12;ubiquitin specific peptidase 45;spermatogenesis associated 7;crumbs cell polarity complex component 1;cone-rod homeobox;aryl hydrocarbon receptor interacting protein like 1;lebercilin LCA5;centrosomal protein 290;intraflagellar transport 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber congenital amaurosis"	0	0	1818
Congenital amegakaryocytic thrombocytopenia	amegakaryocytic thrombocytopenia, congenital//camt//thrombocytopenia congenital amegakaryocytic//amegakaryocytic thrombocytopenia, congenital; camt//congenital amegakaryocytic thrombocytopenia//congenital amegakaryocytic thrombocytopenic purpura	MPL;THPO	MPL;THPO	https://raresource.nih.gov/literature/disease/0000640	0000640	604498	3319	C1327915	C535982		MPL proto-oncogene, thrombopoietin receptor;thrombopoietin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital amegakaryocytic thrombocytopenia"	0	0	390
Hypoplastic amelogenesis imperfecta	ai1a//amelogenesis imperfecta, hypoplastic type ia//amelogenesis imperfecta, hypoplastic type//amelogenesis imperfecta local hypoplastic//amelogenesis imperfecta type 1//hypoplastic type amelogenesis imperfecta//lamb3 amelogenesis imperfecta//local hypoplastic amelogenesis imperfecta//local, hypoplastic type of amelogenesis imperfecta//microdontia, generalized//amelogenesis imperfecta caused by mutation in lamb3//amelogenesis imperfecta hypoplastic type ia//amelogenesis imperfecta type ia//amelogenesis imperfecta, hypoplastic type 1a//amelogenesis imperfecta, type 1a//amelogenesis imperfecta, type ia//amelogenesis imperfecta, type ia; ai1a	ACP4;RELT;ENAM;ITGB6;AMBN;LAMB3	ACP4;RELT;ENAM;ITGB6;AMBN;LAMB3	https://raresource.nih.gov/literature/disease/0000645	0000645	617297	100031	C0399367			acid phosphatase 4;RELT TNF receptor;enamelin;integrin subunit beta 6;ameloblastin;laminin subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoplastic amelogenesis imperfecta"	0	0	68
Enamel-renal syndrome	ai1g//aigfs//amelogenesis imperfecta and gingival fibromatosis syndrome//amelogenesis imperfecta, hypoplastic, and nephrocalcinosis//amelogenesis imperfecta, hypoplastic, with nephrocalcinosis//absent enamel, nephrocalcinosis and apparently normal calcium metabolism//amelogenesis imperfecta, type ig//amelogenesis imperfecta and nephrocalcinosis//amelogenesis imperfecta hypoplastic type, ig//amelogenesis imperfecta nephrocalcinosis//amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration//amelogenesis imperfecta-gingival hyperplasia syndrome//amelogenesis imperfecta-nephrocalcinosis syndrome//enamel-renal syndrome//enamel-renal-gingival syndrome//ers//enamel renal syndrome//fam20a amelogenesis imperfecta//generalized enamel hypoplasia and renal dysfunction//mcgibbon lubinsky syndrome//amelogenesis imperfecta caused by mutation in fam20a//amelogenesis imperfecta hypoplastic with nephrocalcinosis//amelogenesis imperfecta type 1g//amelogenesis imperfecta type ig//amelogenesis imperfecta, type 1g//amelogenesis imperfecta, type ig; ai1g	FAM20A	FAM20A	https://raresource.nih.gov/literature/disease/0000646	0000646	204690	1031	C0403549	C538241		FAM20A golgi associated secretory pathway pseudokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Enamel-renal syndrome"	0	0	157
X-linked sideroblastic anemia and spinocerebellar ataxia	asat//anemia sideroblastic and spinocerebellar ataxia//anemia, sex-linked hypochromic siderobla//anemia, sideroblastic, and spinocerebellar ataxia//anemia, sideroblastic spinocerebellar ataxia//pagon bird detter syndrome//pagon-bird-detter syndrome//sideroblastic anemia with spinocerebellar ataxia//x-linked sideroblastic anemia and ataxia//x-linked sideroblastic anaemia and ataxia//x-linked sideroblastic anaemia with ataxia//x-linked sideroblastic anemia with ataxia//x-linked sideroblastic anemia with spinocerebellar ataxia//xlsa-a//anemia, sideroblastic, and spinocerebellar ataxia; asat	ABCB7	ABCB7	https://raresource.nih.gov/literature/disease/0000668	0000668	301310	2802	C1845028			ATP binding cassette subfamily B member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked sideroblastic anemia and spinocerebellar ataxia"	0	0	1088
Angel-shaped phalango-epiphyseal dysplasia	angel-shaped phalangoepiphyseal dysplasia//angel-shaped phalangoepiphyseal dysplasia; asped//asped//angel shaped phalangoepiphyseal dysplasia//angel-shaped phalango-epiphyseal dysplasia	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0000671	0000671	105835	63442	C1739384			growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angel-shaped phalango-epiphyseal dysplasia"	0	0	6
Ankyloblepharon filiforme adnatum-cleft palate syndrome	afa//ankyloblepharon filiforme adnatum and cleft palate//ankyloblepharon filiforme adnatum//ankyloblepharon filiforme adnatum cleft palate//ankyloblepharon filiforme congenitum//congenital filiform fusion of the eyelids with cleft palate and-or cleft lip//congenital filiform fusion of the eyelids with cleft palate and/or cleft lip//ankyloblepharon filiforme adnatum and cleft palate; afa//ankyloblepharon filiforme adnatum-cleft palate syndrome	TP63	TP63	https://raresource.nih.gov/literature/disease/0000696	0000696	106250	1072	C1302999	C536373		tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ankyloblepharon filiforme adnatum-cleft palate syndrome"	0	0	102
Matthew-Wood syndrome	anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm//anophthalmia/microphthalmia and pulmonary hypoplasia//anophthalmia - pulmonary hypoplasia//anophthalmia with pulmonary hypoplasia//anophthalmia with pulmonary hypoplasia syndrome//anophthalmia-microphthalmia and pulmonary hypoplasia//anophthalmia-pulmonary hypoplasia syndrome//clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations//matthew-wood syndrome//mcopcb8//mcops9//microphthalmia, isolated, with coloboma 8//matthew wood syndrome//microphthalmia syndromic 9//microphthalmia, syndromic 9//pdac//pdac syndrome//pmd//pulmonary agenesis, microphthalmia, and diaphragmatic defect//pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect//pulmonary agenesis microphthalmi and diaphragmatic defect//pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome//spear syndrome//syndromic microphthalmia type 9//microphthalmia syndromic type 9//microphthalmia, syndromic 9; mcops9//microphthalmia, syndromic type 9	RARB;STRA6	RARB;STRA6	https://raresource.nih.gov/literature/disease/0000713	0000713	615524	2470	C1832661			retinoic acid receptor beta;signaling receptor and transporter of retinol STRA6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Matthew-Wood syndrome"	0	0	12645
Microphthalmia with limb anomalies	anophthalmia-syndactyly//anophthalmia waardenburg syndrome//anophthalmia-syndactyly syndrome//anophthalmos with limb anomalies//anophthalmos-syndactyly//mla//microphthalmia with limb anomalies//oas//ophthalmoacromelic syndrome//waardenburg anophthalmia syndrome//microphthalmia with limb anomalies; mla	SMOC1	SMOC1	https://raresource.nih.gov/literature/disease/0000722	0000722	206920	1106	C0599973			SPARC related modular calcium binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia with limb anomalies"	0	0	499
Congenital alpha2-antiplasmin deficiency	antiplasmin deficiency//alpha-2-plasmin inhibitor deficiency//anti-plasmin deficiency, congenital//antiplasmin deficiency, congenital//plasmin inhibitor deficiency//antiplasmin defiency//congenital alpha2-antiplasmin deficiency	SERPINF2	SERPINF2	https://raresource.nih.gov/literature/disease/0000731	0000731	262850	79				serpin family F member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital alpha2-antiplasmin deficiency"	0	0	63
Supravalvular aortic stenosis	aortic stenosis, supravalvular//aortic supravalvular stenoses//aortic supravalvular stenosis//congenital supravalvular aortic stenosis//supravalvar aortic stenosis, eisenberg type//svas//svas - supravalvar aortic stenosis//stenoses, aortic supravalvular//stenosis, aortic supravalvular//stenosis, supravalvular aortic//supra-valvular aortic stenosis//supravalvar aortic stenosis//supravalvular aortic stenosis//supravalvular stenoses, aortic//supravalvular stenosis, aortic//supravalvular aortic stenosis (disease)//supravalvular aortic stenosis; svas	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[]=Supravalvular aortic stenosis"	0	0	943
Familial apolipoprotein C-II deficiency	familial apoc2 deficiency//familial apoc-ii deficiency	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"	0	0	5
Aromatic L-amino acid decarboxylase deficiency	aadc deficiency//aadc deficiency aromatic l-amino acid decarboxylase deficiency//aadcd//aromatic l-amino acid decarboxylase deficiency//aromatic amino acid decarboxylase deficiency//ddc deficiency//dopa decarboxylase deficiency//deficiency of aromatic-l-amino-acid decarboxylase//deficiency of dopa decarboxylase//deficiency of hydroxytryptophan decarboxylase//deficiency of tryptophan decarboxylase//aromatic l-amino-acid decarboxylase deficiency	DDC	DDC	https://raresource.nih.gov/literature/disease/0000770	0000770	608643	35708	C0342686			dopa decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aromatic L-amino acid decarboxylase deficiency"	0	0	197
Arterial tortuosity syndrome	arterial tortuosity//ators//ats//arterial tortuosity syndrome//arterial tortuosity syndrome; ats	SLC2A10	SLC2A10	https://raresource.nih.gov/literature/disease/0000774	0000774	208050	3342	C1859726			solute carrier family 2 member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arterial tortuosity syndrome"	0	0	666
Distal arthrogryposis type 1	amc//amcd1//arthrogryposis multiplex congenita, distal, type i//arthrogryposis, distal, type 1//arthrogryposis, distal, type 2b4//arthrogryposis multiplex congenita distal type 1//arthrogryposis multiplex congenita, distal type 1//da 1//da1//da1a//da2b4//digitotalar dysmorphism//distal arthrogryposis type 1a (sub-type)//distal arthrogryposis type 1b (sub-type)//distal arthrogryposis, type 1//hereditary ulnar drift//ulnar drift, hereditary//arthrogryposis multiplex congenita//arthrogryposis multiplex congenita, distal, type 1//arthrogryposis, distal, type 1a//distal arthrogryposis type 1	TNNI2;NALCN;TPM2;MYH3;MYBPC1;TNNT3	TNNI2;NALCN;TPM2;MYH3;MYBPC1;TNNT3	https://raresource.nih.gov/literature/disease/0000787	0000787	614335	1146	C1852085			troponin I2, fast skeletal type;sodium leak channel, non-selective;tropomyosin 2;myosin heavy chain 3;myosin binding protein C1;troponin T3, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal arthrogryposis type 1"	0	0	942
Neurogenic arthrogryposis multiplex congenita	amc neurogenic type//amc, neurogenic type//amc2//amcn//arthrogryposis multiplex congenita, neurogenic type//arthrogryposis multiplex congenita neurogenic type//neurogenic type of amc//arthrogryposis multiplex congenita 2, neurogenic type//arthrogryposis multiplex congenita, neurogenic type; amcn//neurogenic arthrogryposis multiplex congenita	ERGIC1	ERGIC1	https://raresource.nih.gov/literature/disease/0000790	0000790	208100	1143	C1859721	C536614		endoplasmic reticulum-golgi intermediate compartment 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurogenic arthrogryposis multiplex congenita"	0	0	11
Arthrogryposis-renal dysfunction-cholestasis syndrome	arc syndrome//arcs//arcs1//arthrogryposis, renal dysfunction, and cholestasis//arthrogryposis - renal dysfunction - cholestasis//arthrogryposis multiplex congenita, renal dysfunction, and cholestasis//arthrogryposis renal dysfunction cholestasis syndrome//arthrogryposis, renal dysfunction and cholestasis (arc) syndrome//arthrogryposis, renal dysfunction, and cholestasis 1//arthrogryposis-renal dysfunction-cholestasis//vps33b arthrogryposis-renal dysfunction-cholestasis syndrome//vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome//arthrogryposis, renal dysfunction, and cholestasis type 1//arthrogryposis-renal dysfunction-cholestasis syndrome//arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in vps33b	VPS33B;VIPAS39	VPS33B;VIPAS39	https://raresource.nih.gov/literature/disease/0000794	0000794	208085	2697	C1859722	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-renal dysfunction-cholestasis syndrome"	0	0	122
Orofaciodigital syndrome type 4	baraitser-burn syndrome//mohr-majewski syndrome//ofd iv - orofacial-digital syndrome iv//ofd syndrome with tibial defects//ofd syndrome, baraitser-burn type//ofd syndrome 4//ofd4//ofds 4//ofds iv//oral-facial-digital syndrome, type iv//oral facial digital syndrome, type iv//oral facial digital syndrome 4//oral facial digital syndrome type 4//oral-facial-digital syndrome type 4//orofacial-digital syndrome iv//orofaciodigital syndrome iv//orofaciodigital syndrome 4//orofaciodigital syndrome with tibial dysplasia//oral-facial-digital syndrome, type 4//orofaciodigital syndrome iv; ofd4//orofaciodigital syndrome type 4//orofaciodigital syndrome type iv	TCTN3	TCTN3	https://raresource.nih.gov/literature/disease/0000816	0000816	258860	2753	C0406727			tectonic family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 4"	0	0	305
Barber-Say syndrome	barber-say syndrome; bbrsay//bbrsay//bss//barber say syndrome//barber-say syndrome//hypertrichosis, atrophic skin, ectropion, and macrostomia//hypertrichosis - atrophic skin - ectropion - macrostomia//hypertrichosis atrophic skin ectropion 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"	0	0	487
Bardet-biedl syndrome 1	bbs//bbs1//bardet-biedl syndrome 1//bardet-biedl syndrome 1; bbs1//bardet-biedl syndrome type 1	ARL6;CCDC28B;BBS1	ARL6;CCDC28B;BBS1	https://raresource.nih.gov/literature/disease/0000820	0000820		110	C2936862			ADP ribosylation factor like GTPase 6;coiled-coil domain containing 28B;Bardet-Biedl syndrome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 1"	0	0	853
Bardet-biedl syndrome 2	bbs//bbs2//bbs2 bardet-biedl syndrome//bardet-biedl syndrome 2//bardet-biedl syndrome 2; bbs2//bardet-biedl syndrome caused by mutation in bbs2//bardet-biedl syndrome type 2	BBS2	BBS2	https://raresource.nih.gov/literature/disease/0000821	0000821		110	C2936863			Bardet-Biedl syndrome 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 2"	0	0	850
Bardet-biedl syndrome 3	bbs3//bardet-biedl syndrome 3//bardet-biedl syndrome 3; bbs3//bardet-biedl syndrome type 3	ARL6	ARL6	https://raresource.nih.gov/literature/disease/0000822	0000822			C1859564			ADP ribosylation factor like GTPase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 3"	0	0	3
Bardet-biedl syndrome 4	bbs4//bardet-biedl syndrome 4//bardet-biedl syndrome 4; bbs4//bardet-biedl syndrome type 4	BBS4	BBS4	https://raresource.nih.gov/literature/disease/0000823	0000823			C2936864			Bardet-Biedl syndrome 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 4"	0	0	1108
Immunodeficiency by defective expression of MHC class II	bare lymphocyte syndrome//bare lymphocyte syndrome, type ii, complementation group a//bare lymphocyte syndrome, type ii, complementation group b//bare lymphocyte syndrome, type ii, complementation group c//bare lymphocyte syndrome, type ii, complementation group d//bare lymphocyte syndrome, type ii, complementation group e//bare lymphocyte syndrome, type ii//bare lymphocyte syndrome, type ii, complementation group b, included//bare lymphocyte syndrome, type ii, complementation group c, included//bare lymphocyte syndrome, type ii, complementation group d, included//bare lymphocyte syndrome, type ii, complementation group e, included//bls//bls 2//bls type ii//bls, type ii//blsii//bare lymphocyte syndrome 2//bare lymphocyte syndrome type 2//bare lymphocyte syndrome, type 2//bls, type 2//hla class 2-negative scid//hla class 2-negative severe combined immunodeficiency//mhc class ii deficiency//mhc class ii expression deficiency//scid due to absent class ii hla antigens//scid, hla class ii-negative//scid, hla class ii-negative bare lymphocyte syndrome, type ii, complementation group a, included//scid, hla class 2-negative//severe combined immunodeficiency, hla class ii-negative//bare lymphocyte syndrome type ii//immunodeficiency by defective expression of hla class 2//immunodeficiency by defective expression of hla class type 2//major histocompatibility complex class ii expression deficiency	RFX5;CIITA;RFXAP;RFXANK	RFX5;CIITA;RFXAP;RFXANK	https://raresource.nih.gov/literature/disease/0000824	0000824	209920	572	C2931418			regulatory factor X5;class II major histocompatibility complex transactivator;regulatory factor X associated protein;regulatory factor X associated ankyrin containing protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency by defective expression of MHC class II"	0	0	467
Frontometaphyseal dysplasia	fmd//frontometaphyseal dysplasia	MAP3K7;FLNA	MAP3K7;FLNA	https://raresource.nih.gov/literature/disease/0000826	0000826	617137	1826	C0265293	C538064		mitogen-activated protein kinase kinase kinase 7;filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frontometaphyseal dysplasia"	0	0	3681
Behçet disease	adamantiades behcet disease//adamantiades-behcet disease//adamantiades-behcet diseases//bd//behcet dis//behcet disease//bechet syndrome//behcet syndrome//behcet triple symptom complex//behcet's disease//behcet's syndrome//behcets syndrome//behet's syndrome//behet's syndrome (disorder)//behçet diseases//behçet syndrome//behçet's disease//behçet's syndrome//behçet-adamantiades syndrome//behçet’s disease//malignant aphthosis//morbus behçet's syndrome//old silk route disease//symptom complex, triple//triple symptom complex//triple symptom complices//triple-symptom complex//silk road disease	MEFV;STAT4;TLR4;FAS;IL12A-AS1;UBAC2;IL23R;C4A;CCR1;ERAP1;IL10;IFNGR1;HLA-B;IL12A;KLRC4	MEFV;STAT4;TLR4;FAS;IL12A-AS1;UBAC2;IL23R;C4A;CCR1;ERAP1;IL10;IFNGR1;HLA-B;IL12A;KLRC4	https://raresource.nih.gov/literature/disease/0000848	0000848	109650	117	C0004943	D001528		MEFV innate immunity regulator, pyrin;signal transducer and activator of transcription 4;toll like receptor 4;Fas cell surface death receptor;IL12A antisense RNA 1;UBA domain containing 2;interleukin 23 receptor;complement C4A (Rodgers blood group);C-C motif chemokine receptor 1;endoplasmic reticulum aminopeptidase 1;interleukin 10;interferon gamma receptor 1;major histocompatibility complex, class I, B;interleukin 12A;killer cell lectin like receptor C4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Behçet disease"	0	0	22077
Seizures, benign familial infantile, 1	bfic//bfic1//bfie//bfis//bfis1//benign familial infantile convulsions//benign familial infantile convulsions syndrome//benign familial infantile seizures//benign infantile familial convulsions//convulsions, benign familial infantile, 1//benign familial infantile convulsion//benign familial infantile convulsions syndrome 1//benign familial infantile epilepsy//benign infantile familial convulsions 1//seizures, benign familial infantile//seizures, benign familial infantile, 1//seizures, benign familial infantile, 1; bfis1	BFIS1	BFIS1	https://raresource.nih.gov/literature/disease/0000856	0000856		306	C4551769			Benign familial infantile seizures	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seizures, benign familial infantile, 1"	0	0	3058
Benign familial infantile epilepsy	bfie//bfis//benign familial infantile convulsions//benign familial infantile seizures	SCN8A;PRRT2;SCN2A;KCNQ3;KCNQ2	SCN8A;PRRT2;SCN2A;KCNQ3;KCNQ2	https://raresource.nih.gov/literature/disease/0000857	0000857	605751	306	C0220669			sodium voltage-gated channel alpha subunit 8;proline rich transmembrane protein 2;sodium voltage-gated channel alpha subunit 2;potassium voltage-gated channel subfamily Q member 3;potassium voltage-gated channel subfamily Q member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign familial infantile epilepsy"	0	0	140
Chronic beryllium disease	acute berylliosis//beryllioses//berylliosis//berylliosis (disorder)//beryllium disease//beryllium granuloma//beryllliosis//chronic berylliosis//chronic beryllium lung//chronic beryllium lung disease//chronic beryllium poisoning//chronic pulmonary berylliosis//reversible berylliosis//subacute berylliosis//beryllium poisoning//chronic beryllium disease	HLA-DPB1	HLA-DPB1	https://raresource.nih.gov/literature/disease/0000867	0000867		133	C0005138	D001607		major histocompatibility complex, class II, DP beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic beryllium disease"	0	0	759
Beta-mannosidosis	beta-mannosidase deficiency//beta-mannosidosis//beta-d-mannosidosis//lysosomal beta-mannosidase deficiency//lysosomal beta a mannosidosis//lysosomal beta mannosidase deficiency//lysosomal beta-mannosidase deficiencies//mansb//mannosidosis, beta a, lysosomal//beta mannosidase deficiency//beta mannosidosis//beta-mannosidase deficiencies//beta-mannosidoses//mannosidosis, beta a, lysosomal; mansb	MANBA	MANBA	https://raresource.nih.gov/literature/disease/0000869	0000869	248510	118	C2931893	D044905		mannosidase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-mannosidosis"	0	0	100
Beta-ketothiolase deficiency	2-alpha-methyl-3-hydroxybutyricacidemia//2-methyl-3-hydroxybutyric acidemia//2-methyl-3-hydroxybutyricacidemia//3-alpha-ketothiolase deficiency//3-alpha-ktd deficiency//3-alpha-oxothiolase deficiency//3-ketothiolase deficiency//3-ktd deficiency//3-methylhydroxybutyric acidemia//3-oxothiolase deficiency//alpha-methylacetoacetic aciduria//alpha methylacetoacetic aciduria//alpha-methyl-acetoacetyl-coa thiolase deficiency//alpha-methylacetoaceticaciduria//b-ketothiolase deficiency//beta-ketothiolase deficiency//bkt//beta ketothiolase deficiency//mat deficiency//mitochondrial acetoacetyl-coa thiolase deficiency//mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated//mitochondrial acetoacetyl-coenzyme a thiolase deficiency//t2 deficiency//peroxisomal thiolase deficiency	ACAT1	ACAT1	https://raresource.nih.gov/literature/disease/0000872	0000872	203750	134	C1536500			acetyl-CoA acetyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-ketothiolase deficiency"	0	0	137
Bethlem myopathy	bethlem myopathy//bthlm1//benign congenital muscular dystrophy//benign congenital myopathy with contractures//benign autosomal dominant myopathy//bethlem myopathy 1//bethlem myopathy 1; bthlm1//bethlem myopathy type 1//lgmdd5//muscular dystrophy, benign congenital//muscular dystrophy, limb-girdle, autosomal dominant 5//myopathy, benign congenital, with contractures	COL6A1;COL12A1;COL6A2;COL6A3	COL6A1;COL12A1;COL6A2;COL6A3	https://raresource.nih.gov/literature/disease/0000873	0000873	616471	610	C1834674	C535436		collagen type VI alpha 1 chain;collagen type XII alpha 1 chain;collagen type VI alpha 2 chain;collagen type VI alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bethlem myopathy"	0	0	213
Biotinidase deficiency	btd deficiency//btd deficiencies//biotin deficiency//biotinidase deficiencies//carboxylase deficiency, multiple, late-onset//deficiencies, btd//deficiencies, biotinidase//deficiency, btd//deficiency, biotinidase//deficiency, multiple carboxylase, late-onset//juvenile-onset multiple carboxylase deficiency//late onset biotin responsive multiple carboxylase deficiency//late onset multiple carboxylase deficiency//late-onset biotin-responsive multiple carboxylase deficiency//late-onset multiple carboxylase deficiency//multiple carboxylase deficiency, juvenile-onset//multiple carboxylase deficiency, late-onset//multiple carboxylase deficiency, late onset//multiple carboxylase deficiency - late onset//biotinidase deficiency//deficiency of biotinidase	BTD	BTD	https://raresource.nih.gov/literature/disease/0000894	0000894	253260	79241	C1854698	D028921		biotinidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Biotinidase deficiency"	0	0	873
Blomstrand lethal chondrodysplasia	blc//bocd//blomstrand chondrodysplasia//blomstrand lethal osteochondrodysplasia//blomstrand osteochondrodysplasia//blomstrand syndrome//blomstrand type//blomstrand type chondrodysplasia//blomstrand's lethal chondrodysplasia//chondrodysplasia//chondrodysplasia blomstrand type//chondrodysplasia, blomstrand type//lethal congenital dwarfism with accelerated skeletal maturation//chondrodysplasia, blomstrand type; 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[]=Blomstrand lethal chondrodysplasia"	0	0	606
Bloom syndrome	blm//bls//bs//bs - bloom syndrome//bsyn//bloom torre machacek syndrome//bloom syndrome; blm//bloom's syndrome//bloom's syndromes//bloom-torre-machacek syndrome//congenital telangiectatic erythema//congenital telangiectatic erythema syndrome//congenital telangiectatic erythemas//erythema, congenital telangiectatic//growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability//mgrisce1//microcephaly, growth restriction, and increased sister chromatid exchange 1//telangiectatic erythema, congenital	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"	0	0	354
Blue cone monochromatism	achromatopsia incomplete x-linked//achromatopsia incomplete, x-linked//atypical x-linked achromatopsia//bcm//blue cone monochromatism//blue cone monochromacy//blue-mono-cone-monochromatic type colorblindness//cbbm//cod5//colorblindness, blue-mono-cone-monochromatic type//cone dystrophy 5, x-linked//color blindness//color blindness blue mono cone monochromatic type//color blindness, blue monocone monochromatic type//colour blindness, blue monocone monochromatic type//cone monochromatism//incomplete achromatopsia//incomplete achromatopsia , x-linked//incomplete achromatopsia x-linked//s cone monochromacy//s cone monochromatism//s-cone monochromacy//x-chromosome-linked achromatopsia//x-linked achromatopsia incomplete//x-linked achromatopsia, incomplete//x-linked incomplete achromatopsia//blue cone monochromacy; bcm//blue monocone monochromatic type	OPN1MW;OPN1LW	OPN1MW;OPN1LW	https://raresource.nih.gov/literature/disease/0000917	0000917	303700	16	C2931753	C538165		opsin 1, medium wave sensitive;opsin 1, long wave sensitive	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blue cone monochromatism"	0	0	254
Boomerang dysplasia	boomd//boomerang-like skeletal dysplasia//dwarfism with short, bowed, rigid limbs and characteristic facies//piepkorn 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"	0	0	26
Borjeson-Forssman-Lehmann syndrome	bfls//borj//borjeson syndrome//borjeson-forssman-lehmann syndrome; bfls//intellectual deficiency - epilepsy - endocrine disorders//intellectual deficiency-epilepsy-endocrine disorders syndrome//intellectual disability-epilepsy-endocrine disorders syndrome//mental retardation, epilepsy, and endocrine disorders//mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type//mrxsbfl//mental deficiency, epilepsy, and endocrine disorders//mental deficiency, epilepsy and endocrine disorders//intellectual disability, x-linked, syndromic, borjeson-forssman-lehmann type//intellectual disability, epilepsy, and endocrine disorder//intellectual disability, epilepsy, and endocrine disorders//mental retardation, epilepsy, and endocrine disorder//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"	0	0	50
Ataxia-hypogonadism-choroidal dystrophy syndrome	ataxia - hypogonadism - choroidal dystrophy//bnhs//boucher neuhauser syndrome//boucher neuhäuser syndrome//boucher-neuhauser syndrome//boucher-neuhauser syndrome; bnhs//boucher-neuhchäuser syndrome//boucher-neuhäuser syndrome//cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome//chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism//chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism//spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy//ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0000944	0000944	215470	1180	C1859093			patatin like phospholipase domain containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-hypogonadism-choroidal dystrophy syndrome"	0	0	42
Branchioskeletogenital syndrome	brachioskeletogenital syndrome//bsg syndrome//branchio-skeleto-genital syndrome//elsahy-waters syndrome//elsahy-waters syndrome; esws//esws//hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss//branchioskeletogenital syndrome//hypospadias, hypertelorism, upper 51d coloboma, and mixed-type hearing loss//hypospadias-hypertelorism-coloboma and deafness syndrome	CDH11	CDH11	https://raresource.nih.gov/literature/disease/0000955	0000955	211380	1299	C1859384			cadherin 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchioskeletogenital syndrome"	0	0	14
SPECC1L-related hypertelorism syndrome	brachycephalofrontonasal dysplasia//craniofrontonasal dysplasia teebi type//craniofrontonasal dysplasia, teebi type//hypertelorism, teebi type//hypertelorism teebi type//tbhs//teebi hypertelorism syndrome//teebi syndrome	SPECC1L	SPECC1L	https://raresource.nih.gov/literature/disease/0000957	0000957	145420	1519	C1840378			sperm antigen with calponin homology and coiled-coil domains 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SPECC1L-related hypertelorism syndrome"	0	0	15
Aymé-Gripp syndrome	aygrp//ayme-gripp syndrome; aygrp//ayme-gripp syndrome//brachycephaly, deafness, cataract, microstomia, and mental retardation//brachycephaly - deafness - cataract - intellectual disability//brachycephaly, deafness, cataract and mental retardation//brachycephaly, deafness, cataract, intellectual disability syndrome//brachycephaly-deafness-cataract-intellectual disability syndrome//brachycephaly-hearing loss-cataract-intellectual disability syndrome//cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation//fine-lubinsky syndrome//fine lubinsky syndrome//brachycephaly, deafness, cataract and intellectual disability//brachycephaly, deafness, cataract, microstomia, and intellectual disability//cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and intellectual disability	MAF	MAF	https://raresource.nih.gov/literature/disease/0000958	0000958	601353	1272	C0795941	C537933		MAF bZIP transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aymé-Gripp syndrome"	0	0	18566
Brachydactyly-elbow wrist dysplasia syndrome	brachydactyly with joint dysplasia//brachydactyly - joint dysplasia//brachydactyly elbow wrist dysplasia//brachydactyly-joint dysplasia syndrome//lbnbg//liebenberg syndrome; lbnbg//liebenberg syndrome//synostosis, carpal, with dysplastic elbow joints and brachydactyly//brachydactyly-elbow wrist dysplasia syndrome//carpal synostosis with dysplastic elbow joints and brachydactyly	MACROH2A1;PITX1	MACROH2A1;PITX1	https://raresource.nih.gov/literature/disease/0000966	0000966	186550	1275				macroH2A.1 histone;paired like homeodomain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly-elbow wrist dysplasia syndrome"	0	0	2417
Brachydactyly-arterial hypertension syndrome	bilginturan syndrome//brachydactyly with hypertension//brachydactyly, type e, with short stature and hypertension//bilginturan brachydactyly//brachydactyly and arterial hypertension syndrome//brachydactyly type e with short stature and hypertension//brachydactyly type e, with short stature and hypertension//htnb//hypertension with brachydactyly//brachydactyly-arterial hypertension syndrome//hypertension and brachydactyly syndrome//hypertension and brachydactyly syndrome; htnb//type e brachydactyly with short stature and hypertension//with short stature and hypertension	PDE3A	PDE3A	https://raresource.nih.gov/literature/disease/0000967	0000967	112410	1276	C1862170			phosphodiesterase 3A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly-arterial hypertension syndrome"	0	0	13
Brachydactyly type A1	bda1//brachydactyly, type a1; bda1//brachydactyly//brachydactyly farabee type//brachydactyly, farabee type//brachydactyly, type a1//farabee-type brachydactyly//farabee type//farabee type brachydactyly//type a1 brachydactyly//brachydactyly type a1	IHH;BMPR1B;GDF5	IHH;BMPR1B;GDF5	https://raresource.nih.gov/literature/disease/0000978	0000978	112500	93388	C1862151	C537088		Indian hedgehog signaling molecule;bone morphogenetic protein receptor type 1B;growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type A1"	0	0	986
Brachydactyly type A2	bda2//brachymesophalangy ii//brachydactyly//brachydactyly mohr wriedt type//brachydactyly, mohr-wriedt type//brachydactyly, type a2//brachydactyly, type 2a//brachymesophalangy 2//brachymesophalangy type 2//mohr-wriedt type brachydactyly//mohr-wriedt type//short index fingers and second toes//type a2 brachydactyly//brachydactyly type a2//brachydactyly, type a2; bda2	BMP2;BMPR1B;GDF5	BMP2;BMPR1B;GDF5	https://raresource.nih.gov/literature/disease/0000979	0000979	112600	93396	C1832702	C537089		bone morphogenetic protein 2;bone morphogenetic protein receptor type 1B;growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type A2"	0	0	965
Brachydactyly type C	bdc//brachydactyly, haws type//brachydactyly haws type//brachydactyly, type c//type c brachydactyly//brachydactyly type c//brachydactyly, type c; bdc	GDF5;BMPR1B	GDF5;BMPR1B	https://raresource.nih.gov/literature/disease/0000986	0000986	113100	93384	C1862103	C537093		growth differentiation factor 5;bone morphogenetic protein receptor type 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type C"	0	0	162
Brachydactyly type E		HOXD13;PTHLH	HOXD13;PTHLH	https://raresource.nih.gov/literature/disease/0000987	0000987	113300	93387	C0265312			homeobox D13;parathyroid hormone like hormone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachydactyly type E"	0	0	588
Spondyloepiphyseal dysplasia, Maroteaux type	brachyolmia maroteaux type//brachyolmia type 2//pseudo-morquio syndrome, type 2//pseudo-morquio syndrome type 2//sed, maroteaux type//spondyloepiphyseal dysplasia maroteaux type//spondyloepimetaphyseal dysplasia, maroteaux type//spondyloepiphyseal dysplasia of maroteaux//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[]=Spondyloepiphyseal dysplasia, Maroteaux type"	0	0	7
Brittle cornea syndrome	bcs1//corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility//dysgenesis mesodermalis corneae et sclerae//eds vib (formerly)//eds6b, formerly//ehlers-danlos syndrome, type vib, formerly//ehlers-danlos syndrome type 6b (formerly)//ehlers-danlos syndrome type 6b//ehlers-danlos syndrome, type vib//fragilitas oculi with joint hyperextensibility//znf469 brittle cornea syndrome//brittle cornea syndrome//brittle cornea syndrome 1//brittle cornea syndrome 1; bcs1//brittle cornea syndrome caused by mutation in znf469//brittle cornea syndrome type 1//kyphoscoliosis type//type vib ehlers-danlos syndrome	PRDM5;ZNF469	PRDM5;ZNF469	https://raresource.nih.gov/literature/disease/0001019	0001019	229200	90354	C0268344			PR/SET domain 5;zinc finger protein 469	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brittle cornea syndrome"	0	0	73
Bruck syndrome	arthrogryposis-like disorder//brks1//bruck syndrome 1//bruck syndrome 1; brks1//bruck syndrome caused by mutation in fkbp10//bruck syndrome type 1//fkbp10 bruck syndrome//kuskokwim disease//osteogenesis imperfecta - congenital joint contractures//osteogenesis imperfecta with congenital joint contractures//osteogenesis imperfecta-congenital joint contractures syndrome	PLOD2;FKBP10	PLOD2;FKBP10	https://raresource.nih.gov/literature/disease/0001029	0001029	259450	2771	C1850168			procollagen-lysine,2-oxoglutarate 5-dioxygenase 2;FKBP prolyl isomerase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bruck syndrome"	0	0	26715
Brugada syndrome	brgda1//bangungut//brugada ecg pattern//brugada syndrome 1//brugada type ecg pattern//brugada syndrome 1; brgda1//brugada syndrome caused by mutation in scn5a//brugada syndrome type 1//brugada type//brugada type idiopathic ventricular fibrillation//cardiac conduction defect, nonspecific//coronary sinus rhythm disorder//dream disease//ecg pattern, brugada//ectopic rhythm disorder//idiopathic ventricular fibrillation//idiopathic ventricular fibrillation, brugada type//nodal rhythm disorder//pokkuri death syndrome//right bundle branch block, st segment elevation, and sudden death syndrome//scn5a brugada syndrome//sudden unexplained nocturnal death syndrome//sunds//sudden unexplained death syndrome//sudden unexplained nocturnal death syndrome (sunds)//sudden unexpected nocturnal death syndrome	KCNE5;SCN10A;KCNE3;PKP2;KCNJ8;SCN1B;AKAP9;ABCC9;KCND3;GPD1L;SCN3B;TRPM4;RANGRF;HCN4;SLMAP;CACNB2;CACNA2D1;CACNA1C;SEMA3A;SCNN1A;SCN5A;SCN2B	KCNE5;SCN10A;KCNE3;PKP2;KCNJ8;SCN1B;AKAP9;ABCC9;KCND3;GPD1L;SCN3B;TRPM4;RANGRF;HCN4;SLMAP;CACNB2;CACNA2D1;CACNA1C;SEMA3A;SCNN1A;SCN5A;SCN2B	https://raresource.nih.gov/literature/disease/0001030	0001030	611876	130	C1142166	D053840		potassium voltage-gated channel subfamily E regulatory subunit 5;sodium voltage-gated channel alpha subunit 10;potassium voltage-gated channel subfamily E regulatory subunit 3;plakophilin 2;potassium inwardly rectifying channel subfamily J member 8;sodium voltage-gated channel beta subunit 1;A-kinase anchoring protein 9;ATP binding cassette subfamily C member 9;potassium voltage-gated channel subfamily D member 3;glycerol-3-phosphate dehydrogenase 1 like;sodium voltage-gated channel beta subunit 3;transient receptor potential cation channel subfamily M member 4;RAN guanine nucleotide release factor;hyperpolarization activated cyclic nucleotide gated potassium channel 4;sarcolemma associated protein;calcium voltage-gated channel auxiliary subunit beta 2;calcium voltage-gated channel auxiliary subunit alpha2delta 1;calcium voltage-gated channel subunit alpha1 C;semaphorin 3A;sodium channel epithelial 1 subunit alpha;sodium voltage-gated channel alpha subunit 5;sodium voltage-gated channel beta subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome"	0	0	3375
X-linked agammaglobulinemia	agammaglobulinemia, x-linked, type 1//agmx1//agammaglobulinemia, btk//agammaglobulinemia, bruton tyrosine kinase//agammaglobulinemia, x-linked//agammaglobulinemia, x-linked, type i//bruton-type agammaglobulinemia//btk deficiency//btk-deficiency//bruton agammaglobulinemia tyrosine kinase deficiency//bruton type agammaglobulinemia//bruton's agammaglobulinemia//bruton's sex-linked agammaglobulinemia//bruton's x-linked agammaglobulinemia//bruton's agammaglobulinaemia//bruton's hypogammaglobulinemia//bruton's type agammaglobulinemia//bruton-type (congenital x-linked) agammaglobulinemia//congenital agammaglobulinemia//hypogammaglobulinemia, x-linked//imd1//immunodeficiency 1//x linked agammaglobulinemia//x-linked agammaglobulinemia (disorder)//xla//xla - x-linked agammaglobulinemia//agammaglobulinemia, x-linked; xla	BTK	BTK	https://raresource.nih.gov/literature/disease/0001033	0001033	300310	47	C0221026	C537409		Bruton tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked agammaglobulinemia"	0	0	1233
Autosomal dominant epidermolytic ichthyosis	bcie//bie//bie - bullous ichthyosiform erythroderma//bullous congenital ichthyosiform erythroderma//bullous erythroderma ichthyosiformis congenita of brocq//bullous ichthyosiform erythroderma//bullous erythroderma ichthyosiforme//bullous erythroderma ichthyosiformes//bullous ichthyosiform erythroderma congenital//bullous ichthyosiform erythrodermas//bullous congenital ichthyosiform erythroderma of brock//bullous ichthyosiform erythroderma congenita//bullous ichthyosis//congenital bullous ichthyosiform erythroderma//congenital ichthyosiform erythroderma, bullous//dominant ichthyosis vulgaris//ehk//ei//epidermolytic hyperkeratosis, late-onset//epidermolytic ichthyosis//epidermolytic hyperkeratoses//epidermolytic hyperkeratosis//epidermolytic palmoplantar hyperkeratosis//erythroderma ichthyosiforme, bullous//erythroderma ichthyosiformes, bullous//erythroderma, bullous ichthyosiform//erythrodermas, bullous ichthyosiform//hyperkeratoses, epidermolytic//hyperkeratosis, epidermolytic//ichthyosiform erythroderma, bullous//ichthyosiform erythroderma, bullous congenital//ichthyosiform erythrodermas, bullous//ichthyosiforme, bullous erythroderma//ichthyosiformes, bullous erythroderma//ichthyosis hystrix brocq type//krt1-related epidermolytic hyperkeratosis//epidermolytic hyperkeratosis; ehk	KRT1;KRT10	KRT1;KRT10	https://raresource.nih.gov/literature/disease/0001039	0001039	607602	312	C0079153			keratin 1;keratin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant epidermolytic ichthyosis"	0	0	899
Buschke-Ollendorff syndrome	bos//buschke ollendorff syndrome//buschke-ollendorff syndrome; bos//dermatofibrosis lenticularis disseminata with osteopoikilosis//dermatofibrosis lenticularis disseminata, isolated//dermatofibrosis, disseminated, with osteopoikilosis//dermatoosteopoikilosis//dermatofibrosis, disseminated with osteopoikilosis//disseminated dermatofibrosis with osteopoikilosis//osteopathia condensans disseminata//osteopoikilosis with melorheostosis//osteopoikilosis, isolated	LEMD3	LEMD3	https://raresource.nih.gov/literature/disease/0001044	0001044	166700	1306	C0265514	C537415		LEM domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Buschke-Ollendorff syndrome"	0	0	1235
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	cadasil//cadasil 1//cadasil syndrome//cadasil type 1//cadasil1//cadasilm//carasil//carasil syndrome//casil//cerebrovascular disease with thin skin, alopecia, and disc disease//cerebral arteriopathy with subcortical infarcts and leukoencephalopathy//cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy//cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy//dementia, hereditary multiinfarct type//dementia, hereditary multi infarct type//dementia, hereditary multi-infarct type//familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension//familial vascular leukoencephalopathy//hereditary multi-infarct dementia//maeda syndrome//nemoto disease//subcortical vascular encephalopathy, progressive//autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1//cerebral arteriopathy with subcortical infaracts and leukoencephalopathy//cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy//cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1//cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; cadasil1//cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy//cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy; carasil	NOTCH3	NOTCH3	https://raresource.nih.gov/literature/disease/0001049	0001049	125310	136	C0751587	D046589		notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"	0	0	1507
Caffey disease	cafyd//caffey de toni silvermann syndrome//caffey disease//caffey syndrome//caffey's disease, familial//caffey's disease//caffey-de toni-silvermann syndrome//congenital cortical hyperostoses//congenital cortical hyperostosis//congenital hyperostoses, cortical//congenital hyperostosis, cortical//cortical congenital hyperostoses//cortical congenital hyperostosis//cortical hyperostoses, congenital//cortical hyperostoses, infantile//cortical hyperostosis, congenital//cortical hyperostosis, infantile//disease, caffey//disease, familial caffey's//familial caffey disease//familial caffey's disease//familial caffeys disease//familial infantile cortical hyperostosis//hyperostoses, congenital cortical//hyperostoses, cortical congenital//hyperostoses, infantile cortical//hyperostosis, congenital cortical//hyperostosis, cortical congenital//hyperostosis, cortical, congenital//hyperostosis, infantile cortical//infantile cortical hyperostosis//infantile cortical hyperostoses//p1pk blood group system, p(2) phenotype//syndrome, caffey-de toni-silvermann	COL1A1	COL1A1	https://raresource.nih.gov/literature/disease/0001051	0001051	114000	1310	C0020497			collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Caffey disease"	0	0	384
Limited cutaneous systemic sclerosis	crest - calcinosis, raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia//crest - calcinosis, raynaud's phenomenon, sclerodactyly, esophageal involvement, telangiectasia syndrome//crest syndromes//crest syndrome//crst syndrome//crst syndromes//calcinosis raynaud phenomenon sclerodactyly telangiectasia//calcinosis cutis, raynaud's, esophageal dysfunction, sclerodactyly and telangiectasia//calcinosis, raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (crest) syndrome//calcinosis, raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome//calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (crest) syndrome//calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome//calcinosis-raynaud phenomenon-sclerodactyly-telangiectasia//limited cutaneous systemic scleroderma//phenomenon-sclerodactyly-telangiectasia, calcinosis-raynaud//syndrome, crest//syndrome, crst//calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia//calcinosis-raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome//limited cutaneous systemic sclerosis	CCN2;CCR6;IRF5;KIAA0319L;HLA-DRB1;CAV1	CCN2;CCR6;IRF5;KIAA0319L;HLA-DRB1;CAV1	https://raresource.nih.gov/literature/disease/0001053	0001053	181750	220402	C0748540			cellular communication network factor 2;C-C motif chemokine receptor 6;interferon regulatory factor 5;KIAA0319 like;major histocompatibility complex, class II, DR beta 1;caveolin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Limited cutaneous systemic sclerosis"	0	0	262
Calpain-3-related limb-girdle muscular dystrophy R1	autosomal recessive limb girdle muscular dystrophy type 2a//autosomal recessive limb-girdle muscular dystrophy type 2a//calpainopathy//capn3 autosomal recessive limb-girdle muscular dystrophy//calpain-3 deficiency limb girdle muscular dystrophy type 2a//calpain-3-related limb-girdle muscular dystrophy r1//calpain-3-related lgmd r1//leyden-moebius muscular dystrophy//lgmd type 2a//lgmd1i//lgmd2//lgmd2a//lgmdd4//lgmdr1//leyden-möbius muscular dystrophy//limb-girdle muscular dystrophy due to calpain deficiency//limb-girdle muscular dystrophy type 2//limb-girdle muscular dystrophy type 2a//muscular dystrophy, limb-girdle, autosomal recessive 1//muscular dystrophy, limb-girdle, type 1i//muscular dystrophy, limb-girdle, type 2//muscular dystrophy, limb-girdle, type 2a//muscular dystrophy, pelvofemoral//myositis, eosinophilic//muscular dystrophy limb girdle type 2a, erb type//muscular dystrophy, limb-girdle, type 2a, amish//primary calpainopathy//autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3//muscular dystrophy, limb-girdle, autosomal dominant 4//muscular dystrophy, limb-girdle, autosomal dominant 4; lgmdd4//muscular dystrophy, limb-girdle, type 2a; lgmd2a//pelvofemoral muscular dystrophy	CAPN3	CAPN3	https://raresource.nih.gov/literature/disease/0001057	0001057	618129	267	C1869123			calpain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Calpain-3-related limb-girdle muscular dystrophy R1"	0	0	352
Camurati-Engelmann disease	caend//ced//camurati engelmann disease//camurati engelmann syndrome//camurati-engelmann disease//camurati-engelmann disease; caend//camurati-engelmann syndrome//camurati-englemann disease//diaphyseal dysplasia 1, progressive//dpd1//diaphyseal dysplasia, progressive//diaphyseal dysplasias, progressive//diaphyseal hyperostoses//diaphyseal hyperostosis//diaphyseal dysplasia//diaphyseal sclerosis//dysplasia, progressive diaphyseal//dysplasias, progressive diaphyseal//engelmann disease//engelman's disease//engelmann syndrome//engelmann's disease//hyperostoses, diaphyseal//hyperostosis, diaphyseal//osteopathia hyperostotica multiplex infantis//pdd//progressive diaphyseal dysplasia	TGFB1	TGFB1	https://raresource.nih.gov/literature/disease/0001072	0001072	131300	1328	C0011989	D003966		transforming growth factor beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camurati-Engelmann disease"	0	0	3319
Chronic mucocutaneous candidiasis	autosomal recessive candidiasis familial chronic mucocutaneous//candf2//candidiasis, familial chronic mucocutaneous, autosomal recessive//card9 immunodeficiency//card9 deficiency//cmc//familial chronic mucocutaneous candidiasis//invasive candidiasis-deep dermatophytosis syndrome//predisposition to invasive fungal disease due to card9 deficiency//candidiasis familial chronic mucocutaneous, autosomal recessive//candidiasis, familial, 2//candidiasis, familial, 2; candf2//candidiasis, familial, type 2	IL17F;TRAF3IP2;IL17RC;IL17RA;CLEC7A	IL17F;TRAF3IP2;IL17RC;IL17RA;CLEC7A	https://raresource.nih.gov/literature/disease/0001077	0001077	613953	1334	C0006845	D002178		interleukin 17F;TRAF3 interacting protein 2;interleukin 17 receptor C;interleukin 17 receptor A;C-type lectin domain containing 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic mucocutaneous candidiasis"	0	0	1148
Progressive familial heart block, type ia	anterior fascicular block//anterior fascicular blocks//bundle branch block//block, anterior fascicular//block, bundle branch//block, bundle-branch//block, fascicular//block, left bundle-branch//block, posterior fascicular//block, right bundle-branch//blocks, anterior fascicular//blocks, bundle branch//blocks, bundle-branch//blocks, fascicular//blocks, left bundle-branch//blocks, posterior fascicular//blocks, right bundle-branch//branch block, bundle//branch blocks, bundle//bundle branch blocks//bundle-branch block, left//bundle-branch block, right//bundle-branch blocks//bundle-branch blocks, left//bundle-branch blocks, right//cardiac conduction defect, nonprogressive//cardiac conduction defect, progressive//familial lenègre disease//familial lev disease//familial lev-lenègre disease//familial pccd//familial progressive heart block//fascicular block//fascicular block, anterior//fascicular block, posterior//fascicular blocks//fascicular blocks, anterior//fascicular blocks, posterior//hbbd//heart block, nonprogressive//heart block, progressive familial, type i//hereditary bundle branch system defect//heart block progressive familial type 1//hereditary bundle branch defect//lenegre-lev disease//left bundle branch block//left bundle-branch block//left bundle-branch blocks//lenegre disease//lenegre's disease//lenegre's syndrome//lev disease//pccd//pfhb//pfhb1a//pfhbi//pfhbia//posterior fascicular block//posterior fascicular blocks//progressive familial heart block//progressive familial heart block type 1a//right bundle branch block//right bundle-branch block//right bundle-branch blocks//scn5a progressive familial heart block//cardiac conduction defect//familial lenegre disease//familial lev-lenegre disease//familial progressive cardiac conduction defect//heart block//heart block, progressive familial, type 1//progressive//progressive familial//progressive familial heart block caused by mutation in scn5a//progressive familial heart block type ia//progressive familial heart block, type ia//progressive familial heart block, type ia; pfhb1a//type i	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0001093	0001093		871	C1879286			sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial heart block, type ia"	0	0	16176
FLNA-related X-linked myxomatous valvular dysplasia	cardiac valvular dysplasia, x-linked; cvd1//cvd1//dystrophie valvulaire associee a flna//dystrophie valvulaire associée à flna//eds 5//eds5, formerly//ehlers-danlos syndrome, type v, formerly//ehlers-danlos syndrome, type 5//flna-related valvular dystrophy//filamin a-related x-linked myxomatous valvular dysplasia//myxomatous valvular dystrophy, x-linked//valvular heart disease, congenital//x-linked cardiac valvular dysplasia//xmvd//cardiac valvular dysplasia, x-linked	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0001096	0001096	314400	555877				filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FLNA-related X-linked myxomatous valvular dysplasia"	0	0	4
Noonan syndrome with multiple lentigines	capute-rimoin-konigsmark-esterly-richardson syndrome//cardio cutaneous syndrome//cardio-cutaneous syndrome//cardio-cutaneous syndromes//cardiomyopathic lentiginoses//cardiomyopathic lentiginoses, progressive//cardiomyopathic lentiginosis//cardiomyopathic lentiginosis, progressive//cardiomyopathic, lentiginosis//cardiomyopathics, lentiginosis//familial multiple lentigines syndrome//generalized lentiginosis//gorlin syndrome ii//lentiginosis, cardiomyopathic//leopard syndrome, 1//leopard syndromes//leopard syndrome//leopard syndrome 1//leopard syndrome type 1//lprd1//lentigines syndrome, multiple//lentigines syndromes, multiple//lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafnes//lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafness//lentiginoses, cardiomyopathic//lentiginoses, progressive cardiomyopathic//lentiginosis cardiomyopathic//lentiginosis cardiomyopathics//lentiginosis profusa syndrome//lentiginosis, progressive cardiomyopathic//leopard syndrome lentiginosis//multiple lentigines syndrome//moynahan syndrome//multiple lentigines syndromes//nsml//noonan syndrome with multiple lentigines//progressive cardiomyopathic lentiginoses//progressive cardiomyopathic lentiginosis//syndrome, cardio-cutaneous//syndrome, leopard//syndrome, multiple lentigines//syndromes, cardio-cutaneous//syndromes, leopard//syndromes, multiple lentigines//cardiocutaneous syndrome//lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded growth, deafness	RAF1;PTPN11;BRAF	RAF1;PTPN11;BRAF	https://raresource.nih.gov/literature/disease/0001100	0001100	611554	500	C0175704	D044542		Raf-1 proto-oncogene, serine/threonine kinase;protein tyrosine phosphatase non-receptor type 11;B-Raf proto-oncogene, serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome with multiple lentigines"	0	0	439
Cardiomyopathy, dilated, 1a	cardiomyopathy, congestive//cardiomyopathy, dilated, with conduction defect 1//cardiomyopathy, familial idiopathic//cardiomyopathy, idiopathic dilated//cdcd1//cmd1a//cardiomyopathies, congestive//cardiomyopathies, familial idiopathic//cardiomyopathies, idiopathic dilated//cardiomyopathy//cardiomyopathy dilated with conduction defect type 1//cardiomyopathy, dilated, autosomal recessive//cardiomyopathy, dilated, cmd1a//cardiomyopathy, dilated, lmna//cardiomyopathy, dilated, with conduction deffect1//congestive cardiomyopathies//congestive cardiomyopathy//dilated cardiomyopathies, idiopathic//dilated cardiomyopathy with quadriceps myopathy//dilated cardiomyopathy, idiopathic//dilated cardiomyopathy-1a//dilated cardiomyopathy with conduction defect//familial idiopathic cardiomyopathies//familial idiopathic cardiomyopathy//familial dilated cardiomyopathy with conduction defect due to lmna mutation//idiopathic cardiomyopathies, familial//idiopathic cardiomyopathy, familial//idiopathic dilated cardiomyopathies//idiopathic dilated cardiomyopathy//lmna familial isolated dilated cardiomyopathy//lmna-related dilated cardiomyopathy//primary idiopathic dilated cardiomyopathy//cardiomyopathy, dilated, 1a//cardiomyopathy, dilated, 1a; cmd1a//cardiomyopathy, dilated, type 1a//congestive//dilated//dilated cardiomyopathy 1a//dilated cardiomyopathy type 1a//dilated cardiomyopathy with conduction defect 1//familial idiopathic//familial isolated dilated cardiomyopathy caused by mutation in lmna//idiopathic dilated//with conduction defect 1	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0001104	0001104			C1449563			lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 1a"	0	0	27636
3MC syndrome	craniofacial-ulnar-renal syndrome//malpuech-michels-mingarelli-carnevale syndrome//oculopalatoskeletal syndrome	COLEC11;MASP1;COLEC10	COLEC11;MASP1;COLEC10	https://raresource.nih.gov/literature/disease/0001118	0001118	265050	293843				collectin subfamily member 11;MBL associated serine protease 1;collectin subfamily member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3MC syndrome"	0	0	339
Carney complex	car//carney myxoma-endocrine complex//cnc//cnc1//carney complex, type 1//carney complex, type 2//carney complex, type i//carney complex, type ii//carney myxoma endocrine complex//carney myxoma endocrine complex, type ii//carney myxoma-endocrine complex, type ii//carney syndrome//carney complex caused by mutation in prkar1a//carney complex variant//carney's syndrome//complex, carney//complex, carney myxoma-endocrine//lamb - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome//lamb syndrome//lamb syndromes//myxoma - spotty pigmentation - endocrine overactivity//myxoma, spotty pigmentation, and endocrine overactivity//myxoma, spotty pigmentation, endocrine overactivity syndrome//myxoma-endocrine complex, carney//myxoma-spotty pigmentation-endocrine overactivity syndrome//name syndrome//name syndromes//nevi, atrial myxoma, skin myxoma, ephelides syndrome//prkar1a carney complex//syndrome, carney//syndrome, lamb//syndromes, lamb//atrial myxoma with lentigines//lamb//lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome	PRKAR1A	PRKAR1A	https://raresource.nih.gov/literature/disease/0001119	0001119	605244	1359	C2607929	D056733		protein kinase cAMP-dependent type I regulatory subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carney complex"	0	0	15719
Carnitine palmitoyl transferase 1A deficiency	carnitine palmitoyltransferase ia deficiency//cpt 1 deficiency//cpt 1a deficiency//cpt deficiency, hepatic, type i//cpt i deficiency//cpt deficiency, hepatic, type 1//cpt deficiency, hepatic, type ia//cpt1 - carnitine palmitoyltransferase i deficiency//cpt1a deficiency//cpt1a disorder of carnitine cycle and carnitine transport//cpti - carnitine palmitoyltransferase deficiency type i//carnitine palmitoyltransferase 1 deficiency//carnitine palmitoyltransferase 1a deficiency//carnitine palmitoyltransferase i deficiency//carnitine palmitoyl transferase 1 deficiency//carnitine palmitoyl transferase ia deficiency//carnitine palmitoyltransferase deficiency type 1//carnitine palmitoyltransferase type i deficiency//hepatic cpt1//hepatic carnitine palmitoyl transferase 1 deficiency//hepatic carnitine palmitoyl transferase i deficiency//hepatic carnitine palmitoyltransferase 1 deficiency//l-cpt 1 deficiency//l-cpt1 deficiency//l-cpti deficiency//liver form of carnitine palmitoyltransferase deficiency//carnitine palmitoyl transferase 1a deficiency//disorder of carnitine cycle and carnitine transport caused by mutation in cpt1a//hepatic cpt deficiency type i	CPT1A	CPT1A	https://raresource.nih.gov/literature/disease/0001120	0001120	255120	156	C1829703			carnitine palmitoyltransferase 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine palmitoyl transferase 1A deficiency"	0	0	15115
Carnitine-acylcarnitine translocase deficiency	cact deficiency//cactd//carnitine-acylcarnitine translocase deficiency; cactd//carnitine acylcarnitine translocase deficiency//carnitine-acylcarnitine carrier deficiency//carnitine-acylcarnitine translocase deficiency	SLC25A20	SLC25A20	https://raresource.nih.gov/literature/disease/0001123	0001123	212138	159	C0342791			solute carrier family 25 member 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carnitine-acylcarnitine translocase deficiency"	0	0	88
X-linked intellectual disability, Stocco Dos Santos type	intellectual developmental disorder, x-linked, syndromic, stocco dos santos type//mental retardation, x-linked, stocco dos santos type//mental retardation, x-linked, syndromic, stocco dos santos type//mental retardation, stocco dos santos type//sdsx//stocco dos santos x-linked intellectual disability syndrome//stocco dos santos x-linked intellectual disability syndrome; sdsx//stocco dos santos x-linked mental retardation syndrome//stocco dos santos x-linked mental retardation syndrome; sdsx//stocco dos santos syndrome//x-linked intellectual disability, stocco dos santos type//intellectual disability, stocco dos santos type//intellectual disability, x-linked, stocco dos santos type	SHROOM4	SHROOM4	https://raresource.nih.gov/literature/disease/0001133	0001133	300434	85288				shroom family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Stocco Dos Santos type"	0	0	2
Early-onset anterior polar cataract	anterior polar cataract//anterior polar cataracts 1//anterior subcapsular cataract//cap//ctaa1//cataract 24, anterior polar//cataract anterior polar//cataract anterior polar dominant//cataract, anterior polar//cataract, anterior polar, 1//cataract, anterior polar, 2//early-onset anterior subcapsular cataract//polar cataract, anterior//early-onset anterior polar cataract	CRYBA2;CRYBB3;CRYGB;CRYAA	CRYBA2;CRYBB3;CRYGB;CRYAA	https://raresource.nih.gov/literature/disease/0001140	0001140	601202	98988	C1855179	C538282		crystallin beta A2;crystallin beta B3;crystallin gamma B;crystallin alpha A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset anterior polar cataract"	0	0	53
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	cardiomyopathy and cataract//cataract and cardiomyopathy//congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome//mitochondrial dna depletion syndrome 10 (cardiomyopathic type)//mtdps10//sengers syndrome//cardiomyopathic mitochondrial dna depletion syndrome 10//congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome//mitochondrial dna depletion syndrome 10	AGK;TKFC;SLC25A4	AGK;TKFC;SLC25A4	https://raresource.nih.gov/literature/disease/0001142	0001142	212350	1369	C1859317	C538280		acylglycerol kinase;triokinase and FMN cyclase;solute carrier family 25 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"	0	0	41
Cataract 4, multiple types	3//autosomal dominant nonnuclear polymorphic congenital cataract//ccp//cataract 4//cataract congenital dominant non nuclear//cataract, nonnuclear polymorphic congenital, autosomal dominant//cataract, polymorphic congenital//pcc//cataract//cerulean type//congenital//crystalline aculeiform//multiple types//nonnuclear polymorphic congenital//progressive juvenile-onset//punctate//with or without microcornea	CRYGD	CRYGD	https://raresource.nih.gov/literature/disease/0001144	0001144			C1861832			crystallin gamma D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 4, multiple types"	0	0	63
Cataract-microcornea syndrome	cataract and microcornea syndrome//cataract microcornea syndrome//cataract-microcornea syndrome//microcornea cataract syndrome//microcornea-cataract syndrome//cataract - microcornea syndrome	CRYBB1;CRYBA4;CRYBB2;CRYAA;MAF;GJA8;CRYGC;CRYGD	CRYBB1;CRYBA4;CRYBB2;CRYAA;MAF;GJA8;CRYGC;CRYGD	https://raresource.nih.gov/literature/disease/0001155	0001155	115700	1377	C1861829	C538287		crystallin beta B1;crystallin beta A4;crystallin beta B2;crystallin alpha A;MAF bZIP transcription factor;gap junction protein alpha 8;crystallin gamma C;crystallin gamma D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract-microcornea syndrome"	0	0	5
Total early-onset cataract	cct//cataract, total congenital//cataract, total congenital with posterior sutural opacities in heterozygotes//congenital cataract, total//congenital complete cataract//congenital total cataract//total early-onset cataract	PGRMC1;NHS;MIP;LSS;GJA8;GCNT2;EPHA2;DNMBP;CRYGB;CRYBB2;SIPA1L3;AGK;LEMD2;HSF4;LIM2;CRYAA;FYCO1	PGRMC1;NHS;MIP;LSS;GJA8;GCNT2;EPHA2;DNMBP;CRYGB;CRYBB2;SIPA1L3;AGK;LEMD2;HSF4;LIM2;CRYAA;FYCO1	https://raresource.nih.gov/literature/disease/0001159	0001159	618415	98994	C0266539	C535341		progesterone receptor membrane component 1;NHS actin remodeling regulator;major intrinsic protein of lens fiber;lanosterol synthase;gap junction protein alpha 8;glucosaminyl (N-acetyl) transferase 2 (I blood group);EPH receptor A2;dynamin binding protein;crystallin gamma B;crystallin beta B2;signal induced proliferation associated 1 like 3;acylglycerol kinase;LEM domain nuclear envelope protein 2;heat shock transcription factor 4;lens intrinsic membrane protein 2;crystallin alpha A;FYVE and coiled-coil domain autophagy adaptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Total early-onset cataract"	0	0	108
Cataract-glaucoma syndrome	cataract-glaucoma	PITX3	PITX3	https://raresource.nih.gov/literature/disease/0001160	0001160		162				paired like homeodomain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract-glaucoma syndrome"	0	0	22
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	adoa plus//adoa plus (autosomal dominant optic atrophy plus)//capos//capos syndrome//cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss//cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss//cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss//cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss//cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome//doa+//dominant optic atrophy plus syndrome//dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy//optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy//optic atrophy - deafness- polyneuropathy - myopathy//optic atrophy 1 and deafness//optic atrophy-deafness-polyneuropathy-myopathy syndrome//optic atrophy-hearing loss-polyneuropathy-myopathy syndrome//treft-sanborn-carey syndrome//autosomal dominant optic atrophy plus syndrome//cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; capos//cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome//optic atrophy type 8	ATP1A3	ATP1A3	https://raresource.nih.gov/literature/disease/0001188	0001188	601338	1171	C1832466			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"	0	0	251
Autosomal recessive progressive external ophthalmoplegia	cerebellar ataxia infantile with progressive external ophthalmoplegia//peob1//polg autosomal recessive progressive external ophthalmoplegia//progressive external ophthalmoplegia, autosomal recessive 1//progressive external ophthalmoplegia with cerebellar ataxia infantile//progressive external ophthalmoplegia, autosomal recessive 1 //arpeo//autosomal recessive progressive external ophthalmoplegia//autosomal recessive progressive external ophthalmoplegia 1//autosomal recessive progressive external ophthalmoplegia caused by mutation in polg//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1; peob1//progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive type 1	POLG;TK2	POLG;TK2	https://raresource.nih.gov/literature/disease/0001191	0001191	258450	254886	C1850303			DNA polymerase gamma, catalytic subunit;thymidine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive progressive external ophthalmoplegia"	0	0	13
Endosteal sclerosis-cerebellar hypoplasia syndrome	cerebellar hypoplasia with endosteal sclerosis//endosteal sclerosis-cerebellar hypoplasia syndrome	POLR3B	POLR3B	https://raresource.nih.gov/literature/disease/0001195	0001195	213002	85186	C1859301	C535353		RNA polymerase III subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Endosteal sclerosis-cerebellar hypoplasia syndrome"	0	0	2
Autosomal recessive cerebelloparenchymal disorder type 3	autosomal recessive spinocerebellar ataxia type 2//cerebellar granular cell hypoplasia and mental retardation, congenital//cerebellar hypoplasia, nonprogressive norman type//cerebelloparenchymal disorder iii//cpd 3//cpd iii//cpd3//cpdiii//cerebelloparenchymal disorder 3//pmpca autosomal recessive congenital cerebellar ataxia//scar2//scar2 (spinocerebellar ataxia autosomal recessive 2)//spinocerebellar ataxia autosomal recessive 2//spinocerebellar ataxia, autosomal recessive 2//autosomal recessive cerebelloparenchymal disorder type 3//autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca//autosomal recessive spinocerebellar ataxia 2//cerebellar granular cell hypoplasia and intellectual disability, congenital//spinocerebellar ataxia, autosomal recessive 2; scar2	PMPCA	PMPCA	https://raresource.nih.gov/literature/disease/0001199	0001199	213200	1170	C1859298			peptidase, mitochondrial processing subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cerebelloparenchymal disorder type 3"	0	0	2
Cerebrofaciothoracic dysplasia	cerebrofaciothoracic dysplasia//cfsmr//cerebro facio thoracic dysplasia//pascual-castroviejo syndrome//pascual-castroviejo syndrome type 1//craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome//craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome; cfsmr//craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome//craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; cfsmr	TMCO1	TMCO1	https://raresource.nih.gov/literature/disease/0001210	0001210	213980	1394	C1859252			transmembrane and coiled-coil domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrofaciothoracic dysplasia"	0	0	24
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	adrvcl//autosomal dominant retinal vasculopathy with cerebral leukodystrophy//cerebroretinal vasculopathy, hereditary//crv//hvr//hereditary vascular retinopathy//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//retinal vasculopathy and cerebral leukoencephalopathy//retinal vasculopathy with cerebral leukodystrophy with systemic manifestations//vasculopathy, retinal, with cerebral leukodystrophy, formerly//vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations//vasculopathy, retinal, with cerebral leukodystrophy//cerebroretinal vasculopathy//grand kaine fulling syndrome//grand-kaine-fulling syndrome//hereditary cerebroretinal vasculopathy//retinal vasculopathy with cerebral leukodystrophy//retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations//vasculopathy, retinal, with cerebral leukodystrophy; rvcl	TREX1	TREX1	https://raresource.nih.gov/literature/disease/0001217	0001217	192315	247691	C1860518			three prime repair exonuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	0	0	105
CLN10 disease	ceroid lipofuscinosis, neuronal, cathepsin d-deficient//cln10//cln10 disease, adult (subtype)//cln10 disease, congenital (subtype)//cln10 disease, juvenile (subtype)//cln10 disease, late infantile (subtype)//ctsd neuronal ceroid lipofuscinosis//cathepsin d deficiency//ceroid lipofuscinosis neuronal cathepsin d-deficient//neuronal ceroid lipofuscinosis due to cathepsin d deficiency//neuronal ceroid lipofuscinosis, congenital//neuronal ceroid lipofuscinosis 10//neuronal ceroid lipofuscinosis 10 //ceroid lipofuscinosis, neuronal, 10//ceroid lipofuscinosis, neuronal, 10; cln10//ceroid lipofuscinosis, neuronal, type 10//neuronal ceroid lipofuscinosis cathepsin d-deficient//neuronal ceroid lipofuscinosis caused by mutation in ctsd//neuronal ceroid lipofuscinosis type 10	CTSD	CTSD	https://raresource.nih.gov/literature/disease/0001218	0001218	610127	228337	C1864669			cathepsin D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLN10 disease"	0	0	32
CLN1 disease	ceroid lipofuscinosis, neuronal, 1, variable age at onset//cln1//cln1 variable age at onset//ceroid lipofuscinosis neuronal 1//ceroid lipofuscinosis, neuronal 1, infantile//hagberg-santavouri type neuronal ceroid lipofuscinosis//hagberg-santavuori disease//haltia-santavouri type neuronal ceroid lipofuscinosis//incl//infantile ncl//infantile neuronal ceroid lipofuscinosis (incl)//neuronal ceroid lipofuscinosis, infantile//neuronal ceroid lipofuscinosis type 1//neuronal ceroid lipofuscinosis 1//neuronal ceroid lipofuscinosis infantile finnish type//neuronal ceroid lipofuscinosis, infantile finnish type//ppt1 neuronal ceroid lipofuscinosis//polyunsaturated acid lipidosis//polyunsaturated fatty acid lipidosis//santavuori disease//santavuori-haltia disease//santavuori haltia disease//adult cln (type of cln1)//ceroid lipofuscinosis, neuronal, 1//ceroid lipofuscinosis, neuronal, 1; cln1//ceroid lipofuscinosis, neuronal, type 1//classic late infantile cln (type of cln1)//infantile cln (type of cln1)//infantile neuronal ceroid lipofuscinosis//juvenile cln (type of cln1)//neuronal ceroid lipofuscinosis 1 variable age of onset//neuronal ceroid lipofuscinosis caused by mutation in ppt1	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[]=CLN1 disease"	0	0	313
CLN7 disease	cln7//cln7 disease, late infantile//mfsd8 neuronal ceroid lipofuscinosis//neuronal ceroid lipofuscinosis 7//ceroid lipofuscinosis, neuronal, 7//ceroid lipofuscinosis, neuronal, 7; cln7//ceroid lipofuscinosis, neuronal, type 7//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			major facilitator superfamily domain containing 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLN7 disease"	0	0	27
CLN4B disease	adult neuronal ceroid lipofuscinosis 4b//autosomal dominant kufs disease//autosomal dominant neuronal ceroid lipofuscinosis 4b//ceroid lipofuscinosis, neuronal, 4 (kufs type)//ceroid lipofuscinosis, neuronal, parry type//cln4//cln4 disease//cln4b//ceroid lipofuscinosis neuronal 4b autosomal dominant//ceroid lipofuscinosis neuronal parry type//ceroid lipofuscinosis, neuronal, 4b, autosomal dominant//dnajc5-related neuronal ceroid-lipofuscinosis//dominant form of adult neuronal ceroid-lipofuscinosis//kufs disease, autosomal dominant//kuf's disease type b//kuf's disease, autosomal dominant//kufs disease autosomal dominant//neuronal ceroid lipofuscinosis type 4b//neuronal ceroid lipofuscinosis, parry type//neuronal ceroid lipofuscinosis 4b//ceroid lipofuscinosis, neuronal, 4b, autosomal dominant; cln4b//neuronal ceroid lipofuscinosis 4 parry type	DNAJC5	DNAJC5	https://raresource.nih.gov/literature/disease/0001222	0001222	162350	228343				DnaJ heat shock protein family (Hsp40) member C5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLN4B disease"	0	0	3
CLN5 disease	ceroid lipofuscinosis, neuronal, 5, variable age at onset//cln5//cln5 disease, adult//cln5 disease, juvenile//cln5 disease, late infantile (subtype)//cln5 neuronal ceroid lipofuscinosis//finnish vlincl//neuronal ceroid lipofuscinosis, late infantile, finnish variant//neuronal ceroid lipofuscinosis 5//neuronal ceroid lipofuscinosis finnish variant//neuronal ceroid lipofuscinosis, 5//neuronal ceroid lipofuscinosis, finnish variant, late infantile//vlincl//ceroid lipofuscinosis, neuronal, 5//ceroid lipofuscinosis, neuronal, 5; cln5//ceroid lipofuscinosis, neuronal, type 5//neuronal ceroid lipofuscinosis 5 variable age of onset//neuronal ceroid lipofuscinosis caused by mutation in cln5//neuronal ceroid lipofuscinosis type 5	CLN5	CLN5	https://raresource.nih.gov/literature/disease/0001223	0001223	256731	228360	C1850442			CLN5 intracellular trafficking protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLN5 disease"	0	0	70
CLN6 disease	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive, formerly//ceroid lipofuscinosis, neuronal, 6 (kufs type)//ceroid lipofuscinosis, neuronal, 6, variable age at onset//cln4a, formerly//cln6//cln6 disease, adult kufs type a (subtype)//cln6 disease, late infantile (subtype)//cln6 late infantile neuronal ceroid lipofuscinosis//neuronal ceroid lipofuscinosis, late infantile, variant//neuronal ceroid lipofuscinosis 6//neuronal ceroid lipofuscinosis, gypsy/indian early juvenile variant//ceroid lipofuscinosis, neuronal, 6//ceroid lipofuscinosis, neuronal, 6; cln6//ceroid lipofuscinosis, neuronal, type 6//late infantile neuronal ceroid lipofuscinosis caused by mutation in cln6//neuronal ceroid lipofuscinosis 6 variable age of onset//neuronal ceroid lipofuscinosis type 6//vlincl	CLN6	CLN6	https://raresource.nih.gov/literature/disease/0001224	0001224	601780	228363	C1866282			CLN6 transmembrane ER protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLN6 disease"	0	0	64
Char syndrome	char//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	C538076		transcription factor AP-2 beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Char syndrome"	0	0	66
Charcot-Marie-Tooth disease type 1A	charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a//charcot-marie-tooth neuropathy, type 1a//cmt 1a//cmt1a//charcot marie tooth disease, type 1a//charcot marie tooth disease, type ia//charcot marie tooth neuropathy, type 1a//charcot marie tooth disease type 1a//charcot-marie-tooth disease, type 1a//charcot-marie-tooth disease, type ia//charcot-marie-tooth disease, demyelinating, type 1a//charcot-marie-tooth disease, demyelinating, type 1a; cmt1a//charcot-marie-tooth neuropathy type 1a//hereditary motor and sensory neuropathy ia//hmsn 1a//hmsn ia//hmsn1a//hereditary motor and sensory neuropathy 1a//microduplication 17p12//autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1a	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 1A"	0	0	735
Autosomal dominant Charcot-Marie-Tooth disease type 2A1	charcot-marie-tooth disease, axonal, autosomal dominant, type 2a1//charcot-marie-tooth disease, neuronal, type 2a1//charcot-marie-tooth neuropathy, type 2a1//cmt 2a//cmt2a//cmt2a1//charcot marie tooth disease type 2a//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 type 2a1//charcot-marie-tooth disease, axonal, type 2a//charcot-marie-tooth disease, axonal, type 2a1//charcot-marie-tooth disease, axonal, type 2a1; cmt2a1//charcot-marie-tooth disease, neuronal, type 2a//charcot-marie-tooth neuropathy type 2a1//hereditary motor and sensory neuropathy iia1//hmsn iia//hmsn iia1//hmsn2a1//hereditary motor and sensory neuropathy 2 a//kif1b charcot-marie-tooth disease type 2//autosomal dominant charcot-marie-tooth disease axonal type 2a1//autosomal dominant charcot-marie-tooth disease type 2a1	KIF1B	KIF1B	https://raresource.nih.gov/literature/disease/0001248	0001248	118210	99946	C1861678			kinesin family member 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2A1"	0	0	140
Primary sclerosing cholangitis	cholangitides, primary sclerosing//cholangitis, primary sclerosing//psc//psc - primary sclerosing cholangitis//primary sclerosing cholangitides//primary sclerosing cholangitis (psc)//sclerosing cholangitides, primary//sclerosing cholangitis//sclerosing cholangitis, primary//cholangitis, primary sclerosing; psc//primary sclerosing cholangitis	GPR35;SEMA4D;TCF4;MST1	GPR35;SEMA4D;TCF4;MST1	https://raresource.nih.gov/literature/disease/0001280	0001280	613806	171	C0566602	C536419		G protein-coupled receptor 35;semaphorin 4D;transcription factor 4;macrophage stimulating 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary sclerosing cholangitis"	0	0	7599
Progressive familial intrahepatic cholestasis type 2	abcb11 progressive familial intrahepatic cholestasis//bric type 2//bric2//bsep deficiency//benign recurrent intrahepatic cholestasis 2//benign recurrent intrahepatic cholestasis 2 (bric2)//cholestasis, benign recurrent intrahepatic, 2//cholestasis, benign recurrent intrahepatic 2//mild abcb11 deficiency//pfic2//pfic2 progressive familial intrahepatic cholestasis type 2//progressive familial intrahepatic cholestasis 2//recurrent familial intrahepatic cholestasis 2//severe abcb11 deficiency//benign recurrent intrahepatic cholestasis type 2//cholestasis, benign recurrent intrahepatic, 2; bric2//cholestasis, benign recurrent intrahepatic, type 2//cholestasis, progressive familial intrahepatic, 2//cholestasis, progressive familial intrahepatic, 2; pfic2//cholestasis, progressive familial intrahepatic, type 2//progressive familial intrahepatic cholestasis caused by mutation in abcb11//progressive familial intrahepatic cholestasis type 2	ABCB11	ABCB11	https://raresource.nih.gov/literature/disease/0001288	0001288	615878	79304	C3489789	C535934		ATP binding cassette subfamily B member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial intrahepatic cholestasis type 2"	0	0	115
Progressive familial intrahepatic cholestasis type 3	abcb4 progressive familial intrahepatic cholestasis//abcb4-related intrahepatic cholestasis//cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase//cholestasis, progressive familial intrahepatic, 3//cholestasis, progressive familial intrahepatic 3//low gamma-gt familial intrahepatic cholestasis//mdr3 deficiency//pfic3//pfic3 progressive familial intrahepatic cholestasis type 3//progressive familial intrahepatic cholestasis 3 (pfic 3)//progressive familial intrahepatic cholestasis 3 (pfic3)//progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase//cholestasis, progressive familial intrahepatic, 3; pfic3//cholestasis, progressive familial intrahepatic, type 3//progressive familial intrahepatic cholestasis caused by mutation in abcb4//progressive familial intrahepatic cholestasis type 3//progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	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"	0	0	101
Familial calcium pyrophosphate deposition	calcium gout//calcium pyrophosphate arthropathy//calcium pyrophosphate dihydrate deposition disease//calcium pyrophosphate dihydrate deposition disease 2//ccal2//chondrocalcinosis, familial articular//cppdd//cppdd calcium pyrophosphate dihydrate deposition disease//cppdd2//calcium gout, familial//calcium pyrophosphate arthropathy, familial//calcium pyrophosphate dihydrate crystal deposition disease//chondrocalcinosis 2//chondrocalcinosis familial articular//familial cc//familial cppd//familial calcium pyrophosphate dihydrate deposition disease//familial articular chondrocalcinosis//hereditary cc//hereditary articular chondrocalcinosis//hereditary calcium pyrophosphate deposition//pseudogout, familial//chondrocalcinosis 2; ccal2//chondrocalcinosis type 2//familial calcium pyrophosphate deposition	ANKH;TNFRSF11B	ANKH;TNFRSF11B	https://raresource.nih.gov/literature/disease/0001292	0001292	600668	1416	C0856830			ANKH inorganic pyrophosphate transport regulator;TNF receptor superfamily member 11b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial calcium pyrophosphate deposition"	0	0	289
Brachytelephalangic chondrodysplasia punctata	arse x-linked chondrodysplasia punctata//arylsulfatase e deficiency//bcdp//bcdp - brachytelephalangic chondrodysplasia punctata//brachytelephalangic chondrodysplasia punctata//cdpx1//cdxp1//chondrodysplasia punctata due to vitamin k deficiency//chondrodysplasia punctata due to warfarin teratogenicity//chondrodysplasia punctata, brachytelephalangic//cpxr//chondrodysplasia punctata 1, x-linked//chondrodysplasia punctata 1 x-linked recessive//chondrodysplasia punctata 1, x-linked recessive//chondrodysplasia punctata sheffield type//chondrodysplasia punctata brachytelephalangic//chondrodysplasia punctata, sheffield type//x-linked recessive chondrodysplasia punctata 1//x-linked chondrodysplasia punctata 1//x-linked chondrodysplasia punctata caused by mutation in arse//autosomal dominant chondrodysplasia punctata//chondrodysplasia punctata 1, x-linked recessive; cdpx1//chondrodysplasia punctata, autosomal dominant//chondrodysplasia punctata, brachytelephalangic, autosomal	ARSL	ARSL	https://raresource.nih.gov/literature/disease/0001296	0001296	302950	79345	C1844853	C535941		arylsulfatase L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brachytelephalangic chondrodysplasia punctata"	0	0	137
Acromesomelic dysplasia, Grebe type	achondrogenesis, brazilian//achondrogenesis, type ii, formerly//acromesomelic dysplasia 2a//acromesomelic dysplasia, grebe type//amd2a//amdg//achondrogenesis type ii (formerly)//acromesomelic dysplasia grebe type//brazilian achondrogenesis//chondrodysplasia//chondrodysplasia, grebe type//grebe chondrodysplasia//grebe dysplasia//grebe syndrome//grebe type//langer-saldino achondrogenesis//achondrogenesis, type ii//hypochondrogenesis//type ii achondrogenesis	GDF5;BMPR1B	GDF5;BMPR1B	https://raresource.nih.gov/literature/disease/0001300	0001300	200700	2098	C0265260			growth differentiation factor 5;bone morphogenetic protein receptor type 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromesomelic dysplasia, Grebe type"	0	0	680
Ellis Van Creveld syndrome	chondroectodermal dysplasia//chondroectodermal dysplasias//dysplasia, chondroectodermal//dysplasia, ellis-van creveld//dysplasia, mesoectodermal//evc//evc - ellis-van creveld syndrome//evc-related ellis-van creveld syndrome//evc2-related ellis-van creveld syndrome//ellis van creveld dysplasia//ellis van creveld syndrome//ellis-van creveld syndrome; evc//ellis-van creveld dysplasia//ellis-van creveld syndrome//mesoectodermal dysplasia//mesodermic dysplasia//mesoectodermal dysplasias//syndrome, ellis-van creveld	EVC2;GLI1;EVC;DYNC2LI1	EVC2;GLI1;EVC;DYNC2LI1	https://raresource.nih.gov/literature/disease/0001301	0001301	617088	289	C0013903	D004613		EvC ciliary complex subunit 2;GLI family zinc finger 1;EvC ciliary complex subunit 1;dynein cytoplasmic 2 light intermediate chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ellis Van Creveld syndrome"	0	0	462
Chordoma	chdm//chordoma, susceptibility to//chordoma (morphologic abnormality)//chordomas//notochordal sarcoma//chordoma//chordoma (disease)//chordoma, malignant//chordoma, susceptibility to; chdm//notochordoma//susceptibility to chordoma	TBXT	TBXT	https://raresource.nih.gov/literature/disease/0001303	0001303	215400	178	C0008487	D002817		T-box transcription factor T	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chordoma"	0	0	204
Benign hereditary chorea	bch//bhc//benign hereditary chorea//benign hereditary choreas//benign familial chorea//chorea disorder//chorea disorders//chorea syndrome//chorea syndromes//chorea familial benign//chorea, benign hereditary//chorea, chronic progressive//chorea, hereditary//chorea, rheumatic//chorea, senile//chorea, sydenham//chorea, sydenham's//choreas//choreas, benign hereditary//choreas, chronic progressive//choreas, hereditary//choreas, rheumatic//choreas, senile//choreas, sydenham//choreatic disorder//choreatic disorders//choreatic syndrome//choreatic syndromes//choreic movement//choreic movements//choreiform movement//choreiform movements//chronic progressive chorea//chronic progressive choreas//disorder, chorea//disorder, choreatic//disorders, chorea//disorders, choreatic//dyskinesia, paroxysmal//dyskinesias, paroxysmal//hereditary progressive chorea without dementia//hereditary chorea//hereditary chorea, benign//hereditary choreas//hereditary choreas, benign//hereditary benign chorea//involuntary dystonic or choreiform movements//movement, choreic//movement, choreiform//movements, choreic//movements, choreiform//paroxysmal dyskinesia//paroxysmal dyskinesias//paroxysmal choreoathetosis//paroxysmal dystonic choreoathetosis//progressive chorea, chronic//progressive choreas, chronic//rheumatic chorea//rheumatic choreas//senile chorea//senile choreas//st. vitus dance//st. vitus's dance//st. vitus's dances//st. vituss dance//sydenham chorea//sydenham choreas//sydenham's chorea//sydenhams chorea//syndrome, chorea//syndrome, choreatic//syndromes, chorea//syndromes, choreatic//chorea//chorea, benign familial//chorea, benign hereditary; bhc//choreatic disease//choreia	ADCY5;NKX2-1	ADCY5;NKX2-1	https://raresource.nih.gov/literature/disease/0001305	0001305	118700	1429	C1859098			adenylate cyclase 5;NK2 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign hereditary chorea"	0	0	76
CINCA syndrome	caps3//chronic neurologic cutaneous and articular syndrome//cinca//cinca syndrome; cinca//cinca/nomid//cryopyrin-associated periodic syndrome 3//chronic infantile neurological cutaneous articular syndrome//chronic infantile neurological cutaneous and articular syndrome//iomid//iomid syndrome//infantile onset multisystem inflammatory disease//infantile-onset multisystem inflammatory disease//multisystem inflammatory disease, neonatal-onset//nomid//nomid syndrome//neonatal onset multisystem inflammatory disease//neonatal-onset multisystem inflammatory disease//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[]=CINCA syndrome"	0	0	11434
Tibial aplasia-ectrodactyly syndrome	aplasia of tibia with ectrodactyly//aplasia of tibia with split-hand/split-foot deformity//cleft hand absent tibia//ectrodactyly with aplasia of long bones//shfld//shfld syndrome//shfm associated with aplasia of long bones//split hand/foot malformation with long bone deficiency//split-hand/foot malformation associated with aplasia of long bones//split-hand/foot malformation with long bone deficiency//th-shfm//tibial aplasia with split-hand/split-foot deformity//tibial hemimelia with split hand/foot malformation//tibial hemimelia-ectrodactyly syndrome//tibial aplasia-ectrodactyly syndrome	BHLHA9	BHLHA9	https://raresource.nih.gov/literature/disease/0001369	0001369	119100	3329	C1861553			basic helix-loop-helix family member a9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tibial aplasia-ectrodactyly syndrome"	0	0	399
X-linked cleft palate and ankyloglossia	cpx//cleft palate, x-linked//x-linked cleft palate//cleft palate x-linked//cleft palate with or without ankyloglossia, x-linked//cleft palate with or without ankyloglossia, x-linked; cpx	TBX22	TBX22	https://raresource.nih.gov/literature/disease/0001394	0001394	303400	324601				T-box transcription factor 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked cleft palate and ankyloglossia"	0	0	54
Thanatophoric dysplasia type 2	cloverleaf skull with thanatophoric dwarfism//cloverleaf skull - micromelic bone dysplasia//cloverleaf skull-micromelic bone dysplasia syndrome//td2//thanatophoric dysplasia with kleeblattschaedel//thanatophoric dysplasia with straight femurs and cloverleaf skull//thanatophoric dysplasia type ii//thanatophoric dysplasia, type ii//thanatophoric dwarfism - cloverleaf skull//thanatophoric dwarfism type 2//thanatophoric dwarfism-cloverleaf skull syndrome//thanatophoric dysplasia type 2//thanatophoric dysplasia, type 2//thanatophoric dysplasia, type ii; td2//type 2 thanatophoric dysplasia	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0001402	0001402	187601	93274	C1300257			fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thanatophoric dysplasia type 2"	0	0	57
Joubert syndrome with hepatic defect	cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis//coach (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome//coach syndrome//coach syndrome 1//coach1//cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis//cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis//cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis//cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis//cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis//cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis//gentile syndrome//joubert syndrome with congenital hepatic fibrosis//js-h	INPP5E;TMEM67;CC2D2A;RPGRIP1L	INPP5E;TMEM67;CC2D2A;RPGRIP1L	https://raresource.nih.gov/literature/disease/0001410	0001410	619111	1454	C1857662			inositol polyphosphate-5-phosphatase E;transmembrane protein 67;coiled-coil and C2 domain containing 2A;RPGRIP1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with hepatic defect"	0	0	684
Cockayne syndrome type 1	csa//classical cockayne syndrome//cockayne syndrome, group a//cockayne syndrome, type a//cockayne syndrome, type i//cockayne syndrome type 1//cockayne syndrome type i//cockayne syndrome a//cockayne syndrome a; csa//cockayne syndrome caused by mutation in ercc8//cockayne syndrome classic form//cockayne syndrome classical//cockayne syndrome type a//cockayne syndrome type i//ercc8 cockayne syndrome//ercc8-related cockayne syndrome//group a cockayne syndrome//type a cockayne syndrome//type i cockayne syndrome	ERCC8;ERCC4;ERCC6	ERCC8;ERCC4;ERCC6	https://raresource.nih.gov/literature/disease/0001415	0001415	216400	90321	C0751039			ERCC excision repair 8, CSA ubiquitin ligase complex subunit;ERCC excision repair 4, endonuclease catalytic subunit;ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cockayne syndrome type 1"	0	0	2227
Cockayne syndrome type 3	cockayne syndrome, group c//cockayne syndrome, type c//cockayne syndrome type c//cockayne syndrome type iii//cockayne syndrome, type iii//group c cockayne syndrome//type c cockayne syndrome//type iii cockayne syndrome	ERCC6;ERCC8	ERCC6;ERCC8	https://raresource.nih.gov/literature/disease/0001417	0001417	216411	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"	0	0	39
CODAS syndrome	cerebral, ocular, dental, auricular, and skeletal anomalies syndrome//codas (cerebro-oculo-dento-auriculo-skeletal) syndrome//cerebral, ocular, dental, auricular, skeletal anomalies syndrome//cerebral, ocular, dental, auricular, and skeletal syndrome//cerebro-oculo-dento-auriculo-skeletal syndrome//cerebrooculodentoauriculoskeletal 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"	0	0	20
Cockayne syndrome type 2	csb//cockayne syndrome, group b//cockayne syndrome, type b//cockayne syndrome, type ii//cockayne syndrome type 2//cockayne syndrome b//cockayne syndrome b; csb//cockayne syndrome type b//cockayne syndrome type ii//ercc6-related cockayne syndrome//group b cockayne syndrome//type b cockayne syndrome//type ii cockayne syndrome	ERCC1;ERCC8;ERCC6	ERCC1;ERCC8;ERCC6	https://raresource.nih.gov/literature/disease/0001420	0001420	216400	90322	C0751038			ERCC excision repair 1, endonuclease non-catalytic subunit;ERCC excision repair 8, CSA ubiquitin ligase complex subunit;ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cockayne syndrome type 2"	0	0	293
Cole-Carpenter syndrome	bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features//bone fragility - craniosynostosis - proptosis - hydrocephalus//bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome//clcrp1//cole-carpenter syndrome 1; clcrp1//cole carpenter syndrome//cole-carpenter syndrome//cole-carpenter syndrome 1//cole-carpenter syndrome caused by mutation in p4hb//cole-carpenter syndrome type 1//p4hb cole-carpenter syndrome	SEC24D;P4HB	SEC24D;P4HB	https://raresource.nih.gov/literature/disease/0001425	0001425	616294	2050	C1862178	C535963		SEC24 homolog D, COPII coat complex component;prolyl 4-hydroxylase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cole-Carpenter syndrome"	0	0	12
Coloboma of eye lens	coloboma of lens//lens coloboma//coloboma of eye lens	PAX6;FZD5;SALL2;ABCB6	PAX6;FZD5;SALL2;ABCB6	https://raresource.nih.gov/literature/disease/0001433	0001433		98943	C0344516			paired box 6;frizzled class receptor 5;spalt like transcription factor 2;ATP binding cassette subfamily B member 6 (Langereis blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma of eye lens"	0	0	51
Coloboma of iris	coloboma nos//coloboma of iris//coloboma of iris (disease)//coloboma of the iris	FZD5;PAX6;ABCB6;SALL2;ACTG1	FZD5;PAX6;ABCB6;SALL2;ACTG1	https://raresource.nih.gov/literature/disease/0001434	0001434	120200	98944	C0266551			frizzled class receptor 5;paired box 6;ATP binding cassette subfamily B member 6 (Langereis blood group);spalt like transcription factor 2;actin gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma of iris"	0	0	70
Coloboma of macula	agenesis of macula//hereditary macular coloboma (subtype)//macular coloboma//coloboma of macula	PAX6;ABCB6;SALL2;FZD5	PAX6;ABCB6;SALL2;FZD5	https://raresource.nih.gov/literature/disease/0001436	0001436		98945				paired box 6;ATP binding cassette subfamily B member 6 (Langereis blood group);spalt like transcription factor 2;frizzled class receptor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coloboma of macula"	0	0	51
Coloboma of optic disc	coloboma of optic papilla//coloboma of optic disc	ABCB6;FZD5;SALL2;PAX6	ABCB6;FZD5;SALL2;PAX6	https://raresource.nih.gov/literature/disease/0001438	0001438		98947				ATP binding cassette subfamily B member 6 (Langereis 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 optic disc"	0	0	298
Uveal coloboma-cleft lip and palate-intellectual disability	cob1//coloboma-microphthalmos syndrome//coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip-palate//coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate//uveal coloboma-cleft lip-palate-mental retardation syndrome//uveal coloboma-cleft lip/palate-mental retardation syndrome//uveal coloboma-cleft lip/palate-mental retardation syndrome (formerly)//coloboma, cleft lip/palate and intellectual disability syndrome//coloboma, cleft lip/palate and mental retardation syndrome//coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability//coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability; cob1//coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation//coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation; cob1//ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation//uveal coloboma-cleft lip and palate-intellectual disability//uveal coloboma-cleft lip/palate-intellectual disability syndrome	YAP1	YAP1	https://raresource.nih.gov/literature/disease/0001440	0001440	120433	1473	C0795902			Yes1 associated transcriptional regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uveal coloboma-cleft lip and palate-intellectual disability"	0	0	None
Anophthalmia/microphthalmia-esophageal atresia syndrome	aeg syndrome//anophthalmia, clinical, with associated anomalies//anophthalmia-esophageal-genital syndrome//anophthalmia clinical with associated anomalies//anophthalmia esophageal genital syndrome//anophthalmia microphthalmia esophageal atresia//mcops3//microphthalmia and esophageal atresia syndrome//optic nerve hypoplasia and abnormalities of the central nervous system//sox2 anophthalmia syndrome//sox2-related eye disorders//syndromic microphthalmia type 3//syndromic microphthalmia, type 3//anophthalmia/microphthalmia-esophageal atresia syndrome//microphthalmia, syndromic 3//microphthalmia, syndromic 3; mcops3//microphthalmia, syndromic 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"	0	0	24
Complement component 2 deficiency	c2 deficiency//c2 complement deficiency//c2d//complement component c2 deficiency//complement component 2 deficiency//complement component 2 deficiency; c2d//complement deficiency caused by mutation in c2	C2	C2	https://raresource.nih.gov/literature/disease/0001452	0001452		169147	C3150275			complement C2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 2 deficiency"	0	0	173
Cone-rod dystrophy, x-linked, 2	cod2//cone dystrophy 2, x-linked//cordx2//cone dystrophy, x-linked, 2//cone dystrophy x-linked 2//cone-rod dystrophy x-linked 2//x-linked cone dystrophy 2//x-linked cone-rod dystrophy type 2//cone-rod dystrophy, x-linked, 2//cone-rod dystrophy, x-linked, 2; cordx2	COD2	COD2	https://raresource.nih.gov/literature/disease/0001462	0001462			C1848139			Cone dystrophy-2, X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy, x-linked, 2"	0	0	1819
Jalili syndrome	amelogenesis imperfecta co-occurrent with cone rod dystrophy//cone-rod dystrophy and amelogenesis imperfecta//cone rod dystrophy - amelogenesis imperfecta//cone rod dystrophy-amelogenesis imperfecta syndrome//cone-rod dystrophy amelogenesis imperfecta//cone-rod dystrophy with amelogenesis imperfecta	CNNM4	CNNM4	https://raresource.nih.gov/literature/disease/0001463	0001463	217080	1873	C2931074			cyclin and CBS domain divalent metal cation transport mediator 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jalili syndrome"	0	0	27
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	17,20-lyase deficiency, isolated//17-alpha-hydroxylase deficiency//17-alpha-hydroxylase/17,20-lyase deficiency, combined complete//17-alpha-hydroxylase/17,20-lyase deficiency, combined partial//adrenal hyperplasia v//cah due to 17-alpha-hydroxylase deficiency//combined 17-hydroxylase/17,20-lyase deficiency//congenital adrenal hyperplasia type 5//adrenal hyperplasia 5//adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency//congenital adrenal hyperplasia due to 17-alpha-hydroxylase 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[]=Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"	0	0	157
Autosomal dominant congenital benign spinal muscular atrophy	autosomal dominant benign distal spinal muscular atrophy//congenital benign spinal muscular atrophy dominant//congenital benign spinal muscular atrophy with contractures//congenital nonprogressive spinal muscular atrophy	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0001474	0001474	600175	1216				transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant congenital benign spinal muscular atrophy"	0	0	None
Congenital diaphragmatic hernia	agenesis of hemidiaphragm//cdh//cdh - congenital diaphragmatic hernia//congenital diaphragmatic defects//congenital diaphragmatic hernias//congenital diaphragmatic defect//diaphragm, complete agenesis of//diaphragm, unilateral agenesis of//diaphragmatic defect, congenital//diaphragmatic hernia 1//dih//dih1//defect, congenital diaphragmatic//defects, congenital diaphragmatic//diaphragm unilateral ageneses//diaphragm unilateral agenesis//diaphragmatic defects, congenital//diaphragmatic hernia//diaphragmatic hernia, congenital//diaphragmatic hernias, congenital//hcd//hemidiaphragm, agenesis of//hernia, congenital diaphragmatic//hemidiaphragm ageneses//hemidiaphragm agenesis//hernia, hiatal//hernias, congenital diaphragmatic//hernias, diaphragmatic, congenital//unilateral agenesis of diaphragm//congenital diaphragmatic hernia	LONP1;GATA6;ZFPM2	LONP1;GATA6;ZFPM2	https://raresource.nih.gov/literature/disease/0001481	0001481	142340	2140	C0235833	C538080		lon peptidase 1, mitochondrial;GATA binding protein 6;zinc finger protein, FOG family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital diaphragmatic hernia"	0	0	9429
Congenital mesoblastic nephroma	cmn//congenital mesoblastic nephroma//congenital mesoblastic nephromas//mesoblastic nephroma//mesoblastic nephroma, congenital//mesoblastic nephromas, congenital//mesoblastic nephroma (disorder)//nephroma, congenital mesoblastic//nephroma, mesoblastic//nephromas, congenital mesoblastic//nephromas, mesoblastic//mesoblastic nephroma (morphologic abnormality)//stromal nephroma, malignant	ETV6;NTRK3	ETV6;NTRK3	https://raresource.nih.gov/literature/disease/0001493	0001493		2665	C1332965	D018201		ETS variant transcription factor 6;neurotrophic receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital mesoblastic nephroma"	0	0	844
Congenital nephrotic syndrome, Finnish type	cnf//cnf - finnish congenital nephrotic syndrome//congenital finnish nephrosis//congenital nephrotic syndrome 1//congenital nephrotic syndrome finnish type//finnish congenital nephrosis//finnish congenital nephrotic syndrome//nephrotic syndrome, congenital//nephrotic syndrome, type 1//nphs1//nephrosis 1, congenital, finnish type//nephrosis, congenital//nephrotic syndrome, early-onset, type 3//nephrotic syndrome, idiopathic//nephrotic syndrome, type 2//nephrotic syndrome, type 3//nphs3//congenital nephrotic syndrome - finnish type//congenital nephrotic syndrome, finnish type//nephrotic syndrome - nphs1 associated//nephrotic syndrome, type 1; nphs1	NPHS1	NPHS1	https://raresource.nih.gov/literature/disease/0001500	0001500	256300	839	C0403399	C535761		NPHS1 adhesion molecule, nephrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital nephrotic syndrome, Finnish type"	0	0	6136
Hereditary continuous muscle fiber activity	continuous muscle fiber activity, hereditary//isaacs-mertens syndrome//continuous muscle fiber activity hereditary//hereditary continuous muscle fiber activity	KCNA1	KCNA1	https://raresource.nih.gov/literature/disease/0001512	0001512	160120	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"	0	0	581
Continuous spikes and waves during sleep	csws//cswss syndrome//continuous spike-wave during slow sleep syndrome//continuous spikes and waves during slow-wave sleep//epileptic encephalopathy with continuous spike-and-wave during slow sleep	FRRS1L;GRIN2A	FRRS1L;GRIN2A	https://raresource.nih.gov/literature/disease/0001513	0001513	245570	725				ferric chelate reductase 1 like;glutamate ionotropic receptor NMDA type subunit 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Continuous spikes and waves during sleep"	0	0	3450
Restrictive dermopathy	fetal hypokinesia sequence due to restrictive dermopathy//hyperkeratosis-contracture syndrome//infantile restrictive dermopathy//lethal restrictive dermopathy, lmna-related//lethal restrictive dermopathy, zmpste24-related//lethal hyperkeratosis-contracture syndrome//lethal restrictive dermopathy//lethal tight skin contracture syndrome//lethal tight skin-contracture syndrome//restrictive dermopathy, lethal//tight skin contracture syndrome, lethal//restrictive dermopathy//tight skin contracture syndrome	LMNA;ZMPSTE24	LMNA;ZMPSTE24	https://raresource.nih.gov/literature/disease/0001516	0001516	275210	1662	C0406585			lamin A/C;zinc metallopeptidase STE24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Restrictive dermopathy"	0	0	136
Benign familial neonatal-infantile seizures	bfis1//bfnis//benign familial infantile convulsions//benign neonatal-infantile epilepsy//convulsions benign familial neonatal//epilepsy, benign neonatal-infantile//benign familial neonatal-infantile seizures//convulsions, benign familial infantile, 1//seizures, benign familial infantile, 1//seizures, benign familial infantile, 1; bfis1	SCN2A;KCNQ2	SCN2A;KCNQ2	https://raresource.nih.gov/literature/disease/0001518	0001518	607745	140927	C0220669			sodium voltage-gated channel alpha subunit 2;potassium voltage-gated channel subfamily Q member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign familial neonatal-infantile seizures"	0	0	82
Benign familial neonatal epilepsy	autosomal dominant form of benign neonatal seizures//bfns//bfns, autosomal recessive//benign familial neonatal convulsions//benign familial neonatal seizures//convulsions, benign familial neonatal, autosomal recessive//convulsions benign familial neonatal dominant form//epilepsy, benign familial neonatal, autosomal recessive//epilepsy, benign neonatal, autosomal recessive//seizures, benign familial neonatal, autosomal recessive	KCNQ3;KCNQ2	KCNQ3;KCNQ2	https://raresource.nih.gov/literature/disease/0001519	0001519	121201	1949	C0220669	C535466		potassium voltage-gated channel subfamily Q member 3;potassium voltage-gated channel subfamily Q member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign familial neonatal epilepsy"	0	0	251
Menkes disease	atp7a-related copper transport disorders//copper transport disease//congenital hypocupremia//congenital hypocupremias//copper deficiencies, x-linked//copper deficiency, x-linked//copper transport diseases//deficiencies, x-linked copper//deficiency, x-linked copper//disease, copper transport//disease, steely hair//diseases, copper transport//diseases, kinky hair//diseases, menkes'//diseases, steely hair//hair diseases, kinky//hair diseases, steely//hypocupremia, congenital//hypocupremias, congenital//kinky hair disease//kinky hair diseases//kinky hair syndrome//md//menkes syndrome//mk//mk - menkes syndrome//mnk//mnk - menkes syndrome//menke's kinky hair syndrome//menkea syndrome//menkea syndromes//menkes disease//menkes kinky hair disease//menkes kinky hair syndrome//menkes kinky-hair syndrome//menkes' disease//menkes' diseases//steely hair disease//steely hair diseases//steely hair syndrome//steely hair syndromes//syndrome, menkea//syndrome, steely hair//syndromes, menkea//syndromes, steely hair//transport disease, copper//transport diseases, copper//trichopoliodystrophy//x linked copper deficiency//x-linked copper deficiencies//x-linked copper deficiency	ATP7A	ATP7A	https://raresource.nih.gov/literature/disease/0001521	0001521	309400	565	C0022716			ATPase copper transporting alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Menkes disease"	0	0	7856
Corneal dystrophy-perceptive deafness syndrome	cdpd//cdpd1//corneal dystrophy and sensorineural deafness//congenital corneal dystrophy, progressive sensorineural deafness//congenital hereditary endothelial dystrophy and perceptive deafness syndrome//corneal dystrophy and perceptive deafness//corneal dystrophy and perceptive deafness syndrome//corneal dystrophy with progressive deafness//corneal dystrophy with progressive hearing loss//corneal dystrophy-perceptive hearing loss syndrome//harboyan syndrome//corneal dystrophy and perceptive deafness; cdpd//corneal dystrophy-perceptive deafness syndrome//corneal endothelial dystrophy and perceptive deafness	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"	0	0	36
Corpus callosum agenesis-neuronopathy syndrome	accpn//andermann syndrome//agenesis of corpus callosum with neuronopathy//agenesis of corpus callosum with peripheral neuropathy//agenesis of corpus callosum with polyneuropathy//agenesis of the corpus callosum with peripheral neuropathy//charlevoix disease//corpus callosum, agenesis of, with neuronopathy//corpus callosum agenesis neuronopathy//hmsn/acc//hereditary motor and sensory neuropathy with agenesis of the corpus callosum//polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum//agenesis of the corpus callosum with peripheral neuropathy; accpn//corpus callosum agenesis-neuronopathy syndrome//peripheral neuropathy associated with 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[]=Corpus callosum agenesis-neuronopathy syndrome"	0	0	1089
Costello syndrome	cmems//cstlo//costello syndrome; cstlo//faciocutaneoskeletal syndrome//fcs syndrome//fcs syndromes//faciocutaneoskeletal syndromes//intellectual disability - nasal papillomata//myopathy, congenital, with excess of muscle spindles//syndrome, costello//syndrome, fcs//syndrome, faciocutaneoskeletal//syndromes, fcs//syndromes, faciocutaneoskeletal	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"	0	0	486
Pelviscapular dysplasia	craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature//cousin syndrome//craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature//familial pelvis-scapular dysplasia//pelviscapular dysplasia//pelvic shoulder 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"	0	0	2
Cranio-osteoarthropathy	cranio osteoarthropathy//currarino disease//currarino idiopathic osteoarthropathy//reginato schiapachasse syndrome//reginato-schiapachasse syndrome//cranio-osteoarthropathy	HPGD	HPGD	https://raresource.nih.gov/literature/disease/0001564	0001564	259100	1525	C2678439			15-hydroxyprostaglandin dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cranio-osteoarthropathy"	0	0	4
Craniodiaphyseal dysplasia		SOST	SOST	https://raresource.nih.gov/literature/disease/0001567	0001567	218300	1513	C0410539			sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniodiaphyseal dysplasia"	0	0	35
Craniofacial-deafness-hand syndrome	cdhs//craniofacial deafness hand syndrome//craniofacial-deafness-hand syndrome//craniofacial-hearing loss-hand syndrome//features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss//sommer young wee frye syndrome//sommer-young-wee-frye syndrome//craniofacial-deafness-hand syndrome; cdhs	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"	0	0	57
Craniofrontonasal dysplasia	cfnd//cfns//craniofrontonasal dysostosis//craniofrontonasal dysplasia//craniofrontonasal syndrome//craniofrontonasal syndrome; cfns	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 dysplasia"	0	0	127
Craniometaphyseal dysplasia, autosomal dominant	autosomal dominant craniometaphyseal dysplasia//cmd//cmdd//cmdj//craniometaphyseal dysplasia, jackson type//craniometaphyseal dysplasia jackson type//craniometaphyseal dysplasia autosomal dominant//craniometaphyseal dysplasia dominant type//craniometaphyseal dysplasia//craniometaphyseal dysplasia, autosomal dominant//craniometaphyseal dysplasia, autosomal dominant; cmdd//jackson type	ANKH	ANKH	https://raresource.nih.gov/literature/disease/0001581	0001581		1522	C1852502			ANKH inorganic pyrophosphate transport regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniometaphyseal dysplasia, autosomal dominant"	0	0	2631
Craniometaphyseal dysplasia, autosomal recessive	autosomal recessive craniometaphyseal dysplasia//cmdr//craniometaphyseal dysplasia, autosomal recessive//craniometaphyseal dysplasia, autosomal recessive type//craniometaphyseal dysplasia, autosomal recessive; cmdr	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0001582	0001582		1522	C2931244			gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniometaphyseal dysplasia, autosomal recessive"	0	0	4
Baller-Gerold syndrome	baller-gerold syndrome; bgs//bgs//craniosynostosis with radial defects//craniosynostosis-radial aplasia syndrome//craniosynostosis radial aplasia syndrome//recql4-related disorders	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"	0	0	75
X-linked creatine transporter deficiency	ccds1//cerebral creatine deficiency syndrome 1//creatine deficiency syndrome, x-linked//creatine transporter defect//crtr-d//creatine transporter deficiency//creatine deficiency, x-linked//mental retardation, x-linked, with creatine transport deficiency//mental retardation, x-linked, with seizures, short stature, and midface hypoplasia//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//x-linked creatine deficiency//x-linked creatine deficiency syndrome//x-linked intellectual disability - seizures - short stature - midface hypoplasia//cerebral creatine deficiency syndrome 1; ccds1//cerebral creatine deficiency syndrome type 1//intellectual disability, x-linked with seizures, short stature and midface hypoplasia//intellectual disability, x-linked, with creatine transport deficiency//intellectual disability, x-linked, with seizures, short stature, and midface hypoplasia//mental retardation, x-linked with seizures, short stature and midface hypoplasia	SLC6A8	SLC6A8	https://raresource.nih.gov/literature/disease/0001608	0001608	300352	52503	C1845862			solute carrier family 6 member 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked creatine transporter deficiency"	1	186	137
Crisponi syndrome	ciss//ciss1//cntf receptor-related disorders//crisponi syndrome//crisponi/cold-induced sweating syndrome 1//crisponi/cold-induced sweating syndrome 1; ciss1//ciliary neurotrophic factor receptor-related disorder//cold-induced sweating syndrome//cold-induced sweating syndrome 1//cold-induced sweating syndrome 2//muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death//sohar-crisponi syndrome//sweating, cold-induced//cold-induced sweating syndrome 1; ciss1//cold-induced sweating syndrome type 1	CLCF1;CRLF1	CLCF1;CRLF1	https://raresource.nih.gov/literature/disease/0001611	0001611	601378	1545	C1832409	C536214		cardiotrophin like cytokine factor 1;cytokine receptor like factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crisponi syndrome"	0	0	53
Familial exudative vitreoretinopathy	criswick-schepens syndrome//evr1//exudative vitreoretinopathy, familial, autosomal dominant//exudative vitreoretinopathy//exudative vitreoretinopathy, familial//fevr//fevr - familial exudative vitreoretinopathy//fevr, autosomal dominant//fzd4-related familial exudative vitreoretinopathy, autosomal dominant//familial exudative vitreoretinopathies//retinopathy of prematurity//rop//vitreoretinopathy, familial exudative//exudative vitreoretinopathy 1//exudative vitreoretinopathy 1; evr1//exudative vitreoretinopathy type 1//familial exudative vitreoretinopathy	NDP;LRP5;FZD4;TSPAN12;ZNF408;CTNNB1	NDP;LRP5;FZD4;TSPAN12;ZNF408;CTNNB1	https://raresource.nih.gov/literature/disease/0001613	0001613	605750	891	C0339539	C536382		norrin cystine knot growth factor NDP;LDL receptor related protein 5;frizzled class receptor 4;tetraspanin 12;zinc finger protein 408;catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial exudative vitreoretinopathy"	0	0	8562
Currarino syndrome	currarino triad//currarino syndrome//partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation//sacral agenesis syndrome//sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation//scra1	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 syndrome"	0	0	221
Autosomal dominant cutis laxa	adcl//cutis laxa, autosomal dominant//cutis laxa, dominant type//autosomal dominant cutis laxa	FBLN5;ELN;ALDH18A1	FBLN5;ELN;ALDH18A1	https://raresource.nih.gov/literature/disease/0001639	0001639	616603	90348	C0268350			fibulin 5;elastin;aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant cutis laxa"	0	0	27
Autosomal recessive cutis laxa type 2B	arcl2//arcl2, progeroid type//arcl2b//autosomal recessive cutis laxa type 2//autosomal recessive cutis laxa type 2, progeroid type//cutis laxa with progeroid features//cutis laxa, autosomal recessive, type iib//cutis laxa, autosomal recessive type 2b//pycr1 autosomal recessive cutis laxa type 2//pycr1-related cutis laxa//autosomal recessive cutis laxa type 2 caused by mutation in pycr1//autosomal recessive cutis laxa type 2b//autosomal recessive cutis laxa type iib//cutis laxa, autosomal recessive, type 2b//cutis laxa, autosomal recessive, type iib; arcl2b//progeroid type	PYCR1	PYCR1	https://raresource.nih.gov/literature/disease/0001641	0001641	612940	357064	C2751987			pyrroline-5-carboxylate reductase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cutis laxa type 2B"	0	0	3079
Familial aortic dissection	aat1//aneurysm, thoracic aortic//annuloaortic ectasia//aortic aneurysm, familial thoracic//aortic dissection, familial//cystic medial necrosis//cystic medial necrosis of aorta//cystic medial necrosis of the aorta//erdheim cystic medial necrosis of aorta//erdheim disease//erdheim's cystic medial necrosis//faa1//ftaad//familial taad//familial aortic aneurysm//familial thoracic aortic aneurysm//familial thoracic aortic aneurysm and dissection//familiar thoracic aortic aneurysm//mema//medionecrosis aortae idiopathica cystica//medionecrosis of aorta//mucoid extracellular matrix accumulation//aortic aneurysm, familial thoracic 1; aat1//familial aortic dissection//familial thoracic aortic aneurysm and aortic dissection	MYH11	MYH11	https://raresource.nih.gov/literature/disease/0001654	0001654	607086	229	C0392775			myosin heavy chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial aortic dissection"	0	0	719
DOORS syndrome	autosomal recessive deafness-onychodystrophy syndrome//autosomal recessive hearing loss-onychodystrophy syndrome//brachydactyly due to absence of distal phalanges//digitorenocerebral syndrome//door syndrome//doors//drc syndrome//deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome//deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome//deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome//deafness-onychoosteodystrophy-intellectual disability syndrome//eronen syndrome//hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome//hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome//hearing loss-onychoosteodystrophy-intellectual disability syndrome//deafness onychodystrophy osteodystrophy and intellectual disability syndrome//deafness onychodystrophy osteodystrophy and mental retardation syndrome//deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome//deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome; doors//deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome//deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome; doors	TBC1D24;ATP6V1B2	TBC1D24;ATP6V1B2	https://raresource.nih.gov/literature/disease/0001685	0001685	220500	79500	C0795927			TBC1 domain family member 24;ATPase H+ transporting V1 subunit B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DOORS syndrome"	0	0	61
Deafness-enamel hypoplasia-nail defects syndrome	bilateral sensorineural hearing loss, enamel hypoplasia and nail defects//deafness enamel hypoplasia nail defects//deafness, enamel hypoplasia, nail defect syndrome//hearing loss, sensorineural, with enamel hypoplasia and nail defects//heimler syndrome 1; hmlr1//hmlr1//hearing loss-enamel hypoplasia-nail defects syndrome//heimler syndrome//pbd1c//peroxisome biogenesis disorder 1c//sensorineural hearing loss, enamel hypoplasia, and nail abnormalities//peroxisomal biogenesis disorder 1c	PEX6;PEX1	PEX6;PEX1	https://raresource.nih.gov/literature/disease/0001687	0001687	234580	3220	C1856186	C535994		peroxisomal biogenesis factor 6;peroxisomal biogenesis factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness-enamel hypoplasia-nail defects syndrome"	0	0	599
Isolated growth hormone deficiency type II	autosomal dominant isolated somatotropin deficiency//congenital ighd type ii//congenital isolated gh deficiency type ii//congenital isolated growth hormone deficiency type ii//growth hormone deficiency, isolated, autosomal dominant//growth hormone deficiency, isolated autosomal dominant//ighd 2//ighd ii//ighd2//idiopathic growth hormone deficiency type ii//isolated growth hormone deficiency, type ii//isolated growth hormone deficiency - autosomal dominant//isolated growth hormone deficiency type 2//pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant//pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant//autosomal dominant isolated growth hormone deficiency//autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency//isolated growth hormone deficiency, type 2//isolated growth hormone deficiency type ii//isolated growth hormone deficiency, type ii; ighd2	GH1;POU1F1	GH1;POU1F1	https://raresource.nih.gov/literature/disease/0001696	0001696	173100	231679	C0271567			growth hormone 1;POU class 1 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated growth hormone deficiency type II"	0	0	33
Deafness, autosomal recessive 1a	connexin 26 deafness//deafness, digenic, gjb2/gjb3//deafness, digenic, gjb2/gjb6//dfnb1//dfnb1a//deafness nonsyndromic, connexin 26 linked//deafness, digenic, gjb2-gjb3//deafness, digenic, gjb2-gjb6//gjb2-related deafness//autosomal recessive deafness 1a//autosomal recessive nonsyndromic deafness type 1a//deafness, autosomal recessive 1a//deafness, autosomal recessive 1a; dfnb1a//deafness, autosomal recessive type 1a	GJB2;GJB3;GJB6	GJB2;GJB3;GJB6	https://raresource.nih.gov/literature/disease/0001697	0001697			C2673759			gap junction protein beta 2;gap junction protein beta 3;gap junction protein beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal recessive 1a"	0	0	80
Deafness, autosomal dominant 23	dfna 23//dfna23//dfna23 nonsyndromic hearing loss and deafness//deafness, autosomal dominant nonsyndromic sensorineural 23//six1 autosomal dominant nonsyndromic deafness//autosomal dominant deafness 23//autosomal dominant nonsyndromic deafness 23//autosomal dominant nonsyndromic deafness caused by mutation in six1//autosomal dominant nonsyndromic deafness type 23//deafness, autosomal dominant 23//deafness, autosomal dominant 23; dfna23//deafness, autosomal dominant type 23	SIX1	SIX1	https://raresource.nih.gov/literature/disease/0001708	0001708			C1854594			SIX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 23"	0	0	1
Dentin dysplasia type II	anomalous dysplasia of dentin//coronal dentin dysplasia//dd-ii//dentin dysplasia, shields type ii//dtdp2//dentin dyspalsia, shields type 2//dentin dysplasia, coronal//pulp stones//pulpal dysplasia//dentin dysplasia type ii//dentin dysplasia, shields type 2//dentin dysplasia, type 2//dentin dysplasia, type ii//dentin dysplasia, type ii; dtdp2	DSPP	DSPP	https://raresource.nih.gov/literature/disease/0001806	0001806	125420	99791	C0399380			dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentin dysplasia type II"	0	0	2255
Dentin dysplasia type I	dd-i//dentin dysplasia, shields type i//dentin dysplasia, type i, with extreme microdontia and misshapen teeth//dtdp1//dentin dysplasia, type i//dentin dysplasia, type 1//dentine dysplasia - shield's type i//radicular dentin dysplasia//rootless teeth//radicular dentine dysplasia//dentin dysplasia type i//dentin dysplasia, shields type 1//dentin dysplasia, type i; dtdp1	VPS4B;SSUH2;DSPP	VPS4B;SSUH2;DSPP	https://raresource.nih.gov/literature/disease/0001807	0001807		99789	C0399379	C538215		vacuolar protein sorting 4 homolog B;ssu-2 homolog;dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentin dysplasia type I"	0	0	336
Desbuquois syndrome	cant1 desbuquois dysplasia//dbqd//dbqd1//desbuquois dysplasia 1, kim variant//desbuquois dysplasia, kim variant//desbuquois syndrome//desbuquois dysplasia//desbuquois dysplasia 1//desbuquois dysplasia 1; dbqd1//desbuquois dysplasia caused by mutation in cant1//desbuquois dysplasia type 1//micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification//micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	XYLT1;CANT1	XYLT1;CANT1	https://raresource.nih.gov/literature/disease/0001818	0001818	300881	1425	C0432242	C535943		xylosyltransferase 1;calcium activated nucleotidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desbuquois syndrome"	0	0	63
Desmoid tumor	aggressive fibromatoses//aggressive fibromatosis//desmd//desmoid tumor caused by somatic mutation//desmoid//desmoid disease, hereditary//desmoid disorder, hereditary//desmoid tumors//desmoid tumours//desmoid type fibromatosis//desmoids//fibromatosis, familial infiltrative//fif//familial infiltrative fibromatosis//fibromatoses, aggressive//fibromatosis, aggressive//invasive fibroma//deep fibromatosis//deep fibromatosis/desmoid tumor//desmoid fibromatosis//desmoid tumor//desmoid-type fibromatosis//desmoid/aggressive fibromatosis	CTNNB1;APC	CTNNB1;APC	https://raresource.nih.gov/literature/disease/0001820	0001820	135290	873	C0079218			catenin beta 1;APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmoid tumor"	0	0	2959
Transient neonatal diabetes mellitus	6q24-related diabetes mellitus//chromosome 6-associated transient diabetes mellitus//dmtn//diabetes mellitus, 6q24-related transient neonatal//diabetes mellitus, transient neonatal//tndm//tndm1//diabetes mellitus, transient neonatal, 1//diabetes mellitus, transient neonatal, type 1//transient neonatal diabetes mellitus//transient neonatal diabetes mellitus (disease)	ZFP57;PLAGL1;KCNJ11;ABCC8;HYMAI	ZFP57;PLAGL1;KCNJ11;ABCC8;HYMAI	https://raresource.nih.gov/literature/disease/0001839	0001839	601410	99886	C1832386			ZFP57 zinc finger protein;PLAG1 like zinc finger 1;potassium inwardly rectifying channel subfamily J member 11;ATP binding cassette subfamily C member 8;hydatidiform mole associated and imprinted	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transient neonatal diabetes mellitus"	0	0	205
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	autoimmunity-immunodeficiency syndrome, x-linked//autoimmune enteropathy type 1//autoimmunity-immunodeficiency syndrome x-linked//diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea//diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked//dmsd//enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy//iddm secretory diarrhea syndrome//iddm-secretory diarrhea syndrome//immunodeficiency, polyendocrinopathy, and enteropathy, x-linked, formerly//immunodysregulation, polyendocrinopathy, and enteropathy, x-linked; ipex//ipex//ipex syndrome//islets of langerhans, absence of//immunodysregulation, polyendocrinopathy, and enteropathy, x-linked//immunodysregulation, polyendocrinopathy and enteropathy x-linked//polyendocrinopathy, immune dysfunction, and diarrhea, x-linked//polyendocrinopathy, immune dysfunction and diarrhea x-linked//x linked polyendocrinopathy//x-linked autoimmunity-allergic dysregulation syndrome//xlaad//xpid//immune dysfunction and diarrhea syndrome//immune dysregulation, polyendocrinopathy, and enteropathy x-linked syndrome//immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome//immunodeficiency, polyendocrinopathy, and enteropathy, x-linked	FOXP3	FOXP3	https://raresource.nih.gov/literature/disease/0001850	0001850	304790	37042	C0342288			forkhead box P3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"	0	0	317
Dicarboxylic aminoaciduria	dcbxa//dicarboxylic amino aciduria//dicarboxylic aminoaciduria syndrome//dicarboxylicamino aciduria//dicarboxylicaminoaciduria//glutamate-aspartate transport defect//glutamate and aspartate transport defect//glutamate aspartate transport defect//inborn error of glutamic and aspartate transport//dicarboxylic aminoaciduria//dicarboxylic aminoaciduria; dcbxa	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"	0	0	15
Non-epidermolytic palmoplantar keratoderma	autosomal dominant diffuse palmoplantar keratoderma//autosomal dominant diffuse palmoplantar keratoderma, norrbotten type//bothnian type//diffuse palmoplantar keratoderma//diffuse palmoplantar keratoderma, bothnian type//neppk//norrbotten type//ppkb//palmoplantar keratoderma, bothnian type//thost-unna syndrome//unna-thost syndrome//diffuse nonepidermolytic palmomplantar keratoderma//non-epidermolytic palmoplantar keratoderma//nonepidermolytic palmoplantar keratoderma//palmoplantar keratoderma, bothnian type; ppkb//tylosis	AQP5	AQP5	https://raresource.nih.gov/literature/disease/0001862	0001862	600231	2337	C1833030			aquaporin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-epidermolytic palmoplantar keratoderma"	0	0	154
Hemolytic anemia due to diphosphoglycerate mutase deficiency	bisphosphoglycerate mutase deficiency//bisphosphoglyceromutase deficiency//bpgm deficiency//diphosphoglycerate mutase deficiency of erythrocyte//dpgm deficiency//deficiency of bisphosphoglycerate mutase//deficiency of bisphosphoglycerate synthase//deficiency of diphosphoglycerate mutase//deficiency of glycerate phosphomutase//diphosphoglycerate mutase deficiency//ecyt8//erythrocytosis, familial, 8//diphosphoglycerate phosphatase deficiency//hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	BPGM	https://raresource.nih.gov/literature/disease/0001874	0001874	222800	714				bisphosphoglycerate mutase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to diphosphoglycerate mutase deficiency"	0	0	9
Late-onset distal myopathy, Markesbery-Griggs type	ldb3 myofibrillar myopathy (disease)//late-onset distal myopathy markesbery griggs type//mfm, zasp-related//mfm4//zasp (z-band alternatively spliced pdz motif protein) related myofibrillar myopathy//zasp related myofibrillar myopathy//zasp-related myofibrillar myopathy//late-onset distal myopathy, markesbery-griggs type//myofibrillar myopathy (disease) caused by mutation in ldb3//myofibrillar myopathy 4//myofibrillar myopathy type 4//myopathy, myofibrillar, 4//myopathy, myofibrillar, 4; mfm4//myopathy, myofibrillar, type 4//zaspopathy	LDB3	LDB3	https://raresource.nih.gov/literature/disease/0001886	0001886	609452	98912	C1836155			LIM domain binding 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-onset distal myopathy, Markesbery-Griggs type"	0	0	15
Vocal cord and pharyngeal distal myopathy	distal myopathy 2//distal myopathy with vocal cord weakness//matr3-related distal myopathy//mpd2//myopathy, distal, 2//vcpdm//vocal cord and pharyngeal distal myopathy	MATR3	MATR3	https://raresource.nih.gov/literature/disease/0001887	0001887	606070	600				matrin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vocal cord and pharyngeal distal myopathy"	0	0	8
Donnai-Barrow syndrome	dbs-foar 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 absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria//diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness//diaphragmatic hernia-exomphalos-hypertelorism syndrome//diaphragmatic hernia-hypertelorism-myopia-deafness syndrome//diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome//donnai barrow syndrome//faciooculoacousticorenal syndrome//foar syndrome//facio-oculo-acoustico-renal syndrome//holmes-schepens syndrome//syndrome of ocular and facial anomalies//syndrome of ocular and facial anomalies, telecanthus and deafness//syndrome of ocular and facial anomalies, telecanthus and hearing loss//telecanthus and deafness//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"	0	0	43
Autosomal recessive dopa-responsive dystonia	autosomal recessive infantile parkinsonism//autosomal recessive segawa syndrome//autosomal recessive dopa responsive dystonia//dopa responsive dystonia, autosomal recessive//dopa-responsive dystonia, autosomal recessive//dystonia, dopa-responsive, autosomal recessive//dyt-th//dyt/park-th//dyt5b//dystonia, dopa responsive, autosomal recessive//dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive//parkinsonism, infantile, autosomal recessive//segawa syndrome, autosomal recessive//th-deficient drd//th-deficient dopa-responsive dystonia//tyrosine hydroxylase deficiency//tyrosine hydroxylase-deficient dopa-responsive dystonia//tyrosine hydroxylase deficient dopa responsive dystonia//autosomal recessive dopa-responsive dystonia	TH;TSPOAP1	TH;TSPOAP1	https://raresource.nih.gov/literature/disease/0001902	0001902	605407	101150	C2673535			tyrosine hydroxylase;TSPO associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive dopa-responsive dystonia"	0	0	60
Dopamine beta-hydroxylase deficiency	congenital dopamine beta hydroxylase deficiency//dbh deficiency//dopamine beta-hydroxylase deficiency, congenital//dopamine beta hydroxylase deficiency, congenital//dopamine beta hydroxylase deficiency//noradrenaline deficiency//norepinephrine deficiency//orthyp1//congenital dopamine beta-hydroxylase deficiency//dopamine b-hydroxylase//dopamine beta-hydroxylase deficiency	DBH	DBH	https://raresource.nih.gov/literature/disease/0001903	0001903	223360	230	C0342687	C535600		dopamine beta-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dopamine beta-hydroxylase deficiency"	0	0	86
Subcortical band heterotopia	17-linked subcortical band heterotopia//bh//band heterotopias//dc//dc syndrome//dcx-related subcortical band heterotopia//double cortex//double cortex syndrome//familial band heterotopia//heco//heterotopia, subcortical band//heterotopia, subcortical laminar//heterotopias, subcortical band//heterotopias, subcortical laminar//sbh//sclh//subcortical laminar heterotopia//subcortical band heterotopias//syndrome, double cortex//band heterotopia//band heterotopia of brain//heterotopic cortex//subcortical band heterotopia	DCX;PAFAH1B1;EML1	DCX;PAFAH1B1;EML1	https://raresource.nih.gov/literature/disease/0001904	0001904	607432	99796	C1848201			doublecortin;platelet activating factor acetylhydrolase 1b regulatory subunit 1;EMAP like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Subcortical band heterotopia"	0	0	2185
Familial drusen	dhd//dhrd//doyne honeycomb degeneration of retina//drusen, radial, autosomal dominant//dominant drusen//dominant radial drusen//doyne honeycomb retinal dystrophy//doyne honeycomb retinal dystrophy; dhrd//malattia leventinese//mlvt//disease predisposing to age-related macular degeneration//familial drusen	CFI;CFH;EFEMP1	CFI;CFH;EFEMP1	https://raresource.nih.gov/literature/disease/0001912	0001912	126600	75376	C1852021			complement factor I;complement factor H;EGF containing fibulin extracellular matrix protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial drusen"	0	0	167
Dyschromatosis universalis hereditaria	duh//duh1//dyschromatosis universalis//dyschromatosis universalis hereditaria//dyschromatosis universalis hereditaria 1//dyschromatosis universalis hereditaria 1; duh1	ABCB6	ABCB6	https://raresource.nih.gov/literature/disease/0001996	0001996	615402	241	C1306229			ATP binding cassette subfamily B member 6 (Langereis blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyschromatosis universalis hereditaria"	0	0	79
Dysequilibrium syndrome	autosomal recessive cerebellar ataxia with mental retardation//autosomal recessive cerebellar hypoplasia with cerebral gyral simplification//camrq//camrq syndrome//camrq1//cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1//cerebellar ataxia, congenital, and mental retardation, autosomal recessive//cerebellar hypoplasia, vldlr-associated//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (camrq1)//cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion//cerebellar ataxia - intellectual disability - dysequilibrium syndrome//cerebellar ataxia, intellectual disability, and dysequilibrium//cerebellar ataxia, mental retardation, and dysequilibrium//cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome//cerebellar disorder, nonprogressive, with mental retardation//cerebellar hypoplasia, vldlr associated//chmrq1//des//des - dysequilibrium syndrome//dysequilibrium syndrome//des-vldlr//disequilibrium//dysequilibrium//dysequilibrium syndrome-vldlr//non-progressive cerebellar ataxia - intellectual disability//non-progressive cerebellar ataxia-intellectual disability syndrome//uts//uner tan syndrome//vldlr cerebellar hypoplasia//vldlr dysequilibrium syndrome//vldlrch//vldlr-associated cerebellar hypoplasia//vldlr-ch//cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1//cerebellar ataxia, congenital, and intellectual disability, autosomal recessive//cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1; camrq1//cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1//cerebellar ataxia, mental retardation and dysequlibrium syndrome//cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; camrq1//cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1//dialysis dysequilibrium syndrome//dysequilibrium syndrome caused by mutation in vldlr	ATP8A2;VLDLR;CA8;WDR81;TUBB2B	ATP8A2;VLDLR;CA8;WDR81;TUBB2B	https://raresource.nih.gov/literature/disease/0001998	0001998	615268	1766	C0394006	C535731		ATPase phospholipid transporting 8A2;very low density lipoprotein receptor;carbonic anhydrase 8;WD repeat domain 81;tubulin beta 2B class IIb	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysequilibrium syndrome"	0	0	1392
Congenital dyserythropoietic anemia type I	anemia, congenital dyserythropoietic, type i//anemia, congenital dyserythropoietic, type ia//anemia, dyserythropoietic congenital, type i//anemia, dyserythropoietic, congenital, type i//anemia, dyserythropoietic, congenital type 1//cda i//cda ia//cda type 1//cda type i//cdan1//cdan1-related congenital dyserythropoietic anemia//cdan1a//congenital dyserythropoietic anemia, type i//congenital dyserythropoietic anaemia type 1//congenital dyserythropoietic anemia type 1//dyserythropoietic anemia, congenital, type ia//dyserythropoietic anemia, congenital, type i//dyserythropoietic anemia, congenital type 1//type i congenital dyserythropoietic anemia//anemia, congenital dyserythropoietic, type 1//anemia, congenital dyserythropoietic, type ia; cdan1a//congenital dyserythropoietic anaemia type i	CDAN1;CDIN1	CDAN1;CDIN1	https://raresource.nih.gov/literature/disease/0002000	0002000	615631	98869	C0271933			codanin 1;CDAN1 interacting nuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia type I"	0	0	138
Congenital dyserythropoietic anemia type II	anemia, dyserythropoietic congenital, type ii//anemia, dyserythropoietic, congenital, type ii//anemia, dyserythropoietic, congenital type 2//cda 2//cda ii//cda type 2//cda type ii//cdan2//congenital dyserythropoietic anemia type ii//congenital dyserythropoietic anaemia type 2//congenital dyserythropoietic anemia type 2//congenital dyserythropoietic anemia, type ii//dyserythropoietic anemia, congenital, type ii//dyserythropoietic anemia, hempas type//dyserythropoietic anemia, congenital type 2//hempas//hempas - hereditary erythroblast multinuclearity with positive acid serum test//hempas anemias//hempas anemia//hereditary erythroblastic multinuclearity with positive acidified-serum test//hereditary erythroblast multinuclearity with positive acidified serum//hereditary erythroblastic multinuclearity with positive acidified-serum test'//hereditary erythroblast multinuclearity with positive acid serum test//hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)//sec23b-cdg//anemia, congenital dyserythropoietic, type 2//anemia, congenital dyserythropoietic, type ii//anemia, congenital dyserythropoietic, type ii; cdan2//congenital dyserythropoietic anaemia type ii//dyserythropoietic anemia, congenital, type 2	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"	0	0	212
Congenital dyserythropoietic anemia type III	anemia with multinucleated erythroblasts//anemia, dyserythropoietic congenital, type iii//anemia, dyserythropoietic, congenital, type iii//cda 3//cda iii//cda type 3//cda type iii//cdan3//congenital dyserythropoietic anemia, type iii//congenital dyserythropoietic anaemia type 3//congenital dyserythropoietic anemia type 3//dyserythropoietic anemia, congenital, type iii//dyserythropoietic anemia, congenital type 3//erythroreticulosis, hereditary benign//anaemia with multinucleated erythroblasts//anemia, congenital dyserythropoietic, type iii//anemia, congenital dyserythropoietic, type iii; cdan3//congenital dyserythropoietic anaemia type iii//dyserythropoietic anemia, congenital, type 3//hereditary benign erythroreticulosis	KIF23	KIF23	https://raresource.nih.gov/literature/disease/0002002	0002002	105600	98870	C0271934			kinesin family member 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital dyserythropoietic anemia type III"	0	0	34
Familial dysfibrinogenemia	congenital dysfibrinogenemia//dysfibrinogenaemia//dysfibrinogenemia//dysfibrinogenemia, familial//hypodysfibrinogenemia, congenital//dysfibrinogenemia, congenital//familial dysfibrinogenemia	FGB;FGA;FGG	FGB;FGA;FGG	https://raresource.nih.gov/literature/disease/0002004	0002004	616004	98881	C0272350			fibrinogen beta chain;fibrinogen alpha chain;fibrinogen gamma chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial dysfibrinogenemia"	0	0	507
Dyskeratosis congenita, x-linked	cerebellar hypoplasia with pancytopenia//dkcx//dyskeratosis congenita x-linked//growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia//hhs//hoyeraal-hreidarsson syndrome//x-linked dyskeratosis congenita//zinsser-cole-engman syndrome//dyskeratosis congenita, x-linked//dyskeratosis congenita, x-linked; dkcx	DKC1	DKC1	https://raresource.nih.gov/literature/disease/0002007	0002007		1775	C1846142			dyskerin pseudouridine synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, x-linked"	0	0	819
Dysosteosclerosis	dysosteosclerosis	SLC29A3;TCIRG1;TNFRSF11A	SLC29A3;TCIRG1;TNFRSF11A	https://raresource.nih.gov/literature/disease/0002012	0002012	224300	1782	C0432262			solute carrier family 29 member 3;T cell immune regulator 1, ATPase H+ transporting V0 subunit a3;TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysosteosclerosis"	0	0	50
Dyssegmental dysplasia, Silverman-Handmaker type	anisospondylic camptomicromelic dwarfism, silverman-handmaker type//anisospondylic camptomicromelic dwarfism//anisospondylic camptomicromelic dwarfism silverman-handmaker type//ddsh//dyssegmental dwarfism, silverman-handmaker type//dyssegmental dysplasia, silverman-handmaker type//dyssegmental dwarfism//dyssegmental dwarfism silverman-handmaker type//dyssegmental dysplasia silverman handmaker type//dyssegmental dysplasia silverman-handmaker type//silverman-handmaker type dyssegmental dysplasia//dyssegmental dysplasia, silverman-handmaker type; ddsh	HSPG2	HSPG2	https://raresource.nih.gov/literature/disease/0002026	0002026	224410	1865				heparan sulfate proteoglycan 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyssegmental dysplasia, Silverman-Handmaker type"	0	0	24
Early-onset generalized limb-onset dystonia	(schwalbe-) ziehen-oppenheim disease//childhood torsion disease//dystonia musculorum deformans 1//dyt-tor1a//dyt-tor1a dystonia//dyt1//dyt1 early-onset isolated dystonia//dystonia 1//dystonia 1, torsion, autosomal dominant//dystonia deformans musculorum//dystonia deformans progressiva//dystonia musculorum deformans//dystonia musculorum deformans type 1//dystonia, idiopathic torsion//dystonias, idiopathic torsion//dystonias, torsion//early-onset torsion dystonia//eotd//early onset primary dystonia//early onset torsion dystonia//early-onset generalized torsion dystonia//early-onset primary dystonia//early-onset generalized dystonia//early-onset isolated dystonia//familial torsion dystonia//idiopathic (torsion) dystonia nos//idiopathic torsion dystonia//idiopathic torsion dystonias//idiopathic dystonia dyt1//idiopathic familial dystonia//oppenheim dystonia//oppenheim ziehen disease//oppenheim's dystonia//oppenheim-ziehen disease//primary torsion dystonia//progressive torsion spasm//schwalbe disease//spasm, progressive torsion//torsion disease of childhood//torsion disease, childhood//torsion dystonia, idiopathic//torsion spasm, progressive//torsion dystonia//torsion dystonia 1, autosomal dominant//ziehen-oppenheim disease//dystonia 1, torsion, autosomal dominant; dyt1//early-onset generalized limb-onset dystonia//idiopathic dystonia//torsion dystonia 1//torsion dystonia type 1	TOR1A;EIF2AK2	TOR1A;EIF2AK2	https://raresource.nih.gov/literature/disease/0002027	0002027	602554	256	C3888090			torsin family 1 member A;eukaryotic translation initiation factor 2 alpha kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset generalized limb-onset dystonia"	0	0	898
Primary dystonia, DYT2 type	dystonia musculorum deformans 2//dyt2//dystonia 2, torsion, autosomal recessive//dystonia musculorum deformans type 2//dystonia, torsion, 2, autosomal recessive//hpca dystonic disorder//torsion dystonia 2//torsion dystonia 2, autosomal recessive type//autosomal recessive torsion dystonia 2//dystonia 2, torsion, autosomal recessive; dyt2//dystonic disorder caused by mutation in hpca//primary dystonia, dyt2 type//torsion dystonia type 2	HPCA	HPCA	https://raresource.nih.gov/literature/disease/0002028	0002028	224500	99657				hippocalcin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary dystonia, DYT2 type"	0	0	5
Ear-patella-short stature syndrome	eps//ear, patella, short stature syndrome//mgors1//meier-gorlin syndrome//microtia, absent patellae, micrognathia syndrome//ear-patella-short stature syndrome	CDC45;GMNN;CDC6;ORC4;ORC1;CDT1;ORC6	CDC45;GMNN;CDC6;ORC4;ORC1;CDT1;ORC6	https://raresource.nih.gov/literature/disease/0002033	0002033	224690	2554	C1868684	C538012		cell division cycle 45;geminin DNA replication inhibitor;cell division cycle 6;origin recognition complex subunit 4;origin recognition complex subunit 1;chromatin licensing and DNA replication factor 1;origin recognition complex subunit 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ear-patella-short stature syndrome"	0	0	6591
Autosomal dominant hypohidrotic ectodermal dysplasia	ad-hed//autosomal dominant anhidrotic ectodermal dysplasia//ectd10a//ectodermal dysplasia, hypohidrotic, autosomal dominant//ectodermal dysplasia 3, anhidrotic//ectodermal dysplasia hypohidrotic autosomal dominant//hed//hypohidrotic ectodermal dysplasia autosomal dominant//ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant//ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant; ectd10a	TRAF6;EDARADD;KDF1;EDAR	TRAF6;EDARADD;KDF1;EDAR	https://raresource.nih.gov/literature/disease/0002048	0002048	129490	1810	C0265331			TNF receptor associated factor 6;EDAR associated death domain;keratinocyte differentiation factor 1;ectodysplasin A receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypohidrotic ectodermal dysplasia"	0	0	483
Hidrotic ectodermal dysplasia	autosomal dominant hidrotic ectodermal dysplasia//clouston hidrotic ectodermal dysplasia//clouston syndrome//clouston's hidrotic ectodermal dysplasia//clouston's syndrome//cloustons syndrome//dysplasia, hidrotic ectodermal//dysplasia, hydrotic ectodermal//dysplasias, hidrotic ectodermal//dysplasias, hydrotic ectodermal//ectd2//ectodermal dysplasia 2, clouston type//ectodermal dysplasia, hidrotic, 2, formerly//ectodermal dysplasia, hidrotic, autosomal dominant//ed2//ectodermal dysplasia, hydrotic//ectodermal dysplasias, hydrotic//ectodermal dysplasia 2, hidrotic//ectodermal dysplasia, hidrotic//gjb6//hed//hed2, formerly//hidrotic ectodermal dysplasias//hidrotic ectodermal dysplasia syndrome//hidrotic ectodermal dysplasia, autosomal dominant//hydrotic ectodermal dysplasia//hydrotic ectodermal dysplasias//patel bixler syndrome//syndrome, clouston//syndrome, clouston's//alopecia, dysplastic nails, palmar and plantar hyperkeratosis//ectodermal dysplasia, hidrotic, 2//hidrotic ectodermal dysplasia//palmoplantar hyperkeratosis and alopecia	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"	0	0	25
Autosomal recessive hypohidrotic ectodermal dysplasia	ar-hed//anhidridic ectodermal dysplasia, autosomal recessive//anhidrotic ectodermal dysplasia, autosomal recessive//anhydridic ectodermal dysplasia, autosomal recessive//autosomal recessive anhidrotic ectodermal dysplasia//autosomal recessive anhydrotic ectodermal dysplasia//autosomal recessive hypohidrotic ectodermal dysplasia syndrome//ectodermal dysplasia, anhidrotic, autosomal recessive//ectodermal dysplasia, hypohidrotic, autosomal recessive//ectodermal dysplasia, hypohydrotic, autosomal recessive//hypohidrotic autosomal recessive ectodermal dysplasia//hypohidrotic ectodermal dysplasia autosomal recessive//autosomal recessive hypohidrotic ectodermal dysplasia//hypohidrotic ectodermal dysplasia, autosomal recessive	WNT10A;EDARADD;EDAR;CSTB	WNT10A;EDARADD;EDAR;CSTB	https://raresource.nih.gov/literature/disease/0002057	0002057	618535	248	C0406702	D053360		Wnt family member 10A;EDAR associated death domain;ectodysplasin A receptor;cystatin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive hypohidrotic ectodermal dysplasia"	0	0	18
Ectopia lentis 2, isolated, autosomal recessive	adamtsl4-related eye disorders//autosomal recessive isolated ectopia lentis//ectol2//ectopia lentis, isolated autosomal recessive//autosomal recessive isolated ectopia lentis 2//ectopia lentis 2, isolated, autosomal recessive//ectopia lentis 2, isolated, autosomal recessive; ectol2	ADAMTSL4	ADAMTSL4	https://raresource.nih.gov/literature/disease/0002060	0002060			C3541474			ADAMTS like 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ectopia lentis 2, isolated, autosomal recessive"	0	0	2
Blepharo-cheilo-odontic syndrome	bcd syndrome//bcds//bcds1//blepharocheilodontic syndrome//blepharo-cheilo-dontic syndrome//blepharocheilodontic syndrome 1//cdh1 blepharo-cheilo-odontic syndrome//clefting, ectropion, and conical teeth//clefting - ectropion - conical teeth//clefting, ectropion, conical teeth syndrome//clefting-ectropion-conical teeth syndrome//ectropion, inferior, with cleft lip and/or palate//elschnig syndrome//ectropion inferior - cleft lip and or palate//ectropion inferior cleft lip and or palate//ectropion inferior-cleft lip and/or palate syndrome//elsching syndrome//lagophthalmia with bilateral cleft lip and palate//lagophthalmia - cleft lip and palate//lagophthalmia with bilateral cleft 51p and palate//lagophthalmia-cleft lip and palate syndrome//blepharo-cheilo-odontic syndrome//blepharo-cheilo-odontic syndrome caused by mutation in cdh1//blepharocheilodontic syndrome 1; bcds1//blepharocheilodontic syndrome; bcds//ectropion inferior-cleft lip and or palate syndrome//ectropion, inferior, with cleft 51p and/or palate	CTNND1;CDH1	CTNND1;CDH1	https://raresource.nih.gov/literature/disease/0002071	0002071	617681	1997	C1861536			catenin delta 1;cadherin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharo-cheilo-odontic syndrome"	0	0	25
EEC syndrome	cleft lip-cleft palate-lobster claw deformity syndrome//ecp syndrome//eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate//eec syndrome 3//eec syndrome without cleft lip/palate//eec syndrome caused by mutation in tp63//eec3//ectodermal dysplasia with ectrodactyly and cleft lip or palate//ectrodactyly - ectodermal dysplasia - cleft lip/palate//ectrodactyly and ectodermal dysplasia without cleft lip-palate//ectrodactyly-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-clefting (eec) syndrome//rudiger syndrome//rudiger syndrome 1//rudiger's syndrome//tp63 eec syndrome//walker-clodius syndrome//ectrodactyly and ectodermal dysplasia without cleft lip/palate//ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3//ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; eec3//ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3//ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome//ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3//ectrodactyly-cleft palate syndrome//ectrodactyly-ectodermal dysplasia without clefting syndrome//ectrodactyly-ectodermal dysplasia-cleft syndrome//ectrodactyly-ectodermal dysplasia-clefting syndrome	TP63	TP63	https://raresource.nih.gov/literature/disease/0002076	0002076	604292	1896	C0406704			tumor protein p63	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EEC syndrome"	0	0	260
EEM syndrome	eem (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome//eem syndrome//eems//ectodermal dysplasia-ectrodactyly-macular dystrophy//ectodermal dysplasia - ectrodactyly - macular dystrophy//ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome//ectodermal dysplasia, ectrodactyly, and macular dystrophy//ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome//ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome//alopecia macular degeneration growth retardation//alopecia, macular degeneration, and growth retardation//ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome; eems	CDH3	CDH3	https://raresource.nih.gov/literature/disease/0002078	0002078	225280	1897	C1857041			cadherin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EEM syndrome"	0	0	4412
Vascular Ehlers-Danlos syndrome	arterial-ecchymotic eds//eds iv//eds iv (formerly)//eds type 4//eds type 4 (formerly)//eds4//eds4 (formerly)//edsvasc//ehlers-danlos syndrome, arterial type//ehlers-danlos syndrome, ecchymotic type//ehlers-danlos syndrome, sack-barabas type//ehlers-danlos syndrome, type iv, autosomal dominant//ehlers danlos syndrome, sack-barabas type//ehlers danlos syndrome, arterial type//ehlers danlos syndrome, ecchymotic type//ehlers-danlos syndrome type 4//ehlers-danlos syndrome type 4 (formerly)//ehlers-danlos syndrome type iv//ehlers-danlos syndrome type iv (formerly)//ehlers-danlos syndrome, type iv//ehlers-danlos syndrome, vascular type//ehlers-danlos syndrome, vascular type, autosomal dominant//ehlers-danlos syndrome, vascular type; edsvasc//sack-barabas syndrome//vascular eds//autosomal dominant type iv ehlers-danlos syndrome//veds//vascular ehlers-danlos syndrome	COL3A1	COL3A1	https://raresource.nih.gov/literature/disease/0002082	0002082	130050	286	C0268338			collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vascular Ehlers-Danlos syndrome"	0	0	692
Arthrochalasia Ehlers-Danlos syndrome	arthrochalasis multiplex congenita//arthrochalasia eds//eds vii//eds vii, mutant procollagen type//eds viia//eds viib//eds7a//eds7a (formerly)//eds7b//edsarth1//edsarth2//ehlers-danlos syndrome, type viia, autosomal dominant//ehlers-danlos syndrome type viib//ehlers-danlos syndrome, arthrochalasia type//ehlers-danlos syndrome//ehlers-danlos syndrome type 7//ehlers-danlos syndrome type 7a//ehlers-danlos syndrome type 7a (formerly)//ehlers-danlos syndrome type 7b//ehlers-danlos syndrome, arthrochalasia type, 1//ehlers-danlos syndrome, arthrochalasia type, 1; edsarth1//ehlers-danlos syndrome, arthrochalasia type, 2//ehlers-danlos syndrome, arthrochalasis type//ehlers-danlos syndrome, type vii//ehlers-danlos syndrome, type vii, autosomal dominant//ehlers-danlos syndrome, type viib, autosomal dominant//aeds//arthrochalasia ehlers-danlos syndrome//arthrochalasia type	COL1A2;COL1A1	COL1A2;COL1A1	https://raresource.nih.gov/literature/disease/0002084	0002084	130060	1899	C0268345			collagen type I alpha 2 chain;collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrochalasia Ehlers-Danlos syndrome"	0	0	2950
Classical Ehlers-Danlos syndrome	classic ehlers-danlos syndrome//classical eds//eds 10//eds i//eds i, formerly//eds ii//eds ii, formerly//eds x//eds, classic type//eds, vascular-like type//eds1, formerly//eds10//eds10 (formerly)//eds2, formerly//edscl1//edscl2//ehlers danlos syndrome, mild classic type//ehlers danlos syndrome, mild classic type, formerly//ehlers danlos syndrome, mitis type//ehlers danlos syndrome, mitis type, formerly//ehlers-danlos syndrome, classic type, 1//ehlers-danlos syndrome, dysfibronectinemic type//ehlers-danlos syndrome, gravis type//ehlers-danlos syndrome, gravis type, formerly//ehlers-danlos syndrome, severe classic type//ehlers-danlos syndrome, severe classic type, formerly//ehlers-danlos syndrome, type i, formerly//ehlers-danlos syndrome, type ii, formerly//ehlers-danlos syndrome, type x//ehlers-danlos syndrome, type i//ehlers-danlos syndrome, type ii//ehlers-danlos syndrome classic type//ehlers-danlos syndrome classical type//ehlers-danlos syndrome type 1//ehlers-danlos syndrome type 1 (formerly)//ehlers-danlos syndrome type 10//ehlers-danlos syndrome type 10 (formerly)//ehlers-danlos syndrome type 10 (formerly)//ehlers-danlos syndrome type 2//ehlers-danlos syndrome type 2 (formerly)//ehlers-danlos syndrome type i//ehlers-danlos syndrome type ii//ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality//ehlers-danlos syndrome, mitis type//ehlers-danlos syndrome, classic severe form//ehlers-danlos syndrome, classic type//ehlers-danlos syndrome, classic type, 1; edscl1//ehlers-danlos syndrome, classic type, 2//ehlers-danlos syndrome, classic type, 2; edscl2//ehlers-danlos syndrome, fibronectin-deficient//ehlers-danlos syndrome, fibronectinemic type//ehlers-danlos syndrome, gravis//ehlers-danlos syndrome, mild classic form//ehlers-danlos syndrome, mild classic type//ehlers-danlos syndrome, mitis//ehlers-danlos syndrome, severe classic form//ehlers-danlos syndrome, type 1//ehlers-danlos syndrome, type 10//ehlers-danlos syndrome, type 2//ehlers-danlos syndrome, type x (formerly)//ehlers-danlos syndrome, vascular-like type//fn abnormality//ceds//classical ehlers-danlos syndrome//type i ehlers-danlos syndrome	COL1A1;COL5A2;COL5A1	COL1A1;COL5A2;COL5A1	https://raresource.nih.gov/literature/disease/0002088	0002088	130000	287	C0220679			collagen type I alpha 1 chain;collagen type V alpha 2 chain;collagen type V alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classical Ehlers-Danlos syndrome"	0	0	145
Dermatosparaxis Ehlers-Danlos syndrome	dermatosparaxis//dermatosparaxis eds//eds 7c//eds viic//eds7c//edsderms//ehlers-danlos syndrome, type vii, autosomal recessive//ehlers-danlos syndrome type viic//ehlers-danlos syndrome, dermatosparaxis type//ehlers-danlos syndrome type 7c//ehlers-danlos syndrome type 7c (formerly)//ehlers-danlos syndrome, dermatosparaxis type; edsderms//human dermatosparaxis eds viic//deds//dermatosparaxis ehlers-danlos syndrome	ADAMTSL2;ADAMTS2	ADAMTSL2;ADAMTS2	https://raresource.nih.gov/literature/disease/0002089	0002089	225410	1901	C2700425			ADAMTS like 2;ADAM metallopeptidase with thrombospondin type 1 motif 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dermatosparaxis Ehlers-Danlos syndrome"	0	0	88
Encephalocraniocutaneous lipomatosis	eccl//eccl - encephalocraniocutaneous lipomatosis//fishman syndrome//haberland syndrome//encephalocraniocutaneous lipomatosis//encephalocraniocutaneous lipomatosis; eccl	FGFR1;KRAS	FGFR1;KRAS	https://raresource.nih.gov/literature/disease/0002108	0002108	613001	2396	C0406612	C535736		fibroblast growth factor receptor 1;KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Encephalocraniocutaneous lipomatosis"	0	0	3725
Glycogen storage disease due to muscle beta-enolase deficiency	enolase 3 deficiency//enolase-beta deficiency//gsd 13//gsd xiii//gsd due to muscle beta-enolase deficiency//gsd13//gsdxiii//glycogen storage disease type xiii//glycogen storage disease 13//glycogen storage disease type 13//glycogenosis due to muscle beta-enolase deficiency//glycogenosis type 13//muscle enolase deficiency//muscular enolase deficiency//glycogen storage disease xiii//glycogen storage disease xiii; gsd13//glycogen storage disease due to muscle beta-enolase deficiency	ENO3	ENO3	https://raresource.nih.gov/literature/disease/0002125	0002125	612932	99849	C2752027			enolase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle beta-enolase deficiency"	0	0	6
Epidermolysis bullosa simplex with muscular dystrophy	ebs with muscular dystrophy//ebs-md//ebs5b//ebsmd//epidermolysis bullosa simplex 5b, with muscular dystrophy//epidermolysis bullosa simplex and limb-girdle muscular dystrophy//epidermolysa bullosa simplex and limb girdle muscular dystrophy//epidermolysa bullosa simplex with muscular dystrophy//epidermolysis bullosa simplex with muscular dystrophy//epidermolysis bullosa simplex - limb girdle muscular dystrophy//limb girdle muscular dystrophy with epidermolysis bullosa simplex//limb-girdle muscular dystrophy with epidermolysis bullosa simplex//md-ebs//mdebs//epidermolysis bullosa simplex with muscular dystrophy; ebsmd	PLEC	PLEC	https://raresource.nih.gov/literature/disease/0002137	0002137	226670	257	C2931072			plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex with muscular dystrophy"	0	0	35
Autosomal dominant generalized dystrophic epidermolysis bullosa	albopapuloid dominant dystrophic epidermolysis bullosa//autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types//ddeb//ddeb, pasini and cockayne-touraine types//ddeb, generalized//ddeb-gen//dystrophic epidermolysis bullosa, autosomal dominant//dominant dystrophic epidermolysis bullosa//dominant dystrophic epidermolysis bullosa, generalized//ebdct//ebdd//ebdsc//epidermolysis bullosa dystrophica with subcorneal cleavage//epidermolysis bullosa dystrophica, cockayne-touraine type//epidermolysis bullosa dystrophica, pasini type//epidermolysis bullosa dystrophica, cockayne-touraine type (formerly)//epidermolysis bullosa dystrophica, pasini type (formerly)//epidermolysis bullosa dystrophica, autosomal dominant//generalized ddeb//generalized dominant dystrophic epidermolysis bullosa//autosomal dominant dystrophic epidermolysis bullosa//epidermolysis bullosa dystrophica, autosomal dominant; ddeb	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[]=Autosomal dominant generalized dystrophic epidermolysis bullosa"	0	0	113
Autosomal dominant generalized epidermolysis bullosa simplex, severe form	autosomal dominant generalized ebs//autosomal dominant generalized ebs, severe form//dowling-meara type//dowling-meara type epidermolysis bullosa simplex//ebs, generalized severe//ebs-dm//ebs-gen sev//ebsdm//epidermolysis bullosa herpetiformis, dowling-meara type//epidermolysis bullosa simplex, generalized severe//epidermolysis bullosa simplex//epidermolysis bullosa simplex herpetiformis//epidermolysis bullosa simplex, dowling-meara type//epidermolysis bullosa simplex, herpetiformis//epidermolysis bullosa herpetiformis dowling-meara type//epidermolysis bullosa simplex dowling-meara type//epidermolysis bullosa simplex, dowling-meara type; ebsdm//generalized severe epidermolysis bullosa simplex//severe form	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[]=Autosomal dominant generalized epidermolysis bullosa simplex, severe form"	0	0	591
Localized epidermolysis bullosa simplex	ebs, acral form//ebs-loc//epidermolysis bullosa of hands and feet//epidermolysis bullosa simplex, weber-cockayne type//epidermolysis bullosa simplex//epidermolysis bullosa simplex of palms and soles//epidermolysis bullosa simplex, localized//localized ebs//weber-cockayne syndrome//weber-cockayne type//weber-cockayne type epidermolysis bullosa simplex//epidermolysis bullosa simplex weber-cockayne type//localized epidermolysis bullosa simplex	KRT5;KRT14	KRT5;KRT14	https://raresource.nih.gov/literature/disease/0002146	0002146	131800	79400	C0080333			keratin 5;keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Localized epidermolysis bullosa simplex"	0	0	6387
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	autosomal dominant generalized ebs//autosomal dominant generalized ebs, intermediate form//ebs 2//ebs, generalized//ebs, generalized intermediate//ebs-k//ebs1b//ebss, generalized//epidermolysis bullosa simplex 1b, koebner type, 1b//epidermolysis bullosa simplex, koebner type//epidermolysis bullosa simplex kobner//epidermolysis bullosa simplex, other generalized//epidermolysis bullosa simplex//epidermolysis bullosa simplex, köbner type//epidermolysis bullosa simplex, generalized//epidermolysis bullosa simplex, generalized non-dowling-meara//generalized ebs//generalized ebss//generalized epidermolysis bullosa simplex//kobner disease//koebner epidermolysis bullosa//koebner type//köbner type//epidermolysis bullosa simplex, kobner type//epidermolysis bullosa simplex, generalized intermediate//generalized ebs, non-dowling-meara type//generalized epidermolysis bullosa simplex, non-dowling-meara type//intermediate form	KRT5;KRT14	KRT5;KRT14	https://raresource.nih.gov/literature/disease/0002147	0002147	131900	79399	C0079299	C535961		keratin 5;keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"	0	0	25032
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	ebs-o//ebs-og//ebs5a//ebsog//epidermolysis bullosa simplex 5a, ogna type//epidermolysis bullosa with pyloric atresia//epidermolysis bullosa simplex 1//epidermolysis bullosa simplex of ogna//epidermolysis bullosa simplex, ogna type//plec-related intermediate ebs without extracutaneous involvement//epidermolysis bullosa simplex ogna type//epidermolysis bullosa simplex, ogna type; ebsog	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[]=PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"	0	0	8
Localized dystrophic epidermolysis bullosa, pretibial form	deb, pretibial//deb-pt//dystrophic epidermolysis bullosa, pretibial//epidermolysis bullosa, pretibial//epidermolysis bullosa dystrophica, pretibial//localized deb//localized deb, pretibial form//pretibial deb//pretibial dystrophic epidermolysis bullosa//pretibial epidermolysis bullosa//pretibial form	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0002155	0002155	131850	79410	C0432321			collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Localized dystrophic epidermolysis bullosa, pretibial form"	0	0	37
Juvenile absence epilepsy	absence epilepsy, juvenile//childhood absence epilepsy//eja1//epilepsy, juvenile absence, susceptibility to, 1; eja1//epilepsy juvenile absence//epilepsy, juvenile absence//jae//jae1//epilepsy, juvenile absence, susceptibility to, 1//epilepsy, juvenile absence, susceptibility to, type 1//juvenile absence epilepsy//susceptibility to juvenile absence epilepsy 1	EFHC1	EFHC1	https://raresource.nih.gov/literature/disease/0002162	0002162	607631	1941	C2930918	C535495		EF-hand domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile absence epilepsy"	0	0	436
Progressive myoclonic epilepsy type 3	ceroid lipofuscinosis, neuronal, 14//cln14//cln14 disease//epilepsy, progressive myoclonic, 3, with or without intracellular inclusions//epilepsy, progressive myoclonic, 3, without intracellular inclusions//epm 3//epm3//epilepsy progressive myoclonic type 3//epilepsy, progressive myoclonic 3//kctd7 progressive myoclonic epilepsy//pme type 3//progressive myoclonic epilepsy 3//progressive myoclonic epilepsy due to kctd7 deficiency//progressive myoclonus epilepsy due to kctd7 deficiency//progressive myoclonus epilepsy type 3//epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; epm3//neuronal ceroid lipofuscinosis 14//progressive myoclonic epilepsy caused by mutation in kctd7//progressive myoclonic epilepsy type 3	KCTD7	KCTD7	https://raresource.nih.gov/literature/disease/0002167	0002167	611726	263516	C2673257			potassium channel tetramerization domain containing 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 3"	0	0	4
Myoclonic-astatic epilepsy	doose syndrome//emas//epilepsy with myoclonic-astatic seizures//epilepsy with myoclonic-atonic seizures//epilepsy with myoclono-astatic crisis//mae//myoclonic astatic epilepsy//myoclonic atonic epilepsy//myoclonic-astatic epilepsy in early childhood//myoclonic-astastic epilepsy	AP2M1;NEXMIF;CHD2;SLC2A1;SCN1A;SLC6A1;SYNGAP1	AP2M1;NEXMIF;CHD2;SLC2A1;SCN1A;SLC6A1;SYNGAP1	https://raresource.nih.gov/literature/disease/0002169	0002169	615369	1942	C0393702			adaptor related protein complex 2 subunit mu 1;neurite extension and migration factor;chromodomain helicase DNA binding protein 2;solute carrier family 2 member 1;sodium voltage-gated channel alpha subunit 1;solute carrier family 6 member 1;synaptic Ras GTPase activating protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonic-astatic epilepsy"	0	0	270
Multiple epiphyseal dysplasia type 1	comp multiple epiphyseal dysplasia (disease)//comp-related multiple epiphyseal dysplasia//edm1//epiphyseal dysplasia, fairbank type//epiphyseal dysplasia, ribbing type//epiphyseal dysplasia multiple 1//med1//multiple epiphyseal dysplasia, comp-related//multiple epiphyseal dysplasia 1//multiple epiphyseal dysplasia comp-related//multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related//polyepiphyseal dysplasia type 1//epiphyseal dysplasia, multiple, 1//epiphyseal dysplasia, multiple, 1; edm1//epiphyseal dysplasia, multiple, type 1//multiple epiphyseal dysplasia (disease) caused by mutation in comp//multiple epiphyseal dysplasia type 1	COMP	COMP	https://raresource.nih.gov/literature/disease/0002180	0002180	132400	93308	C1838280	C535501		cartilage oligomeric matrix protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple epiphyseal dysplasia type 1"	0	0	17
Complement component 5 deficiency	c5 deficiency//erythroderma desquamativum of infancy//generalized erythroderma, diarrhea, and failure to thrive//leiner-moussous desquamative erythroderma//erythroderma desquamativa of leiner//erythroderma desquamativum	C5	C5	https://raresource.nih.gov/literature/disease/0002191	0002191			C0343047			complement C5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 5 deficiency"	0	0	97
Ethylmalonic encephalopathy	ee//eme//epema syndrome//encephalopathy, petechiae, and ethylmalonic aciduria//encephalopathy, ethylmalonic//syndrome of encephalopathy, petechiae, and ethylmalonic aciduria//encephalopathy, ethylmalonic; ee//ethylmalonic encephalopathy	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"	0	0	1093
Exostoses, multiple, type i	aclases, diaphyseal//aclasis, diaphyseal//bessel-hagen disease//cartilaginous exostoses, multiple//cartilaginous exostosis, multiple//chondrodysplasia, hereditary deforming//chondrodysplasias, hereditary deforming//diaphyseal aclasis//deforming chondrodysplasia, hereditary//deforming chondrodysplasias, hereditary//diaphyseal aclases//ext//ext1//ext1 exostoses, multiple//exostoses, familial//exostoses, hereditary multiple//exostoses, multiple//exostoses, multiple cartilaginous//exostoses, multiple, type i//exostoses, multiple, type 1//exostosis, familial//exostosis, hereditary multiple//exostosis, multiple//exostosis, multiple cartilaginous//familial exostoses//familial exostosis//hmo//hereditary deforming chondrodysplasia//hereditary deforming chondrodysplasias//hereditary exostoses, multiple//hereditary multiple exostoses//hereditary multiple exostosis//hereditary multiple osteochondromas//multiple cartilaginous exostoses//multiple osteochondromas//multiple cartilaginous exostosis//multiple exostoses//multiple exostoses, hereditary//multiple exostosis//multiple exostosis, hereditary//multiple hereditary exostoses//multiple osteochondroma//multiple osteochondromatosis//multiple congenital exostosis//multiple exostosis syndromes//osteochondromatosis//osteochondroma, multiple//osteochondromas, multiple//osteochondromatosis syndrome//exostoses, multiple caused by mutation in ext1//hereditary multiple exostoses 1//hereditary multiple exostoses 2//hereditary multiple exostoses 3//multiple ostechondromas//osteochondromatosis syndrome (disorder) [ambiguous]	EXT1	EXT1	https://raresource.nih.gov/literature/disease/0002204	0002204			C0015306		Q78.6	exostosin glycosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exostoses, multiple, type i"	0	0	1127
Exostoses, multiple, type ii	exostoses, multiple, type ii//ext2//ext2 gene//ext2 exostoses, multiple//exostoses, multiple, type 2//hereditary multiple osteochondromatosis, type ii//exostoses (multiple) 2 gene//exostoses, multiple caused by mutation in ext2	EXT2	EXT2	https://raresource.nih.gov/literature/disease/0002205	0002205			C1851413			exostosin glycosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exostoses, multiple, type ii"	0	0	1
Exostoses, multiple, type iii	ext3//exostoses, multiple, type 3//exostoses, multiple, type iii//exostoses, multiple, type iii; ext3	EXT3	EXT3	https://raresource.nih.gov/literature/disease/0002206	0002206			C1838420			Exostoses, multiple, 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exostoses, multiple, type iii"	0	0	None
Congenital factor V deficiency	ac globulin deficiency//deficiencies, factor 5//deficiencies, factor five//deficiencies, factor v//deficiencies, labile factor//deficiency, factor 5//deficiency, factor five//deficiency, factor v//deficiency, labile factor//disease, owren//disease, owren's//factor 5 deficiencies//factor 5 deficiency//factor five deficiencies//factor five deficiency//factor v deficiencies//factor v deficiency//hereditary factor v deficiency//hereditary factor v deficiency disease//hereditary hypoproaccelerinaemia//hereditary hypoproaccelerinemia//labile factor deficiency//labile factor deficiencies//owren parahemophilia//owren disease//owren's disease//owrens disease//parahemophilia//parahemophilia, owren//parahemophilias//proaccelerin deficiency//congenital factor v deficiency//deficiency, labile	F5	F5	https://raresource.nih.gov/literature/disease/0002237	0002237	227400	326	C0015499			coagulation factor V	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor V deficiency"	0	0	369
Congenital factor VII deficiency	congenital proconvertin deficiency//f7 deficiency//factor 7 deficiency//factor vii deficiency//hypoproconvertinemia//congenital factor vii deficiency//deficiency, stable	F7	F7	https://raresource.nih.gov/literature/disease/0002238	0002238	227500	327	C0015503			coagulation factor VII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor VII deficiency"	0	0	675
Tetralogy of Fallot	fallot tetralogy//fallot's tetralogy//fallots tetralogy//subpulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy//tof//tof - tetralogy of fallot//tetralogy, fallot//tetralogy, fallot's//tetralogy, fallots//tetrology of fallot//ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle//ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle.//tetralogy of fallot; tof//tetralogy of fallot	GJA5;GATA6;NKX2-6;FLT4;GATA4;CITED2;GDF1;TBX1;GATA5;ZFPM2;KDR;NKX2-5;JAG1	GJA5;GATA6;NKX2-6;FLT4;GATA4;CITED2;GDF1;TBX1;GATA5;ZFPM2;KDR;NKX2-5;JAG1	https://raresource.nih.gov/literature/disease/0002245	0002245	187500	3303	C0039685	D013771		gap junction protein alpha 5;GATA binding protein 6;NK2 homeobox 6;fms related receptor tyrosine kinase 4;GATA binding protein 4;Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2;growth differentiation factor 1;T-box transcription factor 1;GATA binding protein 5;zinc finger protein, FOG family member 2;kinase insert domain receptor;NK2 homeobox 5;jagged canonical Notch ligand 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tetralogy of Fallot"	0	0	10549
Familial thoracic aortic aneurysm and aortic dissection	familial taad//familial non-syndromic thoracic aortic aneurysm and aortic dissection	SMAD3;SMAD2;SMAD4;MAT2A;MYH11;MYLK;PRKG1;TGFB2;TGFB3;TGFBR1;TGFBR2;ACTA2;MFAP5;ELN;FBN1;FOXE3;HEY2;LOX	SMAD3;SMAD2;SMAD4;MAT2A;MYH11;MYLK;PRKG1;TGFB2;TGFB3;TGFBR1;TGFBR2;ACTA2;MFAP5;ELN;FBN1;FOXE3;HEY2;LOX	https://raresource.nih.gov/literature/disease/0002249	0002249	607086	91387				SMAD family member 3;SMAD family member 2;SMAD family member 4;methionine adenosyltransferase 2A;myosin heavy chain 11;myosin light chain kinase;protein kinase cGMP-dependent 1;transforming growth factor beta 2;transforming growth factor beta 3;transforming growth factor beta receptor 1;transforming growth factor beta receptor 2;actin alpha 2, smooth muscle;microfibril associated protein 5;elastin;fibrillin 1;forkhead box E3;hes related family bHLH transcription factor with YRPW motif 2;lysyl oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial thoracic aortic aneurysm and aortic dissection"	0	0	26
Band heterotopia		EML1	EML1	https://raresource.nih.gov/literature/disease/0002250	0002250			C4284594			EMAP like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Band heterotopia"	0	0	367
Autosomal dominant epilepsy with auditory features	adeaf//adlte//adpeaf//autosomal dominant lateral temporal lobe epilepsy//autosomal dominant partial epilepsy with auditory features//epilepsy, lateral temporal lobe, autosomal dominant//epilepsy, partial, with auditory features//etl1//partial epilepsy with auditory aura//partial epilepsy with auditory features//autosomal dominant epilepsy with auditory features//epilepsy, familial temporal lobe 1//epilepsy, familial temporal lobe, 1//epilepsy, familial temporal lobe, 1; etl1//epilepsy, familial temporal lobe, type 1//familial temporal lobe epilepsy 1//familial temporal lobe epilepsy type 1	LGI1;DEPDC5;RELN	LGI1;DEPDC5;RELN	https://raresource.nih.gov/literature/disease/0002257	0002257	616436	101046	C1838062			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"	0	0	163
Familial porencephaly	familial porencephalic white matter disease//familial porencephaly//hereditary porencephaly	COL4A2;COL4A1	COL4A2;COL4A1	https://raresource.nih.gov/literature/disease/0002258	0002258	175780	99810	C1867983	C536850		collagen type IV alpha 2 chain;collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial porencephaly"	0	0	3987
Fanconi-Bickel syndrome	bickel-fanconi glycogenosis//fanconi syndrome with intestinal malabsorption and galactose intolerance//fbs//fanconi bickel syndrome//fanconi-bickel disease//fanconi-bickel syndrome; fbs//glut2 deficiency//glycogen storage disease xi//glycogenosis, fanconi type//gsd due to glut2 deficiency//gsd type 11//gsd type xi//glycogen storage disease due to glut2 deficiency//glycogen storage disease type 11//glycogen storage disease type xi//glycogenosis fanconi type//glycogenosis 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//glycogen storage disease 11//glycogenosis fanconi exact	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"	0	0	263
Gollop-Wolfgang complex	bifid femur - monodactylous ectrodactyly//bifid femur co-occurrent with monodactylous ectrodactyly//bifid femur with monodactylous ectrodactyly//bifid femur-monodactylous ectrodactyly syndrome//femur, unilateral bifid, with monodactylous ectrodactyly//femur bifid with monodactylous ectrodactyly//gollop-wolfgang complex//gwc//gollop wolfgang complex	BHLHA9	BHLHA9	https://raresource.nih.gov/literature/disease/0002285	0002285	228250	1986	C1856789			basic helix-loop-helix family member a9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gollop-Wolfgang complex"	0	0	26
Fetal and neonatal alloimmune thrombocytopenia	fnait//nait	ITGA2B;ITGA2;GP1BB;GP1BA;CD109;ITGB3	ITGA2B;ITGA2;GP1BB;GP1BA;CD109;ITGB3	https://raresource.nih.gov/literature/disease/0002295	0002295		853	C3854603			integrin subunit alpha 2b;integrin subunit alpha 2;glycoprotein Ib platelet subunit beta;glycoprotein Ib platelet subunit alpha;CD109 molecule;integrin subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal and neonatal alloimmune thrombocytopenia"	0	0	426
FG syndrome type 1	fg syndrome//fg syndrome 1//fg syndrome caused by mutation in med12//fgs//fgs1//keller syndrome//med12 fg syndrome//med12-related disorders//mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum//mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum//oks//opitz-kaveggia syndrome//intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum	MED12	MED12	https://raresource.nih.gov/literature/disease/0002317	0002317	305450	93932	C0220769	C537923		mediator complex subunit 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FG syndrome type 1"	0	0	462
Fibrochondrogenesis	col11a1 fibrochondrogenesis//fbcg1//fibrochondrogenesis//fibrochondrogenesis 1//fibrochondrogenesis 1; fbcg1//fibrochondrogenesis caused by mutation in col11a1//fibrochondrogenesis type 1	COL11A1;COL11A2	COL11A1;COL11A2	https://raresource.nih.gov/literature/disease/0002321	0002321	614524	2021	C0265282			collagen type XI alpha 1 chain;collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrochondrogenesis"	0	0	5514
Birt-Hogg-Dubé syndrome	bhd//bhd syndrome//birt hogg dube syndrome//birt-hogg-dube syndrome//birt-hogg-dube syndrome; bhd//birt-hogg-dubé syndrome//fibrofolliculomas with trichodiscomas and acrochordons//familial multiple fibrofolliculoma//hornstein-knickenberg syndrome//hornstein-birt-hogg-dubé syndrome//multiple fibrofolliculoma familial//multiple fibrofolliculomas//multiple fibrofolliculomata	FLCN	FLCN	https://raresource.nih.gov/literature/disease/0002322	0002322	135150	122	C0346010	D058249		folliculin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Birt-Hogg-Dubé syndrome"	0	0	7240
Gingival fibromatosis-hypertrichosis syndrome	cght//chromosome 17q24.2-q24.3 deletion syndrome//chromosome 17q24.2-q24.3 duplication syndrome//congenital generalized hypertrichosis terminalis//extreme hirsutism with gingival fibromatosis//fibromatosis, gingival, with hypertrichosis//gingival fibromatosis with hypertrichosis//htc3//hypertrichosis terminalis, generalized, with or without gingival hyperplasia//hereditary gingival fibromatosis with hypertrichosis//hirsutism-congenital gingival hyperplasia syndrome//hypertrichose avec ou sans hyperplasie gingivale//hypertrichosis terminalis, generalized, with gingival hyperplasia//hypertrichosis with or without gingival hyperplasia//microdeletion 17q24.2-q24.3 syndrome//microduplication 17q24.2-q24.3 syndrome//gingival fibromatosis-hypertrichosis syndrome//hypertrichosis, congenital generalized, with or without gingival hyperplasia//hypertrichosis, congenital generalized, with or without gingival hyperplasia; htc3	ABCA5	ABCA5	https://raresource.nih.gov/literature/disease/0002324	0002324	135400	2026				ATP binding cassette subfamily A member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gingival fibromatosis-hypertrichosis syndrome"	0	0	2517
Fibrosarcoma	fibrocytic tumor//fibrosarcoma (disease)//fibrosarcomas//fibrosarcoma//fibrosarcoma (excluding infantile fibrosarcoma)//fibrosarcoma - not infantile//fibrosarcoma of soft tissue//fibrosarcoma, malignant//fibrous tissue neoplasm//malignant fibromatous neoplasm	NTRK3;ETV6	NTRK3;ETV6	https://raresource.nih.gov/literature/disease/0002327	0002327		2030	C0016057	D005354		neurotrophic receptor tyrosine kinase 3;ETS variant transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrosarcoma"	0	0	8033
Absence of fingerprints-congenital milia syndrome	adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities//absence of dermatoglyphics - congenital milia//absence of dermatoglyphics congenital milia//absence of dermatoglyphics-congenital milia syndrome//absence of fingerprints congenital milia//baird syndrome//basan syndrome//basan-baird syndrome//ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease//ectodermal dysplasia absent dermatoglyphics//absence of fingerprints-congenital milia syndrome	SMARCAD1	SMARCAD1	https://raresource.nih.gov/literature/disease/0002336	0002336	129200	1658	C0406707			SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Absence of fingerprints-congenital milia syndrome"	0	0	9
AGel amyloidosis	amyloid cranial neuropathy with lattice corneal dystrophy//amyloidosis due to mutant gelsolin//amyloidosis v//amyloidosis, meretoja type//amyloidosis 5//amyloidosis, finnish type//cdl2//cerebral amyloid angiopathy, gsn-related//corneal dystrophy, lattice type ii//familial amyloid polyneuropathy type 4//familial amyloid polyneuropathy type iv//familial amyloidosis//familial amyloidosis, finnish type//finnish type//finnish type amyloidosis//gelsolin amyloidosis//hereditary amyloidosis//hereditary amyloidosis, finnish type//hereditary gelsolin amyloidosis//lattice corneal dystrophy, type ii//lcd2//lattice corneal dystrophy associated with familial systemic amyloidosis//lattice corneal dystrophy type ii//lattice corneal dystrophy type ii finnish//lattice dystrophy of the cornea with hereditary generalized amyloidosis//meretoja type amyloidosis//meretoja's syndrome//corneal dystrophy, lattice type 2//lattice corneal dystrophy, type 2//meretoja syndrome	GSN	GSN	https://raresource.nih.gov/literature/disease/0002339	0002339	105120	85448	C0936273			gelsolin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AGel amyloidosis"	0	0	599
Follicular lymphoma	brill - symmers' disease//brill symmers disease//brill-symmers disease//disease, brill-symmers//follicular lymphoma, somatic//follicular large cell lymphoma//follicular large-cell lymphoma//follicular large-cell lymphomas//follicular lymphoma//follicular lymphoma, giant//follicular lymphoma, grade 1//follicular lymphoma, grade 2//follicular lymphoma, grade 3//follicular lymphomas//follicular lymphomas, giant//follicular mixed cell lymphoma//follicular mixed-cell lymphoma//follicular mixed-cell lymphomas//follicular low grade b-cell lymphoma//follicular lymphosarcoma//germinoblastoma, follicular//giant follicular lymphoma//giant follicular lymphomas//histiocytic lymphoma, nodular//histiocytic lymphomas, nodular//large cell lymphoma, follicular//large lymphoid lymphoma, nodular//large-cell lymphoma, follicular//large-cell lymphomas, follicular//lymphocytic lymphoma, nodular, poorly differentiated//lymphocytic lymphoma, nodular, poorly-differentiated//lymphoma, follicular large cell//lymphoma, follicular large-cell//lymphoma, follicular mixed-cell//lymphoma, follicular, grade 1//lymphoma, follicular, grade 2//lymphoma, follicular, grade 3//lymphoma, follicular, mixed cell//lymphoma, follicular, mixed lymphocytic-histiocytic//lymphoma, follicular, mixed small and large lymphoid//lymphoma, follicular, small and large cleaved cell//lymphoma, follicular, small and large cleaved-cell//lymphoma, giant follicular//lymphoma, histiocytic, nodular//lymphoma, large cell, follicular//lymphoma, large lymphoid, nodular//lymphoma, large-cell, follicular//lymphoma, lymphocytic, nodular, poorly differentiated//lymphoma, lymphocytic, nodular, poorly-differentiated//lymphoma, mixed-cell, follicular//lymphoma, nodular//lymphoma, nodular histiocytic//lymphoma, nodular, large follicular center cell//lymphoma, nodular, large follicular center-cell//lymphoma, nodular, mixed lymphocytic histiocytic//lymphoma, nodular, mixed lymphocytic-histiocytic//lymphoma, nodular, mixed small and large cell//lymphoma, small cleaved cell, follicular//lymphoma, small cleaved-cell, follicular//lymphoma, small follicular center cell//lymphoma, small follicular center-cell//lymphoma, small lymphoid, follicular//lymphoma, follicular//lymphomas, follicular//lymphomas, follicular large-cell//lymphomas, follicular mixed-cell//lymphomas, giant follicular//lymphomas, nodular//lymphomas, nodular histiocytic//malignant lymphoma, centroblastic-centrocytic, follicular//malignant lymphoma, follicle center//malignant lymphoma, follicle center, follicular//malignant lymphoma, follicular//malignant lymphoma, lymphocytic, nodular//malignant lymphoma, nodular//mixed cell lymphoma, follicular//mixed-cell lymphoma, follicular//mixed-cell lymphomas, follicular//nodular histiocytic lymphoma//nodular histiocytic lymphomas//nodular large follicular center cell lymphoma//nodular large follicular center-cell lymphoma//nodular lymphoma//nodular lymphomas//nodular lymphosarcoma//nodular malignant lymphoma//small cleaved cell lymphoma, follicular//small cleaved-cell lymphoma, follicular//small follicular center cell lymphoma//small follicular center-cell lymphoma//follicle center lymphoma//follicular centre cell lymphoma//follicular non-hodgkin lymphoma//follicular non-hodgkin's lymphoma//lymphoma, follicular centre cell//lymphoma, follicular, malignant	BCL6;IGH;HLA-DRB1;BCL2	BCL6;IGH;HLA-DRB1;BCL2	https://raresource.nih.gov/literature/disease/0002356	0002356	613024	545	C0024301	D008224		BCL6 transcription repressor;immunoglobulin heavy locus;major histocompatibility complex, class II, DR beta 1;BCL2 apoptosis regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Follicular lymphoma"	0	0	7872
Cardiospondylocarpofacial syndrome	cscf//congenital heart disease, deafness, and skeletal malformations//forney robinson pascoe syndrome//forney syndrome//forney-robinson-pascoe syndrome//mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones//mitral regurgitation - deafness - skeletal anomalies//mitral regurgitation-deafness-skeletal anomalies syndrome//mitral regurgitation-hearing loss-skeletal anomalies syndrome//cardiospondylocarpofacial syndrome//cardiospondylocarpofacial syndrome; cscf	MAP3K7	MAP3K7	https://raresource.nih.gov/literature/disease/0002362	0002362	157800	3238	C2931461			mitogen-activated protein kinase kinase kinase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiospondylocarpofacial syndrome"	0	0	14
Frasier syndrome	syndrome, frasier	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"	0	0	129
FRAXE intellectual disability	fraxe//fraxe mental retardation syndrome//fraxe syndromes//fraxe intellectual disability syndrome//fraxe syndrome//fragile x-f mental retardation syndrome//fragile xe syndrome//fragile site, folic acid type//intellectual developmental disorder, x-linked 109//intellectual disability associated with fragile site fraxe//mental retardation, x-linked 109//mental retardation, x-linked, associated with fragile site fraxe//mrx109//mar (x) syndrome//syndrome, fraxe//syndromes, fraxe//x-linked intellectual disability associated with fragile site fraxe//x-linked mental retardation associated with fragile site fraxe//xlid109//intellectual disability, x-linked, associated with fragile site fraxe	AFF2	AFF2	https://raresource.nih.gov/literature/disease/0002378	0002378	309548	100973				AF4/FMR2 family member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FRAXE intellectual disability"	0	0	31
Fructose-1,6-bisphosphatase deficiency	baker-winegrad disease//deficiencies, fructose-1,6-bisphosphatase//deficiencies, fructose-1,6-diphosphatase//deficiencies, fructose-biphosphatase//deficiencies, fructosediphosphatase//deficiency, fructose-1,6-bisphosphatase//deficiency, fructose-1,6-diphosphatase//deficiency, fructose-biphosphatase//deficiency, fructosediphosphatase//fbp1d//fbpase deficiency//fructose 1,6 bisphosphatase deficiency//fructose 1,6 diphosphatase deficiency//fructose biphosphatase deficiency//fructose-1,6-bisphosphatase deficiencies//fructose-1,6-diphosphatase deficiencies//fructose-1,6-diphosphatase deficiency//fructose-biphosphatase deficiencies//fructose-biphosphatase deficiency//fructosediphosphatase deficiencies//fructosediphosphatase deficiency//hereditary fructose-1,6-phosphatase deficiency//fructose 1 phosphate aldolase deficiency//fructose-1,6-bisphosphatase deficiency//fructose-1,6-bisphosphatase deficiency; fbp1d	FBP1	FBP1	https://raresource.nih.gov/literature/disease/0002400	0002400	229700	348	C0016756			fructose-bisphosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fructose-1,6-bisphosphatase deficiency"	0	0	114
Fuhrmann syndrome	bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies//fuhrmann syndrome//fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly//fibular hypoplasia//fibular hypoplasia or aplasia - femoral bowing - 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"	0	0	38
Galactokinase deficiency	deficiencies, galk//deficiencies, galactokinase//deficiencies, hereditary galactokinase//deficiency disease, galactokinase//deficiency of galactokinase//deficiency, galk//deficiency, galactokinase//deficiency, hereditary galactokinase//galac2//galactokinase deficiency//galactosemia ii//galk//galk - galactokinase deficiency//galk deficiency//galk deficiencies//galk-d//galactokinase deficiencies//galactokinase deficiencies, hereditary//galactokinase deficiency disease//galactokinase deficiency diseases//galactokinase deficiency, hereditary//galactokinase deficiency galactosemia//galactosemia - galactokinase deficiency//galactosemia 2//galactosemia 2s//galactosemia type 2//hereditary galactokinase deficiencies//hereditary galactokinase deficiency	GALK1	GALK1	https://raresource.nih.gov/literature/disease/0002422	0002422	230200	79237	C0268155	C535999		galactokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Galactokinase deficiency"	0	0	100
Cystathioninuria	cth - cystathioninuria//cystathionase deficiency//cystathione gamma - lyase deficiency//cystathione gamma-lyase deficiency syndrome//cystathionine gamma-lyase deficiency//cystathionine gamma-lyase deficiency syndrome//deficiency of cystathionase//deficiency of cysteine desulfhydrase//deficiency of cystine desulfhydrase//deficiency of homoserine deaminase//gamma-cystathionase deficiency//cystathioninuria//cystathioninuria (disease)	CTH	CTH	https://raresource.nih.gov/literature/disease/0002428	0002428	219500	212	C0268616	C535408		cystathionine gamma-lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystathioninuria"	0	0	107
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	adhalin deficiency, secondary//autosomal recessive limb-girdle muscular dystrophy type 2c//dmda//dmda1//duchenne-like muscular dystrophy, autosomal recessive, type 1//gamma-sarcoglycanopathy//gamma-sarcoglycan-related limb-girdle muscular dystrophy r5//gamma-sarcoglycan-related lgmd r5//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//limb-girdle muscular dystrophy with 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//sarcoglycan, gamma, deficiency of//scarmd//severe childhood autosomal recessive muscular dystrophy, north african type//sgcg autosomal recessive limb-girdle muscular dystrophy//autosomal recessive duchenne-like muscular dystrophy type 1//autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcg//deficiency of sarcoglycan gamma//muscular dystrophy, limb-girdle, type 2c; lgmd2c//severe childhood autosomal recessive muscular dystrophy north african type	SGCG	SGCG	https://raresource.nih.gov/literature/disease/0002429	0002429	253700	353	C0410173			sarcoglycan gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"	0	0	107
GM1 gangliosidosis type 3	adult gm1 gangliosidosis//adult-onset gm1 gangliosidosis//beta-galactosidase deficiency type 3//gangliosidosis, generalized gm1, adult type//gangliosidosis, generalized gm1, chronic type//gangliosidosis, generalized gm1, type 3//gangliosidosis, generalized gm1, type iii//gm1-gangliosidosis, type 3//gm1-gangliosidosis, type iii//gm1g3//gangliosidosis gm1 type 3//gangliosidosis generalized gm1 chronic type	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"	0	0	12
X-linked Alport syndrome-diffuse leiomyomatosis	alport syndrome and diffuse leiomyomatosis//ats-dl//alport syndrome with diffuse leiomyomatosis//chromosome xq22.3 centromeric deletion syndrome//dl-ats//diffuse leiomyomatosis with alport syndrome//diffuse leiomyomatosis in alport syndrome//leiomyomatosis, esophageal and vulval, with nephropathy//x-linked diffuse leiomyomatosis-alport syndrome//xq22.3 microdeletion syndrome//leiomyomatosis, diffuse, with alport syndrome//leiomyomatosis, diffuse, with alport syndrome; dl-ats	COL4A5;COL4A6	COL4A5;COL4A6	https://raresource.nih.gov/literature/disease/0002432	0002432	150700	1018				collagen type IV alpha 5 chain;collagen type IV alpha 6 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked Alport syndrome-diffuse leiomyomatosis"	0	0	3
Gaucher disease type 1	acid beta-glucosidase deficiency//chronic gaucher disease//deficiencies, gba//deficiency, gba//disease, chronic gaucher//disease, non-neuronopathic gaucher//gaucher disease, noncerebral juvenile//gba deficiency//gba deficiencies//gd 1//gd i//gd1//glucocerebrosidase deficiency//gaucher disease, chronic//gaucher disease, non neuronopathic form//gaucher disease, non-neuronopathic//gaucher disease, non-neuronopathic form//gaucher disease type i//gaucher disease, type 1//gaucher disease, type i//gaucher's disease type i//gaucher's disease, type 1//gaucher's disease, type i//glucocerebrosidase deficiency type i//non neuronopathic gaucher disease//non-neuronopathic gaucher disease//non-cerebral juvenile gaucher disease//noncerebral juvenile gaucher's disease//type 1 gaucher disease	SCARB2	SCARB2	https://raresource.nih.gov/literature/disease/0002441	0002441	230800	77259	C1961835			scavenger receptor class B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gaucher disease type 1"	0	0	481
Geleophysic dysplasia	gphysd//geleophysic dwarfism//geleophysic dwarfism syndrome//geleophysic dysplasia	LTBP3;FBN1;ADAMTSL2	LTBP3;FBN1;ADAMTSL2	https://raresource.nih.gov/literature/disease/0002449	0002449	614185	2623	C3489726	C537677		latent transforming growth factor beta binding protein 3;fibrillin 1;ADAMTS like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Geleophysic dysplasia"	0	0	67
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	gemss//gemss (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome//gemss syndrome//glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome//glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome//glaucoma, ectopia, microspherophakia, stiff joints, short stature syndrome//glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome//mesodermal dysmorphodystrophy, congenital//spherophakia-brachymorphia syndrome//weill-marchesani syndrome, autosomal dominant//wms2//weill-marchesani syndrome 2//weill-marchesani syndrome 2; wms2//weill-marchesani syndrome type 2//glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0002452	0002452	608328	2084	C2931588			fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"	0	0	8
Large congenital melanocytic nevus	bathing trunk nevus//congenital giant pigmented nevus//congenital hairy nevus//congenital pigmented nevus//gmn//gphn//giant congenital melanocytic nevus//giant congenital nevus//giant hairy nevus//giant pigmented hairy nevus//giant pigmented nevus//lcmn//giant pigmented nevus of skin//giant pigmented nevus of the skin//large congenital melanocytic nevus	NRAS;MC1R	NRAS;MC1R	https://raresource.nih.gov/literature/disease/0002469	0002469	137550	626	C1318558			NRAS proto-oncogene, GTPase;melanocortin 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Large congenital melanocytic nevus"	0	0	223
Bernard-Soulier syndrome	bdplt1//bernard-soulier syndrome, type a1//bernard-soulier syndrome, type b//bernard-soulier syndrome, type c//bleeding disorder, platelet-type, 1//bss//bernard - soulier thrombopathy//bernard soulier syndrome//bernard-soulier syndrome; bss//deficiency of platelet glycoprotein 1b//glycoprotein ib, platelet, deficiency of//giant platelet syndrome//giant platelet disease//hemorrhagic dystrophic thrombocytopenia//hemorrhagiparous thrombocytic dystrophy//macrothrombocytopenia, familial bernard-soulier type//platelet glycoprotein ib deficiency//platelet glycoprotein 1b, deficiency of//platelet syndromes, giant//syndrome, bernard-soulier//syndrome, giant platelet//syndromes, giant platelet//thrombopathy, bernard-soulier//von willebrand factor receptor deficiency	GP1BB;GP1BA;GP9	GP1BB;GP1BA;GP9	https://raresource.nih.gov/literature/disease/0002470	0002470	153670	274	C0005129	D001606		glycoprotein Ib platelet subunit beta;glycoprotein Ib platelet subunit alpha;glycoprotein IX platelet	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bernard-Soulier syndrome"	0	0	916
Fibromatosis, gingival, 2	fibromatosis, gingival, hereditary, 2//fibromatosis gingival, hereditary, 2//ggf2//gingf2//gingival fibromatosis, 2//hgf2//hereditary gingival fibromatosis, 2//fibromatosis, gingival, 2//fibromatosis, gingival, 2; gingf2	GINGF2	GINGF2	https://raresource.nih.gov/literature/disease/0002474	0002474			C1854181			Fibromatosis, gingival, 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 2"	0	0	None
Fibromatosis, gingival, 4	fibromatosis, gingival, hereditary, 4//fibromatosis gingival, hereditary, 4//ggf4//gingf4//gingival fibromatosis, 4//hgf4//hereditary gingival fibromatosis, 4//fibromatosis, gingival, 4//fibromatosis, gingival, 4; gingf4	GINGF4	GINGF4	https://raresource.nih.gov/literature/disease/0002475	0002475			C1970245			Fibromatosis, gingival, 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 4"	0	0	49871
Glanzmann thrombasthenia	bdplt2//bleeding disorder, platelet-type, 2//deficiency of gp 2b 3a complex//diacyclothrombopathia 2b 3a//glanzmann thrombasthenia//glycoprotein complex iib-iiia deficiency//gp iib iiia complex, deficiency of//gp iib-iiia complex deficiency//gp iib-iiia complex, deficiency of//gt//gt1//glanzmann thrombasthenia, type a//glanzmann thrombasthenia type a//glanzmann thrombasthenia; gt//glycoprotein complex iib iiia, deficiency of//glycoprotein complex iib-iiia, deficiency of//glycoprotein iib/iiia defect//platelet fibrinogen receptor deficiency//platelet glycoprotein iib-iiia deficiency//platelet fibrinogen receptor, deficiency of//platelet glycoprotein 2b 3a deficiency//platelet glycoprotein 2b-3a deficiency//platelet glycoprotein iib iiia deficiency//thrombasthenia of glanzmann and naegeli//thrombasthenia, glanzmann//thrombasthenias//thrombocytasthenia//deficiency of gp iib-iiia complex//deficiency of glycoprotein complex iib-iiia//deficiency of platelet fibrinogen receptor//platelet-type bleeding disorder 2//thrombasthenia	ITGB3;ITGA2B	ITGB3;ITGA2B	https://raresource.nih.gov/literature/disease/0002478	0002478	273800	849	C0040015			integrin subunit beta 3;integrin subunit alpha 2b	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glanzmann thrombasthenia"	0	0	1201
Congenital glaucoma	axenfeld's anomaly//buphthalmos//buphthalmia//buphthalmus//glaucoma, congenital//glaucoma, primary open angle, adult-onset//glaucoma, primary open angle, juvenile-onset//glc3//glc3a//glaucoma of childhood//glaucoma of newborn//hydrophthalmos//keratoglobus, congenital, with glaucoma//macrocornea with glaucoma//macrophthalmos in congenital glaucoma//megalocornea with glaucoma//primary congenital glaucoma 3a//primary congenital glaucoma//congenital glaucoma//glaucoma 3, primary congenital, a//glaucoma 3, primary congenital, a; glc3a//glaucoma 3, primary congenital, type a//simple buphthalmos//von hippel anomaly	CYP1B1;LTBP2;MYOC;TEK	CYP1B1;LTBP2;MYOC;TEK	https://raresource.nih.gov/literature/disease/0002485	0002485	613085	98976	C0020302			cytochrome P450 family 1 subfamily B member 1;latent transforming growth factor beta binding protein 2;myocilin;TEK receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital glaucoma"	0	0	2242
Glaucoma 3, primary infantile, b	cyp1b1//glaucoma, primary congenital, type b//glc3 type b//glc3, type b//glc3b//glaucoma 3 primary infantile b//glaucoma primary congenita type 3b//glaucoma, primary congenital, type 3b//primary congenital glaucoma//primary congenital glaucoma type 3b//glaucoma 3, primary infantile, b//glaucoma 3, primary infantile, b; glc3b	GLC3B	GLC3B	https://raresource.nih.gov/literature/disease/0002490	0002490		156005	C1832977			Glaucoma 3, primary infantile, B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 3, primary infantile, b"	0	0	679
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis//glomerulonephritis with sparse hair and telangiectases//hlt-renal defect syndrome//hltrs//telangiectatic membranoproliferative glomerulonephritis//hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome//hypotrichosis-lymphedema-telangiectasia-renal defect syndrome//hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; hltrs	SOX18	SOX18	https://raresource.nih.gov/literature/disease/0002492	0002492			C1841989			SRY-box transcription factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	0	0	2722
Familial glucocorticoid deficiency	acth resistance//adrenal unresponsiveness to acth//familial glucocorticoid deficiency 1//fgd1//gccd//gccd1//glucocorticoid deficiency 1//mc2r familial glucocorticoid deficiency//familial glucocorticoid deficiency//familial glucocorticoid deficiency caused by mutation in mc2r//glucocorticoid deficiency 1; gccd1	NNT;MC2R;TXNRD2;STAR;MRAP	NNT;MC2R;TXNRD2;STAR;MRAP	https://raresource.nih.gov/literature/disease/0002498	0002498	609197	361				nicotinamide nucleotide transhydrogenase;melanocortin 2 receptor;thioredoxin reductase 2;steroidogenic acute regulatory protein;melanocortin 2 receptor accessory protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial glucocorticoid deficiency"	0	0	147
Generalized glucocorticoid resistance syndrome	body composition, beneficial//cortisol resistance from glucocorticoid receptor defect//gccr//gccr deficiency//gcr deficiency//glucocorticoid receptor deficiency//grl deficiency//glucocorticoid resistance//pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance//glucocorticoid resistance, generalized//glucocorticoid resistance, generalized; gccr	NR3C1	NR3C1	https://raresource.nih.gov/literature/disease/0002499	0002499	615962	786	C1841972			nuclear receptor subfamily 3 group C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized glucocorticoid resistance syndrome"	0	0	155
Glycogen storage disease due to hepatic glycogen synthase deficiency	gsd 0a//gsd due to hepatic glycogen synthase deficiency//gsd type 0a//gsd0a//glycogen storage disease type 0, liver//glycogen storage disease due to liver glycogen synthase deficiency//glycogen storage disease type 0//glycogen storage disease type 0a//glycogenosis type 0a//hypoglycemia with deficiency of glycogen synthetase in the liver//hepatic glycogen synthase deficiency//liver glycogen storage disease 0//liver glycogen synthase deficiency//liver gsd 0//glycogen storage disease 0, liver//glycogen storage disease 0, liver; gsd0a//glycogen storage disease due to glycogen synthase deficiency of liver//glycogen storage disease due to hepatic glycogen synthase deficiency//glycogen synthase deficiency//liver glycogen storage disease due to glycogen synthase deficiency	GYS2	GYS2	https://raresource.nih.gov/literature/disease/0002513	0002513	240600	2089	C1855861			glycogen synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to hepatic glycogen synthase deficiency"	0	0	27
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	g6p deficiency type ib//g6p deficiency type b//g6p translocase deficiency//g6pt deficiency//glucose-6-phosphate transport defect//glycogen storage disease ic//glycogen storage disease id//gsd ib//gsd ic//gsd due to g6p deficiency type 1b//gsd due to g6p deficiency type ib//gsd due to g6p deficiency type b//gsd due to g6pt deficiency//gsd type 1 non a//gsd type 1b//gsd type ib//gsd1b//gsd1c//gsd1d//gsdib//glycogen storage disease ib//glycogen storage disease due to g6p deficiency type ib//glycogen storage disease due to g6p deficiency type b//glycogen storage disease type 1b//glycogen storage disease type ib//glycogenosis due to glucose-6-phosphatase deficiency type 1b//glycogenosis due to glucose-6-phosphatase deficiency type b//glycogenosis due to glucose-6-phosphatase transport defect//glycogenosis due to glucose-6-phosphatase transport defect type ib//glycogenosis type 1b//glycogenosis type ib//phosphate transport defect//glycogen storage disease ib; gsd1b//glycogen storage disease ic; gsd1c//glycogen storage disease type i non-a//glycogen storage disease type ic	SLC37A4	SLC37A4	https://raresource.nih.gov/literature/disease/0002515	0002515	232220	79259	C0268146			solute carrier family 37 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"	0	0	341
Perrault syndrome	gonadal dysgenesis, xx type, with deafness//gonadal dysgenesis xx type deafness//gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance//gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance//gonadal dysgenesis, xx type//hsd17b4 perrault syndrome//ovarian dysgenesis with sensorineural deafness//prlts1//perrault syndrome 1//perrault syndrome 1; prlts1//perrault syndrome caused by mutation in hsd17b4//perrault syndrome type 1//xx gonodal dysgenesis - deafness//xx gonodal dysgenesis-deafness syndrome//xx gonodal dysgenesis-hearing loss syndrome//gonadal dysgenesis, 20 type, with deafness	LARS2;TWNK;CLPP;ERAL1;HSD17B4;HARS2	LARS2;TWNK;CLPP;ERAL1;HSD17B4;HARS2	https://raresource.nih.gov/literature/disease/0002542	0002542	616138	2855	C0685838			leucyl-tRNA synthetase 2, mitochondrial;twinkle mtDNA helicase;caseinolytic mitochondrial matrix peptidase proteolytic subunit;Era like 12S mitochondrial rRNA chaperone 1;hydroxysteroid 17-beta dehydrogenase 4;histidyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perrault syndrome"	0	0	91
Gordon syndrome	arthrogryposis multiplex congenita, distal, type iia//arthrogryposis distal type 3//arthrogryposis multiplex congenita distal type 2a//arthrogryposis multiplex congenita, distal, type 2a//arthrogryposis, distal, type 3//camptodactyly, cleft palate, and clubfoot//camptodactyly - cleft palate- clubfoot//camptodactyly-cleft palate-clubfoot syndrome//da3//distal arthrogryposis type 3//distal arthrogryposis type iia//distal arthrogryposis, type 3//gordon syndrome//gordon's syndrome//arthrogryposis, distal, type 3; da3	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"	0	0	157
Gray platelet syndrome	alpha storage pool deficiency//bdplt4//bleeding disorder, platelet-type, 4//deficient alpha granule syndrome//gps//gray platelet syndromes//grey platelet syndrome//grey platelet syndromes//marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins//platelet alpha-granule deficiency//platelet syndromes, grey//platelet alpha granule deficiency//platelet alpha-granule deficiencies//platelet granule defect//syndrome, gray platelet//syndrome, grey platelet//syndromes, gray platelet//alpha-granule deficiencies, platelet//alpha-granule deficiency, platelet//gray platelet syndrome//gray platelet syndrome; gps//platelet-type bleeding disorder 4	NBEAL2	NBEAL2	https://raresource.nih.gov/literature/disease/0002562	0002562	139090	721	C2717750	D055652		neurobeachin like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gray platelet syndrome"	0	0	357
Griscelli syndrome type 1	griscelli syndrome with neurologic impairment//griscelli syndrome, cutaneous and neurologic type//gs1//griscelli syndrome, type 1//griscelli disease type 1//griscelli syndrome with neurological impairment//griscelli syndrome, cutaneous and neurological type//griscelli syndrome, type 1; gs1//griscelli-prunic)ras syndrome type 1//griscelli-prunieras syndrome type 1//griscelli-pruniéras syndrome type 1//hypopigmentation - neurologic impairment//hypopigmentation-neurologic impairment syndrome//partial albinism and primary neurologic disease without hemophagocytic syndrome//pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts	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"	0	0	305
Myhre syndrome	facial dysmorphism - intellectual deficit - short stature - hearing loss//facial dysmorphism - intellectual disability - short stature - hearing loss//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//growth-mental deficiency syndrome of myhre//growth mental deficiency syndrome of myhre//laps syndrome//laryngotracheal stenosis, arthropathy, prognathism, and short stature//laryngotracheal stenosis, arthropathy, prognathism and short stature//laryngotracheal stenosis, progressive, with short stature and arthropathy//myhre syndrome; myhrs//myhrs	SMAD4	SMAD4	https://raresource.nih.gov/literature/disease/0002572	0002572	139210	2588	C0796081			SMAD family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myhre syndrome"	0	0	75
Guanidinoacetate methyltransferase deficiency	ccds2//cerebral creatine deficiency syndrome 2//creatine deficiency syndrome due to gamt deficiency//cerebral creatine deficiency//deficiency of guanidinoacetate methyltransferase//gamt deficiency//guanidinoacetate methyltransferase deficiency//cerebral creatine deficiency syndrome 2; ccds2//cerebral creatine deficiency syndrome type 2//disorder of guanidinoacetate n-methyltransferase activity//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[]=Guanidinoacetate methyltransferase deficiency"	0	0	139
Osteopetrosis, autosomal recessive 1	albers-schonberg disease, autosomal recessive//autosomal recessive osteopetrosis type 1//marble bones, autosomal recessive//marble bones autosomal recessive//optb1//osteopetrosis, infantile malignant 1//osteopetrosis//osteopetrosis autosomal recessive 1//osteopetrosis infantile malignant 1//tcirg1 autosomal recessive malignant osteopetrosis//tcirg1 autosomal recessive osteopetrosis//albers-schonberg disease//autosomal recessive//autosomal recessive albers-schonberg disease//autosomal recessive malignant osteopetrosis caused by mutation in tcirg1//autosomal recessive osteopetrosis 1//autosomal recessive osteopetrosis caused by mutation in tcirg1//infantile malignant 1//infantile malignant osteopetrosis 1//marble bones//osteopetrosis, autosomal recessive 1//osteopetrosis, autosomal recessive 1; optb1//osteopetrosis, autosomal recessive type 1	TCIRG1	TCIRG1	https://raresource.nih.gov/literature/disease/0002579	0002579			C1850127			T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis, autosomal recessive 1"	0	0	2417
Hand-foot-genital syndrome	hand-foot-uterus syndrome//hfg//hfg syndrome//hfgs//hfu//hfu syndrome//hand foot genital syndrome//hand foot uterus syndrome//hand-foot-genital syndrome//hand-foot-genital syndrome; hfg	HOXA13	HOXA13	https://raresource.nih.gov/literature/disease/0002594	0002594	140000	2438	C1841679			homeobox A13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hand-foot-genital syndrome"	0	0	60
Walker-Warburg syndrome	cmd, fukuyama//cod md syndrome//cod-md syndrome//cod-md syndromes//cerebromuscular dystrophy, fukuyama type//cerebroocular dysplasia muscular dystrophy syndrome//cerebroocular dysplasia-muscular dystrophy syndrome//cerebroocular dysgenesis//chemke syndrome//congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type a1//congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a1//disease, pomt1-related muscle-eye-brain//dystrophy, fukuyama muscular//fktn-related walker-warburg syndrome//fktn-related walker-warburg syndromes//fukuyama cmd//fukuyama congenital muscular dystrophy//fukuyama muscular dystrophy//fukuyama syndrome//fukuyama type congenital muscular dystrophy//hard syndrome//hard syndromes//hard +/- e syndrome//hydrocephalus - agyria - retinal dysplasia//hydrocephalus, agyria, and retinal dysplasia//hydrocephalus, agyria and retinal dysplasia//hydrocephalus-agyria-retinal dysplasia syndrome//lgmd2k//mddga1//meb (muscle-eye-brain) syndrome//muscle eye brain disease//muscle eye brain disease, pomt1 related//muscle-eye-brain disease//muscle-eye-brain disease, pomt1-related//muscle-eye-brain diseases//muscle-eye-brain diseases, pomt1-related//muscular dystrophy due to defective glycosylation of dystroglycan 4a//muscular dystrophy, congenital, fukuyama type//muscular dystrophy, fukuyama//muscular dystrophy, limb-girdle, autosomal recessive, with mental retardation//muscular dystrophy, limb-girdle, type 2k//muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1//pomt1-related muscle-eye-brain disease//pomt1-related muscle-eye-brain diseases//pagon syndrome//pagon syndromes//syndrome, cod-md//syndrome, chemke//syndrome, fktn-related walker-warburg//syndrome, fukuyama//syndrome, hard//syndrome, pagon//syndrome, walker-warburg//syndrome, warburg//wws//walker warburg syndrome//walker warburg syndrome, fktn related//walker-warburg syndrome, fktn-related//walker-warburg muscular dystrophy//warburg syndrome//alpha dystroglycanopathies//alpha-dystroglycanopathies	FKRP;DAG1;POMK;POMT1;B3GALNT2;RXYLT1;B4GAT1;POMGNT1;POMT2;COL4A1;POMGNT2;FKTN;CRPPA;LARGE1	FKRP;DAG1;POMK;POMT1;B3GALNT2;RXYLT1;B4GAT1;POMGNT1;POMT2;COL4A1;POMGNT2;FKTN;CRPPA;LARGE1	https://raresource.nih.gov/literature/disease/0002599	0002599	613154	899	C0265221	D058494		fukutin related protein;dystroglycan 1;protein O-mannose kinase;protein O-mannosyltransferase 1;beta-1,3-N-acetylgalactosaminyltransferase 2;ribitol xylosyltransferase 1;beta-1,4-glucuronyltransferase 1;protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-);protein O-mannosyltransferase 2;collagen type IV alpha 1 chain;protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-);fukutin;CDP-L-ribitol pyrophosphorylase A;LARGE xylosyl- and glucuronyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Walker-Warburg syndrome"	0	0	762
Progressive familial heart block, type ib	heart block progressive familial type 1b//pfhb1b//pfhbib//progressive familial heart block type 1b//trpm4 progressive familial heart block//progressive familial heart block caused by mutation in trpm4//progressive familial heart block, type 1b//progressive familial heart block, type ib//progressive familial heart block, type ib; pfhb1b	TRPM4	TRPM4	https://raresource.nih.gov/literature/disease/0002610	0002610		871	C1970298			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"	0	0	None
Trismus-pseudocamptodactyly syndrome	arthrogryposis distal type 7//arthrogryposis, distal, type 7//da7//distal arthrogryposis type 7//dutch-kentucky syndrome//hecht syndrome//hecht-beals syndrome//mouth, inability to open completely, and short finger-flexor tendons//trismus-pseudocamptodactyly syndrome//trismus pseudocamptodactyly syndrome//trismus-pseudocamptodactyly//arthrogryposis, distal, type 7; da7	MYH8	MYH8	https://raresource.nih.gov/literature/disease/0002621	0002621	158300	3377	C0265226			myosin heavy chain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trismus-pseudocamptodactyly syndrome"	0	0	36
Isolated hemihyperplasia	asymmetric limb hypertrophy//asymmetric overgrowth//congenital hemihypertrophy//hemi-3 syndrome//hemihyperplasia//hemihypertrophy, isolated//hhp//hemi 3 syndrome//hemicorporal hypertrophy//hemihypertrophy//ih//isolated hemihypertrophy//hemihyperplasia, isolated//hemihyperplasia, isolated; ih//isolated hemihyperplasia	IGF2;H19;KCNQ1OT1	IGF2;H19;KCNQ1OT1	https://raresource.nih.gov/literature/disease/0002630	0002630	235000	2128	C1856184			insulin like growth factor 2;H19 imprinted maternally expressed transcript;KCNQ1 opposite strand/antisense transcript 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated hemihyperplasia"	0	0	3464
Hemimegalencephaly	hemimegalencephalies//macrencephaly//macrocephalies, unilateral//macrocephaly, unilateral//megalencephalies, unilateral//megalencephaly, unilateral//unilateral macrocephalies//unilateral macrocephaly//unilateral megalencephalies//unilateral megalencephaly//hemimegalencephaly	AKT3;PIK3CA	AKT3;PIK3CA	https://raresource.nih.gov/literature/disease/0002637	0002637		99802	C0431391			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"	0	0	583
Hemoglobin C disease	c disease, hemoglobin//c diseases, hemoglobin//hb c disease//hb-c disease//hemoglobin c diseases//hemoglobin c-c disease//hemoglobin-c disease//hemoglobin-c diseases//homozygous for hb c//hemoglobin c disease	HBB	HBB	https://raresource.nih.gov/literature/disease/0002640	0002640		2132	C0019021	D006445		hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin C disease"	0	0	90
Hemoglobin E disease	beta thalassemia/hemoglobin e disease//hb-e disease//hbe disease//hemoglobin e-e disease//homozygous for hb e//hemoglobin e disease	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"	0	0	137
Tyrosinemia type 1	deficiencies, fumarylacetoacetase//deficiency disease, fumarylacetoacetase//deficiency diseases, fumarylacetoacetase//deficiency of beta-diketonase//deficiency of fumarylacetoacetase//deficiency, fumarylacetoacetase//disease, fumarylacetoacetase deficiency//diseases, fumarylacetoacetase deficiency//fah deficiency//fumarylacetoacetase deficiency//fumarylacetoacetase deficiencies//fumarylacetoacetase deficiency disease//fumarylacetoacetase deficiency diseases//fumarylacetoacetate hydrolase deficiency//hepatorenal tyrosinemia//hepatorenal tyrosinemias//hereditary tyrosinemia, type i//hypertyrosinemia, type i//hypertyrosinemias, type i//tyrsn1//type i hypertyrosinemia//type i hypertyrosinemias//type i tyrosinemias//tyrosinemia type 1s//tyrosinemia type i//tyrosinemia, hepatorenal//tyrosinemias, hepatorenal//tyrosinemias, type i//type i tyrosinemia//tyrosinemia type 1//tyrosinemia, type 1//tyrosinemia, type i//tyrosinemia, type i; 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 1"	0	0	432
Hereditary methemoglobinemia	autosomal recessive methemoglobinemia//congenital methemoglobinemia//hereditary methemoglobinemia	CYB5R3;CYB5A	CYB5R3;CYB5A	https://raresource.nih.gov/literature/disease/0002659	0002659	250800	621	C0272087			cytochrome b5 reductase 3;cytochrome b5 type A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary methemoglobinemia"	0	0	200
Congenital high-molecular-weight kininogen deficiency	fitzgerald trait//flaujeac trait//fitzgerald trait kininogen deficiency, total, included//flaujeac factor deficiency//flaujeac trait, included//hmwk//hmwk deficiency//high molecular weight kininogen deficiency//high-molecular-weight kininogen deficiency, congenital//kininogen deficiency, high molecular weight//kininogen deficiency, high molecular weight and low molecular weight//kininogen deficiency, total//williams trait//williams trait, included//congenital high-molecular-weight kininogen deficiency//kininogen deficiency, high molecular weight and low molecular weight, included	KNG1	KNG1	https://raresource.nih.gov/literature/disease/0002684	0002684	228960	483	C0272340			kininogen 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital high-molecular-weight kininogen deficiency"	0	0	26
Hip dysplasia, Beukes type	beukes familial hip dysplasia//bfhd//bhd//beukes hip dysplasia//beukes hip dysplasia; bhd//beukes type hip dysplasia//cilliers-beighton syndrome//hip dysplasia, beukes type//hip dysplasia beukes type//osteoarthropathy, premature degenerative, of hip//premature degenerative osteoarthropathy of the hip	UFSP2	UFSP2	https://raresource.nih.gov/literature/disease/0002690	0002690	142669	2114	C1840572			UFM1 specific peptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hip dysplasia, Beukes type"	0	0	280
Hirschsprung disease-ganglioneuroblastoma syndrome	hirschsprung disease ganglioneuroblastoma//nblst2//neuroblastoma with hirschsprung disease//neuroblastoma, susceptibility to, 2//neuroblastoma, susceptibility to, 2; nblst2//neuroblastoma, susceptibility to, type 2//susceptibility to neuroblastoma 2	PHOX2B	PHOX2B	https://raresource.nih.gov/literature/disease/0002695	0002695		2151	C2751683	C538119		paired like homeobox 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hirschsprung disease-ganglioneuroblastoma syndrome"	0	0	None
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency//3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency//3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency; hmgcs2d//hmg coa synthetase deficiency//hmg-coa synthase deficiency//hmgcs2 deficiency//hmgcs2d//mitochondrial hmg-coa synthase deficiency	HMGCS2	HMGCS2	https://raresource.nih.gov/literature/disease/0002712	0002712	605911	35701	C2751532			3-hydroxy-3-methylglutaryl-CoA synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	0	0	18
Holocarboxylase synthetase deficiency	biotin-(propionyl-coa-carboxylase) ligase deficiency//carboxylase deficiency, multiple, neonatal form//deficiencies, hlcs//deficiencies, holocarboxylase synthetase//deficiency, hlcs//deficiency, holocarboxylase synthetase//deficiency, multiple carboxylase, neonatal form//early onset biotin responsive multiple carboxylase deficiency//early onset combined carboxylase deficiency//early-onset biotin-responsive multiple carboxylase deficiency//early-onset combined carboxylase deficiency//early-onset multiple carboxylase deficiency//hlcs deficiency//hlcs deficiencies//holocarboxylase synthetase deficiencies//infantile multiple carboxylase deficiency//multiple carboxylase deficiency, early onset//multiple carboxylase deficiency, neonatal form//multiple carboxylase deficiency//multiple carboxylase deficiency - neonatal onset//neonatal holocarboxylase synthetase deficiency//neonatal multiple carboxylase deficiency//holocarboxylase synthase deficiency//holocarboxylase synthetase 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"	0	0	187
Hartsfield syndrome	holoprosencephaly-ectrodactyly-cleft lip/palate syndrome	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0002725	0002725	615465	2117	C1845146			fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hartsfield syndrome"	0	0	18
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	5,10 alpha methylenetetrahydro-folate reductase deficiency//5,10-alpha-methylenetetrahydro-folate reductase deficiency//homocysteinemia due to methylenetetrahydro-folate reductase deficiency//homocysteinuria due to methylenetetrahydro-folate reductase deficiency//homocystinuria due to mthfr deficiency//methylenetetrahydrofolate reductase deficiency//mthfr deficiency//mthfr deficiency, thermolabile type//methylene tetrahydrofolate reductase deficiency//methylenetetrahydro-folate reductase deficiency//homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity//homocystinuria due to methylene tetrahydrofolate reductase deficiency	MTHFR	MTHFR	https://raresource.nih.gov/literature/disease/0002734	0002734	236250	395	C1856061			methylenetetrahydrofolate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Homocystinuria due to methylene tetrahydrofolate reductase deficiency"	0	0	222
Hyperimmunoglobulinemia D with periodic fever	hids//hyperimmunoglobulinemia d and periodic fever syndrome//hyper igd syndrome//hyper igd syndromes//hyper-igd syndromes//hyper-igd syndrome//hyperimmunoglobinemia d with recurrent fever//hyperimmunoglobulin d with periodic fever//hyperimmunoglobulinemia d//hyperimmunoglobulinemia d syndrome//periodic fever, dutch type//partial mevalonate kinase deficiency//periodic fever - dutch type//periodic fever dutch type//syndrome, hyper-igd//hyper-igd syndrome; hids//hyperimmunoglobulinemia d with periodic fever	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[]=Hyperimmunoglobulinemia D with periodic fever"	0	0	317
Familial hyperaldosteronism type II	fh 2//fh ii//fh-ii//fh2//fhii//familial hyperaldosteronism type 2//familial adrenal adenoma//hald2//familial hyperaldosteronism type ii//hyperaldosteronism, familial, type ii//hyperaldosteronism, familial, type ii; hald2	CLCN2	CLCN2	https://raresource.nih.gov/literature/disease/0002789	0002789	605635	404	C1854107			chloride voltage-gated channel 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperaldosteronism type II"	0	0	36
Familial hyperaldosteronism type I	acth-dependent hyperaldosteronism syndrome//aldosteronism, sensitive to dexamethasone//dexamethasone sensitive hypertension//dexamethasone-sensitive hypertension//fh 1//fh i//fh-i//fh1//familial hyperaldosteronism type 1//glucocorticoid-remediable aldosteronism//glucocorticoid-suppressible hyperaldosteronism//gra//gsh//gsh - glucocorticoid-suppressible hyperaldosteronism//glucocorticoid suppressible hyperaldosteronism//glucocorticoid sensitive hypertension//glucocorticoid-sensitive hypertension//hald1//hyperaldosteronism, familial, type i//hyperaldosteronism, familial type 1//familial hyperaldosteronism type i//glucocorticoid-remediable aldosteronism; gra//hyperaldosteronism, familial type 1//hyperaldosteronism, familial, type 1//hyperaldosteronism, familial, type i; hald1	CYP11B2;CYP11B1	CYP11B2;CYP11B1	https://raresource.nih.gov/literature/disease/0002790	0002790	103900	403	C1260386			cytochrome P450 family 11 subfamily B member 2;cytochrome P450 family 11 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperaldosteronism type I"	0	0	220
Transient familial neonatal hyperbilirubinemia	breast milk jaundice//hblrtfn//hyperbilirubinemia transient familial neonatal//lucey-driscoll syndrome//transient familial hyperbilirubinemia//hyperbilirubinemia, transient familial neonatal//hyperbilirubinemia, transient familial neonatal; hblrtfn//transient familial neonatal hyperbilirubinemia	UGT1A1	UGT1A1	https://raresource.nih.gov/literature/disease/0002791	0002791	237900	2312	C0270210			UDP glucuronosyltransferase family 1 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transient familial neonatal hyperbilirubinemia"	0	0	97
Dubin-Johnson syndrome	black liver-jaundice syndrome//chronic idiopathic jaundice//chronic idiopathic jaundices//chronic idiopathic jaundice with pigmented liver//conjugated hyperbilirubinemia//djs//djs - dubin-johnson syndrome//dubin johnson syndrome//dubin-johnson syndrome//dubin-johnson syndrome; djs//dubin-sprinz disease//dubin-sprinz syndrome//hblrdj//hyperbilirubinemia ii//hyperbilirubinemia, dubin-johnson type//hyperbilirubinemia 2//hyperbilirubinemia 2s//hyperbilirubinemia iis//hyperbilirubinemia type 2//icterus-hepatic pigmentation syndrome//idiopathic jaundice, chronic//idiopathic jaundices, chronic//jaundice, chronic idiopathic//jaundices, chronic idiopathic//sprinz nelson syndrome//sprinz-nelson syndrome//syndrome, dubin-johnson	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"	0	0	792
Familial hypocalciuric hypercalcemia type 1	casr familial hypocalciuric hypercalcemia//familial benign hypercalcemia 1//fbh1//fhh//fhh type 1//fhh1//familial benign hypercalcemia type 1//hhc//hhc1//hypercalcemia, familial benign//hypocalciuric hypercalcemia, acquired//hypercalcemia, familial benign type 1//hypocalciuric hypercalcemia, familial, type i//hypocalciuric hypercalcemia, familial, type 1//familial hypocalciuric hypercalcemia 1//familial hypocalciuric hypercalcemia caused by mutation in casr//familial hypocalciuric hypercalcemia type 1//familial hypocalciuric hypercalcemia type i//hypocalciuric hypercalcemia type i//hypocalciuric hypercalcemia, familial, type i; hhc1	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 type 1"	0	0	511
Hereditary hyperferritinemia-cataract syndrome	bonneau-beaumont syndrome//cataract-hyperferritinemia syndrome//dominant hyperferritinemia and cataract//hhcs//hrftc//hyperferritinemia with or without cataract//hyperferritinemia, hereditary, with congenital cataracts//hyperferritinemia-cataract syndrome//hereditary hyperferritinemia with congenital cataracts//hereditary hyperferritinemia cataract syndrome//hyperferritinemia cataract syndrome//hereditary hyperferritinemia-cataract syndrome//hyperferritinemia with or without cataract; hrftc	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-cataract syndrome"	0	0	134
Combined immunodeficiency due to DOCK8 deficiency	ar hyperimmunoglobulin e syndrome//ar-hies//autosomal recessive hies//autosomal recessive hiess//autosomal recessive hyper ige syndrome//cid due to dock8 deficiency//combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency//dock8 deficiency//dock8 immunodeficiency syndrome//hies autosomal recessive//hies, autosomal recessive//hies2//hiess, autosomal recessive//hyper-ige syndrome, autosomal recessive//hyper ig e syndrome, autosomal recessive//hyper ige recurrent infection syndrome, autosomal recessive//hyper ige syndrome, autosomal recessive//hyper immunoglobulin e syndrome, autosomal recessive//hyper-ige recurrent infection syndrome, autosomal recessive//hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive//combined immunodeficiency due to dock8 deficiency//dedicator of cytokinesis 8 deficiency	DOCK8	DOCK8	https://raresource.nih.gov/literature/disease/0002816	0002816	243700	217390				dedicator of cytokinesis 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to DOCK8 deficiency"	0	0	200
Hyperinsulinism due to glucokinase deficiency	hhf3//hyperinsulinemic hypoglycemia due to glucokinase deficiency//hyperinsulinemic hypoglycemia familial 3//hyperinsulinemic hypoglycemia, familial, 3//hyperinsulinemic hypoglycemia, familial, 3; hhf3//hyperinsulinemic hypoglycemia, familial, type 3//hyperinsulinism due to glucokinase deficiency	GCK	GCK	https://raresource.nih.gov/literature/disease/0002818	0002818	602485	79299				glucokinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to glucokinase deficiency"	0	0	None
Epidermolytic palmoplantar keratoderma	diffuse erythrodermic palmoplantar keratoderma//diffuse erythrodermic palmoplantar keratoderma, voerner type//diffuse erythrodermic palmoplantar keratoderma, vörner type//eppk//eppk (epidermolytic palmoplantar keratoderma)//eppks (epidermolytic palmoplantar keratoderma)//epidermolytic hyperkeratoses, localized//epidermolytic hyperkeratosis, localized//epidermolytic palmoplantar keratoderma vorner type//epidermolytic palmoplantar keratodermas//epidermolytic thost-unna disease//epidermolytic unna-thost disease//epidermolytic palmoplantar keratoderma of voerner//epidermolytic palmoplantar keratoderma of vorner//epidermolytic palmoplantar keratoderma of vörner//hyperkeratosis, localized epidermolytic//hyperkeratoses, localized epidermolytic//hyperkeratosis palmoplantar localized epidermolytic//keratoderma, epidermolytic palmoplantar//keratosis of greither//keratosis palmaris et plantaris familiaris//keratoderma, palmoplantar, epidermolytic//keratodermas, epidermolytic palmoplantar//localised epidermolytic hyperkeratosis//localized epidermolytic hyperkeratoses//localized epidermolytic hyperkeratosis//palmoplantar keratoderma, epidermolytic, with knuckle pads//palmoplantar keratoderma, vorner type//ppke//palmoplantar keratodermas, epidermolytic//tylosis//thost unna disease, epidermolytic//thost-unna disease, epidermolytic//unna thost disease, epidermolytic//unna-thost disease, epidermolytic//voerner type//vörner type//diffuse erythrodermic palmoplantar keratoderma, vc6rner type//epidermolytic palmoplantar keratoderma//epidermolytic palmoplantar keratoderma of vc6rner//palmoplantar keratoderma, epidermolytic//palmoplantar keratoderma, epidermolytic; eppk	KRT1;KRT16;KRT9	KRT1;KRT16;KRT9	https://raresource.nih.gov/literature/disease/0002826	0002826	144200	2199	C1721006			keratin 1;keratin 16;keratin 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolytic palmoplantar keratoderma"	0	0	203
Hyperlysinemia	alpha-aminoadipic semialdehyde synthase deficiency//alpha aminoadipic semialdehyde deficiency disease//alpha-aminoadipic semialdehyde deficiency disease//deficiencies, l-lysine:nad-oxido-reductase//deficiencies, lysine:alpha-ketoglutarate reductase//deficiency disease, alpha aminoadipic semialdehyde//deficiency disease, alpha-aminoadipic semialdehyde//deficiency disease, lysine alpha ketoglutarate reductase//deficiency disease, lysine alpha-ketoglutarate reductase//deficiency disease, saccharopine dehydrogenase//deficiency, l-lysine:nad-oxido-reductase//deficiency, lysine:alpha-ketoglutarate reductase//elevated blood lysine//familial hyperlysinemia//familial hyperlysinemias//hyperlysinemia, type i//hyperammonemia, hyperlysinuria with//hyperammonemias, hyperlysinuria with//hyperlysinemia type i//hyperlysinemia, familial//hyperlysinemia, periodic//hyperlysinemias//hyperlysinemias, familial//hyperlysinemias, periodic//hyperlysinuria with hyperammonemia//hyperlysinuria with hyperammonemias//l lysine:nad oxido reductase deficiency//l-lysine:nad-oxido-reductase deficiency//l-lysine:nad-oxido-reductase deficiencies//l-lysine nad-oxido-reductase deficiency//lysine intolerance//lysine:alpha-ketoglutarate reductase deficiency//lysine alpha ketoglutarate reductase deficiency disease//lysine alpha-ketoglutarate reductase deficiency disease//lysine alpha-ketoglutarate reductase deficiency//lysine:alpha ketoglutarate reductase deficiency//lysine:alpha-ketoglutarate reductase deficiencies//periodic hyperlysinemia//periodic hyperlysinemias//reductase deficiencies, lysine:alpha-ketoglutarate//reductase deficiency, lysine:alpha-ketoglutarate//saccharopine dehydrogenase deficiency disease//with hyperammonemia, hyperlysinuria//with hyperammonemias, hyperlysinuria//hyperlysinemia//hyperlysinemia (disease)//hyperlysinemia, type 1	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"	0	0	58
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	hhh//hhh - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome//hhh syndrome//hhhs//hyperornithinemia-hyperammonemia-homocitrullinemia syndrome//hyperornithinemia-hyperammonemia-homocitrullinuria (hhh) syndrome//hyperornithinemia-hyperammonemia-homocitrullinuria//ornithine translocase deficiency//ornt1 deficiency//ornithine carrier deficiency//ornithine translocase deficiency syndrome//triple h syndrome//hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	SLC25A15	SLC25A15	https://raresource.nih.gov/literature/disease/0002830	0002830	238970	415	C0268540			solute carrier family 25 member 15	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"	0	0	123
Juvenile Paget disease	chronic congenital idiopathic hyperphosphatasemia//familial idiopathic hyperphosphatasemia//familial osteoectasia//hyperostosis corticalis deformans juvenilis//hyperphosphatasemia, chronic congenital idiopathic//hyperphosphatasia, familial idiopathic//hereditary hyperphosphatasia//hyperostosid corticalis deformans juvenilis//hyperphosphatasemia with bone disease//idiopathic hyperphosphatasia//jpd//jpg//juvenile paget disease//juvenile paget's disease//juvenile pagets disease//osteoectasia, familial//osteochalasia desmalis familiaris//osteoectasia with hyperphosphatasia//pdb5//paget disease juvenile type//paget disease of bone 5, juvenile-onset//paget disease of bone 5, juvenile-onset; pdb5//familial hyperphosphatasia	TNFRSF11B;TNFRSF11A	TNFRSF11B;TNFRSF11A	https://raresource.nih.gov/literature/disease/0002831	0002831	239000	2801	C0268414			TNF receptor superfamily member 11b;TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile Paget disease"	0	0	94
Hyperostosis corticalis generalisata	endosteal hyperostosis, autosomal recessive//endosteal hyperostosis autosomal recessive//hyperostosis corticalis generalisata//hyperphosphatasemia tarda//sost-related sclerosing bone dysplasia//van buchem disease; vbch//vbch//van buchem disease//endosteal hyperostosis//van buchem disease type 1	SOST;LRP5	SOST;LRP5	https://raresource.nih.gov/literature/disease/0002833	0002833	239100	3416	C0432272			sclerostin;LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperostosis corticalis generalisata"	0	0	116
Primary hyperoxaluria type 1	2-oxoglutarate glyoxylate carboligase deficiency//agxt primary hyperoxaluria//alanine-glyoxylate aminotransferase deficiency//alanine-glycoxylate aminotransferase deficiency//glycolic aciduria//hepatic agt deficiency//hp1//hyperoxaluria, primary, type i//oxalosis i//oxalosis 1//oxalosis type i//peroxisomal alanine:glyoxylate aminotransferase deficiency//ph1//peroxisomal alanine glyoxylate aminotransferase deficiency//peroxisomal alanine-glyoxylate aminotransferase deficiency//primary hyperoxaluria type i//primary hyperoxaluria, type i//serine:pyruvate aminotransferase deficiency//serine pyruvate aminotransferase deficiency//hyperoxaluria, primary, type 1//hyperoxaluria, primary, type i; hp1//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 and serine--pyruvate aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hyperoxaluria type 1"	0	0	686
Primary hyperoxaluria type 2	d-glycerate dehydrogenase deficiency//deficiency of glycerate dehydrogenase//deficiency of glyoxylate reductase//glyceric aciduria//glyoxylate reductase/hydroxypyruvate reductase deficiency//grhpr primary hyperoxaluria//glycerate dehydrogenase deficiency//glyceric dehydrogenase deficiency//glyoxylate reductase deficiency//glyoxylate reductase-hydroxypyruvate reductase deficiency//hp2//hyperoxaluria, primary, type ii//l-glyceric aciduria//oxalosis ii//oxalosis 2//oxalosis type ii//primary hyperoxaluria, type ii//hyperoxaluria, primary, type 2//hyperoxaluria, primary, type ii; hp2//oxalosis iiglyoxylate reductase/hydroxypyruvate reductase deficiency//primary hyperoxaluria caused by mutation in grhpr//primary hyperoxaluria type 2//primary hyperoxaluria type ii	GRHPR	GRHPR	https://raresource.nih.gov/literature/disease/0002836	0002836	260000	93599	C0268165			glyoxylate and hydroxypyruvate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hyperoxaluria type 2"	0	0	72
Neonatal severe primary hyperparathyroidism	casr-related disorders//hyperparathyroidism, neonatal severe primary//nhpt//nshpt//nsph//neonatal severe hyperparathyroidism//hyperparathyroidism, neonatal severe//hyperparathyroidism, neonatal severe; nshpt//neonatal severe primary hyperparathyroidism	CASR;TRPV6	CASR;TRPV6	https://raresource.nih.gov/literature/disease/0002838	0002838	239200	417	C1832615			calcium sensing receptor;transient receptor potential cation channel subfamily V member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal severe primary hyperparathyroidism"	0	0	176
Pterin-4 alpha-carbinolamine dehydratase deficiency	cadh deficiency//dehydratase deficiency//hpabh4d//hyperphenylalaninemia with primapterinuria//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency//hyperphenylalaninemia due to dehydratase deficiency//hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency//hyperphenylalaninemia, bh4-deficient, d//pcbd deficiency//pcbd1 deficiency//pcd deficiency//tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia (hpa) due to pterin-4-alpha-carbinolamine dehydratase deficiency//hyperphenylalaninemia, bh4-deficient, d; hpabh4d//hyperphenylalaninemia, bh4-deficient, type d//pterin-4 alpha-carbinolamine dehydratase 1 deficiency//pterin-4 alpha-carbinolamine dehydratase deficiency	PCBD1	PCBD1	https://raresource.nih.gov/literature/disease/0002843	0002843	264070	1578	C1849700			pterin-4 alpha-carbinolamine dehydratase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pterin-4 alpha-carbinolamine dehydratase deficiency"	0	0	1
GTP cyclohydrolase I deficiency	dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive//gtp - guanosine-5-triphosphate cyclohydrolase deficiency//gtp cyclohydrolase i deficiency//gtp cyclohydrolase 1 deficiency (gtpch)//gtp cyclohydrolase 1-related disorders//gtp cyclohydrolase 1 deficiency//gtp-cyclohydrolase i deficiency//gtpch deficiency//guanosine triphosphate (gtp) cyclohydrolase i deficiency//guanosine triphosphate cyclohydrolase i deficiency//guanosine-5-triphosphate cyclohydrolase deficiency//hpabh4b//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency//hyperphenylalaninemia due to gtp cyclohydrolase deficiency//hyperphenylalaninemia with neopterin deficiency//hyperphenylalaninemia, bh4-deficient, b//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency//hyperphenylalaninemia, bh4-deficient, b; hpabh4b//hyperphenylalaninemia, bh4-deficient, type b	GCH1	GCH1	https://raresource.nih.gov/literature/disease/0002844	0002844	233910	2102	C0268467			GTP cyclohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GTP cyclohydrolase I deficiency"	0	0	38
Hyperprolinemia type 1	hyperprolinemia//proline hydrogenase deficiency//proline oxidase deficiency//prolinemia//hyperprolinemia type 1	PRODH	PRODH	https://raresource.nih.gov/literature/disease/0002847	0002847	239500	419	C0268529			proline dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperprolinemia type 1"	0	0	81
Familial hyperthyroidism due to mutations in TSH receptor	familial non-immune hyperthyroidism//hyperthyroidism, congenital nonautoimmune//hyperthyroidism, nonautoimmune, autosomal dominant//nonautoimmune hyperthyroidism//resistance to thyroid stimulating hormone//toxic thyroid hyperplasia, autosomal dominant//familial hyperthyroidism due to mutations in tsh receptor//hyperthyroidism, nonautoimmune	TSHR	TSHR	https://raresource.nih.gov/literature/disease/0002858	0002858	609152	424				thyroid stimulating hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperthyroidism due to mutations in TSH receptor"	0	0	35
X-linked congenital generalized hypertrichosis	cgh//chromosome xq27.1 interchromosomal insertion syndrome//chromosome xq27.1 interchromosomal insertion syndrome//congenital generalized hypertrichosis//congenital generalized hypertrichosis, macias-flores type//hcg//htc2//hypertrichosis congenital generalized x-linked//hypertrichosis, congenital generalized//macias flores-garcia cruz-rivera syndrome//macias-flores garcia-cruz rivera syndrome//macias-flores type//hypertrichosis, congenital generalized; htc2	SOX3	SOX3	https://raresource.nih.gov/literature/disease/0002863	0002863	307150	79495	C2931836	C538388		SRY-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked congenital generalized hypertrichosis"	0	0	148
Hypertryptophanemia	hypertryptophanemia, familial//hyptrp//familial hypertryptophanemia//hypertryptophanemia; hyptrp	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[]=Hypertryptophanemia"	0	0	13
Apolipoprotein A-I deficiency	apolipoprotein a-i deficiency//apoa-i deficiency//combined apolipoprotein a-i and c-iii deficiency//familial hdl deficiency//fha//fhd//familial high density lipoprotein deficiency disease//familial high-density lipoprotein deficiency disease//familial hypoalphalipoproteinemia//familial hypoalphalipoproteinemias//familial alpha lipoprotein deficiency disease//familial alpha-lipoprotein deficiency disease//familial apoa-i deficiency//hdl cholesterol, low serum//hdl lipoprotein deficiency disease//hdlc//hdlcq13//hdld//high density lipoprotein cholesterol level quantitative trait locus 13//high density lipoprotein deficiency//hypoalphalipoproteinemia, familial//hypoalphalipoproteinemia, primary, 2//high density lipoprotein deficiency disease, familial//high-density lipoprotein deficiency disease, familial//hypo alpha lipoproteinemia//hypo alpha lipoproteinemias//hypoalphalipoproteinemia//hypoalphalipoproteinemia, primary//hypoalphalipoproteinemias//hypoalphalipoproteinemias, familial//hypoalphalipoproteinemias, primary//lipoprotein deficiency disease, hdl, familial//lipoproteinemia, hypo alpha//lipoproteinemias, hypo alpha//primary hypoalphalipoproteinemias//alpha lipoprotein deficiency disease, familial//alpha lipoproteinemia, hypo//alpha-lipoprotein deficiency disease, familial//hypoalphalipoproteinemia, primary, 1	ABCA1;APOA1	ABCA1;APOA1	https://raresource.nih.gov/literature/disease/0002872	0002872	604091	425	C0342898	D052456		ATP binding cassette subfamily A member 1;apolipoprotein A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Apolipoprotein A-I deficiency"	0	0	751
Hypobetalipoproteinemia, familial, 1	acanthocytosis with hypobetalipoproteinemia//apob hypobetalipoproteinemia//fhbl//fhbl1//familial hypobetalipoproteinemia//hypobetalipoproteinemia, familial//hypobetalipoproteinemia, normotriglyceridemic//hypobetalipoproteinemia//ldlcq4//low density lipoprotein cholesterol level quantitative trait locus 4//familial//familial hypobetalipoproteinemia 1//familial hypobetalipoproteinemia type 1//hypobetalipoproteinemia caused by mutation in apob//hypobetalipoproteinemia, familial, 1//hypobetalipoproteinemia, familial, 1; fhbl1//hypobetalipoproteinemia, familial, type 1//normotriglyceridemic	APOB	APOB	https://raresource.nih.gov/literature/disease/0002876	0002876			C4760580		E78.6	apolipoprotein B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypobetalipoproteinemia, familial, 1"	0	0	906
Autosomal dominant hypocalcemia	ad hypocalcemia//bartter syndrome type 5//bartter syndrome type v//bartter syndrome with hypocalcemia//casr autosomal dominant hypocalcemia//hypercalciuric hypocalcemia//hypoc//hypoc1//hypocalcemia, autosomal dominant 1//hypocalcemia, autosomal dominant 1, with bartter syndrome//hypocalcemia, familial//hypocalcemia, autosomal dominant//autosomal dominant hypocalcemia//autosomal dominant hypocalcemia caused by mutation in casr//autosomal dominant hypocalcemia type 1//hypocalcemia, autosomal dominant 1; hypoc1//hypocalcemia, autosomal dominant type 1	GNA11;CASR	GNA11;CASR	https://raresource.nih.gov/literature/disease/0002877	0002877	601198	428				G protein subunit alpha 11;calcium sensing receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hypocalcemia"	0	0	131
Familial hypocalciuric hypercalcemia type 3	ap2s1 familial hypocalciuric hypercalcemia//familial benign hypercalcemia, type iii//fbh3//fbhok//fhh type 3//familial benign hypercalcemia, oklahoma variant//familial benign hypercalcemia, type 3//hhc3//hypercalcemia, familial benign, oklahoma type//hypercalcemia, familial benign, type iii//hypercalcemia, familial benign, type 3//hypocalciuric hypercalcemia, familial, type iii//hypocalciuric hypercalcemia, familial, type 3//familial hypocalciuric hypercalcemia 3//familial hypocalciuric hypercalcemia caused by mutation in ap2s1//familial hypocalciuric hypercalcemia type 3//hypocalciuric hypercalcemia type iii//hypocalciuric hypercalcemia, familial, type iii; hhc3	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 type 3"	0	0	14
Familial hypofibrinogenemia	hypofibrinogenemia, familial//familial hypofibrinogenemia	FGG;FGA;FGB	FGG;FGA;FGB	https://raresource.nih.gov/literature/disease/0002887	0002887	202400	101041	C2584774			fibrinogen gamma chain;fibrinogen alpha chain;fibrinogen beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hypofibrinogenemia"	0	0	1225
Hypogonadotropic hypogonadism 7 with or without anosmia	hypogonadism//idiopathic hypogonadotropic hypogonadism//isolated hypogonadotropic	GNRHR	GNRHR	https://raresource.nih.gov/literature/disease/0002897	0002897			C0342384			gonadotropin releasing hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 7 with or without anosmia"	0	0	7425
Familial isolated dilated cardiomyopathy	familial or idiopathic dilated cardiomyopathy	RAF1;HAND2;TXNRD2;ACTN2;ANKRD1;CAP2;MYPN;DOLK;CRYAB;CSRP3;PPCS;RBM20;DES;DMD;NEXN;TNNC1;DSP;DSG2;GATAD1;ABCC9;TCAP;TAF1A;SGCD;SDHA;SCN5A;FHL2;PSEN2;PSEN1;BAG5;BAG3;PLN;MYH7;MYH6;MYBPC3;LMNA;LAMA4;TAFAZZIN;TMPO;FKTN;TNNI3;TNNT2;TPM1;TTN;VCL;PRDM16;ACTC1;LDB3	RAF1;HAND2;TXNRD2;ACTN2;ANKRD1;CAP2;MYPN;DOLK;CRYAB;CSRP3;PPCS;RBM20;DES;DMD;NEXN;TNNC1;DSP;DSG2;GATAD1;ABCC9;TCAP;TAF1A;SGCD;SDHA;SCN5A;FHL2;PSEN2;PSEN1;BAG5;BAG3;PLN;MYH7;MYH6;MYBPC3;LMNA;LAMA4;TAFAZZIN;TMPO;FKTN;TNNI3;TNNT2;TPM1;TTN;VCL;PRDM16;ACTC1;LDB3	https://raresource.nih.gov/literature/disease/0002905	0002905	611879	154	C0340427			Raf-1 proto-oncogene, serine/threonine kinase;heart and neural crest derivatives expressed 2;thioredoxin reductase 2;actinin alpha 2;ankyrin repeat domain 1;cyclase associated actin cytoskeleton regulatory protein 2;myopalladin;dolichol kinase;crystallin alpha B;cysteine and glycine rich protein 3;phosphopantothenoylcysteine synthetase;RNA binding motif protein 20;desmin;dystrophin;nexilin F-actin binding protein;troponin C1, slow skeletal and cardiac type;desmoplakin;desmoglein 2;GATA zinc finger domain containing 1;ATP binding cassette subfamily C member 9;titin-cap;TATA-box binding protein associated factor, RNA polymerase I subunit A;sarcoglycan delta;succinate dehydrogenase complex flavoprotein subunit A;sodium voltage-gated channel alpha subunit 5;four and a half LIM domains 2;presenilin 2;presenilin 1;BAG cochaperone 5;BAG cochaperone 3;phospholamban;myosin heavy chain 7;myosin heavy chain 6;myosin binding protein C3;lamin A/C;laminin subunit alpha 4;tafazzin, phospholipid-lysophospholipid transacylase;thymopoietin;fukutin;troponin I3, cardiac type;troponin T2, cardiac type;tropomyosin 1;titin;vinculin;PR/SET domain 16;actin alpha cardiac muscle 1;LIM domain binding 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated dilated cardiomyopathy"	0	0	4
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	fhhnc without severe ocular involvement//familial primary hypomagnesemia//genetic primary hypomagnesemia//homg//homg3//renal hypomagnesemia type 3//primary familial hypomagnesemia	CLDN16	CLDN16	https://raresource.nih.gov/literature/disease/0002906	0002906	248250	31043				claudin 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"	0	0	3
Hypoparathyroidism-sensorineural deafness-renal disease syndrome	barakat syndrome//hdr//hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome//hdr syndrome//hdrs//hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome//hypoparathyroidism, sensorineural deafness, and renal disease//hypoparathyroidism, deafness, renal disease syndrome//hypoparathyroidism, sensorineural deafness, and renal dysplasia//hypoparathyroidism-sensorineural hearing loss-renal disease syndrome//nephrosis, nerve deafness, and hypoparathyroidism//hypoparathyroidism, deafness, and renal anomalies syndrome//hypoparathyroidism, sensorineural deafness, and renal disease; hdr//hypoparathyroidism-deafness-renal disease syndrome	GATA3	GATA3	https://raresource.nih.gov/literature/disease/0002911	0002911	146255	2237	C1840333			GATA binding protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoparathyroidism-sensorineural deafness-renal disease syndrome"	0	0	125
Congenital factor II deficiency	dysprothrombinemia//hypoprothrombinemia//prothrombin deficiency	F2	F2	https://raresource.nih.gov/literature/disease/0002926	0002926	613679	325	C0272317			coagulation factor II, thrombin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor II deficiency"	0	0	516
Schilbach-Rott syndrome	blepharofacioskeletal syndrome//brss//blepharo-facio-skeletal syndrome//cleft palate, hypotelorism, and hypospadias//hypotelorism - cleft palate - hypospadias//hypotelorism cleft palate hypospadias//hypotelorism-cleft palate-hypospadias syndrome//ocular hypotelorism, submucosal cleft palate, and hypospadias	PTCH1	PTCH1	https://raresource.nih.gov/literature/disease/0002930	0002930	164220	2353	C1834038			patched 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schilbach-Rott syndrome"	0	0	9
ICF syndrome	ciid//centromeric instability, immunodeficiency syndrome//immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16//immunodeficiency - centromeric instability - facial anomalies//immunodeficiency syndrome, variable//immunodeficiency-centromeric instability-facial anomalies syndrome//immunodeficiency-centromeric instability-facial anomalies	ZBTB24;DNMT3B;CDCA7;HELLS	ZBTB24;DNMT3B;CDCA7;HELLS	https://raresource.nih.gov/literature/disease/0002945	0002945	616910	2268				zinc finger and BTB domain containing 24;DNA methyltransferase 3 beta;cell division cycle associated 7;helicase, lymphoid specific	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ICF syndrome"	0	0	154
Keratitis-ichthyosis-deafness syndrome, autosomal recessive	autosomal recessive kid (keratitis, ichthyosis, deafness) syndrome//autosomal recessive keratitis-ichthyosis-deafness syndrome//desmons syndrome//ichthyosiform erythroderma, corneal involvement, and deafness//ichthyosiform erythroderma//ichthyosiform erythroderma, corneal involvement, deafness//kid syndrome, autosomal recessive//kidar//and deafness//autosomal recessive//corneal involvement//keratitis-ichthyosis-deafness syndrome, autosomal recessive//kid syndrome	AP1B1	AP1B1	https://raresource.nih.gov/literature/disease/0002946	0002946			C1275089			adaptor related protein complex 1 subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratitis-ichthyosis-deafness syndrome, autosomal recessive"	0	0	667
Ichthyosis follicularis-alopecia-photophobia 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//ifap syndrome ichthyosis follicularis atrichia photophobia syndrome//ifap syndrome with or without bresheck syndrome//ifap/bresheck syndrome//ifap1//ichthyosis follicularis, atrichia, and photophobia syndrome//ichthyosis follicularis - atrichia - photophobia//ichthyosis follicularis atrichia photophobia syndrome//ichthyosis follicularis-atrichia-photophobia syndrome//ichthyosis follicularis-alopecia-photophobia syndrome	MBTPS2	MBTPS2	https://raresource.nih.gov/literature/disease/0002952	0002952	308205	2273	C1839988	C536085		membrane bound transcription factor peptidase, site 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis follicularis-alopecia-photophobia syndrome"	0	0	51
Ichthyosis hystrix of Curth-Macklin	curth-macklin type//curth-macklin type ichthyosis hystrix//ichthyosis, lambert type//ihcm//ichthyosis hystrix, curth-macklin type//ichthyosis hystrix//ichthyosis hystrix gravior//ichthyosis hystrix, curth macklin type//lambert type ichthyosis//porcupine man//ichthyosis hystrix, curth-macklin type; ihcm//ichthyosis hystrix of curth-macklin	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"	0	0	57
Superficial epidermolytic ichthyosis	bullous type ichthyoses//bullous type ichthyosis//bullous type of ichthyosis//ibs//ichthyosis exfoliativa//ichthyosis, bullous type//ichthyoses, bullous type//ichthyosis bullous type//ichthyosis bullosa of siemens//ichthyosis, bullous type of siemens//sei//siemens ichthyosis bullosa//ichthyosis bullosa of siemens; ibs//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[]=Superficial epidermolytic ichthyosis"	0	0	9545
Anterior segment dysgenesis 3	iridogoniodysgenesis//autosomal dominant//familial//glaucoma iridogoniodysplasia//iridogoniodysgenesis anomaly//iris hypoplasia with glaucoma//type 1	FOXC1	FOXC1	https://raresource.nih.gov/literature/disease/0002978	0002978		98634	C1866560			forkhead box C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 3"	0	0	3728
Infantile myofibromatosis	cgf//congenital generalized fibromatosis//fibromatosis, congenital generalized//imf//imf1//ims//infantile hemangiopericytoma//infantile myofibromatosis//myofibromatosis, juvenile//multicentric myofibromatosis//myofibromatoses//myofibromatosis//myofibromatosis, infantile//pdgfrb myofibromatosis//lipofibromatosis//myofibromatosis caused by mutation in pdgfrb//myofibromatosis, infantile, 1//myofibromatosis, infantile, 1; imf1//myofibromatosis, infantile, type 1	PDGFRB;NOTCH3	PDGFRB;NOTCH3	https://raresource.nih.gov/literature/disease/0002998	0002998	228550	2591	C0432284			platelet derived growth factor receptor beta;notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile myofibromatosis"	0	0	113
Hereditary sensory and autonomic neuropathy type 4	autosomal recessive hereditary sensory neuropathy//cip-anhidrosis syndrome//cipa//congenital insensitivity to pain with anhidrosis//congenital insensitivity to pain, anhidrosis and mental retardation//congenital sensory neuropathy with anhidrosis//familial dysautonomia, type ii//familial dysautonomia, type 2//hereditary sensory and autonomic neuropathy iv//hsan 4//hsan iv//hsan type iv//hsan4//hsnan4//hereditary sensory autonomic neuropathy, type 4//hereditary sensory and autonomic neuropathy type iv//hereditary sensory and autonomic neuropathy, type 4//hereditary insensitivity to pain with anhidrosis//hereditary sensory and autonomic neuropathy 4//hereditary sensory and autonomic neuropathy, type iv//hereditary sensory neuropathy type iv//insensitivity to pain with anhidrosis, congenital//insensitivity to pain - anhidrosis//insensitivity to pain, congenital, with anhidrosis//neuropathy, congenital sensory, with anhidrosis//ntrk1 hereditary sensory and autonomic neuropathy//neuropathy, hereditary sensory and autonomic, type iv//pain insensitivity with anhidrosis, congenital//swanson-buchanan-alvord neuropathy syndrome//type iv, hsan//congenital insensitivity to pain-anhidrosis syndrome//hereditary sensory and autonomic neuropathy caused by mutation in ntrk1//hereditary sensory and autonomic neuropathy type 4//hereditary sensory neuropathy type 4//insensitivity to pain, congenital, with anhidrosis; cipa	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 sensory and autonomic neuropathy type 4"	0	0	227
Mosaic variegated aneuploidy syndrome	bub1b mosaic variegated aneuploidy syndrome//chromosomal mosaicism due to mitotic instability//instability mitotic non disjunction syndrome//mosaic variegated aneuploidy syndrome 1; mva1//mva syndrome//mva1//mosaic variegated aneuploidy syndrome 1//mosaic variegated aneuploidy syndrome type 1//warburton-anyane-yeboa syndrome//mosaic variegated aneuploidy syndrome//mosaic variegated aneuploidy syndrome caused by mutation in bub1b	BUB3;BUB1;CEP57;BUB1B;TRIP13	BUB3;BUB1;CEP57;BUB1B;TRIP13	https://raresource.nih.gov/literature/disease/0003007	0003007	617598	1052	C1850343	C536987		BUB3 mitotic checkpoint protein;BUB1 mitotic checkpoint serine/threonine kinase;centrosomal protein 57;BUB1 mitotic checkpoint serine/threonine kinase B;thyroid hormone receptor interactor 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mosaic variegated aneuploidy syndrome"	0	0	33
Insulin-resistance syndrome type A	diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a//diabetes mellitus, insulin-resistant, with acanthosis nigricans//insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans//iran, type a//insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans//insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism//insulin-resistant acanthosis nigricans, type a//type a insulin resistance//type a insulin resistance syndrome//insulin-resistance syndrome type a	INSR	INSR	https://raresource.nih.gov/literature/disease/0003008	0003008	610549	2297	C0342278			insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Insulin-resistance syndrome type A"	0	0	83
Insulinoma	adenoma, beta cell//adenoma, beta-cell//adenomas, beta-cell//beta cell tumor//beta cell tumor of pancreas//beta cell tumor of the pancreas//insulin-producing tumor of islet cells//insulinomas//insuloma//insulomas//islet cell adenoma//pancreatic insulinoma//tumor, beta-cell//tumors, beta-cell//beta cell neoplasm//beta-cell adenoma//beta-cell adenomas//beta-cell tumor//beta-cell tumors//insulin-producing islet cell tumor//insulin-producing tumor of the islet cells//insulinoma//insulinoma tumor suppressor gene locus//pancreatic beta cell tumor//pancreatic insulin producing net//pancreatic insulin producing neoplasm//pancreatic insulin producing tumor//pancreatic insulin-producing neuroendocrine tumor//pancreatic insulin-producing tumor	YY1;MEN1	YY1;MEN1	https://raresource.nih.gov/literature/disease/0003010	0003010		97279	C0021670	D007340		YY1 transcription factor;menin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Insulinoma"	0	0	5893
Multiple intestinal atresia	cid-mia/early-onset ibd//familial intestinal polyatresia syndrome//fipa//gidid//intestinal atresia, multiple//intestinal atresia multiple//meddra:10028210//minat//multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency//multiple gastrointestinal atresias//combined immunodeficiency-enteropathy spectrum//gastrointestinal defects and immunodeficiency syndrome//gastrointestinal defects and immunodeficiency syndrome; gidid//intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency//multiple intestinal atresia	TTC7A	TTC7A	https://raresource.nih.gov/literature/disease/0003013	0003013	243150	2300	C0220744			tetratricopeptide repeat domain 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple intestinal atresia"	0	0	161
Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	ciip//ciip x-linked//ciip, x-linked//ciipx//congenital idiopathic intestinal pseudoobstruction//congenital short bowel syndrome, x-linked//intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement//ipox//intestinal pseudoobstruction chronic idiopathic//intestinal pseudoobstruction neuronal chronic idiopathic x-linked//intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked//chronic idiopathic//intestinal pseudoobstruction//neuronal//with central nervous system involvement//x-linked	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0003017	0003017			C2746068			filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked"	0	0	3309
Congenital intrinsic factor deficiency	congenital pernicious anemia//congenital pernicious anemia due to defect of intrinsic factor//gastric intrinsic factor deficiency//hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency//hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency//ifd//intrinsic factor deficiency//intrinsic factor, congenital deficiency of//pernicious anemia, congenital, due to defect of intrinsic factor//congenital intrinsic factor deficiency//hereditary intrinsic factor deficiency//intrinsic factor deficiency; ifd	CBLIF	CBLIF	https://raresource.nih.gov/literature/disease/0003024	0003024	261000	332	C1394891			cobalamin binding intrinsic factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital intrinsic factor deficiency"	0	0	652
Anterior segment dysgenesis 4	asgd4//igds//ihga//irid2//iridogoniodysgenesis syndrome//iridogoniodysgenesis, type 2//iris hypoplasia with early-onset glaucoma, autosomal dominant//iridogoniodysgenesis//iridogoniodysgenesis type 2//iridogoniodysgenesis, dominant type//iris hypoplasia//iris hypoplasia with early onset glaucoma, autosomal dominant//pitx2 iridogoniodysgenesis//anterior segment dysgenesis 4//anterior segment dysgenesis 4; asgd4//autosomal dominant//iridogoniodysgenesis caused by mutation in pitx2//iridogoniodysgenesis, type 2; irid2//iris hypoplasia with early-onset glaucoma//type 2	PITX2	PITX2	https://raresource.nih.gov/literature/disease/0003026	0003026		98634	C1842031			paired like homeodomain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anterior segment dysgenesis 4"	0	0	345
Coxopodopatellar syndrome	coxopodopatellar syndrome//congenital coxa vara, patella aplasia and tarsal synostosis//coxo-podo-patellar syndrome//icpps//ischiocoxopodopatellar syndrome//ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension//ischiopatellar dysplasia//patella aplasia, coxa vara, and tarsal synostosis//patella aplasia, coxa vara, tarsal synostosis//scott-taor syndrome//small patella syndrome//sps//scott taor syndrome//coxopodipatellar syndrome//ischiocoxopodopatellar syndrome; icpps//small patella syndrome; sps	TBX4	TBX4	https://raresource.nih.gov/literature/disease/0003030	0003030	147891	1509	C1840061			T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coxopodopatellar syndrome"	0	0	706
CLN2 disease	ceroid lipofuscinosis, neuronal, 2, variable age at onset//cln2//cln2 disease, juvenile (subtype)//cln2 disease, late infantile (subtype)//classic late infantile ncl//classic late infantile neuronal ceroid lipofuscinosis//jansky-bielschowsky disease//lincl//neuronal ceroid lipofuscinosis, late infantile//neuronal ceroid lipofuscinosis 2//tpp1 neuronal ceroid lipofuscinosis//ceroid lipofuscinosis, neuronal, 2//ceroid lipofuscinosis, neuronal, 2; cln2//ceroid lipofuscinosis, neuronal, type 2//late infantile neuronal ceroid lipofuscinosis//neuronal ceroid lipofuscinosis 2 variable age at onset//neuronal ceroid lipofuscinosis caused by mutation in tpp1//neuronal ceroid lipofuscinosis type 2	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[]=CLN2 disease"	0	0	361
Spondylometaphyseal dysplasia, Kozlowski type	dysmorphism arthrogryposis skeletal maturation advanced//jequier kozlowski skeletal dysplasia//jequier-kozlowski syndrome//kozlowski spondylometaphyseal dysplasia//smd kozlowski type//smd, kozlowski type//smdk//skeletal dysplasia jequier-kozlowski type//spondylometaphyseal dysplasia kozlowski type//spondylometaphyseal dysplasia, kozlowski type//spondylometaphyseal dysplasia, 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"	0	0	807
Jervell and Lange-Nielsen syndrome	cardioauditory syndrome of jervell and lange-nielsen//cardio auditory syncope syndrome//cardio-auditory-syncope syndrome//cardio-auditory-syncope syndromes//cardio-auditory syndrome//cardioauditory syndrome of jervell and lange nielsen//deafness, congenital, and functional heart disease//jlns//jlns1//jervell and lange nielsen syndrome 1//jervell and lange-nielsen syndrome 1//jervell lange nielsen syndrome//jervell lange-nielsen syndrome//jervell and lange nielsen syndrome//jervell and lange-nielsen syndrome//jervell and lange-nielsen syndrome 1; jlns1//jervell and lange-nielsen syndrome caused by mutation in kcnq1//jervell and lange-nielsen syndrome type 1//jervell and lange-nielson syndrome//jervell-lange nielsen syndrome//kcnq1 jervell and lange-nielsen syndrome//long qt interval - deafness//long qt interval-deafness syndrome//long qt interval-hearing loss syndrome//prolonged qt interval in ekg and sudden death//surdo-cardiac syndrome//surdo cardiac syndrome//surdo-cardiac syndromes//syndrome, cardio-auditory-syncope//syndrome, jervell-lange nielsen//syndrome, surdo-cardiac//syndromes, cardio-auditory-syncope	KCNQ1;KCNE1	KCNQ1;KCNE1	https://raresource.nih.gov/literature/disease/0003048	0003048	612347	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"	0	0	251
Jeune syndrome	atd//atd1//asphyxiating thoracic chondrodystrophy//asphyxiating thoracic dysplasia//asphyxiating thoracic dystrophy//asphyxiating thoracic dystrophy (atd)//asphyxiating thoracic dystrophy 1//asphyxiating thoracic dystrophy of the newborn//chondroectodermal dysplasia-like syndrome//infantile thoracic dystrophy//jatd//jeune thoracic dysplasia//jeune thoracic dystrophy//jeune asphyxiating thoracic dystrophy//jeune's syndrome//short-rib thoracic dysplasia//thoracic asphyxiant dystrophy//thoracic pelvic phalangeal dystrophy//thoracic-pelvic-phalangeal dystrophy//short-rib thoracic dysplasia with or without polydactyly	IFT172;WDR19;DYNC2I1;DYNC2LI1;TTC21B;CEP120;DYNC2I2;IFT140;IFT80;DYNC2H1	IFT172;WDR19;DYNC2I1;DYNC2LI1;TTC21B;CEP120;DYNC2I2;IFT140;IFT80;DYNC2H1	https://raresource.nih.gov/literature/disease/0003049	0003049	614376	474	C0265275	C537571		intraflagellar transport 172;WD repeat domain 19;dynein 2 intermediate chain 1;dynein cytoplasmic 2 light intermediate chain 1;tetratricopeptide repeat domain 21B;centrosomal protein 120;dynein 2 intermediate chain 2;intraflagellar transport 140;intraflagellar transport 80;dynein cytoplasmic 2 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jeune syndrome"	0	0	818
Hypotrichosis with juvenile macular degeneration	hjmd//hypotrichosis with cone-rod dystrophy//hypotrichosis with juvenile macular dystrophy//hypotrichosis, congenital, with juvenile macular dystrophy//juvenile macular degeneration and hypotrichosis//juvenile macular dystrophy and congenital hypotrichosis//congenital hypotrichosis with juvenile macular dystrophy//hypotrichosis with juvenile macular degeneration//hypotrichosis, congenital, with juvenile macular dystrophy; hjmd	CDH3	CDH3	https://raresource.nih.gov/literature/disease/0003066	0003066	601553	1573	C1832162			cadherin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis with juvenile macular degeneration"	0	0	29
Hypogonadotropic hypogonadism 2 with or without anosmia	autosomal dominant form of kallmann syndrome//fgfr1 hypogonadotropic hypogonadism//fgfr1-related gnrh deficiency (kallmann syndrome 2)//fgfr1-related isolated gonadotropin-releasing hormone (gnrh) deficiency//hh2//hypogonadotropic hypogonadism 2 with or without anosmia, susceptibility to//hypogonadotropic hypogonadism 2 without anosmia//hypogonadotropic hypogonadism 2 without anosmia, susceptibility to//kal2//kallmann syndrome 2//hypogonadotropic hypogonadism 2 with or without anosmia//hypogonadotropic hypogonadism 2 with or without anosmia; hh2//hypogonadotropic hypogonadism caused by mutation in fgfr1	FGFR1	FGFR1	https://raresource.nih.gov/literature/disease/0003070	0003070			C1563720			fibroblast growth factor receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 2 with or without anosmia"	0	0	3
Hypogonadotropic hypogonadism 1 with or without anosmia	anos1 hypogonadotropic hypogonadism//anosmic hypogonadism//dysplasia olfactogenitalis of de morsier//hh1//hha//hypogonadotropic hypogonadism 1 with anosmia//hypogonadotropic hypogonadism and anosmia//kal1//kal1-related gnrh deficiency (kallmann syndrome 1; kallmann syndrome, x-linked)//kal1-related isolated gonadotropin-releasing hormone (gnrh) deficiency//kallmann syndrome 1//kms//kallmann syndrome, x-linked//kallmann syndrome, type 1, x-linked//hypogonadotropic hypogonadism 1 with or without anosmia//hypogonadotropic hypogonadism 1 with or without anosmia; hh1//hypogonadotropic hypogonadism caused by mutation in anos1	ANOS1	ANOS1	https://raresource.nih.gov/literature/disease/0003071	0003071		478	C0162809		E23.0	anosmin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 1 with or without anosmia"	0	0	154
Hypogonadotropic hypogonadism 3 with or without anosmia	hh3//hypogonadotropic hypogonadism 3 with anosmia//kal3//kallmann syndrome 3//prokr2 hypogonadotropic hypogonadism//prokr2-related gnrh deficiency (kallmann syndrome 3)//prokr2-related isolated gonadotropin-releasing hormone (gnrh) deficiency//hypogonadotropic hypogonadism 3 with or without anosmia//hypogonadotropic hypogonadism 3 with or without anosmia; hh3//hypogonadotropic hypogonadism caused by mutation in prokr2	PROKR2	PROKR2	https://raresource.nih.gov/literature/disease/0003073	0003073			C3550478			prokineticin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 3 with or without anosmia"	0	0	516
Kaposiform hemangioendothelioma	congenital cutaneous multifocal kaposiform hemangioendothelioma//kh//khe//kaposiform hemangioendothelioma//kaposiform hemangio-endothelioma	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"	0	0	429
Oculocerebrofacial syndrome, Kaufman type	blepharophimosis-ptosis-intellectual disability syndrome//blepharophimosis-ptosis-mental retardation syndrome//bpid syndrome//bpids//kos//kaufman oculocerebrofacial syndrome//kaufman oculocerebrofacial syndrome; kos//oculocerebrofacial syndrome kaufman type//severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet//blepharophimosis ptosis intellectual disability syndrome//blepharophimosis-ptosis-intellectual disability syndrome; bpids//oculocerebrofacial syndrome, kaufman type//severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet	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"	0	0	45
Autosomal dominant keratitis	dominantly inherited keratitis//hereditary keratitis//keratitis, autosomal dominant//autosomal dominant keratitis//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"	0	0	9
Multiple self-healing squamous epithelioma	ess1 (formerly)//ess1, formerly//epithelioma, self-healing squamous, 1//ferguson-smith-type epithelioma//familial primary self-healing squamous epithelioma of the skin//familial primary self-healing squamous epithelioma of the skin, ferguson-smith type//ferguson-smith tumor//ferguson-smith type epithelioma//ferguson-smith disease//ferguson-smith type//msse//multiple self healing epithelioma of ferguson-smith//multiple keratoacanthoma//multiple keratoacanthoma, ferguson-smith type//multiple self healing squamous epithelioma//multiple self-healing epithelioma of ferguson-smith//self-healing squamous epithelioma type 1//multiple self-healing squamous epithelioma//multiple self-healing squamous epithelioma, susceptibility to//multiple self-healing squamous epithelioma, susceptibility to; msse	TGFBR1	TGFBR1	https://raresource.nih.gov/literature/disease/0003090	0003090	132800	65748	C0546476			transforming growth factor beta receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple self-healing squamous epithelioma"	0	0	360
Keratoderma hereditarium mutilans	congenital deafness with keratopachydermia and constrictions of fingers and toes//deafness, congenital, with keratopachydermia and constrictions of fingers and toes//keratoderma hereditarium mutilans//khm//mutilating keratoderma//mutilating keratoderma of vohwinkel//mutilating keratoderma plus deafness//mutilating keratoderma plus hearing loss//ppk mutilans and deafness//ppk mutilans and hearing loss//palmoplantar keratoderma mutilans//palmoplantar keratoderma mutilans vohwinkel//ppk mutilans vohwinkel//vownkl//vohwinkel syndrome//vohwinkel syndrome; vownkl//vohwinkel's mutilating keratoderma//congenital deafness with keratopachydermia and constrictions fo fingers and toes	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0003092	0003092	124500	494	C0265964			gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratoderma hereditarium mutilans"	0	0	62
Palmoplantar keratoderma-deafness syndrome	diffuse palmoplantar keratoderma with deafness//diffuse palmoplantar keratoderma with deafness (subtype)//focal palmoplantar keratoderma with sensorineural deafness//focal palmoplantar keratoderma with sensorineural deafness (subtype)//hereditary palmoplantar keratoderma with deafness//hereditary palmoplantar keratoderma with deafness (subtype)//keratoderma palmoplantar deafness//keratoderma palmoplantar, with deafness//keratoderma, palmoplantar, with deafness//ppk-deafness syndrome//palmoplantar hyperkeratosis-deafness syndrome//palmoplantar hyperkeratosis-hearing loss syndrome//palmoplantar keratoderma with deafness//palmoplantar keratoderma-deafness syndrome//palmoplantar keratoderma-hearing loss syndrome//palmoplantar keratoderma and sensorineural deafness//palmoplantar keratoderma with deafness syndrome//ppk with deafness	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"	0	0	2
Papillon-Lefèvre syndrome	haim monk syndrome//haim-monk syndrome//hyperkeratosis palmoplantaris with periodontosis//juvenile periodontosis with hyperkeratosis//keratosis palmoplantaris with periodontopathia//keratoris palmoplantaris with periodontopathia//keratosis palmoplantar periodontopathies//keratosis palmoplantar periodontopathy//keratosis palmoplantar - periodontopathy//keratosis palmoplantar-periodontopathy syndrome//pals//papillon-lefevre syndrome//papillon-lefevre syndrome; pals//pls//palmar-plantar hyperkeratosis and concomitant periodontal destruction//palmoplantar periodontopathies, keratosis//palmoplantar keratoderma with periodontosis//papillon lefevre disease//papillon lefevre syndrome//papillon-lefèvre syndrome//papillon-lefevre disease//papillon-lefvre syndrome//papillon-lefvre syndrome (disorder)	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"	0	0	1146
Palmoplantar keratoderma-esophageal carcinoma syndrome	bennion-patterson syndrome//howel-evans syndrome//howell evans syndrome//howell-evans syndrome//keratosis palmaris et plantaris with esophageal cancer//keratosis palmoplantaris with esophageal cancer//keratosis palmoplantaris-esophageal carcinoma syndrome//palmoplantar keratoderma with esophageal cancer//palmoplantar hyperkeratosis-esophageal carcinoma syndrome//toc//tylosis - oesophageal carcinoma//tylosis with esophageal cancer//tylosis-oesophageal carcinoma syndrome//palmoplantar keratoderma-esophageal carcinoma syndrome//tylosis with esophageal cancer; toc	RHBDF2	RHBDF2	https://raresource.nih.gov/literature/disease/0003102	0003102	148500	2198	C1835664			rhomboid 5 homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma-esophageal carcinoma syndrome"	0	0	51
Punctate palmoplantar keratoderma type 1	brauer-buschke-fischer syndrome//buschke-fischer-brauer syndrome//buschke-fischer-brauer type//keratoderma, palmoplantar punctate type 1//keratodermia palmoplantaris papulosa//keratodermia palmoplantaris papulosa, buschke-fischer-brauer type//keratosis palmoplantaris papulosa//ppkp1//punctate palmoplantar keratoderma type i//type i punctate palmoplantar keratoderma//punctate palmoplantar keratoderma type 1	AAGAB;COL14A1	AAGAB;COL14A1	https://raresource.nih.gov/literature/disease/0003103	0003103	614936	79501				alpha and gamma adaptin binding protein;collagen type XIV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Punctate palmoplantar keratoderma type 1"	0	0	20
Tyrosinemia type 2	keratosis palmoplantaris with corneal dystrophy//keratosis palmoplantaris - corneal dystrophy//keratosis palmoplantaris-corneal dystrophy syndrome//oregon type tyrosinemia//oculocutaneous tyrosinemia//richner-hanhart syndrome//richner hanhart syndrome//tat deficiency//tyrosine aminotransferase deficiency//tyrosine transaminase deficiency//tyrosinosis, oculocutaneous type//tyrsn2//tyrosinemia due to tat deficiency//tyrosinemia due to tyrosine aminotransferase deficiency//tyrosinemia type ii//tyrosinosis oculocutaneous type//tyrosinemia type 2//tyrosinemia, type 2//tyrosinemia, type ii//tyrosinemia, type ii; 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 2"	0	0	123
KID syndrome	autosomal dominant kid (keratitis, ichthyosis, deafness) syndrome//autosomal dominant keratitis, ichthyosis, deafness syndrome//ichthyosis hystrix rheydt type//kid syndrome, autosomal dominant//kid/hid syndrome//kidad//keratitis - ichthyosis - deafness/hystrix-like ichthyosis - deafness//keratitis, ichthyosis, and deafness (kid) syndrome//keratitis-ichthyosis-deafness syndrome, autosomal dominant//keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome//keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome//senter syndrome//autosomal dominant kid syndrome//autosomal dominant keratitis-ichthyosis-deafness syndrome	GJB2;GJB6	GJB2;GJB6	https://raresource.nih.gov/literature/disease/0003113	0003113	148210	477	C0265336			gap junction protein beta 2;gap junction protein beta 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KID syndrome"	0	0	165
Kleine-Levin syndrome	familial hibernation (kleine-levin) syndrome//familial kleine levin syndrome//familial kleine-levin syndrome//familial hibernation syndrome//hibernation syndrome, kleine-levin//hypersomnia, periodic//kleine-levin syndrome//kleine levin critchley syndrome//kleine levin hibernation syndrome//kleine levin syndrome//kleine-levin hibernation syndrome//kleine-levin syndrome, familial//kleine-levin-critchley syndrome//periodic hypersomnia//periodic hypersomnias//syndrome, familial kleine-levin//syndrome, kleine-levin//syndrome, kleine-levin hibernation//syndrome, kleine-levin-critchley	TRANK1	TRANK1	https://raresource.nih.gov/literature/disease/0003117	0003117	148840	33543	C0206085	D017593		tetratricopeptide repeat and ankyrin repeat containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kleine-Levin syndrome"	0	0	444
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	baps//bart pumphrey syndrome//bart-pumphrey syndrome//knuckle pads, leukonychia, and sensorineural deafness//knuckle pads, deafness and leukonychia syndrome//knuckle pads, leuconychia and deafness//knuckle pads, leuconychia and sensorineural deafness//knuckle pads, leukonychia, deafness, and keratosis palmoplantaris//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//knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0003125	0003125	149200	2698	C0266004			gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"	0	0	18
Familial partial lipodystrophy, Dunnigan type	dunnigan syndrome//fpl2//fpld2//familial partial lipodystrophy, type 2//familial partial lipodystrophy type 2//lipoatrophic diabetes//lipodystrophy, familial partial, dunnigan type//lipodystrophy, familial, of limbs and lower trunk//lipodystrophy, reverse partial//laminopathy with severe metabolic syndrome and myopathy//lipodystrophy, familial partial, type 2//partial lipodystrophies, reverse//partial lipodystrophy, reverse//partial lipodystrophy, dunnigan//reverse partial lipodystrophies//familial lipodystrophy of limbs and lower trunk//familial partial lipodystrophy dunnigan type//familial partial lipodystrophy, dunnigan type//laminopathy type decaudain-vigouroux//lipodystrophy, familial partial, type 2; fpld2//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"	0	0	243
Amelocerebrohypohidrotic syndrome	epilepsy and yellow teeth//epilepsy, dementia, and amelogenesis imperfecta//epilepsy - dementia - amelogenesis imperfecta//epilepsy dementia amelogenesis imperfecta//epilepsy, dementia and amelogenesis imperfecta//epilepsy, mental deterioration and yellow teeth//epilepsy-dementia-amelogenesis imperfecta syndrome//kohlschutter syndrome//kohlschutter-tonz syndrome; ktzs//ktzs//kohlschutter tonz syndrome//kohlschutter's syndrome//kohlschutter-tonz syndrome//kohlschütter-tönz syndrome//amelocerebrohypohidrotic syndrome	SLC13A5;ROGDI	SLC13A5;ROGDI	https://raresource.nih.gov/literature/disease/0003128	0003128	226750	1946	C0406740			solute carrier family 13 member 5;rogdi atypical leucine zipper	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelocerebrohypohidrotic syndrome"	0	0	29
Hereditary hyperekplexia	congenital stiff man syndrome//exaggerated startle reaction//familial startle disease//hkpx1//hereditary hyperexplexia//hyperekplexia//hyperexplexia hereditary//kok disease//startle disease, familial//startle reaction, exaggerated//sthe//stiff-baby syndrome//stiff-man syndrome, congenital//stiff-person syndrome, congenital//stiff baby syndrome//hereditary hyperekplexia//hyperekplexia 1; hkpx1//hyperekplexia type 1//hyperekplexia, hereditary 1//hyperekplexia, hereditary 1; hkpx1//hyperekplexia, hereditary type 1//startle disease	SLC6A5;GPHN;ATAD1;GLRA1;GLRB	SLC6A5;GPHN;ATAD1;GLRA1;GLRB	https://raresource.nih.gov/literature/disease/0003129	0003129	614619	3197	C1835614			solute carrier family 6 member 5;gephyrin;ATPase family AAA domain containing 1;glycine receptor alpha 1;glycine receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hyperekplexia"	0	0	478
Kuskokwim syndrome	arthrogryposis-like disorder//arthrogryposis-like syndrome//bruck syndrome-1//kuskokwim disease//arthrogryposis like disorder	FKBP10	FKBP10	https://raresource.nih.gov/literature/disease/0003150	0003150	208200	1149	C1859709			FKBP prolyl isomerase 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kuskokwim syndrome"	0	0	6
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	gsd 11//gsd xi//gsd due to lactate dehydrogenase m-subunit deficiency//gsd type 11//gsd11//glycogen storage disease xi//glycogen storage disease type 11//glycogenosis due to lactate dehydrogenase m-subunit deficiency//glycogenosis type 11//lactate dehydrogenase a deficiency//ldh-m subunit deficiency//ldha glycogen storage disease//lactate dehydrogenase deficiency type a//glycogen storage disease xi; gsd11//glycogen storage disease caused by mutation in ldha//glycogen storage disease due to lactate dehydrogenase m-subunit deficiency	LDHA	LDHA	https://raresource.nih.gov/literature/disease/0003160	0003160	612933	284426	C2931743			lactate dehydrogenase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	0	0	10
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	gsd due to lactate dehydrogenase h-subunit deficiency//glycogenosis due to lactate dehydrogenase h-subunit deficiency//ldh deficiency b//ldh-h subunit deficiency//ldhbd//lactate dehydrogenase b deficiency//lactate dehydrogenase deficiency type b//glycogen storage disease due to lactate dehydrogenase h-subunit deficiency//lactate dehydrogenase b deficiency; ldhbd	LDHB	LDHB	https://raresource.nih.gov/literature/disease/0003161	0003161	614128	284435	C3279904			lactate dehydrogenase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"	0	0	2
Fatal infantile lactic acidosis with methylmalonic aciduria	lactic acidosis, fatal infantile, formerly//lactic acidosis congenital infantile//mtdps9//suclg1 mitochondrial dna depletion syndrome//fatal infantile lactic acidosis//fatal infantile lactic acidosis with methylmalonic aciduria//lactic acidosis, fatal infantile//mitochondrial dna depletion syndrome 9//mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)//mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); mtdps9//mitochondrial dna depletion syndrome caused by mutation in suclg1//mitochondrial dna depletion syndrome type 9	SUCLG1	SUCLG1	https://raresource.nih.gov/literature/disease/0003163	0003163	245400	17				succinate-CoA ligase GDP/ADP-forming subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal infantile lactic acidosis with methylmalonic aciduria"	0	0	13
Ichthyosis, congenital, autosomal recessive 1	1//arci1//collodion baby, self-healing//collodion fetus//congenita ii, ichthyosis//congenita iis, ichthyosis//desquamation of newborn//ichthyosis congenita//ichthyosis congenita ii//ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution//ichthyosis, lamellar, 1, formerly//icr2//ichthyosis//ichthyosis congenita iis//ichthyosis lamellar 1//lamellar exfoliation of newborn//li1//li1, formerly//lamellar ichthyosis, type 1//shcb//autosomal recessive 1//autosomal recessive congenital ichthyosis type 1//collodion baby//congenital//formerly//ichthyosis congenita 2//ichthyosis, congenital, autosomal recessive 1//ichthyosis, congenital, autosomal recessive 1; arci1//ichthyosis, congenital, autosomal recessive type 1//ichthyosis, lamellar, 1//lamellar//self-healing//with bathing suit distribution	TGM1	TGM1	https://raresource.nih.gov/literature/disease/0003170	0003170		313	C0020758		Q80	transglutaminase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, congenital, autosomal recessive 1"	0	0	5003
Graham Little-Piccardi-Lassueur syndrome	graham little syndrome//graham-little-piccardi-lassueur syndrome//piccardi-lassueur-little syndrome	HLA-DRA	HLA-DRA	https://raresource.nih.gov/literature/disease/0003195	0003195		505				major histocompatibility complex, class II, DR alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Graham Little-Piccardi-Lassueur syndrome"	0	0	262
Retinal cone dystrophy 1	cone dystrophy, autosomal dominant//cone dystrophy autosomal dominant//rcd1//retinal cone degeneration//retinal cone dystrophy 1//retinal cone dystrophy 1; rcd1	RCD1	RCD1	https://raresource.nih.gov/literature/disease/0003196	0003196		1871	C1867326			Retinal cone dystrophy-1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal cone dystrophy 1"	0	0	21
Early-onset parkinsonism-intellectual disability syndrome	basal ganglion disorder with mental retardation//bgmr//basal ganglia disorder with mental retardation//early onset parkinsonism and intellectual disability syndrome//laxova brown hogan syndrome//laxova opitz syndrome//laxova-opitz syndrome//parkinsonism, early-onset, with mental retardation//parkinsonism, early onset with intellectual disability//parkinsonism, early onset with mental retardation//parkinsonism, early-onset, with intellectual disability//waisman syndrome; wsmn//wsmn//wsn//waisman syndrome//x-linked recessive basal ganglia disorder with intellectual disability//x-linked recessive basal ganglia disorder with mental retardation//basal ganglia disorder with intellectual disability//basal ganglion disorder with intellectual disability//early-onset parkinsonism-intellectual disability syndrome	RAB39B	RAB39B	https://raresource.nih.gov/literature/disease/0003203	0003203	311510	2379	C0796195			RAB39B, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset parkinsonism-intellectual disability syndrome"	0	0	81
Branchio-oculo-facial syndrome	bof syndrome//bofs//bofs syndrome//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 aging//branchio oculo facial syndrome//branchio-oculo-facial syndrome//branchiooculofacial syndrome//hemangiomatous branchial clefts-lip pseudocleft syndrome//hemangiomatous branchial clefts lip pseudocleft syndrome//lip pseudocleft-hemangiomatous branchial cyst syndrome//lee root fenske syndrome//lip pseudocleft hemangiomatous branchial cyst syndrome//syndrome, bof//branchiooculofacial syndrome; bofs	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[]=Branchio-oculo-facial syndrome"	0	0	95
Lenz-Majewski hyperostotic dwarfism	delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis//hyperostotic dwarfism lenz-majewski type//lenz-majewski syndrome//lmhd//lenz majewski hyperostotic dwarfism//lenz-majewski hyperostotic dwarfism//lenz-majewski dysplasia//lenz-majewski hyperostosis syndrome//lenz-majewski hyperostotic dwarfism; lmhd//lenz-majewski hyperostotic dysplasia//multiple congenital anomalies, mental retardation and progressive skeletal sclerosis//multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis//multiple congenital anomalies, intellectual disability 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 hyperostotic dwarfism"	0	0	25
Léri-Weill dyschondrosteosis	carpus curvus//dco//dyschondrosteosis//foreshortened ulna (madelung deformity)//lc)ri-weill dyschondrosteosis//lc)ri-weill syndrome//lwd//leri weill dyschondrosteosis//leri-weil syndrome//leri-weill dyschondrosteosis//leri-weill dyschondrosteosis; lwd//leri-weill syndrome//léri-weill syndrome//madelung deformity//madelung deformity, bilateral//madelung deformity, unilateral//madelung wrist deformity//madelung's deformity//shox-related haploinsufficiency disorders	SHOX	SHOX	https://raresource.nih.gov/literature/disease/0003224	0003224	127300	240	C0265309	C537119		short stature homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Léri-Weill dyschondrosteosis"	0	0	577
Lethal congenital contracture syndrome type 1	finnish type//gle1 lethal congenital contracture syndrome//herva disease//lccs//lccs1//lethal autosomal recessive syndrome of multiple congenital contractures//lethal congenital contracture syndrome 1//multiple contracture syndrome, finnish type//multiple contracture syndrome//multiple contracture syndrome finnish type//lethal congenital contracture syndrome 1; lccs1//lethal congenital contracture syndrome caused by mutation in gle1//lethal congenital contracture syndrome type 1	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 type 1"	0	0	54
Autosomal dominant popliteal pterygium syndrome	cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies//cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies//faciogenitopopliteal syndrome//facio-genito-popliteal syndrome//pps//popliteal pterygium syndrome//popliteal web syndrome//autosomal dominant popliteal pterygium syndrome//popliteal pterygium syndrome, autosomal dominant//popliteal pterygium syndrome; pps	IRF6	IRF6	https://raresource.nih.gov/literature/disease/0003242	0003242	119500	1300				interferon regulatory factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant popliteal pterygium syndrome"	0	0	856
Pyruvate dehydrogenase E3 deficiency	autosomal recessive congenital methemoglobinemia//chronic familial methemoglobin reductase deficiency//congenital nadh-methemoglobin reductase deficiency//congenital infantile lactic acidosis due to lad deficiency//congenital methemoglobinemia due to nadh-cytochrome b5 reductase 3 deficiency//cytochrome b5 reductase deficiency//cytochrome-b reductase deficiency//dihydrolipoamide dehydrogenase deficiency//dld - dihydrolipoamide dehydrogenase deficiency//dld deficiency//dldd//deficiency of cytochrome-b>5< reductase//deficiency of diaphorase//deficiency of dihydrolipoamide dehydrogenase//deficiency of lipoamide reductase (nadh)//diaphorase deficiency//dihydrolipoamide dehydrogenase (e3) deficiency//dihydrolipoamide dehydrogenase e3 deficiency//dihydrolipoyl dehydrogenase deficiency//e3 deficiency//e3-deficient maple syrup urine disease//lipoamide dehydrogenase deficiency, lactic acidosis due to//lactic acidosis due to lad deficiency//lipoamide dehydrogenase deficiency//maple syrup urine disease, type iii//methemoglobinemia, congenital, autosomal recessive//msud3//maple syrup urine disease with lactic acidosis//methemoglobinemia due to deficiency of methemoglobin reductase//nadh diaphorase deficiency//nadh methemoglobin reductase deficiency//nadh-cytochrome b5 reductase deficiency//nadh-cytochrome b5 reductase deficiency, type 1//nadh-cytochrome b5 reductase deficiency, type 2//nadh-dependent methemoglobin reductase deficiency//nadh-methemoglobin reductase deficiency//dihydrolipoamide dehydrogenase deficiency; dldd//maple syrup urine disease, type 3//methemoglobinemia, type 1//methemoglobinemia, type 2//pyruvate dehydrogenase e3 deficiency	DLD	DLD	https://raresource.nih.gov/literature/disease/0003263	0003263	246900	2394				dihydrolipoamide dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E3 deficiency"	0	0	127
Lipoid proteinosis	hyalinosis cutis et mucosae//lipoid proteinosis//lipid proteinosis//lipid proteinosis (disorder)//lipoid proteinosis of urbach and wiethe//lipoid proteinosis, urbach-wiethe//lipoidosis cutis et mucosae//lipoidproteinosis//lipoproteinosis//urbach-wiethe disease//urbach wiethe disease//urbach wiethe lipoid proteinosis//urbach-wiethe lipoid proteinosis//urbach-wiethe syndrome	ECM1	ECM1	https://raresource.nih.gov/literature/disease/0003268	0003268	247100	530	C0023795			extracellular matrix protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipoid proteinosis"	0	0	550
Romano-Ward syndrome	long qt syndrome 1, acquired, susceptibility to//long qt syndrome 1/2, digenic//lqt1//lqt1/2, digenic//long qt syndrome 1//long qt syndrome type 1//romano-ward syndrome//rws//romano ward syndrome//romano-ward long qt syndrome//syndrome, romano-ward//syndrome, ward-romano//ventricular fibrillation with prolonged qt interval//ward-romano syndrome//wrs//ward romano syndrome//long qt syndrome 1; lqt1	KCNE1;TBX5;TRDN;SCN5A;SCN4B;SCN10A;CALM1;KCNQ1;KCNJ5;KCNH2;CALM2;CALM3;CAV3;NOS1AP;AKAP9;ANK2;KCNE2;SNTA1;CACNA1C	KCNE1;TBX5;TRDN;SCN5A;SCN4B;SCN10A;CALM1;KCNQ1;KCNJ5;KCNH2;CALM2;CALM3;CAV3;NOS1AP;AKAP9;ANK2;KCNE2;SNTA1;CACNA1C	https://raresource.nih.gov/literature/disease/0003284	0003284	616249	101016	C0035828	D029597		potassium voltage-gated channel subfamily E regulatory subunit 1;T-box transcription factor 5;triadin;sodium voltage-gated channel alpha subunit 5;sodium voltage-gated channel beta subunit 4;sodium voltage-gated channel alpha subunit 10;calmodulin 1;potassium voltage-gated channel subfamily Q member 1;potassium inwardly rectifying channel subfamily J member 5;potassium voltage-gated channel subfamily H member 2;calmodulin 2;calmodulin 3;caveolin 3;nitric oxide synthase 1 adaptor protein;A-kinase anchoring protein 9;ankyrin 2;potassium voltage-gated channel subfamily E regulatory subunit 2;syntrophin alpha 1;calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Romano-Ward syndrome"	0	0	539
Long qt syndrome 2	long qt syndrome 1/2, digenic//long qt syndrome 2, acquired, reduced susceptibility to//long qt syndrome 2, acquired, susceptibility to//long qt syndrome 2/3, digenic//long qt syndrome 2/5, digenic//long qt syndrome 2/9, digenic//lqt1/2, digenic//lqt2//lqt2/3, digenic//lqt2/5, digenic//lqt2/9, digenic//long qt syndrome 2//long qt syndrome 2; lqt2//long qt syndrome type 2	ALG10B;KCNH2	ALG10B;KCNH2	https://raresource.nih.gov/literature/disease/0003285	0003285			C3276240			ALG10 alpha-1,2-glucosyltransferase B;potassium voltage-gated channel subfamily H member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 2"	0	0	326
Long qt syndrome 3	long qt syndrome 2/3, digenic//long qt syndrome 3, acquired, susceptibility to//long qt syndrome 3/6, digenic//lqt2/3, digenic//lqt3//lqt3/6, digenic//long qt syndrome 3//scn5a long qt syndrome//scn5a-related romano ward syndrome//long qt syndrome 3; lqt3//long qt syndrome caused by mutation in scn5a//long qt syndrome type 3	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0003286	0003286			C3276241			sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 3"	0	0	266
Oculocerebrorenal syndrome of Lowe	cerebro oculo renal syndrome//cerebro-oculo-renal syndrome//cerebro-oculorenal dystrophy//cerebrooculorenal syndrome//deficiency, phosphatidylinositol-4,5-bisphosphate-5-phosphatase//dystrophy, oculocerebrorenal//lowe syndrome//lowe bickel syndrome//lowe disease//lowe oculocerebrorenal syndrome//lowe terrey maclachlan syndrome//lowe oculo-cerebro-renal dystrophy//lowe oculo-cerebro-renal syndrome//lowe oculocerebrorenal dystrophy//lowe oculocerebrorenal syndrome; ocrl//lowe-bickel syndrome//lowe-terrey-maclachlan syndrome//ocr//ocrl//ocrl1//oculo-cerebro-renal syndrome//oculocerebrorenal dystrophy//oculocerebrorenal syndrome//oculocerebrorenal syndrome of lowe//phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency//phosphatidylinositol 4,5 bisphosphate 5 phosphatase deficiency//phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency//phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency//renal oculocerebrodystrophy//renal-oculocerebrodystrophy//oculo-cerebro-renal dystrophy	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[]=Oculocerebrorenal syndrome of Lowe"	0	0	1443
Lujan-Fryns syndrome	intellectual developmental disorder, x-linked, syndromic, lujan-fryns type//lujan-fryns syndrome//lujan fryns syndrome//lujan syndrome//med12-related disorders//mental retardation, x-linked, with marfanoid habitus, 1//mrxslf//marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies//marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies//mental retardation, x-linked, with marfanoid habitus//x-linked intellectual deficit with marfanoid habitus//x-linked mental retardation with marfanoid habitus//x-linked intellectual disability with marfanoid habitus//x-linked mental retardation with marfanoid habitus syndrome//xlmr with marfanoid features//xlmr with marfanoid habitus//intellectual disability, x-linked, with marfanoid habitus	MED12;ZDHHC9;UPF3B	MED12;ZDHHC9;UPF3B	https://raresource.nih.gov/literature/disease/0003307	0003307	300799	776	C0796022			mediator complex subunit 12;zinc finger DHHC-type palmitoyltransferase 9;UPF3B regulator of nonsense mediated mRNA decay	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lujan-Fryns syndrome"	0	0	46
Cerebellar ataxia-hypogonadism syndrome	cahh//cerebellar ataxia and hypogonadotropic hypogonadism//cerebellar ataxia - hypogonadism//cerebellar ataxia hypogonadotropic hypogonadism//gdhs//gordon holmes syndrome//gordon holmes syndrome; gdhs//gordon-holmes syndrome//lhrh deficiency and ataxia//luteinizing hormone-releasing hormone, deficiency of, with ataxia//luteinizing hormone releasing hormone, deficiency of with ataxia//luteinizing hormone-releasing hormone deficiency with ataxia//cerebellar ataxia-hypogonadism syndrome	RNF216;PNPLA6	RNF216;PNPLA6	https://raresource.nih.gov/literature/disease/0003314	0003314	212840	1173	C1859305			ring finger protein 216;patatin like phospholipase domain containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebellar ataxia-hypogonadism syndrome"	0	0	39
Hennekam syndrome	hklls1//hennekam lymphangiectasia lymphedema syndrome//hennekam lymphangiectasia-lymphedema syndrome//intestinal lymphagiectasia lymphedema intellectual deficit syndrome//lymphangiectasies and lymphedema hennekam type//lymphedema - lymphangiectasia - intellectual disability//lymphedema, lymphangiectasia, intellectual disability syndrome//lymphedema-lymphangiectasia-intellectual disability syndrome//lymphedem-lymphangiectasia-intellectual disability syndrome	FAT4;ADAMTS3;CCBE1	FAT4;ADAMTS3;CCBE1	https://raresource.nih.gov/literature/disease/0003318	0003318	618154	2136	C0340834			FAT atypical cadherin 4;ADAM metallopeptidase with thrombospondin type 1 motif 3;collagen and calcium binding EGF domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hennekam syndrome"	0	0	60
Lymphangioleiomyomatosis	lam//lymphangiomyomatosis//lymphangio-myomatosis//lymphangioleiomyomatoses//lymphangioleiomyomatosis, somatic//lymphangiomyomatoses//tsc1-related lymphangioleiomyomatosis//lung lymphangioleiomyomatosis//lung lymphangiomyomatosis//lymphangioleiomyomatosis//lymphangioleiomyomatosis; lam//pulmonary lymphangioleiomyomatosis//pulmonary lymphangiomyomatosis	TSC1;TSC2	TSC1;TSC2	https://raresource.nih.gov/literature/disease/0003319	0003319	606690	538	C0751674	D018192		TSC complex subunit 1;TSC complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphangioleiomyomatosis"	0	0	2103
Meige disease	blepharospasm - oromandibular dystonia//blepharospasm oromandibular dyskinesia//blepharospasm oromandibular dystonia//blepharospasm oromandibular dystonia syndrome//blepharospasm oromandibular dystonia syndrome, idiopathic//blepharospasm-oromandibular dyskinesia//blepharospasm-oromandibular dyskinesias//blepharospasm-oromandibular dystonia//blepharospasm-oromandibular dystonia syndrome//blepharospasm-oromandibular dystonia syndrome, idiopathic//blepharospasm-oromandibular dystonia syndromes//blepharospasm-oromandibular dystonias//brueghel syndrome//dyskinesia, blepharospasm-oromandibular//dyskinesia, idiopathic orofacial//dyskinesias, blepharospasm-oromandibular//dyskinesias, idiopathic orofacial//dystonia syndrome, blepharospasm-oromandibular//dystonia syndromes, blepharospasm-oromandibular//dystonia, blepharospasm-oromandibular//dystonias, blepharospasm-oromandibular//hereditary lymphedema type ii//idiopathic blepharospasm oromandibular dystonia syndrome//idiopathic blepharospasm-oromandibular dystonia syndrome//idiopathic orofacial dyskinesia//idiopathic orofacial dyskinesias//lmph2//lmph2, formerly//lmphm5//lymphedema praecox//lymphedema, hereditary, ii, formerly//lymphedema, late-onset//lymphedema hereditary type 2//lymphedema, hereditary, ii//meige disease//meige lymphedema//meige dystonia//meige syndrome//meige's syndrome//oral facial dystonia//orofacial dyskinesia, idiopathic//orofacial dyskinesias, idiopathic//segmental cranial dystonia//syndrome, blepharospasm-oromandibular dystonia//late-onset lymphedema//late-onset primary lymphedema//lymphatic malformation 5//lymphedema preacox//lymphedema, hereditary, ii; lmph2	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0003324	0003324	153200	90186	C0025183	D008538		EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meige disease"	0	0	372
Lymphatic malformation 1	nonne-milroy lymphedema//early-onset//formerly//hereditary//ia//lymphedema//milroy disease//primary congenital lymphedema//type i	FLT4	FLT4	https://raresource.nih.gov/literature/disease/0003328	0003328			C1704423		Q82.0	fms related receptor tyrosine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphatic malformation 1"	0	0	12803
Lysinuric protein intolerance	hyperdibasic aminoaciduria//lpi	SLC7A7	SLC7A7	https://raresource.nih.gov/literature/disease/0003335	0003335	222700	470	C0268647			solute carrier family 7 member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lysinuric protein intolerance"	0	0	306
Blepharophimosis-intellectual disability syndrome, Ohdo type	absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities//bmrs//blepharophimosis syndrome//madokoro ohdo sonoda syndrome//ohdo syndrome//ohdo type//ohdo-madokoro-sonoda syndrome//tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality//tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities	SMARCA2	SMARCA2	https://raresource.nih.gov/literature/disease/0003348	0003348	249620	2728	C0796094			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blepharophimosis-intellectual disability syndrome, Ohdo type"	0	0	126
Autosomal dominant primary hypomagnesemia with hypocalciuria	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//magnesium wasting, renal//renal hypomagnesemia 2//renal hypomagnesemia type 2//renal magnesium wasting//autosomal dominant primary hypomagnesemia with hypocalciuria//familial primary hypomagnesemia caused by mutation in fxyd2//hypomagnesemia 2, renal//hypomagnesemia 2, renal; homg2//primary hypomagnesemia caused by mutation in fxyd2	FXYD2	FXYD2	https://raresource.nih.gov/literature/disease/0003350	0003350	154020	34528	C1835171			FXYD domain containing ion transport regulator 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant primary hypomagnesemia with hypocalciuria"	0	0	7045
Malonic aciduria	deficiency of malonyl-coa decarboxylase//deficiency of malonyl-coenzyme a decarboxylase//mcd deficiency//malonic acidemia//malonicaciduria//malonyl-coa decarboxylase deficiency//malonyl-coenzyme a decarboxylase deficiency//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[]=Malonic aciduria"	0	0	54
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//congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome//congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism//dcm-hh//dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome//dilated cardiomyopathy with hypergonadotropic hypogonadism//dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome//familial cardiomyopathy, hypogonadism, and collagenoma//genital anomaly with cardiomyopathy//malouf syndrome//najjar syndrome//cardiomyopathy eith primary testicular failure//congestive cardiomyopathy with hypergonadotropic hypogonadism//dilated cardiomyopathy with premature ovarian failure	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"	0	0	6
Mandibuloacral dysplasia with type A lipodystrophy	craniomandibular dermatodysostosis//lipodystrophy, type a, associated with mandibuloacral dysplasia//mada//mandibuloacral dysplasia with type a lipodystrophy, atypical//mandibuloacral dysplasia with type a lipodystrophy; mada//mandibuloacral dysplasia with type a lipodystrophy	LMNA;MTX2	LMNA;MTX2	https://raresource.nih.gov/literature/disease/0003374	0003374	248370	90153		C535705		lamin A/C;metaxin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibuloacral dysplasia with type A lipodystrophy"	0	0	22
Van den Ende-Gupta syndrome	blepharophimosis, arachnodactyly, and congenital contractures//marden-walker-like syndrome without psychomotor retardation//marden walker like syndrome//marden walker like syndrome without psychomotor retardation//marden-walker-like syndrome//marden-walker-like syndrome without psychmotor retardation//van den ende-gupta syndrome; vdegs//vdegs//van den ende-gupta syndrome//van den ende gupta syndrome	SCARF2	SCARF2	https://raresource.nih.gov/literature/disease/0003382	0003382	600920	2460	C1833136			scavenger receptor class F member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van den Ende-Gupta syndrome"	0	0	19
Marie Unna hereditary hypotrichosis	hypotrichosis//hypotrichosis, marie unna type//muhh//marie unna congenital hypotrichosis//marie unna syndrome//marie unna type	EPS8L3;HR	EPS8L3;HR	https://raresource.nih.gov/literature/disease/0003390	0003390	612841	444	C2931059	C535912		EPS8 like 3;HR lysine demethylase and nuclear receptor corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marie Unna hereditary hypotrichosis"	0	0	652
Oculotrichoanal syndrome	manitoba oculotrichoanal syndrome; mota//marles syndrome//mota//mota - manitoba oculotrichoanal syndrome//mota syndrome//manitoba oculotrichoanal syndrome//manitoba trichoanal syndrome//marles greenberg persaud syndrome//marles-greenberg-persaud syndrome//marles-greenburg-persaud syndrome//unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies//oculotrichoanal syndrome	FREM1	FREM1	https://raresource.nih.gov/literature/disease/0003395	0003395	248450	2717	C1855425			FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculotrichoanal syndrome"	0	0	13
Osteocraniostenosis	gcleb//gracile bone dysplasia//habrodysplasia//osteocraniosplenic syndrome//osteocraniostenosis//skeletal dysplasia, lethal, with gracile bones//skeletal dysplasia lethal with gracile bones//gracile bone dysplasia; gcleb	FAM111A	FAM111A	https://raresource.nih.gov/literature/disease/0003396	0003396	602361	2763	C1865639			FAM111 trypsin like peptidase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteocraniostenosis"	0	0	25
Cataract-intellectual disability-hypogonadism syndrome	cataract-mental retardation-hypogonadism//cataract, mental retardation, hypogonadism//congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome//marts//marts1//martsolf syndrome//martsolf syndrome 1//cataract-intellectual disability-hypogonadism//cataract-intellectual disability-hypogonadism syndrome	RAB3GAP2;RAB3GAP1	RAB3GAP2;RAB3GAP1	https://raresource.nih.gov/literature/disease/0003406	0003406	212720	1387	C0796037			RAB3 GTPase activating non-catalytic protein subunit 2;RAB3 GTPase activating protein catalytic subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract-intellectual disability-hypogonadism syndrome"	0	0	21
Maternal phenylketonuria	hyperphenylalaninemic embryopathy//mpku//maternal pku//maternal phenylalanine hydroxylase deficiency disease//maternal hyperphenylalaninemia//pku, maternal//phenylalanine hydroxylase deficiency disease, maternal//phenylalanine-hydroxylase deficiency disease, maternal//phenylketonuria, maternal//phenylketonuria, pregnancy in//phenylketonuric embryopathy//pregnancy in phenylketonuria//maternal phenylketonuria	PAH	PAH	https://raresource.nih.gov/literature/disease/0003413	0003413	261600	2209	C0085547			phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maternal phenylketonuria"	0	0	346
Familial scaphocephaly syndrome, McGillivray type	scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0003426	0003426	609579	168624	C1865070			fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial scaphocephaly syndrome, McGillivray type"	0	0	2036
McKusick-Kaufman syndrome	hmcs//hydrometrocolpos syndrome//hydrometrocolpos, postaxial polydactyly, and congenital heart malformation//hydrometrocolpos - postaxial polydactyly//hydrometrocolpos-postaxial polydactyly syndrome//kaufman-mckusick syndrome//kaufman mckusick syndrome//mckusick-kaufman syndrome; mkks//mkks//mckusick kaufman syndrome//mckusick-kaufman syndrome	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"	0	0	100
Meacham syndrome	double vagina, cardiac, pulmonary, and other genital malformations with 46,xy karyotype//meacham winn culler syndrome//meacham-winn-culler syndrome//rhabdomyomatous dysplasia - cardiopathy - genital anomalies//rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome	WT1	WT1	https://raresource.nih.gov/literature/disease/0003432	0003432	608978	3097	C2931752			WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meacham syndrome"	0	0	5
Meckel syndrome	cerebrorenodigital syndrome with limb malformations and triradiate acetabula//cerebrorenodigital syndrome//dysencephalia splanchnocystica//dysencephalia splachnocystica//gruber syndrome//meckel syndrome//meckel-gruber syndrome//meckel-gruber syndrome, type 1//mes//mks//mks1//mks1 meckel syndrome//mks1-related meckel syndrome//meckel gruber syndrome//meckel syndrome, type 1//meckel syndrome 1//meckel syndrome caused by mutation in mks1//meckel syndrome type 1//meckel syndrome type1//meckel syndrome, type 1; mks1	B9D1;TCTN3;TXNDC15;TMEM237;RPGRIP1;CC2D2A;MKS1;TMEM216;RPGRIP1L;CEP290;B9D2;TMEM107;CSPP1;TCTN1;TCTN2;TMEM231;TMEM67	B9D1;TCTN3;TXNDC15;TMEM237;RPGRIP1;CC2D2A;MKS1;TMEM216;RPGRIP1L;CEP290;B9D2;TMEM107;CSPP1;TCTN1;TCTN2;TMEM231;TMEM67	https://raresource.nih.gov/literature/disease/0003436	0003436	611134	564	C0265215			B9 domain containing 1;tectonic family member 3;thioredoxin domain containing 15;transmembrane protein 237;RPGR interacting protein 1;coiled-coil and C2 domain containing 2A;MKS transition zone complex subunit 1;transmembrane protein 216;RPGRIP1 like;centrosomal protein 290;B9 domain containing 2;transmembrane protein 107;centrosome and spindle pole associated protein 1;tectonic family member 1;tectonic family member 2;transmembrane protein 231;transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome"	0	0	816
Megacystis-microcolon-intestinal hypoperistalsis syndrome	berdon syndrome//megacystis-microcolon-intestinal hypoperistalsis syndrome//mmih syndrome//mmihs//mmihs megacystis microcolon intestinal hypoperistalsis syndrome//mmihs1//megacystis microcolon intestinal hypoperistalsis syndrome//megacystis, microcolon, intestinal hypoperistalsis syndrome//megacystis, microcolon, hypoperistalsis syndrome//megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome//megacystis-microcolon-intestinal hypoperistalsis syndrome, mmih//megacystis-microcolon-intestinal hypoperistalsis syndrome; mmihs//visceral myopathy	MYH11;MYLK;LMOD1;ACTG2	MYH11;MYLK;LMOD1;ACTG2	https://raresource.nih.gov/literature/disease/0003442	0003442	249210	2241	C1608393			myosin heavy chain 11;myosin light chain kinase;leiomodin 1;actin gamma 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megacystis-microcolon-intestinal hypoperistalsis syndrome"	0	0	318
Familial visceral myopathy	familial hollow visceral myopathy//hereditary hollow visceral myopathy//hereditary hollow viscus myopathy//megaduodenum and/or megacystis//pseudoobstruction idiopathic intestinal//visceral myopathy, familial//visceral myopathy familial//familial visceral myopathy	ACTG2	ACTG2	https://raresource.nih.gov/literature/disease/0003443	0003443	155310	2604	C0266833			actin gamma 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial visceral myopathy"	0	0	30
Megalencephalic leukoencephalopathy with subcortical cysts	infantile leukoencephalopathy and megalencephaly//leukoencephalopathy with swelling and cysts//lvm//leukoencephalopathy with swelling and a discrepantly mild course//mlc//mlc1//megalencephalic leukodystrophy//megalencephaly - cystic leukodystrophy//megalencephaly-cystic leukodystrophy//megalencephaly-cystic leukodystrophy syndrome//vacuolating megalencephalic leukoencephalopathy with subcortical cysts//van der knaap disease//vl//vacuolating leukoencephalopathy//van der knapp disease//van der knaap syndrome//megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome//megalencephalic leukoencephalopathy with subcortical cysts//megalencephalic leukoencephalopathy with subcortical cysts 1//megalencephalic leukoencephalopathy with subcortical cysts 1; mlc1//megalencephalic leukoencephalopathy with subcortical cysts type 1	HEPACAM;MLC1	HEPACAM;MLC1	https://raresource.nih.gov/literature/disease/0003445	0003445	613926	2478	C1858854			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"	0	0	4206
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	fhhnc with severe ocular involvement//fhhncoi//homg5//hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement//hypomagnesemia, renal, with ocular involvement//hypercalciuria - bilateral macular coloboma//hypercalciuria-bilateral macular coloboma syndrome//idiopathic hypercalciuria with bilateral macular colobomata//macular coloboma, bilateral, with hypercalciuria//meier blumberg imahorn syndrome//meier-blumberg-imahorn syndrome//bilateral macular coloboma with hypercalciuria//familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement//familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement//hypomagnesemia 5, renal, with ocular involvement//hypomagnesemia 5, renal, with ocular involvement; homg5	CLDN19	CLDN19	https://raresource.nih.gov/literature/disease/0003451	0003451	248190	2196	C1855466			claudin 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"	0	0	None
Familial melanoma	b-k mole syndrome//dns//dysplastic nevus syndrome, hereditary//familial atypical mole-malignant melanoma syndrome//familial atypical multiple mole melanoma-pancreatic carcinoma syndrome//famm syndrome//famm-pc syndrome//fammm//fammm syndrome//familial cutaneous melanoma//familial melanoma//hereditary cutaneous (skin) melanoma//hereditary cutaneous melanoma//hereditary melanoma//melanoma, familial//mlm//melanoma-pancreatic cancer syndrome//familial clark nevus syndrome//familial atypical mole melanoma syndrome//familial atypical mole syndrome//familial dysplastic nevus syndrome//hereditary melanoma (disease)	MITF;MGMT;BAP1;TERT;CDK4;CDKN2A;CDKN2B;TERF2IP;ACD;MC1R;POT1	MITF;MGMT;BAP1;TERT;CDK4;CDKN2A;CDKN2B;TERF2IP;ACD;MC1R;POT1	https://raresource.nih.gov/literature/disease/0003460	0003460	155600	618	C2314896			melanocyte inducing transcription factor;O-6-methylguanine-DNA methyltransferase;BRCA1 associated protein 1;telomerase reverse transcriptase;cyclin dependent kinase 4;cyclin dependent kinase inhibitor 2A;cyclin dependent kinase inhibitor 2B;TERF2 interacting protein;ACD shelterin complex subunit and telomerase recruitment factor;melanocortin 1 receptor;protection of telomeres 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial melanoma"	0	0	292
Severe intellectual disability-progressive spastic diplegia syndrome	ctnnb1 syndrome//ctnnb1-related intellectual disability//intellectual disability, autosomal dominant 19//mental retardation, autosomal dominant 19, formerly//mrd19//mrd19, formerly//nedsdv//neurodevelopmental disorder with spastic diplegia and visual defects//autosomal dominant intellectual disability 19//autosomal dominant mental retardation 19//autosomal dominant non-syndromic intellectual disability 19//intellectual disability, autosomal dominant 19; mrd19//intellectual disability, autosomal dominant type 19//mental retardation, autosomal dominant 19//mental retardation, autosomal dominant 19; mrd19//mental retardation, autosomal dominant type 19//severe intellectual disability-progressive spastic diplegia syndrome	CTNNB1	CTNNB1	https://raresource.nih.gov/literature/disease/0003505	0003505	615075	404473				catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-progressive spastic diplegia syndrome"	0	0	14
X-linked intellectual disability-psychosis-macroorchidism syndrome	intellectual deficit, x-linked - psychosis - macroorchidism//lindsay-burn syndrome//mental retardation with psychosis, pyramidal signs, and macroorchidism//mental retardation, x-linked 16//mental retardation, x-linked 79//mental retardation, x-linked, with spasticity//mrx16//mrx79//mrxs13//mental retardation psychosis macroorchidism//mental retardation, x-linked, syndromic 13//ppm-x//ppm-x syndrome//ppmx//x-linked intellectual disability 79//x-linked intellectual disability with spasticity//x-linked mental retardation 79//x-linked mental retardation with spasticity//intellectual disability psychosis macroorchidism//intellectual disability with psychosis, pyramidal signs, and macroorchidism//intellectual disability, x-linked 16//intellectual disability, x-linked 79//intellectual disability, x-linked, syndromic 13//intellectual disability, x-linked, syndromic 13; mrxs13//intellectual disability, x-linked, syndromic type 13//intellectual disability, x-linked, with spasticity//mental retardation, x-linked, syndromic 13; mrxs13//mental retardation, x-linked, syndromic type 13	MECP2	MECP2	https://raresource.nih.gov/literature/disease/0003506	0003506	300055	3077	C3713418			methyl-CpG binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-psychosis-macroorchidism syndrome"	0	0	5
Intellectual disability-hypotonic facies syndrome, x-linked, 1	1//mental retardation-hypotonic facies syndrome//carpenter-waziri syndrome//chudley-lowry syndrome//holmes-gang syndrome//sfms//smith-fineman-myers syndrome 1//x-linked//xlmr-hypotonic facies syndrome	ATRX	ATRX	https://raresource.nih.gov/literature/disease/0003521	0003521			C4759781			ATRX chromatin remodeler	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-hypotonic facies syndrome, x-linked, 1"	0	0	1527
Monoamine oxidase A deficiency	antisocial behavior, susceptibility to//brnrs//brunner syndrome//brunner syndrome; brnrs//deficiency of monoamine oxidase a//monoamine oxidase a deficiency	MAOA	MAOA	https://raresource.nih.gov/literature/disease/0003531	0003531	300615	3057	C0796275			monoamine oxidase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monoamine oxidase A deficiency"	0	0	23
Langer mesomelic dysplasia	dyschondrosteosis, homozygous//dyschondrosteosis homozygous//homozygous leri-weill dyschondrosteosis syndrome//homozygous dyschondrosteosis//lmd//langer mesomelic dwarfism//langer mesomelic dyspalsia//langer mesomelic dysplasia syndrome//langer mesomelic dysplasia; lmd//langer syndrome//langer type//langer type mesomelic dysplasia//langer type of mesomelic dwarfism//mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type//mesomelic dwarfism//mesomelic dwarfism langer type//mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type//mesomelic dwarfism, langer type//mesomelic dysplasia - langer type	SHOX	SHOX	https://raresource.nih.gov/literature/disease/0003553	0003553	249700	2632	C0432230	C537267		short stature homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Langer mesomelic dysplasia"	0	0	371
Syndactyly type 8	4-5 metacarpal fusion//fgf16 non-syndromic syndactyly//fusion of metacarpal 4 and 5//fusion of metacarpals 4 and 5//mf4//metacarpal 4 5 fusion//metacarpals 4 and 5 fusion//syndactyly of fingers type 8//metacarpal 4-5 fusion//metacarpal 4-5 fusion; mf4//non-syndromic syndactyly caused by mutation in fgf16//syndactyly type 8	FGF16	FGF16	https://raresource.nih.gov/literature/disease/0003559	0003559	309630	2498	C1839728			fibroblast growth factor 16	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly type 8"	0	0	17848
Metachondromatosis	metachondromatosis; metcds//metcds//metachondromatosis	PTPN11	PTPN11	https://raresource.nih.gov/literature/disease/0003560	0003560	156250	2499	C0410530			protein tyrosine phosphatase non-receptor type 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metachondromatosis"	0	0	3241
Metaphyseal anadysplasia	early-onset regressive form of metaphyseal dysplasia//mad//maroteaux verloes stanescu syndrome//maroteaux-verloes-stanescu syndrome//regressive metaphyseal dysplasia//metaphyseal anadysplasia	MMP13;MMP9	MMP13;MMP9	https://raresource.nih.gov/literature/disease/0003562	0003562	602111	1040	C0432226	C537351		matrix metallopeptidase 13;matrix metallopeptidase 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal anadysplasia"	0	0	340
Metaphyseal chondrodysplasia, Spahr type	mcds//mdst//metaphyseal chondrodysplasia, spahr type//metaphyseal chondrodysplasia spahr type//spahr type metaphyseal chondrodysplasia//metaphyseal dysplasia, spahr type//metaphyseal dysplasia, 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"	0	0	185
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	mdmhb//metaphyseal dysplasia maxillary hypoplasia brachydactyly//metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly//metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; mdmhb//metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	RUNX2	RUNX2	https://raresource.nih.gov/literature/disease/0003568	0003568	156510	2504				RUNX family transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	0	0	4
Metatropic dysplasia	metatropic dwarfism//mtd//metatropic dysplasia//metatropic dysplasia type 1//metatropic dwarf//metatropic dwarfism syndrome//metatropic dysplasia 1//metatropic dysplasia group//metatropic dysplasia, nonlethal dominant	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"	0	0	335
Methylcobalamin deficiency type cblG	functional methionine synthase deficiency type cblg	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"	0	0	None
Mevalonic aciduria	aciduria, mevalonic//complete mevalonate kinase deficiency//deficiency of mevalonate kinase//hids//hyper igd syndrome//hyper igd syndromes//hyper-igd syndrome//hyper-igd syndromes//hyperimmunoglobulinemia d//hyperimmunoglobulinemia d and periodic fever syndrome//kinase deficiencies, mevalonate//kinase deficiency, mevalonate//meva//mkd//mva//mevalonate kinase deficiencies//mevalonate kinase deficiency//mevalonic aciduria//mevalonicaciduria//mevalonicacidurias//periodic fever, dutch type//syndrome, hyper-igd//hyperimmunoglobulin d with periodic fever syndrome//mevalonic aciduria; meva	MVK	MVK	https://raresource.nih.gov/literature/disease/0003588	0003588	610377	29	C0342731	D054078		mevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mevalonic aciduria"	0	0	367
Multiple benign circumferential skin creases on limbs	(csc-kt)//ccsf//circumferential skin creases, kunze type//cscsc//cscsc1//circumferential skin creases//circumferential skin creases kunze type//congenital circumferential skin folds//kunze riehm syndrome//kunze type//kunze-riehm syndrome//lipomatous hypertrophy//michelin tire baby syndrome//mtbs//michelin-tire baby//skin creases, multiple benign ring-shaped, of limbs//multiple benign circumferential skin creases on limbs//skin creases, congenital symmetric circumferential, 1//skin creases, congenital symmetric circumferential, 1; cscsc1	MAPRE2;TUBB	MAPRE2;TUBB	https://raresource.nih.gov/literature/disease/0003589	0003589	156610	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[]=Multiple benign circumferential skin creases on limbs"	0	0	106
Autosomal dominant primary microcephaly	autosomal dominant microcephaly//microcephaly autosomal dominant//microcephaly with autosomal dominant inheritance//microcephaly, autosomal dominant//autosomal dominant primary microcephaly//microcephaly (disease), autosomal dominant	LMNB1;DPP6	LMNB1;DPP6	https://raresource.nih.gov/literature/disease/0003605	0003605	616311	2514	C0220693	C537323		lamin B1;dipeptidyl peptidase like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant primary microcephaly"	0	0	7
Microcephaly-lymphedema-chorioretinopathy syndrome	cdmmr syndrome//chorioretinal dysplasia-microcephaly-mental retardation syndrome//lymphedema and retinal folds with microcephaly and microphthalmos//lymphedema, microcephaly, chorioretinopathy syndrome//lymphedema, microcephaly and chorioretinopathy syndrome//lymphedema, microcephaly and chorioretinopathy syndrome//mclmr//microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant//microcephaly, lymphedema, chorioretinal dysplasia syndrome//mlcrd//mlcrd syndrome//microcephaly lymphedema chorioretinal dysplasia//microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability//chorioretinal dysplasia-microcephaly-intellectual disability syndrome//lymphedema and retinal folds with ficrocephaly and microphthalmos//microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant//microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability; mclmr//microcephaly with or without chorioretinopathy, lymphedema, or mental retardation//microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; mclmr//microcephaly-lymphedema-chorioretinopathy syndrome	KIF11	KIF11	https://raresource.nih.gov/literature/disease/0003622	0003622	152950	2526	C3501946	C537711		kinesin family member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephaly-lymphedema-chorioretinopathy syndrome"	0	0	17
Autosomal dominant omodysplasia	omod2//omodysplasia, autosomal dominant//omodysplasia 2//autosomal dominant omodysplasia//omodysplasia 2; omod2	FZD2	FZD2	https://raresource.nih.gov/literature/disease/0003643	0003643	164745	93328	C2750355			frizzled class receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant omodysplasia"	0	0	12437
Colobomatous microphthalmia	mac//mcopcb1//microphthalmia, colobomatous, isolated 1//microphthalmia - anophthalmia - coloboma//microphthalmia associated with colobomatous cyst//microphthalmia with colobomatous cyst//microphthalmia-anophthalmia-coloboma syndrome//microphthalmos bilateral, colobomatous orbital cyst//colobomatous microphthalmia//microphthalmia, isolated, with coloboma 1//microphthalmia, isolated, with coloboma 1; mcopcb1	SHH;SIX6;SOX2;GDF3;GDF6;RBP4;OTX2;ABCB6;RAX;VSX2;PORCN;ALDH1A3;TENM3;STRA6	SHH;SIX6;SOX2;GDF3;GDF6;RBP4;OTX2;ABCB6;RAX;VSX2;PORCN;ALDH1A3;TENM3;STRA6	https://raresource.nih.gov/literature/disease/0003644	0003644	605738	98938	C2931501			sonic hedgehog signaling molecule;SIX homeobox 6;SRY-box transcription factor 2;growth differentiation factor 3;growth differentiation factor 6;retinol binding protein 4;orthodenticle homeobox 2;ATP binding cassette subfamily B member 6 (Langereis blood group);retina and anterior neural fold homeobox;visual system homeobox 2;porcupine O-acyltransferase;aldehyde dehydrogenase 1 family member A3;teneurin transmembrane protein 3;signaling receptor and transporter of retinol STRA6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Colobomatous microphthalmia"	0	0	1787
Microphthalmia with brain and digit anomalies	anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia//anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia//bakrania ragge syndrome//bakrania-ragge syndrome//mcops6//microphthalmia and pituitary anomalies//microphthalmia with brain and digit developmental anomalies//microphthalmia syndromic 6//orofacial cleft 11//syndromic microphthalmia type 6//microphthalmia with brain and digit anomalies//microphthalmia, syndromic 6//microphthalmia, syndromic 6; mcops6//microphthalmia, syndromic type 6	BMP4	BMP4	https://raresource.nih.gov/literature/disease/0003645	0003645	607932	139471	C1864689			bone morphogenetic protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia with brain and digit anomalies"	0	0	2
Microphthalmia with linear skin defects syndrome	hccs microphthalmia with linear skin defects syndrome//lsdmca1//linear skin defects with multiple congenital anomalies 1//mcops7//microphthalmia with linear skin defects//microphthalmia, dermal aplasia, and sclerocornea//microphthalmia, syndromic 7//midas syndrome//midas syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome//mls//mls syndrome//microphthalmia - dermal aplasia - sclerocornea//microphthalmia dermal aplasia and sclerocornea syndrome//microphthalmia with linear skin defects syndrome//microphthalmia with linear skin lesions syndrome//microphthalmia with linear skin defect syndrome//microphthalmia-dermal aplasia-sclerocornea syndrome//micropthalmia syndromic 7//syndromic microphthalmia-7//syndromic microphthalmia type 7//linear skin defects with multiple congenital anomalies//linear skin defects with multiple congenital anomalies 1; lsdmca1//linear skin defects with multiple congenital anomalies type 1//microphthalmia with linear skin defects syndrome caused by mutation in hccs	COX7B;HCCS;NDUFB11	COX7B;HCCS;NDUFB11	https://raresource.nih.gov/literature/disease/0003659	0003659	300952	2556	C0796070			cytochrome c oxidase subunit 7B;holocytochrome c synthase;NADH:ubiquinone oxidoreductase subunit B11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia with linear skin defects syndrome"	0	0	406
Miller-Dieker syndrome	1, lissencephaly//1, lissencephaly type//1s, lissencephaly//1s, lissencephaly type//agyria pachygyria band spectrum//agyria-pachygyria-band spectrum//band heterotopia, lissencephaly-subcortical//chromosome 17p13.3 deletion syndrome//classic lissencephalies//classic lissencephaly//classical lissencephalies//classical lissencephaly//classical lissencephaly syndrome//classical lissencephaly syndromes//double cortex syndrome//heterotopia, lissencephaly-subcortical band//heterotopia, subcortical band//heterotopia, subcortical laminar//heterotopias, lissencephaly-subcortical band//heterotopias, subcortical band//heterotopias, subcortical laminar//isolated lissencephaly sequence//lissencephalies, classic//lissencephalies, classical//lissencephalies, type 1//lissencephalies, x-linked//lissencephaly 1s//lissencephaly sequence, isolated//lissencephaly subcortical band heterotopia//lissencephaly syndrome, classical//lissencephaly syndrome, miller dieker//lissencephaly syndrome, miller-dieker//lissencephaly syndromes, classical//lissencephaly type 1//lissencephaly type 1s//lissencephaly due to 17p13.3 deletion//lissencephaly syndrome//lissencephaly, classic//lissencephaly, classical//lissencephaly, miller dieker//lissencephaly, miller-dieker//lissencephaly, type 1//lissencephaly, x linked//lissencephaly, x-linked//lissencephaly, x-linked, 1//lissencephaly-subcortical band heterotopia//lissencephaly-subcortical band heterotopias//mdcr//mdls//mds//miller-dieker syndrome chromosome region//miller dieker lissencephaly syndrome//miller dieker syndrome//miller-dieker lissencephaly//miller-dieker lissencephaly syndrome//miller-dieker syndrome//miller-dieker lissencephaly syndrome; mdls//monosomy 17p13.3//subcortical band heterotopia//subcortical band heterotopias//subcortical laminar heterotopia//syndrome, classical lissencephaly//syndrome, double cortex//syndrome, miller-dieker//syndrome, miller-dieker lissencephaly//syndromes, classical lissencephaly//telomeric deletion 17p//type 1 lissencephalies//type 1 lissencephaly//type 1, lissencephaly//type 1s, lissencephaly//x linked lissencephaly//x-linked lissencephalies//x-linked lissencephaly	HIC1;YWHAE;PAFAH1B1	HIC1;YWHAE;PAFAH1B1	https://raresource.nih.gov/literature/disease/0003669	0003669	247200	531	C0265219	D054221		HIC ZBTB transcriptional repressor 1;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon;platelet activating factor acetylhydrolase 1b regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Miller-Dieker syndrome"	0	0	14144
Non-spherocytic hemolytic anemia due to hexokinase deficiency	hexokinase deficiency hemolytic anemia//nonspherocytic hemolytic anemia due to hexokinase deficiency//hemolytic anemia, nonspherocytic, due to hexokinase deficiency//non-spherocytic hemolytic anemia due to hexokinase deficiency	HK1	HK1	https://raresource.nih.gov/literature/disease/0003672	0003672	235700	90031				hexokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-spherocytic hemolytic anemia due to hexokinase deficiency"	0	0	None
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	booth-haworth-dilling syndrome//mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related//mtdps5//mitochondrial dna depletion syndrome-5//mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive//mitochondrial encephalomyopathy - aminoacidopathy//mitochondrial encephalomyopathy aminoacidopathy//mitochondrial encephalomyopathy-aminoacidopathy syndrome//sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria//encephalomyopathic form with methylmalonic aciduria//encephalomyopathy//mitochondrial dna depletion syndrome 5//mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)//mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); mtdps5//mitochondrial dna depletion syndrome type 5//mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria//mtdna depletion syndrome//mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria//succinate-coa ligase deficiency	SUCLA2	SUCLA2	https://raresource.nih.gov/literature/disease/0003681	0003681	612073	1933				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"	0	0	256
Mitochondrial trifunctional protein deficiency	3-hydroxyacyl-coa dehydrogenase, long chain, deficiency//asymmetric septal hypertrophy, familial//cmh//cardiomyopathies, familial hypertrophic//cardiomyopathy familial hypertrophic//cardiomyopathy, familial hypertrophic//cardiomyopathy, hypertrophic, familial//familial hcm//familial hypertrophic cardiomyopathies//familial hypertrophic cardiomyopathy//familial ventricular hypertrophies//familial ventricular hypertrophy//hcm//hereditary ventricular hypertrophies//hereditary ventricular hypertrophy//heritable hypertrophic cardiomyopathy//hypertrophic cardiomyopathies, familial//hypertrophic cardiomyopathy, familial//hypertrophic subaortic stenosis, idiopathic//hypertrophies, hereditary ventricular//hypertrophy, familial ventricular//hypertrophy, hereditary ventricular//idiopathic hypertrophic subaortic stenosis//lchad deficiency//long-chain 3-hydroxy acyl coa dehydrogenase deficiency//long-chain 3-hydroxyacyl-coa dehydrogenase deficiency//long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//long-chain 3-oh acyl-coa dehydrogenase deficiency//mtpd//mitochondrial trifunctional protein deficiency//obstructive asymmetric septal hypertrophy//primary familial hypertrophic cardiomyopathy//rare familial disorder with hypertrophic obstructive cardiomyopathy//rare familial disorder with hypertrophic subaortic stenosis//tfp deficiency//tfpd//trifunctional protein deficiency//trifunctional protein deficiency with myopathy and neuropathy//trifunctional protein deficiency, type 1//trifunctional protein deficiency, type 2//ventricular hypertrophies, familial//ventricular hypertrophies, hereditary//ventricular hypertrophy, familial//ventricular hypertrophy, hereditary//hereditary hypertrophic cardiomyopathy//hypertrophic familial cardiomyopathy//mitochondrial trifunctional protein deficiency; mtpd	HADHA;HADHB	HADHA;HADHB	https://raresource.nih.gov/literature/disease/0003684	0003684	609015	746	C1969443	D024741		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"	0	0	15673
Familial mitral valve prolapse	barlow syndrome//click-murmur syndrome//floppy mitral valve//mitral regurgitation, familial//mitral valve prolapse, familial//mitral valve prolapse, myxomatous 1//mmvp1//mvp//mvp prolapsed mitral valve//mvp1//myxomatous mitral valve prolapse 1//myxomatous valvular disease, familial//mitral valve prolapse, familial, x-linked//mitral valve prolapse, familial, autosomal dominant//pmv//prolapsed mitral valve//familial mitral valve prolapse//hereditary mitral valve prolapse (disease)//mitral valve prolapse 1; mvp1	DCHS1	DCHS1	https://raresource.nih.gov/literature/disease/0003687	0003687	607829	741	C0340364			dachsous cadherin-related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial mitral valve prolapse"	0	0	1361
Mitral valve prolapse 1		MMVP1	MMVP1	https://raresource.nih.gov/literature/disease/0003688	0003688			C1834819			Mitral valve prolapse, myxomatous 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitral valve prolapse 1"	0	0	None
Melorheostosis with osteopoikilosis	dystrophy osseous sclerosing mixed//msbd syndrome//mixed sclerosing bone dystrophy//melorheostosis with osteopoikilosis	LEMD3	LEMD3	https://raresource.nih.gov/literature/disease/0003690	0003690		1879	C2931505			LEM domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melorheostosis with osteopoikilosis"	0	0	4051
Syndromic microphthalmia type 5	mcops5//microphthalmia syndromic 5//otx2 syndromic microphthalmia//otx2-related eye disorders//retinal dystrophy, early-onset, with or without pituitary dysfunction//retinal dystrophy, early-onset, with pituitary dysfunction//retinal dystrophy, early-onset, without pituitary dysfunction//syndromic microphthalmia/anophthalmia due to otx2 mutation//microphthalmia, syndromic 5//microphthalmia, syndromic 5; mcops5//microphthalmia, syndromic type 5//syndromic microphthalmia caused by mutation in otx2//syndromic microphthalmia type 5	OTX2	OTX2	https://raresource.nih.gov/literature/disease/0003692	0003692	610125	178364	C1864690			orthodenticle homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic microphthalmia type 5"	0	0	1
MODY	diabetes, maturity-onset, of the young (mody)//mason-type diabetes//mody - maturity onset diabetes of young//mason type diabetes//maturity onset diabetes of the young//maturity-onset diabetes of the young//maturity-onset diabetes of the young (mody)//maturity-onset diabetes of the young (disease)//maturity-onset diabetes of the young; mody	KLF11;CEL;HNF1A;BLK;APPL1;NEUROD1;PAX4;KCNJ11;GCK;INS;PDX1;ABCC8;HNF4A	KLF11;CEL;HNF1A;BLK;APPL1;NEUROD1;PAX4;KCNJ11;GCK;INS;PDX1;ABCC8;HNF4A	https://raresource.nih.gov/literature/disease/0003697	0003697	616511	552	C0342276			Kruppel like factor 11;carboxyl ester lipase;HNF1 homeobox A;BLK proto-oncogene, Src family tyrosine kinase;adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1;neuronal differentiation 1;paired box 4;potassium inwardly rectifying channel subfamily J member 11;glucokinase;insulin;pancreatic and duodenal homeobox 1;ATP binding cassette subfamily C member 8;hepatocyte nuclear factor 4 alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MODY"	0	0	1341
Fryns syndrome	diaphragmatic hernia, abnormal face, and distal limb anomalies//diaphragmatic hernia - abnormal face - distal limb anomalies//diaphragmatic hernia, abnormal face and distal limb anomalies//diaphragmatic hernia-abnormal face-distal limb anomalies syndrome//frns//fryns syndrome; frns//moerman van den berghe fryns syndrome	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"	0	0	232
Orofaciodigital syndrome type 2	mohr syndrome//ofd ii - orofacial-digital syndrome ii//ofd syndrome 2//ofd syndrome type ii//ofd2//ofds 2//ofds ii//oral-facial-digital syndrome, type ii//orofaciodigital syndrome ii//oral facial digital syndrome, type ii//oral facial digital syndrome 2//oral facial digital syndrome type 2//oral-facial-digital syndrome type 2//orofacial-digital syndrome ii//orofaciodigital syndrome iis//orofaciodigital syndrome 2//syndrome, mohr//oral-facial-digital syndrome, type 2//orofaciodigital syndrome type 2//orofaciodigital syndrome type ii	NEK1	NEK1	https://raresource.nih.gov/literature/disease/0003701	0003701	252100	2751	C2931889	C538585		NIMA related kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 2"	0	0	48
2q24 microdeletion syndrome	2q24 deletion//chromosome 2q24 microdeletion syndrome//del(2)(q24)//deletion 2q24//monosomy 2q24	TBR1	TBR1	https://raresource.nih.gov/literature/disease/0003746	0003746		1617	C2931816	C538316		T-box brain transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=2q24 microdeletion syndrome"	0	0	425
6q25 microdeletion syndrome	chromosome 6q25 microdeletion syndrome//del(6)(q25)//deletion 6q25//monosomy 6q25//chromosome 6q24-q25 deletion syndrome//del(6q25)	ARID1B	ARID1B	https://raresource.nih.gov/literature/disease/0003764	0003764	612863	251056				AT-rich interaction domain 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=6q25 microdeletion syndrome"	0	0	535
8p23.1 microdeletion syndrome	8p23.1 deletion//chromosome 8p23.1 deletion//del(8)(p23.1)//deletion 8p23 1//deletion 8p23.1//monosomy 8p23 1//monosomy 8p23.1	GATA4	GATA4	https://raresource.nih.gov/literature/disease/0003769	0003769		251071				GATA binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=8p23.1 microdeletion syndrome"	0	0	127
Mucopolysaccharidosis type 4A	galactosamine-6-sulfatase deficiency//galns deficiency//morquio a disease//morquio syndrome a//mps 4a//mps iv a//mps iva//mps4a//mpsiva//morquio disease type a//mucopolysaccharidosis type iva//n-acetylgalactosamine-6-sulfate sulfatase deficiency//mucopolysaccharidosis type 4a//mucopolysaccharidosis, type 4a//mucopolysaccharidosis, type iva//mucopolysaccharidosis, type iva; mps4a	GALNS	GALNS	https://raresource.nih.gov/literature/disease/0003785	0003785	253000	309297	C3179194			galactosamine (N-acetyl)-6-sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucopolysaccharidosis type 4A"	0	0	949
Mucopolysaccharidosis type 4B	beta-d-galactosidase deficiency//disease, morquio-b//morquio syndrome b//mps 4b//mps iv b//mps iv-b - mucopolysaccharidosis iv-b//mps ivb//mps4b//mpsivb//morquio b disease//morquio b syndrome//morquio syndrome, type b//morquio disease type b//morquio's disease type b//morquio-b disease//morquio-like syndrome//mucopolysaccharidosis 4b//mucopolysaccharidosis 4bs//mucopolysaccharidosis iv-b//mucopolysaccharidosis type ivb//mucopolysaccharidosis type ivbs//mucopolysaccharidosis type iv b//mucopolysaccharidosis, mps-iv-b//syndrome, morquio b//mucopolysaccharidosis type 4b//mucopolysaccharidosis type ivb (morquio)//mucopolysaccharidosis, type 4b//mucopolysaccharidosis, type ivb//mucopolysaccharidosis, type ivb; mps4b	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 type 4B"	0	0	444
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	holoprosencephaly with fetal akinesia/hypokinesia sequence//morse-rawnsley-sargent syndrome//holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome	GPKOW	GPKOW	https://raresource.nih.gov/literature/disease/0003788	0003788	306990	2570	C1844016			G-patch domain and KOW motifs	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"	0	0	None
Multiple endocrine neoplasia type 1	endocrine adenomatosis, multiple//endocrine adenomatosis multiple//mea 1//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 i//men, type 1//men1//men1 somatic mutations//men1 multiple endocrine neoplasia//men1 syndrome//multiple endocrine neoplasia type i//multiple endocrine neoplasms type 1//multiple endocrine adenomatosis, type 1//multiple endocrine neoplasia syndrome type 1//neoplasia, multiple endocrine type 1//neoplasms, multiple endocrine type 1//neoplasms, multiple endocrine type i//wermer syndrome//wermer's syndrome//men type 1//multiple endocrine adenomatosis//multiple endocrine adenomatosis type 1//multiple endocrine adenomatosis type i//multiple endocrine adenomatosis, type i//multiple endocrine neoplasia caused by mutation in men1//multiple endocrine neoplasia type 1//multiple endocrine neoplasia type 1 syndrome//multiple endocrine neoplasia, type 1//multiple endocrine neoplasia, type i//multiple endocrine neoplasia, type i; men1	MEN1;CDKN1A;CDKN2C;CDKN2B;CDKN1B	MEN1;CDKN1A;CDKN2C;CDKN2B;CDKN1B	https://raresource.nih.gov/literature/disease/0003829	0003829	131100	652	C0025267	D018761		menin 1;cyclin dependent kinase inhibitor 1A;cyclin dependent kinase inhibitor 2C;cyclin dependent kinase inhibitor 2B;cyclin dependent kinase inhibitor 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple endocrine neoplasia type 1"	0	0	2857
Lethal multiple pterygium syndrome	autosomal recessive lethal multiple pterygium syndrome//chrna1-related multiple pterygium syndrome, lethal type//chrnd-related multiple pterygium syndrome, lethal type//lmps//multiple pterygium syndrome lethal type//pterygium syndrome, multiple, lethal type//pterygium multiple syndrome, lethal type//pterygium syndrome multiple lethal type//lethal multiple pterygium syndrome//multiple pterygium syndrome, lethal type//multiple pterygium syndrome, lethal type; lmps	CHRNG;CHRNA1;NEB;RAPSN;CHRND;RYR1	CHRNG;CHRNA1;NEB;RAPSN;CHRND;RYR1	https://raresource.nih.gov/literature/disease/0003834	0003834	253290	33108	C1854678	C537378		cholinergic receptor nicotinic gamma subunit;cholinergic receptor nicotinic alpha 1 subunit;nebulin;receptor associated protein of the synapse;cholinergic receptor nicotinic delta subunit;ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal multiple pterygium syndrome"	0	0	38
Multiple synostoses syndrome	deafness-symphalangism syndrome of herrmann//deafness-hermann type symphalangism syndrome//facioaudiosymphalangism syndrome//facio-audio-symphalangism//hearing loss-hermann type symphalangism syndrome//multiple synostoses syndrome//multiple synostoses syndrome 1//nog multiple synostoses syndrome//symphalangism-brachydactyly syndrome//synostoses, multiple, with brachydactyly//syns1//symphalangism brachydactyly syndrome//synostoses multiple with brachydactyly//wl syndrome//multiple synostoses syndrome 1; syns1//multiple synostoses syndrome caused by mutation in nog//multiple synostoses syndrome type 1	NOG;GDF5;FGF9	NOG;GDF5;FGF9	https://raresource.nih.gov/literature/disease/0003836	0003836	610017	3237	C0342282			noggin;growth differentiation factor 5;fibroblast growth factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple synostoses syndrome"	0	0	40
Laminin subunit alpha 2-related congenital muscular dystrophy	atrophie blanche//cmd1a//cmd1a - congenital muscular dystrophy type 1a//congenital muscular dystrophy due to laminin alpha2 deficiency//congenital muscular dystrophy type 1a//lama2 congenital muscular dystrophy//lama2-related muscular dystrophy//laminin alpha-2 deficiency//mcd1a - muscular congenital dystrophy type 1a//mdc1a//muscular dystrophy, congenital merosin-deficient//muscular dystrophy, congenital, due to partial lama2 deficiency//merosin deficient congenital muscular dystrophy//merosin-deficient congenital muscular dystrophy type 1a//merosin-deficient congenital muscular dystrophy//merosin-negative congenital muscular dystrophy//muscular dystrophy, congenital merosin-deficient, 1a//muscular dystrophy congenital, merosin negative//muscular dystrophy white matter spongiosis//muscular dystrophy, congenital, merosin-deficient//muscular dystrophy, congenital, merosin-deficient 1a//congenital merosin-deficient muscular dystrophy 1a//congenital merosin-deficient muscular dystrophy type 1a//congenital muscular dystrophy caused by mutation in lama2//muscular dystrophy, congenital merosin-deficient, 1a; mdc1a//muscular dystrophy, congenital merosin-deficient, type 1a//muscular dystrophy-white matter spongiosis syndrome	LAMA2	LAMA2	https://raresource.nih.gov/literature/disease/0003843	0003843	618138	258	C1263858			laminin subunit alpha 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laminin subunit alpha 2-related congenital muscular dystrophy"	0	0	337
TRIM32-related limb-girdle muscular dystrophy R8	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 type 2h//limb-girdle muscular dystrophy due to trim32 deficiency//muscular dystrophy, hutterite type//muscular dystrophy, limb-girdle, autosomal recessive 8//muscular dystrophy, limb-girdle, type 2h//muscular dystrophy hutterite type//muscular dystrophy limb-girdle type 2h//muscular dystrophy, limb-girdle type 2h//sarcotubular myopathy//trim32 autosomal recessive limb-girdle muscular dystrophy//trim32-related limb-girdle muscular dystrophy r8//trim32-related lgmd r8//autosomal recessive limb-girdle muscular dystrophy caused by mutation in trim32//muscular dystrophy, limb-girdle, type 2h; lgmd2h	TRIM32	TRIM32	https://raresource.nih.gov/literature/disease/0003844	0003844	254110	1878	C0270968			tripartite motif containing 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TRIM32-related limb-girdle muscular dystrophy R8"	0	0	33
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	autosomal recessive limb-girdle muscular dystrophy type 2e//beta-sarcoglycan limb-girdle muscular dystrophy//beta-sarcoglycan-related lgmd r4//beta-sarcoglycanopathy//lgmd due to beta-sarcoglycan deficiency//lgmd type 2e//lgmd2e//lgmdr4//limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2e//muscular dystrophy, limb-girdle, type 2e//muscular dystrophy limb-girdle with beta-sarcoglycan deficiency//sgcb autosomal recessive limb-girdle muscular dystrophy//autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb//muscular dystrophy, limb-girdle, type 2e; lgmd2e	SGCB	SGCB	https://raresource.nih.gov/literature/disease/0003851	0003851	604286	119	C2930900			sarcoglycan beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"	0	0	30
Becker nevus syndrome	hairy epidermal nevus syndrome//pigmentary hairy epidermal nevus//unilateral hypoplasia of breast musculoskeletal defects	ACTB	ACTB	https://raresource.nih.gov/literature/disease/0003856	0003856	604919	64755	C0263579			actin beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Becker nevus syndrome"	0	0	25
Glycogen storage disease due to muscle phosphorylase kinase deficiency	gsd ixd//gsd vb//gsd due to muscle phosphorylase kinase deficiency//gsd type 9d//gsd type 9e//gsd type ixd//gsd type ixe//gsd9d//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//muscle glycogenosis, x-linked//muscle phosphorylase kinase deficiency//muscular phosphorylase kinase deficiency//phka1 glycogen storage disease//phka1-related glycogen storage disease type ix//x-linked muscke glycogenosis//glycogen storage disease caused by mutation in phka1//glycogen storage disease due to muscle phosphorylase kinase deficiency//glycogen storage disease, type ixd//glycogen storage disease, type ixd; gsd9d	PHKA1;PHKG1	PHKA1;PHKG1	https://raresource.nih.gov/literature/disease/0003858	0003858	300559	715	C1845151			phosphorylase kinase regulatory subunit alpha 1;phosphorylase kinase catalytic subunit gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle phosphorylase kinase deficiency"	0	0	1472
Classic mycosis fungoides	alibert-bazin syndrome//alibert-bazin type//ctcl/ mycosis fungoides//granuloma fungoides//mf//mf - mycosis fungoides//mycosis fungoides//mycosis fungoides (clinical)//mycosis fungoides, alibert-bazin type//classic mycosis fungoides//cutaneous t-cell lymphoma/mycosis fungoides//mycosis fungoides (morphologic abnormality)//mycosis fungoides nos (morphologic abnormality)//mycosis fungoides lymphoma//mycosis fungoides of unspecified site//mycosis fungoides, unspecified site, extranodal and solid organ sites	CTLA4;TNFRSF1B;CD28	CTLA4;TNFRSF1B;CD28	https://raresource.nih.gov/literature/disease/0003863	0003863	254400	2584				cytotoxic T-lymphocyte associated protein 4;TNF receptor superfamily member 1B;CD28 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic mycosis fungoides"	0	0	8522
Ataxia-pancytopenia syndrome	atxpc//ataxia pancytopenia syndrome//ataxia-pancytopenia syndrome//myelocerebellar disorder//ataxia-pancytopenia syndrome; atxpc	SAMD9L	SAMD9L	https://raresource.nih.gov/literature/disease/0003865	0003865	159550	2585	C1327919			sterile alpha motif domain containing 9 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-pancytopenia syndrome"	0	0	19
Myeloperoxidase deficiency	mpo - myeloperoxidase deficiency//mpo deficiency//mpod//myeloperoxidase deficiency syndrome//myeloperoxidase deficiency//myeloperoxidase deficiency; mpod	MPO	MPO	https://raresource.nih.gov/literature/disease/0003868	0003868	254600	2587	C0398595			myeloperoxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myeloperoxidase deficiency"	0	0	1423
Progressive myoclonic epilepsy type 6	epm6//gosr2 progressive myoclonic epilepsy//gosr2-related progressive myoclonus ataxia//north sea progressive myoclonus epilepsy//pme type 6//progressive myoclonus epilepsy type 6//epilepsy, progressive myoclonic, 6//epilepsy, progressive myoclonic, 6; epm6//epilepsy, progressive myoclonic, type 6//progressive myoclonic epilepsy caused by mutation in gosr2//progressive myoclonic epilepsy type 6	GOSR2	GOSR2	https://raresource.nih.gov/literature/disease/0003872	0003872	614018	280620				golgi SNAP receptor complex member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 6"	0	0	4210
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//jankovic-rivera syndrome//myoclonus, hereditary, with progressive distal muscular atrophy//myoclonus hereditary progressive distal muscular atrophy//sma-pme//smapme//spinal muscular atrophy with progressive myoclonic epilepsy//spinal muscular atrophy with progressive myoclonic epilepsy; smapme//spinal muscular atrophy-progressive myoclonic epilepsy syndrome	ASAH1	ASAH1	https://raresource.nih.gov/literature/disease/0003875	0003875	159950	2590	C1834569			N-acylsphingosine amidohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	0	0	24
Progressive myoclonic epilepsy type 1	baltic myoclonic epilepsy//baltic myoclonic epilepsies//baltic myoclonus//baltic myoclonus epilepsies//baltic myoclonus epilepsy//disease, unverricht//disease, unverricht-lundborg//diseases, unverricht//diseases, unverricht-lundborg//epilepsy, progressive myoclonic, 1//epilepsy, progressive myoclonic, 1a//epm1//epm1a//epilepsies, baltic myoclonic//epilepsies, baltic myoclonus//epilepsy, baltic myoclonic//epilepsy, baltic myoclonus//epilepsy, mediterranean myoclonic//epilepsy, progressive myoclonic 1//epilepsy, progressive myoclonic 1a//epilepsy, progressive myoclonic type 1//epilepsy, progressive myoclonus 1//lundborg unverricht syndrome//lundborg-unverricht syndrome//mediterranean myoclonic epilepsy//myoclonic epilepsies, baltic//myoclonic epilepsy of unverricht and lundborg//myoclonic epilepsy, baltic//myoclonic epilepsy, mediterranean//myoclonus epilepsies, baltic//myoclonus epilepsy, baltic//myoclonus progressive epilepsy of unverricht and lundborg//myoclonus, baltic//pme//pme type 1//progressive myoclonic epilepsy//progressive myoclonus epilepsy 1//progressive myoclonus epilepsybaltic myoclonic epilepsy//progressive myoclonus epilepsy baltic myoclonic epilepsy//progressive myoclonus epilepsy type 1//syndrome, lundborg-unverricht//syndrome, unverricht-lundborg//uld//unverricht - lundborg disease//unverricht disease//unverricht diseases//unverricht lundborg disease//unverricht lundborg syndrome//unverricht's disease//unverricht-lundborg disease//unverricht-lundborg diseases//unverricht-lundborg syndrome//progressive myoclonic epilepsy type 1	PRICKLE1;CSTB;SCARB2	PRICKLE1;CSTB;SCARB2	https://raresource.nih.gov/literature/disease/0003876	0003876	310370	308	C0751785	D020194		prickle planar cell polarity protein 1;cystatin B;scavenger receptor class B member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive myoclonic epilepsy type 1"	0	0	754
Tubular aggregate myopathy	aggregate myopathies, tubular//aggregate myopathy, tubular//myopathy, tubular aggregate//myopathies, tubular aggregate//myopathy with tubular aggregates//stim1 tubular aggregate myopathy//tam//tam1//tubular aggregate myopathy//tubular aggregate myopathies//myopathy, tubular aggregate, 1//myopathy, tubular aggregate, 1; tam1//myopathy, tubular aggregate, type 1//tubular aggregate myopathy caused by mutation in stim1	ORAI1;CASQ1;STIM1	ORAI1;CASQ1;STIM1	https://raresource.nih.gov/literature/disease/0003884	0003884	160565	2593	C0410207			ORAI calcium release-activated calcium modulator 1;calsequestrin 1;stromal interaction molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tubular aggregate myopathy"	0	0	247
Mitochondrial myopathy and sideroblastic anemia	mitochondrial myopathy and sideroblastic anemia//mlasa//mlasa1//msa//mitochondrial myopathy with sideroblastic anemia syndrome//myopathy//myopathy with lactic acidosis and sideroblastic anemia//myopathy, lactic acidosis and sideroblastic anemia//pus1 myopathy, lactic acidosis, and sideroblastic anemia//sideroblastic anemia and mitochondrial myopathy//lactic acidosis and sideroblastic anemia//myopathy, lactic acidosis, and siderblastic anemia//myopathy, lactic acidosis, and sideroblastic anemia//myopathy, lactic acidosis, and sideroblastic anemia 1; mlasa1//myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in pus1	PUS1;YARS2	PUS1;YARS2	https://raresource.nih.gov/literature/disease/0003885	0003885	500011	2598	C1838103	C536101		pseudouridine synthase 1;tyrosyl-tRNA synthetase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial myopathy and sideroblastic anemia"	0	0	12248
Carey-Fineman-Ziter syndrome	cfz syndrome//cfzs//carey fineman ziter syndrome//carey-fineman-ziter syndrome//carey-fineman-ziter syndrome//carey-fineman-ziter syndrome; cfzs//congenital nonprogressive myopathy with moebius and robin sequence//congenital nonprogressive myopathy with moebius and robin sequences//myopathy, congenital nonprogressive, with moebius sequence and robin sequence//moebius sequence, robin complex, and hypotonia//myopathy - moebius - robin syndrome//myopathy, congenital nonprogressive with moebius and robin sequences//myopathy-moebius-robin syndrome	MYMK	MYMK	https://raresource.nih.gov/literature/disease/0003889	0003889	254940	1358	C1850746			myomaker, myoblast fusion factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carey-Fineman-Ziter syndrome"	0	0	64
X-linked myopathy with excessive autophagy	autophagic vacuolar myopathy//meax//myopathy, autophagic vacuolar, infantile-onset//myopathy, x-linked, with excessive autophagy//vacuolar myopathy//xmea//myopathy, x-linked, with excessive autophagy; meax	VMA21	VMA21	https://raresource.nih.gov/literature/disease/0003892	0003892	310440	25980	C2931230			vacuolar ATPase assembly factor VMA21	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked myopathy with excessive autophagy"	0	0	220
Alpha-N-acetylgalactosaminidase deficiency type 3	naga deficiency type 3//schindler disease type 3	NAGA	NAGA	https://raresource.nih.gov/literature/disease/0003903	0003903	609241	79281	C1836545			alpha-N-acetylgalactosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-N-acetylgalactosaminidase deficiency type 3"	0	0	None
Nijmegen breakage syndrome	at v1//at-v1//at-v2//ataxia-telangiectasia variant v1//ataxia-telangiectasia variant v2//ataxia telangiectasia variant 1//ataxia telangiectasia variant v1//ataxia-telangiectasia variant 1//ataxia-telangiectasia variant 1s//ataxia-telangiectasia variant v1s//ataxia-telangiectasia, variant 1//bbs//berlin breakage syndrome//breakage syndrome, berlin//breakage syndrome, nijmegen//immunodeficiency, microcephaly, and chromosomal instability//immunodeficiency - microcephaly - chromosomal instability//immunodeficiency, microcephaly with normal intelligence//immunodeficiency-microcephaly-chromosomal instability syndrome//microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies//microcephaly - immunodeficiency - lymphoreticuloma//microcephaly immunodeficiency lymphoreticuloma//microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies//microcephaly, normal intelligence and immunodeficiency//microcephaly-immunodeficiency-lymphoid malignancy syndrome//nbs//nbs - nijmegen breakage syndrome//nonsyndromal microcephaly, autosomal recessive, with normal intelligence//nijmegen breakage syndrome; nbs//nonsyndromal microcephaly autosomal recessive with normal intelligence//seemanova syndrome ii//seemanova syndrome 2//seemanova syndrome//seemanova syndrome type 2//syndrome, berlin breakage//syndrome, nijmegen breakage//variant 1s, ataxia-telangiectasia//variant v1, ataxia-telangiectasia//variant v1s, ataxia-telangiectasia//ataxia-telangiectasia variant//microcephaly-immunodeficiency-lymphoreticuloma syndrome//variant 1	NBN	NBN	https://raresource.nih.gov/literature/disease/0003904	0003904	251260	647	C0398791	C531759		nibrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nijmegen breakage syndrome"	0	0	1686
Isolated complex I deficiency	complex 1 mitochondrial respiratory chain deficiency//fatal infantile hypertrophic cardiomyopathy due to nadh-coenzyme q reductase deficiency//isolated nadh-coq reductase deficiency//isolated nadh-coenzyme q reductase deficiency//isolated nadh-ubiquinone reductase deficiency//isolated mitochondrial respiratory chain complex i deficiency//mc1dn1//mitochondrial complex i deficiency//mitochondrial complex i deficiency, nuclear type 1//mitochondrial nadh dehydrogenase component of complex i, deficiency of//mitochondrial respiratory chain complex i deficiency//mitochondrial respiratory chain complex i deficiency (mitochondrial genes)//nadh coenzyme q reductase deficiency//nadh-coenzyme q reductase deficiency//nadh:q(1) oxidoreductase deficiency//fatal infantile hcm due to mitochondrial complex i deficiency//fatal infantile hypertrophic cardiomyopathy due to nadh-coq reductase deficiency//fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency//isolated complex i deficiency//mitochondrial complex 1 deficiency	NDUFAF8;NDUFV2;NDUFA1;NDUFA6;NDUFB10;NDUFS1;NDUFS2;NDUFS3;NDUFS4;NDUFS6;NDUFS7;NDUFS8;NDUFV1;NDUFAF5;TIMMDC1;NDUFAF1;NUBPL;NDUFA11;NDUFB11;NDUFAF4;FOXRED1;NDUFAF2;NDUFAF3;TMEM126B;NDUFB3;NDUFB9	NDUFAF8;NDUFV2;NDUFA1;NDUFA6;NDUFB10;NDUFS1;NDUFS2;NDUFS3;NDUFS4;NDUFS6;NDUFS7;NDUFS8;NDUFV1;NDUFAF5;TIMMDC1;NDUFAF1;NUBPL;NDUFA11;NDUFB11;NDUFAF4;FOXRED1;NDUFAF2;NDUFAF3;TMEM126B;NDUFB3;NDUFB9	https://raresource.nih.gov/literature/disease/0003908	0003908	619170	2609	C2936907			NADH:ubiquinone oxidoreductase complex assembly factor 8;NADH:ubiquinone oxidoreductase core subunit V2;NADH:ubiquinone oxidoreductase subunit A1;NADH:ubiquinone oxidoreductase subunit A6;NADH:ubiquinone oxidoreductase subunit B10;NADH:ubiquinone oxidoreductase core subunit S1;NADH:ubiquinone oxidoreductase core subunit S2;NADH:ubiquinone oxidoreductase core subunit S3;NADH:ubiquinone oxidoreductase subunit S4;NADH:ubiquinone oxidoreductase subunit S6;NADH:ubiquinone oxidoreductase core subunit S7;NADH:ubiquinone oxidoreductase core subunit S8;NADH:ubiquinone oxidoreductase core subunit V1;NADH:ubiquinone oxidoreductase complex assembly factor 5;translocase of inner mitochondrial membrane domain containing 1;NADH:ubiquinone oxidoreductase complex assembly factor 1;NUBP iron-sulfur cluster assembly factor, mitochondrial;NADH:ubiquinone oxidoreductase subunit A11;NADH:ubiquinone oxidoreductase subunit B11;NADH:ubiquinone oxidoreductase complex assembly factor 4;FAD dependent oxidoreductase domain containing 1;NADH:ubiquinone oxidoreductase complex assembly factor 2;NADH:ubiquinone oxidoreductase complex assembly factor 3;transmembrane protein 126B;NADH:ubiquinone oxidoreductase subunit B3;NADH:ubiquinone oxidoreductase subunit B9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated complex I deficiency"	0	0	183
Naegeli-Franceschetti-Jadassohn syndrome	franceschetti-jadassohn syndrome//naegeli syndrome//naegeli-franceschetti-jadassohn syndrome; nfjs//nfj syndrome//nfjs//naegeli's syndrome//naegeli-franceschetti-jadassohn syndrome//reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy	KRT14	KRT14	https://raresource.nih.gov/literature/disease/0003912	0003912	161000	69087	C0343111			keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Naegeli-Franceschetti-Jadassohn syndrome"	0	0	230
Proteasome-associated autoinflammatory syndrome 1	chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome//and dermatosis syndrome//and panniculitis-induced lipodystrophy//autoinflammation//jmp syndrome//joint contractures//lipodystrophy//microcytic anemia//muscular atrophy//nakajo-nishimura syndrome	PSMB8	PSMB8	https://raresource.nih.gov/literature/disease/0003916	0003916			C4746851			proteasome 20S subunit beta 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteasome-associated autoinflammatory syndrome 1"	0	0	7067
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//ighd 1b//ighd ib//ighd1b//ighd1b, formerly//ighd4//isolated growth hormone deficiency, type ib, formerly//isolated growth hormone deficiency, type iv; ighd4//isolated growth hormone deficiency, type ib//isolated growth hormone deficiency type 1b//isolated growth hormone deficiency, type 1b//isolated growth hormone deficiency type ib//isolated growth hormone deficiency, type ib; ighd1b	GH1;GHRHR	GH1;GHRHR	https://raresource.nih.gov/literature/disease/0003919	0003919	618157	231671	C2748571			growth hormone 1;growth hormone releasing hormone receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated growth hormone deficiency type IB"	0	0	12
Neuronal intestinal pseudoobstruction	argyrophil myenteric plexus, deficiency of//argyrophil myenteric plexus deficiency of//intestinal pseudoobstruction due to neuronal disease//intestinal pseudoobstruction with patent ductus arteriosus and natal teeth//neuronal intestinal dysplasia, type a//nid a//natal teeth, intestinal pseudoobstruction and patent ductus//neuronal intestinal dysplasia, type b//pseudoobstruction, chronic idiopathic intestinal, neuronal type//pseudoobstruction chronic idiopathic intestinal neuronal type//visceral neuropathy, familial, 1, autosomal recessive//vscn1//visceral neuropathy, familial, autosomal recessive//visceral neuropathy familial//natal teeth-intestinal pseudoobstruction-patent ductus syndrome//neuronal intestinal pseudoobstruction	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0003928	0003928	243185	99811	C1855733	C537394		filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuronal intestinal pseudoobstruction"	0	0	10
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	juvenile polyarthritis without rheumatoid factor//juvenile rheumatoid factor-negative polyarthritis//polyarthritis without rheumatoid factor//rf-ve cp//rheumatoid factor negative erosive chronic polyarthritis//rheumatoid factor-negative jia//rheumatoid factor-negative juvenile idiopathic arthritis//rheumatoid factor-negative polyarthritis//rheumatoid factor-negative polyarticular jia//negative rheumatoid factor polyarthritis	CD247;STAT4;PTPN2;PTPN22;IL2RB;IL2RA;ANKRD55	CD247;STAT4;PTPN2;PTPN22;IL2RB;IL2RA;ANKRD55	https://raresource.nih.gov/literature/disease/0003931	0003931		85408				CD247 molecule;signal transducer and activator of transcription 4;protein tyrosine phosphatase non-receptor type 2;protein tyrosine phosphatase non-receptor type 22;interleukin 2 receptor subunit beta;interleukin 2 receptor subunit alpha;ankyrin repeat domain 55	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"	0	0	28
Perlman syndrome	nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor//nephroblastomatosis fetal ascites macrosomia and wilms tumor//nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome//prlmns//perlman syndrome//perlman syndrome; prlmns//renal hamartomas, nephroblastomatosis, and fetal gigantism//renal hamartomas nephroblastomatosis and fetal gigantism//nephroblastomatosis - fetal ascites - macrosomia - wilms tumor//nephroblastomatosis, fetal ascites, macrosomia and wilms tumor//renal hamartomas, nephroblastomatosis and fetal gigantism	DIS3L2	DIS3L2	https://raresource.nih.gov/literature/disease/0003936	0003936	267000	2849	C0796113			DIS3 like 3'-5' exoribonuclease 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perlman syndrome"	0	0	56
Genetic steroid-resistant nephrotic syndrome	familial idiopathic nephrotic syndrome//familial idiopathic steroid-resistant nephrotic syndrome//genetic srns//hereditary steroid-resistant nephrotic syndrome//nephrotic syndrome, steroid-resistant, autosomal recessive//nphs2//nphs2 nephrotic syndrome//srn1//nephrotic syndrome caused by mutation in nphs2//nephrotic syndrome, idiopathic, steroid-resistant//nephrotic syndrome, type 2//nephrotic syndrome, type 2; nphs2//steroid-resistant autosomal recessive nephrotic syndrome	TRPC6;PTPRO;NPHS2;ANLN;CD2AP;ACTN4;PLCE1;NUP133;NUP160;DAAM2;NUP205;CRB2;MAGI2;COQ8B;ANKFY1;COL4A3;GAPVD1;INF2;TBC1D8B;ARHGAP24;NUP93;NUP107;NUP37;WT1;NUP85;PAX2;NPHS1;MYO1E;ARHGDIA;APOL1;EMP2	TRPC6;PTPRO;NPHS2;ANLN;CD2AP;ACTN4;PLCE1;NUP133;NUP160;DAAM2;NUP205;CRB2;MAGI2;COQ8B;ANKFY1;COL4A3;GAPVD1;INF2;TBC1D8B;ARHGAP24;NUP93;NUP107;NUP37;WT1;NUP85;PAX2;NPHS1;MYO1E;ARHGDIA;APOL1;EMP2	https://raresource.nih.gov/literature/disease/0003946	0003946	619201	656	C1868672			transient receptor potential cation channel subfamily C member 6;protein tyrosine phosphatase receptor type O;NPHS2 stomatin family member, podocin;anillin, actin binding protein;CD2 associated protein;actinin alpha 4;phospholipase C epsilon 1;nucleoporin 133;nucleoporin 160;dishevelled associated activator of morphogenesis 2;nucleoporin 205;crumbs cell polarity complex component 2;membrane associated guanylate kinase, WW and PDZ domain containing 2;coenzyme Q8B;ankyrin repeat and FYVE domain containing 1;collagen type IV alpha 3 chain;GTPase activating protein and VPS9 domains 1;inverted formin, FH2 and WH2 domain containing;TBC1 domain family member 8B;Rho GTPase activating protein 24;nucleoporin 93;nucleoporin 107;nucleoporin 37;WT1 transcription factor;nucleoporin 85;paired box 2;NPHS1 adhesion molecule, nephrin;myosin IE;Rho GDP dissociation inhibitor alpha;apolipoprotein L1;epithelial membrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Genetic steroid-resistant nephrotic syndrome"	0	0	23
Galactosialidosis	cathepsin a deficiency//cathepsin a deficiency of//cathepsin a, deficiency of//combined deficiency of neuroaminidase and beta galactosidase//combined deficiency of sialidase and beta galactosidase//deficiency of cathepsin a//goldberg syndrome//gsl//gsl - galactosialidosis//lysosomal protective protein deficiency//lysosomal protective protein deficiency of//lysosomal protective protein, deficiency of//neuraminidase deficiency with beta-galactosidase deficiency//neuraminidase/beta-galactosidase expression//ngbe//ppca deficiency//protective protein/cathepsin a deficiency//protective protein deficiency//protective protein-cathepsin a deficiency//galactosialidosis//galactosialidosis; gsl	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[]=Galactosialidosis"	0	0	5010
Amyotrophy, hereditary neuralgic	amyotrophy, hereditary neuralgic, with predilection for brachial plexus//brachial plexus neuropathy, hereditary//hna//hereditary brachial plexus neuropathy//hereditary neuralgic amyotrophy//napb//neuritis with brachial predilection//amyotrophy//amyotrophy, hereditary neuralgic//amyotrophy, hereditary neuralgic; hna//brachial plexus neuropathy//hereditary//hereditary neuralgic//neuralgic amyotrophy//with predilection for brachial plexus	SEPTIN9	SEPTIN9	https://raresource.nih.gov/literature/disease/0003955	0003955			C1834304			septin 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophy, hereditary neuralgic"	0	0	186
Choreoacanthocytosis	acanthocytosis with neurologic disorder//acanthocytoses, chorea//acanthocytosis, chorea//chac//chorea-acanthocytosis//choreoacanthocytosis; chac//chorea acanthocytoses//chorea acanthocytosis syndrome//chorea acanthocytosis syndromes//chorea acanthocytosis//chorea-acanthocytoses//choreaacanthocytosis//choreoacanthocytoses//levine-critchley syndrome//levine critchley syndrome//neuroacanthocytosis//choreo-acanthocytosis//choreoacanthocytosis	VPS13A	VPS13A	https://raresource.nih.gov/literature/disease/0003956	0003956	200150	2388	C0393576			vacuolar protein sorting 13 homolog A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choreoacanthocytosis"	0	0	464
Infantile neuroaxonal dystrophy	hunter carpenter macdonald syndrome//hunter-carpenter-mcdonald syndrome//inad//inad1//infantile neuroaxonal dystrophy 1//infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy//karak syndrome, included//nbia2a//nbia2b//neuroaxonal dystrophy, atypical//neuroaxonal dystrophy, infantile//neurodegeneration with brain iron accumulation, pla2g6-related//neurodegeneration, pla2g6-associated//neurodegeneration with brain iron accumulation 2b//plan//phospholipase a2-associated neurodegeneration//seitelberger disease//infantile neuroaxonal dystrophy//neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene//neurodegeneration with brain iron accumulation 2a//neurodegeneration with brain iron accumulation 2a; nbia2a//neurodegeneration with brain iron accumulation type 2a	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0003957	0003957	610217	35069	C0270724			phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile neuroaxonal dystrophy"	0	0	350
Neuronal intranuclear inclusion disease	niid//neuronal intranuclear hyaline inclusion disease//neuronal intranuclear inclusion disease	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"	0	0	325
Navajo neurohepatopathy	mpv17- related hepatocerebral mitochondrial dna depletion syndrome//mpv17- related mitochondrial dna depletion syndrome, hepatocerebral form//mpv17-associated hepatocerebral mds//mpv17-related hepatocerebral mitochondrial dna depletion syndrome//mtdps6//mitochondrial dna depletion syndrome 6//navajo familial neurogenic arthropathy//navajo neurohepatopathy//navajo neuropathy//nn//nnh//mitochondrial dna depletion syndrome 6 (hepatocerebral type)//mitochondrial dna depletion syndrome 6 (hepatocerebral type); mtdps6	MPV17	MPV17	https://raresource.nih.gov/literature/disease/0003972	0003972	256810	255229	C1850406			mitochondrial inner membrane protein MPV17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Navajo neurohepatopathy"	0	0	474
Hereditary sensory and autonomic neuropathy type 2	autosomal recessive sensory radicular neuropathy//cmt2//charcot marie tooth disease, type ii//charcot marie tooth disease, type 2//charcot-marie-tooth disease, type ii//charcot-marie-tooth neuropathy type 2//charcot-marie-tooth type 2//charcot-marie-tooth, type 2//dominant hereditary sensory neuropathy, type ii//giaccai type acroosteolysis//hmsn ii//hmsn type ii//hsan2//hereditary motor and sensory neuropathy type ii//hereditary motor and sensory-neuropathy type ii//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//inherited neuronal peroneal muscular atrophy//morvan disease//neurogenic acroosteolysis//neuropathy, type ii hereditary motor and sensory//neuropathy, congenital sensory//neuropathy, progressive sensory, of children//painless whitlow disease//peroneal muscular atrophy of neuronal type//autosomal dominant charcot-marie-tooth disease type 2//autosomal dominant axonal charcot-marie-tooth disease//hereditary motor and sensory neuropathy guadalajara neuronal type//hereditary motor and sensory neuropathy okinawa type//hereditary motor and sensory neuropathy type 2//hereditary sensory and autonomic neuropathy type 2	SCN9A;KIF1A;WNK1;RETREG1	SCN9A;KIF1A;WNK1;RETREG1	https://raresource.nih.gov/literature/disease/0003976	0003976	614213	970	C0020072			sodium voltage-gated channel alpha subunit 9;kinesin family member 1A;WNK lysine deficient protein kinase 1;reticulophagy regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 2"	0	0	473
Neutral lipid storage disease with ichthyosis	cds//chanarin-dorfman disease//chanarin-dorfman syndrome//chanarin-dorfman syndrome; cds//dcs//dorfman-chanarin syndrome//disorder of cornification 12 (neutral lipid storage type)//dorfman chanarin syndrome//dorfman-chanarin disease//ichthyosiform erythroderma with leukocyte vacuolation//ichthyotic neutral lipid storage disease//neutral lipid storage disease with ichthyosis//nlsdi//neutral lipid storage disease with ichthyotic//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[]=Neutral lipid storage disease with ichthyosis"	0	0	1814
X-linked severe congenital neutropenia	scnx//severe congenital neutropenia x-linked//was-related disorders//xln//neutropenia, severe congenital, x-linked//neutropenia, severe congenital, x-linked; scnx//severe congenital neutropenia, x-linked	WAS	WAS	https://raresource.nih.gov/literature/disease/0003981	0003981	300299	86788	C1845987			WASP actin nucleation promoting factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked severe congenital neutropenia"	0	0	1007
Familial multiple nevi flammei	capillary malformations//cmal//cmc//familial multiple port-wine stains//nevi flammei, familial multiple//nevus flammeus//nevus simplex//port-wine stain//pws - port-wine stain//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 stains//port-wine birthmark//port-wine nevus//port-wine stain familial multiple//port-wine stain of skin//portwine nevus//salmon patch nevus//stain, port-wine//stains, port-wine//stork bite//unna's nevus//capillary malformations, congenital//capillary malformations, congenital; cmc//congenital capillary malformations//familial multiple nevi flammei	GNAQ	GNAQ	https://raresource.nih.gov/literature/disease/0003986	0003986	163000	624	C0235752	D019339		G protein subunit alpha q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial multiple nevi flammei"	0	0	2321
Congenital stationary night blindness	congenital essential nyctalopia//congenital stationary night blindness with myopia//hemeralopia-myopia//myopia-night blindness//x-linked csnb//x-linked congenital stationary night blindness//xlcsnb//congenital stationary night blindness, x-linked	LRIT3;GPR179;SLC24A1;GNAT1;GNB3;GRM6;TRPM1;NYX;CACNA2D4;CACNA1F;CABP4;PDE6B;SAG;GRK1;RHO	LRIT3;GPR179;SLC24A1;GNAT1;GNB3;GRM6;TRPM1;NYX;CACNA2D4;CACNA1F;CABP4;PDE6B;SAG;GRK1;RHO	https://raresource.nih.gov/literature/disease/0003995	0003995	616389	215	C0339535	C536122		leucine rich repeat, Ig-like and transmembrane domains 3;G protein-coupled receptor 179;solute carrier family 24 member 1;G protein subunit alpha transducin 1;G protein subunit beta 3;glutamate metabotropic receptor 6;transient receptor potential cation channel subfamily M member 1;nyctalopin;calcium voltage-gated channel auxiliary subunit alpha2delta 4;calcium voltage-gated channel subunit alpha1 F;calcium binding protein 4;phosphodiesterase 6B;S-antigen visual arrestin;G protein-coupled receptor kinase 1;rhodopsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital stationary night blindness"	0	0	441
Progressive epilepsy-intellectual disability syndrome, Finnish type	cln8 disease//ncl//neuronal ceroid lipofuscinosis//northern epilepsy//northern epilepsy variant	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[]=Progressive epilepsy-intellectual disability syndrome, Finnish type"	0	0	1373
Familial LCAT deficiency	complete lcat deficiency//fld//lcat deficiency//lecithin:cholesterol acyltransferase deficiency//norum disease//familial lcat deficiency//lecithin acyltransferase deficiency	LCAT	LCAT	https://raresource.nih.gov/literature/disease/0004011	0004011	245900	79293				lecithin-cholesterol acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial LCAT deficiency"	0	0	817
Occipital horn syndrome	cutis laxa, x-linked, formerly//cutis laxa, x-linked//cutis laxa x-linked//eds ix//eds ix (formerly)//eds ix, formerly//eds9//eds9, formerly//ehlers-danlos syndrome, occipital horn type, formerly//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, occipital horn type (formerly)//ehlers-danlos syndrome, type 9//ehlers-danlos syndrome, x-linked skeletal type//ohs//x-linked cutis laxa//occipital horn syndrome//occipital horn syndrome; ohs	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[]=Occipital horn syndrome"	0	0	544
Oculocutaneous albinism type 2	albinism ii//albinism, brown oculocutaneous//albinism 2//albinism, oculocutaneous, type ii//albinism, oculocutaneous, type 2//albinoidism//boca//brown oculocutaneous albinism//oca2//oca2 - tyrosinase-positive oculocutaneous albinism//oculocutaneous albinism, type ii//oculocutaneous albinism, tyrosinase-positive//oculocutaneous albinism type 2//oculocutaneous albinism tyrosinase positive//tyrosinase-positive oculocutaneous albinism//albinism, oculocutaneous, type ii; oca2//oculocutaneous albinism type ii//oculocutaneous albinism, type 2	OCA2;MC1R	OCA2;MC1R	https://raresource.nih.gov/literature/disease/0004038	0004038	203200	79432	C0268495	C537730		OCA2 melanosomal transmembrane protein;melanocortin 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 2"	0	0	500
Oculocutaneous albinism type 3	albinism iii//albinism 3//albinism, oculocutaneous, type iii//albinism, oculocutaneous, type 3//oca3//oculocutaneous albinism, type iii//roca//rufous oculocutaneous albinism//red oculocutaneous albinism//red-skin albinism//rufous oca//rufous albinism//tyrp1 oculocutaneous albinism//xanthism//xanthous oculocutaneous albinism//albinism, oculocutaneous, type iii; oca3//oculocutaneous albinism caused by mutation in tyrp1//oculocutaneous albinism type 3//oculocutaneous albinism type iii//oculocutaneous albinism, type 3	TYRP1	TYRP1	https://raresource.nih.gov/literature/disease/0004039	0004039	203290	79433	C2931599	C537731		tyrosinase related protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculocutaneous albinism type 3"	0	0	16
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	arthrogryposis with oculomotor limitation and electroretinal abnormalities//arthrogryposis, distal, type 5//arthrogryposis, distal, type iib//arthogryposis with oculomotor limitation and electroretinal abnormalities//arthrogryposis multiple congenita, ophthalmoplegia, ptosis//arthrogryposis ophthalmoplegia retinopathy//arthrogryposis with oculomotor limitation and electroretinal anomaly//arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome//da5//daiib//distal arthrogryposis type 5//distal arthrogryposis type iib//distal arthrogryposis with ophthalmoplegia//oculomelic amyoplasia//arthrogryposis, distal, type 2b//arthrogryposis, distal, type 5; da5//arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	PIEZO2	PIEZO2	https://raresource.nih.gov/literature/disease/0004047	0004047	108145	1154	C1834523			piezo type mechanosensitive ion channel component 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"	0	0	25
Odonto-onycho-dermal dysplasia	ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type//oodd//odontoonychodermal dysplasia//ectodermal dysplasia//odonto-onycho-dermal dysplasia//odontoonychodermal 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"	0	0	1434
Infantile-onset spinocerebellar ataxia	c10orf2-related mitochondrial dna depletion syndrome, hepatocerebral form//iosca//infantile onset spinocerebellar ataxia//infantile-onset spinocerebellar ataxia//mtdps7//mitochondrial dna depletion syndrome 7 (hepatocerebral type)//ohaha syndrome//ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis//ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis//ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis//ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome//ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome//sca8 (formerly)//sca8, formerly//spinocerebellar ataxia 8, formerly//spinocerebellar ataxia, infantile, with sensory neuropathy//spinocerebellar ataxia, infantile-onset//spinocerebellar ataxia 8 (formerly)//spinocerebellar ataxia infantile with sensory neuropathy//twnk autosomal recessive degenerative and progressive cerebellar ataxia//autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk//mitochondrial dna depletion syndrome 7//mitochondrial dna depletion syndrome 7 (hepatocerebral type); mtdps7//mitochondrial dna depletion syndrome type 7//mitochondrial dna depletion syndrome, hepatocerebrorenal form//mtdna depletion syndrome, hepatocerebrorenal form//spinocerebellar ataxia 8	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"	0	0	38
Spinocerebellar ataxia type 1	atxn1 autosomal dominant cerebellar ataxia type i//ataxia 1, spinocerebellar//atrophy i, olivopontocerebellar//atrophy i, spinocerebellar//atrophy iv, olivopontocerebellar//atrophy ivs, olivopontocerebellar//cerebelloparenchymal disorder i//cpd1//cerebelloparenchymal disorder is//cerebelloparenchymal disorder 1//menzel type opca//olivopontocerebellar atrophy i//olivopontocerebellar atrophy iv//opca 1//opca 4//opca i//opca iv//opca, menzel type//opca, schut-haymaker type//opca1//opca4//olivopontocerebellar atrophy ivs//olivopontocerebellar atrophy is//olivopontocerebellar atrophy 1//olivopontocerebellar atrophy 4//sca1//sca1s//schut-haymaker type opca//spinocerebellar atrophy i//schut haymaker type opca//spinocerebellar ataxia 1s//spinocerebellar ataxia-1//spinocerebellar atrophy is//spinocerebellar ataxia 1//spinocerebellar atrophy 1//type 1 spinocerebellar ataxia//autosomal dominant cerebellar ataxia type i caused by mutation in atxn1//spinocerebellar ataxia 1; sca1//spinocerebellar ataxia type 1	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"	0	0	658
Spinocerebellar ataxia type 2	als13//amyotrophic lateral sclerosis, susceptibility to, 13//atxn2 autosomal dominant cerebellar ataxia type i//ataxia 2, spinocerebellar//ataxia 2s, spinocerebellar//atrophy 2, olivopontocerebellar//atrophy 2, spinocerebellar//atrophy 2s, olivopontocerebellar//atrophy 2s, spinocerebellar//atrophy ii, olivopontocerebellar//atrophy ii, spinocerebellar//atrophy iis, olivopontocerebellar//atrophy iis, spinocerebellar//cerebellar degeneration with slow eye movements//ii, olivopontocerebellar atrophy//ii, spinocerebellar atrophy//iis, olivopontocerebellar atrophy//iis, spinocerebellar atrophy//olivopontocerebellar atrophy ii//olivopontocerebellar atrophy, holguin type//opca2//olivopontocerebellar atrophy 2s//olivopontocerebellar atrophy iis//olivopontocerebellar atrophy 2//olivopontocerebellar atrophy holguin type//sca 2//sca2//sdsem//spinocerebellar ataxia, cuban type//spinocerebellar atrophy ii//spinocerebellar degeneration with slow eye movements//spinocerebellar ataxia 2s//spinocerebellar ataxia-2//spinocerebellar atrophy 2s//spinocerebellar atrophy iis//spinocerebellar ataxia 2//spinocerebellar ataxia cuban type//spinocerebellar ataxia with slow eye movements//spinocerebellar atrophy 2//swami syndrome, wadia//syndrome, wadia swami//syndrome, wadia-swami//type 2 spinocerebellar ataxia//wadia-swami syndrome//wadia swami syndrome//amyotrophic lateral sclerosis 13//amyotrophic lateral sclerosis type 13//autosomal dominant cerebellar ataxia type i caused by mutation in atxn2//spinocerebellar ataxia 2; sca2//spinocerebellar ataxia type 2	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"	0	0	5269
Mutilating palmoplantar keratoderma with periorificial keratotic plaques	mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques//olms//olms1//olmsted syndrome//palmoplantar keratoderma, mutilating, with periorificial keratotic plaques//palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1//ppkm1//palmoplantar and periorificial keratoderma	MBTPS2;TRPV3;PERP	MBTPS2;TRPV3;PERP	https://raresource.nih.gov/literature/disease/0004075	0004075	614594	659	C2609071			membrane bound transcription factor peptidase, site 2;transient receptor potential cation channel subfamily V member 3;p53 apoptosis effector related to PMP22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mutilating palmoplantar keratoderma with periorificial keratotic plaques"	0	0	111
Autosomal recessive omodysplasia	micromelic dysplasia, congenital, with dislocation of radius//micromelic dysplasia - dislocation of radius//micromelic dysplasia congenita with dislocation of radius//micromelic dysplasia, dislocation of radius syndrome//micromelic dysplasia-dislocation of radius syndrome//omod1//omodysplasia, autosomal recessive//omodysplasia, generalized form//omodysplasia (maroteaux)//omodysplasia 1//omodysplasia autosomal recessive//omodysplasia autosomal recessive form//omodysplasia generalized form//autosomal recessive omodysplasia//omodysplasia 1; omod1//omodysplasia type 1	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"	0	0	12
Poikiloderma with neutropenia	clericuzio type//clericuzio type poikiloderma with neutropenia//pn//poikiloderma with neutropenia, clericuzio-type//poikiloderma with neutropenia clericuzio type//poikiloderma with neutropenia, clericuzio type//poikiloderma with neutropenia//poikiloderma with neutropenia; pn	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"	0	0	1864
Opsismodysplasia	opsismodysplasia; opsmd//opsmd//opsismodysplasia	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"	0	0	25
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//coloboma-ureteral-renal syndrome//optic coloboma, vesicoureteral reflux, and renal anomalies//optic nerve coloboma with renal disease//optic nerve coloboma renal syndrome//papillorenal syndrome with mild ocular abnormalities//papillorenal syndrome; paprs//paprs//papillo-renal syndrome//papillorenal syndrome//renal-coloboma syndrome//renal-coloboma syndrome with macular abnormalities//renal coloboma syndrome//renal hypoplasia, isolated//optic coloboma, vesicoureteral reflux and renal anomalies//papillo-renal syndrome, optic nerve coloboma with renal disease	PAX2	PAX2	https://raresource.nih.gov/literature/disease/0004106	0004106	120330	1475	C1852759			paired box 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Renal coloboma syndrome"	0	0	122
Orofaciodigital syndrome type 5	c2cd3 orofaciodigital syndrome//microcephaly-cerebral malformation-orofaciodigital syndrome//ofd syndrome 5//ofd14//ofd5//ofds 5//ofds v//oral-facial-digital syndrome, type v//orofaciodigital syndrome, thurston type//oral facial digital syndrome 5//oral facial digital syndrome type 5//oral-facial-digital syndrome 5//oral-facial-digital syndrome type 14//oral-facial-digital syndrome type 5//oro-facial digital syndrome type 5//orofaciodigital syndrome//orofaciodigital syndrome 5//orofaciodigital syndrome v//polydactyly, postaxial, with median cleft of upper lip//polydactyly postaxial with median cleft of upper lip//thurston syndrome//thurston type//oral-facial-digital syndrome, type 5//orofaciodigital syndrome 14//orofaciodigital syndrome thurston type//orofaciodigital syndrome v; ofd5//orofaciodigital syndrome xiv//orofaciodigital syndrome xiv; ofd14//orofaciodigital syndrome caused by mutation in c2cd3//orofaciodigital syndrome type 14//orofaciodigital syndrome type 5//orofaciodigital syndrome type v	DDX59	DDX59	https://raresource.nih.gov/literature/disease/0004120	0004120	174300	2919	C1868118			DEAD-box helicase 59	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 5"	0	0	81
Orofaciodigital syndrome type 1	gorlin psaume syndrome//gorlin-psaume syndrome//ofd syndrome 1//ofd1//ofd7//ofdi//ofds 1//ofds i//ofds vii//ofdsi//oral-facial-digital syndrome, type i//oral-facial-digital syndrome, type vii//ofds 7//oral facial digital syndrome, type i//oral facial digital syndrome 1//oral facial digital syndrome type 1//oral-facial-digital syndrome type i//oral-facial-digital syndrome 1//oral-facial-digital syndrome type 1//oral-facial-digital syndrome, type 1//oro-facial digital syndrome type 1//orofaciodigital syndrome is//orofaciodigital syndrome 1//orofaciodigital syndrome i//papillon-leage and psaume syndrome//papillon leage and psaume syndrome//papillon léage psaume syndrome//papillon-leage-psaume syndrome//papillon-league-psaume syndrome//papillon-league-psaume syndrome (formerly)//papillon-léage-psaume syndrome//syndrome, gorlin-psaume//whelan syndrome//oral-facial-digital syndrome, type 7//orofaciodigital syndrome 7//orofaciodigital syndrome i; ofd1//orofaciodigital syndrome vii//orofaciodigital syndrome vii; ofd7//orofaciodigital syndrome type 1//orofaciodigital syndrome type 7//orofaciodigital syndrome type i//orofaciodigital syndrome type vii	OFD1	OFD1	https://raresource.nih.gov/literature/disease/0004121	0004121	311200	2750	C1510460			OFD1 centriole and centriolar satellite protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 1"	0	0	120
Otospondylomegaepiphyseal dysplasia	chondrodystrophy with sensorineural deafness//insley-astley syndrome//nance-insley syndrome//nance-sweeney chondrodysplasia//nance sweeney chondrodysplasia//osmed//osmed syndrome//osmedb//oto-spondylo-mega-epiphyseal dysplasia//weissenbacher-zweymuller syndrome, formerly//wzs, formerly//weissenbacher-zweymuller syndrome//otospondylmegaepiphyseal dysplasia//otospondylomegaepiphyseal dysplasia//otospondylomegaepiphyseal dysplasia, autosomal recessive//otospondylomegaepiphyseal dysplasia, autosomal recessive; osmedb//otospondylomegaepiphyseal dysplasia; osmed	COL11A2	COL11A2	https://raresource.nih.gov/literature/disease/0004130	0004130	215150	1427				collagen type XI alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otospondylomegaepiphyseal dysplasia"	0	0	32
Familial osteochondritis dissecans	dissecans, osteochondritis//idiopathic avascular necrosis//koenig disease//konig disease//könig disease//ocd//ocd - osteochondritis dissecans//od//od - osteochondritis dissecans//osteochondritis dissecans, short stature, and early-onset osteoarthritis//osteochondritis dissecans//osteochondritis dissecans and short stature//osteochondrosis dissecans//short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans//ssoaod//familial osteochondritis dissecans//osteochondritis dissecans, short stature, and early-onset osteoarthritis; od//osteochondritis dissecans (disease)//short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans; ssoaod//short stature-advanced bone age-early-onset osteoarthritis syndrome	ACAN	ACAN	https://raresource.nih.gov/literature/disease/0004133	0004133	165800	251262	C3665488			aggrecan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial osteochondritis dissecans"	0	0	14332
Osteoglosphonic dysplasia	fairbank-keats syndrome//ogd//osteoglophonic dwarfism//osteoglophonic dysplasia//osteoglophonic dysplasia; ogd	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[]=Osteoglosphonic dysplasia"	0	0	346
Osteopathia striata-cranial sclerosis syndrome	hyperostosis generalisata with striations//oscs//osteopathia striata with cranial sclerosis//osteopathia striata - cranial sclerosis//osteopathia striata cranial sclerosis//robinow-unger syndrome//voorhoeve disease//osteopathia striata with cranial sclerosis; oscs//osteopathia striata-cranial sclerosis 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-cranial sclerosis syndrome"	0	0	65
Autosomal dominant osteopetrosis type 1	lrp5 osteopetrosis (disease)//lrp5-related autosomal dominant osteopetrosis//opta1//osteopetrosis, autosomal dominant, type i//osteopetrosis autosomal dominant type 1//osteopetrosis, autosomal dominant 1//autosomal dominant osteopetrosis 1//autosomal dominant osteopetrosis type 1//osteopetrosis (disease) caused by mutation in lrp5//osteopetrosis, autosomal dominant 1; opta1//osteopetrosis, autosomal dominant type 1//osteopetrosis, autosomal dominant, type 1	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 type 1"	0	0	None
Osteopetrosis, autosomal recessive 5	autosomal recessive osteopetrosis type 5//infantile osteopetrosis and neuronal storage disease//optb5//osteopetrosis, infantile malignant 3//ostm1 osteopetrosis (disease)//osteopetrosis//osteopetrosis and infantile neuroaxonal dystrophy//osteopetrosis autosomal recessive 5//osteopetrosis infantile malignant 3//prenatal axonal dystrophy and osteopetrosis//infantile malignant 3//infantile malignant osteopetrosis 3//infantile osteopetrosis with neuroaxonal dysplasia//osteopetrosis (disease) caused by mutation in ostm1//osteopetrosis, autosomal recessive 5//osteopetrosis, autosomal recessive 5; optb5//osteopetrosis, autosomal recessive type 5	OSTM1	OSTM1	https://raresource.nih.gov/literature/disease/0004153	0004153			C1968603			osteoclastogenesis associated transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis, autosomal recessive 5"	0	0	2148
Osteopetrosis with renal tubular acidosis	autosomal recessive osteopetrosis, type 3//autosomal recessive osteopetrosis type 3//ca2 osteopetrosis (disease)//carbonic anhydrase ii deficiency//carbonic anhydrase 2 deficiency//guibaud-vainsel syndrome//guibaud vainsel syndrome//marble brain disease//mixed rta//mixed renal tubular acidosis//optb3//osteopetrosis with renal tubular acidosis//osteopetrosis autosomal recessive 3//osteopetrosis, autosomal recessive 3//renal tubular acidosis type 3//autosomal recessive osteopetrosis 3//autosomal recessive osteopetrosis 3 with renal tubular acidosis//osteopetrosis (disease) caused by mutation in ca2//osteopetrosis, autosomal recessive 3; optb3//osteopetrosis, autosomal recessive type 3	CA2	CA2	https://raresource.nih.gov/literature/disease/0004154	0004154	259730	2785	C1849435	C536058		carbonic anhydrase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis with renal tubular acidosis"	0	0	65
Intermediate osteopetrosis	autosomal recessive intermediate osteopetrosis//autosomal recessive osteopetrosis type 6//optb6//osteopetrosis, autosomal recessive, intermediate form//osteopetrosis autosomal recessive 6//osteopetrosis autosomal recessive intermediate form//plekhm1 osteopetrosis (disease)//plekhm1-related autosomal recessive osteopetrosis//autosomal recessive osteopetrosis 6//autosomal recessive osteopetrosis intermediate form//intermediate osteopetrosis//osteopetrosis (disease) caused by mutation in plekhm1//osteopetrosis, autosomal recessive 6//osteopetrosis, autosomal recessive 6; optb6//osteopetrosis, autosomal recessive type 6	CLCN7;PLEKHM1;TCIRG1	CLCN7;PLEKHM1;TCIRG1	https://raresource.nih.gov/literature/disease/0004156	0004156	611497	210110	C1969093			chloride voltage-gated channel 7;pleckstrin homology and RUN domain containing M1;T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate osteopetrosis"	0	0	8
Osteopetrosis, autosomal recessive 2	autosomal recessive osteopetrosis type 2//mild autosomal recessive form of osteopetrosis//optb2//osteopetrosis, mild autosomal recessive form//osteopetrosis, osteoclast-poor//osteopetrosis//osteopetrosis autosomal recessive 2//osteopetrosis osteoclast-poor//osteopetrosis, autosomal recessive 2//tnfsf11 autosomal recessive malignant osteopetrosis//tnfsf11 autosomal recessive osteopetrosis//autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11//autosomal recessive osteopetrosis caused by mutation in tnfsf11//mild autosomal recessive form//mild autosomal recessive form osteopetrosis//osteoclast-poor//osteoclast-poor osteopetrosis//osteopetrosis, autosomal recessive 2; optb2//osteopetrosis, autosomal recessive type 2	TNFSF11	TNFSF11	https://raresource.nih.gov/literature/disease/0004157	0004157			C1850126			TNF superfamily member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis, autosomal recessive 2"	0	0	1983
Osteoporosis-pseudoglioma syndrome	oppg//ops//osteogenesis imperfecta, ocular form//ocular form of osteogenesis imperfecta//osteogenesis imperfecta ocular form//osteoporosis pseudoglioma syndrome//osteoporosis with pseudoglioma//pseudoglioma with bone fragility//osteoporosis-pseudoglioma syndrome//osteoporosis-pseudoglioma syndrome; oppg	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-pseudoglioma syndrome"	0	0	182
Heart defect-tongue hamartoma-polysyndactyly syndrome	chdthp//congenital heart defects, hamartomas of tongue, and polysyndactyly//heart defect, tongue hamartoma, polysyndactyly syndrome//orstavik lindemann solberg syndrome//ostravik lindemann solberg syndrome//ostravik-lindemann-solberg syndrome//congenital heart defects, hamartomas of tongue, and polysyndactyly; chdthp//heart defect - tongue hamartoma - polysyndactyly syndrome//heart defect, tongue hamartoma and polysyndactyly//heart defect-tongue hamartoma-polysyndactyly syndrome	WDPCP	WDPCP	https://raresource.nih.gov/literature/disease/0004166	0004166	217085	1338	C2931046	C535849		WD repeat containing planar cell polarity effector	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Heart defect-tongue hamartoma-polysyndactyly syndrome"	0	0	88
Otodental syndrome	chromosome 11q13 deletion syndrome//globodontia//oculootodental syndrome//otodental syndrome//otodental syndrome with coloboma//otodental dysplasia	FGF3	FGF3	https://raresource.nih.gov/literature/disease/0004168	0004168	166750	2791	C1833693			fibroblast growth factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otodental syndrome"	0	0	31
Otofaciocervical syndrome	eya1 otofaciocervical syndrome//familial oto-facio-cervical dysmorphia//fara-chlupackova syndrome//ofc//ofc syndrome//ofc1//otfcs//otofaciocervical syndrome//otofaciocervical syndrome 1//otofaciocervical syndrome 1; otfcs//otofaciocervical syndrome caused by mutation in eya1	PAX1;EYA1	PAX1;EYA1	https://raresource.nih.gov/literature/disease/0004169	0004169	615560	2792	C1833691			paired box 1;EYA transcriptional coactivator and phosphatase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Otofaciocervical syndrome"	0	0	266
Overhydrated hereditary stomatocytosis	ohs//ohst//overhydrated hereditary stomatocytosis; ohs//overhydrated hereditary stomatocytosis; ohst//overhydrated hereditary stomatocytosis//potassium-sodium disorder of erythrocyte//potassium sodium disorder of erythrocyte//stomatocytosis i//stomatocytosis 1//stomatocytosisiohst	RHAG	RHAG	https://raresource.nih.gov/literature/disease/0004183	0004183	185000	3203				Rh associated glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Overhydrated hereditary stomatocytosis"	0	0	508
Partial pancreatic agenesis	agenesis of the dorsal pancreas//complete agenesis of the dorsal pancreas//congenital pancreatic agenesis//congenital short pancreas//pancreas agenesis, dorsal//pancreas, dorsal, agenesis of//partial agenesis of the dorsal pancreas//partial agenesis of the pancreas	PDX1;PTF1A	PDX1;PTF1A	https://raresource.nih.gov/literature/disease/0004203	0004203	260370	2805	C1850096			pancreatic and duodenal homeobox 1;pancreas associated transcription factor 1a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial pancreatic agenesis"	0	0	93
Familial pancreatic carcinoma	familial pancreatic cancer//familial pancreatic carcinoma//hereditary pancreatic cancer//hereditary pancreatic carcinoma//pancreatic acinar carcinoma//pancreatic carcinoma//pancreatic carcinoma, familial//hereditary exocrine pancreatic carcinoma	CDKN2A;PALLD;PALB2;RABL3;BRCA1;KRAS;SMAD4;BRCA2;TP53	CDKN2A;PALLD;PALB2;RABL3;BRCA1;KRAS;SMAD4;BRCA2;TP53	https://raresource.nih.gov/literature/disease/0004206	0004206	614320	1333	C2931038	C535837		cyclin dependent kinase inhibitor 2A;palladin, cytoskeletal associated protein;partner and localizer of BRCA2;RAB, member of RAS oncogene family like 3;BRCA1 DNA repair associated;KRAS proto-oncogene, GTPase;SMAD family member 4;BRCA2 DNA repair associated;tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial pancreatic carcinoma"	0	0	6431
Polyostotic fibrous dysplasia	panostotic fibrous dysplasia//unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia	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"	0	0	554
Papilloma of choroid plexus	choroid plexus carcinoma//choroid plexus papilloma//cpc//cpp//choroid plexus papillomas//choroid plexus papilloma, no international classification of diseases for oncology subtype//papilloma of choroid plexus//papilloma, choroid plexus//papillomas, choroid plexus//childhood choroid plexus papilloma//choroid plexus papilloma, no icd-o subtype//papilloma of choroid plexus; cpp//papilloma of the choroid plexus//papilloma, choroid plexus, benign	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[]=Papilloma of choroid plexus"	0	0	1211
Autosomal dominant spastic paraplegia type 17	bscl2 hereditary spastic paraplegia//bscl2-related neurologic disorders/seipinopathy//distal hereditary motor neuropathy type 5b//silver spastic paraplegia syndrome//silver syndrome//spastic paraplegia with amyotrophy of hands and feet//spg17//spastic paraplegia 17//spastic paraplegia-amyotrophy of hands and feet//autosomal dominant spastic paraplegia 17//autosomal dominant spastic paraplegia type 17//dhmn5b//hereditary spastic paraplegia 17//hereditary spastic paraplegia caused by mutation in bscl2//hereditary spastic paraplegia type 17//spastic paraplegia 17, autosomal dominant//spastic paraplegia 17, autosomal dominant; spg17	BSCL2	BSCL2	https://raresource.nih.gov/literature/disease/0004219	0004219	270685	100998	C2931276			BSCL2 lipid droplet biogenesis associated, seipin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant spastic paraplegia type 17"	0	0	45
Parastremmatic dwarfism	parastremmatic dysplasia//parastremmatic dwarfism	TRPV4	TRPV4	https://raresource.nih.gov/literature/disease/0004222	0004222	168400	2646	C1868616	C537172		transient receptor potential cation channel subfamily V member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parastremmatic dwarfism"	0	0	14
Paris-Trousseau thrombocytopenia	11q23 deletion disorder//chromosome 11q23 deletion syndrome//deletion disorder, 11q23//jacobsen thrombocytopenia//paris trousseau syndrome//paris trousseau thrombocytopenia//paris-trousseau type thrombocytopenia//paris-trousseau type thrombocytopenias//paris-trousseau syndrome//tcpt//thrombocytopenia paris-trousseau type//thrombocytopenia, jacobsen//thrombocytopenia, paris trousseau type//thrombocytopenia, paris-trousseau//type thrombocytopenia, paris-trousseau//thrombocytopenia, paris-trousseau type//thrombocytopenia, paris-trousseau type; tcpt	FLI1	FLI1	https://raresource.nih.gov/literature/disease/0004224	0004224	617443	851	C1861178	C538617		Fli-1 proto-oncogene, ETS transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paris-Trousseau thrombocytopenia"	0	0	23
Idiopathic ventricular fibrillation, non Brugada type	familial paroxysmal ventricular fibrillation//familial paroxysmal ventricular fibrillation, non brugada type//familial paroxysmal ventricular fibrillation, not brugada type//ivf//idiopathic ventricular fibrillation//paroxysmal familial ventricular fibrillation//paroxysmal ventricular fibrillation//ventricular fibrillation during myocardial infarction, susceptibility to//vf//vf1//ventricular fibrillation, paroxysmal familial//idiopathic ventricular fibrillation, non brugada type//non brugada type//paroxysmal familial ventricular fibrillation (disorder)//ventricular fibrillation, paroxysmal familial, 1//ventricular fibrillation, paroxysmal familial, 1; vf1//ventricular fibrillation, paroxysmal familial, type 1	SCN5A;DPP6	SCN5A;DPP6	https://raresource.nih.gov/literature/disease/0004227	0004227	612956	228140				sodium voltage-gated channel alpha subunit 5;dipeptidyl peptidase like 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic ventricular fibrillation, non Brugada type"	0	0	6645
Neuralgic amyotrophy	acute brachial neuritis//acute brachial neuritis syndrome//acute brachial plexus neuritis//acute brachial radiculitis syndrome//acute shoulder neuritis//amyotrophic neuralgia//amyotrophic neuralgias//amyotrophies, hereditary neuralgic//amyotrophies, neuralgic//amyotrophy, hereditary neuralgic//amyotrophy, hereditary neuralgic, with predilection for brachial plexus//amyotrophy, neuralgic//brachial neuralgia//brachial neuralgias//brachial neuritides//brachial neuritis//brachial plexus neuritides//brachial plexus neuropathy, hereditary//brachial neuritis (disorder)//brachial plexus neuritis//cervico brachial neuralgia//cervico-brachial neuralgia//cervico-brachial neuralgias//cervicobrachial neuralgia//cervicobrachial neuralgias//familial brachial plexus neuritis//girdle neuropathies, shoulder//girdle neuropathy, shoulder//hereditary brachial plexus neuropathy//hereditary neuralgic amyotrophies//hereditary neuralgic amyotrophy//heredofamilial neuritis with brachial plexus predilection//idiopathic neuralgic amyotrophy//immune brachial plexus neuropathy//mononeuritis multiplex with brachial predilection//neuralgia, amyotrophic//neuralgia, brachial//neuralgia, cervico-brachial//neuralgia, cervicobrachial//neuralgias, amyotrophic//neuralgias, brachial//neuralgias, cervico-brachial//neuralgias, cervicobrachial//neuralgic amyotrophies//neuralgic amyotrophies, hereditary//neuralgic amyotrophy//neuralgic amyotrophy, hereditary//neuralgic shoulder amyotrophy//neuritides, brachial//neuritides, brachial plexus//neuritis with brachial predilection//neuritis, brachial//neuritis, brachial plexus//neuropathies, shoulder girdle//neuropathies, shoulder-girdle//neuropathy, shoulder girdle//neuropathy, shoulder-girdle//parsonage aldren turner syndrome//parsonage turner syndrome//parsonage-aldren-turner syndrome//parsonage-turner syndrome//shoulder girdle neuropathies//shoulder girdle neuropathy//shoulder-girdle neuropathies//shoulder-girdle neuropathy//syndrome, parsonage-aldren-turner//syndrome, parsonage-turner//brachial nerve plexus neuritis//neuritis of brachial nerve plexus	SEPTIN9	SEPTIN9	https://raresource.nih.gov/literature/disease/0004228	0004228	162100	2901	C1510479			septin 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuralgic amyotrophy"	0	0	1065
Partington syndrome	intelectual disability-dystonic movements-ataxia-seizures syndrome//intellectual disability, x-linked, syndromic 1//intellectual disability, x-linked, with dystonic movements, ataxia, and seizures//mental retardation, x-linked 36//mental retardation, x-linked, syndromic 1//mental retardation, x-linked, with dystonic movements, ataxia, and seizures//mrx36//mrxs1//partington syndrome//prts//partington x-linked intellectual disability syndrome//partington x-linked intellectual disability syndrome; prts//partington x-linked mental retardation syndrome//partington x-linked mental retardation syndrome; prts//partington-mulley syndrome//x-linked russell-silver syndrome//x-linked intellectual disability - dystonia - dysarthria//x-linked intellectual disability-dystonia-dysarthria syndrome//intellectual disability, x-linked 36//intellectual disability-dystonic movements-ataxia-seizures syndrome	ARX	ARX	https://raresource.nih.gov/literature/disease/0004235	0004235	309510	94083				aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partington syndrome"	0	0	35
Oligoarticular juvenile idiopathic arthritis	oligoarticular jia//pauciarticular jia//pauciarticular chronic arthritis//pauciarticular juvenile idiopathic arthritis//pauciarticular juvenile rheumatoid arthritis (disorder)//pauciarticular onset juvenile chronic arthritis//oligoarticular jia with anti-nuclear antibodies//oligoarticular jia without anti-nuclear antibodies//oligoarticular juvenile idiopathic arthritis//oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies//oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies//pauciarticular chronic arthritis with anti-nuclear antibodies//pauciarticular chronic arthritis without anti-nuclear antibodies//pauciarticular juvenile rheumatoid arthritis//pauciarticular onset juvenile arthritis	PTPN22;PTPN2;STAT4;IL2RB;IL2RA;ANKRD55;CD247	PTPN22;PTPN2;STAT4;IL2RB;IL2RA;ANKRD55;CD247	https://raresource.nih.gov/literature/disease/0004261	0004261		85410	C2931171			protein tyrosine phosphatase non-receptor type 22;protein tyrosine phosphatase non-receptor type 2;signal transducer and activator of transcription 4;interleukin 2 receptor subunit beta;interleukin 2 receptor subunit alpha;ankyrin repeat domain 55;CD247 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oligoarticular juvenile idiopathic arthritis"	0	0	303
PEHO syndrome	infantile cerebellooptic atrophy//peho//peho (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome//peho-like syndrome//progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy//progressive encephalopathy - optic atrophy//progressive encephalopathy with edema//progressive encephalopathy with edema, hypsarrhythmia and optic atrophy//progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome//progressive encephalopathy-optic atrophy syndrome//hypsarrhythmia and optic atrophy//peho syndrome//peho syndrome; peho	ZNHIT3;KIF1A	ZNHIT3;KIF1A	https://raresource.nih.gov/literature/disease/0004264	0004264	260565	2836	C0796122	C536317		zinc finger HIT-type containing 3;kinesin family member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PEHO syndrome"	0	0	50
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	aimp1 leukodystrophy//hld3//leukodystrophy, hypomyelinating, 3//leukodystrophy, hypomyelinating 3//pelizaeus-merzbacher-like disease, autosomal recessive, 2//perinatal sudanophilic leukodystrophy//hypomyelinating leukodystrophy 3//hypomyelinating leukodystrophy type 3//leukodystrophy caused by mutation in aimp1//leukodystrophy, hypomyelinating, 3; hld3//leukodystrophy, hypomyelinating, type 3	AIMP1	AIMP1	https://raresource.nih.gov/literature/disease/0004266	0004266	260600	280293				aminoacyl tRNA synthetase complex interacting multifunctional protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"	0	0	8
Pendred syndrome	autosomal recessive sensorineural hearing impairment and goiter//deafness with goiter//gdth iib//goiter-deafness syndrome//genetic defect in thyroid hormonogenesis ii b//goiter - deafness//goiter-hearing loss syndrome//hypothyroidism, congenital, due to dyshormonogenesis, 2b//hypothyroidism with sensorineural deafness//pds//pendred syndrome; pds//pendred's syndrome//slc26a4-related pendred syndrome//tdh2b//thyroid dyshormonogenesis 2b//thyroid hormonogenesis, genetic defect in, 2b//thyroid hormone organification defect ii b//congenital hypothyroidism due to dyshormonogenesis 2b//genetic defect in thyroid hormonogenesis 2b	SLC26A4;FOXI1;KCNJ10	SLC26A4;FOXI1;KCNJ10	https://raresource.nih.gov/literature/disease/0004271	0004271	274600	705	C0271829	C536648		solute carrier family 26 member 4;forkhead box I1;potassium inwardly rectifying channel subfamily J member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pendred syndrome"	0	0	1662
Acroosteolysis-keloid-like lesions-premature aging syndrome	acroosteolysis, keloid-like lesions, premature aging syndrome//pentt//penttinen syndrome//penttinen type//penttinen-aula syndrome//premature aging syndrome, penttinen type//premature ageing syndrome penttinen type//premature aging syndrome//premature aging syndrome penttinen type//prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly//progeroid syndrome, penttinen type//acroosteolysis-keloid-like lesions-premature aging syndrome//premature aging syndrome, penttinen type; pentt//prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly	PDGFRB	PDGFRB	https://raresource.nih.gov/literature/disease/0004276	0004276	601812	363665	C1866182			platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acroosteolysis-keloid-like lesions-premature aging syndrome"	0	0	119
Phosphoenolpyruvate carboxykinase deficiency, cytosolic	pck1 deficiency, cytosolic//pckdc//pep carboxykinase deficiency//pepck 1 deficiency//pepck deficiency, cytosolic//pepck1 deficiency//pck1 deficiency//phosphoenolpyruvate carboxykinase deficiency//phosphoenolpyruvate carboxykinase-1 (pck1) deficiency//phosphoenolpyruvate carboxylase deficiency//phosphopyruvate carboxylase deficiency//cytosolic//pepck deficiency//phosphoenolpyruvate carboxykinase deficiency, cytosolic//phosphoenolpyruvate carboxykinase deficiency, cytosolic; pckdc	PCK1	PCK1	https://raresource.nih.gov/literature/disease/0004278	0004278			C0268194		E74.4	phosphoenolpyruvate carboxykinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoenolpyruvate carboxykinase deficiency, cytosolic"	0	0	15
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	pck2 deficiency//pckdm//pepck 2 deficiency//pepck2//pepck2 deficiency//phosphoenolpyruvate carboxykinase 2 deficiency//phosphoenolpyruvate carboxykinase deficiency, mitochondrial//phosphoenolpyruvate carboxykinase deficiency, mitochondrial; pckdm	PCK2	PCK2	https://raresource.nih.gov/literature/disease/0004279	0004279			C1849821			phosphoenolpyruvate carboxykinase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoenolpyruvate carboxykinase deficiency, mitochondrial"	0	0	4
Alopecia-intellectual disability syndrome 2	amr syndrome 2//apmr2//alopecia intellectual disability syndrome 2//alopecia mental retardation syndrome 2//alopecia with mild to moderate intellectual deficit//alopecia-intellectual disability syndrome 2//alopecia-intellectual disability syndrome 2; apmr2//alopecia-mental retardation syndrome 2//alopecia-mental retardation syndrome 2; apmr2	APMR2	APMR2	https://raresource.nih.gov/literature/disease/0004291	0004291			C1835852			Alopecia-intellectual disability syndrome 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alopecia-intellectual disability syndrome 2"	0	0	None
Phakomatosis pigmentokeratotica	organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies//phacomatosis pigmentokeratotica//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"	0	0	72
Dihydropteridine reductase deficiency	6,7-dihydropteridine reductase activity disease//atypical pku//atypical phenylketonuria//bh4-deficient hyperphenylalaninemia c//dhpr - dihydropteridine reductase deficiency//dhpr deficiency//dihydropteridine reductase deficiency//deficiency disease, dihydropteridine reductase//deficiency, dhpr//deficiency, dihydropteridine reductase//deficiency, qdpr//dihydropteridine reductase deficiency disease//hpabh4c//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency//hyperphenylalaninemia due to dihydropteridine reductase deficiency//hyperphenylalaninemia, bh-4-deficient, c//hyperphenylalaninemia, type iv//pku type 2//pku, atypical//phenylketonuria ii//phenylketonuria type 2//phenylketonuria, atypical//qdpr deficiency//quinoid dihydropteridine reductase deficiency//disorder of 6,7-dihydropteridine reductase activity//hyperphenylalaninemia, bh4-deficient c//hyperphenylalaninemia, bh4-deficient, c//hyperphenylalaninemia, bh4-deficient, c; hpabh4c//hyperphenylalaninemia, bh4-deficient, type c	QDPR	QDPR	https://raresource.nih.gov/literature/disease/0004319	0004319	261630	226	C2936906	C537896		quinoid dihydropteridine reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dihydropteridine reductase deficiency"	0	0	171
PGM1-CDG	cdg it//cdg syndrome type it//cdg-it//cdg1t//cdgit//congenital disorder of glycosylation type 1t//congenital disorder of glycosylation type it//congenital disorder of glycosylation, type it//glycogen storage disease xiv//gsd 14//gsd xiv//gsd type 14//gsd14//gsdxiv//glycogen storage disease due to phosphoglucomutase deficiency//pgm1 deficiency//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 deficiency type 1//phosphoglucomutase-1 deficiency//type 14 glycogenosis//congenital disorder of glycosylation 1t//congenital disorder of glycosylation, type it; cdg1t//glycogen storage disease 14	PGM1	PGM1	https://raresource.nih.gov/literature/disease/0004329	0004329	614921	319646	C2752015			phosphoglucomutase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PGM1-CDG"	0	0	70
PGM3-CDG	cid due to pgm3 deficiency//combined immunodeficiency due to pgm3 deficiency//imd23//immunodeficiency with hyper ige and cognitive impairment//immunodeficiency-vasculitis-myoclonus syndrome//ivms//immunodeficiency 23//pgm3-related congenital disorder of glycosylation//phosphoglucomutase 3 deficiency//phosphoglucomutase deficiency type 3//immunodeficiency 23; imd23//immunodeficiency type 23	PGM3	PGM3	https://raresource.nih.gov/literature/disease/0004331	0004331	615816	443811				phosphoglucomutase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PGM3-CDG"	0	0	35
Piebaldism	albinism, cutaneous//albinism, partial//congenital partial albinism (leukoderma) on face, trunk, or limbs//congenital partial albinism on face, trunk, or limbs//congenital partial leucoderma//cutaneous albinism//pbt//piebald trait//piebaldism//partial albinism//partial absent skin pigmentation//piebald trait, kit-related//piebald trait, snai2-related//piebald trait; pbt	SNAI2;KIT	SNAI2;KIT	https://raresource.nih.gov/literature/disease/0004344	0004344	172800	2884	C0080024	D016116		snail family transcriptional repressor 2;KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Piebaldism"	0	0	478
Isolated Pierre Robin syndrome	glossoptosis, micrognathia, and cleft palate//isolated pierre robin sequence//pierre robin sequence//prbns//pierre robin syndrome//pierre robin syndrome skeletal dysplasia polydactyly//pierre robin syndrome; prbns//pierre robin's sequence//pierre robins sequence//pierre-robin syndrome//robin sequence//robin syndrome, pierre//sequence, pierre robin//sequence, pierre robin's//sequence, robin//syndrome, pierre robin//syndrome, pierre-robin//isolated pierre robin syndrome	SOX9	SOX9	https://raresource.nih.gov/literature/disease/0004347	0004347	261800	718	C0031900			SRY-box transcription factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated Pierre Robin syndrome"	0	0	1467
Late-onset retinal degeneration	autosomal dominant late-onset retinal degeneration//lord//pigmentary retinopathy//retinal degeneration, late-onset, autosomal dominant//late-onset retinal degeneration//late-onset retinal degeneration; lord	C1QTNF5	C1QTNF5	https://raresource.nih.gov/literature/disease/0004357	0004357	605670	67042	C1854065			C1q and TNF related 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Late-onset retinal degeneration"	0	0	539
Severe combined immunodeficiency due to FOXN1 deficiency	alopecia and t-cell 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 t-cell immunodeficiency - congenital alopecia - nail dystrophy//severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome//severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome//t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant//t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant; tlind//t-cell immunodeficiency, congenital alopecia, and nail dystrophy//t-cell immunodeficiency, congenital alopecia and nail dystrophy//tidand//tlind//winged helix deficiency//alopecia immunodeficiency	FOXN1	FOXN1	https://raresource.nih.gov/literature/disease/0004358	0004358	601705	169095				forkhead box N1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to FOXN1 deficiency"	0	0	183
Pitt-Hopkins syndrome	encephalopathy, severe epileptic, with autonomic dysfunction//intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea//mental retardation, syndromal, with intermittent hyperventilation//mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea//pths//pths - pitt-hopkins syndrome//pitt hopkins syndrome//pitt-hopkins syndrome; pths//intellectual disability, syndromal, with intermittent hyperventilation	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"	0	0	189
Hypoplasminogenemia	congenital plasminogen deficiency//conjunctivitis lignosa//dysplasminogenemia//ligneous conjunctivitis//plasminogen deficiency, type ii//plasminogen deficiency, type i//plasminogen deficiency//plasminogen deficiency type 1//type 1 plasminogen deficiency//hypoplasminogenemia//plasminogen deficiency, type 1//plasminogen deficiency, type 2	PLG	PLG	https://raresource.nih.gov/literature/disease/0004380	0004380	217090	722	C0398621			plasminogen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoplasminogenemia"	0	0	385
Congenital plasminogen activator inhibitor type 1 deficiency	congenital pai-1 deficiency//hyperfibrinolysis due to pai1 deficiency//pai-1 deficiency//pai1 deficiency//plasminogen activator inhibitor 1 deficiency//plasminogen activator inhibitor type 1 deficiency//congenital plasminogen activator inhibitor type 1 deficiency//plasminogen activator inhibitor-1 deficiency	SERPINE1	SERPINE1	https://raresource.nih.gov/literature/disease/0004381	0004381	613329	465	C2750067			serpin family E member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital plasminogen activator inhibitor type 1 deficiency"	0	0	123
Platyspondylic dysplasia, Torrance type	lethal short-limbed platyspondylic dwarfism, torrance type//lethal short-limbed platyspondylic dwarfism torrance type//platyspondylic lethal skeletal dysplasia, luton type//plsd-t//plsd-tl//plsdl//plsdt//platyspondylic chondrodysplasia, torrance-luton type//platyspondylic skeletal dysplasia, torrance type//platyspondylic dysplasia//platyspondylic dysplasia, torrance-luton type//platyspondylic lethal skeletal dysplasia//platyspondylic lethal skeletal dysplasia torrance type//platyspondylic lethal skeletal dysplasia, torrance type//platyspondylic lethal skeletal dysplasia, torrance type; plsdt//thanatophoric dysplasia, luton variant//thanatophoric dysplasia, torrance variant//thanatophoric dysplasia torrance variant//torrance type//torrance-luton type//platyspondylic dysplasia, torrance type	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0004382	0004382	151210	85166	C1835437			collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Platyspondylic dysplasia, Torrance type"	0	0	13
Kindler epidermolysis bullosa	bullous acrokeratotic poikiloderma of kindler and weary//congenital bullous poikiloderma//hereditary acrokeratotic poikiloderma of weary//kindler syndrome; kndlrs//kndlrs//ks//kindler syndrome//kindler's syndrome//poikiloderma, congenital, with bullae, weary type//poikiloderma, hereditary acrokeratotic//poikiloderma of kindler//hereditary acrokeratotic poikiloderma of kindler-weary	FERMT1	FERMT1	https://raresource.nih.gov/literature/disease/0004391	0004391		2908	C0406557	C536321		FERM domain containing kindlin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kindler epidermolysis bullosa"	0	0	5596
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 vi//ofds 6//oral-facial-digital syndrome type vi//oral-facial-digital syndrome type 6//oral-facial-digital syndrome, type 6//orofaciodigital syndrome vi//orofaciodigital syndrome 6//polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation//polydactyly - cleft lip/palate - psychomotor retardation//polydactyly cleft lip palate psychomotor retardation//polydactyly, cleft lip-palate or lingual lump, and psychomotor retardation//polydactyly-cleft lip/palate-psychomotor retardation syndrome//varadi syndrome//varadi-papp syndrome//varadi papp syndrome//váradi syndrome//váradi-papp syndrome//y-shaped central metacarpal and cerebellar defect//orofaciodigital syndrome vi; ofd6//orofaciodigital syndrome type 6	OFD1;CPLANE1;KIAA0753;FAM149B1;KIF7;PDE6D;TOPORS;TCTN3;TMEM216	OFD1;CPLANE1;KIAA0753;FAM149B1;KIF7;PDE6D;TOPORS;TCTN3;TMEM216	https://raresource.nih.gov/literature/disease/0004412	0004412	615665	2754	C2745997			OFD1 centriole and centriolar satellite protein;ciliogenesis and planar polarity effector complex subunit 1;KIAA0753;family with sequence similarity 149 member B1;kinesin family member 7;phosphodiesterase 6D;TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase;tectonic family member 3;transmembrane protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 6"	0	0	45
Polydactyly of a biphalangeal thumb	fromont anomaly//polydactyly, preaxial//ppd1//polydactyly preaxial 1//polydactyly, preaxial i//preaxial polydactyly 1//preaxial polydactyly type 1//preaxial polydactyly type 1, bilateral//preaxial polydactyly type 1, unilateral//thenar hypoplasia//thumb polydactyly//polydactyly of a biphalangeal thumb//polydactyly of a biphalangeal thumb, bilateral//polydactyly of a biphalangeal thumb, unilateral//polydactyly, preaxial 1//polydactyly, preaxial type 1	GLI1	GLI1	https://raresource.nih.gov/literature/disease/0004417	0004417	174400	93339	C1395852			GLI family zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polydactyly of a biphalangeal thumb"	0	0	75
Catecholaminergic polymorphic ventricular tachycardia	bidirectional tachycardia induced by catecholamines//bidirectional tachycardia induced by catecholamine//bidirectional ventricular tachycardia induced by catecholamine//cpvt//cpvt1//cvpt1//catecholamine-induced polymorphic ventricular tachycardia//catecholaminergic polymorphic ventricular tachycardia by ecg finding//catecholaminergic polymorphic ventricular tachycardia by ekg finding//cpvt2//double tachycardia induced by catecholamines//familial polymorphic ventricular tachycardia//malignant paroxysmal ventricular tachycardia//multifocal ventricular premature beats//polymorphic catecholergic ventricular tachycardia//polymorphic ventricular tachycardia induced by catecholamines//ryr2-related catecholaminergic polymorphic ventricular tachycardia//stress-induced polymorphic ventricular tachycardia//syncopal paroxysmal tachycardia//syncopal tachyarythmia//ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy//ventricular tachycardia, stress-induced polymorphic//vtsip//ventricular tachycardia, catecholaminergic polymorphic, 1//ventricular tachycardia, catecholaminergic polymorphic, 2//ventricular tachycardia, familial//ventricular tachycardia, familial polymorphic//catecholaminergic polymorphic ventricular tachycardia//catecholaminergic polymorphic ventricular tachycardia 1//catecholaminergic polymorphic ventricular tachycardia type 1//ventricular tachycardia, catecholaminergic polymorphic//ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy; cpvt1	RYR2;TRDN;CALM1;CALM2;TECRL;CASQ2;CALM3	RYR2;TRDN;CALM1;CALM2;TECRL;CASQ2;CALM3	https://raresource.nih.gov/literature/disease/0004421	0004421	611938	3286	C1631597			ryanodine receptor 2;triadin;calmodulin 1;calmodulin 2;trans-2,3-enoyl-CoA reductase like;calsequestrin 2;calmodulin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Catecholaminergic polymorphic ventricular tachycardia"	0	0	1136
Syndactyly type 4	haas type syndactyly//haas type//lmbr1 non-syndromic syndactyly//polysyndactyly, haas type//polysyndactyly type haas//sd4//sdty4//non-syndromic syndactyly caused by mutation in lmbr1//syndactyly type 4//syndactyly, type 4//syndactyly, type iv//syndactyly, type iv; sdty4	SHH;LMBR1	SHH;LMBR1	https://raresource.nih.gov/literature/disease/0004434	0004434	186200	93405	C1861355			sonic hedgehog signaling molecule;limb development membrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly type 4"	0	0	11
Bartsocas-Papas syndrome	aslan multiple pterygium syndrome//autosomal recessive popliteal pterygium syndrome//bartsocas-papas syndrome 1//bps//bps1//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//popliteal pterygium syndrome lethal type//popliteal pterygium syndrome, bartsocas-papas type//pterygium popliteal lethal type	RIPK4	RIPK4	https://raresource.nih.gov/literature/disease/0004436	0004436	263650	1234	C1849718			receptor interacting serine/threonine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartsocas-Papas syndrome"	0	0	5502
Porokeratosis of Mibelli	mibelli porokeratosis//mibelli's disease//porok1//porokeratosis 1, multiple types//porokeratosis//porokeratosis, mibelli//porokeratosis of mibelli	MVK;PMVK	MVK;PMVK	https://raresource.nih.gov/literature/disease/0004438	0004438	175900	735	C0949506			mevalonate kinase;phosphomevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis of Mibelli"	0	0	654
Congenital erythropoietic porphyria	cep//congenital erythropoietic porphyria//congenital erythropoietic porphyrias//congenital porphyria//deficiency of uroporphyrinogen iii synthase//erythropoietic porphyria//erythropoietic porphyria, congenital//erythropoietic porphyrias//erythropoietic porphyrias, congenital//gunther disease//gunther's disease//gunthers disease//günther disease//porphyria, congenital erythropoietic//porphyria, erythropoietic, congenital//porphyrias, congenital erythropoietic//porphyrias, erythropoietic//uroporphyrinogen iii synthase deficiency//uros deficiency//uroporphyrinogen iii synthase, deficiency of//cutaneous porphyria//uroporphyrinogen 3 synthase deficiency	UROS;GATA1	UROS;GATA1	https://raresource.nih.gov/literature/disease/0004446	0004446	263700	79277				uroporphyrinogen III synthase;GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital erythropoietic porphyria"	0	0	845
Guttmacher syndrome	autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias//guttmacher syndrome//preaxial deficiency, postaxial polydactyly, and hypospadias//preaxial deficiency - postaxial polydactyly - hypospadias//preaxial deficiency, postaxial polydactyly and hypospadias//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"	0	0	2
Familial male-limited precocious puberty	fmpp//familial gonadotrophin-independent sexual precocity//familial male-limited precocious puberty//familial testotoxicosis//familial testotoxicosis (subtype)//familial gonadotropin-independent male-limited sexual precocity//gonadotrophin-independent precocious puberty//leydig cell adenoma, somatic, with male-limited precocious puberty//lhcgr peripheral precocious puberty//male-limited precocious puberties//male-limited precocious puberty//precocious pseudopuberty//precocious puberties, male-limited//precocious puberty, male limited//precocious puberty, male-limited//pubertas praecox//puberties, male-limited precocious//puberty, male-limited precocious//sexual precocity, familial, gonadotropin-independent//testotoxicosis, familial//testotoxicosis//peripheral precocious puberty caused by mutation in lhcgr	LHCGR	LHCGR	https://raresource.nih.gov/literature/disease/0004475	0004475	176410	3000	C1504412	C536961		luteinizing hormone/choriogonadotropin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial male-limited precocious puberty"	0	0	195
Congenital prekallikrein deficiency	fletcher factor deficiency//pkk deficiency//prekallikrein deficiency, congenital//congenital prekallikrein deficiency//hereditary prekallikrein deficiency//inherited prekallikrein deficiency//prekallikrein deficiency	KLKB1	KLKB1	https://raresource.nih.gov/literature/disease/0004477	0004477	612423	749	C0272339			kallikrein B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital prekallikrein deficiency"	0	0	94
Griscelli syndrome type 2	albinism, partial with immunodeficiency//griscelli syndrome with hemophagocytic syndrome//gs2//griscelli syndrome, type 2//griscelli disease type 2//griscelli syndrome, type 2; gs2//griscelli-pruni??ras syndrome type 2//griscelli-prunic)ras syndrome type 2//griscelli-prunieras syndrome type 2//griscelli-pruniéras syndrome type 2//griscelli-pruni��ras syndrome type 2//hypopigmentation - immunodeficiency with or without neurologic impairment//hypopigmentation-immunodeficiency with or without neurologic impairment syndrome//paid syndrome//partial albinism and immunodeficiency syndrome//partial albinism and immunodeficiency	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"	0	0	85
Primary ciliary dyskinesia	bronchiectasis, polynesian//cild1//ciliary dyskinesia, primary, 1, with or without situs inversus//ciliary dyskinesia//ciliary dyskinesia, primary//ciliary dyskinesia, primary, 1//ciliary dyskinesias//ciliary motility defect//ciliary motility disorder//ciliary motility disorders//ciliary dyskinesia primary//dextrocardia, bronchiectasis, and sinusitis//dnai1 primary ciliary dyskinesia//dextrocardia bronchiectasis and sinusitis//dextrocardia-bronchiectasis-sinusitis syndrome//disorder, ciliary motility//dyskinesia, ciliary//dyskinesia, primary ciliary//dysmotile cilia syndrome//ics//ics - immotile cilia syndrome//immotile cilia syndrome//immotile cilia syndromes//immotile cilia syndrome, kartagener type//kartagener syndrome//kartagener triad//kartagener's syndrome//kartagener's triad//kartageners syndrome//kartageners triad//pcd//polynesian bronchiectasis//polynesian bronchiectases//primary ciliary dyskinesia//primary ciliary dyskinesia and situs inversus//primary ciliary dyskinesia, kartagener type//siewert syndrome//syndrome, kartagener//syndrome, kartagener's//syndrome, siewert//bronchiectasis, chronic sinusitis and dextrocardia syndrome//ciliary dyskinesia, primary, 1; cild1//ciliary dyskinesia, primary, type 1//immotile ciliary syndrome//primary ciliary dyskinesia 1 with or without situs inversus//primary ciliary dyskinesia caused by mutation in dnai1//primary ciliary dyskinesia type 1	RSPH1;CFAP298;NME8;DNAAF11;STK36;CCNO;NEK10;DNAI2;HYDIN;ZMYND10;DNAAF2;RSPH3;RSPH9;DNAAF4;RSPH4A;DNAL1;TTC12;DRC1;GAS2L2;CCDC39;ODAD4;LRRC56;ODAD2;OFD1;DNAAF5;CCDC40;SPEF2;ODAD1;CFAP300;ODAD3;DNAAF6;DNAH1;DNAH11;DNAH5;DNAH9;DNAI1;CCDC65;DNAAF3;DNAAF1;DNAJB13;CCDC103;CFAP221;FOXJ1;MCIDAS;GAS8;RPGR;SPAG1	RSPH1;CFAP298;NME8;DNAAF11;STK36;CCNO;NEK10;DNAI2;HYDIN;ZMYND10;DNAAF2;RSPH3;RSPH9;DNAAF4;RSPH4A;DNAL1;TTC12;DRC1;GAS2L2;CCDC39;ODAD4;LRRC56;ODAD2;OFD1;DNAAF5;CCDC40;SPEF2;ODAD1;CFAP300;ODAD3;DNAAF6;DNAH1;DNAH11;DNAH5;DNAH9;DNAI1;CCDC65;DNAAF3;DNAAF1;DNAJB13;CCDC103;CFAP221;FOXJ1;MCIDAS;GAS8;RPGR;SPAG1	https://raresource.nih.gov/literature/disease/0004484	0004484	616726	244				radial spoke head component 1;cilia and flagella associated protein 298;NME/NM23 family member 8;dynein axonemal assembly factor 11;serine/threonine kinase 36;cyclin O;NIMA related kinase 10;dynein axonemal intermediate chain 2;HYDIN axonemal central pair apparatus protein;zinc finger MYND-type containing 10;dynein axonemal assembly factor 2;radial spoke head 3;radial spoke head component 9;dynein axonemal assembly factor 4;radial spoke head component 4A;dynein axonemal light chain 1;tetratricopeptide repeat domain 12;dynein regulatory complex subunit 1;growth arrest specific 2 like 2;coiled-coil domain containing 39;outer dynein arm docking complex subunit 4;leucine rich repeat containing 56;outer dynein arm docking complex subunit 2;OFD1 centriole and centriolar satellite protein;dynein axonemal assembly factor 5;coiled-coil domain containing 40;sperm flagellar 2;outer dynein arm docking complex subunit 1;cilia and flagella associated protein 300;outer dynein arm docking complex subunit 3;dynein axonemal assembly factor 6;dynein axonemal heavy chain 1;dynein axonemal heavy chain 11;dynein axonemal heavy chain 5;dynein axonemal heavy chain 9;dynein axonemal intermediate chain 1;coiled-coil domain containing 65;dynein axonemal assembly factor 3;dynein axonemal assembly factor 1;DnaJ heat shock protein family (Hsp40) member B13;coiled-coil domain containing 103;cilia and flagella associated protein 221;forkhead box J1;multiciliate differentiation and DNA synthesis associated cell cycle protein;growth arrest specific 8;retinitis pigmentosa GTPase regulator;sperm associated antigen 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary ciliary dyskinesia"	0	0	4465
Juvenile primary lateral sclerosis	jpls//juvenile pls//juvenile primary lateral sclerosis//pls juvenile//pls, juvenile//plsj//primary lateral sclerosis, juvenile//primary lateral sclerosis juvenile//primary lateral sclerosis, juvenile; plsj	ALS2;ERLIN2	ALS2;ERLIN2	https://raresource.nih.gov/literature/disease/0004485	0004485	606353	247604	C1853396	C536416		alsin Rho guanine nucleotide exchange factor ALS2;ER lipid raft associated 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile primary lateral sclerosis"	0	0	1892
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	intellectual disability, cataract, calcified pinna, myopathy syndrome//ossified ear cartilages with mental deficiency, muscle wasting, and bony changes//prims//primrose syndrome//intellectual disability-cataracts-calcified pinnae-myopathy syndrome//primrose syndrome; prims	ZBTB20	ZBTB20	https://raresource.nih.gov/literature/disease/0004488	0004488	259050	3042	C0796121			zinc finger and BTB domain containing 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"	0	0	3494
Progeroid syndrome, Petty type	fontaine progeroid syndrome//petty syndrome//petty-laxova-wiedemann syndrome	SLC25A24	SLC25A24	https://raresource.nih.gov/literature/disease/0004497	0004497	612289	2963	C2931653			solute carrier family 25 member 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progeroid syndrome, Petty type"	0	0	9
Deafness, x-linked 2	deafness//associated with a unique developmental abnormality of the ear//conductive//deafness 3//mixed//nance deafness//perilymphatic gusher-deafness syndrome//profound//sensorineural deafness//with or without a conductive component//with perilymphatic gusher//with stapes fixation	POU3F4	POU3F4	https://raresource.nih.gov/literature/disease/0004504	0004504			C1844678			POU class 3 homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, x-linked 2"	0	0	16238
Prolactinoma	adenoma, lactotroph//adenoma, prolactin-secreting, pituitary//adenomas, lactotroph//forbes-albright syndrome (formerly)//lactotroph adenoma//lactotroph adenomas//macroprolactinoma//macroprolactinomas//microprolactinoma//microprolactinomas//pituitary adenoma, prolactin-secreting//prl secreting pituitary adenoma//prl producing pituitary gland adenoma//prl-secreting pituitary adenoma//prl-secreting pituitary adenomas//prloma//prolactinoma, familial//pituitary adenoma, prl-secreting//pituitary adenoma, prolactin secreting//pituitary adenoma, prolactin-producing//pituitary adenomas, prl-secreting//pituitary adenomas, prolactin-producing//pituitary adenomas, prolactin-secreting//pituitary lactotrophic adenoma//pituitary prolactin cell adenoma//pituitary prolactinoma//prolactin producing pituitary adenoma//prolactin secreting pituitary adenoma//prolactin-producing pituitary adenoma//prolactin-producing pituitary adenomas//prolactin-producing pituitary gland adenoma//prolactin-secreting pituitary adenoma//prolactin-secreting pituitary adenomas//prolactinoma of pituitary gland//prolactinomas//familial prolactinoma//lactotrope adenoma//lactotroph cell adenoma//pituitary gland prolactinoma//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 gland 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 gland adenoma//prolactinoma//prolactinoma of pituitary//prolactinoma of the pituitary//prolactinoma of the pituitary gland	CDH23;AIP;MEN1	CDH23;AIP;MEN1	https://raresource.nih.gov/literature/disease/0004508	0004508		2965	C0033375	D015175		cadherin related 23;aryl hydrocarbon receptor interacting protein;menin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prolactinoma"	0	0	4260
Properdin deficiency	cfpd//complement factor properdin deficiency//pfd//properdin deficiency, type i//properdin deficiency, type ii//properdin deficiency, type iii//properdin p factor deficiency//properdin deficiency, x-linked//properdin deficiency, type 1//properdin deficiency, x-linked; cfpd//properdin deficiency, type 2//properdin deficiency, type 3	CFP	CFP	https://raresource.nih.gov/literature/disease/0004513	0004513	312060	2966	C0398762	C537241		complement factor properdin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Properdin deficiency"	0	0	5497
Familial prostate cancer	familial malignant neoplasm of prostate//hereditary prostate cancer//prostate cancer, hereditary, 1//prostate cancer, familial//prostate cancer, hereditary//familial prostate cancer//familial prostate carcinoma//hereditary prostate carcinoma	RNASEL;BRCA1;BRCA2;SRD5A2;HNF1B;EPHB2;HOXB13;RAD51D;CDH1;CHEK2;ELAC2;MSMB;NBN;MSR1;ATM	RNASEL;BRCA1;BRCA2;SRD5A2;HNF1B;EPHB2;HOXB13;RAD51D;CDH1;CHEK2;ELAC2;MSMB;NBN;MSR1;ATM	https://raresource.nih.gov/literature/disease/0004520	0004520	610997	1331	C2931456	C537243		ribonuclease L;BRCA1 DNA repair associated;BRCA2 DNA repair associated;steroid 5 alpha-reductase 2;HNF1 homeobox B;EPH receptor B2;homeobox B13;RAD51 paralog D;cadherin 1;checkpoint kinase 2;elaC ribonuclease Z 2;microseminoprotein beta;nibrin;macrophage scavenger receptor 1;ATM serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial prostate cancer"	0	0	420
Autosomal erythropoietic protoporphyria	deficiencies, ferrochelatase//deficiencies, heme synthetase//deficiency, ferrochelatase//deficiency, heme synthetase//epp//epp (erythropoietic protoporphyria porphyria)//epp - erythropoietic protoporphyria//epp1//erythrohepatic protoporphyria//erythropoietic protoporphyria//erythropoietic protoporphyrias//ferrochelatase deficiency//ferrochelatase deficiencies//heme synthetase deficiency//heme synthetase deficiencies//magnus syndrome//protoporphyria, erythropoietic//protoporphyria//protoporphyrias, erythropoietic//synthetase deficiencies, heme//synthetase deficiency, heme//xldpp//protoporphyria, erythropoietic, 1//protoporphyria, erythropoietic; epp	FECH	FECH	https://raresource.nih.gov/literature/disease/0004527	0004527	177000	79278	C0162568	D046351		ferrochelatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal erythropoietic protoporphyria"	0	0	1229
Corpus callosum agenesis-abnormal genitalia syndrome	acc with abnormal genitalia//acc-abnormal genitalia syndrome//agenesis of corpus callosum with abnormal genitalia//agenesis of corpus callosum and abnormal genitalia syndrome//corpus callosum, agenesis of, with abnormal genitalia//corpus callosum agenesis, abnormal genitalia syndrome//microcephaly, corpus callosum agenesis, abnormal genitalia syndrome//microcephaly-corpus callosum agenesis-abnormal genitalia syndrome//new x-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum//proud syndrome//proud levine carpenter syndrome//proud-levine-carpenter syndrome//corpus callosum agenesis-abnormal genitalia syndrome	ARX	ARX	https://raresource.nih.gov/literature/disease/0004528	0004528	300004	2508				aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corpus callosum agenesis-abnormal genitalia syndrome"	0	0	4
Bifunctional enzyme deficiency	17-beta-hydroxysteroid dehydrogenase iv deficiency//17-beta-hydroxysteroid dehydrogenase 4 deficiency//3-ketoacyl-coa thiolase deficiency//d-bifunctional enzyme deficiency//d-bifunctional protein deficiency//dbp deficiency//hsd17b4 deficiency//pbfe deficiency//peroxisomal bifunctional enzyme deficiency//peroxisomal thiolase deficiency//pseudo zellweger syndrome leukodystrophy//pseudo-zellweger syndrome//bifunctional enzyme deficiency//multifunctional enzyme deficiency//peroxisomal multifunctional enzyme (mfe2) deficiency//peroxisomal multifunctional enzyme deficiency	EHHADH;HSD17B4	EHHADH;HSD17B4	https://raresource.nih.gov/literature/disease/0004539	0004539	261515	300	C0342870	C536663		enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase;hydroxysteroid 17-beta dehydrogenase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bifunctional enzyme deficiency"	0	0	82
Pseudoachondroplasia	psach//pseudoachondroplasia//pseudoachondroplastic dysplasia//pseudoachondroplastic spondyloepiphyseal dysplasia syndrome//pseudoachondroplastic spondyloepiphyseal dysplasia//sed syndrome//spondyloepiphyseal dysplasia, pseudoachondroplastic//pseudoachondroplasia; psach	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[]=Pseudoachondroplasia"	0	0	1164
Peroxisomal acyl-CoA oxidase deficiency	acox1 deficiency//acyl-coa oxidase deficiency//acyl-coenzyme a oxidase deficiency//pseudoneonatal adrenoleukodystrophy//peroxisomal acyl-coa oxidase deficiency//peroxisomal acyl-coenzyme a oxidase//pseudo-nald//pseudo-neonatal adrenoleucodystrophy//pseudo-neonatal adrenoleukodystrophy//pseudoadrenoleukodystrophy//straight-chain acyl-coa oxidase deficiency	ACOX1	ACOX1	https://raresource.nih.gov/literature/disease/0004543	0004543	264470	2971	C0342871	C536662		acyl-CoA oxidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peroxisomal acyl-CoA oxidase deficiency"	0	0	42
Generalized pseudohypoaldosteronism type 1	autosomal recessive pha1//autosomal recessive pseudohypoaldosteronism type 1//generalized pha1//pha i, autosomal recessive//pha1b//pseudohypoaldosteronism type 1 autosomal recessive//pseudohypoaldosteronism type 1, recessive//autosomal recessive pha 1//generalized pseudohypoaldosteronism type 1//pseudohypoaldosteronism, type i, autosomal recessive//pseudohypoaldosteronism, type i, autosomal recessive; pha1b	SCNN1B;SCNN1A;SCNN1G	SCNN1B;SCNN1A;SCNN1G	https://raresource.nih.gov/literature/disease/0004552	0004552	264350	171876	C1449843			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[]=Generalized pseudohypoaldosteronism type 1"	0	0	13
Hereditary pulmonary alveolar proteinosis	congenital pap//congenital pulmonary alveolar proteinosis//pulmonary alveolar proteinosis, congenital//hereditary pulmonary alveolar proteinosis//inborn error of pulmonary surfactant metabolism//sufactant metabolism dysfunction, pulmonary	CSF2RA;CSF2RB	CSF2RA;CSF2RB	https://raresource.nih.gov/literature/disease/0004582	0004582	614370	264675	C2931035			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"	0	0	12543
Purine nucleoside phosphorylase deficiency	deficiency of purine-nucleoside phosphorylase//np - nucleoside phosphorylase deficiency//np deficiency//nucleoside phosphorylase deficiency//pnp - purine nucleoside phosphorylase deficiency//pnp deficiency//pnpase deficiency//purine-nucleoside phosphorylase deficiency//deficiency of inosine phosphorylase//purine nucleoside phosphorylase deficiency	PNP	PNP	https://raresource.nih.gov/literature/disease/0004606	0004606	613179	760	C0268125			purine nucleoside phosphorylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Purine nucleoside phosphorylase deficiency"	0	0	204
Pycnodysostosis	maroteaux-lamy pyknodysostosis syndrome//maroteaux-lamy syndrome ii//pknd//pycd//pyknodysostosis//pycnodysostoses//pyknodysostoses//stanesco's dysostosis syndrome//pycnodysostosis	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[]=Pycnodysostosis"	0	0	411
Pyle disease	bakwin-krida syndrome//edwin pyle disease//metaphyseal dysplasia, pyle type//metaphyseal dysplasia//metaphyseal dysplasia pyle type//metaphyseal dysplasia with little involvement of the cranial bones//pyl//pyle disease; pyl//pyle type//pyle's disease//pyle's syndrome//pyle-cohn syndrome//chondrodysplasia calcificans metaphysealis	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 disease"	0	0	213
Pyruvate dehydrogenase E1-alpha deficiency	ataxia with lactic acidosis i//ataxia, intermittent, with abnormal pyruvate metabolism//ataxia, intermittent, with pyruvate dehydrogenase deficiency//ataxia with lactic acidosis 1//ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency//lactic acidemia, thiamine-responsive//pdh deficiency//pdhad//pyruvate decarboxylase deficiency//pyruvate dehydrogenase complex deficiency//pyruvate dehydrogenase complex e1 component subunit alpha deficiency//pyruvate dehydrogenase e1-alpha deficiency; pdhad//pyruvate dehydrogenase e1-alpha deficiency	PDHA1;LONP1	PDHA1;LONP1	https://raresource.nih.gov/literature/disease/0004620	0004620	312170	79243	C1839413			pyruvate dehydrogenase E1 subunit alpha 1;lon peptidase 1, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyruvate dehydrogenase E1-alpha deficiency"	0	0	192
Oculofaciocardiodental syndrome	anop2 (formerly)//anop2, formerly//bcor-related lenz microphthalmia syndrome//cataract - microphthalmia - radiculomegaly - septal heart defect//cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome//cataracts, microphthalmia, radiculomegaly and septal heart defects//maa2 (formerly)//maa2, formerly//mcops2//marashi gorlin syndrome//microphthalmia cataracts radiculomegaly and septal heart defects//microphthalmia syndromic 2//microphthalmia, cataract, radiculomegaly and septal heart defect//microphthalmia, cataracts, radiculomegaly, and septal heart defects//ofcd syndrome//oculo facio cardio dental syndrome//oculo-facio-cardio-dental syndrome//syndromic microphthalmia 2//syndromic microphthalmia type 2//microphthalmia, syndromic 2//microphthalmia, syndromic type 2//oculofaciocardiodental syndrome	BCOR	BCOR	https://raresource.nih.gov/literature/disease/0004628	0004628	300166	2712	C1846265	C537735		BCL6 corepressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculofaciocardiodental syndrome"	0	0	70
Leukocyte adhesion deficiency type II	cdg 2c//cdg iic//cdg syndrome type iic//cdg-iic//cdg2c//cdgiic//congenital disorder of glycosylation, type iic//congenital disorder of glycosylation type 2c//congenital disorder of glycosylation type iic//congenital disorder of glycosylation, type 2c//lad - leukocyte adhesion deficiency type 2//lad-ii//lad2//leukocyte adhesion deficiency, type ii//leukocyte adhesion deficiency - type 2//leukocyte adhesion deficiency type 2//leukocyte adhesion deficiency, type 2//leukocyte adhesion molecule deficiency - type 2//rambam-hasharon syndrome//rhs//rambam hasharon syndrome//slc35c1-cdg//slc35c1-cdg (cdg-iic)//congenital disorder of glycosylation, type iic; cdg2c//lad-type ii//leukocyte adhesion deficiency type ii//sialyl-lewis x defect	SLC35C1	SLC35C1	https://raresource.nih.gov/literature/disease/0004634	0004634	266265	99843	C0398739			solute carrier family 35 member C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukocyte adhesion deficiency type II"	0	0	261
RAPADILINO syndrome	absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate//rapadilino - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence//recql4-related disorders//radial and patellar aplasia//radial and patellar hypoplasia//rapadilino syndrome	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"	0	0	19
Infantile Refsum disease	disease, infantile refsum//disease, infantile refsum's//ird//infantile form of phytanic acid storage disease//infantile phytanic acid storage disease//infantile refsum disease//infantile refsum's disease//infantile refsums disease//mild pbd-zsd//mild peroxisome biogenesis disorder-zellweger spectrum disorder//pbd1b//refsum disease, infantile form//refsum disease, infantile//refsum's disease, infantile//refsums disease, infantile//adrenoleukodystrophy, autosomal neonatal//peroxisome biogenesis disorder (nald/ird)//peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)//peroxisome biogenesis disorder 1b//peroxisome biogenesis disorder type 1b	PEX5;PEX2;PEX26;PEX11B;PEX14;PEX13;PEX1;PEX16;PEX3;PEX6;PEX19;PEX10;PEX12	PEX5;PEX2;PEX26;PEX11B;PEX14;PEX13;PEX1;PEX16;PEX3;PEX6;PEX19;PEX10;PEX12	https://raresource.nih.gov/literature/disease/0004648	0004648	614877	772	C0282527	D052919		peroxisomal biogenesis factor 5;peroxisomal biogenesis factor 2;peroxisomal biogenesis factor 26;peroxisomal biogenesis factor 11 beta;peroxisomal biogenesis factor 14;peroxisomal biogenesis factor 13;peroxisomal biogenesis factor 1;peroxisomal biogenesis factor 16;peroxisomal biogenesis factor 3;peroxisomal biogenesis factor 6;peroxisomal biogenesis factor 19;peroxisomal biogenesis factor 10;peroxisomal biogenesis factor 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile Refsum disease"	0	0	941
NPHP3-related Meckel-like syndrome	dandy-walker cyst with renal-hepatic-pancreatic dysplasia//goldston syndrome//mks7//meckel like syndrome//meckel syndrome 7//meckel syndrome type 7//meckel syndrome, type 7//meckel syndrome, type 7; mks7//meckel-gruber syndrome, type 7//meckel-like syndrome//meckel-like syndrome type 1//nphp3 (nephrocystin 3) related meckel-like syndrome//nphp3-related meckel syndrome//nephrocystin 3-related meckel-like syndrome//renal-hepatic-pancreatic dysplasia with dandy-walker cyst//renal hepatic pancreatic dysplasia dandy walker cyst//renal, hepatic, pancreatic dysplasia, dandy-walker cysts syndrome//renal-hepatic-pancreatic dysplasia - dandy-walker cysts//renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome	NPHP3	NPHP3	https://raresource.nih.gov/literature/disease/0004665	0004665	267010	3032	C2673885			nephrocystin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NPHP3-related Meckel-like syndrome"	0	0	16
Autosomal recessive distal renal tubular acidosis	ar drta//ar drta (autosomal recessive distal renal tubular acidosis) with deafness//ar drta with hearing loss//ar drta wth deafness//autosomal recessive distal rta//autosomal recessive distal renal tubular acidosis with deafness//autosomal recessive distal renal tubular acidosis with hearing loss//drta2//distal renal tubular acidosis with progressive sensorineural deafness//renal tubular acidosis with progressive nerve deafness//renal tubular acidosis, autosomal recessive, with progressive nerve deafness//renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss//rta with progressive nerve deafness//renal tubular acidosis progressive nerve deafness//renal tubular acidosis type 1b//renal tubular acidosis with deafness//renal tubular acidosis, distal, with progressive nerve deafness//distal renal tubular acidosis co-occurrent with sensorineural deafness	FOXI1;ATP6V1B1;ATP6V0A4	FOXI1;ATP6V1B1;ATP6V0A4	https://raresource.nih.gov/literature/disease/0004666	0004666	602722	402041	C1864498			forkhead box I1;ATPase H+ transporting V1 subunit B1;ATPase H+ transporting V0 subunit a4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive distal renal tubular acidosis"	0	0	33
Distal renal tubular acidosis	classic rta//familial distal primary acidosis//renal tubular acidosis type 1//drta//distal renal tubular acidosis//distal renal tubular acidosis (disease)//renal tubular acidosis, distal	WDR72	WDR72	https://raresource.nih.gov/literature/disease/0004667	0004667	611590	18	C1704380			WD repeat domain 72	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal renal tubular acidosis"	0	0	999
Autosomal dominant distal renal tubular acidosis	ad drta//autosomal dominant slc4a1-associated distal renal tubular acidosis//drta1//renal tubular acidosis i//rta, classic type//rta, distal type, autosomal dominant//rta, gradient type//renal tubular acidosis 1//autosomal dominant distal renal tubular acidosis//autosomal dominant distal renal tubular acidosis (disease)//distal renal tubular acidosis (disease), autosomal dominant//renal tubular acidosis, distal, autosomal dominant	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0004668	0004668	179800	93608	C2931885	C538565		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"	0	0	337
X-linked retinoschisis	juvenile retinoschisis//rs//rs1//retinoschisis x-linked//retinoschisis juvenile x chromosome-linked//x-linked juvenile retinoschisis//x-linked juvenile retinoschisis 1//x-linked juvenile retinoschisis type 1//xjr//xlrs//xlrs1//juvenile x-linked retinoschisis//retinoschisis 1, x-linked, juvenile//retinoschisis 1, x-linked, juvenile; rs1//retinoschisis, x-linked	RS1	RS1	https://raresource.nih.gov/literature/disease/0004690	0004690	312700	792	C0271091			retinoschisin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked retinoschisis"	0	0	2502
Atypical Rett syndrome	atypical rtt//rett syndrome, atypical//rett like syndrome//rett syndrome variant//atypical rett syndrome	MECP2;GABBR2;SMC1A;CDKL5;NTNG1	MECP2;GABBR2;SMC1A;CDKL5;NTNG1	https://raresource.nih.gov/literature/disease/0004694	0004694	300672	3095	C2748910			methyl-CpG binding protein 2;gamma-aminobutyric acid type B receptor subunit 2;structural maintenance of chromosomes 1A;cyclin dependent kinase like 5;netrin G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical Rett syndrome"	0	0	65
Revesz syndrome	dkca5//dyskeratosis congenita, autosomal dominant 5//dyskeratosis congenita, autosomal dominant, 5//dyskeratosis congenita with bilateral exudative retinopathy//exudative retinopathy with bone marrow failure//retinopathy, anemia, central nervous system anomalies syndrome//retinopathy-anemia-central nervous system anomalies syndrome//revesz debuse syndrome//revesz syndrome//revesz-debuse syndrome	TINF2	TINF2	https://raresource.nih.gov/literature/disease/0004695	0004695	268130	3088	C1327916			TERF1 interacting nuclear factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Revesz syndrome"	0	0	12058
Reynolds syndrome	primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia//primary biliary cirrhosis and systemic scleroderma//primary biliary cirrhosis co-occurrent with systemic scleroderma	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"	0	0	21
Alveolar rhabdomyosarcoma	arms//alveolar rhabdomyosarcoma//alveolar rhabdomyosarcomas//alveolar rhabdomyosarcoma (disease)//rhabdomyosarcoma 2//rhabdomyosarcoma, alveolar//rms2//rmsa//rhabdomyosarcoma alveolar//rhabdomyosarcomas, alveolar//alveolar childhood rhabdomyosarcoma//alveolar rhabdomyosarcoma (morphologic abnormality)//monomorphous round cell rhabdomyosarcoma//pediatric alveolar rhabdomyosarcoma//rhabdomyosarcoma 2; rms2//rhabdomyosarcoma type 2	TP53;FOXO1;PAX7;PAX3;NF1	TP53;FOXO1;PAX7;PAX3;NF1	https://raresource.nih.gov/literature/disease/0004701	0004701	268220	99756	C0206655	D018232		tumor protein p53;forkhead box O1;paired box 7;paired box 3;neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alveolar rhabdomyosarcoma"	0	0	1695
Embryonal rhabdomyosarcoma	botryoid rhabdomyosarcoma (type of erms)//erms//embryonal rhabdomyosarcoma//embryonal rhabdomyosarcomas//rhabdomyosarcoma 1//rhabdomyosarcoma chromosomal region//rms1//rmscr//rmse1//rhabdomyosarcoma embryonal//rhabdomyosarcoma, embryonal//rhabdomyosarcomas, embryonal//spindle cell rhabdomyosarcomas (type of erms)//embryonal rhabdomyosarcoma (disease)//rhabdomyosarcoma, embryonal, 1//rhabdomyosarcoma, embryonal, 1; rmse1//rhabdomyosarcoma, embryonal, type 1	TP53;NF1;SLC22A18;DICER1	TP53;NF1;SLC22A18;DICER1	https://raresource.nih.gov/literature/disease/0004702	0004702	268210	99757	C0206656	D018233		tumor protein p53;neurofibromin 1;solute carrier family 22 member 18;dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Embryonal rhabdomyosarcoma"	0	0	1472
Richieri Costa-Pereira syndrome	rcps//richieri-costa-pereira syndrome//robin sequence with cleft mandible and limb anomalies//richieri costa pereira syndrome//richieri-costa and pereira form of acrofacial dysostosis//robin sequence with cleft mandible and limb anomalies syndrome//short stature - pierre robin sequence - cleft mandible - hand anomalies clubfoot//short stature - pierre robin syndrome - cleft mandible - hand anomalies clubfoot//short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome//short stature, robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot//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"	0	0	32
Rigid spine syndrome	desmin-related myopathy with mallory bodies//desmin-related myopathies 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, congenital, merosin positive with early spine rigidity//myopathy, sepn1-related//rsmd1//rss//rigid spine muscular dystrophy 1//rigid spine congenital muscular dystrophy//rigid spine muscular dystrophy-1//rigid spine syndrome	ACTA1;SELENON	ACTA1;SELENON	https://raresource.nih.gov/literature/disease/0004723	0004723	602771	97244		C535683		actin alpha 1, skeletal muscle;selenoprotein N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rigid spine syndrome"	0	0	325
Autosomal dominant deafness-onychodystrophy syndrome	autosomal dominant hearing loss-onychodystrophy syndrome//ddod//ddod syndrome//deafness and onychodystrophy, dominant form//familial ectodermal dysplasia with sensori-neural deafness and other anomalies//robinson miller bensimon syndrome//robinson-miller-bensimon syndrome//autosomal dominant deafness - onychodystrophy syndrome//autosomal dominant deafness-onychodystrophy syndrome//deafness, congenital, and onychodystrophy, autosomal dominant//deafness, congenital, and onychodystrophy, autosomal dominant; ddod//deafness, congenital, with onychodystrophy, autosomal dominant//deafness, congenital, with onychodystrophy, autosomal dominant; ddod//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"	0	0	15
Roussy-Lévy syndrome	areflexic dystasia, hereditary//areflexic dystasias, hereditary//charcot-marie-tooth disease (variant)//charcot-marie-tooth-roussy-levy disease//dystasia, hereditary areflexic//dystasias, hereditary areflexic//hmsn i//hereditary areflexic dystasias//hereditary motor sensory neuropathy i//hereditary areflexic dystasia//hereditary areflexic dystasia, roussy-lévy type//hereditary ataxia-muscular atrophy syndrome//roussy-levy syndrome//roussy levy disease//roussy levy hereditary areflexic dystasia//roussy levy syndrome//roussy-levy disease//roussy-lévy type//roussy-levy hereditary areflexic dystasia//syndrome, roussy-levy//hereditary areflexic dystasia, roussy-levy type	PMP22;MPZ	PMP22;MPZ	https://raresource.nih.gov/literature/disease/0004741	0004741	180800	3115	C0205713			peripheral myelin protein 22;myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Roussy-Lévy syndrome"	0	0	117
Schwannomatosis	congenital cutaneous neurilemmomatosis//neurilemmomatosis, congenital cutaneous//nf3//neurilemmomatosis//neurilemmomatosis congenital cutaneous//neurinomatosis//neurofibromatosis 3s//neurofibromatosis type 3//neurofibromatosis type 3s//schwannomatosis 1; swnts1//swnts1//schwannomatosis 1//type 3, neurofibromatosis//neurinoma//schwannomatosis	NF2;LZTR1;SMARCB1;COQ6	NF2;LZTR1;SMARCB1;COQ6	https://raresource.nih.gov/literature/disease/0004768	0004768	615670	93921	C1335929	C536641		NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor;leucine zipper like transcription regulator 1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1;coenzyme Q6, monooxygenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schwannomatosis"	0	0	1086
Congenital muscular dystrophy, Ullrich type	lgmdr22//late onset scleroatonic familial myopathy//late onset scleroatonic familial myopathy (subtype)//muscular dystrophy, limb-girdle, autosomal recessive 22//muscular dystrophy, scleroatonic//scleroatonic ullrich disease//scleroatonic muscular dystrophy//ucmd//ucmd1//ullrich congenital muscular dystrophy//ullrich congenital muscular dystrophy 1, autosomal recessive//ullrich congenital muscular dystrophy 1, digenic, col6a1/col6a2//ullrich disease//ullrich scleroatonic muscular dystrophy//ullrich congenital muscular dystrophy 1//ullrich congenital muscular dystrophy 1; ucmd1//ullrich congenital muscular dystrophy type 1//congenital muscular dystrophy, ullrich type	COL6A2;COL6A1;COL6A3;COL12A1	COL6A2;COL6A1;COL6A3;COL12A1	https://raresource.nih.gov/literature/disease/0004769	0004769	616470	75840	C0410179			collagen type VI alpha 2 chain;collagen type VI alpha 1 chain;collagen type VI alpha 3 chain;collagen type XII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy, Ullrich type"	0	0	200
Sclerosteosis	cortical hyperostosis - syndactyly//cortical hyperostosis with syndactyly//cortical hyperostosis-syndactyly syndrome//sclerosteosis 1//sost//sclerosteosis	LRP4;SOST	LRP4;SOST	https://raresource.nih.gov/literature/disease/0004771	0004771	614305	3152	C0265301	C537525		LDL receptor related protein 4;sclerostin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sclerosteosis"	0	0	152
Succinyl-CoA:3-oxoacid CoA transferase deficiency	3-oxoacid coa transferase deficiency//ketoacidosis due to scot deficiency//oxct1 deficiency//scot deficiency//scotd//succinyl-coa:3-ketoacid coa-transferase deficiency//succinyl-coa:acetoacetate transferase deficiency//succinyl-coa acetoacetate transferase deficiency//succinyl-coa:3-ketoacid coa transferase deficiency//succinyl-coa 3-oxoacid transferase deficiency//succinyl-coa:3-oxoacid coa transferase deficiency//succinyl-coa:3-oxoacid-coa transferase deficiency//succinyl-coa:3-oxoacid-coa transferase deficiency; scotd	OXCT1	OXCT1	https://raresource.nih.gov/literature/disease/0004774	0004774	245050	832	C0342792			3-oxoacid CoA-transferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Succinyl-CoA:3-oxoacid CoA transferase deficiency"	0	0	34
Aarskog-Scott syndrome	aarskog syndrome, x-linked//aas//aarskog disease//aarskog scott syndrome//aarskog syndrome//aarskog-like syndrome//aarskog-scott syndrome//aarskog-scott syndrome, x-linked//faciodigitogenital syndrome//faciogenital dysplasia//faciogenital dysplasia with attention deficit-hyperactivity disorder//fgdy//facio-digito-genital dysplasia//faciodigitogenital syndrome, recessive//kuwait type faciodigitogenital syndrome//mental retardation, x-linked, syndromic 16//mrxs16//scott aarskog syndrome	FGD1	FGD1	https://raresource.nih.gov/literature/disease/0004775	0004775	305400	915	C0175701			FYVE, RhoGEF and PH domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aarskog-Scott syndrome"	0	0	929
Scott syndrome	bdplt7//bleeding abnormality due to deficiency of platelet binding of factor x//bleeding disorder, platelet-type, 7//prothrombin consumption deficiency//prothrombin consumption inhibitor, familial//prothrombin conversion defect, familial//platelet factor x receptor deficiency//scts//scott syndrome (disorder)//scott syndrome; scts//bleeding abnormality due to deficiency of platelet binding of factor 10//bleeding abnormality due to deficiency of platelet biding of factor x//familial prothrombin consumption inhibitor//familial prothrombin conversion defect//platelet-type bleeding disorder 7	ANO6	ANO6	https://raresource.nih.gov/literature/disease/0004777	0004777	262890	806	C0796149			anoctamin 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Scott syndrome"	0	0	222
Testicular seminomatous germ cell tumor	seminoma of testis//seminoma testis//seminomatous germ cell tumor of testis//testicular seminoma//seminoma of the testis//testicular seminoma pure//testicular seminoma (disease)//testicular seminomatous germ cell tumor//testis seminoma	KIT	KIT	https://raresource.nih.gov/literature/disease/0004792	0004792	273300	842	C0036631			KIT proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Testicular seminomatous germ cell tumor"	0	0	983
Short chain acyl-CoA dehydrogenase deficiency	acads deficiency//acadsd//acyl-coa dehydrogenase, short-chain, deficiency of//deficiency of butyryl-coa dehydrogenase//lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency//scad//scad deficiency//scadd//scadh deficiency//short-chain acyl-coa dehydrogenase deficiency//short-chain acyl-coenzyme a dehydrogenase deficiency//acyl-coa dehydrogenase, short-chain deficiency//acyl-coa dehydrogenase, short-chain, deficiency of; acadsd//short chain acyl-coa 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		C537596		acyl-CoA dehydrogenase short chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short chain acyl-CoA dehydrogenase deficiency"	0	0	1373
Short rib-polydactyly syndrome, Beemer-Langer type	beemer-langer syndrome//beemer langer syndrome//beemer-langer type short rib polydactyly syndrome//short rib syndrome, beemer type//short rib-polydactyly syndrome, type iv//srps iv//srps type 4//srps, type 4//srps4//srtd12//short rib polydactyly syndrome, beemer-langer type//short rib polydactyly syndrome beemer-langer type//short rib-polydactyly syndrome beemer type//short rib-polydactyly syndrome type 4//short rib-polydactyly syndrome type iv//short rib-polydactyly syndrome, beemer type//short rib-polydactyly syndrome, type 4//srps 4//short rib-polydactyly syndrome, beemer-langer type//short-rib thoracic dysplasia 12//short-rib thoracic dysplasia 12; srtd12//type iv short rib polydactyly syndrome	IFT80;IFT122	IFT80;IFT122	https://raresource.nih.gov/literature/disease/0004832	0004832	269860	93268	C0432198			intraflagellar transport 80;intraflagellar transport 122	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short rib-polydactyly syndrome, Beemer-Langer type"	0	0	11
Short rib-polydactyly syndrome, Majewski type	majewski syndrome//polydactyly with neonatal chondrodystrophy type 2//srps type 2//short rib-polydactyly syndrome majewski type//short rib-polydactyly syndrome type 2//short rib-polydactyly syndrome type ii//short-rib thoracic dysplasia 6 with or without polydactyly//short rib-polydactyly syndrome, majewski type	DYNC2H1;NEK1;TRAF3IP1	DYNC2H1;NEK1;TRAF3IP1	https://raresource.nih.gov/literature/disease/0004833	0004833	263520	93269	C0024507			dynein cytoplasmic 2 heavy chain 1;NIMA related kinase 1;TRAF3 interacting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short rib-polydactyly syndrome, Majewski type"	0	0	30
Short rib-polydactyly syndrome, Saldino-Noonan type	polydactyly with neonatal chondrodystrophy type 1//srps type 1//saldino-noonan syndrome//short rib-polydactyly syndrome saldino-noonan type//short rib-polydactyly syndrome type 1//type i short rib polydactyly syndrome	DYNC2H1	DYNC2H1	https://raresource.nih.gov/literature/disease/0004834	0004834	613091	93270	C0036069			dynein cytoplasmic 2 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short rib-polydactyly syndrome, Saldino-Noonan type"	0	0	13
Short rib-polydactyly syndrome, Verma-Naumoff type	naumoff-type short rib polydactyly syndrome//polydactyly with neonatal chondrodystrophy, type iii//polydactyly with neonatal chondrodystrophy type iii//polydactyly with neonatal chondrodystrophy, type 3//srps type 3//srps, type iii//srps3//short rib-polydactyly syndrome, type iii//short rib polydactyly syndrome verma naumoff type//short rib-polydactyly syndrome type 3//short rib-polydactyly syndrome type 3//short rib-polydactyly syndrome type iii//type iii short rib polydactyly syndrome//verma naumoff syndrome//verma-naumoff short rib polydactyly syndrome//verma-naumoff syndrome//short rib-polydactyly syndrome, verma-naumoff type	IFT80;DYNC2I2;WDR35;DYNC2H1;DYNC2I1	IFT80;DYNC2I2;WDR35;DYNC2H1;DYNC2I1	https://raresource.nih.gov/literature/disease/0004835	0004835	615633	93271	C0432197	C537602		intraflagellar transport 80;dynein 2 intermediate chain 2;WD repeat domain 35;dynein cytoplasmic 2 heavy chain 1;dynein 2 intermediate chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short rib-polydactyly syndrome, Verma-Naumoff type"	0	0	26
Shprintzen-Goldberg syndrome	catch 22//craniosynostosis with arachnodactyly and abdominal hernias//cayler cardiofacial syndrome//conotruncal anomaly face syndrome//craniosynostosis and marfanoid disorder, type 1//digeorge sequence//digeorge syndrome//marfanoid craniosynostosis syndrome//marfanoid disorder with craniosynostosis, type i//marfanoid disorder with craniosynostosis type 1//marfanoid disorder with craniosynostosis, type 1//marfanoid-craniosynostosis syndrome//microdeletion 22q11.2//sgs//sedlackova syndrome//shprintzen golberg craniosynostosis//shprintzen golberg craniosynostosis syndrome//shprintzen goldberg craniosynostosis syndrome//shprintzen syndrome//shprintzen-goldberg craniosynostosis syndrome//shprintzen-goldberg syndrome//shprintzen-goldberg craniosynostosis syndrome; sgs//shprintzen-goldberg marfanoid syndrome//takao syndrome//velocardiofacial syndrome	SKI;FBN1	SKI;FBN1	https://raresource.nih.gov/literature/disease/0004861	0004861	182212	2462	C1321551	C537328		SKI proto-oncogene;fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shprintzen-Goldberg syndrome"	0	0	2018
Shwachman-Diamond syndrome	congenital lipomatosis of pancreas//lipomatosis of pancreas, congenital//pancreatic insufficiency and bone marrow dysfunction//sds//schwachman-diamond syndrome//schwachmann-diamond syndrome//shwachman syndrome//shwachman-bodian syndrome//shwachman-bodian-diamond syndrome//shwachman-diamond syndrome; sds//shwachman-diamond type metaphyseal dysplasia	DNAJC21;SRP54;SBDS;EFL1	DNAJC21;SRP54;SBDS;EFL1	https://raresource.nih.gov/literature/disease/0004863	0004863	617941	811	C0272170			DnaJ heat shock protein family (Hsp40) member C21;signal recognition particle 54;SBDS ribosome maturation factor;elongation factor like GTPase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Shwachman-Diamond syndrome"	0	0	1084
Sialuria	french type//sialuria, french type//sialuria	GNE	GNE	https://raresource.nih.gov/literature/disease/0004865	0004865	269921	3166	C0342853	C537332		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sialuria"	0	0	58
Solitary median maxillary central incisor	fused incisors//hpe, minor form//hpe-l//holoprosencc)phalie, minor form//holoprosencephaly, minor form//holoprosencephaly-like//holoprosencéphalie, minor form//incisors, fused//incisors//incisors fused//microform hpe//only one upper front tooth//single central maxillary incisor//single upper central incisor//smmci//smmci syndrome//smmci solitary median maxillary central incisor//solitary median maxillary central incisor syndrome//single central incisor syndrome//single central 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//solitary midline maxillary central incisor//apertura pyriformis with holoprosencephaly//fused//microform holoprosencephaly//solitary median maxillary central incisor//solitary median maxillary central incisor; smmci	SHH	SHH	https://raresource.nih.gov/literature/disease/0004877	0004877			C1840235			sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Solitary median maxillary central incisor"	0	0	284
Progressive familial heart block, type ii	heart block progressive familial type 2//pfhb2//pfhbii//progressive familial heart block type 2//progressive familial heart block, type ii//progressive familial heart block, type ii; pfhb2	PFHB2	PFHB2	https://raresource.nih.gov/literature/disease/0004879	0004879		871	C1841658			Progressive familial heart block, type II	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial heart block, type ii"	0	0	2
Multiple endocrine neoplasia type 2A	mea 2a//mea ii//mea iia//mea type 2a//mea type ii//men (multiple endocrine neoplasia) type 2a//men 2//men 2a//men 2a syndrome//men ii//men iia//men-2a syndrome//men-2a syndromes//men2a//men2a - multiple endocrine neoplasia type 2a//multiple endocrine neoplasia, type iia//multiple endocrine neoplasia type 2//multiple endocrine neoplasms type 2a//neoplasia, multiple endocrine type 2a//neoplasms, multiple endocrine type 2a//pheochromocytoma and amyloid-producing medullary thyroid carcinoma//ptc syndrome//pheochromocytoma and amyloid producing medullary thyroid carcinoma//sipple syndrome//thyroid carcinoma, familial medullary//men type 2a//men type ii//multiple endocrine adenomatosis type 2a//multiple endocrine adenomatosis type ii//multiple endocrine adenomatosis, type ii//multiple endocrine neoplasia ii//multiple endocrine neoplasia type 2a//multiple endocrine neoplasia type ii//multiple endocrine neoplasia, type 2a//multiple endocrine neoplasia, type ii//multiple endocrine neoplasia, type iia; men2a	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"	0	0	1887
Situs inversus totalis	complete situs inversus//complete situs inversus viscerum//complete transposition//htx5//inversus, situs//laterality sequence//situs inversus viscerum//siv//situs inversus//complete transposition (morphologic abnormality)//heterotaxy, visceral, 5, autosomal//heterotaxy, visceral, 5, autosomal; htx5//situs ambiguus//situs inversus totalis//situs inversus totalis (disease)	NODAL;PKD1L1;NME7;ANKS3;MMP21;DNAH9;CITED2;CFAP53;CFAP52	NODAL;PKD1L1;NME7;ANKS3;MMP21;DNAH9;CITED2;CFAP53;CFAP52	https://raresource.nih.gov/literature/disease/0004883	0004883		101063	C0037221			nodal growth differentiation factor;polycystin 1 like 1, transient receptor potential channel interacting;NME/NM23 family member 7;ankyrin repeat and sterile alpha motif domain containing 3;matrix metallopeptidase 21;dynein axonemal heavy chain 9;Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2;cilia and flagella associated protein 53;cilia and flagella associated protein 52	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Situs inversus totalis"	0	0	3938
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	h-smd//hypomyelination-spondyloepimetaphyseal dysplasia syndrome//hypomyelination-spondylometaphyseal dysplasia syndrome//leukoencephalopathy with metaphyseal chondrodysplasia//lkmcd//leukoencephalopathy-semd syndrome//leukoencephalopathy-metaphyseal chondrodysplasia syndrome//leukoencephalopathy-spondylometaphyseal dysplasia syndrome//semd x-linked with mental deterioration//semd, x-linked, with mental deterioration//semdhl//spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy//spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration//skeletal dysplasia coarse facies mental retardation//spondyloepimetaphyseal dysplasia x-linked with mental deterioration//spondyloepimetaphyseal dysplasia, bieganski type//x-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (semdhl)//leukoencephalopathy with metaphyseal chondrodysplasia; lkmcd	AIFM1	AIFM1	https://raresource.nih.gov/literature/disease/0004891	0004891	300232	83629	C1970840			apoptosis inducing factor mitochondria associated 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"	0	0	1275
Autosomal recessive spastic ataxia of Charlevoix-Saguenay	arsacs//arsacs - autosomal recessive spastic ataxia of charlevoix-saguenay//autosomal recessive spastic ataxia of charlevoix-saguenay//autosomal recessive spastic ataxia type 6//charlevoix-saguenay spastic ataxia//sacs//spastic ataxia 6, autosomal recessive//spax6//spastic ataxia 6//spastic ataxia, charlevoix-saguenay type//spastic ataxia charlevoix-saguenay type//spastic ataxia of charlevoix-saguenay//spastic ataxia, charlevoix-saguenay type; sacs	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[]=Autosomal recessive spastic ataxia of Charlevoix-Saguenay"	0	0	288
Infantile-onset ascending hereditary spastic paralysis	autosomal recessive juvenile amyotrophic lateral sclerosis//hereditary spastic paralysis, infantile onset ascending//iahsp//iahsp - infantile onset ascending hereditary spastic paralysis//infantile ascending hereditary spastic paralysis//infantile-onset ascending hereditary spastic paralysis//spastic paralysis, infantile onset ascending//spastic paralysis, infantile-onset ascending//spastic paralysis, infantile-onset ascending; iahsp	ALS2	ALS2	https://raresource.nih.gov/literature/disease/0004914	0004914	607225	293168	C2931441			alsin Rho guanine nucleotide exchange factor ALS2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset ascending hereditary spastic paralysis"	0	0	5765
Autosomal recessive spastic paraplegia type 11	nakamura-osame syndrome//spg11//spastic paraplegia-intellectual disability-thin corpus callosum syndrome	SPG11	SPG11	https://raresource.nih.gov/literature/disease/0004919	0004919	604360	2822	C1858479	C537483		SPG11 vesicle trafficking associated, spatacsin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 11"	0	0	18
Autosomal recessive spastic paraplegia type 18	erlin2 autosomal recessive complex spastic paraplegia//idmdc//intellectual disability, motor dysfunction, and joint contractures//spastic paraplegia 18, autosomal recessive//spg18//spastic paraplegia 18//autosomal recessive complex spastic paraplegia caused by mutation in erlin2//autosomal recessive spastic paraplegia 18//autosomal recessive spastic paraplegia type 18//hereditary spastic paraplegia 18//hereditary spastic paraplegia type 18//intellectual disability, motor dysfunction and joint contractures//spastic paraplegia 18, autosomal recessive; spg18	ERLIN2	ERLIN2	https://raresource.nih.gov/literature/disease/0004922	0004922	611225	209951	C2749936			ER lipid raft associated 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 18"	0	0	3
Spastic paraplegia type 2	plp1 hereditary spastic paraplegia//plp1-related disorders//spastic paraplegia 2, x-linked//spg2//sppx2//spastic gait type 2//spastic paraparesis type 2//spastic paraplegia 2//x-linked spastic paraplegia 2//x-linked spastic paraplegia type 2//hereditary spastic paraplegia 2//hereditary spastic paraplegia caused by mutation in plp1//hereditary spastic paraplegia type 2//spastic paraplegia 2, x-linked; spg2//spastic paraplegia type 2	PLP1	PLP1	https://raresource.nih.gov/literature/disease/0004923	0004923	312920	99015	C1839264	C536857		proteolipid protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia type 2"	0	0	69
Autosomal recessive spastic paraplegia type 39	nte related motor neuron disorder//nte-related motor neuron disorder//ntemnd//pnpla6 hereditary spastic paraplegia//spastic paraplegia 39, autosomal recessive//spg39//spastic paraplegia 39//spastic paraplegia due to nte (neuropathy target esterase) mutation//spastic paraplegia due to nte mutation//spastic paraplegia due to neuropathy target esterase mutation//autosomal recessive spastic paraplegia 39//autosomal recessive spastic paraplegia type 39//hereditary spastic paraplegia 39//hereditary spastic paraplegia caused by mutation in pnpla6//hereditary spastic paraplegia type 39//spastic paraplegia 39, autosomal recessive; spg39	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0004924	0004924	612020	139480	C2677586			patatin like phospholipase domain containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 39"	0	0	4
Autosomal dominant spastic paraplegia type 4	autosomal dominant spastic paraplegia 4//autosomal dominant, spastic paraplegia 4//familial spastic paraplegia, autosomal dominant, 2//fsp2//familial spastic paraplegia autosomal dominant 2//spast hereditary spastic paraplegia//spg4//spastic paraplegia 4//autosomal dominant spastic paraplegia type 4//hereditary spastic paraplegia 4//hereditary spastic paraplegia caused by mutation in spast//hereditary spastic paraplegia type 4//spastic paraplegia 4, autosomal dominant//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[]=Autosomal dominant spastic paraplegia type 4"	0	0	65
Autosomal recessive spastic paraplegia type 5A	autosomal recessive spastic paraplegia//cyp7b1 pure or complex autosomal recessive spastic paraplegia//spastic paraplegia 5a, autosomal recessive//spg5a//spastic paraplegia 5a//spastic paraplegia type 5a//autosomal recessive spastic paraplegia 5a//autosomal recessive spastic paraplegia type 5a//hereditary spastic paraplegia 5a//hereditary spastic paraplegia type 5a//pure or complex autosomal recessive spastic paraplegia caused by mutation in cyp7b1//spastic paraplegia 5a, autosomal recessive; spg5a//spastic paraplegia type 5b, recessive	CYP7B1	CYP7B1	https://raresource.nih.gov/literature/disease/0004926	0004926	270800	100986	C2931356	C536871		cytochrome P450 family 7 subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 5A"	0	0	676
Spastic paraplegia type 7	hereditary spastic paraplegia, paraplegin type//hereditary spastic paraplegia paraplegin type//spg7//spg7 hereditary spastic paraplegia//spastic paraplegia 7//spastic paraplegia 7, autosomal recessive//autosomal recessive spastic paraplegia 7//hereditary spastic paraplegia 7//hereditary spastic paraplegia caused by mutation in spg7//hereditary spastic paraplegia type 7//spastic paraplegia 7, autosomal recessive; spg7//spastic paraplegia type 7	SPG7	SPG7	https://raresource.nih.gov/literature/disease/0004927	0004927	607259	99013	C3711370			SPG7 matrix AAA peptidase subunit, paraplegin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia type 7"	0	0	95
Autosomal dominant spastic paraplegia type 6	autosomal dominant familial spastic paraplegia type 3//familial spastic paraplegia, autosomal dominant, 3//fsp3//familial spastic paraplegia autosomal dominant 3//familial spastic paraplegia, autosomal dominant 3//nipa1 hereditary spastic paraplegia//spastic paraplegia 6, autosomal dominant//spg6//spastic paraplegia 6//autosomal dominant spastic paraplegia 6//autosomal dominant spastic paraplegia type 6//hereditary spastic paraplegia 6//hereditary spastic paraplegia caused by mutation in nipa1//hereditary spastic paraplegia type 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[]=Autosomal dominant spastic paraplegia type 6"	0	0	9
Weill-Marchesani syndrome	brachydactyly-spherophakia syndrome//brachymorphy with spherophakia syndrome//congenital mesodermal dysmorphodystrophies//congenital mesodermal dysmorphodystrophy//dysmorphodystrophies, congenital mesodermal//dysmorphodystrophy, congenital mesodermal//gemss//gemss syndrome//glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome//marchesani syndrome//marchesani weill syndrome//marchesani's syndrome//marchesani-weill syndrome//marchesani-weill syndromes//mesodermal dysmorphodystrophies, congenital//mesodermal dysmorphodystrophy, congenital//mesodermal dysmorphodystrophy congenital//spherophakia - brachymorphia//spherophakia brachymorphia syndrome//spherophakia brachymorphia syndromes//spherophakia-brachymorphia syndrome//syndrome, spherophakia brachymorphia//syndromes, spherophakia brachymorphia//wm syndrome//wms//weill marchesani syndrome//weill marchesani syndrome, autosomal dominant//weill marchesani syndrome, autosomal recessive//weill-marchesani syndrome, autosomal dominant//weill-marchesani syndrome, autosomal recessive//congenital mesodermal dystrophy	LTBP2;FBN1;ADAMTS10	LTBP2;FBN1;ADAMTS10	https://raresource.nih.gov/literature/disease/0004936	0004936	608328	3449	C0265313	D056846		latent transforming growth factor beta binding protein 2;fibrillin 1;ADAM metallopeptidase with thrombospondin type 1 motif 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weill-Marchesani syndrome"	0	0	294
Proximal spinal muscular atrophy type 2	dubowitz disease//intermediate spinal muscular atrophy//muscular atrophy, spinal, infantile chronic form//muscular atrophy, spinal, intermediate type//sma ii//sma type 2//sma type ii//sma-ii//sma2//sma 2//spinal muscular atrophy type 2//spinal muscular atrophy type ii//chronic infantile spinal muscular atrophy//chronic spinal muscular atrophy//proximal spinal muscular atrophy type 2//spinal muscular atrophy 2//spinal muscular atrophy, type 2//spinal muscular atrophy, type ii//spinal muscular atrophy, type ii; sma2	NAIP;SMN1;SMN2	NAIP;SMN1;SMN2	https://raresource.nih.gov/literature/disease/0004945	0004945	253550	83418	C2931358			NLR family apoptosis inhibitory protein;survival of motor neuron 1, telomeric;survival of motor neuron 2, centromeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal spinal muscular atrophy type 2"	0	0	287
Spinal muscular atrophy with congenital bone fractures 1	sma1 with congenital bone fractures//smabf1//spinal muscular atrophy, type i, with congenital bone fractures//spinal muscular atrophy//spinal muscular atrophy type 1 with congenital bone fractures//trip4 prenatal-onset spinal muscular atrophy with congenital bone fractures//prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in trip4//spinal muscular atrophy with congenital bone fractures 1//spinal muscular atrophy with congenital bone fractures 1; smabf1//spinal muscular atrophy with congenital bone fractures type 1//type i//with congenital bone fractures	TRIP4	TRIP4	https://raresource.nih.gov/literature/disease/0004947	0004947			C4225177			thyroid hormone receptor interactor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy with congenital bone fractures 1"	0	0	6897
Autosomal recessive cerebellar ataxia-movement disorder syndrome	sca24//sca24, formerly//scar4//scasi//spinocerebellar ataxia 24//spinocerebellar ataxia 24, formerly//spinocerebellar ataxia with saccadic intrusions//spinocerebellar ataxia 24 (formerly)//spinocerebellar ataxia autosomal recessive 4//autosomal recessive cerebellar ataxia-saccadic intrusion syndrome//spinocerebellar ataxia, autosomal recessive 4//spinocerebellar ataxia, autosomal recessive 4; scar4	VPS13D;VPS41	VPS13D;VPS41	https://raresource.nih.gov/literature/disease/0004952	0004952	607317	95434	C1846492			vacuolar protein sorting 13 homolog D;VPS41 subunit of HOPS complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive cerebellar ataxia-movement disorder syndrome"	0	0	367
Spinocerebellar ataxia type 5	ataxia 5, spinocerebellar//ataxia 5s, spinocerebellar//sca5//spinocerebellar ataxia 5s//spinocerebellar ataxia-5//spinocerebellar ataxia 5//type 5 spinocerebellar ataxia//spinocerebellar ataxia 5; sca5//spinocerebellar ataxia type 5	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"	0	0	50
Spinocerebellar ataxia type 7	adca type 2//adca, type ii//atxn7 autosomal dominant cerebellar ataxia type ii//autosomal dominant cerebellar ataxia, type ii//adca, type 2//ataxia 7, spinocerebellar//ataxia 7s, spinocerebellar//ataxia with pigmentary retinopathy//atrophy iii, olivopontocerebellar//autosomal dominant cerebellar ataxia type 2//cerebellar syndrome - pigmentary maculopathy//cerebellar syndrome pigmentary maculopathy//cerebellar syndrome-pigmentary maculopathy syndrome//olivopontocerebellar atrophy iii//opca 3//opca iii//opca with macular degeneration and external ophthalmoplegia//opca with retinal degeneration//opca3//olivopontocerebellar atrophy iiis//olivopontocerebellar atrophy 3//sca7//spinocerebellar ataxia 7s//spinocerebellar ataxia-7//spinocerebellar ataxia 7//type 7 spinocerebellar ataxia//autosomal dominant cerebellar ataxia type ii caused by mutation in atxn7//autosomal dominant cerebellar ataxia, type 2//spinocerebellar ataxia 7; sca7//spinocerebellar ataxia type 7	ATXN7	ATXN7	https://raresource.nih.gov/literature/disease/0004955	0004955	164500	94147	C0752125			ataxin 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 7"	0	0	269
Spinocerebellar ataxia type 8	sca8//sca8 spinocerebellar ataxia 8//spinocerebellar ataxia 8//spinocerebellar ataxia 8; sca8//spinocerebellar ataxia type 8	ATXN8OS;ATXN8	ATXN8OS;ATXN8	https://raresource.nih.gov/literature/disease/0004956	0004956	608768	98760	C1837454	C537307		ATXN8 opposite strand lncRNA;ataxin 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 8"	0	0	87
SPONASTRIME dysplasia	semdsp//short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation//sponastrime dysplasia//spondylar and nasal alterations with striated metaphyses//short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation//sponastrime type//spondylar and nasal alterations-striated metaphyses syndrome//spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia//spondyloepimetaphyseal dysplasia//spondyloepimetaphyseal dysplasia sponastrime type//spondyloepimetaphyseal dysplasia, sponastrime type//spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia	TONSL	TONSL	https://raresource.nih.gov/literature/disease/0004970	0004970	271510	93357	C1300260			tonsoku like, DNA repair protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SPONASTRIME dysplasia"	0	0	135
Spondylocarpotarsal synostosis	congenital scoliosis with unilateral unsegmented bar//congenital synspondylism//scoliosis, congenital, with unilateral unsegmented bar//sct//sct syndrome//spondylocarpotarsal syndrome//synspondylism, congenital//scoliosis, congenital with unilateral unsegmented bar//spondylocarpotarsal synostosis syndrome//synspondylism//synspondylism congenital//vertebral fusion with carpal coalition//spondylocarpotarsal synostosis//spondylocarpotarsal synostosis syndrome; sct	FLNB;MYH3	FLNB;MYH3	https://raresource.nih.gov/literature/disease/0004974	0004974	272460	3275	C1848934			filamin B;myosin heavy chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylocarpotarsal synostosis"	0	0	1035
Spondyloenchondrodysplasia	combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia//roifman immunoskeletal syndrome//roifman-costa syndrome//roifman-melamed syndrome//sem//spencd//spencdi//spondyloenchondrodysplasia with or without immune dysregulation//spondyloenchondrodysplasia with immune dysregulation//spondyloenchondromatosis//spondylometaphyseal dysplasia with enchondromatous changes//spondyloenchondrodysplasia//spondylometaphyseal dysplasia with combined immunodeficiency	ACP5	ACP5	https://raresource.nih.gov/literature/disease/0004978	0004978	271550	1855	C0432222	C535782		acid phosphatase 5, tartrate resistant	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloenchondrodysplasia"	0	0	113
X-linked spondyloepimetaphyseal dysplasia	semd x-linked//semd, x-linked//semdx//spondylo-epimetaphyseal dysplasia//spondyloepimetaphyseal dysplasia x-linked//spondyloepimetaphyseal dysplasia, x-linked//spondyloepimetaphyseal dysplasia, x-linked; semdx	BGN	BGN	https://raresource.nih.gov/literature/disease/0004979	0004979	300106	93349	C1848097			biglycan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked spondyloepimetaphyseal dysplasia"	0	0	10
Spondyloepimetaphyseal dysplasia, Shohat type	semd//semd shohat type//semd, shohat type//semdsh//shohat type//spondyloepimetaphyseal dysplasia shohat type//spondyloepimetaphyseal dysplasia, shohat type//spondyloepimetaphyseal dysplasia, shohat type; semdsh	DDRGK1	DDRGK1	https://raresource.nih.gov/literature/disease/0004980	0004980	602557	93352	C1865185			DDRGK domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, Shohat type"	0	0	92
Spondyloepimetaphyseal dysplasia with joint laxity	b3galt6 spondyloepimetaphyseal dysplasia with joint laxity//beighton type//semd-jl//semdjl//semdjl1//spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures//spondyloepimetaphyseal dysplasia joint laxity//spondyloepimetaphyseal dysplasia with joint laxity type 1//spondyloepimetaphyseal dysplasia with joint laxity, beighton type//spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; semdjl1//spondyloepimetaphyseal dysplasia with joint laxity//spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in b3galt6	B3GALT6;EXOC6B	B3GALT6;EXOC6B	https://raresource.nih.gov/literature/disease/0004982	0004982	271640	93359	C0432243			beta-1,3-galactosyltransferase 6;exocyst complex component 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia with joint laxity"	0	0	24
Schimke immuno-osseous dysplasia	immunoosseous dysplasia, schimke type//immunoosseous dysplasia schimke type//siod//schimke immunoosseous dysplasia; siod//schimke immuno-osseous dysplasia//schimke immunoosseous dysplasia//schimke syndrome//spondyloepiphyseal dysplasia - nephrotic syndrome//spondyloepiphyseal dysplasia nephrotic syndrome//spondyloepiphyseal dysplasia-nephrotic syndrome	SMARCAL1	SMARCAL1	https://raresource.nih.gov/literature/disease/0004984	0004984	242900	1830	C0877024	C536629		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Schimke immuno-osseous dysplasia"	0	0	139
Spondyloepiphyseal dysplasia tarda, x-linked	sed//sed tarda, x-linked//sedt//spondyloepiphyseal dysplasia, late//sed tarda//spondyloepiphyseal dysplasia tarda x-linked//x linked spondyloepiphyseal dysplasia tarda//x-linked spondyloepiphyseal dysplasia//late//spondyloepiphyseal dysplasia//spondyloepiphyseal dysplasia tarda, x-linked//spondyloepiphyseal dysplasia tarda, x-linked; sedt//x-linked	TRAPPC2	TRAPPC2	https://raresource.nih.gov/literature/disease/0004985	0004985			C3541456			trafficking protein particle complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia tarda, x-linked"	0	0	3608
Spondyloepiphyseal dysplasia congenita	congenital spondyloepiphyseal dysplasia//late spondyloepiphyseal dysplasia//sed - spondyloepiphyseal dysplasia//sed congenita//sedc//sedc - spondyloepiphyseal dysplasia congenita//spondyloepiphyseal dysplasia, congenital type//sed, congenital type//spondyloepiphyseal dysplasia congenita//spondyloepiphyseal dysplasia congenita group//spondyloepiphyseal dysplasia, congenita//spranger-wiedemann disease//spondyloepiphyseal dysplasia congenita; sedc//spondyloepiphyseal dysplasia tarda, x-linked; sedt	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"	0	0	189
Spondylometaphyseal dysplasia, 'corner fracture' type	smdcf//spondylometaphyseal dysplasia, sutcliffe type//spondylometaphyseal dysplasia, corner fracture type//spondylometaphyseal dysplasia//spondylometaphyseal dysplasia - sutcliffe type//spondylometaphyseal dysplasia sutcliffe type//spondylometaphyseal dysplasia corner fracture type//sutcliffe smd//sutcliffe type//sutcliffe type of spondylometaphyseal dysplasia//spondylometaphyseal dysplasia, 'corner fracture' type//spondylometaphyseal dysplasia, corner fracture type; smdcf	FN1;COL2A1	FN1;COL2A1	https://raresource.nih.gov/literature/disease/0004991	0004991	184255	93315	C0432221	C535793		fibronectin 1;collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia, 'corner fracture' type"	0	0	110
Spondylometaphyseal dysplasia, Sedaghatian type	lethal metaphyseal dysplasia//metaphyseal chondrodysplasia, congenital lethal//sedaghatian chondrodysplasia//smds//spondylometaphyseal dysplasia sedaghatian type//spondylometaphyseal dysplasia, sedaghatian type//spondylometaphyseal dysplasia, sedaghatian type; smds	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"	0	0	128
Spondyloperipheral dysplasia-short ulna syndrome	familial spondyloepiphyseal dysplasia//spondyloperipheral dysplasia with short ulna//spondyloperipheral dysplasia//spondyloperipheral dysplasia 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-short ulna syndrome"	0	0	13
Familial spontaneous pneumothorax	psp//primary spontaneous pneumothorax//spontaneous pneumothorax//spontaneous pneumothorax, primary//familial spontaneous pneumothorax//pneumothorax, primary spontaneous	FLCN	FLCN	https://raresource.nih.gov/literature/disease/0004997	0004997	173600	2903				folliculin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial spontaneous pneumothorax"	0	0	6122
Sebocystomatosis	cyst, multiple sebaceous//cysts, multiple sebaceous//disseminated sebocystomatosis//hereditary epidermal polycystic disease//multiple sebaceous cyst//multiple sebaceous cysts//multiplex steatocystomas//multiplex steatocystoma//sebaceous cysts, multiple//sebaceous cyst, multiple//steatocystoma multiplices//steatocystoma multiplex//steatocystoma, multiplex//steatocystomas, multiplex//sebocystomatosis	KRT17	KRT17	https://raresource.nih.gov/literature/disease/0005003	0005003	184500	841	C0259771			keratin 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sebocystomatosis"	0	0	228
Stiff skin syndrome	ssks//stiff skin syndrome; ssks//stiff skin syndrome	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0005025	0005025	228020	2833	C1861456			fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stiff skin syndrome"	0	0	65
Alpha delta granule deficiency	acquired storage pool disease//alpha dense granule deficiency//combined alpha-delta platelet storage pool deficiency//deficiencies, storage pool//deficiency, platelet storage pool//deficiency, storage pool//dense body defect//dense body defect (disorder)//familial platelet storage pool disease//platelet storage pool deficiencies//platelet storage pool deficiency//platelet storage pool disease//platelet dense granule deficiency//platelet dense granule deficiency (disorder)//platelet storage pool defect//platelet storage pool diseases//storage pool deficiencies//storage pool deficiency//storage pool deficiency, platelet//storage pool platelet disease//alpha delta granule deficiency	GFI1B	GFI1B	https://raresource.nih.gov/literature/disease/0005034	0005034	185050	734				growth factor independent 1B transcriptional repressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha delta granule deficiency"	0	0	4588
Autosomal dominant spastic paraplegia type 3	atl1 hereditary spastic paraplegia//familial spastic paraplegia, autosomal dominant, 1//fsp1//fsp1 familial spastic paraplegia 1//spastic paraplegia 3, autosomal dominant//spg3//spg3a//spg3a spastic paraplegia 3a//strumpell disease//spastic paraplegia 3//spastic paraplegia 3a//spastic paraplegia type 3a//strümpell disease//autosomal dominant familial spastic paraplegia 1//autosomal dominant spastic paraplegia 3//autosomal dominant spastic paraplegia type 3//hereditary spastic paraplegia 3a//hereditary spastic paraplegia caused by mutation in atl1//hereditary spastic paraplegia type 3a//spastic paraplegia 3, autosomal dominant; spg3a	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[]=Autosomal dominant spastic paraplegia type 3"	0	0	21
Stüve-Wiedemann syndrome	neonatal schwartz-jampel syndrome//neonatal schwartz-jampel syndrome type 2//schwartz-jampel syndrome, neonatal//schwartz-jampel syndrome, type 2//sjs2//stuve-wiedemann/schwartz-jampel type 2 syndrome//stuve-wiedemann syndrome//stws//sws//schwartz jampel syndrome neonatal//schwartz jampel type 2 syndrome//schwartz-jampel syndrome neonatal//schwartz-jampel syndrome type 2//stuve-wiedemann-schwartz-jampel type 2 syndrome//stüve-wiedemann dysplasia//stüve-wiedemann/schwartz-jampel type 2 syndrome	LIFR	LIFR	https://raresource.nih.gov/literature/disease/0005045	0005045	601559	3206	C0796176	C537502		LIF receptor subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stüve-Wiedemann syndrome"	0	0	524
Isolated succinate-CoQ reductase deficiency	complex 2 mitochondrial respiratory chain deficiency//isolated mitochondrial respiratory chain complex ii deficiency//isolated succinate dehydrogenase deficiency//isolated succinate dehydrogenase deficiency//isolated succinate-coenzyme q reductase deficiency//isolated succinate-ubiquinone reductase deficiency//mc2dn1//mitochondrial complex ii deficiency//mitochondrial respiratory chain complex ii deficiency//succinate coq reductase deficiency//succinate dehydrogenase deficiency//isolated succinate-coq reductase deficiency//mitochondrial complex 2 deficiency//mitochondrial complex ii deficiency, nuclear type 1	SDHB;SDHA;SDHAF1;SDHD	SDHB;SDHA;SDHAF1;SDHD	https://raresource.nih.gov/literature/disease/0005053	0005053	252011	3208	C1855008			succinate dehydrogenase complex iron sulfur subunit B;succinate dehydrogenase complex flavoprotein subunit A;succinate dehydrogenase complex assembly factor 1;succinate dehydrogenase complex subunit D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated succinate-CoQ reductase deficiency"	0	0	50
Multiple sulfatase deficiency	austin type//austin type juvenile sulfatidosis//juvenile sulfatidoses//juvenile sulfatidosis//juvenile sulfatidosis austin type//juvenile sulfatidosis, austin type//msd//mucosulfatidosis//multiple sulfatase deficiencies//multiple sulfatase deficiency//multiple sulfatase deficiency disease//multiple sulphatase deficiency disease//sulfatidosis, juvenile, austin type//sulfatidoses, juvenile//sulfatidosis juvenile, austin type//sulfatidosis, juvenile//multiple sulfatase deficiency; msd	SUMF1	SUMF1	https://raresource.nih.gov/literature/disease/0005061	0005061	272200	585	C1720864			sulfatase modifying factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple sulfatase deficiency"	0	0	1314
Isolated sulfite oxidase deficiency	isod//sulfocysteinuria//sulfite oxidase deficiency//isolated sulfite oxidase deficiency//sulfite oxidase deficiency, isolated//sulfite oxidase deficiency, isolated; isod	SUOX	SUOX	https://raresource.nih.gov/literature/disease/0005062	0005062	272300	99731	C0268624			sulfite oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated sulfite oxidase deficiency"	0	0	1012
46,XY complete gonadal dysgenesis	46 xx gonadal dysgenesis//46 xy gonadal dysgenesis//46, xx with streak gonads//46, xy cgd//46, xy gonadal dysgenesis//46, xy gonadal sex reversal//46, xy complete gonadal dysgenesis//46, xy pure gonadal dysgenesis//46, xy with streak gonads//46,xx gonadal dysgenesis//46,xx ovarian dysgenesis//46,xx complete gonadal dysgenesis//46,xx pure gonadal dysgenesis//46,xy cgd//46,xy complete gonadal dysgenesis//46,xy gonadal dysgenesis, complete, sry-related//46,xy sex reversal, sry-related//46,xy sex reversal//46,xy true hermaphroditism, sry-related//46,xy gonadal dysgenesis//46,xy pure gonadal dysgenesis//46,xy sex reversal 1//46,xy sex reversal 1; srxy1//46,xy sex reversal type 1//complete gonadal dysgenesis, 46, xy//fsh-ro//follicular stimulating hormone-resistant ovaries//gonadal dysgenesis, xx type//gonadal dysgenesis, 46, xx//gonadal dysgenesis, 46, xy//gonadal dysgenesis, 46,xx//gonadal dysgenesis, 46,xy//gonadal dysgenesis, xy female type//gonadal dysgenesis, male//hypergonadotropic ovarian dysgenesis//odg1//ovarian dysgenesis, hypergonadotropic, autosomal recessive//ovarian dysgenesis, hypergonadotropic, with normal karyotype//ovarian failure, hypergonadotropic//ovarian dysgenesis with normal chromosomes//pure gonadal dysgenesis 46,xy//pure gonadal dysgenesis, 46, xx//pure gonadal dysgenesis, 46, xy//pure gonadal dysgenesis, 46,xx//pure gonadal dysgenesis//pure gonadal dysgenesis 46,xx//sex-reversing locus on x, formerly//srvx, formerly//srxy1//sex reversal, gonadal, 46, xy//swyer syndrome//syndrome, swyer//tdfx, formerly//testis-determining factor, x-chromosomal, formerly//xx gonadal dysgenesis//xx female gonadal dysgenesis//xx-gd//xxgd//xy pure gonadal dysgenesis//gonadal dysgenesis, 20 type//ovarian dysgenesis//ovarian dysgenesis 1//ovarian dysgenesis 1; odg1//sex-reversing locus on x//testis-determining factor, x-chromosomal	WT1;CBX2;DHX37;DHH;DMRT1;NR5A1;NR0B1;MAP3K1;SOX9;SRY	WT1;CBX2;DHX37;DHH;DMRT1;NR5A1;NR0B1;MAP3K1;SOX9;SRY	https://raresource.nih.gov/literature/disease/0005068	0005068	612965	242	C0018054			WT1 transcription factor;chromobox 2;DEAH-box helicase 37;desert hedgehog signaling molecule;doublesex and mab-3 related transcription factor 1;nuclear receptor subfamily 5 group A member 1;nuclear receptor subfamily 0 group B member 1;mitogen-activated protein kinase kinase kinase 1;SRY-box transcription factor 9;sex determining region Y	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY complete gonadal dysgenesis"	0	0	575
Cenani-Lenz syndrome	cenani syndactylism//cenani-lenz syndactyly//clss//cenani lenz syndactyly//cenani lenz syndrome//cenani syndactyly//cenani-lenz syndactyly syndrome//cenani-lenz syndactyly syndrome; clss//cenani-lenz type syndactyly//syndactyly, type vii//syndactyly cenani lenz type//syndactyly type 7//syndactyly, type 7	APC;LRP4	APC;LRP4	https://raresource.nih.gov/literature/disease/0005084	0005084	212780	3258	C1859309			APC regulator of WNT signaling pathway;LDL receptor related protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cenani-Lenz syndrome"	0	0	54
Syndactyly type 3	familial syndactyly type 3//gja1 non-syndromic syndactyly//ring and little finger syndactyly//sd3//sdty3//syndactyly of fingers iv and v//syndactyly of fingers 4 and 5//syndactyly of fingers four and five//syndactyly of the ring and little finger//syndactyly, type iii//non-syndromic syndactyly caused by mutation in gja1//syndactyly type 3//syndactyly, type 3	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"	0	0	7
Syndactyly type 5	postaxial syndactyly with metacarpal synostosis//sd5//sdty5//syndactyly with metacarpal and metatarsal fusion//syndactyly with associated metacarpal and metatarsal fusion//syndactyly type 5//syndactyly, type 5//syndactyly, type v//syndactyly, type v; sdty5	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"	0	0	4
Syringocystadenoma papilliferum	fistulous vegetative verrucous hydradenoma//naevus syringocystadenomatosus papilliferus//nevus syringocystadenomatosus papilliferus//papillary syringocystadenomas//papillary syringadenoma//papillary syringocystadenoma//papilliferum, syringocystadenoma//scap//syringadenoma//syringadenoma papilliferum//syringocystadenoma papilliferums//syringocystadenoma, papillary//papillary syringadenoma (syringocystadenoma papilliferum)//papillary syringadenoma (morphologic abnormality)//syringocystadenoma 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"	0	0	561
Systemic primary carnitine deficiency	carnitine deficiency, primary//carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine//carnitine transporter, plasma-membrane, deficiency of//carnitine uptake defect//carnitine deficiency, systemic primary//carnitine deficiency, systemic primary; cdsp//cdsp//cud//carnitine deficiency, systemic//carnitine transporter deficiency//carnitine uptake deficiency//carnitine deficiency//carnitine plasma-membrane transporter deficiency//carnitine transporter defect//deficiency of plasma-membrane carnitine transporter//pcd//primary carnitine deficiency//primary systemic carnitine deficiency//renal carnitine transport defect//scd//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			solute carrier family 22 member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic primary carnitine deficiency"	0	0	18349
Thrombocytopenia-absent radius syndrome	absent radii and thrombocytopenia//chromosome 1q21.1 deletion syndrome, 200-kb//radial aplasia-amegakaryocytic thrombocytopenia//radial aplasia-thrombocytopenia syndrome//tar//tar - thrombocytopenia with absent radius syndrome//tar syndrome//thrombocytopenia absent radii//thrombocytopenia absent radius syndrome//thrombocytopenia with absent radii (tar) syndrome//thrombocytopenia with absent radius syndrome//thrombocytopenia-absent radius syndrome//thrombocytopenia-absent radii syndrome//chromosome 1q21.1 deletion syndrome//thrombocytopenia-absent radius syndrome; tar	RBM8A	RBM8A	https://raresource.nih.gov/literature/disease/0005116	0005116	274000	3320	C0175703			RNA binding motif protein 8A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia-absent radius syndrome"	0	0	419
Microcephalic osteodysplastic primordial dwarfism types I and III	brachymelic primordial dwarfism//cephaloskeletal dysplasia//crachami type//low-birth-weight dwarfism with skeletal dysplasia//mopd 1//mopd types i and iii//microcephalic osteodysplastic primordial dwarfism//microcephalic osteodysplastic primordial dwarfism type 1//microcephalic osteodysplastic primordial dwarfism types 1 and 3//microcephalic osteodysplastic primordial dwarfism, taybi-linder type//osteodysplastic primordial dwarfism type i//primordial microcephalic dwarfism//primordial microcephalic dwarfism, crachami type//taybi-linder syndrome//taybi-linder type//microcephalic osteodysplastic primordial dwarfism types i and iii	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0005120	0005120	210710	2636				RNA, U4atac small nuclear (U12-dependent splicing)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic osteodysplastic primordial dwarfism types I and III"	0	0	58
Otopalatodigital syndrome type 1	frontootopalatodigital osteodysplasia//opd 1 syndrome//opd i syndrome//opd syndrome 1//opd syndrome//opd1//otopalatodigital spectrum disorder//oto-palato-digital syndrome type 1//taybi syndrome//otopalatodigital syndrome type 1//otopalatodigital syndrome type i//otopalatodigital syndrome, type 1//otopalatodigital syndrome, type i//otopalatodigital syndrome, type i; opd1	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[]=Otopalatodigital syndrome type 1"	0	0	25
Frank-Ter Haar syndrome	autosomal recessive melnick-needles syndrome (formerly)//borrone dermatocardioskeletal syndrome//frank-ter haar syndrome; fths//fths//frank ter haar syndrome//frank-ter haar syndrome//melnick-needles syndrome, autosomal recessive//melnick-needles syndrome, autosomal recessive, formerly//megalocornea, multiple skeletal anomalies, and developmental delay//ter haar syndrome//autosomal recessive melnick-needles syndrome	SH3PXD2B	SH3PXD2B	https://raresource.nih.gov/literature/disease/0005138	0005138	249420	137834	C1855305			SH3 and PX domains 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Frank-Ter Haar syndrome"	0	0	40
X-linked thrombocytopenia with normal platelets	thc//thc1//thrombocytopenia, x-linked//thrombocytopenia, x-linked, 1//thrombocytopenia, x-linked, intermittent//thrombocytopenia 1//was-related disorders//x-linked thrombocytopenia//xlt//thrombocytopenia 1; thc1//thrombocytopenia type 1	WAS	WAS	https://raresource.nih.gov/literature/disease/0005176	0005176	313900	852				WASP actin nucleation promoting factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked thrombocytopenia with normal platelets"	0	0	3119
KRT1-related diffuse nonepidermolytic keratoderma	diffuse neppk//diffuse nonepidermolytic palmoplantar keratoderma//keratoderma, nonepidermolytic palmoplantar//krt1-related diffuse neppk//neppk//nonepidermolytic palmoplantar keratoderma//ppk diffusa circumscripta//ppkne//tylosis//thost-unna disease//thost-unna palmoplantar keratoderma//unna-thost palmoplantar keratoderma//krt1-related diffuse nonepidermolytic keratoderma//palmoplantar keratoderma, nonepidermolytic//palmoplantar keratoderma, nonepidermolytic; neppk	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0005186	0005186	600962	530838				keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KRT1-related diffuse nonepidermolytic keratoderma"	0	0	109
Stormorken-Sjaastad-Langslet syndrome	strmk//stormorken syndrome//stormorken syndrome; strmk//thrombocytopathy, asplenia, and miosis//thrombocytopathy - asplenia - miosis//thrombocytopathy asplenia miosis//thrombocytopathy-asplenia-miosis syndrome//york platelet syndrome//yps//thrombocytopathy, asplenia and miosis	STIM1;ORAI1	STIM1;ORAI1	https://raresource.nih.gov/literature/disease/0005188	0005188	185070	3204	C1861451			stromal interaction molecule 1;ORAI calcium release-activated calcium modulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stormorken-Sjaastad-Langslet syndrome"	0	0	46
Thrombocytopenia 2	2//helmerhorst heaton crossen syndrome//thc2//thrombocytopenia, autosomal dominant, 2//thrombocytopenia//thrombocytopenia autosomal dominant 2//thrombocytopenia, autosomal dominant//autosomal dominant//thrombocytopenia 2//thrombocytopenia 2; thc2//thrombocytopenia type 2	ANKRD26	ANKRD26	https://raresource.nih.gov/literature/disease/0005191	0005191			C1861185			ankyrin repeat domain containing 26	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thrombocytopenia 2"	0	0	363
Immune thrombocytopenia	aitp//autoimmune thrombocytopenia//autoimmune thrombocytopenias//autoimmune thrombocytopenic purpura//autoimmune thrombocytopenic purpuras//disease, werlhof//disease, werlhof's//idiopathic thrombocytopenic purpura//immune thrombocytopenic purpura//itp//itp - immune thrombocytopenic purpura//ideopath thrombocytopenic pur//idiopathic thrombocytopenic purpuras//idiopathic thrombocytopenic purpura (itp)//immune thrombocytopenia//immune thrombocytopenias//immune thrombocytopenic purpuras//immune thrombocytopenic purpura (disorder)//purpura, autoimmune thrombocytopenic//purpura, idiopathic thrombocytopenic//purpura, immune thrombocytopenic//purpura, thrombocytopenic, autoimmune//purpura, thrombocytopenic, idiopathic//purpuras, autoimmune thrombocytopenic//purpuras, idiopathic thrombocytopenic//purpuras, immune thrombocytopenic//thrombocytopenia, autoimmune//thrombocytopenia, immune//thrombocytopenias, autoimmune//thrombocytopenias, immune//thrombocytopenic purpura, autoimmune//thrombocytopenic purpura, idiopathic//thrombocytopenic purpura, immune//thrombocytopenic purpuras, idiopathic//thrombocytopenic purpuras, immune//thrombocytopenic purpura autoimmune//werlhof disease//werlhof's disease//werlhofs disease//idiopathic purpura//idiopathic thrombocytopenia//idiopathic thrombocytopenia purpura//primary thrombocytopenic purpura//thrombocytopenic purpura, autoimmune; aitp	FCGR2C	FCGR2C	https://raresource.nih.gov/literature/disease/0005194	0005194	188030	3002	C0398650	D016553		Fc gamma receptor IIc (gene/pseudogene)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immune thrombocytopenia"	0	0	124
Thyroid cancer, nonmedullary, 2	ftc//follicular thyroid carcinoma//nmtc2//thyroid cancer, follicular//thyroid carcinoma, follicular//thyroid cancer, nonmedullary, 2//thyroid cancer, nonmedullary, 2; nmtc2//thyroid cancer, nonmedullary, type 2	HRAS;SRGAP1;MINPP1;NRAS	HRAS;SRGAP1;MINPP1;NRAS	https://raresource.nih.gov/literature/disease/0005206	0005206			C4225426			HRas proto-oncogene, GTPase;SLIT-ROBO Rho GTPase activating protein 1;multiple inositol-polyphosphate phosphatase 1;NRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid cancer, nonmedullary, 2"	0	0	1774
Hereditary neuropathy with liability to pressure palsies	compression neuropathy//current pressure-sensitive neuropathy//familial pressure sensitive neuropathy//hnpp//hereditary neuropathy with liability to pressure palsies//hereditary neuropathy with liability to pressure palsy//hereditary pressure sensitive neuropathy//hereditary liability to pressure palsies//heterozygous microdeletion 17p11.2p12//inherited tendency to pressure palsies//neuropathy, hereditary, with liability to pressure palsies//polyneuropathy, familial recurrent//potato-grubbing palsy//tomaculous neuropathy//tulip-bulb digger's palsy//familial recurrent polyneuropathy//neuropathy, hereditary, with liability to pressure palsies; hnpp	PMP22	PMP22	https://raresource.nih.gov/literature/disease/0005221	0005221	162500	640	C0393814			peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary neuropathy with liability to pressure palsies"	0	0	733
Toriello-Carey syndrome	agenesis of corpus callosum with facial anomalies and robin sequence//corpus callosum, agenesis of, with facial anomalies and robin sequence//corpus callosum agenesis - blepharophimosis - robin sequence//corpus callosum agenesis facial anomalies robin sequence//corpus callosum agenesis-blepharophimosis-robin sequence syndrome//toriello-carey syndrome//toriello carey syndrome	DDX3X	DDX3X	https://raresource.nih.gov/literature/disease/0005225	0005225	217980	3338	C0796184			DEAD-box helicase 3 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Toriello-Carey syndrome"	0	0	32
Skin fragility-woolly hair-palmoplantar keratoderma syndrome	sfwhs//skin fragility woolly hair syndrome//skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome//skin fragility-woolly hair syndrome//skin fragility-woolly hair syndrome; sfwhs//skin fragility-woolly hair-palmoplantar keratoderma syndrome	DSP	DSP	https://raresource.nih.gov/literature/disease/0005231	0005231	607655	293165				desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skin fragility-woolly hair-palmoplantar keratoderma syndrome"	0	0	5
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder 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 gallbladder syndrome"	0	0	None
Autosomal dominant optic atrophy plus syndrome	doa+//optic atrophy-deafness-polyneuropathy-myopathy syndrome//optic atrophy-hearing loss-polyneuropathy-myopathy syndrome	OPA1	OPA1	https://raresource.nih.gov/literature/disease/0005243	0005243	165199	1215	C1832466	C535351		OPA1 mitochondrial dynamin like GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant optic atrophy plus syndrome"	0	0	207
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	congenital trichomegaly, pigmentary retinal degeneration, and short stature//eyelashes, long, with mental retardation//eyelashes long mental retardation//eyelashes, long with intellectual disability//eyelashes, long with mental retardation//long eyelashes - intellectual disability//long eyelashes-intellectual disability syndrome//omcs//oliver mcfarlane syndrome//oliver-mcfarlane syndrome//oliver-mcfarlane syndrome; omcs//trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina//trichomegaly retina pigmentary degeneration dwarfism//trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina//trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina//trichomegaly with retina pigmentary degeneration and dwarfism syndrome//eyelashes, long, with intellectual disability//trichomegaly with intellectual disability, dwarfism, and pigmentary degeneration of retina//trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0005266	0005266	275400	3363	C1848745			patatin like phospholipase domain containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"	0	0	26
Baraitser-Winter cerebrofrontofacial syndrome	brws//baraitser-winter syndrome//cerebro-frontofacial syndrome, type 3//cerebrofrontofacial syndrome type 3//fryns-aftimos syndrome//iris coloboma with ptosis hypertelorism and mental retardation//iris coloboma-ptosis-intellectual disability syndrome//trigonocephaly ptosis coloboma//trigonocephaly ptosis mental retardation//iris coloboma with ptosis hypertelorism and intellectual disability//trigonocephaly ptosis intellectual disability	ACTB;ACTG1	ACTB;ACTG1	https://raresource.nih.gov/literature/disease/0005279	0005279	243310	2995	C1855722			actin beta;actin gamma 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Baraitser-Winter cerebrofrontofacial syndrome"	0	0	57
Triose phosphate-isomerase deficiency	deficiency of phosphotriose isomerase//deficiency of triosephosphate mutase//tp1 deficiency//tpi - thiose phosphate isomerase deficiency//tpi deficiency//tpid//triosephosphate isomerase deficiency//triosephosphate-isomerase deficiency//triose phosphate-isomerase deficiency//triosephosphate isomerase deficiency; tpid	TPI1	TPI1	https://raresource.nih.gov/literature/disease/0005287	0005287	615512	868	C0398562			triosephosphate isomerase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Triose phosphate-isomerase deficiency"	0	0	102
Polydactyly of a triphalangeal thumb	bilateral ppd2//polydactyly of triphalangeal thumb//ppd2//patterson stevenson fontaine syndrome//patterson stevenson syndrome//patterson-stevenson-fontaine syndrome//preaxial polydactyly type 2//split foot deformity with mandibulofacial dysostosis syndrome//split-foot deformity with mandibulofacial dysostosis//split-foot deformity with ectrodactyly and mandibulofacial dysostosis//tpt//tpt and psd syndrome//tpt-ps syndrome//triphalangeal thumb//triphalangeal thumb with polysyndactyly//triphalangeal thumb-polydactyly syndrome//triphalangeal thumb-polysyndactyly syndrome//triphalangeal thumb and polysyndactyly syndrome//triphalangeal thumb polysyndactyly syndrome//unilateral ppd2//polydactyly of a triphalangeal thumb//polydactyly of a triphalangeal thumb, bilateral//polydactyly of a triphalangeal thumb, unilateral//polydactyly, preaxial 2//polydactyly, preaxial ii//polydactyly, preaxial ii; ppd2//polydactyly, preaxial type 2//preaxial polydactyly type 2, bilateral//preaxial polydactyly type 2, unilateral	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"	0	0	134
Autosomal recessive spastic paraplegia type 20	childhood-onset spastic paraparesis - distal muscle wasting//childhood-onset spastic paraparesis-distal muscle wasting syndrome//cross-mckusick syndrome//spastic paraparesis, childhood-onset, with distal muscle wasting//spastic paraplegia, autosomal recessive, troyer type//spg20//spastic paraparesis childhood-onset with distal muscle wasting//spastic paraparesis, childhood onset, with distal muscle wasting//spastic paraplegia 20//spastic paraplegia 20, autosomal recessive//spastic paraplegia autosomal recessive troyer type//spastic paraplegia with distal muscle wasting//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//hereditary spastic paraplegia 20//spastic paraplegia 20 (troyer syndrome)//spastic paraplegia 20, autosomal recessive; spg20//spastic paraplegia type 20	SPART	SPART	https://raresource.nih.gov/literature/disease/0005372	0005372	275900	101000	C0393559			spartin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 20"	0	0	45
Uncombable hair syndrome	cheveux incoiffables//pili trianguli et canaliculi//spun glass hair//spun-glass hair//uhs//unmanageable hair syndrome//uncombable hair syndrome	PADI3;TGM3	PADI3;TGM3	https://raresource.nih.gov/literature/disease/0005404	0005404	617251	1410	C0432347	C536939		peptidyl arginine deiminase 3;transglutaminase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uncombable hair syndrome"	0	0	122
17q11 microdeletion syndrome	chromosome 17q11.2 deletion syndrome//chromosome 17q11.2 deletion syndrome, 1.4mb//del(17)(q11)//monosomy 17q11//neurofibromatosis 1 microdeletion syndrome//nf1 microdeletion syndrome//nf1 microduplication syndrome//neurofibromatosis type 1 microdeletion syndrome//van asperen syndrome//chromosome 17q11.2 deletion syndrome, 1.4-mb	NF1	NF1	https://raresource.nih.gov/literature/disease/0005408	0005408	613675	97685	C3150928			neurofibromin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=17q11 microdeletion syndrome"	0	0	26
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	kagami-ogata syndrome//kos//kagami ogata syndrome//mca due to 14q32.2 maternally expressed gene defect//multiple congenital anomalies due to 14q32.2 maternally expressed gene defect//paternal uniparental disomy 14//paternal uniparental disomy of chromosome 14//uniparental disomy, paternal, chromosome 14//upd(14)pat//upd14, paternal//uniparental disomy of paternal origin of chromosome 14//paternal uniparental disomy of chromosome type 14	MEG3;RTL1;DLK1	MEG3;RTL1;DLK1	https://raresource.nih.gov/literature/disease/0005409	0005409	608149	96334	C1842466	C536471		maternally expressed 3;retrotransposon Gag like 1;delta like non-canonical Notch ligand 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"	0	0	74
Hereditary orotic aciduria	combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency//hereditary orotic aciduria//hereditary orotic aciduria type 1//hereditary orotic aciduria without megaloblastic anemia//hereditary orotic aciduria, type 1//oawa//oprt and odc deficiency//oprt and omp decarboxylase deficiency//orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency//orotic aciduria//orotic aciduria i//orotic aciduria without megaloblastic anemia//orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency//orotate phosphoribosyltransferase and omp decarboxylase deficiency//orotic aciduria ii (formerly)//orotic aciduria type 1//oroticaciduria 1//orotidylic decarboxylase deficiency//orotidylic pyrophosphorylase orotidylic decarboxylase deficiency//ump synthase deficiency//ump synthtase deficiency//umps//umps - uridine monophosphate synthase deficiency//umps deficiency//uridine monophosphate synthase deficiency//uridine monophosphate synthetase deficiency//orotic aciduria 1//oroticaciduria	UMPS	UMPS	https://raresource.nih.gov/literature/disease/0005429	0005429	258900	30	C0268130	C537136		uridine monophosphate synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary orotic aciduria"	0	0	585
Usher syndrome type 1	retinitis pigmentosa and congenital deafness//us1//ush1//ush1a//ush1a, formerly//ush1b//usher syndrome, type i, french variety, formerly//usher syndrome, type ia, formerly//usher syndrome, type ib//usher syndrome, type i//usher syndrome, type i; ush1//usher syndrome, type 1//usher syndrome, type 1a//usher syndrome, type 1b//usher syndrome, type i, french variety//usher syndrome, type ia	CIB2;USH1E;MYO7A;USH1C;ESPN;CDH23;PCDH15;USH1G;USH1H;USH1K	CIB2;USH1E;MYO7A;USH1C;ESPN;CDH23;PCDH15;USH1G;USH1H;USH1K	https://raresource.nih.gov/literature/disease/0005435	0005435	618632	231169	C0339533			calcium and integrin binding family member 2;Usher syndrome-1E, autosomal recessive, severe;myosin VIIA;USH1 protein network component harmonin;espin;cadherin related 23;protocadherin related 15;USH1 protein network component sans;Usher syndrome, type 1H;Usher syndrome, type IK	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 1"	0	0	251
Usher syndrome type 2	retinal disease in usher syndrome type iia, modifier of//us2//ush2//ush2a//ush2a usher syndrome//ush2a usher syndrome 2a//usher syndrome, type iia//usher syndrome, type iia; ush2a//usher syndrome caused by mutation in ush2a//usher syndrome type 2a//usher syndrome type iia//usher syndrome, type 2a	WHRN;ADGRV1;USH2A;PDZD7;MYO7A	WHRN;ADGRV1;USH2A;PDZD7;MYO7A	https://raresource.nih.gov/literature/disease/0005440	0005440	611383	231178	C0339534			whirlin;adhesion G protein-coupled receptor V1;usherin;PDZ domain containing 7;myosin VIIA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 2"	0	0	157
Usher syndrome type 3	retinitis pigmentosa-deafness syndrome type 3//ush3//ush3a//usher syndrome, type iiia//usher syndrome, type 3//usher syndrome, type iii//usher syndrome type 3a	ARSG;CLRN1;CEP78;HARS1	ARSG;CLRN1;CEP78;HARS1	https://raresource.nih.gov/literature/disease/0005442	0005442	276902	231183	C1568248			arylsulfatase G;clarin 1;centrosomal protein 78;histidyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Usher syndrome type 3"	0	0	48
VACTERL/VATER association	vactel association//vacterl syndrome//vacterl association//vacterl/vater association//vater association//vater syndrome//vater/vacterl association//vertebral anal tracheoesophageal esophageal radial anomalies//vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects (vacterl) syndrome//vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome//vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia	HOXD13	HOXD13	https://raresource.nih.gov/literature/disease/0005443	0005443	192350	887	C0220708	C536495		homeobox D13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=VACTERL/VATER association"	0	0	228
Cerebrofacioarticular syndrome	cerebrofacioarticular syndrome//cerebro-facio-articular syndrome//cerebro-facio-articular syndrome of van maldergem//dchs1 van maldergem syndrome//van maldergem syndrome 1; vmlds1//vmlds1//van maldergem wetzburger verloes syndrome//van maldergem syndrome//van maldergem syndrome type 1//van maldergem syndrome 1//van maldergem syndrome caused by mutation in dchs1	FAT4;DCHS1	FAT4;DCHS1	https://raresource.nih.gov/literature/disease/0005456	0005456	601390	314679	C1832390			FAT atypical cadherin 4;dachsous cadherin-related 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrofacioarticular syndrome"	0	0	18
Congenital bilateral absence of vas deferens	absence of vas deferens//absent vasa//cavd//cbavd//congenital absence of vas deferens//congenital aplasia of vas deferens//congenital bilateral absence of vas deferens//congenital bilateral absence of the vas deferens//congenital bilateral agenesis of vas deferens//congenital bilateral aplasia of vas deferens//vas deferens, congenital bilateral aplasia of//congenital bilateral aplasia of the vas deferens//congenital bilateral aplasia of vas deferens from cftr mutation	CFTR;ADGRG2	CFTR;ADGRG2	https://raresource.nih.gov/literature/disease/0005461	0005461	300985	48	C0403814	C535984		CF transmembrane conductance regulator;adhesion G protein-coupled receptor G2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bilateral absence of vas deferens"	0	0	973
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//vgam//vein of galen aneurysm//vein of galen aneurysm malformation//vein of galen arteriovenous malformations//vein of galen malformation	EPHB4	EPHB4	https://raresource.nih.gov/literature/disease/0005467	0005467	618196	1053	C0431420	C536535		EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vein of Galen aneurysmal malformation"	0	0	581
Brachyolmia-amelogenesis imperfecta syndrome	amelogenesis imperfecta and platyspondyly//dass//platyspondyly with amelogenesis imperfecta//platyspondyly - amelogenesis imperfecta//platyspondyly-amelogenesis imperfecta syndrome//sthag6//sthag6, formerly//skeletal dysplasia with amelogenesis imperfecta and platyspondyly//tooth agenesis, selective, 6, formerly//vbs//verloes-bourguignon syndrome//verloes bourguignon syndrome//brachyolmia-amelogenesis imperfecta syndrome//dental anomalies and short stature//dental anomalies and short stature; dass//selective tooth agenesis 5//tooth agenesis, selective, 6	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"	0	0	94
Malignant Sertoli-Leydig cell tumor of the ovary	androblastoma//arrhenoblastoma//ovarian sertoli-leydig cell cancer//ovarian malignant sertoli-leydig cell tumor//virilizing ovarian tumor	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0005495	0005495		99916	C0206723			dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malignant Sertoli-Leydig cell tumor of the ovary"	0	0	187
Autosomal dominant vitreoretinochoroidopathy	advirc//autosomal dominant vitreoretinochoroidopathy//autosomal dominant vitreoretinochoroidopathy with nanophthalmos//microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2//mrcs2//microcornea, rod-cone dystrophy, cataract, and posterior staphyloma//vitreoretinochoroidopathy with microcornea, glaucoma, and cataract//vitreoretinochoroidopathy, autosomal dominant//vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos//vrcp//vrcp autosomal dominant//vitreoretinochoroidopathy dominant//vitreoretinochoroidopathy with microcornea, glaucoma and cataract//vitreoretinochoroidopathy//vitreoretinochoroidopathy; vrcp	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"	0	0	39
Very long chain acyl-CoA dehydrogenase deficiency	acadl deficiency//acadvld//acadvl//acyl-coa dehydrogenase very long chain deficiency//acyl-coa dehydrogenase, long-chain, deficiency of//lcad//lcad - long chain acyl-coa dehydrogenase deficiency//lcad deficiency//long chain acyl-coenzyme a dehydrogenase deficiency//long-chain acyl-coa dehydrogenase deficiency//vlcad//vlcad - very long chain acyl-coa dehydrogenase deficiency//vlcad deficiency//vlcadd//very long-chain acyl coenzyme a dehydrogenase deficiency//very long chain acyl-coenzyme a dehydrogenase deficiency//very long-chain acyl-coa dehydrogenase deficiency//vlcad-c//vlcad-h//acyl-coa dehydrogenase, long-chain deficiency//acyl-coa dehydrogenase, very long-chain deficiency//acyl-coa dehydrogenase, very long-chain, deficiency of//acyl-coa dehydrogenase, very long-chain, deficiency of; acadvld//inborn error of long-chain-acyl-coa dehydrogenase activity//inborn long-chain-acyl-coa dehydrogenase activity disorder//long chain acyl-coa dehydrogenase deficiency//long-chain acyl-coenzyme a dehydrogenase deficiency//rare inborn error of long-chain-acyl-coa dehydrogenase activity//very long chain acyl-coa dehydrogenase deficiency//very long-chain acyl-coenzyme a dehydrogenase deficiency	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"	0	0	376
Waardenburg syndrome type 1	waardenburg syndrome with dystopia canthorum//ws1//waardenburg syndrome type i//waardenburg syndrome, type 1//waardenburg syndrome, type 1; ws1//waardenburg's syndrome type 1	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"	0	0	146
Waardenburg syndrome type 2	mitf waardenburg syndrome type 2//waardenburg syndrome without dystopia canthorum//waardenburg syndrome, type iia//ws 2//ws type 2//ws type 2 waardenburg syndrome type 2//ws2//ws2a//waardenburg syndrome type ii//waardenburg syndrome, type 2a//waardenburg syndrome, type 2e//waardenburg syndrome, type 2e, with or without neurologic involvement//waardenburg syndrome, type iie//waardenburg syndrome type 2 caused by mutation in mitf//waardenburg syndrome type iia//waardenburg syndrome, type 2a; ws2a	EDNRB;TYR;SOX10;KITLG;MITF;SNAI2	EDNRB;TYR;SOX10;KITLG;MITF;SNAI2	https://raresource.nih.gov/literature/disease/0005520	0005520	193510	895	C2700265	C536463		endothelin receptor type B;tyrosinase;SRY-box transcription factor 10;KIT ligand;melanocyte inducing transcription factor;snail family transcriptional repressor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waardenburg syndrome type 2"	0	0	167
Waardenburg syndrome type 3	klein-waardenburg syndrome//waardenburg syndrome with upper limb anomalies//waardenburg syndrome, type iii//ws3//waardenburg syndrome type iii//waardenburg syndrome with limb anomalies//waardenburg syndrome, type 3//waardenburg syndrome, type 3; ws3//white forelock (poliosis) syndrome with multiple congenital malformations	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"	0	0	26
Waardenburg-Shah syndrome	hirschsprung disease with pigmentary anomaly//shah-waardenburg syndrome//ws4//waardenburg syndrome type 4//waardenburg syndrome type iv//waardenburg-hirschsprung disease//waardenburg-hirschsprung syndrome	EDN3;EDNRB;SOX10;MITF	EDN3;EDNRB;SOX10;MITF	https://raresource.nih.gov/literature/disease/0005524	0005524	277580	897	C3266898			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"	0	0	137
WAGR syndrome	del(11)(p13)//deletion 11p13//monosomy 11p13//wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome	PAX6;WT1;BDNF	PAX6;WT1;BDNF	https://raresource.nih.gov/literature/disease/0005528	0005528	612469	893	C2931803	D017624		paired box 6;WT1 transcription factor;brain derived neurotrophic factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=WAGR syndrome"	0	0	173
Micro syndrome	micro syndrome//micro syndrome 1//microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism//rab3gap1 warburg micro syndrome//warbm//warbm1//warbm1 warburg micro syndrome 1//warburg micro syndrome//warburg micro syndrome 1; warbm1//warburg sjo fledelius syndrome//warburg micro syndrome 1//warburg micro syndrome caused by mutation in rab3gap1//warburg micro syndrome type 1//warburg-sjo-fledelius syndrome//microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism	TBC1D20;RAB18;RAB3GAP2;RAB3GAP1	TBC1D20;RAB18;RAB3GAP2;RAB3GAP1	https://raresource.nih.gov/literature/disease/0005534	0005534	615663	2510	C1838625			TBC1 domain family member 20;RAB18, member RAS oncogene family;RAB3 GTPase activating non-catalytic protein subunit 2;RAB3 GTPase activating protein catalytic subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Micro syndrome"	0	0	74
Craniosynostosis, Boston type	craniosynostosis, boston-type//crs2//csb//craniosynostosis//craniosynostosis boston type//craniosynostosis warman type//craniosynostosis, warman type//msx2-related craniosynostosis//warman mulliken hayward syndrome//warman type//warman-mulliken-hayward syndrome//craniosynostosis 2//craniosynostosis 2; crs2//craniosynostosis type 2	MSX2	MSX2	https://raresource.nih.gov/literature/disease/0005538	0005538	604757	1541	C2931287			msh homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Craniosynostosis, Boston type"	0	0	926
Acromelic frontonasal dysplasia	afnd//acromelic frontonasal dysostosis//toriello syndrome	ZSWIM6	ZSWIM6	https://raresource.nih.gov/literature/disease/0005539	0005539	603671	1827	C0796182	C535657		zinc finger SWIM-type containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromelic frontonasal dysplasia"	0	0	26
Distal myopathy, Welander type	distal myopathy swedish type//distal myopathy welander type//distal myopathy, swedish type//muscular dystrophy, distal, late-onset, autosomal dominant//myopathy, distal, swedish//wdm//welander distal myopathy//welander distal myopathy, swedish type//welander distal myopathy; wdm//distal myopathy, welander type	TIA1;SQSTM1	TIA1;SQSTM1	https://raresource.nih.gov/literature/disease/0005552	0005552	604454	603	C0221054	C536690		TIA1 cytotoxic granule associated RNA binding protein;sequestosome 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal myopathy, Welander type"	0	0	28
Wiedemann-Steiner syndrome	a syndrome of abnormal facies, short stature, and psychomotor retardation//hairy elbows, short stature, facial dysmorphism, and developmental delay//hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome//wdsts//wiedemann grosse dibbern syndrome//wiedemann-steiner syndrome; wdsts	KMT2A	KMT2A	https://raresource.nih.gov/literature/disease/0005565	0005565	605130	319182	C1854630			lysine methyltransferase 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wiedemann-Steiner syndrome"	0	0	80
Denys-Drash syndrome	dds//dms//drash syndrome//denys drash syndrome//denys-drash syndrome//denys-drash syndrome; dds//familial mesangial sclerosis//nephropathy, wilms tumor, and genital anomalies//nephrotic syndrome type 4//nphs4//nephropathy associated with male pseudohermaphroditism and wilms' tumor//nephrotic syndrome with pseudohermaphroditism//nephrotic syndrome, early onset with diffuse mesangial sclerosis//pseudohermaphroditism, nephron disorder and wilms' tumor//syndrome, denys-drash//syndrome, drash//wilms tumor and pseudo- or true hermaphroditism//wt1 nephrotic syndrome//wilms tumor and pseudohermaphroditism//wilms tumor-dsd syndrome//wilms tumor-disorder of sex development syndrome//wilms' tumor and nephrotic syndrome with pseudohermaphroditism//congenital nephrotic syndrome - diffuse mesangial sclerosis//diffuse isolated mesangial sclerosis//diffuse mesangial sclerosis//isolated diffuse mesangial sclerosis//mesangial sclerosis, diffuse//nephrotic syndrome caused by mutation in wt1//nephrotic syndrome, type 4	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[]=Denys-Drash syndrome"	0	0	1146
Wilson-Turner syndrome	mental retardation, x-linked, syndromic 6//mental retardation, x-linked, with gynecomastia and obesity//mrxs6//mental retardation, x-linked, syndromic 6 (formerly)//mental retardation, x-linked, with gynecomastia and obesity (formerly)//wts//wilson turner intellectual disability syndrome (formerly)//wilson turner mental retardation syndrome//wilson turner mental retardation syndrome (formerly)//wilson-turner x-linked intellectual disability syndrome//wilson-turner x-linked intellectual disability syndrome; wts//wilson-turner x-linked mental retardation syndrome//wilson-turner x-linked mental retardation syndrome; wts//x-linked intellectual disability - gynecomastia - obesity//x-linked intellectual disability-gynecomastia-obesity syndrome//intellectual disability, x-linked, syndromic 6//intellectual disability, x-linked, syndromic 6 (formerly)//intellectual disability, x-linked, with gynecomastia and obesity//intellectual disability, x-linked, with gynecomastia and obesity (formerly)	LAS1L;HDAC8	LAS1L;HDAC8	https://raresource.nih.gov/literature/disease/0005579	0005579	309585	3459	C1839736			LAS1 like ribosome biogenesis factor;histone deacetylase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilson-Turner syndrome"	0	0	298
Curry-Jones syndrome	agenesis of corpus callosum with polysyndactyly syndrome//craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development//crjs//corpus callosum agenesis - polysyndactyly//corpus callosum agenesis polysyndactyly//corpus callosum agenesis-polysyndactyly syndrome//curry jones syndrome//curry-jones syndrome//winter shortland temple syndrome//curry-jones syndrome; crjs	SMO	SMO	https://raresource.nih.gov/literature/disease/0005584	0005584	601707	1553				smoothened, frizzled class receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Curry-Jones syndrome"	0	0	10
Hypodontia-dysplasia of nails syndrome	dysplasia of nails with hypodontia//ectd3//ectodermal dysplasia 3, tooth/nail type//ectodermal dysplasia 3, witkop type//hnd//hypodontia - dysplasia of nails//hypodontia - nail dysgenesis//hypodontia-nail dysgenesis syndrome//hypoplastic enamel-onycholysis-hypohidrosis syndrome//nail dysplasia with hypodontia//tns//tooth-and-nail syndrome//tooth and nail syndrome//witkop syndrome//witkop's syndrome//witkop-brearley-gentry syndrome//hypodontia and nail dysplasia//hypodontia with nail dysplasia//hypodontia-dysplasia of nails syndrome//hypodontia-nail dysplasia	MSX1	MSX1	https://raresource.nih.gov/literature/disease/0005587	0005587	189500	2228	C0406716			msh homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypodontia-dysplasia of nails syndrome"	0	0	266
Wolcott-Rallison syndrome	early-onset diabetes mellitus with multiple epiphyseal dysplasia//epiphyseal dysplasia multiple with early-onset diabetes mellitus//epiphyseal dysplasia, multiple, with early onset diabetes mellitus//epiphyseal dysplasia, multiple, with early-onset diabetes mellitus//iddm-med syndrome//med-iddm syndrome//multiple epiphyseal dysplasia with early-onset diabetes mellitus//wolcott-rallison syndrome//wrs//wolcott rallison syndrome//wolcott-rallison dysplasia	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 syndrome"	0	0	852
Woodhouse-Sakati syndrome	diabetes-hypogonadism-deafness-intellectual disability syndrome//diabetes-hypogonadism-hearing loss-intellectual disability syndrome	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"	0	0	2756
Carvajal syndrome	carvajal syndrome//cardiomyopathy dilated with woolly hair and keratoderma//cardiomyopathy, dilated, with woolly hair and keratoderma//dcwhk//epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy//epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy//kwwh type ii//keratoderma with woolly hair type ii//keratoderma with wooly hair type ii//palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair//woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome//woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome//wooly hair - palmoplantar keratoderma - dilated cardiomyopathy//wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome//wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome//wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome//arrhythmogenic cardiomyopathy with woolly hair and keratoderma//cardiomyopathy, dilated, with woolly hair and keratoderma; dcwhk//dilated cardiomyopathy with woolly hair and keratoderma//woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome	DSP	DSP	https://raresource.nih.gov/literature/disease/0005595	0005595	615821	65282	C1854063			desmoplakin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carvajal syndrome"	0	0	44
Woolly hair	familial woolly hair syndrome//familial wooly hair syndrome//hereditary woolly hair syndrome//hereditary wooly hair syndrome//wooly hair	KRT74;KRT71;LIPH;KRT25;LPAR6	KRT74;KRT71;LIPH;KRT25;LPAR6	https://raresource.nih.gov/literature/disease/0005597	0005597	616760	170	C0343073	C536745		keratin 74;keratin 71;lipase H;keratin 25;lysophosphatidic acid receptor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Woolly hair"	0	0	126
Intellectual developmental disorder, x-linked 63	acsl4 non-syndromic x-linked intellectual disability//acsl4-related intellectual disability//intellectual developmental disorder, x-linked 63//mental retardation, x-linked 68//mrx63//mrx68//mental retardation//xlid63//intellectual disability, x-linked 63//intellectual disability, x-linked 63; mrx63//intellectual disability, x-linked 68//intellectual disability, x-linked type 63//mental retardation, x-linked 63//mental retardation, x-linked 63; mrx63//mental retardation, x-linked type 63//non-syndromic x-linked intellectual disability caused by mutation in acsl4//x-linked 63//x-linked 68	ACSL4	ACSL4	https://raresource.nih.gov/literature/disease/0005613	0005613			C1845672			acyl-CoA synthetase long chain family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, x-linked 63"	0	0	22853
Intellectual developmental disorder, x-linked 29	arx-related disorders//arx-related intellectual disability//intellectual developmental disorder, x-linked 29//intellectual disability, x-linked, with or without seizures, arx-related//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 54//mental retardation, x-linked 76//mental retardation, x-linked 87//mrx29//mrx32//mrx33//mrx38//mrx43//mrx52//mrx54//mrx76//mrx87//mrxarx//mental retardation//x-linked mental retardation 54//xlid29//intellectual disability, x-linked 29//intellectual disability, x-linked 32//intellectual disability, x-linked 33//intellectual disability, x-linked 38//intellectual disability, x-linked 43//intellectual disability, x-linked 52//intellectual disability, x-linked 52; mrx52//intellectual disability, x-linked 54//intellectual disability, x-linked 76//intellectual disability, x-linked 87//intellectual disability, x-linked, with or without seizures, arx-related; mrxarx//mental retardation, x-linked 52; mrx52//mental retardation, x-linked, with or without seizures, arx-related; mrxarx//mental retardation, x-linked, with or without seizures, arx-related//x-linked 29//x-linked 32//x-linked 33//x-linked 38//x-linked 43//x-linked 52//x-linked 54//x-linked 76//x-linked 87	ARX	ARX	https://raresource.nih.gov/literature/disease/0005614	0005614			C0796244			aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, x-linked 29"	0	0	22859
X-linked intellectual disability, Snyder type	intellectual developmental disorder, x-linked, syndromic, snyder-robinson type//mental retardation, x-linked, syndromic, snyder-robinson type//mrxssr//mental retardation, x-linked, snyder-robinson type//snyder-robinson mental retardation syndrome//srs//snyder robinson syndrome//snyder-robinson syndrome//snyder-robinson intellectual disability syndrome//snyder-robinson x-linked mental retardation syndrome//spermine synthase deficiency//x-linked intellectual disability snyder type//x-linked intellectual disability snyder-robinson type//x-linked mental retardation snyder - robinson type//x-linked mental retardation snyder-robinson type//intellectual disability, x-linked, snyder-robinson type//intellectual disability, x-linked, syndromic, snyder-robinson type//intellectual disability, x-linked, syndromic, snyder-robinson type; mrxssr//mental retardation, x-linked, syndromic, snyder-robinson type; mrxssr//syndromic x-linked intellectual disability snyder type	SMS	SMS	https://raresource.nih.gov/literature/disease/0005615	0005615	309583	3063	C0796160			spermine synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Snyder type"	0	0	621
Allan-Herndon-Dudley syndrome	ahds//allan-herndon syndrome//allan-herndon-dudley syndrome; ahds//intellectual disability and muscular atrophy//mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency//mct8 deficiency//mct8-specific thyroid hormone cell-membrane transporter deficiency//mct8-specific thyroid hormone cell membrane transporter deficiency//mental retardation and muscular atrophy//mental retardation, x-linked, with hypotonia//monocarboxylate transporter 8 deficiency//monocarboxylate transporter 8 (mct8) deficiency//monocarboxylate transporter-8 deficiency//t3 resistance//t3 resisitence//triiodothyronine resistance//triiodothyronine resistence//x-linked intellectual disability - hypotonia//x-linked intellectual disability with hypotonia//x-linked intellectual disability-hypotonia syndrome//x-linked intellectual disability-spastic quadriparesis syndrome//x-linked mental retardation with hypotonia//intellectual disability with spastic paraplegia//intellectual disability, x-linked, with hypotonia//mental retardation with spastic paraplegia	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"	0	0	240
T-B+ severe combined immunodeficiency due to gamma chain deficiency	imd4//immunodeficiency 4//scid, x-linked//scid-x1//scidx//scidx1//severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative//severe combined immunodeficiency t- b+ due to gamma chain deficiency//severe combined immunodeficiency t- b+, x-linked//severe combined immunodeficiency, x-linked//t-b+ scid due to gamma chain deficiency//t-b+ severe combined immunodeficiency//t-b+ severe combined immunodeficiency, x-linked//x-linked severe combined immunodeficiency//x-scid//x-linked//x-linked scid//xscid//gamma chain deficiency//severe combined immunodeficiency, x-linked; scidx1//thymic epithelial hypoplasia	IL2RG	IL2RG	https://raresource.nih.gov/literature/disease/0005618	0005618	300400	276	C2931540			interleukin 2 receptor subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-B+ severe combined immunodeficiency due to gamma chain deficiency"	0	0	648
Xanthinuria type II	type 2 xanthinuria//type ii xanthinuria//xan2//xanthine dehydrogenase and aldehyde oxidase, combined deficiency of//xdh and aox dual deficiency//xanthine dehydrogenase and aldehyde oxidase combined deficiency of//xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency//xanthinuria type 2//xanthinuria type ii//xanthinuria, type 2//xanthinuria, type ii//xanthinuria, type ii; xan2	MOCOS	MOCOS	https://raresource.nih.gov/literature/disease/0005620	0005620	603592	93602	C1863688			molybdenum cofactor sulfurase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xanthinuria type II"	0	0	10
Xanthinuria type I	type 1 xanthinuria//xan1//xanthine dehydrogenase deficiency//xanthine oxidase deficiency//xdh deficiency//xo deficiency//xor deficiency//xanthine oxidoreductase deficiency//xanthinuria type 1//hereditary xanthinuria, type i//isolated xanthine oxidase deficiency//xanthinuria type i//xanthinuria, type 1//xanthinuria, type i//xanthinuria, type i; xan1	XDH	XDH	https://raresource.nih.gov/literature/disease/0005621	0005621	278300	93601	C0268118			xanthine dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xanthinuria type I"	0	0	10229
Cerebrotendinous xanthomatosis	bogaert-scherer-epstein disease, van//cerebral cholesterinosis//ctx//ctx - cerebrotendinous xanthomatosis//cerebral cholesterinoses//cerebrotendinous xanthomatoses//cerebrotendinous xanthomatosis//cerebrotendinous cholesterinosis//cholestanol storage disease//cholestanolosis//disease, van bogaert-scherer-epstein//sterol 27-hydroxylase deficiency//van bogaert scherer epstein disease//van bogaert-scherer-epstein disease//xanthomatoses, cerebrotendinous//xanthomatosis, cerebrotendinous//cerebrotendinous xanthomatosis; ctx//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[]=Cerebrotendinous xanthomatosis"	0	0	819
Dehydrated hereditary stomatocytosis	desiccytosis hereditary//hereditary xerocytosis//xerocytosis hereditary//dehydrated hereditary stomatocytosis//hereditary desiccytosis	KCNN4;PIEZO1;SLC4A1	KCNN4;PIEZO1;SLC4A1	https://raresource.nih.gov/literature/disease/0005623	0005623	616689	3202	C0272051			potassium calcium-activated channel subfamily N member 4;piezo type mechanosensitive ion channel component 1;solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dehydrated hereditary stomatocytosis"	0	0	148
Xeroderma pigmentosum variant	photosensitivity with defective dna synthesis//polh-related xeroderma pigmentosum//xeroderma pigmentosum with normal dna repair rates//xpv//xeroderma pigmentosum xp variant//xeroderma pigmentosum, variant type//xeroderma pigmentosum variant//xeroderma pigmentosum variant type//xeroderma pigmentosum, variant type; 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"	0	0	89
Dentatorubral pallidoluysian atrophy	ataxia, chorea, seizures, and dementia//atrophies, dentatorubral-pallidoluysian//atrophy, dentatorubral-pallidoluysian//drpla//drpla - dentatorubropallidoluysian atrophy//dentatorubral-pallidoluysian atrophies//dentatorubral-pallidoluysian atrophy//dentatorubral-pallidoluysian atrophy (drpla)//dentatorubropallidoluysian atrophy//dentatorubropallidoluysian degeneration//haw river syndrome//hrs//haw river syndromes//myoclonic epilepsy with choreoathetosis//naito-oyanagi disease//nod//naito oyanagi disease//naito-oyanagi diseases//river syndromes, haw//dentatorubral pallidoluysian atrophy//dentatorubral-pallidoluysian atrophy; drpla	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"	0	0	1627
Cardiomyopathy, dilated, 1e	cardiomyopathy, dilated, with conduction defect 2//cardiomyopathy, dilated, with conduction disorder and arrhythmia//cdcd2//cmd1e//cardiomyopathy//cardiomyopathy dilated with conduction defect type 2//scn5a familial isolated dilated cardiomyopathy//scn5a-associated dilated cardiomyopathy//scn5a-related dilated cardiomyopathy//cardiomyopathy, dilated, 1e//cardiomyopathy, dilated, 1e; cmd1e//cardiomyopathy, dilated, type 1e//dilated//dilated cardiomyopathy 1e//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//with conduction defect 2//with conduction disorder and arrhythmia	SCN5A	SCN5A	https://raresource.nih.gov/literature/disease/0005644	0005644			C1832680			sodium voltage-gated channel alpha subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiomyopathy, dilated, 1e"	0	0	1095
Gliosarcoma	glioblastoma with sarcomatous component//glioma, sarcomatous//gliomas, sarcomatous//gliosarcomas//sarcomatous glioma//sarcomatous gliomas//sarcomatous glioblastoma//glioblastoma with a sarcomatous component//gliosarcoma	MGMT;LZTR1;IDH1;FGFR3;TACC3;TACC1;FGFR1;SEPTIN14;EGFR;TP53;PPARG;NFKBIA	MGMT;LZTR1;IDH1;FGFR3;TACC3;TACC1;FGFR1;SEPTIN14;EGFR;TP53;PPARG;NFKBIA	https://raresource.nih.gov/literature/disease/0005653	0005653		251576	C0206726			O-6-methylguanine-DNA methyltransferase;leucine zipper like transcription regulator 1;isocitrate dehydrogenase (NADP(+)) 1;fibroblast growth factor receptor 3;transforming acidic coiled-coil containing protein 3;transforming acidic coiled-coil containing protein 1;fibroblast growth factor receptor 1;septin 14;epidermal growth factor receptor;tumor protein p53;peroxisome proliferator activated receptor gamma;NFKB inhibitor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gliosarcoma"	0	0	813
Alveolar soft tissue sarcoma	asps//adult alveolar soft part sarcoma//adult alveolar soft-part sarcoma//alveolar soft part sarcoma//alveolar soft-part sarcoma//alveolar soft part sarcoma (disease)//sarcoma, alveolar soft part//alveolar soft part sarcoma; asps//alveolar soft tissue sarcoma//alveolar soft-tissue sarcoma	ASPSCR1;TFE3	ASPSCR1;TFE3	https://raresource.nih.gov/literature/disease/0005654	0005654	606243	163699	C0206657	D018234		ASPSCR1 tether for SLC2A4, UBX domain containing;transcription factor binding to IGHM enhancer 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alveolar soft tissue sarcoma"	0	0	908
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	11 beta hydroxylase deficiency//11-beta-hydroxylase deficiency//11-alpha beta-hydroxylase deficiency//11-beta-hydroxylase-deficient congenital adrenal hyperplasia//11b hydroxylase deficiency//adrenal hyperplasia iv//adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency//adrenal hyperplasia, hypertensive form//adrenal hyperplasia 4//adrenal hyperplasia hypertensive form//adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency//adrenogenital disorder due to 11-beta-hydroxylase deficiency//cah - 11 beta-hydroxylase deficiency//cah due to 11-beta-hydroxylase deficiency//cyp11b1//cyp11b1 deficiency//congenital adrenal hyperplasia type 4//congenital adrenal hyperplasia, type 3//deficiency of steroid 11-beta-hydroxylase//deficiency of steroid 11-beta-monooxygenase//hypertensive congenital adrenal hyperplasia//hypertensive form of adrenal hyperplasia//p450c11b1 deficiency//steroid 11-beta-hydroxylase deficiency//steroid 11 beta hydroxylase deficiency//steroid 11-beta-monooxygenase deficiency//congenital adrenal hyperplasia due to 11-beta-hydroxylase 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[]=Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	0	0	173
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	17 beta hsd3 deficiency//17 beta-hydroxysteroid dehydrogenase deficiency//17 alpha ksr deficiency//17 alpha ketosteroid reductase deficiency of testis//17 beta hydroxysteroid dehydrogenase iii deficiency//17-@beta hydroxysteroid dehydrogenase iii deficiency//17-beta hydroxysteroid dehydrogenase iii deficiency//17-beta hydroxysteroid dehydrogenase 3 deficiency//17-hydroxysteroid dehydrogenase deficiency//17-ketosteroid reductase deficiency of testis//17-ksr deficiency//17-ketosteroid reductase deficiency//17-beta-hydroxysteroid dehydrogenase 3 deficiency//17-ketoreductase deficiency//17-ketosteroidreductase deficiency//17b-hsd deficiency//male pseudoherma-phroditism with gynecomastia//male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency//male pseudohermaphroditism with gynecomastia//neutral 17-beta-hydroxysteroid oxidoreductase deficiency//neutral 17 beta hydroxysteroid oxidoreductase deficiency//neutral 17 beta-hydroxysteroid oxidoreductase deficiency//polycystic ovary syndrome due to 17-ketosteroid reductase deficiency//pseudohermaphroditism, male, with gynecomastia//testosterone 17-beta-dehydrogenase deficiency//polycystic ovarian disease due to 17-ketosteroid reductase deficiency	HSD17B3	HSD17B3	https://raresource.nih.gov/literature/disease/0005659	0005659	264300	752	C0268296			hydroxysteroid 17-beta dehydrogenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"	0	0	55
D-2-hydroxyglutaric aciduria	d-2(oh) glutaric aciduria//d-2-hga//d-2-hydroxyglutaric acidemia//d-2-hydroxyglutaric aciduria 1//d-2-hydroxyglutaric aciduria 1; d2hga1//d-2-hydroxyglutaric aciduria caused by mutation in d2hgdh//d-2-hydroxyglutaric aciduria type 1//d2ha//d2hga//d2hga1//d2hgdh d-2-hydroxyglutaric aciduria	IDH2;D2HGDH	IDH2;D2HGDH	https://raresource.nih.gov/literature/disease/0005661	0005661	613657	79315				isocitrate dehydrogenase (NADP(+)) 2;D-2-hydroxyglutarate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=D-2-hydroxyglutaric aciduria"	0	0	79
3-methylglutaconic aciduria type 3	3-@methylglutaconic aciduria, type iii//3-alpha methylglutaconic aciduria type iii//3-methylglutaconic aciduria caused by mutation in opa3//3-methylglutaconic aciduria type iii//3-methylglutaconic aciduria, type 3//3-methylglutaconic aciduria, type iii//3-methylglutaconic aciduria, type iii; mgca3//autosomal recessive optic atrophy plus syndrome//autosomal recessive optic atrophy type 3//costeff syndrome//costeff optic atrophy syndrome//iraqi-jewish 'optic atrophy plus'//infantile optic atrophy with chorea and spastic paraplegia//iraqi jewish optic atrophy plus//iraqi-jewish optic atrophy plus//mga type iii//mga, type iii//mga, type 3//mga3//mgca3//opa3 3-methylglutaconic aciduria//opa3 defect//opa3, autosomal recessive//opa3-related 3-methylglutaconic aciduria//optic atrophy 3, autosomal recessive//optic atrophy plus syndrome//optic atrophy, infantile, with chorea and spastic paraplegia//optic atrophy 3//optic atrophy infantile with chorea and spastic paraplegia	MICOS13;OPA3	MICOS13;OPA3	https://raresource.nih.gov/literature/disease/0005663	0005663	258501	67047	C0574084	C535311		mitochondrial contact site and cristae organizing system subunit 13;outer mitochondrial membrane lipid metabolism regulator OPA3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria type 3"	0	0	29
3C syndrome	ccc dysplasia//cranio-cerebello-cardiac dysplasia//cranio-cerebello-cardiac dysplasia syndrome//craniocerebellocardiac dysplasia//dandy-walker like malformation with atrioventricular septal defect//dandy-walker-like malformation with asd//dandy-walker-like malformation with atrioventricular septal defect//rtsc1//ritscher schinzel syndrome//ritscher-schinzel syndrome//ritscher-schinzel cranio-cerebello-cardiac syndrome	WASHC5;CCDC22	WASHC5;CCDC22	https://raresource.nih.gov/literature/disease/0005666	0005666	619135	7	C0796137	C535313		WASH complex subunit 5;coiled-coil domain containing 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3C syndrome"	0	0	44
3M syndrome	3-m syndrome//3-m syndrome, cul7-related//3-m syndrome caused by mutation in cul7//3-msbn//3@m syndrome//3m syndrome//3m syndrome 1//3m1//cul7 3-m syndrome//dolichospondylic dysplasia//dwarfism tall vertebrae//dwarfism with disproportionately high vertebral bodies//gloomy face syndrome//le merrer syndrome//miller-mckusick-malvaux syndrome//miller-mckusick-malvaux-syndrome//miller-mckusick-malvaux-syndrome (3m syndrome)//short stature and tall vertebrae//three m syndrome//three m syndrome 1//three-m slender-boned nanism//yakut short stature syndrome//dwarfism with tall vertebrae//gloomy face syndrome yakut short stature syndrome, included//three m syndrome 1; 3m1//three m syndrome type 1	CCDC8;OBSL1;CUL7	CCDC8;OBSL1;CUL7	https://raresource.nih.gov/literature/disease/0005667	0005667	614205	2616	C2678312			coiled-coil domain containing 8;obscurin like cytoskeletal adaptor 1;cullin 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3M syndrome"	0	0	100
Hawkinsinuria	4-alpha-hydroxyphenylpyruvate hydroxylase deficiency//4-hppd deficiency//4-hydroxyphenylpyruvic acid dioxygenase deficiency//hwks//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"	0	0	19
46,XX gonadal dysgenesis	46,xx complete gonadal dysgenesis//46,xx ovarian dysgenesis//46,xx pure gonadal dysgenesis//fsh-ro//follicular stimulating hormone-resistant ovaries//hypergonadotropic ovarian dysgenesis//xx female gonadal dysgenesis//xx-gd	MRPS22;PSMC3IP;SPIDR;ZSWIM7;NR5A1;NUP107;POLR3H;FSHR;BMP15;BNC1	MRPS22;PSMC3IP;SPIDR;ZSWIM7;NR5A1;NUP107;POLR3H;FSHR;BMP15;BNC1	https://raresource.nih.gov/literature/disease/0005671	0005671	618078	243	C0685837	D023961		mitochondrial ribosomal protein S22;PSMC3 interacting protein;scaffold protein involved in DNA repair;zinc finger SWIM-type containing 7;nuclear receptor subfamily 5 group A member 1;nucleoporin 107;RNA polymerase III subunit H;follicle stimulating hormone receptor;bone morphogenetic protein 15;basonuclin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XX gonadal dysgenesis"	0	0	23
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency//46,xy dsd due to 5-alpha-reductase 2 deficiency//5 alpha steroid reductase 2 deficiency//5-alpha reductase deficiency//familial incomplete male pseudohermaphroditism, type 2//male pseudohermaphroditism due to 5-alpha-reductase deficiency//micropenis//male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency//ppsh//pseudovaginal perineoscrotal hypospadias//steroid 5-alpha-reductase deficiency//steroid 5-alpha-reductase 2 deficiency//pseudovaginal perineoscrotal hypospadias; ppsh	SRD5A2	SRD5A2	https://raresource.nih.gov/literature/disease/0005680	0005680	264600	753	C0268297			steroid 5 alpha-reductase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"	0	0	881
5-oxoprolinase deficiency	5-@oxoprolinase deficiency//5-alpha-oxoprolinase deficiency//5-oxoprolinase deficiency (disease)//5-oxoprolinase deficiency; oplahd//oplahd//oxoprolinuria due to 5-oxoprolinase deficiency//oxoprolinuria due to oxoprolinase deficiency//pyroglutamate hydrolase deficiency//reduced 5-oxoprolinase level//inborn 5-oxoprolinase (atp-hydrolyzing) activity disorder//inborn error of 5-oxoprolinase (atp-hydrolyzing) activity//rare inborn error of 5-oxoprolinase (atp-hydrolyzing) 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"	0	0	16
6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency//6-pyruvoyl-tetrahydrobiopterin synthase deficiency//6-pyruvoyltetrahydropterin synthase deficiency//6-pyruvoyl tetrahydropterin synthase deficiency//6pts - 6-pyruvoyl-tetrahydrobiopterin synthase deficiency//bh4-deficient hyperphenylalaninemia a//bh4-deficient hyperphenylalaninemia type a//hpabh4a//hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency//hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency//hyperphenylalanemia, bh4-deficient, a//hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency//hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency//hyperphenylalaninemia, bh4-deficient, type a//ptpsd//pts deficiency//pts deficiency hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency, included//ptsd//hyperphenylalaninemia, bh4-deficient a//hyperphenylalaninemia, bh4-deficient, a//hyperphenylalaninemia, bh4-deficient, a; hpabh4a//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-tetrahydropterin synthase deficiency"	0	0	33017
Smith-Lemli-Opitz syndrome	7-dehydrocholesterol reductase deficiencies//7-dehydrocholesterol reductase deficiency//acrodysgenital syndrome, lethal//acrodysgenital syndromes, lethal//deficiencies, 7-dehydrocholesterol reductase//deficiency, 7-dehydrocholesterol reductase//hyperotosis corticalis generalisata familiaris//lethal acrodysgenital syndrome//lethal acrodysgenital syndromes//polydactyly, sex reversal, renal hypoplasia, and unilobar lung//polydactyly, sex reversal, renal hypoplasia, and unilobular lung//rsh slo syndrome//rsh syndrome//rsh syndromes//rsh-slo syndrome//rsh-slo syndromes//rutledge lethal multiple congenital anomaly syndrome//reductase deficiencies, 7-dehydrocholesterol//reductase deficiency, 7-dehydrocholesterol//rutledge friedman harrod syndrome//slo syndrome//slo syndromes//slo syndrome type 1//slos//smith lemli opitz syndrome//smith lemli opitz syndrome, type 2//smith lemli opitz syndrome, type i//smith lemli opitz syndrome, type ii//smith lemli opitz syndrome, type 1//smith-lemli-opitz syndrome, type 1//smith-lemli-opitz syndrome, type 2//smith-lemli-opitz syndrome, type i//smith-lemli-opitz syndrome, type ii//smith-lemli-opitz syndrome type 1//smith-lemli-opitz syndrome; slos//smith-opitz-inborn syndrome//syndrome, lethal acrodysgenital//syndrome, rsh//syndrome, slo//syndromes, rsh//syndromes, slo	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"	0	0	810
Glycogen storage disease due to muscle phosphofructokinase deficiency	deficiencies, muscle phosphofructokinase//deficiencies, pfkm//deficiency, muscle phosphofructokinase//deficiency, pfkm//disease, tarui//disease, tarui's//gsd 7//gsd vii//gsd due to muscle phosphofructokinase deficiency//gsd type 7//gsd type vii//gsd7//gsdvii//glycogen storage disease vii//glycogen storage disease type 7//glycogen storage disease type vii//glycogen storage disease, type 7//glycogen storage disease, type vii//glycogenosis 7//glycogenosis due to muscle phosphofructokinase deficiency//glycogenosis type 7//glycogenosis type vii//muscle phosphofructokinase deficiency//muscle phosphofructokinase deficiencies//pfkm deficiency//pfkm glycogen storage disease//pfkm deficiencies//phosphofructokinase deficiencies, muscle//phosphofructokinase deficiency, muscle//tarui disease//tarui's disease//taruis disease//glycogen storage disease 7//glycogen storage disease vii; gsd7//glycogen storage disease caused by mutation in pfkm//glycogen storage disease due to muscle phosphofructokinase deficiency//phosphofructokinase deficiency//phosphofructokinase myopathy	PFKM	PFKM	https://raresource.nih.gov/literature/disease/0005686	0005686	232800	371	C0017926			phosphofructokinase, muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle phosphofructokinase deficiency"	0	0	143
Refsum disease	adult refsum disease//classic refsum disease//hmsn 4//hmsn iv//hereditary motor and sensory neuropathy type 4//hereditary motor and sensory neuropathy type iv//heredopathia atactica polyneuritiformis//phytanic-coa hydroxylase deficiency	PHYH;PEX7	PHYH;PEX7	https://raresource.nih.gov/literature/disease/0005691	0005691	614879	773	C0034960	D012035		phytanoyl-CoA 2-hydroxylase;peroxisomal biogenesis factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Refsum disease"	0	0	237
Partial androgen insensitivity syndrome	androgen insensitivity, partial, with or without breast cancer//androgen insensitivity syndrome, partial//androgen resistance syndrome, partial//familial incomplete male pseudohermaphroditism, type 1//pais//partial androgen resistance syndrome//pseudohermaphroditism, incomplete male, type i//reifenstein syndrome//reifenstein syndrome, partial//rosewater syndrome//type i familial incomplete male pseudohermaphroditism//androgen insensitivity, partial//androgen insensitivity, partial; pais//incomplete male pseudohermaphroditism//partial androgen insensitivity syndrome	AR	AR	https://raresource.nih.gov/literature/disease/0005692	0005692	312300	90797	C0860159			androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Partial androgen insensitivity syndrome"	0	0	322
Reactive arthritis	arthritides, post-infectious//arthritides, postinfectious//arthritides, reactive//arthritis occurring after infection//arthritis urethritica//arthritis, post infectious//arthritis, post-infectious//arthritis, postinfectious//arthritis, reactive//fiessinger leroy reiter syndrome//fiessinger-leroy disease//fiessinger-leroy-reiter syndrome//pira//polyarthritis enterica//post infectious arthritis//post-infectious arthritides//post-infectious arthritis//post-bacterial arthropathy//post-infectious reactive arthropathy//post-infective arthritis//post-infective arthropathy//postinfectious arthritides//postinfectious arthritis//reactive arthritides//reactive arthritis//reactive arthritis triad//reiter disease//reiter syndrome//reiter's disease//reiter's syndrome//reiters disease//reiters syndrome//urethrooculoarticular syndrome//venereal arthritis//postdysenteric arthropathy	HLA-B	HLA-B	https://raresource.nih.gov/literature/disease/0005693	0005693		29207	C0035012	D016918		major histocompatibility complex, class I, B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reactive arthritis"	0	0	4287
Retinitis pigmentosa	pigmentary retinopathies//pigmentary retinopathy//rp//rp - retinitis pigmentosa//retinopathies, pigmentary//retinopathy, pigmentary//rod-cone dystrophy//tapetoretinal degeneration//tapetoretinal degenerations//pericentral pigmentary retinopathy//retinitis pigmentosa	KIZ;RP1L1;ARHGEF18;IMPG2;POMGNT1;RDH12;ZNF408;TTC8;SPATA7;DHDDS;IFT88;CNGA1;CNGB1;EYS;AHI1;TOPORS;CERKL;KIAA1549;CRB1;CRX;OFD1;FAM161A;ARL2BP;DHX38;PRPF8;PRPF3;TUB;TULP1;USH2A;CLRN1;BEST1;PRPF4;AGBL5;ZNF513;HGSNAT;CFAP418;IFT140;SLC7A14;REEP6;IFT172;SNRNP200;PRCD;ABCA4;PCARE;AHR;FSCN2;GUCA1B;IDH3A;IDH3B;IMPDH1;IMPG1;LRAT;MAK;ARL3;MERTK;NEK2;NR2E3;NRL;PDE6A;PDE6B;PDE6G;PROM1;BBS2;RBP3;PRPH2;RGR;RHO;RLBP1;ROM1;RP1;RP2;RP9;RPE65;RPGR;SAG;SEMA4A;SCAPER;ARL6;CA4;CDHR1;PRPF31;KLHL7;PRPF6	KIZ;RP1L1;ARHGEF18;IMPG2;POMGNT1;RDH12;ZNF408;TTC8;SPATA7;DHDDS;IFT88;CNGA1;CNGB1;EYS;AHI1;TOPORS;CERKL;KIAA1549;CRB1;CRX;OFD1;FAM161A;ARL2BP;DHX38;PRPF8;PRPF3;TUB;TULP1;USH2A;CLRN1;BEST1;PRPF4;AGBL5;ZNF513;HGSNAT;CFAP418;IFT140;SLC7A14;REEP6;IFT172;SNRNP200;PRCD;ABCA4;PCARE;AHR;FSCN2;GUCA1B;IDH3A;IDH3B;IMPDH1;IMPG1;LRAT;MAK;ARL3;MERTK;NEK2;NR2E3;NRL;PDE6A;PDE6B;PDE6G;PROM1;BBS2;RBP3;PRPH2;RGR;RHO;RLBP1;ROM1;RP1;RP2;RP9;RPE65;RPGR;SAG;SEMA4A;SCAPER;ARL6;CA4;CDHR1;PRPF31;KLHL7;PRPF6	https://raresource.nih.gov/literature/disease/0005694	0005694	616469	791	C0035334	D012174		kizuna centrosomal protein;RP1 like 1;Rho/Rac guanine nucleotide exchange factor 18;interphotoreceptor matrix proteoglycan 2;protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-);retinol dehydrogenase 12;zinc finger protein 408;tetratricopeptide repeat domain 8;spermatogenesis associated 7;dehydrodolichyl diphosphate synthase subunit;intraflagellar transport 88;cyclic nucleotide gated channel subunit alpha 1;cyclic nucleotide gated channel subunit beta 1;eyes shut homolog;Abelson helper integration site 1;TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase;ceramide kinase like;KIAA1549;crumbs cell polarity complex component 1;cone-rod homeobox;OFD1 centriole and centriolar satellite protein;FAM161 centrosomal protein A;ADP ribosylation factor like GTPase 2 binding protein;DEAH-box helicase 38;pre-mRNA processing factor 8;pre-mRNA processing factor 3;TUB bipartite transcription factor;TUB like protein 1;usherin;clarin 1;bestrophin 1;pre-mRNA processing factor 4;AGBL carboxypeptidase 5;zinc finger protein 513;heparan-alpha-glucosaminide N-acetyltransferase;cilia and flagella associated protein 418;intraflagellar transport 140;solute carrier family 7 member 14;receptor accessory protein 6;intraflagellar transport 172;small nuclear ribonucleoprotein U5 subunit 200;photoreceptor disc component;ATP binding cassette subfamily A member 4;photoreceptor cilium actin regulator;aryl hydrocarbon receptor;fascin actin-bundling protein 2, retinal;guanylate cyclase activator 1B;isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha;isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta;inosine monophosphate dehydrogenase 1;interphotoreceptor matrix proteoglycan 1;lecithin retinol acyltransferase;male germ cell associated kinase;ADP ribosylation factor like GTPase 3;MER proto-oncogene, tyrosine kinase;NIMA related kinase 2;nuclear receptor subfamily 2 group E member 3;neural retina leucine zipper;phosphodiesterase 6A;phosphodiesterase 6B;phosphodiesterase 6G;prominin 1;Bardet-Biedl syndrome 2;retinol binding protein 3;peripherin 2;retinal G protein coupled receptor;rhodopsin;retinaldehyde binding protein 1;retinal outer segment membrane protein 1;RP1 axonemal microtubule associated;RP2 activator of ARL3 GTPase;RP9 pre-mRNA splicing factor;retinoid isomerohydrolase RPE65;retinitis pigmentosa GTPase regulator;S-antigen visual arrestin;semaphorin 4A;S-phase cyclin A associated protein in the ER;ADP ribosylation factor like GTPase 6;carbonic anhydrase 4;cadherin related family member 1;pre-mRNA processing factor 31;kelch like family member 7;pre-mRNA processing factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinitis pigmentosa"	0	0	11802
Retinopathy of prematurity	fibroplasia, retrolental//fibroplasias, retrolental//prematurity retinopathies//prematurity retinopathy//rlf - retrolental fibroplasia//rop//rop - retinopathy of prematurity//retinopathy of prematurity (disorder)//retrolental fibroplasia//retrolental fibroplasias//retrolental fibroplasia (disorder)//terry syndrome//terry's syndrome//premature retinopathy	FZD4;LRP5;NDP	FZD4;LRP5;NDP	https://raresource.nih.gov/literature/disease/0005695	0005695	133780	90050	C0035344	D012178		frizzled class receptor 4;LDL receptor related protein 5;norrin cystine knot growth factor NDP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinopathy of prematurity"	0	0	8940
Rett syndrome	autism, dementia, ataxia, and loss of purposeful hand use//autism dementia ataxia loss of purposeful hand use syndrome//autism-dementia-ataxia-loss of purposeful hand use syndrome//cerebroatrophic hyperammonemia//cerebroatrophic hyperammonemias//cerebroatrophic hyperammonaemia//classic rett syndrome//hyperammonemia, cerebroatrophic//hyperammonemias, cerebroatrophic//mecp2-related disorders//mrxs13//ppmx//rett dis//rett syndrome, atypical//rett syndrome, preserved speech variant//rett syndrome, zappella variant//retts dis//rts//rts - rett syndrome//rtt//rett disorder//rett syndrome; rtt//rett's disorder//rett's syndrome//rett's disorder (disorder)//retts syndrome//syndrome, rett//syndrome, rett's//x-linked mental retardation, syndromic 13	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"	0	0	766
Axenfeld-Rieger syndrome	anomaly, rieger's//anterior chamber cleavage syndrome//axenfeld anomaly//axenfeld syndrome//axenfeld-rieger anomaly//axenfeld-rieger anomaly with or without cardiac defects and-or sensorineural hearing loss//axenfeld-rieger syndrome//axenfeld-rieger syndrome, type 1//axenfeld-rieger syndrome, type 3//axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities//axenfeld-rieger syndrome caused by mutation in pitx2//axenfeld-rieger syndrome type 1//axenfeld-rieger syndrome, type 1; rieg1//axenfeldt-rieger syndrome//de hauwere syndrome//goniodysgenesis hypodontia//hagedoom syndrome//iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness//iridogoniodysgenesis with somatic anomalies//pitx2 axenfeld-rieger syndrome//rgs//rgs - rieger syndrome//rieg//rieg1//rieger syndrome, type 1//rieger syndrome, type 3//rieger anomaly//rieger syndrome//rieger syndrome type 1//rieger's anomaly//rieger's syndrome	FOXC1;PITX2	FOXC1;PITX2	https://raresource.nih.gov/literature/disease/0005701	0005701	601499	782	C0265341	C535679		forkhead box C1;paired like homeodomain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Axenfeld-Rieger syndrome"	0	0	589
Idiopathic achalasia	achalasia//achalasia (disease)//achalasia cardia//achalasia nos//achalasia of cardia//achalasia of esophagus//achalasia of the esophagus//achalasia of the oesophagus//achalasia, esophageal//achalasia, familial esophageal//achalasias//achalasias, esophageal//cardiospasm//cardiospasms//esophageal achalasias//esophageal achalasia//familial esophageal achalasia//hypertensive lower esophageal sphincter//idiopathic achalasia of esophagus//lack of reflex relaxation of lower esophageal sphincter//lack of reflex relaxation of lower oesophageal sphincter//primary achalasia//idiopathic achalasia	CRLF1;HLA-DQA1;HLA-DQB1;NOS1	CRLF1;HLA-DQA1;HLA-DQB1;NOS1	https://raresource.nih.gov/literature/disease/0005708	0005708	200400	930	C0014848	C536011		cytokine receptor like factor 1;major histocompatibility complex, class II, DQ alpha 1;major histocompatibility complex, class II, DQ beta 1;nitric oxide synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic achalasia"	0	0	6845
Acrocallosal syndrome	acls//acs//absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly//acrocallosal syndromes//acrocallosal syndrome, schinzel type//hallux duplication, postaxial polydactyly, and absence of corpus callosum//jbts12//joubert syndrome 12//joubert syndrome 12/15, digenic//kif7-related joubert syndrome//schinzel acrocallosal syndrome//schinzel syndrome 1//syndrome, acrocallosal//syndromes, acrocallosal//acrocallosal syndrome//acrocallosal syndrome; acls	GLI3;KIF7	GLI3;KIF7	https://raresource.nih.gov/literature/disease/0005721	0005721	200990	36	C0796147			GLI family zinc finger 3;kinesin family member 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrocallosal syndrome"	0	0	17869
Acrodermatitis enteropathica	ae//ae - acrodermatitis enteropathica//aez//acrodermatitis enteropathica, zinc-deficiency type//acrodermatitis enteropathica zinc deficiency type//acrodermatitis enteropathica, zinc deficiency type//brandt syndrome//danbolt-close syndrome//danbolt-closs syndrome//danbolt-cross syndrome//enteropathica//hereditary acrodermatitis enterohepatica//hereditary acrodermatitis enteropathica//inherited zinc deficiency//primary zinc malabsorption//primary zinc malabsorption syndrome//acrodermatitis enteropathica//acrodermatitis enteropathica, zinc-deficiency type; aez//zinc deficiency type	SLC39A4	SLC39A4	https://raresource.nih.gov/literature/disease/0005723	0005723	201100	37	C0221036			solute carrier family 39 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrodermatitis enteropathica"	0	0	751
Acrodysostosis	acrdys1//acrdys2//acrodysostosis 1 with or without hormone resistance//acrodysostosis 2, with or without hormone resistance//acrodysplasia//arkless-graham syndrome//maroteaux-malamut syndrome//nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome//nasal hypoplasia-peripheral dysostosis-mental retardation syndrome//peripheral dysostosis//peripheral dysostosis-nasal hypoplasia-intellectual disability (pnm) syndrome//peripheral dysostosis-nasal hypoplasia-mental retardation (pnm) syndrome//acrodysostosis	PRKAR1A;PDE4D	PRKAR1A;PDE4D	https://raresource.nih.gov/literature/disease/0005724	0005724	101800	950	C0220659	C538179		protein kinase cAMP-dependent type I regulatory subunit alpha;phosphodiesterase 4D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrodysostosis"	0	0	134
Acromegaly	acromegalia//anterior pituitary adenoma syndrome//genetic giant//giant//giantism//gigantism//gigantism, pituitary//growth hormone excess//growth hormone hypersecretion syndrome//hypersecretion syndrome, somatotropin (acromegaly)//hypersecretion syndromes, somatotropin (acromegaly)//hypophyseal gigantism//inappropriate gh secretion syndrome (acromegaly)//inappropriate growth hormone secretion syndrome (acromegaly)//infantile and juvenile forms of acromegaly//marie disease//normal giant//overproduction of growth hormone//pituitary gigantism//pituitary giant//primordial giant//sth hypersecretion syndrome//somatotroph adenoma//somatotropin hypersecretion syndrome (acromegaly)//somatotropin hypersecretion syndromes (acromegaly)//syndrome, somatotropin hypersecretion (acromegaly)//syndromes, somatotropin hypersecretion (acromegaly)//acromegaly	GPR101;AIP	GPR101;AIP	https://raresource.nih.gov/literature/disease/0005725	0005725	102200	963	C0001206	D000172		G protein-coupled receptor 101;aryl hydrocarbon receptor interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acromegaly"	0	0	9921
Congenital isolated ACTH deficiency	acth deficiency, isolated//acth deficiency//acth deficiency, isolated; iad//adrenocorticotropic hormone deficiency//adrenocorticotropic hormone (acth) deficiency//congenital isolated adrenocorticotropic hormone deficiency//corticotropin deficiency//iad//isolated acth deficiency//isolated adrenocorticotropic hormone deficiency//nocturnal frontal lobe epilepsy, autosomal dominant//secondary hypoadrenalism//congenital isolated acth deficiency//congenital isolated adrenocorticotropic hormone deficiency (disease)	TBX19	TBX19	https://raresource.nih.gov/literature/disease/0005727	0005727	201400	199296				T-box transcription factor 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital isolated ACTH deficiency"	0	0	1305
Acute intermittent porphyria	aip//aip - acute intermittent porphyria//acute intermittent porphyria//acute intermittent porphyrias//acute porphyria//acute porphyrias//deaminase deficiencies, porphobilinogen//deaminase deficiency, porphobilinogen//deficiencies, hydroxymethylbilane synthase//deficiencies, pbgd//deficiencies, porphobilinogen deaminase//deficiencies, ups//deficiencies, uroporphyrinogen synthase//deficiency, hydroxymethylbilane synthase//deficiency, pbgd//deficiency, porphobilinogen deaminase//deficiency, ups//deficiency, uroporphyrinogen synthase//hmbs deficiency//hydroxymethylbilane synthase deficiencies//hydroxymethylbilane synthase deficiency//intermittent porphyria, acute//intermittent porphyrias, acute//intermittent acute porphyria//intermittent acute porphyria syndrome//pbgd deficiency//pbgd deficiencies//porc//porphobilinogen deaminase deficiency//porphyria, acute intermittent, nonerythroid variant//porphyria, chester type//porphyria, swedish type//porphobilinogen deaminase deficiencies//porphyria, acute//porphyrias, acute//porphyrias, acute intermittent//porphyrias, swedish type//pyrroloporphyria//swedish type porphyria//swedish type porphyrias//swedish porphyria//synthase deficiencies, hydroxymethylbilane//synthase deficiencies, uroporphyrinogen//synthase deficiency, hydroxymethylbilane//synthase deficiency, uroporphyrinogen//type porphyria, swedish//type porphyrias, swedish//ups deficiency//ups deficiencies//uroporphyrinogen synthase deficiency//uroporphyrinogen synthase deficiencies//porphyria intermittent acute//porphyria, acute intermittent//porphyria, acute intermittent; aip	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"	0	0	3926
Adams-Oliver syndrome	absence defect of limbs, scalp, and skull//aos//aos1//aplasia cutis congenita with terminal transverse limb defects//aplasia cutis congenita, congenital heart defect, and frontonasal cysts//arhgap31 adams-oliver syndrome//adams oliver syndrome//adams-oliver syndrome 1//adams-oliver syndrome 1; aos1//adams-oliver syndrome caused by mutation in arhgap31//aplasia cutis of the scalp//congenital scalp defects with distal limb reduction anomalies//congenital absence of skin on scalp with limb-reduction anomaly//congenital defect of skull and scalp//congenital scalp defects with distal limb anomalies//familial aplasia cutis congenita of the scalp//limb//limb scalp and skull defects//limb, scalp and skull defects//scalp and head syndrome//scalp defect, congenital//scalp defects with ectrodactyly//type 2 aplasia cutis//scalp and skull defects	EOGT;DOCK6;ARHGAP31;NOTCH1;DLL4;RBPJ	EOGT;DOCK6;ARHGAP31;NOTCH1;DLL4;RBPJ	https://raresource.nih.gov/literature/disease/0005739	0005739	100300	974	C0265268	C538225		EGF domain specific O-linked N-acetylglucosamine transferase;dedicator of cytokinesis 6;Rho GTPase activating protein 31;notch receptor 1;delta like canonical Notch ligand 4;recombination signal binding protein for immunoglobulin kappa J region	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adams-Oliver syndrome"	0	0	2345
Severe combined immunodeficiency due to adenosine deaminase deficiency	ada//ada deficiency//ada-scid//adenosine deaminase deficiency, partial//adenosine deaminase deficient severe combined immunodeficiency//adenosine deaminase deficiency//adenosine deaminase-deficient severe combined immunodeficiency disease//agammaglobulinemia, swiss type//bubble boy disease//delayed-late-onset adenosine deaminase deficiency//partial ada deficiency//partial adenosine deaminase deficiency//scid due to ada deficiency//scid due to ada deficiency, delayed onset//scid due to ada deficiency, early-onset//scid due to ada deficiency, late-onset//scid due to absent lymphoid stem cells//scid due to adenosine deaminase deficiency//scid1//severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency//severe combined immunodeficiency (scid) due to absent lymphoid stem cells//severe combined immunodeficiency due to ada deficiency//severe combined immunodeficiency due to absent lymphoid stem cells//severe combined immunodeficiency, alymphocytotic type//swiss type agammaglobulinemia//severe combined immunodeficiency due to adenosine deaminase deficiency	ADA	ADA	https://raresource.nih.gov/literature/disease/0005748	0005748	102700	277	C0268124	C531816		adenosine deaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to adenosine deaminase deficiency"	0	0	875
Familial afibrinogenemia	afibrinogenaemia, congenital//afibrinogenaemias, congenital//afibrinogenemia//afibrinogenemia congenital//afibrinogenemia, congenital//afibrinogenemia, familial//afibrinogenemias//afibrinogenemias, congenital//afibrinogenemias, familial//congenital afibrinogenaemia//congenital afibrinogenaemias//congenital afibrinogenemia//congenital afibrinogenemias//congenital hypofibrinogenemia//congenital hypofibrinogenemias//deficiency, fibrinogen//factor i deficiency//familial afibrinogenemia//familial afibrinogenemias//fibrinogen deficiencies//fibrinogen deficiency//hypofibrinogenemia, congenital//hypofibrinogenemias, congenital	FGG;FGB;FGA	FGG;FGB;FGA	https://raresource.nih.gov/literature/disease/0005761	0005761	202400	98880	C2584774			fibrinogen gamma chain;fibrinogen beta chain;fibrinogen alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial afibrinogenemia"	0	0	864
Alkaptonuria	aku//alcaptonuria//alcaptonurias//alkaptonuric ochronosis//deficiency of homogentisate 1,2-dioxygenase//deficiency of homogentisate oxygenase//homogentisic acid oxidase deficiency//hereditary ochronosis//homogentisate 1,2-dioxygenase deficiency//homogentisic acidura//homogentisicaciduria//ochronosis, hereditary//alkaptonuria//alkaptonuria; aku//deficiency of homogentisicase	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"	0	0	1138
Alpers-Huttenlocher syndrome	ahd//ahs//alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis//alpers progressive infantile poliodystrophy//alpers syndrome//alpers-huttenlocher syndrome//alper disease//alper syndrome//alper's disease//alper's syndrome//alpers disease//alpers huttenlocher syndrome//alpers huttenlocher disease//alpers progressive sclerosing poliodystrophy//alpers' disease//alpers' syndrome//alpers' disease or gray-matter degeneration//balo concentric sclerosis//balo's concentric sclerosis//cerebral sclerosis, diffuse//concentric sclerosis, balo//concentric sclerosis, balo's//diffuse cerebral scleroses//diffuse cerebral sclerosis//diffuse cerebral sclerosis of schilder//diffuse scleroses, myelinoclastic//diffuse sclerosis, myelinoclastic//diffuse cerebral degeneration in infancy//disease, alpers'//disease, schilder//disease, schilder's//encephalitis periaxialis//encephalitis periaxialis concentrica//encephalitis periaxialis diffusa//gray matter degeneration//infantile poliodystrophy//mtdps4a//mitochondrial dna depletion syndrome 4a (alpers type)//myelinoclastic diffuse scleroses//myelinoclastic diffuse sclerosis//neuronal degeneration of childhood with liver disease, progressive//pndc//polg-related disorders//poliodystrophia cerebri//poliodystrophia cerebri progressiva//poliodystrophy//progressive neuronal degeneration of childhood with liver disease//progressive sclerosing poliodystrophies//progressive sclerosing poliodystrophy//progressive cerebral poliodystrophy//progressive neuronal degeneration with liver cirrhosis//schilder disease//schilder's disease//schilders disease//scleroses, balo's concentric//scleroses, myelinoclastic diffuse//sclerosis, diffuse cerebral//sclerosis, myelinoclastic diffuse//spongy glioneuronal dystrophy//sudanophilic cerebral sclerosis//syndrome, alpers//syndrome, alpers-huttenlocher//mitochondrial dna depletion syndrome 4a//mitochondrial dna depletion syndrome 4a (alpers type); mtdps4a//mitochondrial dna depletion syndrome type 4a//progressive sclerosing poliodystrophy (disorder)	POLG	POLG	https://raresource.nih.gov/literature/disease/0005783	0005783	203700	726	C0205710	D002549		DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpers-Huttenlocher syndrome"	0	0	1346
Alpha-1-antitrypsin deficiency	a-1atd//a1ad//a1at deficiency//a1atd//aat//aat deficiency//aatd//alpha-1-antitrypsin def//alpha-1-antitrypsin deficiency; a1atd//alpha 1 antitrypsin deficiency//alpha-1 antitrypsin deficiency//alpha-1 protease inhibitor deficiency//alpha-1 related emphysema//alpha-1-antitrypsin deficiency (disorder)//alpha-1-proteinase inhibitor deficiency//alpha1-antitrypsin deficiency//deficiencies, alpha 1-antitrypsin//deficiency, alpha 1-antitrypsin//genetic emphysema//hereditary pulmonary emphysema//inherited emphysema//alpha 1-antitrypsin deficiencies//alpha 1-antitrypsin deficiency//alpha-1-antitrypsin deficiency//deficiency in alpa-1-proteinase inhibitor	SERPINA1	SERPINA1	https://raresource.nih.gov/literature/disease/0005784	0005784	613490	60	C0221757	C531610		serpin family A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-1-antitrypsin deficiency"	0	0	122
Amyotrophic lateral sclerosis	als//als (amyotrophic lateral sclerosis)//als - amyotrophic lateral sclerosis//als amyotrophic lateral sclerosis//als1//amyotrophic lateral sclerosis 1, autosomal dominant//amyotrophic lateral sclerosis 1, autosomal recessive//amyotrophic lateral sclerosis 1, familial//amyotrophic lateral sclerosis, sporadic//amyotrophic sclerosis//amyotrophic lateral sclerosis//amyotrophic lateral sclerosis parkinsonism dementia complex 1//amyotrophic lateral sclerosis with dementia//amyotrophic lateral sclerosis, autosomal dominant//amyotrophic lateral sclerosis, familial//amyotrophic lateral sclerosis, guam form//amyotrophic lateral sclerosis, parkinsonism dementia complex of guam//amyotrophic lateral sclerosis, parkinsonism-dementia complex of guam//amyotrophic lateral sclerosis-parkinsonism-dementia complex 1//amyotrophic lateral sclerosis-parkinsonism/dementia complex 1//amyotrophic lateral sclerosis (disorder)//amyotrophic lateral sclerosis type 1//amyotrophic lateral sclerosis, parkinsonism/dementia complex of guam//amytrophic lateral sclerosis//bulbar motor neuron disease//charcot disease//dementia with amyotrophic lateral sclerosis//disease, guam//disease, lou-gehrigs//fals//gehrigs dis//gehrig disease//gehrig's disease//gehrigs disease//guam disease//guam form of amyotrophic lateral sclerosis//lou gehrig dis//lou gehrigs dis//lateral scleroses, amyotrophic//lou gehrig disease//lou gehrig's disease//lou gehrigs disease//lou-gehrigs disease//mnd//motor neuron dis amyotrophic lateral sclerosis//motor neuron disease, amyotrophic lateral sclerosis//motor neuron disease, bulbar//motor neurone disease//sclerosis, amyotrophic lateral//amyotrophic lateral sclerosis 1//amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included//amyotrophic lateral sclerosis 1; als1//amyotrophic lateral sclerosis, sporadic, included	ANXA11;MATR3;NEFH;NEK1;PFN1;PON1;PON2;PON3;PPARGC1A;PRPH;ATXN2;SOD1;SQSTM1;TAF15;TARDBP;TBK1;UBQLN2;CFAP410;TREM2;UNC13A;CHMP2B;GLT8D1;DAO;DCTN1;EPHA4;ERBB4;FUS;GLE1;ANG;HNRNPA1;VAPB;VCP;CHCHD10;CCNF;FIG4;OPTN	ANXA11;MATR3;NEFH;NEK1;PFN1;PON1;PON2;PON3;PPARGC1A;PRPH;ATXN2;SOD1;SQSTM1;TAF15;TARDBP;TBK1;UBQLN2;CFAP410;TREM2;UNC13A;CHMP2B;GLT8D1;DAO;DCTN1;EPHA4;ERBB4;FUS;GLE1;ANG;HNRNPA1;VAPB;VCP;CHCHD10;CCNF;FIG4;OPTN	https://raresource.nih.gov/literature/disease/0005786	0005786	615515	803	C0002736	D000690		annexin A11;matrin 3;neurofilament heavy chain;NIMA related kinase 1;profilin 1;paraoxonase 1;paraoxonase 2;paraoxonase 3;PPARG coactivator 1 alpha;peripherin;ataxin 2;superoxide dismutase 1;sequestosome 1;TATA-box binding protein associated factor 15;TAR DNA binding protein;TANK binding kinase 1;ubiquilin 2;cilia and flagella associated protein 410;triggering receptor expressed on myeloid cells 2;unc-13 homolog A;charged multivesicular body protein 2B;glycosyltransferase 8 domain containing 1;D-amino acid oxidase;dynactin subunit 1;EPH receptor A4;erb-b2 receptor tyrosine kinase 4;FUS RNA binding protein;GLE1 RNA export mediator;angiogenin;heterogeneous nuclear ribonucleoprotein A1;VAMP associated protein B and C;valosin containing protein;coiled-coil-helix-coiled-coil-helix domain containing 10;cyclin F;FIG4 phosphoinositide 5-phosphatase;optineurin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amyotrophic lateral sclerosis"	0	0	34813
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[]=Alström syndrome"	0	0	312
Otopalatodigital syndrome type 2	andre syndrome//cranioorodigital syndrome//cranio-oro-digital syndrome//faciopalatoosseous syndrome//fpo//opd 2 syndrome//opd ii syndrome//opd syndrome 2//opd syndrome, type 2//opd2//oto-palato-digital syndrome type 2//oto-palato-digital syndrome, type 2//oto-palato-digital syndrome, type ii//otopalatodigital syndrome, type ii//otopalatodigital syndrome type 2//otopalatodigital syndrome type ii//otopalatodigital syndrome, type 2//otopalatodigital syndrome, type ii; opd2//type 2 (andre syndrome)	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[]=Otopalatodigital syndrome type 2"	0	0	37
Isolated aniridia	an//anterior segment mesenchymal dysgenesis//anterior segment ocular dysgenesis//asgd//asgd1//asmd//asod//absent iris//agenesis of iris//aniridia//anterior chamber cleavage defect//anterior chamber cleavage disorder//anterior chamber malformation//anterior chamber mesodermal anomalies//anterior segment developmental abnormality//anterior segment developmental anomaly//anterior segment dysgenesis//anterior segment mesencyhmal dysgenesis//aplasia of iris//congenital aniridia//congenital absence of iris//foxe3-related ocular disorder//familial ocular anterior segment mesenchymal dysgenesis//irideremia//ocular anterior segment dysgenesis//anterior segment dysgenesis 1; asgd1//anterior segment mesenchymal dysgenesis; asmd//corneoiridogoniodysgenesis//goniodysgenesis	TRIM44;FOXC1;PAX6	TRIM44;FOXC1;PAX6	https://raresource.nih.gov/literature/disease/0005816	0005816	617141	250923	C0003076			tripartite motif containing 44;forkhead box C1;paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated aniridia"	0	0	9628
Apert syndrome	acrocephalosyndactyly, type i//acrocephalosyndactyly, type ii//acs//acs 1//acs 2//acs i//acs ii//acs1//apert-crouzon disease//acrocephalo-syndactyly type 1//acrocephalosyndactylia//acrocephalosyndactylias//acrocephalosyndactylies, type 1//acrocephalosyndactylies, type 3//acrocephalosyndactylies, type i//acrocephalosyndactylies, type ii//acrocephalosyndactylies, type iii//acrocephalosyndactylies, type v//acrocephalosyndactyly (apert)//acrocephalosyndactyly iii//acrocephalosyndactyly iiis//acrocephalosyndactyly type 1//acrocephalosyndactyly, type 1//acrocephalosyndactyly, type 3//acrocephalosyndactyly, type iii//acrocephalosyndactyly, type v//acrocephaly, skull asymmetry, and mild syndactyly//apert crouzon disease//apert syndrome//chotzen syndrome//craniofacial-skeletal-dermatologic dysplasia//disease, apert-crouzon//dysostosis craniofacialis with hypertelorism//fgfr2-related craniosynostosis//kurczynski casperson syndrome//noack syndrome//noack syndromes//pfeiffer syndrome//saethre chotzen syndrome//saethre-chotzen syndrome//syndactylic oxycephalies//syndactylic oxycephaly//syndrome, apert//syndrome, chotzen//syndrome, kurczynski casperson//syndrome, noack//syndrome, pfeiffer//syndrome, saethre-chotzen//syndromes, noack//type i acrocephalosyndactylies//type i acrocephalosyndactyly//type ii acrocephalosyndactylies//type ii acrocephalosyndactyly//type iii acrocephalosyndactyly//type v acrocephalosyndactylies//type v acrocephalosyndactyly//vogt cephalodactyly//acrocephalosyndactyly//acrocephalosyndactyly type i//acrocephalosyndactyly, type 2	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0005833	0005833	101200	87	C1510455	D000168		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Apert syndrome"	0	0	19119
Aplasia cutis congenita		ITGB4;BMS1;DLL4;PLEC	ITGB4;BMS1;DLL4;PLEC	https://raresource.nih.gov/literature/disease/0005835	0005835	600360	1114	C0282160	C536840		integrin subunit beta 4;BMS1 ribosome biogenesis factor;delta like canonical Notch ligand 4;plectin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aplasia cutis congenita"	0	0	564
Idiopathic aplastic anemia	aplastic anemia, susceptibility to//anemia aplastic//aplastic anemia//aplastic anemia idiopathic//aplastic anemia, idiopathic//idiopathic bone marrow failure//secondary aplastic anemia//idiopathic aplastic anemia//idiopathic aplastic aplasia	TERT;IFNG;TERC;SBDS;PRF1	TERT;IFNG;TERC;SBDS;PRF1	https://raresource.nih.gov/literature/disease/0005836	0005836	614742	88	C0348890	C538494		telomerase reverse transcriptase;interferon gamma;telomerase RNA component;SBDS ribosome maturation factor;perforin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic aplastic anemia"	0	0	139
Argininemia	arg1 deficiency//arg1 deficiencies//argi deficiency//arginase deficiency//arginase deficiencies//arginase deficiency disease//arginase deficiency diseases//deficiencies, arg1//deficiencies, arginase//deficiency disease, arginase//deficiency diseases, arginase//deficiency of arginase//deficiency, arg1//deficiency, arginase//hyperargininemia//hyperargininemias//argininemia//deficiency of canavanase	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[]=Argininemia"	0	0	271
Argininosuccinic aciduria	argininosuccinase deficiency//argininosuccinate lyase deficiency//argininosuccinic acid lyase deficiency//asa deficiencies//asa deficiency//asal deficiency//asl deficiency//asl deficiencies//acidemia, argininosuccinate//acidemias, argininosuccinate//aciduria, argininosuccinic//acidurias, argininosuccinic//arginino succinase deficiencies//arginino succinase deficiency//argininosuccinate acidemia//argininosuccinate acidemias//argininosuccinate lyase deficiencies//argininosuccinatelyase deficiency//argininosuccinic acidemia//argininosuccinic aciduria//argininosuccinic acidurias//argininosuccinicaciduria//argininosuccinicacidurias//argininosuccinyl-coa lyase deficiency//arginosuccinase deficiency//asauria//deficiencies, asa//deficiencies, asl//deficiencies, arginino succinase//deficiencies, argininosuccinate lyase//deficiency, asa//deficiency, asl//deficiency, arginino succinase//deficiency, argininosuccinate lyase//inborn error of urea synthesis, arginino succinic type//urea cycle disorder, arginino succinase type//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[]=Argininosuccinic aciduria"	0	0	329
Aspartylglucosaminuria	aga deficiency//aga deficiencies//agu//aspartylglucosaminidase deficiency//aspartylglycosaminuria//aspartylglucos-amidase (aga) deficiency//aspartylglucos-aminuria//aspartylglucosamidase (aga) deficiency//aspartylglucosamidase deficiencies//aspartylglucosamidase deficiency//aspartylglucosaminurias//aspartylglycosaminurias//aspartylglycosylaminase deficiency//deficiencies, aga//deficiencies, aspartylglucosamidase//deficiencies, glycoasparaginase//deficiency, aga//deficiency, aspartylglucosamidase//deficiency, glycoasparaginase//glycoasparaginase//glycosylasparaginase deficiency//glycoasparaginase deficiencies//glycoasparaginase deficiency//high urine aspartylglucosamine levels//aspartylglucosaminuria//aspartylglucosaminuria; agu	AGA	AGA	https://raresource.nih.gov/literature/disease/0005854	0005854	208400	93	C2931840	C538402		aspartylglucosaminidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aspartylglucosaminuria"	0	0	271
Anaplastic astrocytoma	anaplastic astrocytoma, nos//anaplastic astrocytoma, not otherwise specified//anaplastic astrocytomas//astrocytoma, anaplastic//astrocytoma, grade iii//astrocytomas, anaplastic//astrocytomas, grade iii//grade iii astrocytomas//grade iii astrocytoma//high-grade astrocytoma//malignant astrocytoma//anaplastic astrocytoma//astrocytoma, anaplastic, malignant//grade iii astrocytic tumor//grade iii astrocytic neoplasm//high-grade astrocytoma, nos	IDH2	IDH2	https://raresource.nih.gov/literature/disease/0005860	0005860		251589	C0334579			isocitrate dehydrogenase (NADP(+)) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anaplastic astrocytoma"	0	0	3481
Ataxia-telangiectasia	a-t//at//at, complementation group a//at, complementation group c//at, complementation group d//at, complementation group e//at1//ata//ataxia-telangiectasia variant//ataxia-telangiectasia, complementation group a//ataxia-telangiectasia, fresno variant//atc//atd//ate//atm//ataxia telangiectasia syndrome//ataxia telangiectasia//ataxia-telangiectasia//ataxia-telangiectasia syndrome//ataxia-telangiectasia, complementation group d//ataxia-telangiectasia, complementation group e//boder-sedgwick syndrome//cerebello-oculocutaneous telangiectasia//immunodeficiency with ataxia telangiectasia//louis-bar syndrome//louis bar syndrome//syndrome, ataxia telangiectasia//syndrome, louis-bar//telangiectasia, cerebello-oculocutaneous//ataxia - telangiectasia//ataxia - telangiectasia variant//ataxia-telangiectasia; at	ATM	ATM	https://raresource.nih.gov/literature/disease/0005862	0005862	208910	100	C0004135	D001260		ATM serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-telangiectasia"	0	0	13266
Alpha-thalassemia-X-linked intellectual disability syndrome	atr-x syndrome	ATRX	ATRX	https://raresource.nih.gov/literature/disease/0005864	0005864	301040	847	C1845055			ATRX chromatin remodeler	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alpha-thalassemia-X-linked intellectual disability syndrome"	0	0	87
Atrial septal defect, ostium secundum type	2 asd - secundum atrial septal defect//asd//asd ii//asd ii - secundum atrial septal defect//asd ostium secundum type//asd, ostium secundum type//asd2 - secundum atrial septal defect//atrial septal defect (ostium secundum type)//atrial septal defect of fossa ovalis//atrial septal defect within oval fossa//atrial septal defect, ostium secundum//atrial septal defect, secundum//fossa ovalis defect//ostium secundum asd//ostium secundum atrial septal defect//ostium secundum defect//ostium secundum type atrial septal defect//patent ostium secundum//secundum atrial septal defect//atrial septal defect, ostium secundum type//osasd//ostium secundum type	ACTC1;TLL1;GATA4;GATA6;MYH6;TBX20;NKX2-5;CITED2	ACTC1;TLL1;GATA4;GATA6;MYH6;TBX20;NKX2-5;CITED2	https://raresource.nih.gov/literature/disease/0005865	0005865	611363	99103	C0344724			actin alpha cardiac muscle 1;tolloid like 1;GATA binding protein 4;GATA binding protein 6;myosin heavy chain 6;T-box transcription factor 20;NK2 homeobox 5;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, ostium secundum type"	0	0	34429
Bannayan-Riley-Ruvalcaba syndrome	brrs//bzs//bannayan riley ruvalcaba syndrome//bannayan zonana syndrome//bannayan syndrome//bannayan-riley-ruvalcaba syndrome; brrs//bannayan-ruvalcaba-riley syndrome//bannayan-zonana syndrome//cowden syndrome 1//macrocephaly multiple lipomas and hemangiomata//macrocephaly pseudopapilledema and multiple hemangiomas//macrocephaly, pseudopapilledema, and multiple hemangiomas//myhre riley smith syndrome//myhre-riley-smith syndrome//riley-smith syndrome//rmss//riley smith syndrome//ruvalcaba -myhre-smith syndrome//ruvalcaba myhre smith syndrome//ruvalcaba-myhre-smith syndrome//ruvalcaba-myhre syndrome//macrocephaly with multiple lipomas and hemangiomas//macrocephaly, multiple lipomas, and hemangiomata//macrocephaly, pseudopapilledema, and multiple hemangiomata	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0005887	0005887	158350	109	C0265326			phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bannayan-Riley-Ruvalcaba syndrome"	0	0	264
Barth syndrome	3 methylglutaconic aciduria, type ii//3 methylglutaconicaciduria type 2//3-methylglutaconic aciduria, type ii//3-methylglutaconic aciduria, type 2//3-methylglutaconicaciduria type 2//3-methylglutaconicaciduria type 2s//3-methylglutaconicaciduria type ii//3-methylglutaconicaciduria type iis//3-methylglutaconic aciduria type 2//3-methylglutaconic aciduria type ii//barth syndrome; bths//bths//cardiomyopathy, dilated, x-linked fatal infantile//cardioskeletal myopathy with neutropenia and abnormal mitochondria//cardioskeletal myopathy-neutropenia//cardioskeletal myopathy-neutropenia syndrome//dilated cardiomyopathy 3a//endomyocardial fibroelastosis//left ventricular noncompaction, isolated, x-linked//left ventricular noncompaction, x-linked//mga type 2//mga type 2s//mga type ii//mga type iis//mga, type ii//mga2//mgca2//mga, type 2//syndrome, barth//taz defect//taz-related dilated cardiomyopathy//type 2, 3-methylglutaconicaciduria//type 2, mga//type 2s, mga//type ii, mga//type iis, mga//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[]=Barth syndrome"	0	0	492
CLN3 disease	batten disease//cln3//cln3 disease, juvenile//cln3 neuronal ceroid lipofuscinosis//classic juvenile ncl//classic juvenile neuronal ceroid lipofuscinosis//jncl//juvenile neuronal ceroid lipofuscinosis//neuronal ceroid lipofuscinosis, juvenile//neuronal ceroid lipofuscinosis 3//spielmeyer-sjogren disease//spielmeyer sjogren disease//vogt-spielmeyer disease//vogt spielmeyer disease//ceroid lipofuscinosis, neuronal, 3//ceroid lipofuscinosis, neuronal, 3; cln3//ceroid lipofuscinosis, neuronal, type 3//neuronal ceroid lipofuscinosis caused by mutation in cln3//neuronal ceroid lipofuscinosis type 3	CLN3	CLN3	https://raresource.nih.gov/literature/disease/0005897	0005897	204200	228346				CLN3 lysosomal/endosomal transmembrane protein, battenin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLN3 disease"	0	0	818
Congenital contractural arachnodactyly	arthrogryposis, distal, type 9//arachnodactyly, contractural beals type//beals syndrome//beal's syndrome//beals-hecht syndrome//cca//cca - congenital contractural arachnodactyly//cca syndrome//contractural arachnodactyly, congenital//contractures, multiple with arachnodactyly//da9//distal arthrogryposis type 9//ear anomalies-contractures-dysplasia of bone with kyphoscoliosis//arthrogryposis, distal, type 9; da9//congenital contractural arachnodactyly	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"	0	0	3588
Becker muscular dystrophy	becker muscular dystrophy//bmd//bmd - becker muscular dystrophy//becker dystrophinopathy//becker's disease//becker's muscular dystrophy//benign congenital myopathy//benign pseudohypertrophic muscular dystrophy//muscular dystrophy, pseudohypertrophic progressive, becker type//muscular dystrophy, becker//muscular dystrophy, becker's//muscular dystrophy pseudohypertrophic progressive, becker type//muscular dystrophy, becker type//muscular dystrophy, becker type; bmd//pseudohypertrophic progressive duchenne and becker types muscular dystrophy	DMD	DMD	https://raresource.nih.gov/literature/disease/0005900	0005900	159050	98895	C0917713			dystrophin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Becker muscular dystrophy"	0	0	2149
Birdshot chorioretinopathy	bscr//birdshot chorioretinopathies//birdshot retinochoroiditides//birdshot retinochoroidopathies//birdshot chorioretinitis//birdshot retinochoroiditis//birdshot retinochoroidopathy//chorioretinitis, birdshot//chorioretinopathy, birdshot//multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk//retinochoroiditis, birdshot//retinochoroidopathy, birdshot//vitiliginous chorioretinitis//vitiliginous choroiditis//birdshot chorioretinopathy	HLA-A	HLA-A	https://raresource.nih.gov/literature/disease/0005926	0005926	605808	179	C1853959	C537630		major histocompatibility complex, class I, A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Birdshot chorioretinopathy"	0	0	422
Blue rubber bleb nevus	bean syndrome//brbn//brbns//blue rubber bleb nevus syndrome//blue rubber bleb nevus	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"	0	0	167
Bowen-Conradi syndrome	bowen hutterite syndrome//bowen hutterite syndrome, formerly//bwcns//bowen hutterite syndrome (formerly)//bowen syndrome//bowen syndrome, hutterite type//bowen-conradi hutterite syndrome//bowen-conradi syndrome; bwcns//hutterite syndrome//hutterite type	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"	0	0	31
Budd-Chiari syndrome	bdchs//budd chiari syndrome//budd-chiari syndrome; bdchs//chiari syndrome//chiari's syndrome//chiaris syndrome//f5-related budd-chiari syndrome//hepatic vein thromboses//hepatic vein thrombosis//hepatic venous outflow obstruction//hepatic vein obstruction//jak2-related budd-chiari syndrome//membranous obstruction of inferior vena cava//movc//membranous obstruction of the inferior vena cava//obstruction of hepatic veins//thromboses, hepatic vein//thrombosis, hepatic vein//vein thromboses, hepatic//vein thrombosis, hepatic	CALR;F5;JAK2	CALR;F5;JAK2	https://raresource.nih.gov/literature/disease/0005968	0005968	600880	131	C0856761	D006502		calreticulin;coagulation factor V;Janus kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Budd-Chiari syndrome"	0	0	3563
Bullous pemphigoid	bp - bullous pemphigoid//benign pemphigus//bullous pemphigoid//bullous pemphigoid (disorder)//old age pemphigus//parapemphigus//pemphigoid//pemphigoid, bullous//pemphigoids//senile dermatitis herpetiformis	HLA-DQB1;HLA-DRB1	HLA-DQB1;HLA-DRB1	https://raresource.nih.gov/literature/disease/0005972	0005972		703	C0030805	D010391		major histocompatibility complex, class II, DQ beta 1;major histocompatibility complex, class II, DR beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bullous pemphigoid"	0	0	44604
Burkitt lymphoma	african lymphoma//bl//bl - burkitt's lymphoma//burkitt cell leukemia//burkitt leukemia//burkitt tumor//burkitt lymphoma/leukaemia//burkitt lymphoma/leukemia//burkitt lymphoma; bl//burkitt's leukemia//burkitt's lymphoma//burkitt's tumor//burkitt's lymphoma (clinical)//burkitt's lymphoma - disorder//burkitt's tumor or lymphoma//burkitt's type malignant lymphoma - small non-cleaved//burkitt's type malignant lymphoma - undifferentiated//burkitts leukemia//burkitts lymphoma//burkitts tumor//diffuse lymphoma//diffuse lymphomas//diffuse mixed cell lymphoma//diffuse mixed small and large cell lymphoma//diffuse mixed-cell lymphoma//diffuse mixed-cell lymphomas//diffuse small cleaved cell lymphoma//diffuse small cleaved-cell lymphoma//diffuse undifferentiated lymphoma//diffuse undifferentiated lymphomas//diffuse non-hodgkin's small cleaved cell (diffuse) lymphoma//familial burkitt's lymphoma//high-grade lymphoma//high-grade lymphomas//intermediate-grade lymphoma//intermediate-grade lymphomas//l3 lymphocytic leukemia//l3 lymphocytic leukemias//lymphoma, non-hodgkin, somatic//leukemia, burkitt//leukemia, burkitt cell//leukemia, burkitt's//leukemia, l3 lymphocytic//leukemia, lymphoblastic, burkitt-type//leukemia, lymphocytic, l3//low-grade lymphoma//low-grade lymphomas//lymphatic sarcoma//lymphatic sarcomas//lymphocytic leukemia, l3//lymphocytic-histiocytic lymphoma, mixed//lymphocytic-histiocytic lymphomas, mixed//lymphoma, african//lymphoma, atypical diffuse small lymphoid//lymphoma, burkitt//lymphoma, burkitt's//lymphoma, diffuse//lymphoma, diffuse mixed-cell//lymphoma, diffuse undifferentiated//lymphoma, diffuse, mixed lymphocytic-histiocytic//lymphoma, high grade//lymphoma, high-grade//lymphoma, intermediate grade//lymphoma, intermediate-grade//lymphoma, low grade//lymphoma, low-grade//lymphoma, mixed//lymphoma, mixed cell//lymphoma, mixed cell, diffuse//lymphoma, mixed lymphocytic histiocytic//lymphoma, mixed lymphocytic-histiocytic//lymphoma, mixed small and large cell, diffuse//lymphoma, mixed-cell//lymphoma, mixed-cell, diffuse//lymphoma, non hodgkin//lymphoma, non hodgkin's//lymphoma, non hodgkins//lymphoma, non-hodgkin//lymphoma, non-hodgkin's//lymphoma, non-hodgkin, familial//lymphoma, non-hodgkins//lymphoma, nonhodgkin//lymphoma, nonhodgkin's//lymphoma, nonhodgkins//lymphoma, pleomorphic//lymphoma, small cleaved cell, diffuse//lymphoma, small cleaved-cell, diffuse//lymphoma, small non cleaved cell//lymphoma, small non-cleaved-cell//lymphoma, small noncleaved cell//lymphoma, small noncleaved-cell//lymphoma, small and large cleaved-cell, diffuse//lymphoma, undifferentiated//lymphoma, undifferentiated, diffuse//lymphosarcomas//malignant lymphoma, non-hodgkin//malignant lymphoma, non-hodgkin's//malignant lymphoma, non-hodgkin's type//malignant lymphoma, small noncleaved, burkitt's, diffuse//mixed cell lymphoma//mixed cell lymphoma, diffuse//mixed lymphocytic-histiocytic lymphoma//mixed lymphocytic-histiocytic lymphomas//mixed lymphoma//mixed lymphomas//mixed small and large cell lymphoma, diffuse//mixed-cell lymphoma//mixed-cell lymphoma, diffuse//mixed-cell lymphomas//nhl//nhl - non-hodgkin's lymphoma//nhl, nos//non hodgkin lymphoma//non hodgkin's lymphoma//non-cleaved-cell lymphoma, small//non-hodgkin lymphoma//non-hodgkin lymphoma (category)//non-hodgkin lymphoma - category//non-hodgkin lymphoma, no icd-o subtype//non-hodgkin lymphoma, no international classification of diseases for oncology subtype//non-hodgkin's lymphoma//non-hodgkin's lymphoma (clinical)//non-hodgkin's lymphoma - disorder//non-hodgkins lymphoma//noncleaved-cell lymphoma, small//nonhodgkin's lymphoma//nonhodgkins lymphoma//pleomorphic lymphoma//pleomorphic lymphomas//reticulosarcoma//reticulosarcomas//reticulum cell sarcoma//reticulum cell sarcomas//reticulum-cell sarcoma//reticulum-cell sarcomas//sarcoma, lymphatic//sarcoma, reticulum cell//sarcoma, reticulum-cell//small cleaved cell lymphoma, diffuse//small cleaved-cell lymphoma, diffuse//small non cleaved cell lymphoma//small non-cleaved-cell lymphoma//small non-cleaved-cell lymphomas//small noncleaved cell lymphoma//small noncleaved-cell lymphoma//small noncleaved-cell lymphomas//small non-cleaved cell lymphoma//tumor, burkitt//tumor, burkitt's//undifferentiated lymphoma//undifferentiated lymphoma, diffuse//undifferentiated lymphomas//malignant lymphoma, burkitt's type//non-hodgkin lymphoma, nos//non-hodgkin's lymphoma (nhl)//small non-cleaved cell lymphoma, burkitt's type	MYC	MYC	https://raresource.nih.gov/literature/disease/0005973	0005973	113970	543	C0079770	D008228		MYC proto-oncogene, bHLH transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Burkitt lymphoma"	0	0	40268
C syndrome	opitz trigonocephaly syndrome//otcs//opitz c trigonocephaly//opitz trigonocephaly c syndrome//trigonocephaly syndrome//trigonocephaly c syndrome	CD96	CD96	https://raresource.nih.gov/literature/disease/0005978	0005978	211750	1308	C0796095			CD96 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C syndrome"	0	0	1275
Carcinoid syndrome	carcinoid tumor syndrome//malignant carcinoid syndrome//carcinoid syndrome//carcinoid tumors, intestinal	SDHD	SDHD	https://raresource.nih.gov/literature/disease/0005994	0005994		100093				succinate dehydrogenase complex subunit D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carcinoid syndrome"	0	0	2258
Caroli disease	caroli disease, isolated//caroli syndrome//caroli disease isolated//caroli's disease//caroli's syndrome//carolis disease//carolis syndrome//congenital dilatation of lobar intrahepatic bile duct//congenital polycystic dilatation of intrahepatic bile ducts//cystic dilatation of the intrahepatic biliary tree//disease, caroli//disease, caroli's//syndrome, caroli's	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"	0	0	847
Carpenter syndrome	acps 2//acps ii//acps2//acrocephalopolysyndactyly type 2//acrocephalosyndactyly, type ii//crpt1//carpenter 's syndrome//carpenter syndrome 1//acrocephalopolysyndactyly type ii//type ii acrocephalopolysyndactyly	RAB23;MEGF8	RAB23;MEGF8	https://raresource.nih.gov/literature/disease/0006003	0006003	614976	65759	C1275078			RAB23, member RAS oncogene family;multiple EGF like domains 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carpenter syndrome"	0	0	96
Caudal regression syndrome	absent sacrum//agenesis of sacrum//caudal dysgenesis syndrome//caudal regression syndrome//caudal dysplasia//caudal dysplasia sequence//caudal regression sequence//congenital absence of sacrum//hypoplasia of sacrum//sacral agenesis syndrome//sdam//sacral agenesis//sacral defect and anterior sacral meningocele//sacral defect anterior meningocele//sacral defect with anterior meningocele//sacral regression syndrome	FUZ;VANGL1	FUZ;VANGL1	https://raresource.nih.gov/literature/disease/0006007	0006007	600145	3027	C0344490			fuzzy planar cell polarity protein;VANGL planar cell polarity protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Caudal regression syndrome"	0	0	5064
Bilateral perisylvian polymicrogyria	cbps//congenital bilateral perisylvian syndrome//pmgx//perisylvian syndrome//perisylvian syndrome, congenital bilateral//polymicrogyria, bilateral perisylvian//bilateral perisylvian polymicrogyria//central bilateral macrogyria	SRPX2;PI4KA;ADGRG1	SRPX2;PI4KA;ADGRG1	https://raresource.nih.gov/literature/disease/0006011	0006011	300388	98889	C1845668			sushi repeat containing protein X-linked 2;phosphatidylinositol 4-kinase alpha;adhesion G protein-coupled receptor G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral perisylvian polymicrogyria"	0	0	390
Central core disease	ccd//cco//cnmdu1//central core disease//central core disease of muscle//central core diseases//central core myopathies//central core myopathy//minicore myopathy, moderate, with hand involvement//multicore myopathy, moderate, with hand involvement//multiminicore disease, moderate, with hand involvement//muscle core disease//muscular central core disease//myopathies, central core//myopathy, central core//myopathy, central fibrillar//neuromuscular disease, congenital, with uniform type 1 fiber//shy magee syndrome//shy-magee syndrome//syndrome, shy-magee//central core disease of muscle; ccd	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0006014	0006014	117000	597	C0751951			ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central core disease"	0	0	1528
Cerebrocostomandibular syndrome	ccm syndrome//ccms//cerebrocostomandibular syndrome; ccms//cerebro-costo-mandibular syndrome//cerebrocostomandibular-like syndrome//rib gap defects with micrognathia//cerebrocostomandibular syndrome	SNRPB	SNRPB	https://raresource.nih.gov/literature/disease/0006026	0006026	117650	1393	C0265342			small nuclear ribonucleoprotein polypeptides B and B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebrocostomandibular syndrome"	0	0	560
COFS syndrome	camfak syndrome//cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome//cofs//cofs syndrome caused by mutation in ercc6//cofs1//cataract-microcephaly-failure to thrive-kyphoscoliosis//cerebro-oculo-facio-skeletal syndrome//cerebro-oculo-facio-skeletal syndrome 1//cerebrooculofacioskeletal syndrome//cofs syndrome//ercc6 cofs syndrome//pena shokeir syndrome type 2//pena-shokeir syndrome, type ii//pena-shokeir syndrome type 2//pena-shokeir syndrome, type 2//cerebrooculofacioskeletal syndrome 1//cerebrooculofacioskeletal syndrome type 1	ERCC6;ERCC2;ERCC5;ERCC1	ERCC6;ERCC2;ERCC5;ERCC1	https://raresource.nih.gov/literature/disease/0006027	0006027	610756	1466	C2931277			ERCC excision repair 6, chromatin remodeling factor;ERCC excision repair 2, TFIIH core complex helicase subunit;ERCC excision repair 5, endonuclease;ERCC excision repair 1, endonuclease non-catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COFS syndrome"	0	0	75
Chédiak-Higashi syndrome	beguez cesar disease//béguez césar disease//chs//chc)diak-higashi disease//chc)diak-higashi-steinbrink syndrome//chediak - steinbrinck anomaly//chediak higashi syndrome//chediak steinbrinck higashi syndrome//chediak anomaly//chediak-higashi syndrome//chediak-higashi syndrome; chs//chediak-steinbrinck anomaly//chediak-steinbrinck-higashi syndrome//chediak-steinbrinck-higashi syndromes//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//oculocutaneous albinism with leukocyte defect//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"	0	0	2008
Cherubism	crbm//familial benign giant-cell tumor of the jaw//familial fibrous dysplasia of jaw//familial multilocular cystic disease of the jaws//fibrous dysplasia of jaw//cherubism//familial fibrous dysplasia 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[]=Cherubism"	0	0	503
CHILD syndrome	child syndrome//child nevus//congenital hemidysplasia with ichthyosiform nevus and limb defects//congenital hemidysplasia with ichthyosiform nevus and limbs defects//ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs//ichthyosis, child syndrome//congenital hemidysplasia with ichthyosiform erythroderma and limb defects	NSDHL	NSDHL	https://raresource.nih.gov/literature/disease/0006039	0006039	308050	139	C0265267			NAD(P) dependent steroid dehydrogenase-like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHILD syndrome"	0	0	152
Chondrocalcinosis 1	calcium pyrophosphate dihydrate deposition disease 1//ccal1//chondrocalcinosis with early-onset osteoarthritis//cppdd1//chondrocalcinosis 1//chondrocalcinosis 1; ccal1	CCAL1	CCAL1	https://raresource.nih.gov/literature/disease/0006048	0006048			C1833499			Chondrocalcinosis 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrocalcinosis 1"	0	0	None
Rhizomelic chondrodysplasia punctata type 1	cdpr//chondrodysplasia punctata, rhizomelic form//chondrodystrophia calcificans punctata//chondrodysplasia punctata rhizomelic form//pbd9//peroxisome biogenesis disorder 9//pex7 rhizomelic chondrodysplasia punctata//rcdp1//rhizomelic chondrodysplasia punctata caused by mutation in pex7//rhizomelic chondrodysplasia punctata type 1//rhizomelic chondrodysplasia punctata, type 1//rhizomelic chondrodysplasia punctata, type 1; rcdp1	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"	0	0	20
Chondrosarcoma	chondrosarcoma morphology//chondrosarcoma, no icd-o subtype//chondrosarcoma, no international classification of diseases for oncology subtype//chondrosarcoma, somatic//chondrosarcomas//fibrochondrosarcoma//chondrosarcoma//chondrosarcoma (disease)//chondrosarcoma of bone//chondrosarcoma, malignant//primary chondrosarcoma of the bone	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"	0	0	6257
Choroideremia	chm//choroidal sclerosis//choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina)//choroideremias//dystrophies, progressive tapetochoroidal//dystrophy, progressive tapetochoroidal//progressive tapetochoroidal dystrophies//progressive tapetochoroidal dystrophy//tapetochoroidal dystrophy, progressive//tcd//tapetochoroidal dystrophies, progressive//tapetochoroidal dystrophy//choroideremia//choroideremia; chm//progressive choroidal atrophy	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"	0	0	1065
Chromophobe renal cell carcinoma	chrcc//crcc//chromophobe adenocarcinoma//chromophobe carcinoma//chromophobe carcinoma of kidney//chromophobe cell renal carcinoma//chromophobe renal cell adenocarcinoma//renal cell carcinoma, chromophobe//renal carcinoma, chromophobe, somatic//chromophobe carcinoma of the kidney//chromophobe cell carcinoma of kidney//chromophobe cell carcinoma of the kidney//chromophobe renal cell cancer//chromophobe renal cell carcinoma//kidney chromophobe//renal cell carcinoma, chromophobe cell//renal cell carcinoma, chromophobe type	HNF1A	HNF1A	https://raresource.nih.gov/literature/disease/0006064	0006064		319303	C1266042			HNF1 homeobox A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chromophobe renal cell carcinoma"	0	0	840
1p36 deletion syndrome	1p telomere deletion syndrome//1p36//1p36 deletion syndrome//1p36 microdeletion syndrome//1p36.33 deletion//chromosome 1, 1p36 deletion syndrome//chromosome 1p36 deletion syndrome//del(1)(p36)//deletion 1p36//deletion 1p36.33//deletion 1pter//distal monosomy 1p36//monosomy 1p36 syndrome//monosomy 1p36//monosomy 1pter//subtelomeric 1p36 deletion	PRDM16;GABRD;PDPN;CASZ1;SPEN;RERE;SKI;UBE4B;PRKCZ;MMP23B;KCNAB2;HSPG2;LUZP1	PRDM16;GABRD;PDPN;CASZ1;SPEN;RERE;SKI;UBE4B;PRKCZ;MMP23B;KCNAB2;HSPG2;LUZP1	https://raresource.nih.gov/literature/disease/0006082	0006082	616975	1606	C1842870			PR/SET domain 16;gamma-aminobutyric acid type A receptor subunit delta;podoplanin;castor zinc finger 1;spen family transcriptional repressor;arginine-glutamic acid dipeptide repeats;SKI proto-oncogene;ubiquitination factor E4B;protein kinase C zeta;matrix metallopeptidase 23B;potassium voltage-gated channel subfamily A regulatory beta subunit 2;heparan sulfate proteoglycan 2;leucine zipper protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=1p36 deletion syndrome"	0	0	129
Chronic granulomatous disease	autosomal recessive chronic granulomatous disease//bridges-good syndrome//cgd//cgd - chronic granulomatous disease//chronic granulomatous disease//chronic granulomatous disease, atypical//chronic granulomatous disease, x linked//chronic granulomatous disease, x-linked//chronic granulomatous diseases//chronic granulomatous disease (disorder)//chronic septic granulomatosis//congenital dysphagocytosis//congenital dysphagocytosis (disorder)//cytochrome b-negative granulomatous disease, chronic, x-linked//cytochrome b-positive granulomatous disease, chronic, x-linked//disease, chronic granulomatous//diseases, chronic granulomatous//granulomatous dis chronic//granulomatous disease, chronic//granulomatous disease, chronic, x-linked//granulomatous disease, chronic, x-linked, variant//granulomatous diseases, chronic//quie syndrome//x linked chronic granulomatous disease//x-linked chronic granulomatous disease//chronic granulomatous disorder	NCF4;CYBA;CYBB;CYBC1;NCF1;NCF2	NCF4;CYBA;CYBB;CYBC1;NCF1;NCF2	https://raresource.nih.gov/literature/disease/0006100	0006100	306400	379	C0018203	D006105		neutrophil cytosolic factor 4;cytochrome b-245 alpha chain;cytochrome b-245 beta chain;cytochrome b-245 chaperone 1;neutrophil cytosolic factor 1;neutrophil cytosolic factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic granulomatous disease"	0	0	465
B-cell chronic lymphocytic leukemia	b cell chronic lymphocytic leukemia//b cell leukemia, chronic//b cell malignancy, low grade//b lymphocytic leukemia, chronic//b cell cll//b cell lymphocytic leukemia//b-cll//b-cll - b-cell chronic lymphocytic leukemia//b-cell chronic lymphocytic leukemia//b-cell leukemia, chronic//b-cell leukemias, chronic//b-cell malignancies, low-grade//b-cell malignancy, low-grade//b-cell small lymphocytic lymphoma//b-lymphocytic leukemia, chronic//b-lymphocytic leukemias, chronic//b-cell cll//b-cell chronic lymphocytic leukaemia//b-cell chronic lymphocytic leukemia/small lymphocytic lymphoma//b-cell chronic lymphogenous leukemia//b-cell chronic lymphoid leukemia//b-cell lymphocytic leukemia//bcll//cll//cll - chronic lymphocytic leukemia//cll lymphoplasmacytoid lymphoma//cll lymphoplasmacytoid lymphomas//chronic b-cell leukemia//chronic b-cell leukemias//chronic b-cell lymphocytic leukemia//chronic b-lymphocytic leukemia//chronic b-lymphocytic leukemias//chronic lymphatic leukemia//chronic lymphatic leukemias//chronic lymphoblastic leukemia//chronic lymphoblastic leukemias//chronic lymphocytic leukemia//chronic lymphocytic leukemias//chronic lymphatic leukaemia//chronic lymphocytic leukaemia//chronic lymphocytic leukemia, b-cell type//chronic lymphoid leukemia//chronic lymphoid leukemia, disease//diffuse well differentiated lymphocytic lymphoma//diffuse well-differentiated lymphocytic lymphoma//disrupted in b cell malignancy//disrupted in b-cell malignancy//familial chronic lymphocytic leukemia//leukemia, chronic lymphatic//leukemia, b cell, chronic//leukemia, b-cell, chronic//leukemia, chronic b-cell//leukemia, chronic b-lymphocytic//leukemia, chronic lymphocytic//leukemia, chronic lymphocytic, b-cell//leukemia, lymphoblastic, chronic//leukemia, lymphocytic, chronic//leukemia, lymphocytic, chronic, b cell//leukemia, lymphocytic, chronic, b-cell//leukemias, chronic b-cell//leukemias, chronic b-lymphocytic//leukemias, chronic lymphatic//leukemias, chronic lymphoblastic//low-grade b-cell malignancies//low-grade b-cell malignancy//lymphatic leukemia, chronic//lymphatic leukemias, chronic//lymphoblastic leukemia, chronic//lymphoblastic leukemias, chronic//lymphocytic leukemia, chronic//lymphocytic leukemia, chronic, b cell//lymphocytic leukemia, chronic, b-cell//lymphocytic leukemias, chronic//lymphocytic lymphoma//lymphocytic lymphoma, diffuse, well differentiated//lymphocytic lymphoma, diffuse, well-differentiated//lymphocytic lymphoma, small//lymphocytic lymphoma, well differentiated//lymphocytic lymphoma, well-differentiated//lymphocytic lymphomas//lymphocytic lymphomas, small//lymphocytic lymphomas, well-differentiated//lymphocytic lymphosarcoma//lymphoma, cll lymphoplasmacytoid//lymphoma, lymphocytic//lymphoma, lymphocytic, diffuse, well differentiated//lymphoma, lymphocytic, diffuse, well-differentiated//lymphoma, lymphocytic, well differentiated//lymphoma, lymphocytic, well-differentiated//lymphoma, lymphoplasmacytoid, cll//lymphoma, small cell//lymphoma, small lymphocytic//lymphoma, small lymphocytic, plasmacytoid//lymphoma, small-cell//lymphoma, well-differentiated lymphocytic//lymphomas, cll lymphoplasmacytoid//lymphomas, lymphocytic//lymphomas, small lymphocytic//lymphomas, small-cell//lymphomas, well-differentiated lymphocytic//lymphoplasmacytoid lymphoma, cll//lymphoplasmacytoid lymphomas, cll//malignancies, low-grade b-cell//malignancy, low-grade b-cell//malignant lymphoma - small cell//malignant lymphoma - small lymphocytic//malignant lymphoma, lymphocytic//malignant lymphoma, lymphocytic, diffuse//malignant lymphoma, lymphocytic, well differentiated//malignant lymphoma, lymphocytic, well differentiated, diffuse//malignant lymphoma, small b lymphocytic//malignant lymphoma, small cell//malignant lymphoma, small cell diffuse//malignant lymphoma, small lymphocytic//malignant lymphoma, small lymphocytic, diffuse//sll//small b-cell lymphocytic lymphoma//small cell lymphoma//small lymphocytic lymphoma//small lymphocytic lymphomas//small-cell lymphoma//small-cell lymphomas//well-differentiated lymphocytic lymphoma//well-differentiated lymphocytic lymphomas//chronic lymphocytic leukemia (cll)//chronic lymphocytic leukemia, nos//chronic lymphogenous leukemia//hematopoeitic - chronic lymphocytic leukemia (cll)//leukemia, chronic lymphocytic; cll//lymphoplasmacytic leukaemia//lymphoplasmacytic leukemia	CCND1;P2RX7;RPS15;TP53;IKZF3;POT1;ARL11;IGHG1;IGHV3-21;ATM	CCND1;P2RX7;RPS15;TP53;IKZF3;POT1;ARL11;IGHG1;IGHV3-21;ATM	https://raresource.nih.gov/literature/disease/0006104	0006104	151400	67038	C0023434	D015451		cyclin D1;purinergic receptor P2X 7;ribosomal protein S15;tumor protein p53;IKAROS family zinc finger 3;protection of telomeres 1;ADP ribosylation factor like GTPase 11;immunoglobulin heavy constant gamma 1 (G1m marker);immunoglobulin heavy variable 3-21;ATM serine/threonine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B-cell chronic lymphocytic leukemia"	0	0	27750
Chronic myeloid leukemia	acml//bcr-abl positive chronic myelogenous leukemia//cgl//cgl - chronic granulocytic leukemia//cml//cml - chronic myeloid leukemia//cml - chronic myelogenous leukemia//chronic myeloid leukemia//chronic granulocytic leukemia//chronic myelocytic leukaemia//chronic myelocytic leukemia//chronic myelogenous leukaemia//chronic myelogenous leukemia//chronic myelogenous leukemia with crisis of blast cells//chronic myelogenous leukemia, philadelphia chromosome (ph1) positive//chronic myelogenous leukemia, no icd-o subtype//chronic myelogenous leukemia, no international classification of diseases for oncology subtype//chronic myelogenous leukemia, t(9;22) (q34;q11)//chronic myeloid leukaemia//chronic myeloid leukemia, disease//familial chronic myelocytic leukemia//leukemia, chronic myelogenous//leukemia, chronic myeloid, atypical//leukemia, philadelphia chromosome-positive, resistant to imatanib//leukemia, chronic myeloid//myeloid leukemia, chronic//chronic granulocytic leukaemia//chronic myelogenous leukemia (cml)//chronic myelogenous leukemia, bcr-abl1 positive//chronic myelogenous leukemias//hematopoeitic - chronic myelocytic leukemia (cml)//leukemia, chronic myeloid; cml	RUNX1;BCR;ABL1	RUNX1;BCR;ABL1	https://raresource.nih.gov/literature/disease/0006105	0006105	608232	521	C0023473			RUNX family transcription factor 1;BCR activator of RhoGEF and GTPase;ABL proto-oncogene 1, non-receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic myeloid leukemia"	0	0	30489
Cleidocranial dysplasia	ccd//ccd - cleidocranial dysplasia//clcd//clcd - cleidocranial dysplasia//cleidocranial dysostosis//cleidocranial dysplasia, forme fruste, dental anomalies only//cleidocranial dysplasia, forme fruste, with brachydactyly//cleidocranial digital dysostoses//cleidocranial digital dysostosis//cleidocranial dysostoses//cleidocranial dysplasia//cleidocranial dysplasias//craniocleidodysostosis//dysostoses, cleidocranial//dysostoses, cleidocranial digital//dysostosis, cleidocranial//dysostosis, cleidocranial digital//dysplasia cleidocranial//dysplasia, cleidocranial//dysplasias, cleidocranial//marie sainton syndrome//marie-sainton disease//marie-sainton syndrome//scheuthauer marie sainton syndrome//scheuthauer-marie-sainton syndrome//syndrome, marie-sainton//syndrome, scheuthauer-marie-sainton//cleidocranial dysplasia; ccd	RUNX2	RUNX2	https://raresource.nih.gov/literature/disease/0006118	0006118	216330	1452	C0008928	D002973		RUNX family transcription factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cleidocranial dysplasia"	0	0	1804
Coats disease	coat disease//coats disease//coats syndrome//coats' disease//coats' syndrome//congenital retinal telangiectasia//exudative retinopathy//leber miliary aneurysm//leber's miliary aneurysms//miliary aneurysms of retina//retinal telangiectasis//retinal telangiectases//telangiectases, retinal//telangiectasis, retinal	NDP	NDP	https://raresource.nih.gov/literature/disease/0006121	0006121	300216	190	C0154832	D058456		norrin cystine knot growth factor NDP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coats disease"	0	0	765
Coffin-Lowry syndrome	cls//cls - coffin-lowry syndrome//coffin-lowry syndrome, mild//coffin-lowry syndrome; cls//coffin lowry syndrome//coffin syndrome//coffin syndrome 1//dwarfism, lean spastic type//lean spastic dwarfism//mental retardation with osteocartilaginous abnormalities//syndrome, coffin//syndrome, coffin-lowry//intellectual disability with osteocartilaginous abnormalities	RPS6KA3	RPS6KA3	https://raresource.nih.gov/literature/disease/0006123	0006123	303600	192	C0265252	D038921		ribosomal protein S6 kinase A3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Lowry syndrome"	0	0	547
Coffin-Siris syndrome	css//dwarfism-onychodysplasia//fifth digit syndrome//hhid//hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features//intellectual disability with absent fifth fingernail and terminal phalanx//mental retardation with absent fifth fingernail and terminal phalanx//short stature-onychodysplasia.	SMARCA4;SOX4;DPF2;ARID1B;ARID2;SOX11;SMARCD1;SMARCE1;ARID1A;SMARCC2;SMARCB1	SMARCA4;SOX4;DPF2;ARID1B;ARID2;SOX11;SMARCD1;SMARCE1;ARID1A;SMARCC2;SMARCB1	https://raresource.nih.gov/literature/disease/0006124	0006124	614608	1465	C0265338	C536436		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4;SRY-box transcription factor 4;double PHD fingers 2;AT-rich interaction domain 1B;AT-rich interaction domain 2;SRY-box transcription factor 11;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1;AT-rich interaction domain 1A;SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Coffin-Siris syndrome"	0	0	1368
Cohen syndrome	chs1, formerly//coh//coh1//chs1//cohen syndrome; coh1//cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness//hypotonia, obesity, and prominent incisors//mirhosseini-holmes-walton syndrome//norio syndrome//obesity-hypotonia syndrome//pepper syndrome//prominent incisors-obesity-hypotonia syndrome//retinopathy, pigmentary, and mental retardation	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"	0	0	361
Common variable immunodeficiency	antibody deficiency due to icos defect//acquired hypogammaglobulinemia//acquired hypogammaglobulinemias//acquired hypogammaglobulinaemia//common variabl immunodef//common variable immunodefic//cvag//cvi - common variable immunodeficiency//cvid//cvid - common variable immunodeficiency//cvid1//common variable hypogammaglobulinemia//common variable hypogammaglobulinemias//common variable immune deficiency//common variable immunodeficiencies//common variable agammaglobulinaemia//common variable agammaglobulinemia//common variable agammaglobulinemia (disorder)//common variable hypogamma-globulinemia//common variable hypogammaglobulinaemia//deficiencies, late-onset immunoglobulin//deficiency, late-onset immunoglobulin//hypogamma-globulinemia, acquired//hypogammaglobulinemia, acquired//hypogammaglobulinemia, common variable//hypogammaglobulinemias, acquired//hypogammaglobulinemias, common variable//immunodefic common variable//immunodeficiency, common variable//idiopathic immunoglobulin deficiency//immunodeficiencies, common variable//immunoglobulin deficiencies, late-onset//immunoglobulin deficiency, late onset//immunoglobulin deficiency, late-onset//late onset immunoglobulin deficiency//late-onset immunoglobulin deficiencies//late-onset immunoglobulin deficiency//primary antibody deficiency//primary hypogammaglobulinemia//sporadic hypogammaglobulinemia//variable hypogammaglobulinemia, common//variable hypogammaglobulinemias, common//acquired agammaglobulinemia//common variable immunodeficiency//immunodeficiency, common variable, 1//immunodeficiency, common variable, 1; cvid1//immunodeficiency, common variable, type 1//secondary hypogammaglobulinemia	NFKB2;NFKB1;MS4A1;CD81;IRF2BP2;TNFRSF13B;TNFRSF13C;CD19;TNFSF12;CR2;ICOS;PRKCD	NFKB2;NFKB1;MS4A1;CD81;IRF2BP2;TNFRSF13B;TNFRSF13C;CD19;TNFSF12;CR2;ICOS;PRKCD	https://raresource.nih.gov/literature/disease/0006140	0006140	146830	1572	C0009447	D017074		nuclear factor kappa B subunit 2;nuclear factor kappa B subunit 1;membrane spanning 4-domains A1;CD81 molecule;interferon regulatory factor 2 binding protein 2;TNF receptor superfamily member 13B;TNF receptor superfamily member 13C;CD19 molecule;TNF superfamily member 12;complement C3d receptor 2;inducible T cell costimulator;protein kinase C delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Common variable immunodeficiency"	0	0	2952
Cone-rod dystrophy 2	cone-rod dystrophy//cone-rod retinal dystrophy//cord//cord2//crd//crd2//crx cone-rod dystrophy//cone-rod retinal dystrophy 2//rcrd2//retinal cone-rod dystrophy//retinal cone-rod dystrophy 2//cone rod dystrophy//cone-rod dystrophy 2//cone-rod dystrophy 2; cord2//cone-rod dystrophy caused by mutation in crx//cone-rod dystrophy type 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"	0	0	2960
Hereditary thrombophilia due to congenital antithrombin deficiency	at iii deficiency//at deficiency - antithrombin deficiency//at3d//anti-thrombin iii deficiency//antithrombin 3 deficiencies//antithrombin 3 deficiency//antithrombin iii deficiencies//antithrombin iii deficiency//antithrombin deficiency//congenital at-iii deficiency//congenital antithrombin iii deficiency//decreased antithrombin iii//deficiencies, antithrombin 3//deficiencies, antithrombin iii//deficiency, antithrombin 3//deficiency, antithrombin iii//hereditary antithrombin deficiency//hereditary thrombophilia due to congenital antithrombin 3 deficiency//inherited antithrombin deficiency//reduced antithrombin iii activity//thph7//thrombophilia due to antithrombin iii deficiency//antithrombin iii deficiency; at3d//hereditary thrombophilia due to congenital antithrombin deficiency//thrombophilia due to antithrombin 3 deficiency	SERPINC1	SERPINC1	https://raresource.nih.gov/literature/disease/0006148	0006148	613118	82				serpin family C member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary thrombophilia due to congenital antithrombin deficiency"	0	0	1233
Congenital fiber-type disproportion myopathy	acta1-related congenital fiber-type disproportion//cftd//cftdm//congenital fiber-type disproportion//congenital fiber-type disproportions//congenital fiber type disproportion//disproportion, congenital fiber-type//disproportions, congenital fiber-type//fiber-type disproportion myopathy, congenital//fiber type disproportion myopathy, congenital//fiber type disproportion//fiber-type disproportion, congenital//fiber-type disproportions, congenital//fiber-type disproportion//myopathy, congenital with fiber-type disproportion//ryr1-related congenital fiber-type disproportion//tpm3-related congenital fiber-type disproportion//congenital fiber-type disproportion myopathy//congenital myopathy with fiber type disproportion//congenital myopathy with fibre type disproportion//myopathy, congenital, with fiber-type disproportion//myopathy, congenital, with fiber-type disproportion; cftd	MAP3K20;MYL2;ITGA7;HACD1;SELENON;TPM3;ACTA1;TPM2	MAP3K20;MYL2;ITGA7;HACD1;SELENON;TPM3;ACTA1;TPM2	https://raresource.nih.gov/literature/disease/0006161	0006161	617760	2020	C0546264			mitogen-activated protein kinase kinase kinase 20;myosin light chain 2;integrin subunit alpha 7;3-hydroxyacyl-CoA dehydratase 1;selenoprotein N;tropomyosin 3;actin alpha 1, skeletal muscle;tropomyosin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital fiber-type disproportion myopathy"	0	0	142
Polycystic kidney disease 4 with or without polycystic liver disease	congenital fibrose liver//congenital hepatic fibrosis//congenital liver fibrosis//excessive buildup of connective tissue and scarring of liver at birth//hepatic fibrosis, congenital//isolated chf//polycystic kidney disease 4 with or without hepatic disease//autosomal recessive//formerly//infantile//isolated congenital hepatic fibrosis//nonsyndromic congenital hepatic fibrosis//pkd3//polycystic kidney and hepatic disease 1//polycystic kidney disease//type i	PKHD1	PKHD1	https://raresource.nih.gov/literature/disease/0006168	0006168			C0085548		Q61.1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycystic kidney disease 4 with or without polycystic liver disease"	0	0	6384
Hepatoerythropoietic porphyria	erythrohepatic porphyria//erythrohepatic porphyrias//hep//hepatoerythropoietic porphyria//hepatoerythropoietic porphyrias//homozygous porphyria cutanea tarda//porphyria, erythrohepatic//porphyria, hepatoerythropoietic//porphyrias, erythrohepatic//porphyrias, hepatoerythropoietic	UROD	UROD	https://raresource.nih.gov/literature/disease/0006169	0006169	176100	95159	C0268324	D017121		uroporphyrinogen decarboxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatoerythropoietic porphyria"	0	0	123
X-linked dominant chondrodysplasia punctata	cdpx2//cdpxd//chondrodysplasia punctata 2, x-linked dominant; cdpx2//conradi-hunermann syndrome//conradi-hunermann-happle syndrome//cpxd//calcinosis universalis//chondrodysplasia punctata 2, x linked//chondrodysplasia punctata 2, x linked dominant//chondrodysplasia punctata 2, x-linked//chondrodysplasia punctata 2, x-linked dominant//chondrodysplasia calcificans congenita//chondrodysplasia punctata, conradi-hunermann type//chondrodysplasia punctata, conradi-hünermann type//chondrodysplasia punctata, x-linked dominant//chondrodysplasia punctata, x-linked dominant type//chondrodystrophia calcificans congenita//conrad hunermann happle syndrome//conradi hunermann happle syndrome//conradi hunermann syndrome//conradi hünermann happle syndrome//conradi hünermann syndrome//conradi disease//conradi's syndrome//conradi-hunermann-happle syndromes//conradi-hünermann syndrome//conradi-hünermann syndromes//conradi-hünermann-happle syndrome//conradi-hünermann-happle syndromes//ebp chondrodysplasia punctata//happle syndrome//hunermann conradi syndrome//hunermann-conradi syndrome//x linked chondrodysplasia punctata 2//x linked dominant chondrodysplasia punctata//x-linked dominant chondrodysplasia punctata//x-linked chondrodysplasia punctata//x-linked chondrodysplasia punctata 2//x-linked chondrodysplasia punctata type 2//x-linked dominant chondrodysplasia punctata 2//chondrodysplasia punctata 2 x-linked dominant//chondrodysplasia punctata caused by mutation in ebp//chondrodysplasia punctata, x-linked	EBP	EBP	https://raresource.nih.gov/literature/disease/0006189	0006189	302960	35173	C0263627			EBP cholestenol delta-isomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked dominant chondrodysplasia punctata"	0	0	351
Congenital hereditary endothelial dystrophy type II	autosomal recessive ched//autosomal recessive congenital hereditary endothelial dystrophy//ched//ched2//ched2 congenital hereditary endothelial dystrophy of the cornea 2//ched2, formerly//chedii//congenital hereditary endothelial dystrophy of cornea//corneal dystrophy, congenital hereditary endothelial//corneal endothelial dystrophy 2, autosomal recessive, formerly//congenital hereditary endothelial dystrophy of the cornea//congenital hereditary endothelial dystrophy type 2//corneal endothelial dystrophy 2//corneal endothelial dystrophy type 2//infantile hereditary endothelial dystrophy//maumenee corneal dystrophy//congenital hereditary endothelial dystrophy type ii//corneal endothelial dystrophy//corneal endothelial dystrophy 2, autosomal recessive//corneal endothelial dystrophy 2, autosomal recessive; ched2//corneal endothelial dystrophy; ched	SLC4A11	SLC4A11	https://raresource.nih.gov/literature/disease/0006196	0006196	217700	293603	C1857569			solute carrier family 4 member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital hereditary endothelial dystrophy type II"	0	0	179
Cowden syndrome	bannayan-riley-ruvalcaba syndrome//bannayan-zonana syndrome//bbrs//bzs//bannayan riley ruvalcaba syndrome//bannayan zonana syndrome//bannayan-ruvalcaba-riley syndrome//cd//cerebellar granule cell hypertrophy and megalencephaly//cerebelloparenchymal disorder vi//cowden syndrome 1//cpd6//cs//cws1//cerebellum dysplastic gangliocytoma//cerebellum dysplastic gangliocytomas//cowden//cowden disease//cowden syndrome//cowden disease caused by mutation in pten//cowden syndrome 1; cws1//cowden syndrome type 1//cowden's disease//cowden's syndrome//cowden-like syndrome//cowdens disease//cowdens syndrome//dysplastic gangliocytoma of the cerebellum//dysplastic gangliocytoma of cerebellum//hamartoma syndrome, multiple//hamartoma syndromes, multiple//ldd//lhermitte-duclos disease//lhermitte duclos disease//macrocephaly, multiple lipomas, and hemangiomata//macrocephaly, pseudopapilledema, and multiple hemangiomata//mham//multiple hamartoma syndrome//macrocephaly, pseudopapilledema, and multiple hemangiomas//multiple hamartoma syndromes//myhre riley smith syndrome//myhre-riley-smith syndrome//phts//proteus-like syndrome//pten cowden disease//pten hamartoma tumor syndrome//pten hamartoma tumor syndrome with granular cell tumor//pten hamartoma syndrome//riley-smith syndrome//rmss//ruvalcaba-myhre-smith syndrome//riley smith syndrome//ruvalcaba myhre smith syndrome//ruvalcaba-myhre syndrome//cerebelloparenchymal disorder 6	SEC23B;SDHB;SDHD;PTEN;PIK3CA;AKT1;KLLN;USF3;SDHC	SEC23B;SDHB;SDHD;PTEN;PIK3CA;AKT1;KLLN;USF3;SDHC	https://raresource.nih.gov/literature/disease/0006202	0006202	615106	201	C0018553	D006223		SEC23 homolog B, COPII coat complex component;succinate dehydrogenase complex iron sulfur subunit B;succinate dehydrogenase complex subunit D;phosphatase and tensin homolog;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha;AKT serine/threonine kinase 1;killin, p53 regulated DNA replication inhibitor;upstream transcription factor family member 3;succinate dehydrogenase complex subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cowden syndrome"	0	0	41832
Cramp-fasciculation syndrome		TRPA1	TRPA1	https://raresource.nih.gov/literature/disease/0006205	0006205		581271				transient receptor potential cation channel subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cramp-fasciculation syndrome"	0	0	44
Crouzon syndrome	cfd1//craniofacial dysostosis, type i//crouzon craniofacial dysostosis//craniofacial dysarthroses//craniofacial dysarthrosis//craniofacial dysostoses//craniofacial dysostosis//craniofacial dysostosis syndrome//craniofacial dysostosis syndromes//craniofacial dysostosis type 1//craniofacial dysostosis, crouzon//crouzon disease//crouzon syndrome//crouzon's disease//crouzons disease//dysarthroses, craniofacial//dysarthrosis, craniofacial//dysostoses, craniofacial//dysostosis, craniofacial//craniofacial dysostosis, type 1	ERF;FGFR2	ERF;FGFR2	https://raresource.nih.gov/literature/disease/0006206	0006206	123500	207				ETS2 repressor factor;fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crouzon syndrome"	0	0	990
Monosomy 5p	5p deletion syndrome//5p deletion syndromes//5p minus syndrome//5p minus syndromes//5p syndrome//5p partial monosomy syndrome//5p- syndrome//5p- syndrome, chromosome//5p- syndromes//5p- syndromes, chromosome//cat cry syndrome//chromosome 5p deletion syndrome//cat cry syndromes//cat-cry syndrome//chromosome 5 short arm deletion syndrome//chromosome 5p- syndrome//chromosome 5p- syndromes//cri du chat syndrome//cri-du-chat syndromes//cri-du-chat syndrome//crying cat syndrome//crying cat syndromes//deletion 5p//deletion syndrome, 5p//deletion syndromes, 5p//deletion of short arm of chromosome 5 syndrome//deletion of short arm of chromosome 5//lejeune syndrome//minus syndrome, 5p//minus syndromes, 5p//partial deletion of short arm of chromosome 5 syndrome//syndrome, 5p deletion//syndrome, 5p minus//syndrome, 5p-//syndrome, cat cry//syndrome, chromosome 5p-//syndrome, cri-du-chat//syndrome, crying cat//syndromes, 5p deletion//syndromes, 5p minus//syndromes, cat cry//syndromes, chromosome 5p-//syndromes, cri-du-chat//syndromes, crying cat//monosomy 5p//monosomy type 5p	SEMA5A;CTNND2	SEMA5A;CTNND2	https://raresource.nih.gov/literature/disease/0006213	0006213	123450	281	C0010314	D003410		semaphorin 5A;catenin delta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monosomy 5p"	0	0	528
Cutis marmorata telangiectatica congenita	cmtc//cmtc - cutis marmorata telangiectatica congenita//congenital livedo reticularis//cutis marmorata telangiectasia congenita//hereditary cutis marmorata telangiectatica congenita//van lohuizen syndrome//van lohuizen's syndrome//cutis marmorata telangiectatica congenita//cutis marmorata telangiectatica congenita (disease)//cutis marmorata telangiectatica congenita; cmtc	ARL6IP6	ARL6IP6	https://raresource.nih.gov/literature/disease/0006228	0006228	219250	1556	C0345419	C536226		ADP ribosylation factor like GTPase 6 interacting protein 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cutis marmorata telangiectatica congenita"	0	0	243
Cyclic neutropenia	ch//cn//cyclic hematopoiesis//cyn//cyclic hematopoesis//cyclic leucopenia//cyclic neutropenia//cyclical neutropenia//neutropenia cyclic//neutropenia, cyclic//neutropenia, periodic//periodic neutropenia//cyclic agranulocytosis//dysplasia, myelocytic periodic	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[]=Cyclic neutropenia"	0	0	128
Cystic fibrosis	cf//cf - cystic fibrosis//cystic fibros w/o ileus//cystic fibrosis of pancreas//cystic fibrosis, pancreatic//cystic fibrosis, pulmonary//cystic fibrosis (disorder)//cystic fibrosis nos//cystic fibrosis nos (disorder)//cystic fibrosis without mention of meconium ileus//fibrocystic disease of pancreas//fibrocystic disease//fibrosis, cystic//mucoviscidosis//meconium ileus in cystic fibrosis (disorder)//meconium obstruction of intestine in mucoviscidosis//pancreas fibrocystic disease//pancreas fibrocystic diseases//pancreatic cystic fibrosis//pulmonary cystic fibrosis//cystic fibrosis//cystic fibrosis with combined manifestations//cystic fibrosis with gastrointestinal manifestations//cystic fibrosis with meconium ileus//cystic fibrosis with meconium ileus (disorder)//cystic fibrosis with other manifestations//cystic fibrosis with other manifestations (disorder)//cystic fibrosis with pulmonary manifestations//cystic fibrosis with pulmonary manifestations (disorder)//cystic fibrosis; cf	KCNN4;CFTR;GCLC;GSTM3;HFE;EDNRA;CLCA4;SLC6A14;SLC11A1;SLC9A3;SERPINA1;MIF;STX1A;TGFB1;SLC26A9;DCTN4;CEACAM3;CEACAM6;HMOX1	KCNN4;CFTR;GCLC;GSTM3;HFE;EDNRA;CLCA4;SLC6A14;SLC11A1;SLC9A3;SERPINA1;MIF;STX1A;TGFB1;SLC26A9;DCTN4;CEACAM3;CEACAM6;HMOX1	https://raresource.nih.gov/literature/disease/0006233	0006233	219700	586	C0010674	D003550		potassium calcium-activated channel subfamily N member 4;CF transmembrane conductance regulator;glutamate-cysteine ligase catalytic subunit;glutathione S-transferase mu 3;homeostatic iron regulator;endothelin receptor type A;chloride channel accessory 4;solute carrier family 6 member 14;solute carrier family 11 member 1;solute carrier family 9 member A3;serpin family A member 1;macrophage migration inhibitory factor;syntaxin 1A;transforming growth factor beta 1;solute carrier family 26 member 9;dynactin subunit 4;CEA cell adhesion molecule 3;CEA cell adhesion molecule 6;heme oxygenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystic fibrosis"	0	0	52441
Darier disease	acantholytic dyskeratotic epidermal nevi//acantholytic dyskeratotic epidermal nevus//acrokeratosis verruciformis//acrokeratosis verruciformis of hopf//dar//darier disease//darier disease, acral hemorrhagic type//darier disease, segmental//darier-white disease//dd//darier white disease//darier's disease//darier-white diseases//darier-white disease; dar//dariers disease//disease, darier//disease, darier's//disease, darier-white//disease, hopf//diseases, darier-white//diseases, hopf//dyskeratosis follicularis//follicular keratosis//hopf acrokeratosis verruciformis//hopf disease//hopf diseases//keratosis follicularis//psorospermosis//psorospermosis follicularis vegetans//verruciformis, acrokeratosis	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[]=Darier disease"	0	0	5778
Desmoplastic small round cell tumor	dsrct//desmoplas. small round cell tumor//desmoplastic small cell tumor//desmoplastic small round-cell tumor//desmoplastic small-cell tumor//desmoplastic small-cell tumors//desmoplastic small round-cell neoplasm//polyphenotypic small round cell tumor//small-cell tumor, desmoplastic//small-cell tumors, desmoplastic//tumor, desmoplastic small-cell//tumors, desmoplastic small-cell//desmoplastic small round cell tumor//desmoplastic small-round-cell tumor	EWSR1;WT1	EWSR1;WT1	https://raresource.nih.gov/literature/disease/0006265	0006265		83469	C0281508	D058405		EWS RNA binding protein 1;WT1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmoplastic small round cell tumor"	0	0	692
Blackfan-Diamond anemia	aase syndrome//aase-smith syndrome ii//anemia, congenital erythroid hypoplastic//anemia, congenital hypoplastic, of blackfan and diamond//aregenerative anemia, chronic congenital//aase-smith ii syndrome//aase-smith syndrome 2//anemia diamond blackfan type//anemia and triphalangeal thumbs//anemia congenital erythroid hypoplastic//anemia, blackfan diamond//anemia, diamond blackfan//anemia, diamond blackfan type//anemia, diamond-blackfan//anemia, diamond-blackfan type//anemia, hypoplastic congenital//anemias, hypoplastic congenital//aregenerative anemia chronic congenital//bds//blackfan-diamond syndrome//blackfan - diamond syndrome//blackfan diamond anemia//blackfan diamond disease//blackfan diamond syndrome//blackfan-diamond disease//blackfan-diamond type//chronic congenital agenerative anemia//chronic constitutional pure red cell anemia//chronic constitutional pure red cell aplasia//congenital anemia, hypoplastic//congenital anemias, hypoplastic//congenital erythroid hypoplastic anemia//congenital hypoplastic anemia of blackfan and diamond//congenital prca//congenital pure red cell anemia//congenital pure red cell aplasia//congenital anemia and triphalangeal thumbs//congenital dyserythropoietic anaemia//congenital hypoplastic anaemia//congenital hypoplastic anemia//congenital hypoplastic anemia, blackfan-diamond type//congenital red cell aplasia//dba//dba1//diamond anemia, blackfan//diamond blackfan anemia//diamond-blackfan anemia//diamond-blackfan anemia type 1//diamond-blackfan type anemia//diamond-blackfan anemia 1//diamond-blackfan anemia 1; dba1//diamond-blackfan anemia caused by mutation in rps19//diamond-blackfan syndrome//disease, blackfan-diamond//erythrogenesis imperfecta//erythroblastopenia, inherited//erythroblastopenias, inherited//erythrogenesis imperfectas//hypoplastic congenital anemia//hypoplastic congenital anemias//hypoplastic anemia-triphalangeal thumbs, aase-smith type//imperfecta, erythrogenesis//imperfectas, erythrogenesis//inherited erythroblastopenia//inherited erythroblastopenias//pure hereditary red cell aplasia//red cell aplasia, pure, hereditary//rps19 diamond-blackfan anemia//rps19-related diamond-blackfan anemia//red cell aplasia, pure hereditary//chronic constitutional pure red cell anaemia	RPL26;RPL18;RPL31;RPL35;RPL35A;RPL5;RPS10;RPS15A;RPS17;RPS19;RPS20;RPS24;RPS26;RPS27;RPS28;RPS29;RPS7;ADA2;TSR2;GATA1;RPL11;RPL15;RPL27	RPL26;RPL18;RPL31;RPL35;RPL35A;RPL5;RPS10;RPS15A;RPS17;RPS19;RPS20;RPS24;RPS26;RPS27;RPS28;RPS29;RPS7;ADA2;TSR2;GATA1;RPL11;RPL15;RPL27	https://raresource.nih.gov/literature/disease/0006274	0006274	612528	124	C1260899	D029503		ribosomal protein L26;ribosomal protein L18;ribosomal protein L31;ribosomal protein L35;ribosomal protein L35a;ribosomal protein L5;ribosomal protein S10;ribosomal protein S15a;ribosomal protein S17;ribosomal protein S19;ribosomal protein S20;ribosomal protein S24;ribosomal protein S26;ribosomal protein S27;ribosomal protein S28;ribosomal protein S29;ribosomal protein S7;adenosine deaminase 2;TSR2 ribosome maturation factor;GATA binding protein 1;ribosomal protein L11;ribosomal protein L15;ribosomal protein L27	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Blackfan-Diamond anemia"	0	0	1564
Diastrophic dysplasia	dd//dd - diastrophic dysplasia//diastrophic dysplasia, broad bone-platyspondylic variant//dtd//dtd - diastrophic dysplasia//diastrophic dwarf//diastrophic dwarfism//diastrophic dysplasia syndrome//diastrophic nanism syndrome//diastrophic dysplasia//diastrophic dysplasia; dtd	SLC26A2	SLC26A2	https://raresource.nih.gov/literature/disease/0006275	0006275	222600	628	C0220726			solute carrier family 26 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diastrophic dysplasia"	0	0	4917
Duane retraction syndrome	acrorenoocular syndrome//acrorenoocular syndromes//anomalies, isolated duane//anomaly, duane//anomaly, isolated duane//co contractive retraction syndrome//co-contractive retraction syndrome//co-contractive retraction syndromes//drs//duane anomaly//duane syndrome//durs//durs1//dus//duane anomalies, isolated//duane anomaly with radial abnormalities and deafness//duane anomaly with radial ray abnormalities and deafness//duane anomaly, isolated//duane radial ray syndrome//duane retraction syndrome 1//duane retraction syndrome 2//duane retraction syndrome, type 1//duane retraction syndrome, type 2//duane retraction syndrome, type 3//duane retraction syndrome 1; durs1//duane's syndrome//duane's retraction syndrome//duane-radial ray syndrome//duanes syndrome//eye retraction syndrome//isolated duane anomalies//isolated duane anomaly//isolated duane retraction syndrome//ocular retraction syndrome//ocular retraction syndromes//okihiro syndrome//retraction syndrome//retraction syndrome, co-contractive//retraction syndrome, duane//retraction syndrome, ocular//retraction syndromes//retraction syndromes, co-contractive//retraction syndromes, ocular//stilling turk duane syndrome//stilling-turk-duane syndrome//stilling-turk-duane syndromes//syndrome, acrorenoocular//syndrome, co-contractive retraction//syndrome, duane//syndrome, duane retraction//syndrome, duane's//syndrome, duane-radial ray//syndrome, ocular retraction//syndrome, okihiro//syndrome, retraction//syndrome, stilling-turk-duane//syndromes, acrorenoocular//syndromes, co-contractive retraction//syndromes, ocular retraction//syndromes, retraction//syndromes, stilling-turk-duane//type 1 duane retraction syndrome//type 2 duane retraction syndrome//type 3 duane retraction syndrome	SALL4;CHN1;MAFB	SALL4;CHN1;MAFB	https://raresource.nih.gov/literature/disease/0006288	0006288	604356	233	C0013261	D004370		spalt like transcription factor 4;chimerin 1;MAF bZIP transcription factor B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duane retraction syndrome"	0	0	4470
Dubowitz syndrome	dubowitz's syndrome//dwarfism-eczema-peculiar facies syndrome//intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci//intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci	NSUN2;LIG4	NSUN2;LIG4	https://raresource.nih.gov/literature/disease/0006290	0006290	223370	235	C0175691	C535718		NOP2/Sun RNA methyltransferase 2;DNA ligase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dubowitz syndrome"	0	0	110
Duchenne muscular dystrophy	becker muscular dystrophy//becker's muscular dystrophy//benign duchenne muscular dystrophy//cardiomyopathy, dilated, 3b//cardiomyopathy, dilated, x-linked//childhood muscular dystrophy, pseudohypertrophic//childhood pseudohypertrophic muscular dystrophy//dmd//dmd - duchenne muscular dystrophy//duchenne muscular dystrophy//duchenne becker muscular dystrophy//duchenne type progressive muscular dystrophy//duchenne and becker muscular dystrophy//duchenne type//duchenne-becker muscular dystrophy//duchenne-type progressive muscular dystrophy//muscular dystrophy, pseudohypertrophic progressive, duchenne type//muscular dystrophy pseudohypertrophic progressive, becker type//muscular dystrophy, becker//muscular dystrophy, becker type//muscular dystrophy, becker's//muscular dystrophy, childhood, pseudohypertrophic//muscular dystrophy, duchenne type//muscular dystrophy, duchenne and becker types//muscular dystrophy, duchenne-becker//muscular dystrophy, pseudohypertrophic//muscular dystrophy, pseudohypertrophic progressive, becker type//muscular dystrophy, pseudohypertrophic, childhood//muscular dystrophy, duchenne//progressive muscular dystrophy, duchenne type//pseudohypertrophic childhood muscular dystrophy//pseudohypertrophic muscular dystrophy//pseudohypertrophic muscular dystrophy, childhood//severe dystrophinopathy//severe dystrophinopathy, duchenne type//muscular dystrophy, duchenne type; dmd	DMD;LTBP4	DMD;LTBP4	https://raresource.nih.gov/literature/disease/0006291	0006291	310200	98896	C0013264	D020388		dystrophin;latent transforming growth factor beta binding protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Duchenne muscular dystrophy"	0	0	13584
Dyggve-Melchior-Clausen disease	dmc//dmc disease//dmc syndrome//dyggve-melchior-clausen disease//dyggve-melchior-clausen syndrome, x-linked//dyggve-melchior-clausen disease; dmc//dyggve-melchior-clausen dysplasia//dyggve-melchior-clausen syndrome//dyggve-melchior-clausen syndrome x linked//x-linked dyggve-melchior-clausen syndrome//pseudo-morquio disease type i	DYM	DYM	https://raresource.nih.gov/literature/disease/0006295	0006295	223800	239	C0265286	C535726		dymeclin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyggve-Melchior-Clausen disease"	0	0	164
Dyskeratosis congenita, autosomal dominant 1	autosomal dominant dyskeratosis congenita//cole-engmann-zinsser syndrome//congenita, x-linked dyskeratosis//congenital dyskeratosis//dc//dkc//dkc - dyskeratosis congenita//dkca//dkca1//dyskeratosis congenita, scoggins type//dyskeratosis congenita, x linked//dyskeratosis congenita, x-linked//dyskeratosis congenita scoggins type//dyskeratosis congenita autosomal dominant//syndrome, zinsser-cole-engman//x-linked dyskeratosis congenita//x-linked dyskeratosis congenitas//zinsser cole engman syndrome//zinsser-cole-engman syndrome//zinsser-cole-engmann syndrome//zinsser-engman-cole syndrome//autosomal dominant dyskeratosis congenita 1//dyskeratosis congenita//dyskeratosis congenita, autosomal dominant 1//dyskeratosis congenita, autosomal dominant 1; dkca1//dyskeratosis congenita, autosomal dominant type 1//scoggins type	TERC	TERC	https://raresource.nih.gov/literature/disease/0006299	0006299		1775	C4551974			telomerase RNA component	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal dominant 1"	0	0	335
Dyskeratosis congenita, autosomal recessive 1	autosomal recessive dyskeratosis congenita//dkcb//dkcb1//dyskeratosis congenita autosomal recessive//autosomal recessive dyskeratosis congenita 1//dyskeratosis congenita, autosomal recessive 1//dyskeratosis congenita, autosomal recessive 1; dkcb1//dyskeratosis congenita, autosomal recessive type 1	NOP10	NOP10	https://raresource.nih.gov/literature/disease/0006300	0006300		1775	C1857144			NOP10 ribonucleoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita, autosomal recessive 1"	0	0	4
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	autosomal recessive dystrophic epidermolysis bullosa//autosomal recessive dystrophic epidermolysis bullosa generalisata gravis//autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type//autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type (formerly)//dystrophic epidermolysis bullosa, autosomal recessive//ebr1//epidermolysis bullosa dystrophica inversa, autosomal recessive//epidermolysis bullosa dystrophica, autosomal recessive, localisata variant//epidermolysis bullosa dystrophica, generalized severe, autosomal recessive//epidermolysis bullosa dystrophica, hallopeau-siemens type//generalized rdeb//generalized rdeb, severe form//hallopeau-siemens type//rdeb//rdeb generalisata gravis//rdeb, hallopeau-siemens type//rdeb, severe generalized//rdeb-sev gen//recessive dystrophic epidermolysis bullosa, severe generalized//severe generalized rdeb//severe generalized recessive dystrophic epidermolysis bullosa//epidermolysis bullosa dystrophica, autosomal recessive//epidermolysis bullosa dystrophica, autosomal recessive; rdeb//severe form	MMP1;COL7A1	MMP1;COL7A1	https://raresource.nih.gov/literature/disease/0006308	0006308	226600	79408				matrix metallopeptidase 1;collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"	0	0	468
Ebstein malformation of the tricuspid valve	anomaly, ebstein//anomaly, ebstein's//ebstein malformation//ebstein anomaly//ebstein anomaly (disease)//ebstein anomaly of the tricuspid valve//ebstein anomaly of tricuspid valve//ebstein's anomaly//ebstein's anomaly, familial//ebstein's malformation//ebstein's anomaly (disorder) [ambiguous]//ebstein's anomaly of common atrioventricular valve//ebstein's anomaly of common atrioventricular valve (disorder)//ebstein's anomaly of right atrioventricular valve//ebstein's anomaly of right atrioventricular valve (disorder)//ebstein's anomaly of the tricuspid valve//ebstein's anomaly of tricuspid valve//ebstein's anomaly of tricuspid valve (disorder)//ebstein's malformation of tricuspid valve//ebsteins anomaly//ebsteins malformation//familial ebstein anomaly//familial ebstein's anomaly//familial ebsteins anomaly//malformation, ebstein's	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0006313	0006313	224700	1880	C0013481			myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ebstein malformation of the tricuspid valve"	0	0	2220
Isolated split hand-split foot malformation	claw hand//claw hand deformities//claw hand deformity//claw hands//claw-hand deformities//claw-hand deformity//clawed hands//cleft foot//cleft hand//congenital cleft hand//ecd//ectrodactyly//ectrodactyly of feet//ectrodactyly of the hand//fewer digits//foot ectrodactyly//hand ectrodactyly//lobster claw deformity//lobster claw foot//lobster claw hand//lobster-claw foot deformity//lobster-claw hand//shfd1//shfm//shfm1//shsf1//split-hand deformity//split-hand/foot deformity 1//split-hand/foot malformation 1 with or without deafness//split feet//split foot//split foot (disease)//split hand//split hand (disease)//split hand deformity 1//split hand foot deformity 1//split hand foot malformation//split hand foot malformation 1//split hand malformation1//split-hand-foot deformity 1//split-hand-foot malformation 1//split-foot//split-hand//ectrodactyly of hand//isolated split hand-split foot malformation//lobster-claw deformity//split foot, bilateral//split foot, unilateral//split hand or/and split foot malformation//split hand, bilateral//split hand, unilateral//split hand-foot malformation//split hand-foot malformation 1//split hand-foot malformation type 1//split hand-split foot malformation//split-hand/foot malformation//split-hand/foot malformation 1//split-hand/foot malformation 1; shfm1//split-hand/foot malformation type 1	WNT10B;TP63;SEM1;DLX5;EPS15L1;BTRC;DLX6	WNT10B;TP63;SEM1;DLX5;EPS15L1;BTRC;DLX6	https://raresource.nih.gov/literature/disease/0006319	0006319	605289	2440	C0265554			Wnt family member 10B;tumor protein p63;SEM1 26S proteasome subunit;distal-less homeobox 5;epidermal growth factor receptor pathway substrate 15 like 1;beta-transducin repeat containing E3 ubiquitin protein ligase;distal-less homeobox 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated split hand-split foot malformation"	0	0	1810
Endometrial stromal sarcoma	ess//endometrial stromal sarcoma//endometrial stromal sarcomas//endometrial sarcoma//endometrial stromal sarcoma, high grade//endometrioid stromal sarcoma, high grade//high grade endometrial stromal sarcoma//primary malignant stromal sarcoma of endometrium//sarcoma, endometrial stromal//sarcomas, endometrial stromal//stromal sarcoma, endometrial//stromal sarcomas, endometrial//stromal sarcoma of the corpus uteri//undifferentiated uterine sarcoma//undifferentiated endometrial sarcoma//uterine corpus undifferentiated endometrial sarcoma//uterine corpus undifferentiated sarcoma//endometrioid stromal sarcoma//stromal sarcoma, endometrial, malignant	YWHAE;SUZ12;NUTM2A;NUTM2B;JAZF1	YWHAE;SUZ12;NUTM2A;NUTM2B;JAZF1	https://raresource.nih.gov/literature/disease/0006339	0006339		213711	C0206630	D018203		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon;SUZ12 polycomb repressive complex 2 subunit;NUT family member 2A;NUT family member 2B;JAZF zinc finger 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Endometrial stromal sarcoma"	0	0	1747
Ependymoma	anaplastic ependymoma//anaplastic ependymomas//cellular ependymoma//cellular ependymoma (histologic variant)//classic ependymoma//clear cell ependymoma//clear cell ependymoma (histologic variant)//ependymoma, anaplastic//ependymoma, myxopapillary//ependymoma, papillary//ependymoma, familial//ependymoma, no icd-o subtype//ependymoma, no international classification of diseases for oncology subtype//ependymomas//ependymomas, anaplastic//ependymomas, myxopapillary//ependymomas, papillary//epithelial ependymoma//myxopapillary ependymoma//myxopapillary ependymomas//papillary ependymoma//papillary ependymomas//papillary ependymoma (histologic variant)//tanycytic ependymoma (histologic variant)//who grade ii ependymal neoplasm//who grade ii ependymal tumor//benign ependymoma//ependymoma//ependymoma, nos//ependymoma, benign	RELA;ZFTA	RELA;ZFTA	https://raresource.nih.gov/literature/disease/0006353	0006353		251636	C0014474			RELA proto-oncogene, NF-kB subunit;zinc finger translocation associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ependymoma"	0	0	4701
Epidermodysplasia verruciformis	disease, lewandowsky-lutz//disease, lutz-lewandowsky//epidermodysplasia verruciformis//epidermodysplasia verruciformis, susceptibility to, 2; ev2//ev//ev1//lewandowsky lutz disease//lewandowsky-lutz disease//lewandowsky-lutz dysplasia//lewandowsky-lutz syndrome//lutz lewandowsky disease//lutz-lewandowsky disease//lutz-lewandowsky epidermodysplasia verruciformis//epidermodysplasia verruciformis; ev//ever	TMC8;TMC6;IL7;CIB1	TMC8;TMC6;IL7;CIB1	https://raresource.nih.gov/literature/disease/0006357	0006357	618231	302	C0014522	D004819		transmembrane channel like 8;transmembrane channel like 6;interleukin 7;calcium and integrin binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermodysplasia verruciformis"	0	0	1478
Primary erythromelalgia	erythromelalgia, familial//erythromelalgia, primary//erythermalgia//erythermalgia, primary//erythermalgias//erythermalgias, primary//erythralgia//erythromelalgia//erythromelalgia type ii//erythromelalgias//familial erythromelalgia//mitchell disease (formerly)//neuropathy, small fiber//perythm//primary erythermalgia//primary erythermalgias//primary erythromelalgia//scn9a-related inherited erythromelalgia//sfnp//weir mitchell's disease	SCN10A;SCN9A;SCN11A	SCN10A;SCN9A;SCN11A	https://raresource.nih.gov/literature/disease/0006377	0006377	133020	90026	C0014805			sodium voltage-gated channel alpha subunit 10;sodium voltage-gated channel alpha subunit 9;sodium voltage-gated channel alpha subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary erythromelalgia"	0	0	683
Skeletal Ewing sarcoma	askin tumor//es//ewing sarcoma//ewing tumor//ewing family of tumors//ewing sarcoma; es//ewing's sarcoma//ewing's tumor//ewing's family localized tumor//ewing's sarcoma/peripheral primitive neuroectodermal tumor//ewings sarcoma//ewings tumor//ewings sarcoma-primitive neuroectodermal tumor//neuroepithelioma, peripheral//osseous ewing sarcoma//pne//pnet of thoracopulmonary region//sarcoma, ewing//sarcoma, ewing's//sarcoma, ewings//tumor of the ewing family//tumor, ewing//tumor, ewing's//localized ewing sarcoma//localized ewing's sarcoma//localized ewing's sarcoma/peripheral primitive neuroectodermal tumor//localized ewing's tumor//localized peripheral primitive neuroectodermal tumor//peripheral primitive neuroectodermal tumor	ETV4;ETV1;ERG;FLI1;EWSR1	ETV4;ETV1;ERG;FLI1;EWSR1	https://raresource.nih.gov/literature/disease/0006390	0006390	612219	319	C0553580			ETS variant transcription factor 4;ETS variant transcription factor 1;ETS transcription factor ERG;Fli-1 proto-oncogene, ETS transcription factor;EWS RNA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Skeletal Ewing sarcoma"	0	0	5476
Bladder exstrophy	classic exstrophy of the bladder	TP63;ISL1	TP63;ISL1	https://raresource.nih.gov/literature/disease/0006398	0006398	600057	93930	C0005689	D001746		tumor protein p63;ISL LIM homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bladder exstrophy"	0	0	1343
Fabry disease	alpha-galactosidase a deficiency//anderson-fabry disease//angiokeratoma corporis diffusum//anderson fabry disease//angiokeratoma diffuse//angiokeratoma corporis diffusum universale//angiokeratoma, diffuse//atypical variants of fabry disease//ceramide trihexosidase deficiency//cardiovasorenal syndrome//ceramide lactoside lipidosis//ceramide trihexosidosis//classic fabry disease//deficiency of alpha-galactosidase//deficiency, ceramide trihexosidase//deficiency, gla//deficiency, alpha-galactosidase a//diffuse angiokeratoma//fabry disease, cardiac variant//fd//fabry syndrome//fabry's disease//gla deficiency//hereditary dystopic lipidosis//lactosyl ceramidosis//lipidosis, hereditary dystopic//ruiter-pompen syndrome//sweeley-klionsky disease//thesaurismosis hereditaria//thesaurismosis lipoidica//alpha galactosidase a deficiency//alpha galactosidase a deficiency disease//alpha galactosidase deficiency//alpha-galactosidase a deficiency disease//alpha-galactosidase-a deficiency//deficiency of melibiase	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"	0	0	8393
Congenital factor X deficiency	congenital stuart factor deficiency//f10 deficiency//factor x deficiency//factor x deficiency, congenital//stuart-prower factor deficiency//stuart factor deficiency, congenital//congenital factor x deficiency//disease, stuart-prower//factor 10 deficiency//hereditary factor x deficiency	F10	F10	https://raresource.nih.gov/literature/disease/0006404	0006404	227600	328	C0015519			coagulation factor X	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor X deficiency"	0	0	354
Bilateral striopallidodentate calcinosis	bspdc//cerebrovascular ferrocalcinosis//idiopathic basal ganglia calcification//pfbc//primary familial brain calcification	JAM2;MYORG;SLC20A2;PDGFRB;PDGFB;XPR1	JAM2;MYORG;SLC20A2;PDGFRB;PDGFB;XPR1	https://raresource.nih.gov/literature/disease/0006406	0006406	618824	1980	C0393590			junctional adhesion molecule 2;myogenesis regulating glycosidase (putative);solute carrier family 20 member 2;platelet derived growth factor receptor beta;platelet derived growth factor subunit B;xenotropic and polytropic retrovirus receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral striopallidodentate calcinosis"	0	0	264
Familial Mediterranean fever	benign paroxysmal peritonitides//benign paroxysmal peritonitis//benign recurrent polyserositis//disease, periodic//disease, wolff periodic//disease, wolff's periodic//diseases, periodic//familial mediterranean fever, autosomal recessive//fmf//fmf - familial mediterranean fever//familial mediterranean fever type 1//familial mediterranean fever type 2//familial mediterranean fever, autosomal dominant//familial paroxysmal polyserositides//familial paroxysmal polyserositis//familial recurrent polyserositis//mef - familial mediterranean fever//mediterranean fever, familial//polyserositis, familial paroxysmal//polyserositis, recurrent//paroxysmal peritonitides, benign//paroxysmal peritonitis, benign//paroxysmal polyserositides, familial//paroxysmal polyserositis, familial//paroxysmal polyserositis//periodic disease//periodic disease, wolff//periodic disease, wolff's//periodic disease, wolffs//periodic diseases//periodic peritonitides//periodic peritonitis//periodic familial peritonitis//periodic fever//periodic polyserositis//peritonitides, benign paroxysmal//peritonitides, periodic//peritonitis, benign paroxysmal//peritonitis, periodic//polyserositides, familial paroxysmal//polyserositides, recurrent//recurrent polyserositides//recurrent polyserositis//wolff periodic disease//wolff's periodic disease//wolffs periodic disease//familial mediterranean fever; fmf//familial mediterranean fever	MEFV	MEFV	https://raresource.nih.gov/literature/disease/0006421	0006421	249100	342	C0585274	D010505		MEFV innate immunity regulator, pyrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial Mediterranean fever"	0	0	558
Fanconi anemia	anemia, fanconi//anemia, fanconi's//anemias, fanconi//estren-dameshek variant of fanconi anemia//estren-dameshek variant of fanconi pancytopenia//fa//fanca//fanca fanconi anemia//fanconi anemia//fanconi anemia, estren-dameshek variant//fanconi anemia, complementation group type a//fanconi anemias//fanconi hypoplastic anemia//fanconi pancytopenia//fanconi panmyelopathy//fanconi anaemia//fanconi anemia caused by mutation in fanca//fanconi anemia complementation group type a//fanconi anemia, complementation group a//fanconi anemia, complementation group a; fanca//fanconi pancytopenia syndrome//fanconi's anemia//fanconi's anaemia//fanconi's familial refractory anemia//fanconi's hypoplastic anemia//panmyelopathy, fanconi//pancytopenia, congenital//primary erythroid hypoplasia	PALB2;BRIP1;BRCA1;XRCC2;BRCA2;ERCC4;FANCA;FANCB;FANCC;FANCD2;FANCE;FANCF;RAD51;MAD2L2;FANCG;RAD51C;UBE2T;FANCL;FANCM;SLX4;RFWD3;FANCI	PALB2;BRIP1;BRCA1;XRCC2;BRCA2;ERCC4;FANCA;FANCB;FANCC;FANCD2;FANCE;FANCF;RAD51;MAD2L2;FANCG;RAD51C;UBE2T;FANCL;FANCM;SLX4;RFWD3;FANCI	https://raresource.nih.gov/literature/disease/0006425	0006425	617244	84	C0015625	D005199		partner and localizer of BRCA2;BRCA1 interacting helicase 1;BRCA1 DNA repair associated;X-ray repair cross complementing 2;BRCA2 DNA repair associated;ERCC excision repair 4, endonuclease catalytic subunit;FA complementation group A;FA complementation group B;FA complementation group C;FA complementation group D2;FA complementation group E;FA complementation group F;RAD51 recombinase;mitotic arrest deficient 2 like 2;FA complementation group G;RAD51 paralog C;ubiquitin conjugating enzyme E2 T;FA complementation group L;FA complementation group M;SLX4 structure-specific endonuclease subunit;ring finger and WD repeat domain 3;FA complementation group I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fanconi anemia"	0	0	6965
Farber disease	ac deficiency//acid ceramidase deficiency//acid ceramidase deficiencies//acylsphingosine deacylase deficiency//ceramidase deficiency//ceramidase deficiencies//ceramidase deficiency, acid//deficiencies, ceramidase//deficiencies, n-laurylsphingosine deacylase//deficiency, acid ceramidase//deficiency, ceramidase//deficiency, n-laurylsphingosine deacylase//disease, farber's//diseases, farber's//disseminated lipogranulomatosis//farber disease//frbrl//farber lipogranulomatosis//farber lipogranulomatosis; frbrl//farber's disease//farber's diseases//farber's lipogranulomatosis//farber-uzman syndrome//farbers disease//lipogranulomatosis, farber//n laurylsphingosine deacylase deficiency//n-laurylsphingosine deacylase deficiency//n-laurylsphingosine deacylase deficiencies	ASAH1	ASAH1	https://raresource.nih.gov/literature/disease/0006426	0006426	228000	333	C0268255	C537075		N-acylsphingosine amidohydrolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Farber disease"	0	0	225
Fatal familial insomnia	ffi//ffi - familial fatal insomnia//familial fatal insomnia//familial fatal insomnias//familial fatal, insomnia//familial fatals, insomnia//fatal familial insomnia//fatal familial insomnias//fatal insomnia, familial//fatal insomnias, familial//fatal, insomnia familial//fatals, insomnia familial//insomnia, fatal familial//insomnia familial fatal//insomnia familial fatals//insomnia, familial fatal//insomnias, familial fatal//insomnias, fatal familial//fatal familial insomnia; ffi	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0006429	0006429	600072	466	C0206042	D034062		prion protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal familial insomnia"	0	0	447
Fibrodysplasia ossificans progressiva	diffuse progressive ossifying polymyositis//fop//fop - fibrodysplasia ossificans progressiva//fibrodysplasia ossificans progressiva//fibrodysplasia ossificans congenita//muscle calcification and ossification//muscle ossification//muscular ossification//myisitis ossificans//myositis ossificans progressiva//münchmeyer disease//ossification - muscle//progressive myositis ossificans//progressive ossifying myositis//stone man syndrome//fibrodysplasia ossificans progressiva; fop//myositis ossificans	ACVR1	ACVR1	https://raresource.nih.gov/literature/disease/0006445	0006445	135100	337	C0016037	D009221		activin A receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibrodysplasia ossificans progressiva"	0	0	2033
Severe primary trimethylaminuria	fish-odor syndrome//fish malodor syndrome//fish odor syndrome//high urine trimethylamine levels//primary trimethylaminuria//stale fish syndrome//tmau//tmauria//trimethylaminuria//trimethylaminuria (disease)//trimethylaminuria; tmau	FMO3	FMO3	https://raresource.nih.gov/literature/disease/0006447	0006447	602079	468726				flavin containing dimethylaniline monoxygenase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe primary trimethylaminuria"	0	0	196
Fish-eye disease	alpha-lcat deficiency//alpha-lecithin:cholesterol acyltransferase deficiency//alpha-lecithin cholesterol acyltransferase deficiency//corneal dystrophy, dyslipoproteinemic//dyslipoproteinemic corneal dystrophy//fed//fed - fish-eye disease//lcata deficiency//partial lcat deficiency//fish eye disease//fish-eye disease//fish-eye disease; fed	LCAT	LCAT	https://raresource.nih.gov/literature/disease/0006450	0006450	136120	79292	C0342895	C538467		lecithin-cholesterol acyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fish-eye disease"	0	0	415
Floating-Harbor syndrome	fhs//flhs//leisti-hollander-rimoin syndrome//pelletier-leisti syndrome//short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes//floating-harbor syndrome; flhs//floating-harbor syndrome	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"	0	0	280
Focal dermal hypoplasia	dhof//dermal hypoplasia, focal//dermal hypoplasias, focal//fdh//fdh - focal dermal hypoplasia//fodh//fodh - focal dermal hypoplasia//focal dermal hypoplasias//goltz syndrome//goltz-gorlin syndrome//goltz gorlin syndrome//goltz's syndrome//goltzs syndrome//gorlin syndrome, goltz//hypoplasia, focal dermal//hypoplasias, focal dermal//syndrome, goltz//syndrome, goltz gorlin//syndrome, goltz's//syndrome, goltz-gorlin//focal dermal hypoplasia//focal dermal hypoplasia; fdh	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"	0	0	454
Fragile X syndrome	fmr1-related disorders//fragile x mental retardation syndrome//fraxa//fraxa - fragile x syndrome//fraxa syndrome//fraxa syndromes//fraxe syndrome//fraxe syndromes//fxs//fra(x) syndrome//frax syndrome//fragile x syndromes//fragile x syndrome, type a//fragile x-f mental retardation syndrome//marker x syndrome//martin-bell syndrome//mental retardation, x-linked, associated with marxq28//mar (x) syndrome//marker x syndromes//martin bell syndrome//mental retardation, x-linked, associated with fragile site fraxe//syndrome, fraxa//syndrome, fraxe//syndrome, fragile x//syndrome, marker x//syndrome, martin-bell//syndromes, fraxa//syndromes, fraxe//syndromes, fragile x//syndromes, marker x//x linked mental retardation and macroorchidism//x-linked mental retardation and macroorchidism//x-linked intellectual disability and macroorchidism//fragile 10 intellectual disability syndrome//fragile 10 mental retardation syndrome//fragile 10 premature ovarian failure//fragile 10 syndrome//fragile x intellectual disability syndrome//fragile x syndrome//fragile x syndrome; fxs//intellectual disability, x-linked, associated with marxq28//marker 10 syndrome//primary ovarian insufficiency, fragile x-associated	FMR1	FMR1	https://raresource.nih.gov/literature/disease/0006464	0006464	311360	908	C0751156	D005600		fragile X messenger ribonucleoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fragile X syndrome"	0	0	5796
Fraser syndrome	cryptophthalmos with other malformations//cryptophthalmos-syndactyly syndrome//cryptophthalmos syndactyly syndrome//cryptophthalmos syndrome//cryptophthalmos, defect of auricle and genital anomaly//cryptophthalmos-syndactyly syndromes//cyclopism//fraser syndrome//frasrs1//frasrs2//frasrs3//frem2-related fraser syndrome//fused eyelids, airway anomalies, ovarian cysts, and digital anomalies//fraser syndrome 1; frasrs1//fraser syndrome 2//fraser syndrome 2; frasrs2//fraser syndrome 3//fraser syndrome 3; frasrs3//fraser-francois syndrome//fraser-like syndrome//meyer-schwickerath's syndrome//syndrome, fraser//ulrich-feichtiger syndrome	GRIP1;FREM2;FRAS1	GRIP1;FREM2;FRAS1	https://raresource.nih.gov/literature/disease/0006465	0006465	617667	2052	C0265233	D058497		glutamate receptor interacting protein 1;FRAS1 related extracellular matrix 2;Fraser extracellular matrix complex subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fraser syndrome"	0	0	234
Freeman-Sheldon syndrome	arthrogryposis distal type 2a//arthrogryposis, distal, type 2a//craniocarpotarsal dysplasia//craniocarpotarsal dystrophy//da2a//da2b3//distal arthrogryposis, type 2a//distal arthrogryposis type 2a//freeman-sheldon syndrome//fss//freeman-burian syndrome//whistling face-windmill vane hand syndrome//whistling face syndrome//arthrogryposis, distal, type 2a; da2a//arthrogryposis, distal, type 2b3//arthrogryposis, distal, type 2b3; da2b3//cranio-carpo-tarsal syndrome//distal arthrogryposis type 2b3 (sheldon-hall)//freeman sheldon syndrome//whistling-face syndrome//windmill-vane-hand syndrome	MYH3;NALCN	MYH3;NALCN	https://raresource.nih.gov/literature/disease/0006466	0006466	618436	2053	C0265224	C535483		myosin heavy chain 3;sodium leak channel, non-selective	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Freeman-Sheldon syndrome"	0	0	511
Friedreich ataxia	ataxia, friedreich//ataxia, friedreich familial//ataxia, friedreich hereditary//ataxia, friedreich spinocerebellar//ataxia, friedreich's//ataxia, friedreich's familial//ataxia, friedreich's hereditary//ataxias, friedreich//ataxias, friedreich's hereditary//disease, friedreich//disease, friedreich's//fa//fa - friedreich ataxia//farr//frda//frda1//friedreich ataxia 1//friedreich ataxia with retained reflexes//familial ataxia, friedreich//familial ataxia, friedreich's//familial ataxia//friedreich ataxias//friedreich disease//friedreich familial ataxia//friedreich hereditary ataxia//friedreich hereditary spinal ataxia//friedreich spinocerebellar ataxia//friedreich ataxia 1; frda//friedreich ataxia type 1//friedreich's ataxia//friedreich's disease//friedreich's familial ataxia//friedreich's hereditary ataxia//friedreich's hereditary ataxias//friedreich's hereditary spinal ataxia//friedreich's tabes//friedreichs familial ataxia//friedreichs hereditary ataxia//hereditary ataxia, friedreich//hereditary ataxia, friedreich's//hereditary ataxias, friedreich's//hereditary spinal ataxia, friedreich//hereditary spinal ataxia, friedreich's//hereditary spinal scleroses//hereditary spinal sclerosis//hereditary ataxia-friedreich’s type//hereditary spinal ataxia//scleroses, hereditary spinal//sclerosis, hereditary spinal//spinal scleroses, hereditary//spinal sclerosis, hereditary//spinocerebellar ataxia, friedreich	FXN	FXN	https://raresource.nih.gov/literature/disease/0006468	0006468	229300	95	C0016719	D005621		frataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Friedreich ataxia"	0	0	7378
Fucosidosis	a-fucosidase deficiency//alpha-l-fucosidase deficiency//alpha-fucosidase deficiency//deficiency disease, fucosidase//deficiency disease, alpha fucosidase//deficiency disease, alpha l fucosidase//deficiency disease, alpha-fucosidase//deficiency disease, alpha-l-fucosidase//deficiency diseases, fucosidase//deficiency diseases, alpha-fucosidase//deficiency diseases, alpha-l-fucosidase//disease, fucosidase deficiency//disease, alpha-fucosidase deficiency//disease, alpha-l-fucosidase deficiency//diseases, fucosidase deficiency//diseases, alpha-fucosidase deficiency//diseases, alpha-l-fucosidase deficiency//fucosidase deficiency//fucosidase deficiency disease//fucosidase deficiency diseases//fucosidosis type 1//fucosidosis type 1s//fucosidosis type i//fucosidosis type ii//fucosidosis, infantile//fucosidosis, juvenile//infantile fucosidosis//juvenile fucosidosis//lysosomal storage disease caused by defective alpha-l-fucosidase with accumulation of fucose in the tissues//type 1, fucosidosis//type 1s, fucosidosis//alpha fucosidase deficiency disease//alpha l fucosidase deficiency disease//alpha fucosidase deficiency//alpha-fucosidase deficiency disease//alpha-fucosidase deficiency diseases//alpha-l-fucosidase deficiency disease//alpha-l-fucosidase deficiency diseases//fucosidosis	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"	0	0	2002
Congenital muscular dystrophy, Fukuyama type	fcmd//fktn-related congenital muscular dystrophy//fukuyama congenital muscular dystrophy	FKTN	FKTN	https://raresource.nih.gov/literature/disease/0006475	0006475	253800	272	C0410174			fukutin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital muscular dystrophy, Fukuyama type"	0	0	299
Fumaric aciduria	deficiency of fumarase//deficiency of fumarate hydratase//fmrd//fumaric aciduria//fumarase deficiency//fumarate hydratase deficiency//fumaricaciduria//fumarase deficiency; fmrd	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[]=Fumaric aciduria"	0	0	6959
GM1 gangliosidosis type 1	beta-galactosidase-1 deficiency//beta galactosidase deficiency type 1//beta galactosidase deficiency type 1//gangliosidosis, generalized gm1, infantile form//gangliosidosis, generalized gm1, type 1//gangliosidosis, generalized gm1, type i//gangliosidosis, generalized gm1, type i, with cardiac involvement//glb deficiency type 1//glb1 deficiency//gm1-gangliosidosis, type i, with cardiac involvement//gm1-gangliosidosis, type 1//gm1-gangliosidosis, type i//gm1g1//gangliosidosis generalized gm1 infantile form//gangliosidosis generalized gm1 type 1//infantile gm1 gangliosidosis//norman-landing disease	GLB1	GLB1	https://raresource.nih.gov/literature/disease/0006479	0006479	230500	79255				galactosidase beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GM1 gangliosidosis type 1"	0	0	69
Gardner syndrome	gs//gs - gardner's syndrome//gardner syndromes//gardner's syndrome//gardner's syndromes//gardners syndrome//intestinal polyposis, osteomas, sebaceous cysts//polyposis coli and multiple hard and soft tissue tumors//syndrome, gardner//syndrome, gardner's//syndromes, gardner//syndromes, gardner's	APC	APC	https://raresource.nih.gov/literature/disease/0006482	0006482	175100	79665	C0017097	D005736		APC regulator of WNT signaling pathway	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gardner syndrome"	0	0	2787
MALT 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//familial primary gastric lymphoma//gastric lymphoma, primary//gastric lymphoma//immunocytoma//lymphoma, mucosa-associated lymphoid type//lymphoma of mucosa associated lymphoid tissue//lymphoma of bronchial-associated lymphoid tissue [balt-lymphoma]//lymphoma of skin-associated lymphoid tissue [salt-lymphoma]//lymphoma, b-cell, marginal zone//lymphoma, malt//lymphoma, mucosa associated lymphoid tissue//lymphoma, mucosa-associated lymphoid tissue//lymphomas, malt//malt lymphoma//malt lymphoma, somatic//malt lymphomas//malt-lymphoma//maltoma//marginal zone b cell lymphoma//marginal zone b-cell lymphoma//mucosa associated lymphoid tissue lymphoma//mucosa-associated lymphatic tissue lymphoma//mucosa-associated lymphoid tissue lymphoma//mucosa-associated lymphoma//mucosal-associated lymphoid tissue lymphoma//nodal marginal zone lymphoma//primary gastric lymphoma//extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (malt lymphoma)//lymphoma of mucosa-associated lymphoid tissue	BIRC3;IGH;FOXP1;MALT1;BCL10	BIRC3;IGH;FOXP1;MALT1;BCL10	https://raresource.nih.gov/literature/disease/0006485	0006485	137245	52417	C0242647			baculoviral IAP repeat containing 3;immunoglobulin heavy locus;forkhead box P1;MALT1 paracaspase;BCL10 immune signaling adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MALT lymphoma"	0	0	4742
Giant axonal neuropathy	axonal neuropathy, giant//axonal neuropathy, giant (gan)//gan//gan giant axonal neuropathy//gan1//giant axonal neuropathy 1, autosomal recessive//giant axonal neuropathy (gan)//giant axonal neuropathy 1//giant axonal neuropathy 1 (gan1)//neuropathy, giant axonal//neuropathy, giant axonal (gan)//neuropathy, giant axonal, autosomal recessive//giant axonal neuropathy//giant axonal neuropathy 1, autosomal recessive; gan1//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		D056768		gigaxonin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Giant axonal neuropathy"	0	0	239
Pituitary gigantism	hypophyseal gigantism//infantile and juvenile forms of acromegaly	MEN1;AIP	MEN1;AIP	https://raresource.nih.gov/literature/disease/0006506	0006506	102200	99725	C0017547	D005877		menin 1;aryl hydrocarbon receptor interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary gigantism"	0	0	2371
Fibromatosis, gingival, 1	autosomal dominant gingival fibromatosis//autosomal dominant gingival hyperplasia//fibromatosis, gingival, hereditary//fibromatosis gingival, hereditary, 1//ggf1//gingf//gingf1//gingival fibromatosis, 1//hgf//hgf1//hereditary fibrous enlargement of gingiva//hereditary gingival fibromatosis, 1//hereditary gingival hyperplasia//sos1 gingival fibromatosis//sos1 hereditary gingival fibromatosis//fibromatosis//fibromatosis, gingival, 1//fibromatosis, gingival, 1; gingf1//fibromatosis, gingival, type 1//gingival//gingival fibromatosis caused by mutation in sos1//hereditary//hereditary gingival fibromatosis//hereditary gingival fibromatosis caused by mutation in sos1	SOS1	SOS1	https://raresource.nih.gov/literature/disease/0006509	0006509			C0399440			SOS Ras/Rac guanine nucleotide exchange factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 1"	0	0	167
Class I glucose-6-phosphate dehydrogenase deficiency	class i g6pd deficiency//severe hemolytic anemia due to g6pd deficiency	G6PD	G6PD	https://raresource.nih.gov/literature/disease/0006520	0006520	300908	466026				glucose-6-phosphate dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Class I glucose-6-phosphate dehydrogenase deficiency"	0	0	1
Glucose-galactose malabsorption	carbohydrate intolerance//carbohydrate intolerance of glucose galactose//complex carbohydrate intolerance//ggm//gm//glucose galactose malabsorption//glucose galactose malabsorption deficiency//monosaccharide malabsorption//sglt1 deficiency//glucose-galactose malabsorption//glucose/galactose malabsorption//glucose/galactose malabsorption; ggm	SLC5A1	SLC5A1	https://raresource.nih.gov/literature/disease/0006521	0006521	606824	35710	C0268186			solute carrier family 5 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glucose-galactose malabsorption"	0	0	1279
Glutaryl-CoA dehydrogenase deficiency	ga 1//ga i//ga1//gcdhd//glutaric aciduria i//glutaryl-coa dehydrogenase deficiency//glutaric acidemia type 1//glutaric acidemia type i//glutaric acidemia 1//glutaric aciduria 1//glutaric aciduria type 1//glutaricacidemia type 1//glutaricaciduria, type i//glutaryl-coenzyme a dehydrogenase deficiency//glutaric academia type 1//glutaric acidemia i//glutaric acidemia i; ga1//glutaric acidemia, type 1//glutaric aciduria type i//glutaric aciduria, type 1	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[]=Glutaryl-CoA dehydrogenase deficiency"	0	0	667
Glycogen storage disease due to muscle glycogen phosphorylase deficiency	deficiencies, muscle phosphorylase//deficiencies, pygm//deficiency, muscle phosphorylase//deficiency, pygm//disease, mcardle//disease, mcardle's//gsd 5//gsd v//gsd due to muscle glycogen phosphorylase deficiency//gsd type 5//gsd type v//gsd5//glycogen storage disease type 5//glycogen storage disease v//glycogen storage disease type v//glycogen storage disease, type v//glycogenosis 5//glycogenosis 5s//glycogenosis due to muscle glycogen phosphorylase deficiency//glycogenosis type 5//glycogenosis type v//glycogenosis, type 5//mcardle disease//muscle glycogen phosphorylase deficiency//myophosphorylase deficiency//mcardle type glycogen storage disease//mcardle's disease//mcardles disease//mcardle syndrome//mcardle syndromes//muscle phosphorylase deficiencies//muscle phosphorylase deficiency//myophosphorylase deficiencies//myophosphorylase deficiency glycogenosis//pygm deficiency//pygm deficiencies//pygm glycogen storage disease//phosphorylase deficiencies, muscle//phosphorylase deficiency, muscle//syndrome, mcardle//syndromes, mcardle//deficiencies, myophosphorylase//deficiency, myophosphorylase//glycogen storage disease 5//glycogen storage disease v; gsd5//glycogen storage disease caused by mutation in pygm//glycogen storage disease due to muscle glycogen phosphorylase deficiency	PYGM	PYGM	https://raresource.nih.gov/literature/disease/0006528	0006528	232600	368	C2936916	C537276		glycogen phosphorylase, muscle associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle glycogen phosphorylase deficiency"	0	0	748
Glycogen storage disease due to liver glycogen phosphorylase deficiency	disease, hers//disease, hers'//gsd 6//gsd vi//gsd due to liver glycogen phosphorylase deficiency//gsd type 6//gsd type 6b//gsd type vi//gsd6//glycogen storage disease 6//glycogen storage disease type 6//glycogen storage disease type 6b//glycogen storage disease type vi//glycogen storage disease, type vi//glycogenosis 6//glycogenosis type vi//glycogenosis vi//glycogenosis due to liver glycogen phosphorylase deficiency//glycogenosis type 6//glycogenosis type 6b//hers disease//hepatic glycogen phosphorylase deficiency//hepatic phosphorylase deficiency//her disease//hers' disease//liver phosphorylase deficiency syndrome//liver glycogen phosphorylase deficiency//phosphorylase deficiency glycogen-storage disease of liver//pygl glycogen storage disease//type vi, glycogenosis//glycogen storage disease vi//glycogen storage disease vi; gsd6//glycogen storage disease caused by mutation in pygl//glycogen storage disease due to liver glycogen phosphorylase deficiency//hepatophosphorylase deficiency glycogenosis	PYGL	PYGL	https://raresource.nih.gov/literature/disease/0006529	0006529	232700	369	C0017925			glycogen phosphorylase L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to liver glycogen phosphorylase deficiency"	0	0	702
Acrogeria	acrometageria//acrogeria, gottron type//familial acrogeria//gottron syndrome//gottron type//gottron's syndrome//metageria//acrogeria	COL3A1	COL3A1	https://raresource.nih.gov/literature/disease/0006543	0006543	201200	2500	C0238590	C538187		collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrogeria"	0	0	59
Greig cephalopolysyndactyly syndrome	cephalopolysyndactyly syndrome//gcps//greig cephalopolysyndactyly (gcps) syndrome//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"	0	0	1559
Gyrate atrophy of choroid and retina	atrophy, gyrate//deficiency of ornithine-oxo-acid aminotransferase//deficiency, oat//deficiency, okt//deficiency, ornithine aminotransferase//deficiency, ornithine-delta-aminotransferase//fuchs atrophia gyrata chorioideae et retinae//fuchs gyrate atrophy//fuchs gyrate atrophy of the choroid and retina//gacr//gyrate atrophy//girate atrophy of the retina//gyrate atrophy of choroid and retina//gyrate atrophy of the choroid and retina//gyrate atrophy of the choroid and/or retina//hoga//hyperornithinemia with gyrate atrophy of choroid and retina//high blood ornithine levels//hyperornithinemia//hyperornithinemia - gyrate atrophy of choroid and retina//hyperornithinemia-gyrate atrophy of choroid and retina syndrome//oat - ornithine oxo-acid aminotransferase deficiency//oat deficiency//okt deficiency//ornithine aminotransferase deficiency//ornithine keto acid aminotransferase deficiency//ornithine-delta-aminotransferase deficiency//ornithine delta aminotransferase deficiency//ornithine ketoacid aminotransferase deficiency//ornithine ketoacid transaminase deficiency//ornithine oxo-acid aminotransferase deficiency//ornithine-oxo-acid amino acid transferase deficiency//ornithinemia//ornithinemia with gyrate atrophy//gyrate atrophy of choroid and retina; gacr//gyrate atrophy of the retina	OAT	OAT	https://raresource.nih.gov/literature/disease/0006556	0006556	258870	414	C0599035	C537132		ornithine aminotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gyrate atrophy of choroid and retina"	0	0	425
Congenital factor XII deficiency	coagulation factor 12 deficiency//congenital hageman factor deficiency//deficiencies, factor 12//deficiencies, factor twelve//deficiencies, factor xii//deficiency, factor 12//deficiency, factor twelve//deficiency, factor xii//deficiency, hageman factor//f12 deficiency//factor 12 deficiencies//factor 12 deficiency//factor deficiency, hageman//factor twelve deficiencies//factor twelve deficiency//factor xii deficiencies//factor xii deficiency//factor xii deficiency disease//haf deficiency//hageman factor deficiency//hageman trait//reduced factor xii activity//congenital factor xii deficiency//deficiency, hageman	F12	F12	https://raresource.nih.gov/literature/disease/0006558	0006558	234000	330	C0015526			coagulation factor XII	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor XII deficiency"	0	0	281
Familial benign chronic pemphigus	bcpm//benign chronic pemphigus//benign familial pemphigus//benign chronic familial pemphigus of hailey-hailey//benign familial chronic pemphigus//chronic benign familial pemphigus//familial benign chronic pemphigus//familial pemphigus, benign//familial benign pemphigus//hailey-hailey disease//hhd//hailey hailey disease//pemphigus, benign familial//benign chronic pemphigus; bcpm	ATP2C1	ATP2C1	https://raresource.nih.gov/literature/disease/0006559	0006559	169600	2841	C0085106			ATPase secretory pathway Ca2+ transporting 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial benign chronic pemphigus"	0	0	1821
Classic hairy cell leukemia	hcl//hcl - hairy cell leukemia//hcl-c//hairy cell leukemia//hairy cell leukemias//hairy cell leukemia (clinical)//lre - leukemic reticuloendotheliosis//leukemia, hairy cell//leukemias, hairy cell//leukemic reticuloendothelioses//leukemic reticuloendotheliosis//reticuloendothelioses, leukemic//reticuloendotheliosis, leukemic//classic hairy cell leukemia	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[]=Classic hairy cell leukemia"	0	0	3801
Harlequin ichthyosis	'harlequin fetus'//arci4b//baby syndrome, harlequin//baby syndromes, harlequin//fetus, harlequin//harlequin ichthyosis//hi//harlequin baby syndrome//harlequin baby syndromes//harlequin fetus//harlequin ichthyoses//harlequin foetus//harlequin type//harlequin type ichthyosis//ichthyosis congenita, harlequin fetus type//ichthyoses, harlequin//ichthyosis congenita//ichthyosis congenita, harlequin type//ichthyosis fetalis//ichthyosis fetalis, harlequin type//ichthyosis, harlequin//ichthyosis, harlequin type//syndrome, harlequin baby//syndromes, harlequin baby//autosomal recessive congenital ichthyosis 4b//autosomal recessive congenital ichthyosis type 4b//harlequin type ichthyosis congenita//harlequin type ichthyosis fetalis//ichthyosis, congenital, autosomal recessive 4b//ichthyosis, congenital, autosomal recessive 4b; arci4b//ichthyosis, congenital, autosomal recessive type 4b	ABCA12	ABCA12	https://raresource.nih.gov/literature/disease/0006568	0006568	242500	457	C0239849			ATP binding cassette subfamily A member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Harlequin ichthyosis"	0	0	3001
Hartnup disease	amino acid transport disorder, neutral//aminoaciduria//aminoaciduria, hartnup type//deficiency of tryptophan 2,3-dioxygenase//deficiency of tryptophan pyrrolase//hartnup disease//hnd//hartnup disorder//hartnup disorder; hnd//hartnup type//neutral 1 amino acid transport defect//neutral amino acid transport defect//neutral amino acid transport disorder//transport disorder, neutral amino acid//transport disorder, neutral amino acids//deficiency of tryptophan oxygenase	SLC6A19;CLTRN	SLC6A19;CLTRN	https://raresource.nih.gov/literature/disease/0006569	0006569	234500	2116	C0018609	D006250		solute carrier family 6 member 19;collectrin, amino acid transport regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hartnup disease"	0	0	858
Sickle cell-hemoglobin C disease syndrome	disease, hemoglobin sc//disease, sc//diseases, hemoglobin sc//diseases, sc//double heterozygous for hb s and hb d//hb sc disease//hbs-hbc disease//hbsc//hbsc disease//hemoglobin s-c disease//hemoglobin s/c disease//hemoglobin sc//hemoglobin sc diseases//hemoglobin sc disease//sc disease//sc disease, hemoglobin//sc diseases//sc diseases, hemoglobin//sickle cell hemoglobin c disease//sickle cell-hemoglobin c disease//sickle cell - hemoglobin c disease//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			hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sickle cell-hemoglobin C disease syndrome"	0	0	647
Familial hemophagocytic lymphohistiocytosis	fhl//familial hlh//familial erythrophagocytic lymphohistiocytosis//familial histiocytic reticulosis//hlh//hps//hemophagocytic disorder//hemophagocytic lymphohistiocytoses//hemophagocytic lymphohistiocytosis//hemophagocytic syndromes//hemophagocytic syndrome//lymphohistiocytoses, hemophagocytic//lymphohistiocytosis, hemophagocytic//familial hemophagocytic lymphohistiocytosis//haemophagocytic syndrome	UNC13D;STXBP2;STX11;PRF1	UNC13D;STXBP2;STX11;PRF1	https://raresource.nih.gov/literature/disease/0006589	0006589	608898	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"	0	0	8282
Essential thrombocythemia	autosomal dominant thrombocytoses//autosomal dominant thrombocytosis//dominant thrombocytoses, autosomal//dominant thrombocytosis, autosomal//et//essential thrombocythemia//essential thrombocythemias//essential hemorrhagic thrombocythemia//essential thrombocythaemia//essential thrombocythemia (clinical disorder)//essential thrombocytosis//hemorrhagic thrombocythemia//hemorrhagic thrombocythemias//idiopathic thrombocythemia//idiopathic thrombocythemias//idiopathic hemorrhagic thrombocythemia//primary thrombocythemia//primary thrombocythemias//primary thrombocytoses//primary thrombocytosis//thrombocythemia, essential//thrombocythemia, hemorrhagic//thrombocythemia, idiopathic//thrombocythemia, primary//thrombocythemias, essential//thrombocythemias, hemorrhagic//thrombocythemias, idiopathic//thrombocythemias, primary//thrombocytoses, autosomal dominant//thrombocytoses, primary//thrombocytosis, autosomal dominant//thrombocytosis, primary//essential thrombocytemia//familial thrombocytosis//hereditary thrombocythemia	MPL;TP53;JAK2;CALR;TET2;SH2B3	MPL;TP53;JAK2;CALR;TET2;SH2B3	https://raresource.nih.gov/literature/disease/0006594	0006594	614521	3318	C0040028	D013920		MPL proto-oncogene, thrombopoietin receptor;tumor protein p53;Janus kinase 2;calreticulin;tet methylcytosine dioxygenase 2;SH2B adaptor protein 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Essential thrombocythemia"	0	0	8038
Adult hepatocellular carcinoma	adult hcc//ca - liver cancer//ca liver - primary//cancer of the liver//cancer, hepatic//cancer, hepatocellular//cancer, liver//cancers, hepatic//cancers, hepatocellular//cancers, liver//hepatic cancers//hepatocellular cancer//hepatocellular cancers//liver cancers//primary liver carcinoma//primary malignant liver neoplasm//primary malignant neoplasm of liver//primary cancer of liver//primary liver cancer//primary tumor of the liver//rare tumor of liver and intrahepatic biliary tract//resectable hepatic malignant neoplasm//resectable malignant liver neoplasm//resectable malignant neoplasm of liver//cancer of liver//hepatic cancer//hepatic neoplasm//liver cancer//malignant hepato-biliary neoplasm//malignant liver neoplasm//malignant neoplasm of liver//malignant neoplasm of liver, not specified as primary or secondary//malignant neoplasm of liver, primary//malignant tumor of liver//neoplasm of liver//non-resectable primary hepatic malignant neoplasm//resectable malignant neoplasm of the liver	EGF;TSC1;PDGFRL;PIK3CA;AXIN1;TP53;CTNNB1;TSC2;CASP8	EGF;TSC1;PDGFRL;PIK3CA;AXIN1;TP53;CTNNB1;TSC2;CASP8	https://raresource.nih.gov/literature/disease/0006608	0006608	114550	210159				epidermal growth factor;TSC complex subunit 1;platelet derived growth factor receptor like;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha;axin 1;tumor protein p53;catenin beta 1;TSC complex subunit 2;caspase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult hepatocellular carcinoma"	0	0	29728
Hereditary coproporphyria	berger-goldberg syndrome//coproporphyrinogen oxidase deficiency//cpo - coproporphyrinogen oxidase deficiency//cpo deficiency//cpox deficiency//cpro deficiency//cpx deficiency//coproporphyria//coproporphyria hereditary//deficiency, coproporphyrinogen oxidase//hcp//hcp - hereditary coproporphyria//harderoporphyria//hereditary coproporphyria//hereditary coproporphyria porphyria//porphyria hepatica ii//porphyria hepatica coproporphyria//coproporphyria, hereditary//coproporphyria, hereditary; hcp	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"	0	0	525
Hereditary elliptocytosis	congenital elliptocytosis//elliptocytoses, hereditary//elliptocytosis//elliptocytosis (congenital)//elliptocytosis, hereditary//he//he - hereditary elliptocytosis//hereditary elliptocytoses//hereditary elliptocytosis//hereditary ovalocytoses//hereditary ovalocytosis//hereditary pyropoikilocytosis//ovalocytoses, hereditary//ovalocytosis (congenital) (hereditary)//ovalocytosis, hereditary//ovalocytosis	SPTA1;EPB41;GYPC;SPTB	SPTA1;EPB41;GYPC;SPTB	https://raresource.nih.gov/literature/disease/0006621	0006621	617948	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"	0	0	4325
Hereditary fructose intolerance	aldb - aldolase b deficiency//aldb deficiency//aldob deficiency//aldob deficiencies//aldolase b deficiency//aldolase b deficiencies//aldolase deficiencies, fructose-1,6-biphosphate//aldolase deficiencies, fructose-1-phosphate//aldolase deficiency, fructose-1,6-biphosphate//aldolase deficiency, fructose-1-phosphate//deficiencies, aldob//deficiencies, aldolase b//deficiencies, fructose-1,6-biphosphate aldolase//deficiencies, fructose-1-phosphate aldolase//deficiency, aldob//deficiency, aldolase b//deficiency, fructose-1,6-biphosphate aldolase//deficiency, fructose-1-phosphate aldolase//fructose-1,6-bisphosphate aldolase b deficiency//fructose-1-phosphate aldolase deficiency//fructosemia//fructosaemia//fructose 1 phosphate aldolase deficiency//fructose 1,6 biphosphate aldolase deficiency//fructose 1,6 bisphosphate aldolase b deficiency//fructose aldolase b deficiency//fructose intolerance, hereditary//fructose intolerances//fructose intolerances, hereditary//fructose intolerance//fructose malabsorption//fructose-1,6-biphosphate aldolase deficiencies//fructose-1,6-biphosphate aldolase deficiency//fructose-1-phosphate aldolase deficiencies//fructose-biphosphate aldolase b deficiency//fructosemias//hfi//hereditary fructose intolerance//hereditary fructose intolerances//hereditary fructose-1-phosphate aldolase deficiency//hereditary fructosemia//hereditary fructosuria//intolerance, fructose//intolerances, fructose//hereditary fructose intolerance syndrome	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 fructose intolerance"	0	0	694
Hereditary hemorrhagic telangiectasia	eng-related hereditary hemorrhagic telangiectasia//hht//hht - hereditary hemorrhagic telangiectasia//hht1//hemorrhagic telangiectasia, hereditary//hereditary hemorrhagic telangiectasia//orw disease//osler-rendu-weber disease//osler disease//osler rendu disease//osler rendu weber disease//osler weber rendu syndrome//osler weber rendu syndrome type 1//osler hemorrhagic telangiectasia syndrome//osler's disease//osler-rendu disease//osler-rendu-weber syndrome//osler-weber-rendu syndrome//osler-weber-rendu disease//rendu osler weber disease//rendu-osler disease//rendu-osler-weber disease//telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber//telangiectasia, hereditary hemorrhagic, type 1//weber osler disease//weber osler syndrome//weber-osler disease//weber-osler syndrome//hereditary hemorrhagic telangiectasia type 1//telangiectasia, hereditary hemorrahagic, of rendu, osler//telangiectasia, hereditary hemorrhagic//telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber; hht//telangiectasia, hereditary hemorrhagic, type 1; hht1	ENG;SMAD4;GDF2;ACVRL1	ENG;SMAD4;GDF2;ACVRL1	https://raresource.nih.gov/literature/disease/0006626	0006626	600376	774	C0039445			endoglin;SMAD family member 4;growth differentiation factor 2;activin A receptor like type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary hemorrhagic telangiectasia"	0	0	3580
Hereditary chronic pancreatitis	autosomal dominant hereditary pancreatitis//familial pancreatitis//hp//hpc//hereditary chronic pancreatitis//hereditary pancreatitis//pancreatitis, calcific//pancreatitis, chronic//pancreatitis, chronic, protection against//pancreatitis, chronic, susceptibility to//pctt//pancreatitis, hereditary//pancreatitis, calcific, included//pancreatitis, chronic pancreatitis, chronic, susceptibility to, included//pancreatitis, chronic, protection against, included//pancreatitis, hereditary; pctt	PRSS2;CASR;CFTR;SPINK1;PRSS1;CPA1;CTRC	PRSS2;CASR;CFTR;SPINK1;PRSS1;CPA1;CTRC	https://raresource.nih.gov/literature/disease/0006632	0006632	167800	676	C0341474			serine protease 2;calcium sensing receptor;CF transmembrane conductance regulator;serine peptidase inhibitor Kazal type 1;serine protease 1;carboxypeptidase A1;chymotrypsin C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary chronic pancreatitis"	0	0	5099
Hereditary sensory and autonomic neuropathy type 1	acrodystrophic neuropathy//autosomal dominant sensory neuropathy//dominant hereditary sensory neuropathy, type i//hsan 1//hsan i//hsan type i//hsan1//hsn type i//hsn1//hereditary sensory autonomic neuropathy, type 1//hereditary sensory neuropathy type i//hereditary sensory neuropathy type ia//hereditary sensory and autonomic neuropathy type i//hereditary sensory and autonomic neuropathy, type i//hereditary sensory neuropathy type 1//neuropathy hereditary sensory and autonomic type 1//neuropathy hereditary sensory radicular, autosomal dominant//neuropathy, hereditary sensory and autonomic, type i//neuropathy, hereditary sensory radicular, autosomal dominant//neuropathy, hereditary sensory, type i//type i, hsan//type i, hsn//hereditary sensory and autonomic neuropathy type 1	ATL3;ATL1;SPTLC2;SPTLC1	ATL3;ATL1;SPTLC2;SPTLC1	https://raresource.nih.gov/literature/disease/0006635	0006635	613640	36386	C0020071			atlastin GTPase 3;atlastin GTPase 1;serine palmitoyltransferase long chain base subunit 2;serine palmitoyltransferase long chain base subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 1"	0	0	131
Hereditary spherocytosis	ank1 hereditary spherocytosis//ank1-related hereditary spherocytosis//ank1-related spherocytosis//acholuric (familial) jaundice//acholuric jaundice//chronic acholuric jaundice//congenital (spherocytic) hemolytic icterus//congenital spherocytic hemolytic anemia//congenital spherocytosis//congenital hemolytic jaundice//debrie's familial haemolytic disease//familial acholuric jaundice//familial spherocytosis//hs//hs - hereditary spherocytosis//hs1//hereditary spherocytoses//minkowski chauffard syndrome//minkowski-chauffard disease//minkowski-chauffard haemolytic jaundice//minkowski-chauffard syndrome//minkowski-chauffard-gã¤nsslen syndrome//minkowski-chauffard-gänsslen syndrome//minkowsky-chauffard syndrome//sph//sph1//spherocytosis, hereditary, 1//spherocytic anemia//spherocytoses, hereditary//spherocytosis, hereditary//hereditary spherocytosis//hereditary spherocytosis 1//hereditary spherocytosis caused by mutation in ank1//hereditary spherocytosis type 1//spherocytosis, type 1//spherocytosis, type 1; sph1	ANK1;EPB42;SLC4A1;SPTB;SPTA1	ANK1;EPB42;SLC4A1;SPTB;SPTA1	https://raresource.nih.gov/literature/disease/0006639	0006639	270970	822	C0037889	D013103		ankyrin 1;erythrocyte membrane protein band 4.2;solute carrier family 4 member 1 (Diego blood group);spectrin beta, erythrocytic;spectrin alpha, erythrocytic 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary spherocytosis"	0	0	8340
Herpes simplex virus encephalitis	acute necrotizing encephalitis, herpetic//encephalitides, herpes simplex//encephalitides, herpetic//encephalitis, herpes//encephalitis, herpetic//hse//hsv encephalitis//hsve//herpes encephalitis//herpes simplex encephalitides//herpes simplex encephalitis//herpes simplex meningoencephalitides//herpes simplex meningoencephalitis//herpes simplex meningo-encephalitis//herpes simplex neuroinvasion//herpetic acute necrotizing encephalitis//herpetic encephalitides//herpetic encephalitis//herpetic meningoencephalitides//herpetic meningoencephalitis//iiae1//meningoencephalitides, herpes simplex//meningoencephalitides, herpetic//meningoencephalitis, herpes simplex//meningoencephalitis, herpes simplex virus//meningoencephalitis, herpetic//simplexvirus caused infectious encephalitis//simplexvirus infectious encephalitis//unc93b1 herpes simplex encephalitis//encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; iiae1//encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1//encephalopathy, acute, infection-induced, susceptibility to, 1//herpes simplex encephalitis caused by mutation in unc93b1//herpes simplex encephalitis, susceptibility to, 1	TRAF3;TBK1;TLR3;TICAM1;UNC93B1	TRAF3;TBK1;TLR3;TICAM1;UNC93B1	https://raresource.nih.gov/literature/disease/0006649	0006649	617900	1930	C0019385			TNF receptor associated factor 3;TANK binding kinase 1;toll like receptor 3;toll like receptor adaptor molecule 1;unc-93 homolog B1, TLR signaling regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Herpes simplex virus encephalitis"	0	0	2953
Hirschsprung disease	aganglionic megacolon//aganglionosis//aganglionosis, colonic//aganglionosis, rectosigmoid//aganglionosis, rectosigmoid colon//aganglionosis, total colonic//colonic aganglionosis//congenital (aganglionic) megacolon//congenital intestinal aganglionosis//congenital megacolon//congenital aganglionic megacolon//disease, hirschsprung//disease, hirschsprung's//hd - hirschsprung's disease//hscr//hscr 1//hirschsprung disease 1//hirschsprung disease susceptibility//hirschsprung disease type 1//hirschsprung's disease//hirschsprungs disease//megacolon, aganglionic//megacolon, congenital//rectosigmoid aganglionosis//rectosigmoid colon aganglionosis//total colonic aganglionosis//macrocolon//pelvirectal achalasia//total intestinal aganglionosis	ERBB2;ABCD1;NRTN;ATP7A;RET;GDNF;SEMA3C;SEMA3D;SMO;SREBF1;ECE1;EDN3;EDNRB;ERBB3	ERBB2;ABCD1;NRTN;ATP7A;RET;GDNF;SEMA3C;SEMA3D;SMO;SREBF1;ECE1;EDN3;EDNRB;ERBB3	https://raresource.nih.gov/literature/disease/0006660	0006660	611644	388	C0019569	D006627		erb-b2 receptor tyrosine kinase 2;ATP binding cassette subfamily D member 1;neurturin;ATPase copper transporting alpha;ret proto-oncogene;glial cell derived neurotrophic factor;semaphorin 3C;semaphorin 3D;smoothened, frizzled class receptor;sterol regulatory element binding transcription factor 1;endothelin converting enzyme 1;endothelin 3;endothelin receptor type B;erb-b2 receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hirschsprung disease"	0	0	515
Histidinemia	deficiency in histidase//deficiency of histidase//deficiency of histidinase//deficiency of histidine a-deaminase//deficiency of histidine ammonia-lyase//hal deficiency//his deficiency//histidase deficiency//histidine ammonia-lyase deficiency//high blood histidine level//histidinuria//hyperhistidinemia//histidinemia	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"	0	0	151
Holt-Oram syndrome	atriodigital dysplasia//atrio digital syndrome//atrio-digital syndrome//atriodigital dysplasia type 1//cardiac-limb syndrome//cervico-oculo-acoustic syndrome//heart-hand syndrome//holt-oram syndrome; hos//hos//hos 1//hos1//heart-hand syndrome, type 1//heart-hand syndrome type 1//holt oram syndrome//tbx5-related holt-oram syndrome//ventriculo-radial syndrome//shoulder and thorax deformity-congenital heart disease 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"	0	0	569
Classic homocystinuria	cbs deficiency//cbs deficiencies//cystathionine beta-synthase deficiency//cystathionine beta synthase deficiency//cystathionine beta synthase deficiency disease//cystathionine beta-synthase deficiency disease//deficiencies, cbs//deficiency disease, cystathionine beta synthase//deficiency disease, cystathionine beta-synthase//deficiency of beta-thionase//deficiency of methylcysteine synthase//deficiency of serine sulfhydrase//deficiency, cbs//homocystinuria with or without response to pyridoxine//hyperhomocysteinemia, thrombotic, cbs-related//homocystinuria caused by cystathionine beta-synthase deficiency//homocystinuria due to cbs deficiency//homocystinuria due to cystathionine beta-synthase deficiency//classic homocystinuria	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"	0	0	298
Huntington disease	akinetic rigid variant huntington dis//akinetic rigid variant of huntington disease//akinetic-rigid variant of huntington disease//chorea, chronic progressive hereditary (huntington)//chorea, huntington//chorea, huntington's//chronic progressive hereditary chorea (huntington)//chronic progressive chorea//chronic progressive hereditary chorea//hc - huntington chorea//hd//hd - huntington chorea//huntington chorea//huntington dis//huntington dis akinetic rigid variant//huntington dis juvenile//huntington dis juvenile onset//huntington dis late onset//huntingtons dis//huntington chronic progressive hereditary chorea//huntington disease, akinetic rigid variant//huntington disease, akinetic-rigid variant//huntington disease, juvenile//huntington disease, juvenile onset//huntington disease, juvenile-onset//huntington disease, late onset//huntington disease, late-onset//huntington disease; hd//huntington's//huntington's chorea//huntington's disease//huntington's chorea (disorder)//huntington's dementia//huntington's disease pathway//huntingtons disease//juvenile huntington dis//juvenile onset huntington dis//juvenile huntington disease//juvenile onset huntington disease//juvenile-onset huntington disease//late onset huntington dis//late onset huntington disease//late-onset huntington disease//progressive chorea, chronic hereditary (huntington)//progressive chorea, hereditary, chronic (huntington)	SLC2A3;HTT	SLC2A3;HTT	https://raresource.nih.gov/literature/disease/0006677	0006677	143100	399	C0020179	D006816		solute carrier family 2 member 3;huntingtin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huntington disease"	0	0	31708
Hydranencephaly	absence of cerebral hemispheres, congenital//cerebral hemispheres, absence, congenital//congenital absence of cerebral hemispheres//hemihydranencephalies//hemihydranencephaly//hydrancephaly//hydranencephalies//hydranencephaly with proliferative vasculopathy//hydroanencephaly//hydranencephaly//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"	0	0	479
Hydrolethalus	hls//hydrolethalus syndrome//salonen-herva-norio syndrome//syndromic hydrocephalus//hydrolethalus	KIF7;HYLS1	KIF7;HYLS1	https://raresource.nih.gov/literature/disease/0006683	0006683	236680	2189	C2931104	C536079		kinesin family member 7;HYLS1 centriolar and ciliogenesis associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydrolethalus"	0	0	162
Dysbetalipoproteinemia	apolipoprotein e, deficiency or defect of//apolipoprotein e deficiency//broad-betalipoproteinemia//broad beta disease//broad-beta hyperlipoproteinemia//broad-beta disease//coronary artery disease, severe, susceptibility to//dysbetalipoproteinemia due to defect in apolipoprotein e-d//dysbetalipoproteinemia, familial//familial hyperbeta- and prebetalipoproteinemia//familial hypercholesterolemia with hyperlipemia//floating-betalipoproteinemia//familial dysbetalipoproteinemia//familial dyslipidemia type 3//familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia//familial hyperlipoproteinemia type 3//floating beta disease//fredrickson type iii hyperlipoproteinemia//hlp type 3//hyperlipemia with familial hypercholesterolemic xanthomatosis//hyperlipidemia type 3//hyperlipoproteinemia type iii//hyperlipoproteinemia type 3//hyperlipoproteinemia, broad beta//hyperlipoproteinemia, broad-beta//hyperlipoproteinemia, type iii//hyperlipoproteinemias, type iii//ldlcq5//low density lipoprotein cholesterol level quantitative trait locus 5//primary dysbetalipoproteinemia//remnant disease//remnant hyperlipidemia//remnant hyperlipoproteinemia//remnant removal disease//type iii hyperlipoproteinemia//type iii hyperlipoproteinemias//carbohydrate induced hyperlipemia//dysbetalipoproteinemia//dyslipidemia type 3//familial hypercholesterolaemia with hyperlipaemia//familial type 3 hyperlipoproteinemia//familial type 3 hyperlipoproteinemia (disorder)	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[]=Dysbetalipoproteinemia"	0	0	611
Familial apolipoprotein A5 deficiency	familial apoa5 deficiency//familial apolipoprotein a-v deficiency//familial type v hyperlipoproteinemia//fredrickson type v lipidemia//fredrickson type v hyperlipoproteinemia//fredrickson type v lipaemia//hlp type 5//hyperchylomicronemia with hyperprebetalipoproteinemia, familial//hyperchylomicronemia, late-onset//hyperlipemia, combined fat and carbohydrate-induced//hyperlipemia, mixed//hyperlipidemia, type v//hyperchylomicronemia late onset//hyperchylomicronemia late onsets//hyperchylomicronemia, late onset//hyperchylomicronemias, late-onset//hyperlipemia combined fat and carbohydrate-induced//hyperlipemia mixed//hyperlipemia, combined fat and carbohydrate induced//hyperlipemias, mixed//hyperlipidemia type v//hyperlipidemias, type v//hyperlipoproteinemia type 5//hyperlipoproteinemia type 5s//hyperlipoproteinemia type v//hyperlipoproteinemia, type v//hyperlipoproteinemias, type v//late-onset hyperchylomicronemia//late-onset hyperchylomicronemias//mixed hyperlipemia//mixed hyperlipemias//type v hyperlipidemia//type v hyperlipidemias//type v hyperlipoproteinemia//type v hyperlipoproteinemias//type v lipidemia//familial hyperlipoproteinemia type v//familial type 5 hyperlipoproteinemia//familial type 5 hyperlipoproteinemia (disorder)//hyperlipidemia, type 5//hyperlipoproteinemia, type 5//major hyperlipidemia	APOA5	APOA5	https://raresource.nih.gov/literature/disease/0006704	0006704	144650	530849				apolipoprotein A5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial apolipoprotein A5 deficiency"	0	0	147
Hyperprolinemia type 2	1 alpha pyrroline-5-carboxylate dehydrogenase deficiency//1-pyrroline-5-carboxylate dehydrogenase deficiency//aldh4a1 hyperprolinemia//deficiency of pyrroline-5-carboxylate reductase//delta-1-pyrroline-5-carboxylate dehydrogenase deficiency//hpii//hyrpro2//hyperprolinemia type ii//hyperprolinemia, type ii//pyrroline carboxylate dehydrogenase deficiency//pyrroline-5-carboxylate dehydrogenase deficiency//pyrroline-5-carboxylate reductase deficiency//type 2 hyperprolinemia//delta'-pyrroline-5-carboxylate dehydrogenase deficiency//delta1-pyrroline-5-carboxylate dehydrogenase deficiency//hyperprolinemia caused by mutation in aldh4a1//hyperprolinemia type 2//hyperprolinemia, type 2//hyperprolinemia, type ii; hyrpro2	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"	0	0	278
Hypochondroplasia	hch//hypochondrodysplasia//hypochondroplasia//hypochondroplasia; hch	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0006724	0006724	146000	429	C0410529			fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypochondroplasia"	0	0	387
Hypocomplementemic urticarial vasculitis	anti-c1q vasculitis//hypocomplementemic vasculitis//mac duffie hypocomplementemic urticarial vasculitis//mac duffie syndrome//mcduffie hypocomplementemic urticarial vasculitis//mcduffie syndrome//hypocomplementemic urticarial vasculitis	DNASE1L3	DNASE1L3	https://raresource.nih.gov/literature/disease/0006725	0006725		36412				deoxyribonuclease 1 like 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypocomplementemic urticarial vasculitis"	0	0	106
Hypokalemic periodic paralysis	familial hypokalemic periodic paralysis//hkpp//hokpp//hokpp1//hypokalemic periodic paralysis//hypokpp//hypopp//hypokalemic periodic paralysis, familial//hypokalemic familial periodic paralysis//paralysis, hypokalemic periodic//periodic paralysis hypokalemic//periodic paralysis, hypokalemic//periodic paralysis- hypokalemic//periodic paralysis- hypokalemics//periodic paralysis i//primary hypokalemic periodic paralysis//westphal disease//westphall disease//familial periodic paralysis//familial periodic paralysis (& [hypokalaemic])//hypokalemic periodic paralysis, type 1//hypokalemic periodic paralysis, type 1; hokpp1//periodic hypokalemic paralysis	SCN4A;KCNE3;CACNA1S	SCN4A;KCNE3;CACNA1S	https://raresource.nih.gov/literature/disease/0006729	0006729	613345	681	C0238358	D020514		sodium voltage-gated channel alpha subunit 4;potassium voltage-gated channel subfamily E regulatory subunit 3;calcium voltage-gated channel subunit alpha1 S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypokalemic periodic paralysis"	0	0	808
Panhypopituitarism, x-linked	phpx//pituitary dwarfism iv, formerly//panhypopituitarism x-linked//panhypopituitarism, x-linked//pituitary dwarfism iv (formerly)//pituitary dwarfism iv//formerly//panhypopituitarism, x-linked; phpx	SOX3	SOX3	https://raresource.nih.gov/literature/disease/0006737	0006737		90695	C0342376			SRY-box transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Panhypopituitarism, x-linked"	0	0	10
Hypoplastic left heart syndrome	gja1 hypoplastic left heart syndrome//hlh - hypoplastic left heart syndrome//hlhs//hlhs - hypoplastic left heart syndrome//hlhs1//heart left ventricle hypoplasia//hypoplastic left heart//left heart hypoplasia syndrome//left heart syndrome, hypoplastic//left ventricular hypoplasia//underdeveloped left heart//hypoplastic left heart syndrome//hypoplastic left heart syndrome 1//hypoplastic left heart syndrome 1; hlhs1//hypoplastic left heart syndrome caused by mutation in gja1//hypoplastic left heart syndrome type 1	NKX2-5;GJA1	NKX2-5;GJA1	https://raresource.nih.gov/literature/disease/0006739	0006739	614435	2248	C0152101	D018636		NK2 homeobox 5;gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypoplastic left heart syndrome"	0	0	3765
Mucolipidosis type II	deficiency of n-acetylglucosamine-1-phosphotransferase//gnpta//gnptab-related mucolipidoses//i cell disease//i-cell disease//i-cell diseases//i-cell - inclusion cell disease//icd//inclusion cell disease//inclusion cell diseases//inclusion-cell disease//leroy disease//ml 2//ml 2 alpha/beta//ml ii//ml ii alpha/beta//ml disorder type 2//mucolipidosis ii//mucolipidoses, type ii//mucolipidosis 2//mucolipidosis ii alpha beta//mucolipidosis type ii//mucolipidosis type ii alpha/beta//mucolipidosis, type ii//n-acetylglucosamine 1-phosphotransferase deficiency//n-acetylglucosamine 1phosphotransferase deficiency//n-acetylglucosamine-1-phosphotransferase deficiency//type ii mucolipidoses//type ii mucolipidosis//mucolipidosis 2 alpha/beta//mucolipidosis ii alpha/beta	GNPTAB	GNPTAB	https://raresource.nih.gov/literature/disease/0006749	0006749	252500	576	C2931894	C538602		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mucolipidosis type II"	0	0	1535
Idiopathic juvenile osteoporosis	childhood-onset primary osteoporosis//idiopathic juvenile osteoporosis//ijo//idiopathic osteoporosis//juvenile primary osteoporosis//juvenile osteoporosis//osteoporosis, juvenile//pediatric osteoporosis	WNT1;WNT3A;DKK1	WNT1;WNT3A;DKK1	https://raresource.nih.gov/literature/disease/0006760	0006760	259750	85193	C0264080			Wnt family member 1;Wnt family member 3A;dickkopf WNT signaling pathway inhibitor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic juvenile osteoporosis"	0	0	386
Incontinentia pigmenti	bloch-sulzberger syndrome//bloch sulzberger syndrome//bloch-siemens syndrome//bloch-siemens-sulzberger syndrome//incontinentia pigmenti, familial male-lethal type//incontinentia pigmenti, type ii//incontinentia pigmenti, type ii, formerly//ip//ip - incontinentia pigmenti//ip2 (formerly)//ip2, formerly//incontinentia pigmenti//incontinentia pigmenti of bloch-sulzberger//incontinentia pigmenti syndrome//incontinentia pigmenti type 2 (formerly)//syndrome, bloch-sulzberger//incontinentia pigmenti; ip	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0006778	0006778	308300	464	C0022283	D007184		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Incontinentia pigmenti"	0	0	3927
Right sided atrial isomerism	asplenia with cardiovascular anomalies//asplenia syndrome//bilateral right-sidedness sequence//heterotaxy, visceroatrial, autosomal recessive//ivemark syndrome//isomerism of right atrial appendage//polyasplenia//polysplenia syndrome//rai//right isomerism//splenic agenesis syndrome//vah, autosomal recessive//right atrial isomerism//right atrial isomerism (disease)//right atrial isomerism; rai	GDF1	GDF1	https://raresource.nih.gov/literature/disease/0006795	0006795	208530	97548	C0175707			growth differentiation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Right sided atrial isomerism"	0	0	182
Jackson-Weiss syndrome	acrocephalosyndactyly jackson weiss type//craniosynostosis, midfacial hypoplasia, and foot abnormalities//craniosynostosis - midfacial hypoplasia - foot abnormalities//craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome//enlarged great toes and craniofacial abnormalities//fgfr2-related craniosynostosis//jws//jackson-weiss syndrome; jws	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0006796	0006796	123150	1540	C0795998	C537559		fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Jackson-Weiss syndrome"	0	0	37
Autosomal recessive spondylocostal dysostosis	arsd//costovertebral dysplasia//dll3-related spondylocostal dysostosis, autosomal recessive//jarcho-levin syndrome//scd//scdo//scdo1//scdo1 spondylocostal dysostosis 1//spondylothoracic dysostosis//spondylothoracic dysplasia//spondylocostal dysostosis 1, autosomal recessive//spondylocostal dysostosis 2, autosomal recessive//spondylocostal dysostosis 3, autosomal recessive//spondylocostal dysostosis//spondylocostal dysostosis 1//spondylocostal dysostosis 1 autosomal recessive//spondylocostal dysplasia, recessive form//vertebral anomalies//autosomal recessive spondylocostal dysostosis//spondylocostal dysostosis 1, autosomal recessive; scdo1//spondylocostal dysostosis, autosomal recessive//spondylocostal dysostosis, autosomal recessive 3//spondylocostal dysplasia	HES7;RIPPLY2;DLL3;MESP2;LFNG	HES7;RIPPLY2;DLL3;MESP2;LFNG	https://raresource.nih.gov/literature/disease/0006798	0006798	608681	2311	C2931020	C537565		hes family bHLH transcription factor 7;ripply transcriptional repressor 2;delta like canonical Notch ligand 3;mesoderm posterior bHLH transcription factor 2;LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spondylocostal dysostosis"	0	0	14579
Autosomal dominant hyper-IgE syndrome	ad hyperimmunoglobulin e syndrome//ad-hies//autosomal dominant hies//autosomal dominant hiess//autosomal dominant hyper ige syndrome//autosomal dominant hyperimmunoglobulin e syndrome//buckley syndrome//hies autosomal dominant//hies, autosomal dominant//hies1//hiess, autosomal dominant//hyper-ige syndrome, autosomal dominant//hyper ig e syndrome, autosomal dominant//hyper ige syndrome, autosomal dominant//hyper immunoglobulin e syndrome, autosomal dominant//hyper-ige recurrent infection syndrome//hyper-ige recurrent infection syndrome 1//hyper-ige recurrent infection syndrome, autosomal dominant//hyper-immunoglobulin e syndrome, autosomal dominant//hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant//hyperimmunoglobulin e syndrome type 1//hyperimmunoglobulin e-recurrent infection syndrome//job syndrome//job syndrome autosomal dominant//job's syndrome//stat3 deficiency//autosomal dominant hyper-ige syndrome//hyperimmunoglobulin e syndrome	STAT3	STAT3	https://raresource.nih.gov/literature/disease/0006800	0006800	147060	2314	C3887645			signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant hyper-IgE syndrome"	0	0	545
Joubert syndrome	cerebellooculorenal syndrome 1//cerebelloparenchymal disorder iv//cors1//cpd iv//cpd4//cerebellar vermis agenesis//cerebelloparenchymal disorder 4//classic joubert syndrome//inpp5e joubert syndrome//jbts//jbts1//joubert syndrome//joubert-boltshauser syndrome//joubert syndrome 1//joubert syndrome 1; jbts1//joubert syndrome caused by mutation in inpp5e//joubert syndrome type 1//joubert syndrome type a//pure joubert syndrome	CSPP1;PIBF1;CEP120;TMEM67;MKS1;KATNIP;ARL3;CEP41;B9D1;CEP104;ARL13B;HYLS1;AHI1;TCTN2;CPLANE1;TCTN1;CBY1;TMEM237;SUFU;KIAA0586;ARMC9;INPP5E	CSPP1;PIBF1;CEP120;TMEM67;MKS1;KATNIP;ARL3;CEP41;B9D1;CEP104;ARL13B;HYLS1;AHI1;TCTN2;CPLANE1;TCTN1;CBY1;TMEM237;SUFU;KIAA0586;ARMC9;INPP5E	https://raresource.nih.gov/literature/disease/0006802	0006802	618161	475				centrosome and spindle pole associated protein 1;progesterone immunomodulatory binding factor 1;centrosomal protein 120;transmembrane protein 67;MKS transition zone complex subunit 1;katanin interacting protein;ADP ribosylation factor like GTPase 3;centrosomal protein 41;B9 domain containing 1;centrosomal protein 104;ADP ribosylation factor like GTPase 13B;HYLS1 centriolar and ciliogenesis associated;Abelson helper integration site 1;tectonic family member 2;ciliogenesis and planar polarity effector complex subunit 1;tectonic family member 1;chibby family member 1, beta catenin antagonist;transmembrane protein 237;SUFU negative regulator of hedgehog signaling;KIAA0586;armadillo repeat containing 9;inositol polyphosphate-5-phosphatase E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome"	0	0	899
Infantile systemic hyalinosis	fibromatosis hyalinica multiplex juvenilis//fibromatosis juvenile hyaline//fibromatosis syndrome, hyaline//fibromatosis syndromes, hyaline//fibromatosis, juvenile hyaline//hfs//hyalinosis, systemic//hyaline fibromatosis juvenile//hyaline fibromatosis syndromes//hyaline fibromatosis, juvenile//hyaline fibromatosis syndrome//hyalinoses, infantile systemic//hyalinoses, juvenile//hyalinoses, systemic//hyalinoses, systemic juvenile//hyalinosis, infantile systemic//hyalinosis, inherited systemic//hyalinosis, juvenile//hyalinosis, systemic juvenile//infantile systemic hyalinoses//infantile systemic hyalinosis//infantile systemic hyalinosis (former subtype)//inherited systemic hyalinosis//juvenile hyaline fibromatoses//juvenile hyaline fibromatosis//juvenile hyalinoses//juvenile hyalinoses, systemic//juvenile hyalinosis//juvenile hyalinosis, systemic//juvenile hyaline fibromatosis (former subtype)//mesenchymal dysplasia//molluscum fibrosum//murray syndrome//puretic syndrome//puretic syndromes//syndrome, hyaline fibromatosis//syndrome, murray//syndrome, puretic//syndromes, hyaline fibromatosis//syndromes, puretic//systemic hyalinoses//systemic hyalinoses, infantile//systemic hyalinosis//systemic hyalinosis, infantile//systemic juvenile hyalinoses//systemic juvenile hyalinosis//hyaline fibromatosis syndrome; hfs	ANTXR2	ANTXR2	https://raresource.nih.gov/literature/disease/0006807	0006807	228600	2176				ANTXR cell adhesion molecule 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile systemic hyalinosis"	0	0	1622
Juvenile myoclonic epilepsy	adolescent myoclonic epilepsy//efhc1-related juvenile myoclonic epilepsy//ejm//ejm1//epilepsy, adolescent myoclonic//epilepsy, juvenile myoclonic//epilepsy, myoclonic juvenile//epilepsy, myoclonic, juvenile//impulsive petit mal epilepsy//impulsive petit mal, janz//impulsive petit mal of janz//impulsive petit-mal epilepsy//janz syndrome//jme//jme (juvenile myoclonic epilepsy)//jme - juvenile myoclonic epilepsy//jmes (juvenile myoclonic epilepsy)//janz impulsive petit mal//janz juvenile myoclonic epilepsy//juvenile epilepsy, myoclonic//juvenile myoclonic epilepsy//juvenile myoclonic epilepsy of janz//juvenile myoclonus epilepsy//myoclonic epilepsy, juvenile//myoclonic epilepsy, juvenile, susceptibility to, 1//myoclonic epilepsy, adolescent//myoclonic epilepsy, juvenile, 1//myoclonic juvenile epilepsy//myoclonic epilepsy of adolescence//petit mal, impulsive//petit mal, impulsive, janz//epilepsy, myoclonic juvenile; ejm	GABRA1;GABRD;CLCN2;KCNQ3;CACNB4;JRK;CILK1;EFHC1	GABRA1;GABRD;CLCN2;KCNQ3;CACNB4;JRK;CILK1;EFHC1	https://raresource.nih.gov/literature/disease/0006808	0006808	611136	307	C0270853	D020190		gamma-aminobutyric acid type A receptor subunit alpha1;gamma-aminobutyric acid type A receptor subunit delta;chloride voltage-gated channel 2;potassium voltage-gated channel subfamily Q member 3;calcium voltage-gated channel auxiliary subunit beta 4;Jrk helix-turn-helix protein;ciliogenesis associated kinase 1;EF-hand domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile myoclonic epilepsy"	0	0	1282
Kabuki syndrome	kabuk1//kabuki make-up syndrome//kabuki syndrome//kabuki syndrome 1//kabuki syndrome 1; kabuk1//kms//kmt2d-related kabuki syndrome//kabuki makeup syndrome//kabuki make up syndrome//kabuki syndrome type 1//niikawa-kuroki syndrome//nks	KMT2D;KDM6A	KMT2D;KDM6A	https://raresource.nih.gov/literature/disease/0006810	0006810	147920	2322	C0796004	C537705		lysine methyltransferase 2D;lysine demethylase 6A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kabuki syndrome"	0	0	724
Kearns-Sayre syndrome		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"	0	0	771
Kennedy disease	atrophies, x-linked bulbo-spinal//atrophy, muscular, spinobulbar//atrophy, spinobulbar muscular//atrophy, x-linked bulbo-spinal//bulbospinal muscular atrophy, x-linked//bulbospinal neuronopathy, x-linked recessive//bulbo spinal atrophy, x linked//bulbo-spinal atrophies, x-linked//bulbo-spinal atrophy, x-linked//bulbo-spinal atrophy x-linked//bulbospinal muscular atrophy, x linked//bulbospinal neuronopathies//bulbospinal neuronopathy//bulbospinal muscular atrophy//bulbospinal neuronopathy x-linked recessive//kd//kennedy disease//kennedy spinal and bulbar muscular atrophy//kennedy syndrome//kennedy's disease//muscular atrophy, spinobulbar//neuronopathies, bulbospinal//neuronopathy, bulbospinal//sbma//smax1//spinal and bulbar muscular atrophy//spinal and bulbar muscular atrophy, x-linked 1//spinal and bulbar muscular atrophy, x linked 1//spinal and bulbar muscular atrophy x-linked//spinobulbar muscular atrophies//spinobulbar muscular atrophy//x linked bulbo spinal atrophy//x linked spinal and bulbar muscular atrophy//x linked bulbospinal muscular atrophy//x-linked bulbo-spinal atrophies//x-linked bulbo-spinal atrophy//x-linked spinal and bulbar muscular atrophy//x-linked bsma//x-linked bulbospinal muscular atrophy//x-linked bulbospinal amyotrophy//x-linked bulbospinal atrophy//xbsn//spinal and bulbar muscular atrophy, x-linked 1; smax1//spinal and bulbar muscular atrophy, x-linked type 1//spinal bulbar muscular atrophy	AR	AR	https://raresource.nih.gov/literature/disease/0006818	0006818	313200	481	C0752353			androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kennedy disease"	0	0	5609
Muir-Torre syndrome	cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas//cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas//keratoacanthoma//mlh1-related muir-torre syndrome//mrtes//msh2-related muir-torre syndrome//muir-torre syndrome; mrtes//muir torre syndrome//muir-torre type//muir-torré syndrome//multiple keratoacanthoma//multiple keratoacanthoma, muir-torre type//syndrome, muir-torre//torre-muir syndrome//torré-muir syndrome	MSH6;MLH1;MSH2	MSH6;MLH1;MSH2	https://raresource.nih.gov/literature/disease/0006821	0006821	158320	587	C1321489	D055653		mutS homolog 6;mutL homolog 1;mutS homolog 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Muir-Torre syndrome"	0	0	553
Keratosis follicularis spinulosa decalvans	keratosis follicularis spinulosa decalvans cum ophiasi//kfsd//kfsdx//keratosis pilaris decalvans//keratosis follicularis spinulosa decalvans, x-linked; kfsdx//keratosis follicularis spinulosa decalvans//keratosis follicularis spinulosa decalvans, x-linked	SAT1;MBTPS2;LRP1	SAT1;MBTPS2;LRP1	https://raresource.nih.gov/literature/disease/0006829	0006829	612843	2340	C0343057	C536159		spermidine/spermine N1-acetyltransferase 1;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"	0	0	64
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"	0	0	107
Lacrimoauriculodentodigital syndrome	fgf10-related lacrimo-auriculo-dento-digital syndrome//fgfr2-related lacrimo-auriculo-dento-digital syndrome//fgfr3-related lacrimo-auriculo-dento-digital syndrome//lacrimoauriculodentodigital syndrome; ladd//ladd//ladd syndrome//lard syndrome//levy-hollister syndrome//lacrimo-auriculo-dento-digital syndrome//lacrimoauriculodento-digital syndrome//lacrimoauriculoradiodental syndrome//levy hollister syndrome//lacrimoauriculodentodigital syndrome	FGFR2;FGFR3;FGF10	FGFR2;FGFR3;FGF10	https://raresource.nih.gov/literature/disease/0006848	0006848	149730	2363	C0265269			fibroblast growth factor receptor 2;fibroblast growth factor receptor 3;fibroblast growth factor 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lacrimoauriculodentodigital syndrome"	0	0	75
Landau-Kleffner syndrome	adresd//aphasia, acquired, with epilepsy//acquired aphasia with convulsive disorder//acquired epileptic aphasia//acquired epileptiform aphasia//bects//benign epilepsy of childhood with centrotemporal spikes//continuous spike and waves during slow-wave sleep syndrome//csws//cswss//fesd//landau-kleffner syndrome//lks//resdad//rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant//rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant//epilepsy, focal, with speech disorder and with or without intellectual disability//epilepsy, focal, with speech disorder and with or without intellectual disability; fesd//epilepsy, focal, with speech disorder and with or without mental retardation//epilepsy, focal, with speech disorder and with or without mental retardation; fesd	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"	0	0	9263
Langerhans cell histiocytosis	histiocytosis x//langerhans cell granulomatosis	BRAF;NRAS;MAP2K1	BRAF;NRAS;MAP2K1	https://raresource.nih.gov/literature/disease/0006858	0006858	604856	389	C0019621	D006646		B-Raf proto-oncogene, serine/threonine kinase;NRAS proto-oncogene, GTPase;mitogen-activated protein kinase kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Langerhans cell histiocytosis"	0	0	5118
Laron syndrome	complete growth hormone insensitivity//dwarfism ii, pituitary//dwarfism iis, pituitary//dwarfism, laron//gh resistance, primary//gh receptor deficiency//growth hormone insensitivity syndrome//growth hormone receptor deficiency//growth hormone receptor defect//laron dwarfism//laron type dwarfism i//laron type pituitary dwarfism i//laron-type dwarfism//laron-type isolated somatotropin defect//pituitary dwarfism ii//pituitary dwarfism iis//primary gh resistance//primary gh insensitivity//primary growth hormone resistance//primary growth hormone insensitivity//severe gh insensitivity//short stature due to growth hormone resistance//syndrome, laron//pituitary dwarfism 2	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 syndrome"	0	0	528
Larsen syndrome	autosomal dominant larsen syndrome//bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies//lrs//larsen syndrome, autosomal dominant//larsen syndrome, dominant type//larsen syndrome; lrs//dominant larsen syndrome	FLNB	FLNB	https://raresource.nih.gov/literature/disease/0006860	0006860	150250	503	C0175778			filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Larsen syndrome"	0	0	268
Bardet-Biedl syndrome	bbs//bardet biedl syndrome//biedl-bardet syndrome//lmbb - laurence-moon-bardet-biedl syndrome//laurence moon bardet biedl syndrome//laurence-moon-bardet-biedl syndrome//laurence-moon-biedl syndrome//syndrome, bardet-biedl//syndrome, laurence-moon-bardet-biedl	IFT27;TRIM32;ARL6;SCAPER;SDCCAG8;BBS12;BBS5;BBS4;BBS2;BBS1;NPHP1;MKS1;MKKS;LZTFL1;IFT172;BBS9;CEP290;CEP19;BBIP1;WDPCP;CFAP418;BBS10;IFT74;TTC8;BBS7	IFT27;TRIM32;ARL6;SCAPER;SDCCAG8;BBS12;BBS5;BBS4;BBS2;BBS1;NPHP1;MKS1;MKKS;LZTFL1;IFT172;BBS9;CEP290;CEP19;BBIP1;WDPCP;CFAP418;BBS10;IFT74;TTC8;BBS7	https://raresource.nih.gov/literature/disease/0006866	0006866	615994	110	C0752166	D020788		intraflagellar transport 27;tripartite motif containing 32;ADP ribosylation factor like GTPase 6;S-phase cyclin A associated protein in the ER;SHH signaling and ciliogenesis regulator SDCCAG8;Bardet-Biedl syndrome 12;Bardet-Biedl syndrome 5;Bardet-Biedl syndrome 4;Bardet-Biedl syndrome 2;Bardet-Biedl syndrome 1;nephrocystin 1;MKS transition zone complex subunit 1;MKKS centrosomal shuttling protein;leucine zipper transcription factor like 1;intraflagellar transport 172;Bardet-Biedl syndrome 9;centrosomal protein 290;centrosomal protein 19;BBSome interacting protein 1;WD repeat containing planar cell polarity effector;cilia and flagella associated protein 418;Bardet-Biedl syndrome 10;intraflagellar transport 74;tetratricopeptide repeat domain 8;Bardet-Biedl syndrome 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-Biedl syndrome"	0	0	1628
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	3-hydroxyacyl-coa dehydrogenase long chain deficiency//deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase//lchad deficiency//lchadd//lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//long-chain 3-oh acyl-coa dehydrogenase deficiency//long-chain 3-hydroxy acyl coa dehydrogenase deficiency//long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//trifunctional protein deficiency, type 1//long chain 3-hydroxyacyl-coa dehydrogenase deficiency//long-chain 3-hydroxyacyl-coa dehydrogenase deficiency//trifunctional protein deficiency type 1	HADHA	HADHA	https://raresource.nih.gov/literature/disease/0006867	0006867	609016	5	C1969443			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"	0	0	204
Leber hereditary optic neuropathy	disease, leber's//diseases, leber's//hereditary optic neuroretinopathies//hereditary optic neuroretinopathy//leber hereditary optic neuropathy//lhon//lhon - leber hereditary optic neuropathy//lhon - leber's hereditary optic neuropathy//leber disease//leber hereditary optic atrophy//leber optic atrophy//leber optic atrophy and dystonia//leber optic neuropathy//leber optic atrophy features//leber optic degeneration//leber's disease//leber's diseases//leber's hereditary optic atrophy//leber's hereditary optic neuropathy//leber's optic atrophy//leber's optic neuropathy//lebers disease//lebers optic neuropathy//leber’s disease//neuropathy, leber's optic//neuroretinopathies, hereditary optic//neuroretinopathy, hereditary optic//optic atrophy, hereditary, leber//optic atrophy, leber//optic atrophy, leber type//optic atrophy, leber, hereditary//optic neuropathy, leber's//optic neuroretinopathies, hereditary//optic neuroretinopathy, hereditary	NDUFS2;DNAJC30	NDUFS2;DNAJC30	https://raresource.nih.gov/literature/disease/0006870	0006870	535000	104	C0917796			NADH:ubiquinone oxidoreductase core subunit S2;DnaJ heat shock protein family (Hsp40) member C30	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leber hereditary optic neuropathy"	0	0	2141
Legg-Calvé-Perthes disease	aseptic necrosis of the capital femoral epiphysis//avascular necrosis of the capital femoral epiphysis//calve - perthes' disease//coxa plana//disease, legg-calve-perthes//disease, legg-calvé-perthes//disease, legg-perthes//disease, perthes//juvenile osteochond-hip/pelvis//juvenile osteochondrosis of hip and/or pelvis//lcp//lcpd//legg-perthes disease//legg calve perthes disease//legg calve perthes syndrome//legg calvé perthes disease//legg calvé perthes syndrome//legg perthes disease//legg-calve-perthes disease; lcpd//legg-calve-perthes syndrome//legg-calve-perthes disease//legg-calve-perthes symptom//legg-calvé-perthes syndrome//morbus legg-calve-perthes//osteochondritis deforman//osteochondritis deformans//osteochondritis of the capital femoral epiphysis//osteochondrosis of the capital femoral epiphysis//osteochondrosis of the femoral head//osteonecrosis of the femoral head//perthes disease//perthe's disease//perthes disease - osteochondritis of the femoral head//perthes-like femoral head changes//pseudocoxalgia//syndrome, legg-calve-perthes//syndrome, legg-calvé-perthes//juvenile osteochondrosis of hip and pelvis//osteochondrosis of legg-calve-perthes	COL2A1	COL2A1	https://raresource.nih.gov/literature/disease/0006874	0006874	150600	2380	C0023234			collagen type II alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Legg-Calvé-Perthes disease"	0	0	4770
Leprechaunism	donohue syndrome	INSR	INSR	https://raresource.nih.gov/literature/disease/0006885	0006885	246200	508	C0265344			insulin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leprechaunism"	0	0	2410
Leukocyte adhesion deficiency type I	itgb2 leukocyte adhesion deficiency//lad//lad - leukocyte adhesion deficiency type 1//lad 1//lad-1//lad-1 deficiency//lad-i//lad1//leukocyte adhesion deficiency//leukocyte adhesion deficiency, type i//lfa 1 immunodeficiency//lfa-1 deficiency//lfa-i deficiency//lfa1 immunodeficiency//lymphocyte function-associated antigen 1 immunodeficiency//leukocyte adhesion deficiency - type 1//leukocyte adhesion deficiency type 1//leukocyte adhesion molecule deficiency - type 1//mo-1 deficiency//lad-type i//leukocyte adhesion deficiency 1//leukocyte adhesion deficiency caused by mutation in itgb2//leukocyte adhesion deficiency type i//leukocyte adhesion deficiency, type 1//leukocyte adhesion deficiency, type i; lad	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 type I"	0	0	1641
Lhermitte-Duclos disease	cerebellum dysplastic gangliocytoma//cerebellum dysplastic gangliocytomas//dysplastic gangliocytoma of cerebellum (lhermitte-duclos)//dysplastic gangliocytoma of the cerebellum//ldd//lhermitte duclos disease//dysplastic cerebellar gangliocytoma//dysplastic gangliocytoma of cerebellum	PTEN	PTEN	https://raresource.nih.gov/literature/disease/0006901	0006901	158350	65285	C1266181			phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lhermitte-Duclos disease"	0	0	2854
Li-Fraumeni syndrome	lfl//lfs//lfs1//lfs3//li-fraumeni-like syndrome//li fraumeni syndrome//li-fraumeni familiar cancer susceptibility syndrome//li-fraumeni familial cancer susceptibility syndrome//li-fraumeni syndrome 1//li-fraumeni syndrome 1; lfs1//li-fraumeni syndrome 3//li-fraumeni syndrome 3; lfs3//li-fraumeni syndrome caused by mutation in tp53//li-fraumeni syndrome type 1//li-fraumeni syndrome; lfs//sarcoma family syndrome of li and fraumeni//sbla syndrome//sbla syndrome (sarcoma, breast, leukemia, and adrenal gland)//sarcoma, breast, leukemia, and adrenal gland (sbla) syndrome//tp53 li-fraumeni syndrome//sarcoma family syndrome of 51 and fraumeni//sarcoma, breast, leukaemia and adrenal gland syndrome	CHEK2;CDKN2A;MDM2;TP53	CHEK2;CDKN2A;MDM2;TP53	https://raresource.nih.gov/literature/disease/0006902	0006902	609266	524	C0085390	D016864		checkpoint kinase 2;cyclin dependent kinase inhibitor 2A;MDM2 proto-oncogene;tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Li-Fraumeni syndrome"	0	0	1455
Lissencephaly type 1 due to doublecortin gene mutation	dc syndrome//double cortex syndrome//lissencephaly and agenesis of corpus callosum//lisx//lisx1//lissencephalies, x-linked//lissencephaly x-linked//lissencephaly, x linked//lissencephaly, x-linked//sbh//sclh//subcortical band heterotopia, x-linked//subcortical laminar heterotopia, x-linked//x linked lissencephaly//x-linked lissencephalies//x-linked lissencephaly//x-linked lissencephaly type 1//xlis//lissencephaly type 1 due to doublecortin gene mutation//lissencephaly, x-linked, 1//lissencephaly, x-linked, 1; lisx1//lissencephaly, x-linked, type 1//subcortical laminar heterotopia, x-linked,	DCX	DCX	https://raresource.nih.gov/literature/disease/0006914	0006914	300067	2148	C1848199			doublecortin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lissencephaly type 1 due to doublecortin gene mutation"	0	0	235
Lymphomatoid papulosis	alcl, cutaneous//anaplastic large cell lymphoma, t/null cell, primary cutaneous type//c-alcl//cutaneous t-cell lymphoma, large cell, cd30-positive//lyp//lymphoma, primary cutaneous anaplastic large cell//lymphomatoid papuloses//papuloses, lymphomatoid//papulosis, lymphomatoid//primary c-alcl//primary cutaneous anaplastic large cell lymphoma//primary cutaneous cd30 positive large t cell lymphoma//primary cutaneous cd30-positive large t-cell lymphoma//primary cutaneous cd30 antigen positive large t-cell lymphoma//primary cutaneous cd30+ large t-cell lymphoma//primary cutaneous ki-1+ t-cell lymphoproliferative disease//primary cutaneous anaplastic large t-cell lymphoma, cd30-positive//regressive atypical histiocytosis//anaplastic large-cell lymphoma, primary cutaneous type//lymphomatoid papulosis//pcalcl - primary cutaneous anaplastic large cell lymphoma//primary anaplastic large cell lymphoma of skin//primary anaplastic large cell lymphoma of the skin//primary cutaneous cd30 positive anaplastic large cell lymphoma//primary cutaneous cd30+ alcl//primary cutaneous cd30+ t-cell lymphoproliferative disease//primary cutaneous cd30+ anaplastic large cell lymphoma	NPM1;TYK2	NPM1;TYK2	https://raresource.nih.gov/literature/disease/0006944	0006944		98842	C0206182	D017731		nucleophosmin 1;tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lymphomatoid papulosis"	0	0	1081
Megalencephaly-capillary malformation-polymicrogyria syndrome	m-cm//m-cm (macrocephaly-capillary malformation)//m-cmtc//macrocephaly-capillary malformation//macrocephaly-cutis marmorata telangiectatica congenita//mcap//mcap - megalencephaly capillary malformation//mcm//mcmtc//megalencephaly-capillary malformation syndrome//megalencephaly-capillary malformation-polymicrogyria syndrome, somatic//megalencephaly-cutis marmorata telangiectatica congenita//macrocephaly - cutis marmorata telangiectatica congenita//macrocephaly cutis marmorata telangiectatica congenita//macrocephaly-capillary malformation syndrome//macrocephaly-capillary malformation syndrome (m-cm, mcap)//macrocephaly-cutis marmorata telangiectatica congenita syndrome//megalencephaly - cutis marmorata telangiectatica congenita//megalencephaly capillary malformation//megalencephaly cutis marmorata telangiectatica congenita//megalencephaly, capillary malformation, polymicrogyria syndrome//megalencephaly-capillary malformation (mcap) syndrome//megalencephaly-capillary malformation syndrome (mcap syndrome)//megalencephaly-cutis marmorata telangiectatica congenita syndrome//megalocephaly cutis marmorata telangiectatica congenita//megalencephaly-capillary malformation-polymicrogyria syndrome//megalencephaly-capillary malformation-polymicrogyria syndrome; mcap	PIK3CA	PIK3CA	https://raresource.nih.gov/literature/disease/0006950	0006950	602501	60040	C1865285			phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megalencephaly-capillary malformation-polymicrogyria syndrome"	0	0	371
Macular corneal dystrophy	corneal dystrophy, macular type//corneal dystrophy groenouw type ii//fehr corneal dystrophy//groenouw type ii corneal dystrophy//groenouw type 2 corneal dystrophy//macular corneal dystrophy, type i//macular corneal dystrophy, type ii//macular dystrophy, corneal, 1//mcd//mcdc1//mcdc1, formerly//macular corneal dystrophy type 1//macular dystrophy, corneal type 1//macular corneal dystrophy//macular corneal dystrophy, type 1//macular corneal dystrophy, type 2//macular dystrophy, corneal//macular dystrophy, corneal; mcd	CHST6	CHST6	https://raresource.nih.gov/literature/disease/0006953	0006953	217800	98969	C1636149			carbohydrate sulfotransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macular corneal dystrophy"	0	0	2738
Multiple symmetric lipomatosis	benign symmetrical lipomatoses//benign symmetrical lipomatosis//central non-encapsulated lipomatosis//cephalothoracic lipodystrophies//cephalothoracic lipodystrophy//disease, madelung//disease, madelung's//familial benign cervical lipomatosis//familial symmetric lipomatosis//lipodystrophy, cephalothoracic//lipomatosis, familial benign cervical//lms - multiple symmetrical lipomatosis//launois bensaude syndrome//launois bensaude lipomatosis//launois-bensaude adenolipomatosis//launois-bensaude lipomatosis//launois-bensaude syndrome//launois-bensaude's lipomatosis//lipodystrophies, cephalothoracic//lipomatoses, multiple symmetric//lipomatosis//lipomatosis familial benign cervical//lipomatosis, benign symmetrical//lipomatosis, multiple symmetrical//msl//madelung neck//madelung disease//madelung's disease//madelung's neck//madelungs disease//madelungs neck//multiple symmetric lipomatoses//multiple symmetrical lipomatoses//symmetric lipomatoses, multiple//symmetric lipomatosis, multiple//symmetrical lipomatoses, multiple//symmetrical lipomatosis, benign//symmetrical lipomatosis, multiple//cervical symmetrical lipomatosis//lipomatosis, multiple symmetric//lipomatosis, multiple symmetric; msl//multiple symmetric lipomatosis//multiple symmetrical lipomatosis	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0006957	0006957	151800	2398	C2931642			mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple symmetric lipomatosis"	0	0	688
Maffucci syndrome	chondrodysplasia with hemangioma//chondroplasia angiomatosis//dyschondrodysplasia with hemangiomas//dyschondroplasia and cavernous hemangioma//enchondromatosis type ii (former)//enchondromatosis with multiple cavernous hemangiomas//enchondromatosis with hemangiomata//hemangiomatosis chondrodystrophica//kast syndrome//maffucci syndrome//multiple enchondromatosis, maffucci type//maffucci's anomalad//maffucci's syndrome//multiple angiomas and endochondromas//syndrome, maffucci//hemangiomata with dyschondroplasia	IDH2;IDH1	IDH2;IDH1	https://raresource.nih.gov/literature/disease/0006958	0006958	614569	163634	C0024454			isocitrate dehydrogenase (NADP(+)) 2;isocitrate dehydrogenase (NADP(+)) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Maffucci syndrome"	0	0	395
Malignant hyperthermia of anesthesia	hyperthermia of anesthesia	RYR1;CACNA1S	RYR1;CACNA1S	https://raresource.nih.gov/literature/disease/0006964	0006964	601887	423	C0024591	D008305		ryanodine receptor 1;calcium voltage-gated channel subunit alpha1 S	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malignant hyperthermia of anesthesia"	0	0	3
Mantle cell lymphoma	centrocytic small-cell lymphoma//centrocytic small-cell lymphomas//centrocytic lymphoma//diffuse lymphocytic lymphoma, poorly differentiated//diffuse lymphocytic lymphoma, poorly-differentiated//lcm//lymphocytic lymphoma, diffuse, poorly differentiated//lymphocytic lymphoma, diffuse, poorly-differentiated//lymphoma, centrocytic small cell//lymphoma, centrocytic small-cell//lymphoma, lymphocytic, diffuse, intermediate differentiated//lymphoma, lymphocytic, diffuse, poorly-differentiated//lymphoma, lymphocytic, intermediate//lymphoma, mantle cell//lymphoma, mantle-zone//lymphoma, small-cell, centrocytic//lymphomas, centrocytic small-cell//lymphomas, mantle-cell//lymphomas, mantle-zone//mcl//malignant lymphomatous polyposis//mantle cell lymphoma//mantle zone lymphoma//mantle-cell lymphoma//mantle-cell lymphomas//mantle-zone lymphoma//mantle-zone lymphomas//small-cell lymphoma, centrocytic//small-cell lymphomas, centrocytic//classical mantle cell lymphoma	IGH;ATM;CCND1	IGH;ATM;CCND1	https://raresource.nih.gov/literature/disease/0006969	0006969		52416	C0555202	D020522		immunoglobulin heavy locus;ATM serine/threonine kinase;cyclin D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mantle cell lymphoma"	0	0	6786
Marden-Walker syndrome	blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly//connective tissue disorder, marden-walker type//connective tissue disorder marden walker type//generalized connective tissue syndrome//marden-walker syndrome; mwks//mwks//mws//marden walker syndrome	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"	0	0	333
Marfan syndrome type 1	contractural arachnodactyly//fbn1-related thoracic aortic aneurysms and aortic dissections//marfan syndrome, type i//mfs//mfs1//marfan like connective tissue disorder//marfan syndrome type 1//marfan syndrome type 2//marfan syndrome, type ii//marfan syndrome//marfan syndrome, classic//marfan syndrome, type 1//marfan syndrome; mfs//marfan's syndrome//marfan's disease//marfans syndrome	FBN1	FBN1	https://raresource.nih.gov/literature/disease/0006975	0006975	154700	284963				fibrillin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marfan syndrome type 1"	0	0	7860
Marshall syndrome	deafness, myopia, cataract, saddle nose-marshall type//mrshs//marshall syndrome; mrshs//marshall's syndrome	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"	0	0	69
Marshall-Smith syndrome	accelerated skeletal maturation - peculiar facies - failure to thrive//accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome//accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome//mrshss//marshall-smith 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"	0	0	73
MASA syndrome	adducted thumb with mental retardation//clasped thumb and mental retardation//crash syndrome//clasped thumb and intellectual disability//gareis-mason syndrome//genetic diseases, x-linkeds//hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome//intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome//intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome//l1 syndrome//masa (mental retardation, 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)//mental retardation, aphasia, shuffling gait, and adducted thumbs//masa syndrome//mental retardation aphasia shuffling gait adducted thumbs (masa)//mental retardation, aphasia, shuffling gait, adducted thumbs (masa)//mental retardation, adducted thumbs, shuffling gait, aphasia syndrome//spastic paraplegia 1, x-linked//spg1//spastic paraplegia 1//spastic paraplegia, type 1//thumb, congenital clasped, with mental retardation//thumb congenital clasped with mental retardation//x-linked complicated hereditary spastic paraplegia type 1//x-linked corpus callosum agenesis//x-linked hydrocephalus with stenosis of the aqueduct of sylvius (hsas)//x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis//x-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome//x-linked spastic paraplegia 1//adducted thumb with intellectual disability//hereditary spastic paraplegia 1//intellectual disability aphasia shuffling gait adducted thumbs (masa)//intellectual disability, aphasia, shuffling gait, and adducted thumbs//spastic paraplegia, x-linked//thumb congenital clasped with intellectual disability//thumb, congenital clasped, with intellectual disability	L1CAM	L1CAM	https://raresource.nih.gov/literature/disease/0006986	0006986	303350	2466	C0795953	C536029		L1 cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MASA syndrome"	0	0	106
McCune-Albright syndrome	albright syndrome//albright's disease//albright's disease of bone//albright's syndrome//albright's syndrome with precocious puberty//albright-mccune-sternberg syndrome//albright-sternberg syndrome//dysplasia, polyostotic fibrous//dysplasias, polyostotic fibrous//fibrous dysplasia with pigmentary skin changes and precocious puberty//fibrous dysplasia, polyostotic//fibrous dysplasia/mccune-albright syndrome//fibrous dysplasias, polyostotic//gonadotropin-independent female-limited sexual precocity//mas//mccune albright syndrome//mccune-albright syndrome//mccune-albright syndrome, somatic, mosaic//osteitis fibrosa disseminata//pfd//pfd - polyostotic fibrous dysplasia//pofd//pofd - polyostotic fibrous dysplasia//polyostotic fibrous dysplasia//polyostotic fibrous dysplasias//syndrome, albright//syndrome, albright's//syndrome, mccune-albright//fibrous dysplasia of bone//polyostotic fibrous dysplasia of bone	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0006995	0006995	174800	562	C0242292	D005359		GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=McCune-Albright syndrome"	0	0	3890
Cartilage-hair hypoplasia	autosomal recessive metaphyseal chondrodysplasia//chh//cartilage hair syndrome//cartilage hair hypoplasia like syndrome//cartilage-hair hypoplasia//cartilage-hair hypoplasia syndrome//metaphyseal chondrodysplasia, mckusick type//mckusick metaphyseal chondrodysplasia syndrome//mckusick type//mckusick type metaphyseal chondrodysplasia//metaphyseal chondrodysplasia, recessive type//metaphyseal chondrodysplasia//metaphyseal chondrodysplasia mckusick type//cartilage hair hypoplasia//cartilage-hair hypoplasia; chh	RMRP	RMRP	https://raresource.nih.gov/literature/disease/0006996	0006996	250460	175	C0220748	C535916		RNA component of mitochondrial RNA processing endoribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cartilage-hair hypoplasia"	0	0	614
MUC1-related autosomal dominant tubulointerstitial kidney disease	admckd1//adtkd due to muc1 mutations//adtkd-muc1//adtkd2//autosomal dominant tubulointerstitial kidney disease due to muc1 mutations//autosomal dominant tubulointerstitial kidney disease, muc1-associated//mckd//mckd1//mckd1 medullary cystic kidney disease 1//medullary cystic kidney disease 1//medullary cystic kidney disease, autosomal dominant//muc1-related autosomal dominant medullary cystic kidney disease//muc1-related medullary cystic kidney disease//muci-related adtkd//medullary cystic kidney disease 1 (former)//medullary cystic kidney disease type 1//mucin 1 related autosomal dominant tubulointerstitial kidney disease//mucin-1 kidney disease//polycystic kidneys, medullary type//tubulointerstitial kidney disease, autosomal dominant, 2//autosomal dominant medullary cystic kidney disease without hyperuricemia//autosomal dominant tubulointerstitial kidney disease due to mutations in muc1//medullary cystic kidney disease 1; mckd1	MUC1	MUC1	https://raresource.nih.gov/literature/disease/0007002	0007002	174000	88949				mucin 1, cell surface associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MUC1-related autosomal dominant tubulointerstitial kidney disease"	0	0	64
Imerslund-Gräsbeck syndrome	defect of enterocyte intrinsic factor receptor//enterocyte cobalamin malabsorption//enterocyte intrinsic factor receptor, defect of//familial megaloblastic anemia//gräsbeck-imerslund disease//igs//igs1//igs2//imerslund-grasbeck syndrome//megaloblastic anemia, 1//megaloblastic anemia, finnish type//megaloblastic anemia, norwegian type//mga-1//mga1//megaloblastic anemia 1//pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria//selective cobalamin malabsorption with proteinuria//juvenile megaloblastic anemia//megaloblastic anemia type 1//megaloblastic anemia, 1; mga1	AMN;CUBN	AMN;CUBN	https://raresource.nih.gov/literature/disease/0007006	0007006	261100	35858	C1306856			amnion associated transmembrane protein;cubilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Imerslund-Gräsbeck syndrome"	0	0	140
Melnick-Needles syndrome	melnick-needles osteodysplasty//melnick-needles syndrome; mns//mns//melnick needles osteodysplasty//melnick needles syndrome//osteodysplasty of melnick and needles//osteodysplasty//osteodysplasty, melnick-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"	0	0	264
Meningioma	angioblastic meningioma//angioblastic meningiomas//angiomatous meningioma//angiomatous meningiomas//benign meningioma//benign meningiomas//cerebral convexity meningioma//cerebral convexity meningiomas//clear cell meningioma//clear cell meningiomas//convexity meningioma, cerebral//convexity meningiomas, cerebral//fibrous meningioma//fibrous meningiomas//groove meningiomas, olfactory//hemangioblastic meningioma//hemangioblastic meningiomas//hemangiopericytic meningioma//hemangiopericytic meningiomas//intracranial meningioma//intracranial meningiomas//intraorbital meningioma//intraorbital meningiomas//intraventricular meningioma//intraventricular meningiomas//malignant meningioma//malignant meningiomas//meningioma, angioblastic//meningioma, angiomatous//meningioma, benign//meningioma, cerebral convexity//meningioma, clear cell//meningioma, fibrous//meningioma, hemangioblastic//meningioma, hemangiopericytic//meningioma, intracranial//meningioma, intraorbital//meningioma, intraventricular//meningioma, malignant//meningioma, meningotheliomatous//meningioma, microcystic//meningioma, multiple//meningioma, olfactory groove//meningioma, papillary//meningioma, parasagittal//meningioma, posterior fossa//meningioma, psammomatous//meningioma, secretory//meningioma, sphenoid wing//meningioma, spinal//meningioma, transitional//meningioma, xanthomatous//meningioma, somatic//meningiomas//meningiomas, angioblastic//meningiomas, angiomatous//meningiomas, benign//meningiomas, cerebral convexity//meningiomas, clear cell//meningiomas, fibrous//meningiomas, hemangioblastic//meningiomas, hemangiopericytic//meningiomas, intracranial//meningiomas, intraorbital//meningiomas, intraventricular//meningiomas, malignant//meningiomas, meningotheliomatous//meningiomas, microcystic//meningiomas, multiple//meningiomas, olfactory groove//meningiomas, papillary//meningiomas, parasagittal//meningiomas, posterior fossa//meningiomas, psammomatous//meningiomas, secretory//meningiomas, sphenoid wing//meningiomas, spinal//meningiomas, transitional//meningiomas, xanthomatous//meningiomatoses//meningiomatosis//meningotheliomatous meningioma//meningotheliomatous meningiomas//microcystic meningioma//microcystic meningiomas//multiple meningioma//multiple meningiomas//noncancerous growth of membranes covering brain//olfactory groove meningioma//olfactory groove meningiomas//papillary meningioma//papillary meningiomas//parasagittal meningioma//parasagittal meningiomas//posterior fossa meningioma//posterior fossa meningiomas//psammomatous meningioma//psammomatous meningiomas//secretory meningioma//secretory meningiomas//sphenoid wing meningioma//sphenoid wing meningiomas//spinal meningioma//spinal meningiomas//transitional meningioma//transitional meningiomas//wing meningioma, sphenoid//wing meningiomas, sphenoid//xanthomatous meningioma//xanthomatous meningiomas//meningeal neoplasm//meningioma//meningioma (disease)//meningioma nos//meningioma nos (morphologic abnormality)//meningioma, nos//meningioma, benign, no icd-o subtype (morphologic abnormality)//meningiomas (morphologic abnormality)//meningothelial cell tumor//neoplasm of the meninges//primary meningeal tumor//supratentorial meningioma	PDGFB;AKT1;SMARCB1;SMARCE1;SMO;TERT;SUFU;BAP1;PIK3CA;NF2;TRAF7	PDGFB;AKT1;SMARCB1;SMARCE1;SMO;TERT;SUFU;BAP1;PIK3CA;NF2;TRAF7	https://raresource.nih.gov/literature/disease/0007015	0007015	606190	2495	C0025286	D008579		platelet derived growth factor subunit B;AKT serine/threonine kinase 1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1;smoothened, frizzled class receptor;telomerase reverse transcriptase;SUFU negative regulator of hedgehog signaling;BRCA1 associated protein 1;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha;NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor;TNF receptor associated factor 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meningioma"	0	0	19424
Pleural mesothelioma	advanced malignant mesothelioma//cancer, mesothelioma//diffuse malignant mesothelioma//mesom//malignant mesotheliomas//malignant mesothelioma//malignant mesothelioma (disease)//mesothelioma (malignant, clinical disorder)//mesothelioma, malignant//mesothelioma, somatic//mesotheliomas//mesotheliomas, malignant//asbestos-related malignant mesothelioma//malignant mesothelial neoplasm//malignant mesothelial tumor//malignant neoplasm of mesothelium//malignant neoplasm of the mesothelium//malignant tumor of mesothelium//malignant tumor of the mesothelium//mesothelioma//mesothelioma, malignant; mesom	BAP1	BAP1	https://raresource.nih.gov/literature/disease/0007026	0007026	156240	50251	C0025500	D008654		BRCA1 associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pleural mesothelioma"	0	0	537
Metaphyseal chondrodysplasia, Schmid type	japanese type spondylometaphyseal dysplasia//mcds//metaphyseal chondrodysplasia, schmid type//metaphyseal chondrodysplasia schmid type//metaphyseal dysplasia, schmid type//spondylometaphyseal dysplasia, japanese type//schmid metaphyseal chondrodysplasia//schmid type metaphyseal dysplasia//metaphyseal chondrodysplasia, schmid type; mcds	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"	0	0	224
Multiple osteochondromas	bessel-hagen disease//multiple cartilaginous exostoses	EXT1;EXT2	EXT1;EXT2	https://raresource.nih.gov/literature/disease/0007035	0007035	133701	321	C0206641			exostosin glycosyltransferase 1;exostosin glycosyltransferase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple osteochondromas"	0	0	162
Microvillus inclusion disease	congenital familial protracted diarrhea with enterocyte brush-border abnormalities//congenital familial protracted diarrhea//congenital microvillous atrophy//congenital microvillus atrophy//davidson disease//diar2//davidson's disease//diarrhea with microvillus atrophy 2//familial enteropathy, microvillus//intractable diarrhea of infancy//microvillus atrophy, congenital//microvillus inclusion disease//microvillus inclusion disease 1//mvd//mvid//myo5b secretory diarrhea//microvillous inclusion disease//diarrhea 2 with microvillus atrophy//diarrhea 2, with microvillus atrophy//diarrhea 2, with microvillus atrophy; diar2//secretory diarrhea caused by mutation in myo5b	MYO5B;STX3	MYO5B;STX3	https://raresource.nih.gov/literature/disease/0007039	0007039	251850	2290	C0341306			myosin VB;syntaxin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microvillus inclusion disease"	0	0	1091
Moyamoya disease	cerebrovascular moyamoya disease//classic moyamoya disease//disease, classic moyamoya//disease, moya-moya//disease, primary moyamoya//idiopathic moyamoya disease//moyamoya disease//mymy//mymy1//moya moya disease//moya-moya disease//moyamoya//moyamoya disease, classic//moyamoya disease, primary//moyamoya disease, secondary//moyamoya diseases, primary//moyamoya syndrome//moyamoya disease 1//moyamoya disease 1; mymy1//primary moyamoya disease//primary moyamoya diseases//progressive intracranial occlusive arteropathy (moyamoya)//spontaneous occlusion of the circle of willis//secondary moyamoya disease//progressive intracranial arterial occlusion	ACTA2;RNF213;DIAPH1	ACTA2;RNF213;DIAPH1	https://raresource.nih.gov/literature/disease/0007064	0007064	608796	2573	C0026654	D009072		actin alpha 2, smooth muscle;ring finger protein 213;diaphanous related formin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moyamoya disease"	0	0	5094
Sanfilippo syndrome type A	heparan sulfamidase deficiency//mps3a//mpsiiia//mucopolysaccharidosis type 3a//mucopolysaccharidosis type iiia	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[]=Sanfilippo syndrome type A"	0	0	150
Sanfilippo syndrome type B	deficiencies, n-acetyl-alpha-d-glucosaminidase//deficiencies, naglu//deficiency, n-acetyl-alpha-d-glucosaminidase//deficiency, naglu//mps 3 b//mps 3b//mps iii b//mps iii-b - mucopolysaccharidosis iii-b//mps iiib//mps3b//mpsiiib//mpsiiib - mucopolysaccharidosis type iiib//mucopolysaccharidosis, type iiib//mucopoly-saccharidosis type 3b//mucopolysaccharidosis iii-b//mucopolysaccharidosis type 3 b//mucopolysaccharidosis type iiibs//mucopolysaccharidosis type 3b//mucopolysaccharidosis type iiib//mucopolysaccharidosis type iiib (sanfilippo b)//mucopolysaccharidosis, mps-iii-b//n acetyl alpha d glucosaminidase deficiency//n-acetyl-alpha-d-glucosaminidase deficiency//n-acetyl-alpha-d-glucosaminidase deficiencies//n-acetyl-alpha-glucosaminidase deficiency//naglu deficiency//naglu deficiencies//sanfilippo syndrome b//sanfilippo b//sanfilippo syndrome, type b//alpha-n-acetylglucosaminidase deficiency//mucopolysaccharidosis, type 3b//mucopolysaccharidosis, type iiib; mps3b	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[]=Sanfilippo syndrome type B"	0	0	214
Sanfilippo syndrome type C	acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency//acetyl coa:alpha glucosaminide n acetyltransferase deficiency//acetyl-coa alpha-glucosaminide acetyltransferase deficiency//acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency//acetyl-coa: heparan-alpha-d-glucosaminide n-acetyltransferase deficiency//acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiencies//deficiencies, acetyl-coa:alpha-glucosaminide n-acetyltransferase//deficiency, acetyl-coa:alpha-glucosaminide n-acetyltransferase//hgsnat deficiency//heparan-alpha-glucosaminide n-acetyltransferase deficiency//heparan-alpha-glucosaminide acetyltransferase deficiency//mps 3 c//mps 3c//mps iii c//mps iii-c - mucopolysaccharidosis iii-c//mps iiic//mps3c//mpsiiic//mpsiiic - mucopolysaccharidosis type iiic//mucopolysaccharidosis, type iiic//mucopoly-saccharidosis type 3c//mucopolysaccharidosis iii-c//mucopolysaccharidosis type 3 c//mucopolysaccharidosis type iiics//mucopolysaccharidosis type 3c//mucopolysaccharidosis type iiic//mucopolysaccharidosis type iiic (sanfilippo c)//mucopolysaccharidosis, mps-iii-c//n-acetyl transferase deficiency//n-acetyltransferase deficiencies, acetyl-coa:alpha-glucosaminide//n-acetyltransferase deficiency, acetyl-coa:alpha-glucosaminide//sanfilippo syndrome c//sanfilippo c//sanfilippo syndrome, type c//mucopolysaccharidosis, type 3c//mucopolysaccharidosis, type iiic; mps3c	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[]=Sanfilippo syndrome type C"	0	0	60
Sanfilippo syndrome type D	deficiencies, n-acetylglucosamine-6-sulfatase//deficiencies, n-acetylglucosamine-6-sulfate sulfatase//deficiency of n-acetylglucosamine-6-sulfatase//deficiency, n-acetylglucosamine-6-sulfatase//deficiency, n-acetylglucosamine-6-sulfate sulfatase//gns deficiency//glucosamine n-acetyl-6-sulfatase deficiency//mps 3 d//mps 3d//mps iii d//mps iii-d - mucopolysaccharidosis iii-d//mps iiid//mps iiids//mps3d//mpsiiid//mpsiiid - mucopolysaccharidosis type iiid//mucopolysaccharidosis, type iiid//mucopoly-saccharidosis type 3d//mucopolysaccharidosis iii-d//mucopolysaccharidosis type 3 d//mucopolysaccharidosis type iiids//mucopolysaccharidosis type 3d//mucopolysaccharidosis type iiid//mucopolysaccharidosis, mps-iii-d//n acetylglucosamine 6 sulfatase deficiency//n acetylglucosamine 6 sulfate sulfatase deficiency//n-acetylglucosamine-6-sulfatase deficiency//n-acetylglucosamine-6-sulfatase deficiencies//n-acetylglucosamine-6-sulfate sulfatase deficiencies//n-acetylglucosamine-6-sulfate sulfatase deficiency//sanfilippo syndrome d//sanfilippo d//sanfilippo syndrome, type d//sulfatase deficiencies, n-acetylglucosamine-6-sulfate//sulfatase deficiency, n-acetylglucosamine-6-sulfate//mucopolysaccharidosis, type 3d//mucopolysaccharidosis, type iiid; mps3d	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[]=Sanfilippo syndrome type D"	0	0	39
Mucopolysaccharidosis type 7	beta-glucuronidase deficiency//deficiencies, gusb//deficiencies, beta-glucuronidase//deficiency, gusb//deficiency, beta-glucuronidase//disease, sly//gusb deficiency//gusb deficiencies//gus deficiency//mps 7//mps vii//mps vii - sly syndrome//mps vii - mucopolysaccharidosis vii//mps7//mpsvii//mucopolysaccharidosis 7//mucopolysaccharidosis type vii//mucopolysaccharidosis type viis//mucopolysaccharidosis viis//sly syndrome//sly disease//syndrome, sly//type vii, mucopolysaccharidosis//type viis, mucopolysaccharidosis//viis, mucopolysaccharidosis//beta glucuronidase deficiency//beta-glucuronidase deficiencies//deficiency of beta-glucuronidase//mucopolysaccharidosis vii//mucopolysaccharidosis type 7//mucopolysaccharidosis, mps-vii//mucopolysaccharidosis, type 7//mucopolysaccharidosis, type vii//mucopolysaccharidosis, type vii; mps7	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"	0	0	407
Muenke syndrome	fgfr3-associated coronal synostosis//fgfr3-related craniosynostosis//fibroblast growth factor receptor 3 (fgfr3) related craniosynostosis//fibroblast growth factor receptor 3-related craniosynostosis//glass-chapman-hockley syndrome//mnkes//muenke nonsyndromic coronal craniosynostosis//muenke syndrome//muenke syndrome; mnkes//syndrome of coronal craniosynostosis//craniosynostosis - dysmorphism - brachydactyly//craniosynostosis brachydactyly//craniosynostosis with facial dysmorphism and brachydactyly syndrome//craniosynostosis-dysmorphism-brachydactyly syndrome//glass chapman hockley syndrome	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"	0	0	81
Multiple myeloma	al//al amyloidosis//amyloidosis, systemic//cell myeloma, plasma//cell myelomas, plasma//disease, kahler//familial myeloma//kahler disease//kahler's disease//mm//medullary plasmacytoma//multiple myeloma//multiple myelomas//multiple myeloma (clinical)//multiple myeloma, no icd-o subtype//multiple myeloma, no international classification of diseases for oncology subtype//multiple myeloma, somatic//myeloma - multiple//myeloma multiple//myeloma, multiple//myeloma, plasma cell//myeloma, plasma-cell//myeloma-multiple//myeloma-multiples//myelomas, multiple//myelomas, plasma cell//myelomas, plasma-cell//myelomatoses//myelomatosis//plasma cell myeloma//plasma cell myelomas//plasma cell dyscrasia//plasma-cell myeloma//plasma-cell myelomas//plasmacytic myeloma//plasmocytoma//multiple myeloma/plasma cell myeloma//myeloid neoplasm of plasma cell//myeloma//myeloma, nos//myeloma, plasma cell, malignant//plasma cell myeloid neoplasm	CCND1	CCND1	https://raresource.nih.gov/literature/disease/0007108	0007108	254500	29073	C0026764	D009101		cyclin D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple myeloma"	0	0	69463
Autosomal recessive multiple pterygium syndrome	autosomal recessive non-lethal multiple pterygium syndrome//escobar syndrome//evmps//escobar variant multiple pterygium syndrome//multiple pterygium syndrome//multiple pterygium syndrome, nonlethal type//multiple pterygium syndrome escobar type//multiple pterygium syndrome nonlethal type//pterygium colli syndrome//pterygium syndrome//pterygium universale//autosomal recessive multiple pterygium syndrome//multiple pterygium syndrome, escobar variant//multiple pterygium syndrome, escobar variant; evmps//multiple pterygium syndrome, autosomal recessive	CHRNG;MYH3	CHRNG;MYH3	https://raresource.nih.gov/literature/disease/0007111	0007111	618469	2990				cholinergic receptor nicotinic gamma subunit;myosin heavy chain 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive multiple pterygium syndrome"	0	0	203
Myoclonus-dystonia syndrome	alcohol-responsive dystonia//dyt-sgce//dyt11//dystonia 11//dystonia, alcohol-responsive//dystonia, alcohol responsive//dystonia-11, myoclonic//hereditary essential myoclonus//myoclonic dystonia//myoclonus, hereditary essential//myoclonus-dystonia//sgce myoclonus-dystonia syndrome//dystonia 11, myoclonic//dystonia with myoclonus//myoclonic dystonia 11//myoclonic dystonia type 11//myoclonus-dystonia syndrome//myoclonus-dystonia syndrome caused by mutation in sgce	DRD2;TOR1A;KCTD17;SGCE	DRD2;TOR1A;KCTD17;SGCE	https://raresource.nih.gov/literature/disease/0007139	0007139	616398	36899	C1834570	C536096		dopamine receptor D2;torsin family 1 member A;potassium channel tetramerization domain containing 17;sarcoglycan epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myoclonus-dystonia syndrome"	0	0	376
Inflammatory myofibroblastic tumor	granulomas, plasma cell//imt//inflammatory pseudotumor//inflammatory pseudotumors//inflammatory fibrosarcoma//myofibroblastic tumor//plasma cell granuloma//plasma cell granulomas//pseudotumor, inflammatory//pseudotumors, inflammatory//inflammatory myofibroblastic neoplasm//inflammatory myofibroblastic tumor	CARS1;TPM4;CLTC;ALK;RANBP2;TPM3	CARS1;TPM4;CLTC;ALK;RANBP2;TPM3	https://raresource.nih.gov/literature/disease/0007146	0007146		178342	C0334121			cysteinyl-tRNA synthetase 1;tropomyosin 4;clathrin heavy chain;ALK receptor tyrosine kinase;RAN binding protein 2;tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Inflammatory myofibroblastic tumor"	0	0	3128
Hyaline body myopathy	myosin storage myopathy//hyaline body myopathy	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0007148	0007148	608358	53698				myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyaline body myopathy"	0	0	401
Myxoid/round cell liposarcoma	liposarcoma, myxoid//liposarcoma, round cell//liposarcomas, myxoid//mrcls//myxoid liposarcoma//myxoid liposarcomas//myxoliposarcoma//round cell liposarcoma//round cell liposarcomas//mixed-type liposarcoma//myxoid liposarcoma (morphologic abnormality)//myxoid/round cell liposarcoma//myxoid/round-cell liposarcoma	FUS;DDIT3	FUS;DDIT3	https://raresource.nih.gov/literature/disease/0007157	0007157	613488	99967	C0206634	D018208		FUS RNA binding protein;DNA damage inducible transcript 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myxoid/round cell liposarcoma"	0	0	1147
Hyperammonemia due to N-acetylglutamate synthase deficiency	hyperammonemia due to n-acetylglutamate synthetase deficiency//n-acetylglutamate synthetase deficiency//n-acetylglutamate synthase deficiency//n-acetyl glutamate synthetase deficiency//n-acetylglutamate synthase deficiency; nagsd//nag synthetase deficiency//nags deficiency//nagsd//hyperammonemia due to n-acetylglutamate synthase deficiency	NAGS	NAGS	https://raresource.nih.gov/literature/disease/0007158	0007158	237310	927	C0268543			N-acetylglutamate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperammonemia due to N-acetylglutamate synthase deficiency"	0	0	79
Nail-patella syndrome	arthro-onychodysplasia//disease, fong//fong disease//hereditary onycho-osteodysplasia//hereditary osteo-onychodysplasia//hereditary osteo-onychodysplasias//nps//nps 1//nps1//nail patella syndrome//onychoosteodysplasia//osteo onychodysplasia, hereditary//osteo-onychodysplasia//osteo-onychodysplasia, hereditary//osteo-onychodysplasias, hereditary//osterreicher syndrome//pelvic horn syndrome//syndrome, nail-patella//syndrome, osterreicher//syndrome, pelvic horn//syndrome, turner-kieser//turner-kieser syndrome//turner kieser syndrome//turner-kiser syndrome//hereditary onychoostedysplasia//iliac horn syndrome//nail-patella syndrome//nail-patella syndrome; nps//onycho-patellar syndrome with eye involvement	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"	0	0	977
Nance-Horan syndrome	cataract, x-linked, with hutchinsonian teeth//cataract-dental syndrome//cataract x-linked with hutchinsonian teeth//cataract dental syndrome//mesiodens-cataract syndrome//mesiodens cataract syndrome//nhs//nance-horan syndrome; 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"	0	0	2569
Narcolepsy type 1	cataplexy and narcolepsy//gc)lineau disease//gelineau syndrome//gelineau's syndrome//gelineau's syndromes//gelineaus syndrome//gélineau disease//narcolepsy//narcolepsy (disorder)//narcolepsy cataplexy syndrome//narcolepsy nos//narcolepsy, without cataplexy//narcolepsy-cataplexy syndrome//narcolepsy-cataplexy syndromes//narcolepsy-cataplexy//narcoleptic syndrome//narcoleptic syndromes//paroxysmal sleep//sleep, paroxysmal//syndrome, gelineau//syndrome, gelineau's//syndrome, narcolepsy-cataplexy//syndrome, narcoleptic//syndromes, gelineau's//syndromes, narcolepsy-cataplexy//syndromes, narcoleptic//narcolepsy cataplexy//narcolepsy with cataplexy//syndrome, narcolepsy cataplexy	HCRT;HLA-DQB1;TNFSF4;HLA-DRB1;CTSH;MOG;P2RY11;ZNF365	HCRT;HLA-DQB1;TNFSF4;HLA-DRB1;CTSH;MOG;P2RY11;ZNF365	https://raresource.nih.gov/literature/disease/0007162	0007162	612417	2073	C0027404	D009290		hypocretin neuropeptide precursor;major histocompatibility complex, class II, DQ beta 1;TNF superfamily member 4;major histocompatibility complex, class II, DR beta 1;cathepsin H;myelin oligodendrocyte glycoprotein;purinergic receptor P2Y11;zinc finger protein 365	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Narcolepsy type 1"	0	0	5230
Nasopharyngeal carcinoma	nasopharyngeal carcinoma, susceptibility to, 2//npca2//nasopharyngeal cancer//squamous cell carcinoma of the nasopharynx//nasopharyngeal carcinoma, susceptibility to, 2; npca2//nasopharyngeal carcinoma, susceptibility to, type 2	NFKBIA	NFKBIA	https://raresource.nih.gov/literature/disease/0007163	0007163	607107	150	C0238301	C538339		NFKB inhibitor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nasopharyngeal carcinoma"	0	0	16564
Gorlin syndrome	basal cell nevus syndrome//gorlin-goltz syndrome//nbccs//nevoid basal cell carcinoma syndrome	SUFU;PTCH1;PTCH2	SUFU;PTCH1;PTCH2	https://raresource.nih.gov/literature/disease/0007166	0007166	109400	377	C0812437			SUFU negative regulator of hedgehog signaling;patched 1;patched 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gorlin syndrome"	0	0	1748
Childhood-onset nemaline myopathy	mild nemaline myopathy//childhood-onset nemaline myopathy	MYPN;NEB;KBTBD13;TPM2;ACTA1;KLHL41;TPM3	MYPN;NEB;KBTBD13;TPM2;ACTA1;KLHL41;TPM3	https://raresource.nih.gov/literature/disease/0007171	0007171	609285	171439	C0546125			myopalladin;nebulin;kelch repeat and BTB domain containing 13;tropomyosin 2;actin alpha 1, skeletal muscle;kelch like family member 41;tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset nemaline myopathy"	0	0	199
Nephrogenic diabetes insipidus	adh resistant diabetes insipidus//adh-resistant diabetes insipidus//acquired nephrogenic diabetes insipidus//congenital nephrogenic diabetes insipidus//diabetes insipidus renalis//diabetes insipidus, nephrogenic//diabetes insipidus, nephrogenic, autosomal//diabetes insipidus, nephrogenic, type 1//diabetes insipidus, nephrogenic, type i//diabetes insipidus, nephrogenic, type ii//diabetes insipidus, nephrogenic, x-linked//diabetes insipidus nephrogenic//diabetes insipidus nephrogenic x-linked//diabetes insipidus nephrogenic type 1//ndi - nephrogenic diabetes insipidus//nephrogenic diabetes insipidus//nephrogenic diabetes insipidus, type i//nephrogenic diabetes insipidus, type ii//vasopressin-resistant diabetes insipidus	AVPR2;AQP2	AVPR2;AQP2	https://raresource.nih.gov/literature/disease/0007178	0007178	125800	223	C0162283	D018500		arginine vasopressin receptor 2;aquaporin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrogenic diabetes insipidus"	0	0	1389
Netherton syndrome	bamboo hair syndrome//comel-netherton syndrome//comèl-netherton syndrome//erythroderma, ichthyosiform, with hypotrichosis and hyper-ige//neth//netherton disease//ns//netherton syndrome; neth	SPINK5	SPINK5	https://raresource.nih.gov/literature/disease/0007182	0007182	256500	634	C0265962			serine peptidase inhibitor Kazal type 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Netherton syndrome"	0	0	4148
Neuroblastoma	(neuroblastoma nos) or (sympathicoblastoma)//cancer of early nerve cells//central neuroblastoma//nb//nb - neuroblastoma//neural crest tumor//neural crest-derived tumors//neuroblastoma, nos//neuroblastomas//sympathicoblastoma//[m]neuroblastoma nos//[m]neuroblastoma nos (morphologic abnormality)//neural crest tumor, malignant//neuroblastoma//neuroblastoma (schwannian stroma-poor)//neuroblastoma (morphologic abnormality)//neuroblastoma nos (morphologic abnormality)//neuroblastoma, malignant	TOP2A;LIN28B;PHOX2B;ALK;LMO1;MYCN;HACE1	TOP2A;LIN28B;PHOX2B;ALK;LMO1;MYCN;HACE1	https://raresource.nih.gov/literature/disease/0007185	0007185	613013	635	C0027819	C536408		DNA topoisomerase II alpha;lin-28 homolog B;paired like homeobox 2B;ALK receptor tyrosine kinase;LIM domain only 1;MYCN proto-oncogene, bHLH transcription factor;HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neuroblastoma"	0	0	37005
Neurofibromatosis type 2	nf2	NF2	NF2	https://raresource.nih.gov/literature/disease/0007193	0007193	101000	637	C1136041	D016518		NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurofibromatosis type 2"	0	0	1987
Infantile neurovisceral acid sphingomyelinase deficiency	acid sphingomyelinase deficiency, neurovisceral type//asmd, neurovisceral type//cholesterol lipidoses, neuronal//cholesterol lipidoses, sphingomyelin//cholesterol lipidosis, neuronal//cholesterol lipidosis, sphingomyelin//classical niemann pick disease//classical niemann-pick disease//deficiencies, sphingomyelinase//deficiency, sphingomyelinase//infantile neurovisceral asmd//lipidoses, neuronal cholesterol//lipidoses, sphingomyelin//lipidoses, sphingomyelin cholesterol//lipidosis, neuronal cholesterol//lipidosis, sphingomyelin//lipidosis, sphingomyelin cholesterol//niemann-pick disease, intermediate, protracted neurovisceral//npd-a//neuronal cholesterol lipidoses//neuronal cholesterol lipidosis//niemann pick disease, acute neuronopathic form//niemann pick disease, acute neurovisceral form//niemann pick disease, neuronopathic type//niemann pick disease, type a//niemann pick's disease type a//niemann-pick disease, type a//niemann-pick disease, acute neuronopathic form//niemann-pick disease, acute neurovisceral form//niemann-pick disease, classical//niemann-pick disease, neuronopathic type//niemann-pick disease neuropathic type//niemann-pick disease type a//niemann-pick disease, acute neuropathic form//niemann-pick's disease type a//ophthalmoplegia, supraoptic vertical//ophthalmoplegias, supraoptic vertical//sphingomyelin lipidosis//sphingomyelinase deficiency//sphingomyelin cholesterol lipidoses//sphingomyelin cholesterol lipidosis//sphingomyelin lipidoses//sphingomyelinase deficiencies//sphingomyelinase deficiency disease//sphingomyelinase deficiency diseases//supraoptic vertical ophthalmoplegia//supraoptic vertical ophthalmoplegias//type a niemann pick disease//type a niemann-pick disease//vertical ophthalmoplegia, supraoptic//vertical ophthalmoplegias, supraoptic	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[]=Infantile neurovisceral acid sphingomyelinase deficiency"	0	0	167
Milroy disease	congenital familial lymphedema//congenital hereditary lymphedemas//congenital lymphedema, primary//congenital lymphedemas, primary//congenital hereditary lymphedema//congenital primary lymphedema//early onset lymphedemas//early onset lymphedema//early-onset lymphedema//early-onset lymphedemas//flt4 hereditary lymphedema//hereditary lymphedema//hereditary lymphedema 1s//hereditary lymphedema, congenital//hereditary lymphedemas//hereditary lymphedemas, congenital//hereditary lymphedema 1//hereditary lymphedema type i//lmph1a//lmph1a, formerly//lmphm1//lymphatic malformation 1//lymphedema, hereditary, ia//lymphedema, hereditary, ia, formerly//lymphedema, hereditary, type i, formerly//lymphedema, congenital hereditary//lymphedema, early onset//lymphedema, hereditary//lymphedema, nonne-milroy//lymphedema, primary congenital//lymphedemas, congenital hereditary//lymphedemas, early onset//lymphedemas, early-onset//lymphedemas, hereditary//lymphedemas, primary congenital//meige's disease//milroy disease//milroy lymphedema//milroy's disease//milroy-like disease//milroys disease//nonne milroy disease//nonne milroy lymphedema//nonne milroy meige disease//nonne's syndrome//nonne-milroy disease//nonne-milroy lymphedema//nonne-milroy syndrome//nonne-milroy-meige disease//nonne-milroy-meige syndrome//nonne’s syndrome//pcl//primary congenital lymphedemas//primary lymphedema//primary congenital lymphedema//hereditary lymphedema caused by mutation in flt4//lymphatic malformation//lymphedema, early-onset//lymphedema, hereditary, 1a//lymphedema, hereditary, type 1a	GJC2;FLT4	GJC2;FLT4	https://raresource.nih.gov/literature/disease/0007220	0007220	613480	79452	C1704423			gap junction protein gamma 2;fms related receptor tyrosine kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Milroy disease"	0	0	1861
Norrie disease	atrophia bulborum hereditaria//anderson-warburg syndrome//congenital progressive oculo-acoustico-cerebral degeneration//episkopi blindness//fetal iritis syndrome//nd//ndp//ndp-related retinopathies//norrie disease//norrie disease (nd)//norrie disease; nd//norrie syndrome//norrie's disease//norrie-warburg disease//norrie-warburg syndrome//oligophrenia microphthalmus//pseudoglioma//pseudoglioma congenita//whitnall-norman syndrome	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[]=Norrie disease"	0	0	3147
Lesch-Nyhan syndrome	choreoathetosis self mutilation hyperuricemia syndrome//choreoathetosis self mutilation syndrome//choreoathetosis self-mutilation hyperuricemia syndrome//choreoathetosis self-mutilation syndrome//choreoathetosis self-mutilation syndromes//complete hgprt deficiency disease//complete hgprt deficiency//complete hprt deficiencies//complete hprt deficiency//complete hprt deficiency complete//complete hypoxanthine guanine phosphoribosyltransferase deficiency//complete hypoxanthine-guanine phosphoribosyltransferase deficiency//deficiencies, complete hprt//deficiencies, hgprt//deficiencies, hypoxanthine phosphoribosyltransferase//deficiencies, total hprt//deficiency disease, complete hgprt//deficiency disease, hypoxanthine phosphoribosyl transferase//deficiency disease, hypoxanthine-phosphoribosyl-transferase//deficiency diseases, hypoxanthine-phosphoribosyl-transferase//deficiency of guanine phosphoribosyltransferase//deficiency of hypoxanthine phosphoribosyltransferase//deficiency of imp pyrophosphorylase//deficiency of hypoxanthine-guanine phosphoribosyltransferase//deficiency, complete hprt//deficiency, hgprt//deficiency, hypoxanthine phosphoribosyltransferase//deficiency, total hprt//guanine phosphoribosyltransferase deficiencies//guanine phosphoribosyltransferase deficiency//hg-prt deficiency//hgprt deficiencies//hgprt deficiency//hgprt deficiency disease, complete//hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency//hprt deficiency//hprt deficiency, complete//hprt deficiency, neurologic variant//hprt deficiencies, complete//hprt deficiencies, total//hprt deficiency, total//hprt complete deficiency//hprt deficiency grade iv//hprt1 deficiency//hypoxanthine guanine phosphoribosyltransferase 1 deficiency//hyperuricemia syndrome, juvenile//hyperuricemia syndrome, primary//hyperuricemia syndromes, juvenile//hyperuricemia syndromes, primary//hyperuricemia, x-linked//hyperuricemia, x-linked primary//hyperuricemias, x-linked//hyperuricemias, x-linked primary//hypoxanthine guanine phosphoribosyltransferase deficiency//hypoxanthine phosphoribosyl transferase deficiency disease//hypoxanthine phosphoribosyltransferase deficiencies//hypoxanthine phosphoribosyltransferase deficiency//hypoxanthine guanine phospho-ribosyltransferase 1 deficiency//hypoxanthine guanine phosphoribosyltransferase complete deficiency//hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv//hypoxanthine-phosphoribosyl-transferase deficiency disease//hypoxanthine-phosphoribosyl-transferase deficiency diseases//hypoxanthine-guanine phosphoribosyltransferase deficiency//hypoxanthine-guanine-phosphoribosyltransferase deficiency//juvenile gout, choreoathetosis, mental retardation syndrome//juvenile hyperuricemia syndrome//juvenile hyperuricemia syndromes//lesch-nyhan syndrome, neurologic variant//lns//lesch - nyhan syndrome//lesch nyhan disease//lesch nyhan syndrome//lesch-nyhan disease//lesch-nyhan syndrome//lesch-nyhan syndrome; lns//phosphoribosyltransferase deficiencies, guanine//phosphoribosyltransferase deficiencies, hypoxanthine//phosphoribosyltransferase deficiency, guanine//phosphoribosyltransferase deficiency, hypoxanthine//primary hyperuricemia syndrome//primary hyperuricemia syndromes//primary hyperuricemia, x-linked//primary hyperuricemias, x-linked//self-mutilation syndrome, choreoathetosis//self-mutilation syndromes, choreoathetosis//syndrome, choreoathetosis self-mutilation//syndrome, juvenile hyperuricemia//syndrome, primary hyperuricemia//syndromes, choreoathetosis self-mutilation//syndromes, juvenile hyperuricemia//syndromes, primary hyperuricemia//total hgprt deficiency//total hprt deficiencies//total hprt deficiency//total hypoxanthine guanine phosphoribosyl transferase deficiency//total hypoxanthine-guanine phosphoribosyl transferase deficiency//x linked hyperuricemia//x linked primary hyperuricemia//x-linked hyperuricemia//x-linked hyperuricemias//x-linked primary hyperuricemia//x-linked primary hyperuricemias//x-linked hyperuricemia (disorder) [ambiguous]//grade iv//hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [lesch - nyhan syndrome])	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"	0	0	1270
Oculodentodigital dysplasia	curtius' syndrome i//ectodermal dysplasia-ocular malformation syndrome//meyer-schwickerath syndrome//oculodentoosseous dysplasia//odd syndrome//oddd//oddd syndrome//odod//oculo-dento-digital dysplasia//oculo-dento-osseous dysplasia//oculo-dento-digital syndrome//oculodentodigital syndrome//osseous-oculo-dental dysplasia//oculodentodigital dysplasia//oculodentodigital dysplasia; oddd	GJA1	GJA1	https://raresource.nih.gov/literature/disease/0007239	0007239	164200	2710	C0812437			gap junction protein alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculodentodigital dysplasia"	0	0	226
Oculopharyngeal muscular dystrophy	dystrophies, oculopharyngeal muscular//dystrophy, oculopharyngeal muscular//muscular dystrophy, oculopharyngeal//muscular dystrophies, oculopharyngeal//opmd//oculopharyngeal dystrophy//oculopharyngeal muscular dystrophies//oculopharyngeal muscular dystrophy//progressive muscular dystrophy, oculopharyngeal type//oculopharyngeal muscular dystrophy; opmd	PABPN1	PABPN1	https://raresource.nih.gov/literature/disease/0007245	0007245	164300	270	C0270952	D039141		poly(A) binding protein nuclear 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngeal muscular dystrophy"	0	0	912
Ollier disease	chondrodysplasia with hemangioma//chondroplasia angiomatosis//congenital enchondromatosis//dyschondroplasia//disease, ollier//disease, ollier's//dyschondrodysplasia with hemangiomas//dyschondroplasia and cavernous hemangioma//enchondromatosis, multiple//enchondromatosis, multiple, ollier type//ecchondrosis//enchondroma, multiple//enchondromas, multiple//enchondromatoses//enchondromatosis//enchondromatosis with hemangiomata//enchondromatosis with multiple cavernous hemangiomas//enchondromatosis with haemangiomata//enchondroses, multiple//enchondrosis, multiple//hemangiomata with dyschondroplasia//hemangiomatosis chondrodystrophica//kast syndrome//kast's syndrome//maffucci syndrome//maffucci's syndrome//multiple angiomas and endochondromas//multiple enchondroma//multiple enchondromas//multiple enchondroses//multiple enchondrosis//multiple osteochondromas//multiple cartilaginous enchondroses//multiple enchondromata//multiple enchondromatosis//ollier disease//osteochondromatosis//ollier's disease//olliers disease//osteochondromatoses//syndrome, maffucci	PTH1R;IDH2;IDH1	PTH1R;IDH2;IDH1	https://raresource.nih.gov/literature/disease/0007251	0007251	166000	296	C0014084	D004687		parathyroid hormone 1 receptor;isocitrate dehydrogenase (NADP(+)) 2;isocitrate dehydrogenase (NADP(+)) 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ollier disease"	0	0	1168
Carbamoyl-phosphate synthetase 1 deficiency	carbamoyl phosphate synthetase i deficiency//cps 1 deficiencies//cps 1 deficiency//cps i deficiency//cps i deficiencies//cps1 deficiency//cps1d//carbamoyl phosphate synthase (ammonia) deficiency disease//carbamoyl phosphate synthase 1 deficiency//carbamoyl phosphate synthase 1 deficiency disease//carbamoyl phosphate synthase 1 deficiency disease (ornithine carbamoyl phosphate deficiency)//carbamoyl phosphate synthetase i deficiency disease//carbamoyl phosphate synthetase i deficiency, hyperammonemia due to//carbamoyl phosphate synthetase 1 deficiency//carbamoyl-phosphate synthase 1 deficiency disease//carbamoyl-phosphate synthase 1 deficiency disease (ornithine carbamoyl phosphate deficiency)//carbamoyl-phosphate synthase i deficiency disease//carbamoyl-phosphate synthase i deficiency disease (ornithine carbamoyl phosphate deficiency)//carbamoyl-phosphate synthetase i deficiency disease//carbamoyl-phosphate synthase 1 deficiency//carbamoyl-phosphate synthetase i deficiency//carbamoyl-phosphate synthetase deficiency//carbamoylphosphate synthetase 1 deficiency disease//carbamoylphosphate synthetase 1 deficiency disease -//carbamoylphosphate synthetase i deficiency disease//carbamyl phosphate synthetase (cps) deficiency//carbamyl phosphate synthetase 1 deficiency disease//carbamyl phosphate synthetase deficiency disease//carbamyl phosphate synthetase i deficiency disease//carbamyl-phosphate synthetase 1 deficiency disease//carbamyl-phosphate synthetase i deficiency disease//hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency//carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to//carbamoyl phosphate synthetase deficiency//carbamoyl-phosphate synthase//carbamoyl-phosphate synthetase 1 deficiency//deficiency disease	CPS1	CPS1	https://raresource.nih.gov/literature/disease/0007269	0007269	237300	147	C0751753			carbamoyl-phosphate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Carbamoyl-phosphate synthetase 1 deficiency"	0	0	216
Osteosarcoma	bone cell cancer//osrc//osteosarcoma//osteochondrosarcoma//osteogenic sarcoma//osteogenic sarcomas//osteosarcoma (disease)//osteosarcoma - disorder//osteosarcoma tumor//osteosarcoma tumors//osteosarcoma of bone//osteosarcoma, no icd-o subtype//osteosarcoma, no international classification of diseases for oncology subtype//osteosarcomas//sarcoma, osteogenic//sarcomas, osteogenic//tumor, osteosarcoma//tumors, osteosarcoma//bone osteosarcoma//bone sarcoma//osseous sarcoma//osteoid sarcoma//osteosarcoma, malignant//primary osteosarcoma of bone//sarcoma of bone//sarcoma of osteoid//sarcoma of the bone//skeletal sarcoma	TP53;RB1;CHEK2	TP53;RB1;CHEK2	https://raresource.nih.gov/literature/disease/0007284	0007284	259500	668	C0029463	D012516		tumor protein p53;RB transcriptional corepressor 1;checkpoint kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteosarcoma"	0	0	1828
Pachydermoperiostosis	cio//coa//cranioosteoarthropathy//currarino idiopathic osteoarthropathy//familial idiopathic osteoarthropathy of childhood//hpgd primary hypertrophic osteoarthropathy//idiopathic hypertrophic osteoarthropathy//pachydermoperiostosis, autosomal recessive//pdp//pdp, autosomal recessive//pho, autosomal recessive//phoar1//primary hypertrophic osteoarthropathy//touraine-solente-gole syndrome//touraine solente gole syndrome//hypertrophic osteoarthropathy, primary, autosomal recessive, 1//hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1//hypertrophic osteoarthropathy, primary, autosomal recessive, type 1//pachydermoperiostosis//primary hypertrophic osteoarthropathy caused by mutation in hpgd	SLCO2A1;HPGD	SLCO2A1;HPGD	https://raresource.nih.gov/literature/disease/0007299	0007299	614441	2796				solute carrier organic anion transporter family member 2A1;15-hydroxyprostaglandin dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachydermoperiostosis"	0	0	1602
Pallister-Hall syndrome	a syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the gli3 gene on chromosome 7p14.//cave complex//cave complices//cerebroacrovisceral early lethality complex//complex, cave//complices, cave//hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly//hall pallister syndrome//hall-pallister syndrome//hamartoblastoma syndrome, hypothalamic//hamartoblastoma syndromes, hypothalamic//hypothalamic hamartoblastoma syndrome//hypothalamic hamartoblastoma syndromes//phs//pallister hall syndrome//pallister-hall syndrome; phs//pallister-hall syndrome//syndrome, hall-pallister//syndrome, hypothalamic hamartoblastoma//syndrome, pallister-hall//syndromes, hypothalamic hamartoblastoma//ano-cerebro-digital syndrome	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0007305	0007305	146510	672	C0342418	D054975		GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pallister-Hall syndrome"	0	0	802
Paragangliomas 1	1//carotid body tumors//cbt1//chemodectomas//glomus jugulare tumors//glomus tumors, familial, 1//glomus tumors familial 1//paraganglioma, carotid body//paragangliomas with sensorineural hearing loss//paragangliomas, familial nonchromaffin, 1//paragangliomas, familial, 1//paragangliomata//pgl//pgl 1//pgl1//paragangliomas//paragangliomas familial 1//sdhd paraganglioma//sdhd-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 1)//carotid body//familial//familial nonchromaffin//glomus tumors//paraganglioma//paraganglioma caused by mutation in sdhd//paragangliomas 1//paragangliomas 1; pgl1//paragangliomas type 1	SDHD	SDHD	https://raresource.nih.gov/literature/disease/0007324	0007324			C3494181			succinate dehydrogenase complex subunit D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paragangliomas 1"	0	0	8942
Paramyotonia congenita of Von Eulenburg	eulenburg disease//myotonia congenita intermittens//paralysis periodica paramyotonica//paramyotonia congenita without cold paralysis//pmc//paramyotonia congenita//von eulenburg paramyotonia congenita//paramyotonia congenita of von eulenburg; pmc//paramyotonia congenita of von eulenburg	SCN4A	SCN4A	https://raresource.nih.gov/literature/disease/0007325	0007325	168300	684	C1868617	C538616		sodium voltage-gated channel alpha subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paramyotonia congenita of Von Eulenburg"	0	0	664
Parathyroid carcinoma	prtc//parathyroid cancer//parathyroid gland neoplasm//adenocarcinoma of parathyroid//adenocarcinoma of parathyroid gland//adenocarcinoma of the parathyroid//adenocarcinoma of the parathyroid gland//cancer of parathyroid gland//cancer of the parathyroid gland//carcinoma of parathyroid gland//carcinoma of parathyroid//carcinoma of the parathyroid//carcinoma of the parathyroid gland//malignant neoplasm of parathyroid gland//malignant neoplasm of the parathyroid//malignant tumor of parathyroid gland//neoplasm of parathyroid gland//parathyroid adenocarcinoma//parathyroid cancer, nos//parathyroid carcinoma//parathyroid gland adenocarcinoma//parathyroid gland cancer//parathyroid gland carcinoma//parathyroid neoplasm	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"	0	0	1593
Paroxysmal nocturnal hemoglobinuria	cold paroxysmal hemoglobinuria//hemoglobinuria, cold paroxysmal//hemoglobinuria, nocturnal paroxysmal//hemoglobinuria, paroxysmal//hemoglobinuria, paroxysmal cold//hemoglobinuria, paroxysmal nocturnal//marchiafava micheli syndrome//marchiafava-micheli syndrome//marchiafava-micheli disease//nocturnal paroxysmal hemoglobinuria//piga paroxysmal nocturnal hemoglobinuria//pnh//pnh - paroxysmal nocturnal hemoglobinuria//pnh1//paroxysmal cold hemoglobinuria//paroxysmal hemoglobinuria//paroxysmal hemoglobinuria, cold//paroxysmal hemoglobinuria, nocturnal//paroxysmal nocturnal hemoglobinuria//paroxysmal nocturnal haemoglobinuria//paroxysmal nocturnal hemoglobinuria (pnh)//syndrome, marchiafava-micheli//paroxysmal nocturnal hemoglobinuria 1//paroxysmal nocturnal hemoglobinuria 1; pnh1//paroxysmal nocturnal hemoglobinuria caused by mutation in piga//paroxysmal nocturnal hemoglobinuria type 1	PIGA	PIGA	https://raresource.nih.gov/literature/disease/0007337	0007337	615399	447	C0024790	D006457		phosphatidylinositol glycan anchor biosynthesis class A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal nocturnal hemoglobinuria"	0	0	1825
Patent ductus arteriosus 1	pda//pda1//patency of the ductus arteriosus//patent ductus arteriosus//patent ductus arteriosus familial//patent ductus botalli//patent ductus arteriosus familial (type)//ductus arteriosus, patent	PDA1	PDA1	https://raresource.nih.gov/literature/disease/0007342	0007342			C4282128			Patent ductus arteriosus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Patent ductus arteriosus 1"	0	0	10607
Periventricular nodular heterotopia 1	bpnh//bilateral periventricular nodular heterotopia//heterotopia, familial nodular//heterotopia, periventricular nodular, with frontometaphyseal dysplasia//heterotopia, periventricular, ehlers-danlos variant//heterotopia, periventricular, x-linked dominant//heterotopia//heterotopia familial nodular//heterotopia periventricular x-linked dominant//nhbp//nodular heterotopia, bilateral periventricular//nodular heterotopia bilateral periventricular//periventricular nodular heterotopia 4, formerly//pvnh1//pvnh4, formerly//x-linked periventricular heterotopia//bilateral periventricular//ehlers-danlos variant//familial nodular//formerly//nodular heterotopia//periventricular//periventricular nodular heterotopia 1//periventricular nodular heterotopia 1; pvnh1//periventricular nodular heterotopia 4//x-linked dominant	FLNA	FLNA	https://raresource.nih.gov/literature/disease/0007371	0007371			C1848213			filamin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia 1"	0	0	500
Peters anomaly	asgd5//peters anomaly (disease)//peters anomaly with cataract//peters anomaly-cataract syndrome//peters congenital glaucoma//anterior segment dysgenesis 5//anterior segment dysgenesis 5; asgd5	CYP1B1;FOXC1;FOXE3;PITX2;PAX6	CYP1B1;FOXC1;FOXE3;PITX2;PAX6	https://raresource.nih.gov/literature/disease/0007377	0007377	612968	708		C537884		cytochrome P450 family 1 subfamily B member 1;forkhead box C1;forkhead box E3;paired like homeodomain 2;paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peters anomaly"	0	0	366
Peutz-Jeghers syndrome	colonic hamartomatous polyp//hamartomatous intestinal polyposes//hamartomatous intestinal polyposis//intestinal polyposes, hamartomatous//intestinal polyposis, hamartomatous//jeghers-peutz syndrome//lentiginoses, perioral//lentiginosis, perioral//pjs//pjs - peutz-jeghers syndrome//polyposis, hamartomatous intestinal//polyps-and-spots syndrome//perioral lentiginoses//perioral lentiginosis//periorificial lentiginosis syndrome//periorificial lentiginosis syndromes//peutz jegher's syndrome//peutz jeghers polyposis//peutz jeghers syndrome//peutz jeghers colon polyp//peutz jeghers polyp//peutz's syndrome//peutz-jegher syndrome//peutz-jegher's syndrome//peutz-jeghers polyposis//peutz-jeghers polyp of small intestine//peutz-jeghers small bowel hamartoma//peutz-jeghers syndrome; pjs//polyposes, hamartomatous intestinal//polyposis, peutz-jeghers//polyps and spots syndrome//polyps-and-spots syndromes//syndrome, periorificial lentiginosis//syndrome, peutz-jegher's//syndrome, peutz-jeghers//syndrome, polyps-and-spots//syndromes, periorificial lentiginosis//syndromes, polyps-and-spots//gastric peutz-jeghers polyp	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"	0	0	2115
Liddle syndrome	liddle syndrome//liddle syndrome 1//lidls//lidls1//lidls2//lidls3//liddle syndrome 1; lidls1//liddle syndrome 2//liddle syndrome 2; lidls2//liddle syndrome 3; lidls3//liddle syndrome caused by mutation in scnn1b//liddle syndrome caused by mutation in scnn1g//liddle syndrome; lidls//liddle's syndrome//pseudoaldosteronism//pseudohyperaldosteronism//pseudohyperaldosteronism type 1//pseudoprimary hyperaldosteronism//scnn1b liddle syndrome//scnn1g liddle syndrome//syndrome, liddle	SCNN1A;SCNN1G;SCNN1B	SCNN1A;SCNN1G;SCNN1B	https://raresource.nih.gov/literature/disease/0007381	0007381	618126	526	C0221043	D056929		sodium channel epithelial 1 subunit alpha;sodium channel epithelial 1 subunit gamma;sodium channel epithelial 1 subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Liddle syndrome"	0	0	597
Sporadic pheochromocytoma/secreting paraganglioma	adrenal gland chromaffin paraganglioma//adrenal gland chromaffinoma//adrenal gland paraganglioma//adrenal gland pheochromocytoma//chromaffin paraganglioma of the adrenal gland//intraadrenal paraganglioma//pheochromocytoma//sporadic pheochromocytoma/secreting paraganglioma	DNMT3A;VHL;RET;SDHD;SDHB;EPAS1	DNMT3A;VHL;RET;SDHD;SDHB;EPAS1	https://raresource.nih.gov/literature/disease/0007385	0007385		276621				DNA methyltransferase 3 alpha;von Hippel-Lindau tumor suppressor;ret proto-oncogene;succinate dehydrogenase complex subunit D;succinate dehydrogenase complex iron sulfur subunit B;endothelial PAS domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sporadic pheochromocytoma/secreting paraganglioma"	0	0	15016
Roberts syndrome	appelt-gerken-lenz syndrome//hypomelia hypotrichosis facial hemangioma syndrome//hypomelia-hypotrichosis-facial hemangioma syndrome//long bone deficiencies associated with cleft lip-palate//pseudothalidomide syndrome//rbs//roberts syndrome//roberts syndrome; rbs//robert's syndrome//roberts syndrome/sc phocomelia//roberts tetraphocomelia syndrome//roberts-sc phocomelia syndrome//sc phocomelia syndrome//sc pseudothalidomide syndrome//sc phocomelia//sc phocomelia syndrome (mild variant of roberts syndrome)//sc syndrome//tetraphocomelia-cleft palate syndrome//phocomelia-pseudothalidomide 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 syndrome"	0	0	259
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	deficiency of phosphoglycerate kinase//gsd due to phosphoglycerate kinase 1 deficiency//glycogenosis due to phosphoglycerate kinase 1 deficiency//pgk deficiency//pgk1 deficiency//pgk1 glycogen storage disease//phosphoglycerate kinase 1 deficiency//phosphoglycerate kinase deficiency//glycogen storage disease caused by mutation in pgk1//glycogen storage disease due to phosphoglycerate kinase 1 deficiency	PGK1	PGK1	https://raresource.nih.gov/literature/disease/0007389	0007389	300653	713	C1970848			phosphoglycerate kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	0	0	76
Behavioral variant of frontotemporal dementia	atrophies, lobar (brain)//atrophy, lobar (brain)//brain atrophy, circumscribed lobar//circumscribed lobar atrophy of the brain//dementia with lobar atrophy and neuronal cytoplasmic inclusions//dementia in pick's disease//dementia in pick's disease (disorder)//disease, pick//disease, pick's//ftd//ftld//frontotemporal degeneration//lobar atrophy of brain//lobar atrophies (brain)//lobar atrophy (brain)//lobar atrophy of the brain//mapt-related disorders//pick disease of brain//pick disease//pick disease of the brain//pick's disease//pick's disease (disorder)//picks disease//picks disease of brain//bv-ftd//bvftd//frontotemporal lobar degeneration	TMEM106B;VCP;TREM2;SQSTM1;MAPT;PSEN1;GRN;CHMP2B	TMEM106B;VCP;TREM2;SQSTM1;MAPT;PSEN1;GRN;CHMP2B	https://raresource.nih.gov/literature/disease/0007392	0007392	172700	275864				transmembrane protein 106B;valosin containing protein;triggering receptor expressed on myeloid cells 2;sequestosome 1;microtubule associated protein tau;presenilin 1;granulin precursor;charged multivesicular body protein 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Behavioral variant of frontotemporal dementia"	0	0	9346
Isolated growth hormone deficiency type IA	congenital ighd//congenital ighd type ia//congenital isolated gh deficiency//congenital isolated gh deficiency type ia//congenital isolated growth hormone deficiency//congenital isolated growth hormone deficiency type ia//growth hormone deficiency, isolated, autosomal recessive//growth hormone deficiency, isolated autosomal recessive//ighd 1a//ighd ia//ighd1a//ighd5//illig type growth hormone deficiency//illig-type growth hormone deficiency//isolated growth hormone deficiency, type v; ighd5//isolated growth hormone deficiency, type ia//isolated growth hormone deficiency type 1a//isolated growth hormone deficiency, type 1b//nanism due to growth hormone isolated deficiency//non-acquired isolated growth hormone deficiency//pituitary dwarfism i//primordial dwarfism//pituitary dwarfism 1//sexual ateleiotic dwarfism//autosomal recessive isolated growth hormone deficiency//isolated growth hormone deficiency, type 1a//isolated growth hormone deficiency type ia//isolated growth hormone deficiency, type ia; ighd1a	RNPC3;GH1	RNPC3;GH1	https://raresource.nih.gov/literature/disease/0007399	0007399	618160	231662				RNA binding region (RNP1, RRM) containing 3;growth hormone 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated growth hormone deficiency type IA"	0	0	160
Pityriasis rubra pilaris	devergie's disease//lichen ruber acuminatus//pityriasis rubra pilaris; prp//prp//prp - pityriasis rubra pilaris//pityriasis rubra pilaris--familial type//familial pityriasis rubra pilaris//hereditary pityriasis rubra pilaris//pityriasis rubra pilaris	CARD14	CARD14	https://raresource.nih.gov/literature/disease/0007401	0007401	173200	2897	C0032027	D010916		caspase recruitment domain family member 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pityriasis rubra pilaris"	0	0	100
Polycythemia vera	acquired primary erythrocytosis//disease, osler-vaquez//erythremia//erythremias//osler vaquez disease//osler-vaquez disease//osler-vaquez syndrome//polycythemia rubra vera//ppp - primary proliferative polycythemia//prv//prv - polycythemia rubra vera//pv//polycythaemia rubra vera//polycythemia ruba vera//polycythemia ruba veras//polycythemia rubra veras//polycythemia vera (clinical)//polycythemia vera, somatic//polycythemia, primary//polycythemias, primary//primary polycythemia//primary polycythemias//primary proliferative polycythemia//proliferative polycythaemia//proliferative polycythemia//ruba vera, polycythemia//ruba veras, polycythemia//vaquez disease//vaquez's disease//vera, polycythemia ruba//vera, polycythemia rubra//veras, polycythemia ruba//veras, polycythemia rubra//acquired polycythemia vera//chronic erythremia//polycythemia vera//polycythemia vera; pv	MPL;JAK2;TET2	MPL;JAK2;TET2	https://raresource.nih.gov/literature/disease/0007422	0007422	263300	729	C0032463	D011087		MPL proto-oncogene, thrombopoietin receptor;Janus kinase 2;tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polycythemia vera"	0	0	8815
Posterior urethral valve	congenital posterior urethral valve//lower urinary tract obstruction, congenital; luto//luto//puv//puv - posterior urethral valve//posterior urethral valves//congenital posterior urethral valves//posterior urethral valve	BNC2	BNC2	https://raresource.nih.gov/literature/disease/0007439	0007439	618612	93110	C0542520			basonuclin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior urethral valve"	0	0	587
Primary biliary cholangitis	biliary cholangitides, primary//biliary cholangitis, primary//biliary cholangitis, secondary//biliary cirrhosis//biliary cirrhosis, primary//biliary cirrhosis, primary, 1//biliary cirrhosis, secondary//cholangitides, primary biliary//cholangitis, chronic nonsuppurative destructive//cholangitis, primary biliary//cholangitis, secondary biliary//chronic nonsuppurative destructive cholangitis//cirrhosis, biliary//cirrhosis, secondary biliary//familial primary biliary cirrhosis//hanot syndrome//hanot's cirrhosis//liver cirrhoses, biliary//liver cirrhosis, obstructive//obstructive liver cirrhosis//pbc//primary biliary cholangitides//primary biliary cholangitis//primary biliary cirrhosis//primary biliary cirrhosis (pbc)//secondary biliary cholangitides//secondary biliary cholangitis//secondary biliary cirrhosis//biliary liver cirrhosis//cholestatic cirrhosis//chronic non-suppurative destructive cholangitis//primary bilary cirrhosis (pbc)	IRF5;IL12RB1;SPIB;TNFSF15;MMEL1;TNPO3;IL12A;POU2AF1	IRF5;IL12RB1;SPIB;TNFSF15;MMEL1;TNPO3;IL12A;POU2AF1	https://raresource.nih.gov/literature/disease/0007459	0007459	613008	186	C0859942			interferon regulatory factor 5;interleukin 12 receptor subunit beta 1;Spi-B transcription factor;TNF superfamily member 15;membrane metalloendopeptidase like 1;transportin 3;interleukin 12A;POU class 2 homeobox associating factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary biliary cholangitis"	0	0	11089
Hutchinson-Gilford progeria syndrome	hgps//hutchinson gilford progeria syndrome//hutchinson gilford syndrome//hutchinson-gilford disease//hutchinson-gilford progeria syndrome//hutchinson-gilford progeria syndromes//hutchinson-gilford syndrome//hutchinson-gilford progeria syndrome; hgps//hutchinson-gilford syndrome (disorder)//progeria//progeria syndrome, childhood-onset//premature senility syndrome//progeria (disorder)//progeria syndrome, hutchinson-gilford//progeria syndromes, hutchinson-gilford//progeria syndrome//progeria syndrome (disorder) [ambiguous]//progerin-producing progeroid laminopathy//progeroid laminopathies//syndrome, hutchinson-gilford	ZMPSTE24;LMNA	ZMPSTE24;LMNA	https://raresource.nih.gov/literature/disease/0007467	0007467	176670	740	C0033300	D011371		zinc metallopeptidase STE24;lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hutchinson-Gilford progeria syndrome"	0	0	1501
Prolidase deficiency	deficiencies, imidodipeptidase//deficiencies, prolidase//deficiency of imidodipeptidase//deficiency of prolidase//deficiency of proline dipeptidase//deficiency, imidodipeptidase//deficiency, prolidase//hyperimidodipeptiduria//hyperimidodipeptiduria due to proline dipeptidase deficiency//hyperimidodipeptidurias//imidodipeptidase deficiencies//imidodipeptidase deficiency//iminodipeptiduria//pd//peptidase deficiency//prolidase deficiencies//prolidase deficiency	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"	0	0	623
Proteus syndrome	elattoproteus syndrome//elephant man disease//gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly//hemihypertrophy and macrocephaly//macrocephaly mesodermal hamartoma spectrum//proteus syndrome, somatic//partial gigantism - nevi - hemihypertrophy - macrocephaly//partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly//partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome//proteus like syndrome//proteus-like syndrome//syndrome, proteus-like//wiedemann's syndrome	AKT1;PTEN	AKT1;PTEN	https://raresource.nih.gov/literature/disease/0007475	0007475	176920	744	C0085261	D016715		AKT serine/threonine kinase 1;phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteus syndrome"	0	0	582
Prune belly syndrome	abdominal muscle deficiency syndrome//eagle-barret syndrome//obrinsky syndrome//triad syndrome	CHRM3	CHRM3	https://raresource.nih.gov/literature/disease/0007479	0007479	100100	2970	C0265363	D011535		cholinergic receptor muscarinic 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Prune belly syndrome"	0	0	733
Butyrylcholinesterase deficiency	acholinesterasemia//apnea, postanesthetic//acylcholine acylhydrolase deficiency//bche deficiency//bche, silent 1//bched//butyrylcholinesterase deficiency, fluoride-resistant, japanese type//che1 deficiency//cholinesterase 2 deficiency//deficiency of butyrylcholine esterase//deficiency of butyrylcholinesterase//hypocholinesterasemia, fluoride-resistant, japanese type//mivacurium response//pseudocholinesterase deficiency//pseudocholinesterase e1//pseudocholinesterase e1 deficiency//suxamethonium sensitivity//succinylcholine sensitivity//butyrylcholinesterase deficiency//butyrylcholinesterase deficiency; bched	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[]=Butyrylcholinesterase deficiency"	0	0	114
Pseudohypoparathyroidism type 1A	aho-php syndrome ia//albright hereditary osteodystrophy-php syndrome ia	GNAS	GNAS	https://raresource.nih.gov/literature/disease/0007486	0007486	103580	79443	C3494506			GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoparathyroidism type 1A"	0	0	1137
Autoimmune pulmonary alveolar proteinosis	apap//acquired pulmonary alveolar proteinosis//autoimmune pap//idiopathic pap//idiopathic pulmonary alveolar proteinosis//pap//pap acquired//pap, acquired//pulmonary alveolar lipoproteinosis, acquired//pulmonary alveolar proteinosis, autoimmune//pulmonary alveolar lipoproteinosis acquired//pulmonary alveolar proteinosis acquired//pulmonary alveolar proteinosis autoimmune//autoimmune pulmonary alveolar proteinosis//ipap//pulmonary alveolar proteinosis, acquired	HLA-DRB1	HLA-DRB1	https://raresource.nih.gov/literature/disease/0007499	0007499	610910	747	C1970472			major histocompatibility complex, class II, DR beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune pulmonary alveolar proteinosis"	0	0	1321
Hemolytic anemia due to red cell pyruvate kinase deficiency	deficiency of phosphoenol transphosphorylase//deficiency of phosphoenolpyruvate kinase//deficiency of pyruvate kinase//pk - pyruvate kinase deficiency//pk deficiency//pyruvate kinase deficiency of erythrocyte//pyruvate kinase deficiency//pyruvate kinase deficiency of erythrocytes//pyruvate kinase deficiency of red cells//pyruvate kinase deficiency, amish type//hemolytic anemia due to pyruvate kinase deficiency//hemolytic anemia due to red cell pyruvate kinase deficiency	PKLR	PKLR	https://raresource.nih.gov/literature/disease/0007514	0007514	266200	766	C0340968			pyruvate kinase L/R	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemolytic anemia due to red cell pyruvate kinase deficiency"	0	0	2065
Ramon syndrome	cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth//cherubism - gingival fibromatosis - intellectual disability//cherubism-gingival fibromatosis-intellectual disability syndrome//gingival fibromatosis combined with cherubism//ramon 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"	0	0	9
Familial renal glucosuria	familial renal glycosuria//glycosuria, renal//glys//glys1//renal glucosuria, autosomal dominant//renal glucosuria//renal glycosuria//sglt2 deficiency//familial renal glucosuria//renal diabetes//renal glucosuria; glys	SLC5A2	SLC5A2	https://raresource.nih.gov/literature/disease/0007548	0007548	233100	69076	C0017980			solute carrier family 5 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial renal glucosuria"	0	0	426
Familial dysautonomia	dys//dysautonomia, familial//dominant hereditary sensory neuropathy, type iii//fd//familial dysautonomia//hsan (hereditary sensory and autonomic neuropathy) type iii//hsan 3//hsan iii//hsan type iii//hsan3//hsn 3//hsn-iii//hereditary sensory neuropathy type 3//hereditary sensory neuropathy, dominant, type 3//hereditary sensory neuropathy, dominant, type iii//hereditary sensory neuropathy, type 3, dominant//hereditary sensory and autonomic neuropathy 3//hereditary sensory and autonomic neuropathy type iii//hereditary sensory and autonomic neuropathy type 3//hereditary sensory and autonomic neuropathy, type iii//hereditary-sensory and autonomic neuropathy type iii//neuropathy, hereditary sensory and autonomic, type iii//neuropathy, hereditary and autonomic, type iii//riley-day syndrome//riley day syndrome//type 3 hereditary sensory neuropathy, dominant//type iii hereditary sensory neuropathy, dominant//familial autonomic nervous dysfunction//neuropathy, hereditary sensory and autonomic, type 3//neuropathy, hereditary sensory and autonomic, type iii; hsan3	ELP1	ELP1	https://raresource.nih.gov/literature/disease/0007581	0007581	223900	1764	C0013364	D004402		elongator complex protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial dysautonomia"	0	0	5443
Saethre-Chotzen syndrome	acrocephalosyndactyly, type iii//acrocephaly, skull asymmetry, and mild syndactyly//acs 3//acs iii//acs3//auralcephalosyndactyly//acrocephalo-syndactyly, type 3//acrocephalosyndactylies, type 3//acrocephalosyndactylies, type iii//acrocephalosyndactyly iii//acrocephalosyndactyly iiis//acrocephalosyndactyly type 3//aural cephalosyndactyly//blepharophimosis, epicanthus inversus, and ptosis 3, formerly//bpes3, formerly//blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)//chotzen syndrome//dysostosis craniofacialis with hypertelorism//kurczynski-casperson syndrome//saethre-chotzen syndrome with eyelid anomalies//scs//saethre chotzen syndrome//saethre-chotzen syndrome, fgfr2-related//saethre-chotzen syndrome; scs//syndrome, chotzen//syndrome, saethre-chotzen//acrocephalosyndactyly type iii//acrocephalosyndactyly, type 3//aurocephalosyndactyly//blepharophimosis, epicanthus inversus, and ptosis 3//type iii acrocephalosyndactyly	FGFR2;TWIST1;FGFR3	FGFR2;TWIST1;FGFR3	https://raresource.nih.gov/literature/disease/0007598	0007598	180750	794	C0175699			fibroblast growth factor receptor 2;twist family bHLH transcription factor 1;fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Saethre-Chotzen syndrome"	0	0	792
Sandhoff disease, infantile form	hexosaminidases a and b deficiency//infantile gm2 gangliosidosis 0 variant//infantile form	HEXB	HEXB	https://raresource.nih.gov/literature/disease/0007604	0007604	268800	309155	C1849322			hexosaminidase subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sandhoff disease, infantile form"	0	0	None
Sarcoidosis	besnier-boeck-schaumann disease//boeck sarcoid	HLA-DRB1;BTNL2	HLA-DRB1;BTNL2	https://raresource.nih.gov/literature/disease/0007607	0007607	181000	797	C0036202	D012507		major histocompatibility complex, class II, DR beta 1;butyrophilin like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sarcoidosis"	0	0	22334
X-linked scapuloperoneal muscular dystrophy	fhl1-related myofibrillar myopathy//myopathy, scapuloperoneal//scapuloperoneal myopathy, fhl1-related//spm//scapuloperoneal myopathy, x-linked dominant//x-linked spmd//x-linked dominant scapuloperoneal myopathy//x-linked scapuloperoneal syndrome//scapuloperoneal myopathy, x-linked dominant; spm	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0007608	0007608	300695	431272				four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked scapuloperoneal muscular dystrophy"	0	0	537
Kuru	encephalopathy, kuru//kuru encephalopathy//kuru encephalitis//kuru	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0007617	0007617	245300	454745	C0022802			prion protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kuru"	0	0	408
Septo-optic dysplasia spectrum	cphd5//de morsier syndrome//dysplasia, septooptic//growth hormone deficiency with pituitary anomalies//hesx1-related combined pituitary hormone deficiency//hypopituitarism and septooptic 'dysplasia'//pituitary hormone deficiency, combined, 5//sod//septo optic dysplasia with growth hormone deficiency//septo optic dysplasia//septo-optic dysplasia with growth hormone deficiency//septo-optic dysplasia//septooptic dysplasia//septooptic dysplasias//septo-optic dysplasia sequence//septo-optic dysplasia spectrum	HESX1;ARNT2;FGFR1;SOX2;SOX3;OTX2;PROKR2	HESX1;ARNT2;FGFR1;SOX2;SOX3;OTX2;PROKR2	https://raresource.nih.gov/literature/disease/0007627	0007627	182230	3157	C0338503	D025962		HESX homeobox 1;aryl hydrocarbon receptor nuclear translocator 2;fibroblast growth factor receptor 1;SRY-box transcription factor 2;SRY-box transcription factor 3;orthodenticle homeobox 2;prokineticin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Septo-optic dysplasia spectrum"	0	0	834
Sézary syndrome	ctcl / sezary syndrome//erythroderma, sezary//lymphoma, sezary's//sc)zary syndrome//sezary syndrome, somatic//ss//sezary erythroderma//sezary lymphoma//sezary disease//sezary syndrome//sezary's lymphoma//sezary's disease//sezarys lymphoma//syndrome, sezary//sézary disease//sézary lymphoma//sézary's disease//sézary's syndrome//cutaneous t-cell lymphoma/sezary syndrome	CTLA4;TNFRSF1B;CD28	CTLA4;TNFRSF1B;CD28	https://raresource.nih.gov/literature/disease/0007629	0007629		3162	C0036920	D012751		cytotoxic T-lymphocyte associated protein 4;TNF receptor superfamily member 1B;CD28 molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sézary syndrome"	0	0	10287
SHORT syndrome	aarskog-ose-pande syndrome//lipodystrophy, partial, with rieger anomaly and short stature//lipodystrophy - rieger anomaly - diabetes//lipodystrophy, partial, with rieger anomaly, and short stature//lipodystrophy-rieger anomaly-diabetes syndrome//partial lipodystrophy with rieger anomaly and short stature//rieger anomaly - partial lipodystrophy//rieger anomaly-partial lipodystrophy syndrome//short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay//short stature, hyperextensibility, hernia, ocular depression, rieger anomaly and teething delay//stature, hyperextensibility of joints or hernia (inguinal), ocular depression, rieger anomaly and teething delay//short syndrome	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"	0	0	61
Sialidosis type 1	cherry red spot myoclonus syndrome//cherry-red spot-myoclonus syndrome//lipomucopolysaccharidoses//lipomucopolysaccharidosis//ml i//mucolipidosis i//myoclonus cherry red spot syndrome//normomorphic sialidosis//sialidosis type i//normosomatic sialidosis//sialidosis type 1	NEU1	NEU1	https://raresource.nih.gov/literature/disease/0007639	0007639	256550	812	C0023806			neuraminidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sialidosis type 1"	0	0	111
Simpson-Golabi-Behmel syndrome	bulldog syndrome//dgsx//dgsx golabi-rosen syndrome//dysplasia gigantism syndrome, x-linked//golabi-rosen syndrome//gpc3 simpson-golabi-behmel syndrome//mental retardation-overgrowth syndrome//sdys//sgb syndrome//sgbs//sgbs1//simpson dysmorphia syndrome//sara angers syndrome//simpson dysplasia syndrome//simpson syndrome//simpson-golabi-behmel syndrome, type 1//simpson-golabi-behmel syndrome caused by mutation in gpc3//simpson-golabi-behmel syndrome type 1//simpson-golabi-behmel syndrome, type 1; sgbs1//x-linked dysplasia gigantism syndrome	GPC4;GPC3	GPC4;GPC3	https://raresource.nih.gov/literature/disease/0007649	0007649	312870	373	C0796154	C537340		glypican 4;glypican 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Simpson-Golabi-Behmel syndrome"	0	0	316
Sitosterolemia	macrothrombocytopenia/stomatocytosis, mediterranean//macrothrombocytopenia-stomatocytosis, mediterranean//phytosterolemia//plant sterol storage disease//pseudohomozygous familial hypercholesterolemia//retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body//stsl//stsl1//xanthomatosis with sisterolemia//sitosterolemia	ABCG5;ABCG8	ABCG5;ABCG8	https://raresource.nih.gov/literature/disease/0007653	0007653	210250	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"	0	0	346
Sjögren-Larsson syndrome	congenital icthyosis mental retardation spasticity syndrome//fadh deficiency//faldh deficiency//fao - fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency//fao deficiency//fatty alcohol:nad+ oxidoreductase deficiency//fatty aldehyde dehydrogenase deficiency//fatty aldehyde dehydrogenase deficiency disease//fatty acid alcohol oxidoreductase deficiency//fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency//ichthyosis, spastic neurologic disorder, and oligophrenia//ichthyosis oligophrenia syndrome//sls//sjogren larsson syndrome//sjogren-larsson syndrome//sjogren-larsson syndrome; sls//sjogren-larsson's syndrome	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"	0	0	579
Sneddon syndrome	cerebro-vascular lesions and livedo reticularis//ehrmann sneddon syndrome//ehrmann-sneddon syndrome//idiopathic livedo reticularis with systemic involvement//idiopathic livedo reticularis with systemic involvement (disorder)//livedo reticularis and cerebrovascular accidents//livedo reticularis, systemic involvement//livedo racemosa and cerebrovascular accident//livedo racemosa and cerebrovascular accidents//livedo racemosa-cerebrovascular accident syndrome//livedo reticularis and cerebrovascular accident syndrome//livedo reticularis-cerebrovascular accident syndrome//sndns//sneddon champion syndrome//sneddon syndrome//sneddon's syndrome//sneddon-champion syndrome//syndrome, sneddon//syndrome, sneddon-champion	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"	0	0	388
Gerstmann-Straussler-Scheinker syndrome	amyloidosis, cerebral, with spongiform encephalopathy//amyloidosis cerebral with spongiform encephalopathy//cerebellar ataxia, progressive dementia, and amyloid deposits in cns//cerebral amyloid angiopathy, prnp-related//cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system//disease, gerstmann-straussler//diseases, gerstmann-straussler//encephalopathy, subacute spongiform, gerstmann-straussler type//encephalopathy subacute spongiform gerstmann-straussler type//gerstmann-straussler disease//gerstmann-straussler-scheinker disease//gsd//gss//gss - gerstmann-straussler-scheinker syndrome//gssd//gerstmann straussler disease//gerstmann straussler inherited spongiform encephalopathy//gerstmann straussler scheinker disease//gerstmann straussler scheinker syndrome//gerstmann straussler syndrome//gerstmann-straussler diseases//gerstmann-straussler inherited spongiform encephalopathy//gerstmann-straussler syndrome//gerstmann-straussler disease; gsd//gerstmann-straussler type//gerstmann-straussler-scheinker syndrome//inherited spongiform encephalopathy, gerstmann straussler//inherited spongiform encephalopathy, gerstmann-straussler//prion dementia//spinocerebellar ataxia and plaque-like deposits//spongiform encephalopathy//subacute spongiform encephalopathy//subacute spongiform encephalopathy, gerstmann-straussler type	PRNP	PRNP	https://raresource.nih.gov/literature/disease/0007690	0007690	137440	356	C0017495	D016098		prion protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gerstmann-Straussler-Scheinker syndrome"	0	0	2037
Succinic semialdehyde dehydrogenase deficiency	4-hydroxybutyric aciduria//4-hydroxybutyricaciduria//gaba metabolic defect//gabauria//gamma-hydroxybutyric aciduria//gamma-hydroxybutyric acidemia//gamma-hydroxybutyricaciduria//ssadh//ssadh deficiency//ssadhd//succinate-semialdehyde dehydrogenase deficiency//succinic semialdehyde dehydrogenase deficiency//succinic semialdehyde dehydrogenase deficiency; ssadhd	ALDH5A1	ALDH5A1	https://raresource.nih.gov/literature/disease/0007695	0007695	271980	22	C0268631			aldehyde dehydrogenase 5 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Succinic semialdehyde dehydrogenase deficiency"	0	0	270
Stevens-Johnson syndrome	dermatostomatitis//dermatostomatitis, stevens johnson type//drug induced stevens johnson syndrome//drug-induced stevens johnson syndrome//drug-induced stevens-johnson syndrome//drug-induced stevens-johnson syndromes//epidermal necrolyses, toxic//epidermal necrolysis, toxic//lyell syndrome//lyell's syndrome//lyell's syndromes//mycoplasma induced stevens johnson syndrome//mycoplasma-induced stevens johnson syndrome//mycoplasma-induced stevens-johnson syndrome//necrolyses, toxic epidermal//necrolysis, toxic epidermal//nonstaphylococcal scalded skin syndrome//sjs/ten//scalded skin syndrome, nonstaphylococcal//stevens johnson syndrome//stevens johnson syndrome toxic epidermal necrolysis//stevens johnson syndrome toxic epidermal necrolysis spectrum//stevens johnson type//stevens-johnson syndrome toxic epidermal necrolysis//stevens-johnson syndrome toxic epidermal necrolysis spectrum//stevens-johnson syndrome, drug-induced//stevens-johnson syndrome, mycoplasma-induced//stevens-johnson syndromes, drug-induced//stevens-johnson syndrome, susceptibility to//stevens-johnson syndrome/toxic epidermal necrolysis//susceptibility to severe cutaneous adverse reaction ity to//syndrome, lyell's//syndrome, mycoplasma-induced stevens-johnson//syndromes, lyell's//toxic epidermal necrolyses//toxic epidermal necrolysis//toxic epidermal necrolysis stevens johnson syndrome//toxic epidermal necrolysis stevens johnson syndrome spectrum//toxic epidermal necrolysis stevens-johnson syndrome//toxic epidermal necrolysis stevens-johnson syndrome spectrum//erythema multiforme major//hypersensitivity syndrome, carbamazepine-induced, susceptibility to//severe cutaneous adverse reaction, susceptibility to//toxic epidermal necrolysis, susceptibility to	IKZF1;HLA-B	IKZF1;HLA-B	https://raresource.nih.gov/literature/disease/0007700	0007700	608579	36426	C0038325	D013262		IKAROS family zinc finger 1;major histocompatibility complex, class I, B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Stevens-Johnson syndrome"	0	0	6914
Sturge-Weber syndrome	angiomatosis oculoorbital-thalamic syndrome//angiomatosis oculo-orbital-thalamo-encephalic syndrome//angiomatosis, meningo-oculo-facial//encephalocutaneous angiomatosis//encephalofacial hemangiomatosis syndrome//encephalofacial angiomatosis//encephalofacial hemangiomatosis//encephalotrigeminal angiomatosis//encephalotrigeminal syndrome//fourth phacomatosis//hemangiomatosis syndrome, encephalofacial//leptomeningeal angiomatosis//meningeal capillary angiomatosis//meningo oculo facial angiomatosis//meningo-oculo-facial angiomatosis//meningofacial angiomatosis-cerebral calcification syndrome//neuroretinoangiomatosis//parkes weber syndrome//parkes-weber syndrome//phakomatosis, sturge weber//phakomatosis, sturge-weber//sturge-weber syndrome, somatic, mosaic//sturge-weber syndrome; sws//sws//sws type i - facial and leptomeningeal angiomas//sws type ii - facial angioma alone, no cns involvement//sws type iii - isolated leptomeningeal angiomas//sturge disease//sturge kalischer weber syndrome//sturge syndrome//sturge weber dimitri syndrome//sturge weber krabbe syndrome//sturge weber syndrome//sturge's syndrome//sturge-kalischer-weber syndrome//sturge-weber phakomatosis//sturge-weber disease//sturge-weber sequence//sturge-weber-dimitri syndrome//sturge-weber-krabbe syndrome//sturge-weber-krabbe angiomatosis//syndrome, encephalofacial hemangiomatosis//syndrome, parkes weber//syndrome, parkes-weber//syndrome, sturge//syndrome, sturge's//syndrome, sturge-kalischer-weber//syndrome, sturge-weber//syndrome, sturge-weber-dimitri//syndrome, sturge-weber-krabbe	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"	0	0	1836
Congenital sucrase-isomaltase deficiency	csid//csid with minimal starch tolerance//csid with starch and lactose intolerance//csid with starch intolerance//csid without starch intolerance//csid without sucrose intolerance//congenital sucrase-isomaltase deficiency//congenital sucrose intolerance//congenital sucrose-isomaltose malabsorption//congenital sucrase-isomaltose malabsorption//congenital sucrase-isomaltose malabsorption with starch and lactose intolerance//congenital sucrase-isomaltose malabsorption without starch intolerance//congenital sucrose intolerance with starch and lactose intolerance//congenital sucrose isomaltose malabsorption//congenital sucrose-isomaltase malabsorption//disaccharide intolerance i//deficiency of isomaltase//deficiency of oligo-1,6-glucosidase//disaccharide intolerance//disaccharide intolerance with minimal starch tolerance//disaccharide intolerance with starch intolerance//disaccharide intolerance without sucrose intolerance//disaccharide intolerance, 1//si deficiency//sucrose intolerance, congenital//sucrose-isomaltose malabsorption, congenital//sucrase-isomaltase deficiency//sucrase-isomaltase deficiency, congenital//sucrose intolerance congenital//sucrose isomaltose enzyme deficiency//sucrose-isomaltase malabsorption, congenital//congenital sucrase-isomaltase deficiency with minimal starch tolerance//congenital sucrase-isomaltase deficiency with starch and lactose intolerance//congenital sucrase-isomaltase deficiency with starch intolerance//congenital sucrase-isomaltase deficiency without starch intolerance//congenital sucrase-isomaltase deficiency without sucrose intolerance//congenital sucrase-isomaltose malabsorption with minimal starch tolerance//congenital sucrase-isomaltose malabsorption with starch intolerance//congenital sucrose intolerance with minimal starch tolerance//congenital sucrose intolerance with starch intolerance//congenital sucrose intolerance without starch intolerance//congenital sucrose malabsorption//congenital sucrose-isomaltase intolerance//congenital sucrose-isomaltose malabsorption without sucrose intolerance//disaccharide intolerance 1//disaccharide intolerance with starch and lactose intolerance//disaccharide intolerance without starch intolerance//genetic sucrase-isomaltose malabsorption//intestinal sucrase-a-dextrinase deficiency//invertase deficiency//sucrase-alpha-dextrinase deficiency//sucrase-isomaltase deficiency, congenital; csid	SI	SI	https://raresource.nih.gov/literature/disease/0007710	0007710	222900	35122	C1283620	C538139		sucrase-isomaltase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital sucrase-isomaltase deficiency"	0	0	191
Synovial sarcoma	malignant synovioma//ss//sarcomas, synovial//synovial sarcoma//synovial sarcoma, nos//synovial sarcoma, not otherwise specified//synovial sarcomas//synovial cell sarcoma//synovialosarcoma//synovioma//synovioma, malignant//synoviomas//sarcoma, synovial//sarcoma, synovial, malignant//synovial sarcoma (disease)	SSX1;SSX2;SS18	SSX1;SSX2;SS18	https://raresource.nih.gov/literature/disease/0007721	0007721	300813	3273	C0039101			SSX family member 1;SSX family member 2;SS18 subunit of BAF chromatin remodeling complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Synovial sarcoma"	0	0	11831
Takayasu arteritis	aortic arch syndrome//acquired aortoarteritis//aortic arch arteritis//aortitis syndrome//arteritides, young female//arteritis, takayasu//arteritis, takayasu's//arteritis, takayasus//arteritis, young female//atypical coarctation//disease, takayasu//female arteritides, young//female arteritis, young//idiopathic aortitis//idiopathic medial aortopathy and arteriopathy//martorell syndrome//nonspecific aortoarteritis//nonspecific arteritis//occlusive thromboarteriopathy//pulseless disease//primary arteritis//raeder-harbitz syndrome//reverse coarctation//sclerosing aortitis and arteritis//syndrome, aortitis//ta//takayasu disease//takayasu syndrome//takayasu's arteritis//takayasu's arteriopathy//takayasu's disease//takayasus arteritis//young female arteritis//young female arteritides//pharyngeal arch artery syndromic disease	HLA-B;IL12B;MLX	HLA-B;IL12B;MLX	https://raresource.nih.gov/literature/disease/0007730	0007730	207600	3287	C0039263	D013625		major histocompatibility complex, class I, B;interleukin 12B;MAX dimerization protein MLX	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Takayasu arteritis"	0	0	7604
Tangier disease	a-alphalipoprotein neuropathies//a-alphalipoprotein neuropathy//analphalipoproteinemia//atp-binding cassette transporter a1 deficiency//alpha high density lipoprotein deficiency disease//analphalipo-proteinemia//analphalipoproteinemias//analphaliproteinemia//cholesterol thesaurismoses//cholesterol thesaurismosis//familial hypoalphalipo-proteinemia//familial high density lipoprotein deficiency disease//hdl lipoprotein deficiency disease//hdldt1//high density lipoprotein deficiency, tangier type//high density lipoprotein deficiency, type 1//high density lipoprotein deficiency, type i//high-density lipoprotein deficiency, tangier type//high-density lipoprotein deficiency, type i//neuropathies, a-alphalipoprotein//neuropathy of tangier disease//neuropathy, a-alphalipoprotein//tgd//tangier disease neuropathy//tangier hereditary neuropathy//tangier disease; tgd//thesaurismoses, cholesterol//thesaurismosis, cholesterol//defective adenosine triphosphate-binding cassette transporter a1//familial alpha-lipoprotein deficiency//familial high density lipoprotein deficiency//familial hypoalphalipoproteinemia	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"	0	0	1090
Tietz syndrome	albinism-deafness of tietz//albinism and complete nerve deafness//albinism-deafness syndrome of tietz//hypopigmentation/deafness of tietz//hypopigmentation-deafness of tietz//hypopigmentation-deafness syndrome//hypopigmentation-hearing loss syndrome//tads//tietz syndrome//tietz albinism-deafness syndrome//tietz albinism-deafness syndrome; tads	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"	0	0	44
Townes-Brocks syndrome	anus, imperforate, with hand, foot, and ear anomalies//anal-ear-renal-radial malformation syndrome//anus, imperforate, with hand, foot and ear anomalies//deafness, sensorineural, with imperforate anus and thumb anomalies//deafness, sensorineural, with imperforate anus and hypoplastic thumbs//deafness-imperforate anus-hypoplastic thumbs syndrome//imperforate anus-hand and foot anomalies syndrome//imperforate anus with hand, foot and ear anomalies//imperforate anus-hand//imperforate anus-hand, foot and ear anomalies syndrome//rear syndrome//renal-ear-anal-radial syndrome//renal-ear-anal-radial syndrome (rear)//sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome//sensorineural deafness with imperforate anus and hypoplastic thumbs//sensorineural hearing loss with imperforate anus and hypoplastic thumbs//tbs//tbs1//tbs2//townes-brocks-branchiootorenal-like syndrome//townes brocks syndrome//townes syndrome//townes-brocks syndrome 1//townes-brocks syndrome 1; tbs1//townes-brocks syndrome 2; tbs2//townes-brocks syndrome; tbs//foot and ear anomalies syndrome	SALL1;DACT1	SALL1;DACT1	https://raresource.nih.gov/literature/disease/0007784	0007784	107480	857	C0265246	C536974		spalt like transcription factor 1;dishevelled binding antagonist of beta catenin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Townes-Brocks syndrome"	0	0	244
Tricho-dento-osseous syndrome	amelogenesis imperfecta - osteosclerosis syndrome//enamel hypoplasia and hypocalcification with associated strikingly curly hair//tdo//tdo - trichodento-osseous syndrome//tdo syndrome//tdo syndrome 1//trichodentoosseous syndrome//trichodentoosseous syndrome; tdo//taurodontism - curly hair - osteosclerosis syndrome//tricho-dento-osseous syndrome 1//trichodento-osseous syndrome//kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails//tricho-dento-osseous 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"	0	0	84
Trichorhinophalangeal syndrome, type i	giedion syndrome//sugio-kajii syndrome//trps 1//trps i//trps1//trichorhinophalangeal (trp) syndrome 1//trichorhinophalangeal dysplasia 1//trichorhinophalangeal syndrome type 1//trichorhinophalangeal dysplasia type i//trichorhinophalangeal syndrome type i//trichorhinophalangeal syndrome, type 1//trichorhinophalangeal syndrome, type i//trichorhinophalangeal syndrome, type i; trps1//type i trichorhinophalangeal syndrome//type iii trichorhinophalangeal syndrome	TRPS1	TRPS1	https://raresource.nih.gov/literature/disease/0007800	0007800		77258	C0432233			transcriptional repressor GATA binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichorhinophalangeal syndrome, type i"	0	0	83
Trichorhinophalangeal syndrome type 2	acrodysplasia v//acrodysplasia vs//chromosome 8q24.1 deletion syndrome//deletion 8q24.1//giedion langer syndrome//giedion-langer syndrome//langer-giedion syndrome//lgs//langer giedion syndrome//monosomy 8q24.1//syndrome, giedion-langer//syndrome, langer-giedion//trps 2//trps ii - trichorhinophalangeal syndrome ii//trps2//trpsii//tricho rhino phalangeal syndrome type ii//tricho-rhino-phalangeal syndrome type ii//trichorhinophalangeal syndrome type 2//trichorhinophalangeal syndrome type ii//trichorhinophalangeal syndrome with exostoses//trichorhinophalangeal syndrome, type ii//trichorhinophalangeal dysplasia type ii//trichorhinophalangeal syndrome ii//trichorhinophalangeal syndrome with exostosis//trichorhinophalangeal syndrome, type 2//trichorhinophalangeal syndrome, type ii; trps2	TRPS1;EXT1	TRPS1;EXT1	https://raresource.nih.gov/literature/disease/0007801	0007801	150230	502	C2931237	D015826		transcriptional repressor GATA binding 1;exostosin glycosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichorhinophalangeal syndrome type 2"	0	0	669
Trichorhinophalangeal syndrome, type iii	sugio-kajii syndrome//trps 3//trps3//trichorhinophalangeal syndrome type 3//trichorhinophalangeal syndrome, type 3//trichorhinophalangeal syndrome, type iii//trichorhinophalangeal syndrome, type iii; trps3	TRPS1	TRPS1	https://raresource.nih.gov/literature/disease/0007802	0007802		77258	C1860823			transcriptional repressor GATA binding 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichorhinophalangeal syndrome, type iii"	0	0	7
Tuberous sclerosis complex	adenoma sebaceum//adenoma sebaceum syndrome//bourneville disease//bourneville phacomatosis//bourneville phakomatosis//bourneville pringle disease//bourneville pringle's disease//bourneville syndrome//bourneville's disease//bourneville's syndrome//bourneville-pringle disease//bourneville-pringle's disease//bourneville-pringles disease//cerebral scleroses//cerebral sclerosis//disease, bourneville-pringle//disease, bourneville-pringle's//epiloia//phacomatosis, bourneville//phakomatosis, bourneville//sclerosis tuberosa//sclerosis, cerebral//sclerosis, tuberose//sclerosis, tuberous//syndrome, bourneville//syndrome, bourneville's//ts//ts - tuberous sclerosis//tsc//tuberose sclerosis//tuberous sclerosis//tuberous sclerosis complex//tuberous sclerosis syndrome	TSC1;IFNG;TSC2	TSC1;IFNG;TSC2	https://raresource.nih.gov/literature/disease/0007830	0007830	613254	805	C0041341	D014402		TSC complex subunit 1;interferon gamma;TSC complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tuberous sclerosis complex"	0	0	14134
Van der woude syndrome 2	grhl3 van der woude syndrome//van der woude syndrome 2; vws2//vws2//van der woude syndrome type 2//van der woude syndrome 2//van der woude syndrome caused by mutation in grhl3	GRHL3	GRHL3	https://raresource.nih.gov/literature/disease/0007846	0007846			C1847604			grainyhead like transcription factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Van der woude syndrome 2"	0	0	219
Porphyria variegata	dean-barnes syndrome//deficiency, ppox//mixed porphyria//porphyria variegata//porphyria, south african type//ppox deficiency//protoporphyrinogen oxidase deficiency//porphyria variegate//porphyria, variegate//ppox deficiencies//protocoproporphyria//south african genetic porphyria//south african porphyria//variegate porphyria, homozygous variant//vp//vp - variegate porphyria//variegate porphyria	PPOX	PPOX	https://raresource.nih.gov/literature/disease/0007848	0007848	176200	79473	C0162532			protoporphyrinogen oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porphyria variegata"	0	0	1097
Von Hippel-Lindau disease	angiomatoses, familial cerebello-retinal//angiomatoses, familial cerebelloretinal//angiomatosis retinae//angiomatosis, familial cerebello-retinal//angiomatosis, familial cerebelloretinal//cerebello-retinal angiomatoses, familial//cerebello-retinal angiomatosis, familial//cerebelloretinal angiomatoses, familial//cerebelloretinal angiomatosis, familial//familial cerebello retinal angiomatosis//familial cerebello-retinal angiomatoses//familial cerebello-retinal angiomatosis//familial cerebelloretinal angiomatoses//familial cerebelloretinal angiomatosis//hippel lindau disease//hippel lindau syndrome//hippel-lindau disease//lindau disease//lindau' disease//lindau's disease//lindau's diseases//lindaus disease//vhl//vhl - von hippel-lindau syndrome//vhl syndrome//vhl syndromes//vhls//von hippel-lindau syndrome, modifiers of//von hippel-lindau syndrome; vhl//von hippel lindau disease//von hippel-lindau//von hippel-lindau disease//von hippel-lindau syndrome//von hippel-lindau syndrome (vhl)//cerebroretinal angiomatosis//von hippel lindau syndrome	VHL;CCND1	VHL;CCND1	https://raresource.nih.gov/literature/disease/0007855	0007855	193300	892	C0019562	D006623		von Hippel-Lindau tumor suppressor;cyclin D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Von Hippel-Lindau disease"	0	0	530
Pseudopseudohypoparathyroidism	aho - pphp//aho-pphp syndrome//albright hereditary osteodystrophy without multiple hormone resistance//albright hereditary osteodystrophy with multiple hormone resistance//albright hereditary osteodystrophy - pphp//albright hereditary osteodystrophy-pphp syndrome//normocalcemic pseudohypoparathyroidism//normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]//pphp//pseudo pseudohypoparathyroidism//pseudo-pseudohypoparathyroidism//pseudo-pseudohypoparathyroidisms//pseudopseudo hypoparathyroidism//pseudopseudo-hypoparathyroidism//pseudopseudo-hypoparathyroidisms//pseudopseudohypoparathyroidisms//pseudopseudohypoparathyroidism//pseudopseudohypoparathyroidism; 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"	0	0	269
Vogt-Koyanagi-Harada disease	disease, vogt-koyanagi-harada//harada disease//harada's disease//syndrome, uveomeningoencephalitic//syndrome, vkh//syndrome, vkh (vogt koyanagi harada)//syndrome, vogt koyanagi harada//syndrome, vogt-koyanagi-harada//uveomenigitic syndrome//uveomeningoencephalitides//uveomeningoencephalitis//vkh (vogt koyanagi harada) syndrome//vkh - vogt-koyanagi-harada syndrome//vkh syndrome//vkh syndrome (vogt koyanagi harada)//vkh disease//vogt koyanagi harada disease//vogt koyanagi harada syndrome//vogt's disease//vogt-koyanagi syndrome//vogt-koyanagi-harada disease//vogt-koyanagi-harada syndrome//vogt-koyanagi-harada disease (disorder)//uveomeningoencephalitic syndrome	FAS;PTPN22	FAS;PTPN22	https://raresource.nih.gov/literature/disease/0007862	0007862		3437	C0042170			Fas cell surface death receptor;protein tyrosine phosphatase non-receptor type 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vogt-Koyanagi-Harada disease"	0	0	1745
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	g6p deficiency type 1a//g6p deficiency type a//g6pc glycogen storage disease//glucose-6-phosphatase deficiency//glycogen storage disease i//gsd ia//gsd due to g6p deficiency type 1a//gsd due to g6p deficiency type ia//gsd due to g6p deficiency type a//gsd type 1a//gsd1//gsd1a//gsdia//glucose-6 phosphatase deficiency//glucose-6-phosphatase deficiency glycogen storage disease//glycogen storage disease type ia//glycogen storage disease 1a//glycogen storage disease due to g6p deficiency type ia//glycogen storage disease due to g6p deficiency type a//glycogen storage disease type 1a//glycogenosis due to glucose-6-phosphatase deficiency type 1a//glycogenosis due to glucose-6-phosphatase deficiency type ia//glycogenosis due to glucose-6-phosphatase deficiency type a//glycogenosis type 1//glycogenosis type ia//hepatorenal form of glycogen storage disease//hepatorenal glycogenosis//von gierke disease//glycogen storage disease 1//glycogen storage disease ia//glycogen storage disease ia; gsd1a//glycogen storage disease caused by mutation in g6pc//glycogen storage disease due to glucose-6-phosphatase deficiency type ia	G6PC1	G6PC1	https://raresource.nih.gov/literature/disease/0007864	0007864	232200	79258	C2919796			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"	0	0	541
Wagner disease	dominant hyaloideoretinal dystrophy of wagner//erosive vitreoretinopathy//ervr//hyaloideoretinal degeneration of wagner//vcan-related vitreoretinopathy//vitreoretinal degeneration//vitreoretinal degeneration, wagner type//wagner syndrome 1//wagner vitreoretinal degeneration//wagner vitreoretinopathy//wgn1//wgvrp//wagner disease//wagner syndrome//wagner disease (formerly)//wagner syndrome type 1//wagner type//wagner vitreoretinopathy; wgvrp	VCAN	VCAN	https://raresource.nih.gov/literature/disease/0007871	0007871	143200	898	C0339540	C536075		versican	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wagner disease"	0	0	147
Waldenström macroglobulinemia	familial waldenstrom macroglobulinaemia//familial waldenstrom's macroglobulinaemia//familial waldenstroms macroglobulinaemia//lymphoma, lymphocytic, plasmacytoid//lymphoma, lymphoplasmacytoid//lymphomas, lymphoplasmacytoid//lymphoplasmacytic lymphoma//lymphoplasmacytic lymphoma with igm-production//lymphoplasmacytoid lymphoma//lymphoplasmacytoid lymphomas//macroglobulinaemia, familial waldenstrom's//macroglobulinaemia, waldenstrom's//macroglobulinemia//macroglobulinemia (idiopathic) (primary)//macroglobulinemia of waldenstrom//macroglobulinemia, primary//macroglobulinemia, waldenstrom//macroglobulinemia, waldenstrom's//primary macroglobulinemia//wm1//waldenstroem's macroglobulinemia//waldenstrom macroglobulinaemia//waldenstrom macroglobulinemia//waldenstrom's macroglobulinaemia//waldenstrom's macroglobulinaemia, familial//waldenstrom's macroglobulinemia//waldenstrom's syndrome//waldenstroms macroglobulinaemia//waldenstroms macroglobulinemia//lymphoplasmacytic lymphoma with igm gammopathy//macroglobulinemia, waldenstrom, susceptibility to, 1//macroglobulinemia, waldenstrom, susceptibility to, 1; wm1//macroglobulinemia, waldenstrom, somatic	MYD88	MYD88	https://raresource.nih.gov/literature/disease/0007872	0007872	153600	33226	C0024419	D008258		MYD88 innate immune signal transduction adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Waldenström macroglobulinemia"	0	0	3293
Weaver syndrome	camptodactyly - overgrowth - unusual facies//camptodactyly-overgrowth-unusual facies syndrome//ezh2 related overgrowth//overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly//weaver syndrome; wvs//weaver-like syndrome//weaver-smith syndrome//wss//wvs//weaver smith syndrome//weaver williams syndrome//weaver like syndrome//weaver-williams syndrome//intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate//mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate	EED;EZH2;SUZ12;NSD1	EED;EZH2;SUZ12;NSD1	https://raresource.nih.gov/literature/disease/0007878	0007878	617561	3447	C0265210	C536687		embryonic ectoderm development;enhancer of zeste 2 polycomb repressive complex 2 subunit;SUZ12 polycomb repressive complex 2 subunit;nuclear receptor binding SET domain protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Weaver syndrome"	0	0	250
Granulomatosis with polyangiitis	gpa//granulomatosis with polyangiitides//granulomatosis with polyangiitis//granulomatosis, wegener//granulomatosis, wegener's//midline granulomatosis//necrotizing respiratory granulomatosis//pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis//polyangiitides, granulomatosis with//polyangiitis, granulomatosis with//wegener granulomatosis, formerly//wg//wg, formerly//wegener granulomatosis//wegener's granulomatosis//wegener's syndrome//granulomatosis - wegener's//with polyangiitides, granulomatosis//with polyangiitis, granulomatosis	PTPN22;HLA-DPA1;CTLA4;HLA-DPB1;PRTN3	PTPN22;HLA-DPA1;CTLA4;HLA-DPB1;PRTN3	https://raresource.nih.gov/literature/disease/0007880	0007880	608710	900	C3495801	D014890		protein tyrosine phosphatase non-receptor type 22;major histocompatibility complex, class II, DP alpha 1;cytotoxic T-lymphocyte associated protein 4;major histocompatibility complex, class II, DP beta 1;proteinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granulomatosis with polyangiitis"	0	0	7867
Proximal spinal muscular atrophy type 1	hmn (hereditary motor neuropathy) proximal type i//infantile spinal muscular atrophy//infantile-onset spinal muscular atrophy//muscular atrophy, infantile//proximal spinal muscular atrophy, type 1//sma i//sma type 1//sma type i//sma, infantile acute form//sma-i//sma1//sma 1//spinal muscular atrophy 1//werdnig-hoffmann disease//werdnig hoffmann disease//werdnig-hoffman disease//hereditary motor neuropathy proximal type i//infantile muscular atrophy//progressive muscular atrophy of infancy//proximal spinal muscular atrophy type 1//severe infantile spinal muscular atrophy//spinal muscular atrophies of childhood//spinal muscular atrophy, type i//spinal muscular atrophy, type i; sma1//survival motor neuron spinal muscular atrophy	NAIP;SMN2;SMN1	NAIP;SMN2;SMN1	https://raresource.nih.gov/literature/disease/0007883	0007883	253300	83330	C0043116			NLR family apoptosis inhibitory protein;survival of motor neuron 2, centromeric;survival of motor neuron 1, telomeric	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal spinal muscular atrophy type 1"	0	0	704
Werner syndrome	adult premature aging syndrome//adult progeria//pangeria//progeria of the adult//progeria, adult//syndrome, werner//syndrome, werner's//syndrome, werners//wrn//ws//werner syndrome; wrn//werner's syndrome//werners syndrome//adult premature ageing syndrome	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"	0	0	3665
Infantile spasms syndrome	attack, lightning//attacks, lightning//is//infantile spasm//infantile spasms//intellectual disability - hypsarrhythmia//lightning attack//lightning attacks//lightning spasms//spasms, infantile//syndrome, west//tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on eeg//west syndrome//west's syndrome//x-linked infantile spasm syndrome//x-linked infantile spasms//intellectual disability-hypsarrhythmia syndrome	SIK1;ST3GAL3;SCN2A;PIGA;GRIN2B;WDR45;SPTAN1;PHACTR1;ARX;PLCB1;NTRK2;CDKL5;CNPY3;GUF1	SIK1;ST3GAL3;SCN2A;PIGA;GRIN2B;WDR45;SPTAN1;PHACTR1;ARX;PLCB1;NTRK2;CDKL5;CNPY3;GUF1	https://raresource.nih.gov/literature/disease/0007887	0007887	300672	3451	C0037769			salt inducible kinase 1;ST3 beta-galactoside alpha-2,3-sialyltransferase 3;sodium voltage-gated channel alpha subunit 2;phosphatidylinositol glycan anchor biosynthesis class A;glutamate ionotropic receptor NMDA type subunit 2B;WD repeat domain 45;spectrin alpha, non-erythrocytic 1;phosphatase and actin regulator 1;aristaless related homeobox;phospholipase C beta 1;neurotrophic receptor tyrosine kinase 2;cyclin dependent kinase like 5;canopy FGF signaling regulator 3;GTP binding elongation factor GUF1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile spasms syndrome"	0	0	8414
Whipple disease	disease, whipple//disease, whipple's//intestinal lipodystrophy//intestinal whipple's disease//intestinal lipophagic granulomatosis//lipodystrophy, intestinal//secondary non-tropical sprue//tropheryma whippelii infection//tropheryma whipplei caused disease or disorder//tropheryma whipplei disease or disorder//tropheryma whipplei infectious disease//wd - whipple's disease//whipple dis//whipples dis//whipple disease//whipple's disease//whipple's disease (disorder)//whipples disease	IRF4	IRF4	https://raresource.nih.gov/literature/disease/0007889	0007889		3452	C2930851	C531849		interferon regulatory factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Whipple disease"	0	0	1850
Intellectual disability-developmental delay-contractures 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//foot contractures-muscle atrophy-oculomotor apraxia syndrome//intellectual disability, developmental delay, contracture syndrome//mcs//mental retardation, x-linked, syndromic 4//mental retardation, x-linked, with congenital contractures and low fingertip arches//miles-carpenter x-linked mental retardation syndrome//mrxs4//miles-carpenter x-linked mental retardation syndrome; mcs//miles-carpenter syndrome//wieacker syndrome//wrwf//wrwfxlr//wws//wieacker wolff syndrome//wieacker-wolff syndrome//wieacker-wolff syndrome, x-linked//wieacker-wolff, x-linked recessive//x-linked intellectual disability, miles-carpenter type//intellectual disability-developmental delay-contractures syndrome	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[]=Intellectual disability-developmental delay-contractures syndrome"	0	0	1229
Williams syndrome	aortic stenoses, hypercalcemia-supravalvar//aortic stenosis, hypercalcemia-supravalvar//beuren syndrome//chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb//chromosome 7q11.23 deletion syndrome//contiguous gene syndrome, williams//deletion 7q11.23//fanconi schlesinger syndrome//hypercalcemia supravalvar aortic stenosis//hypercalcemia-supravalvar aortic stenoses//hypercalcemia-supravalvar aortic stenosis//monosomy 7q11.23//stenoses, hypercalcemia-supravalvar aortic//stenosis, hypercalcemia-supravalvar aortic//supravalvar aortic stenosis syndrome//syndrome, beuren//syndrome, williams//syndrome, williams-beuren//wbs//williams syndrome//wms//ws//william syndrome//williams beuren syndrome//williams contiguous gene syndrome//williams-beuren syndrome//williams-beuren syndrome (wbs)//williams-beuren syndrome; wbs	RFC2;BCL7B;STX1A;TBL2;GTF2I;EIF4H;MLXIPL;BUD23;DNAJC30;VPS37D;METTL27;TMEM270;CLIP2;GTF2IRD2;ELN;BAZ1B;NCF1;FKBP6;GTF2IRD1;LIMK1	RFC2;BCL7B;STX1A;TBL2;GTF2I;EIF4H;MLXIPL;BUD23;DNAJC30;VPS37D;METTL27;TMEM270;CLIP2;GTF2IRD2;ELN;BAZ1B;NCF1;FKBP6;GTF2IRD1;LIMK1	https://raresource.nih.gov/literature/disease/0007891	0007891	194050	904	C0175702	D018980		replication factor C subunit 2;BAF chromatin remodeling complex subunit BCL7B;syntaxin 1A;transducin beta like 2;general transcription factor IIi;eukaryotic translation initiation factor 4H;MLX interacting protein like;BUD23 rRNA methyltransferase and ribosome maturation factor;DnaJ heat shock protein family (Hsp40) member C30;VPS37D subunit of ESCRT-I;methyltransferase like 27;transmembrane protein 270;CAP-Gly domain containing linker protein 2;GTF2I repeat domain containing 2;elastin;bromodomain adjacent to zinc finger domain 1B;neutrophil cytosolic factor 1;FKBP prolyl isomerase family member 6 (inactive);GTF2I repeat domain containing 1;LIM domain kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Williams syndrome"	0	0	4329
Nephroblastoma	bilateral wilms tumor//embryonal adenosarcoma//embryonal nephroma//kidney nephroblastoma//kidney wilms tumor//nephroblastoma (wilms tumor)//nephroblastomas//nephroma//nonanaplastic renal wilm's tumor//nonanaplastic renal wilm's tumour//renal wilms tumor//renal wilms' tumor//renal adenosarcoma//renal embryonic tumor//tumor, bilateral wilms//tumor, wilms//tumor, wilms'//wt1//wilm tumor//wilm's tumor//wilm's tumour//wilms tumor//wilms tumor 1//wilms tumor of the kidney//wilms tumor, bilateral//wilms tumor (nephroblastoma)//wilms tumour//wilms' tumor//wilms' tumor of the kidney//adult nephroblastoma//adult renal wilms' tumor//nephroblastoma//nephroblastoma, malignant//nonanaplastic renal wilms tumor//renal wilms' tumour	BRCA2;TRIP13;WT1;TRIM28;REST;POU6F2;DIS3L2;GPC3;H19	BRCA2;TRIP13;WT1;TRIM28;REST;POU6F2;DIS3L2;GPC3;H19	https://raresource.nih.gov/literature/disease/0007892	0007892	601583	654	C0027708	D009396		BRCA2 DNA repair associated;thyroid hormone receptor interactor 13;WT1 transcription factor;tripartite motif containing 28;RE1 silencing transcription factor;POU class 6 homeobox 2;DIS3 like 3'-5' exoribonuclease 2;glypican 3;H19 imprinted maternally expressed transcript	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephroblastoma"	0	0	10610
Wilson disease	cerebral pseudoscleroses//cerebral pseudosclerosis//copper storage disease//copper storage diseases//degeneration syndrome, hepatolenticular//degeneration syndromes, hepatolenticular//degeneration, hepatocerebral//degeneration, hepatolenticular//degeneration, neurohepatic//degeneration, progressive lenticular//degenerations, hepatocerebral//degenerations, neurohepatic//disease, copper storage//diseases, copper storage//diseases, hepato-neurologic wilson//diseases, kinnier-wilson//hepatolenticular degeneration//hepatic form of wilson disease//hepato neurologic wilson disease//hepato-neurologic wilson disease//hepato-neurologic wilson diseases//hepatocerebral degeneration//hepatocerebral degenerations//hepatolenticular degeneration syndrome//hepatolenticular degeneration syndromes//kinnier wilson disease//kinnier-wilson disease//kinnier-wilson diseases//lenticular degeneration, progressive//neurohepatic degeneration//neurohepatic degenerations//progressive lenticular degeneration//pseudoscleroses, cerebral//pseudosclerosis//pseudosclerosis, cerebral//storage disease, copper//storage diseases, copper//syndrome, hepatolenticular degeneration//syndromes, hepatolenticular degeneration//wd//wd - wilson's disease//wnd//westphal strumpell syndrome//westphal pseudosclerosis//westphal-strumpell syndrome//westphal-strumpell syndromes//wilson disease//wilson disease, hepatic form//wilson disease, hepato-neurologic//wilson diseases, hepato-neurologic//wilson's disease//wilsons disease	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"	0	0	7803
Winchester syndrome	al-qeel sewairi syndrome//torg winchester syndrome//wnchrs//winchester disease//winchester syndrome; wnchrs//winchester-grossman syndrome//multicentric osteolysis, nodulosis and arthropathy//noa syndrome//nodulosis arthropathy osteolysis syndrome	MMP14	MMP14	https://raresource.nih.gov/literature/disease/0007894	0007894			C0432289			matrix metallopeptidase 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Winchester syndrome"	0	0	40
Wiskott-Aldrich syndrome	aldrich syndrome//eczema-thrombocytopenia-immunodeficiency syndrome//eczema thrombocytopenia immunodeficiency syndrome//eczema, thrombocytopenia, immunodeficiency syndrome//eczema-thrombocytopenia-immunodeficiency syndromes//imd 2//imd2//immunodeficiency 2//immunodeficiency 2s//immunodeficiency with thrombocytopenia and eczema//syndrome, aldrich//syndrome, wiskott-aldrich//was//was - wiskott-aldrich syndrome//was-related disorders//was1//wiskott-aldrich syndrome 1//wiskott aldrich syndrome//wiskott syndrome//wiskott syndromes//wiskott-aldrich syndrome; was//wiskott-aldrich syndrome, somatic	WIPF1;WAS	WIPF1;WAS	https://raresource.nih.gov/literature/disease/0007895	0007895	600903	906	C0043194	D014923		WAS/WASL interacting protein family member 1;WASP actin nucleation promoting factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wiskott-Aldrich syndrome"	0	0	2444
Wolf-Hirschhorn syndrome	4p deletion syndrome//4p syndrome, chromosome//4p syndromes, chromosome//4p minus syndrome//4p partial monosomy syndrome//4p syndrome//4p- syndrome//chromosome 4p16.3 deletion syndrome//chromosome 4 short arm deletion syndrome//chromosome 4p deletion syndrome//chromosome 4p monosomy//chromosome 4p syndrome//chromosome 4p syndromes//del(4p) syndrome//deletion of short arm of chromosome 4//distal deletion 4p//distal monosomy 4p//mental retardation, unusual facies, and intrauterine growth retardation//microcephaly, iugr, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation//midline fusion defect syndrome//pitt syndrome//pitt-rogers-danks syndrome//prds//partial monosomy 4p//pitt rogers danks syndrome//pitt syndromes//prenatal and postnatal growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and absence of speech//syndrome, chromosome 4p//syndrome, pitt//syndrome, pitt-rogers-danks//syndrome, wolf//syndrome, wolf-hirchhorn//syndrome, wolf-hirschhorn//syndromes, chromosome 4p//syndromes, pitt//telomeric deletion 4p//whs//wittwer syndrome//wolf-hirschhorn syndrome; whs//wolf hirchhorn syndrome//wolf hirschhorn syndrome//wolf syndrome//wolf-hirchhorn syndrome//wolf-hirschhorn syndrome	CTBP1;NELFA;CPLX1;LETM1;PIGG;NSD2	CTBP1;NELFA;CPLX1;LETM1;PIGG;NSD2	https://raresource.nih.gov/literature/disease/0007896	0007896	194190	280	C1956097	C536740		C-terminal binding protein 1;negative elongation factor complex member A;complexin 1;leucine zipper and EF-hand containing transmembrane protein 1;phosphatidylinositol glycan anchor biosynthesis class G;nuclear receptor binding SET domain protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolf-Hirschhorn syndrome"	0	0	702
Wolfram syndrome	diabetes insipidus and mellitus with optic atrophy and deafness//didmoad//didmoad - diabetes insipidus, diabetes mellitus, optic atrophy and deafness//didmoad syndrome//didmoadud//diabetes insipidus, diabetes mellitus, optic atrophy, and deafness//diabetes insipidus - diabetes mellitus - optic atrophy - deafness//diabetes insipidus, diabetes mellitus, optic atrophy and deafness//diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome//diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome//marquardt-loriaux syndrome//syndrome, wolfram//wfs//wfs1//wfs1 wolfram syndrome//wolfram syndrome 1; wfs1//wolfram syndrome 1//wolfram syndrome caused by mutation in wfs1//wolfram syndrome type 1//diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome//diabetes mellitus and insipidus with optic atrophy and deafness	CISD2;WFS1	CISD2;WFS1	https://raresource.nih.gov/literature/disease/0007898	0007898	222300	3463	C0043207	D014929		CDGSH iron sulfur domain 2;wolframin ER transmembrane glycoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolfram syndrome"	0	0	781
Wolman disease	acid cholesteryl ester hydrolase deficiency, wolman type//acid lipase deficiency//acid cholesteryl ester hydrolase deficiency, type 2//acid esterase deficiency//acid lipase disease//cesd//cholesterol ester hydrolase deficiency//cholesteryl ester storage disease//disease, wolman//disease, wolman's//familial xanthomatoses//familial xanthomatosis//lal (lysosomal acid lipase) deficiency//lal deficiency//lald - lysosomal acid lipase deficiency//lipa deficiency//liposomal acid lipase deficiency, wolman type//wolman xanthomatosis//wolman's disease//wolman's xanthomatosis//wolman's or triglyceride storage type iii disease//wolmans disease//xanthomatoses, familial//xanthomatosis, familial//xanthomatosis, wolman//xanthomatosis, wolman's//xanthomatosis, wolmans//deficiency of cholesterol esterase and triacylglycerol lipase//familial visceral xanthomatosis//lysosomal acid lipase deficiency//primary familial xanthomatosis//primary familial xanthomatosis with adrenal calcification	LIPA	LIPA	https://raresource.nih.gov/literature/disease/0007899	0007899	278000	75233	C0043208	D015223		lipase A, lysosomal acid type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wolman disease"	0	0	579
Recessive X-linked ichthyosis	arylsulfatase c deficiency//deficiencies, steroid sulfatase//deficiency of steryl-sulfatase//deficiency, steroid sulfatase//disorder involving deficiency of steryl-sulfatase (ec 3.1.6.2)//ichthyosis, x-linked, complicated//ichthyoses, sex-linked//ichthyoses, x-linked//ichthyosis, sex linked//ichthyosis, sex-linked//ichthyosis, x linked//ichthyosis, x-linked//placental steroid sulfatase deficiency//rxli//ssd//ssdd//steroid sulfatase deficiency//steroid sulfatase deficiency disease//sts deficiency//sex-linked ichthyosis//steroid sulfatase deficiencies//steryl-sulfate sulfohydrolase deficiency//sulfatase deficiencies, steroid//sulfatase deficiency, steroid//x linked ichthyosis//x-linked ichthyosis//x-linked ichthyosis syndrome//x-linked ichthyosis with steryl-sulfatase deficiency//x-linked ichthyosis with steryl-sulphatase deficiency//x-linked inherited ichthyosis syndromic form//x-linked placental steryl-sulphatase deficiency//x-linked recessive ichthyosis//xli//ichthyosis (disease), x-linked//ichthyosis, x-linked; xli//inherited ichthyosis syndromic form, x-linked//recessive x-linked ichthyosis	STS	STS	https://raresource.nih.gov/literature/disease/0007904	0007904	300001	461	C2717836	D016114		steroid sulfatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recessive X-linked ichthyosis"	0	0	2242
Xeroderma pigmentosum	ddb2-related xeroderma pigmentosum//ercc2 xeroderma pigmentosum//ercc3 xeroderma pigmentosum//ercc3-related xeroderma pigmentosum//ercc4 xeroderma pigmentosum//kaposi disease//kaposi dermatosis//kaposi's disease//kaposis disease//xeroderma pigmentosum b/cockayne syndrome//xeroderma pigmentosum i//xeroderma pigmentosum iii//xeroderma pigmentosum iv//xeroderma pigmentosum v//xeroderma pigmentosum vi//xeroderma pigmentosum, type f/cockayne syndrome//xp//xp - xeroderma pigmentosum//xp group a//xp group b//xp group c//xp group d//xp group e//xp group f//xp group h//xp, group a//xp, group b//xp, group c//xp, group d//xp, group e//xp, group f//xp, group h, formerly//xp, group h//xp-a//xp-b//xp-c//xp-d//xp-e//xp-f//xp1//xp3//xp4//xp4 xeroderma pigmentosum viii, formerly//xp4 xeroderma pigmentosum viii//xp5//xp6//xp8//xp8, formerly//xpa//xpa xeroderma pigmentosum//xpb//xpb/cs//xpbc//xpc//xpc-related xeroderma pigmentosum//xpcc//xpd//xpdc//xpe//xpf//xpf/cs//xph//xph, formerly//xeroderma pigmentosum, group b//xeroderma pigmentosa//xeroderma pigmentosum, complementation group a//xeroderma pigmentosum, complementation group c//xeroderma pigmentosum, complementation group e//xeroderma pigmentosum, complementation group e, ddb-negative form//xeroderma pigmentosum, group a//xeroderma pigmentosum, group c//xeroderma pigmentosum, group e//xeroderma pigmentosum, type 1//angioma pigmentosum atrophicum//atrophoderma pigmentosum//melanosis lenticularis progressiva//pigmented epitheliomatosis//xeroderma of kaposi//xeroderma pigmentosum//xeroderma pigmentosum 1//xeroderma pigmentosum 3//xeroderma pigmentosum 4//xeroderma pigmentosum 5//xeroderma pigmentosum 6//xeroderma pigmentosum viii//xeroderma pigmentosum caused by mutation in ercc2//xeroderma pigmentosum caused by mutation in ercc3//xeroderma pigmentosum caused by mutation in ercc4//xeroderma pigmentosum caused by mutation in xpa//xeroderma pigmentosum complementation group a//xeroderma pigmentosum group a//xeroderma pigmentosum group b//xeroderma pigmentosum group c//xeroderma pigmentosum group d//xeroderma pigmentosum group e//xeroderma pigmentosum group f//xeroderma pigmentosum group type a//xeroderma pigmentosum group type b//xeroderma pigmentosum group type c//xeroderma pigmentosum group type d//xeroderma pigmentosum group type e//xeroderma pigmentosum group type f//xeroderma pigmentosum syndrome//xeroderma pigmentosum, complementation group a; xpa//xeroderma pigmentosum, complementation group b//xeroderma pigmentosum, complementation group b; xpb//xeroderma pigmentosum, complementation group c; xpc//xeroderma pigmentosum, complementation group d//xeroderma pigmentosum, complementation group d; xpd//xeroderma pigmentosum, complementation group f//xeroderma pigmentosum, complementation group f; xpf//xeroderma pigmentosum, complementation group type b//xeroderma pigmentosum, complementation group type c//xeroderma pigmentosum, complementation group type d//xeroderma pigmentosum, complementation group type e//xeroderma pigmentosum, complementation group type f//xeroderma pigmentosum, complementation group type a//xeroderma pigmentosum, type 2//xeroderma pigmentosum, type 3//xeroderma pigmentosum, type 5//xeroderma pigmentosum, type 6	ERCC3;ERCC5;XPA;XPC;ERCC2;DDB2;ERCC4	ERCC3;ERCC5;XPA;XPC;ERCC2;DDB2;ERCC4	https://raresource.nih.gov/literature/disease/0007910	0007910	278730	910	C0043346	D014983		ERCC excision repair 3, TFIIH core complex helicase subunit;ERCC excision repair 5, endonuclease;XPA, DNA damage recognition and repair factor;XPC complex subunit, DNA damage recognition and repair factor;ERCC excision repair 2, TFIIH core complex helicase subunit;damage specific DNA binding protein 2;ERCC excision repair 4, endonuclease catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Xeroderma pigmentosum"	0	0	4423
Zellweger syndrome	cerebrohepatorenal syndrome//cg1//cge//chr//cerebro hepato renal syndrome//cerebro-hepato-renal syndrome//pbd, zss//pbd1a//peroxisome biogenesis disorder, complementation group 1//peroxisome biogenesis disorder, complementation group e//peroxisome biogenesis disorders, zellweger syndrome spectrum//severe pbd-zsd//severe peroxisome biogenesis disorder-zellweger spectrum disorder//spectrum, zellweger//zs//zws//zellweger disease//zellweger like syndrome//zellweger spectrum//zellweger syndrome spectrum//zellweger leukodystrophy//zellweger spectrum disorders//zellweger's syndrome//zellweger-like syndrome//congenital iron overload//peroxisome biogenesis disorder//peroxisome biogenesis disorder 1a (zellweger)//peroxisome biogenesis disorder 1a (zellweger); pbd1a	PEX11B;PEX13;PEX26;PEX1;PEX5;PEX12;PEX10;PEX14;PEX16;PEX2;PEX19;PEX6;PEX3	PEX11B;PEX13;PEX26;PEX1;PEX5;PEX12;PEX10;PEX14;PEX16;PEX2;PEX19;PEX6;PEX3	https://raresource.nih.gov/literature/disease/0007917	0007917	614870	912	C0043459	D015211		peroxisomal biogenesis factor 11 beta;peroxisomal biogenesis factor 13;peroxisomal biogenesis factor 26;peroxisomal biogenesis factor 1;peroxisomal biogenesis factor 5;peroxisomal biogenesis factor 12;peroxisomal biogenesis factor 10;peroxisomal biogenesis factor 14;peroxisomal biogenesis factor 16;peroxisomal biogenesis factor 2;peroxisomal biogenesis factor 19;peroxisomal biogenesis factor 6;peroxisomal biogenesis factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Zellweger syndrome"	0	0	1195
Achondroplasia	ach//achondroplasia, severe, with developmental delay and acanthosis nigricans//achondroplasias//achondroplastic dwarf//achondroplastic dwarfism//achondroplastic physique//chondrodystrophia//chondrodystrophia fetalis//congenital osteosclerosis//dwarf, achondroplastic//dysplasia, saddan//dysplasias, saddan//osteosclerosis congenita//saddan//saddan dysplasia//saddan dysplasias//saddans//severe achondroplasia with developmental delay and acanthosis nigricans//skeleton skin brain syndrome//skeleton-skin-brain syndrome//skeleton-skin-brain syndromes//syndrome, skeleton-skin-brain//syndromes, skeleton-skin-brain//achondroplasia//achondroplasia; ach	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"	0	0	2200
Hypotrichosis 7	ah//arwh2//alopecia universalis congenita, mari type//hypotrichosis, autosomal recessive//hypotrichosis, localized, autosomal recessive 2//hypotrichosis, total, mari type//hypt7//hypotrichosis//hypotrichosis, localized, autosomal recessive, 2//lah2//liph hypotrichosis//mari type alopecia universalis congenita//total hypotrichosis, mari type//wh/ht//woolly hair, autosomal recessive 2, with or without hypotrichosis//autosomal recessive//autosomal recessive 2//hypotrichosis 7//hypotrichosis 7; hypt7//hypotrichosis caused by mutation in liph//hypotrichosis type 7//localized//mari type//total//total mari type hypotrichosis,	LIPH	LIPH	https://raresource.nih.gov/literature/disease/0008178	0008178			C1836672			lipase H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis 7"	0	0	15214
Proximal symphalangism	cushing symphalangism//cushing type//cushing's symphalangism//hereditary absence of the proximal interphalangeal joints//hereditary absence of proximal interphalangeal joints//proximal symphalangism (disease)//sym1//sym1a//strasburger-hawkins-eldridge syndrome//strasburger-hawkins-eldridge-hargrave-mckusick syndrome//symphalangism//symphalangism, cushing type//symphalangism, proximal//symphalangism, proximal, 1a (subtype)//symphalangism, proximal, 1b (subtype)//vessel's syndrome//vessel’s syndrome//proximal symphalangism//proximal symphalangism 1a//symphalangism, proximal, 1a//symphalangism, proximal, 1a; sym1a//symphalangism, proximal, type 1a	GDF5;NOG	GDF5;NOG	https://raresource.nih.gov/literature/disease/0008182	0008182	615298	3250	C1861385	C536223		growth differentiation factor 5;noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal symphalangism"	0	0	181
Smith-Magenis syndrome	17p11.2 monosomy//17p11.2 microdeletion//17p11.2 microdeletion syndrome//chromosome 17p11.2 deletion syndrome//smcr//smith-magenis syndrome chromosome region//smith-magenis syndrome; sms//sms//smith magenis syndrome//smith-magenis chromosome region//syndrome, smith-magenis	DEAF1;IQSEC2;RAI1;FLII	DEAF1;IQSEC2;RAI1;FLII	https://raresource.nih.gov/literature/disease/0008197	0008197	182290	819	C0795864	D058496		DEAF1 transcription factor;IQ motif and Sec7 domain ArfGEF 2;retinoic acid induced 1;FLII actin remodeling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-Magenis syndrome"	0	0	715
Omenn syndrome	combined immunodeficiency with hypereosinophilia//reticuloendotheliosis, familial, with eosinophilia//reticuloendotheliosis familial with eosinophilia//severe combined immunodeficiency with hypereosinophilia	RAG1;DCLRE1C;RAG2;RMRP;ADA;LIG4;IL7R;IL2RG;CHD7	RAG1;DCLRE1C;RAG2;RMRP;ADA;LIG4;IL7R;IL2RG;CHD7	https://raresource.nih.gov/literature/disease/0008198	0008198	603554	39041	C2700553			recombination activating 1;DNA cross-link repair 1C;recombination activating 2;RNA component of mitochondrial RNA processing endoribonuclease;adenosine deaminase;DNA ligase 4;interleukin 7 receptor;interleukin 2 receptor subunit gamma;chromodomain helicase DNA binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Omenn syndrome"	0	0	249
Lafora disease	epilepsy, progressive myoclonic, 2a//epilepsy, progressive myoclonic, 2b//epm2//epm2a//epm2a-related lafora disease//epm2b//epilepsy progressive myoclonic 2//epilepsy progressive myoclonic 2//epilepsy, progressive myoclonic 2a//epilepsy, progressive myoclonic, lafora//lafora body disease//lafora disease//lbd//lafora body disease, late onset//lafora body disorder//lafora myoclonic epilepsy//lafora progressive myoclonic epilepsy//lafora progressive myoclonus epilepsy//lafora type progressive myoclonic epilepsy//lafora's disease//lafora-body disease, late onset//late onset lafora body disease//melf//myoclonic epilepsy of lafora//nhlrc1-related lafora disease//pme type 2//progressive myoclonic epilepsy type 2//progressive myoclonic epilepsy, lafora//progressive myoclonic epilepsy, lafora type//progressive myoclonus epilepsy, lafora type//progressive myoclonus epilepsy type 2	NHLRC1;EPM2A	NHLRC1;EPM2A	https://raresource.nih.gov/literature/disease/0008214	0008214	254780	501	C0751783	D020192		NHL repeat containing E3 ubiquitin protein ligase 1;EPM2A glucan phosphatase, laforin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lafora disease"	0	0	1743
Chronic myelomonocytic leukemia	cmml//cmml with eosinophilia//cmml-1//cmml-2//chronic myelomonocytic leukemia//chronic myelomonocytic leukemias//chronic monocytic leukemia//chronic myelomonocytic leukaemia//leukemia, chronic myelomonocytic//leukemia, myelomonocytic, chronic//leukemias, chronic myelomonocytic//myelomonocytic leukemia, chronic//myelomonocytic leukemias, chronic//chronic myelomonocytic leukemia (cmml)	ETV6;ASXL1;SRSF2;PDGFRB	ETV6;ASXL1;SRSF2;PDGFRB	https://raresource.nih.gov/literature/disease/0008225	0008225		98823	C0023480	D015477		ETS variant transcription factor 6;ASXL transcriptional regulator 1;serine and arginine rich splicing factor 2;platelet derived growth factor receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic myelomonocytic leukemia"	0	0	2633
Choroid plexus carcinoma	cpc//cancer of choroid plexus//cancer of the choroid plexus//choroid plexus cancer//choroid plexus papilloma, anaplastic//choroid plexus papilloma, malignant//anaplastic choroid plexus papilloma//carcinoma of choroid plexus//carcinoma of the choroid plexus//carcinoma, choroid plexus, malignant//choroid plexus carcinoma//choroid plexus carcinoma (morphologic abnormality)//malignant neoplasm of choroid plexus//malignant neoplasm of the choroid plexus//malignant tumor of choroid plexus	TP53	TP53	https://raresource.nih.gov/literature/disease/0008238	0008238	260500	251899	C0431109			tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Choroid plexus carcinoma"	0	0	668
Sea-blue histiocytosis	'sea blue' histiocytes//disease, sea-blue histiocyte//diseases, sea-blue histiocyte//histiocytosis, sea-blue//histiocyte disease, sea-blue//histiocyte diseases, sea-blue//histiocyte syndrome, sea blue//histiocyte syndrome, sea-blue//histiocyte syndromes, sea blue//histiocyte syndromes, sea-blue//histiocytoses, sea blue//histiocytoses, sea-blue//histiocytosis, sea blue//inherited lipemic splenomegaly//sea-blue histiocytosis//sea-blue histiocyte disease//sea blue histiocyte disease//sea blue histiocyte syndrome//sea blue histiocytoses//sea blue histiocytosis//sea-blue histiocyte diseases//sea-blue histiocyte syndrome//sea-blue histiocyte syndromes//sea-blue histiocytoses//sea-blue histiocyte//syndrome, sea-blue histiocyte//syndromes, sea-blue histiocyte	APOE	APOE	https://raresource.nih.gov/literature/disease/0008241	0008241	269600	158029	C0036489			apolipoprotein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sea-blue histiocytosis"	0	0	113
Acquired idiopathic sideroblastic anemia	aisa//primary acquired sideroblastic anemia//pyridoxine refractory sideroblastic anemia//rars//refractory anemia with ringed sideroblasts//sidba2//sideroblastic anemia pyridoxine-refractory autosomal recessive//anemia, sideroblastic, 2, pyridoxine-refractory//anemia, sideroblastic, 2, pyridoxine-refractory; sidba2//anemia, sideroblastic, pyridoxine-refractory, autosomal recessive//autosomal recessive pyridoxine-refractory sideroblastic anaemia 2//pyridoxine-refractory autosomal recessive sideroblastic anaemia//pyridoxine-refractory autosomal recessive sideroblastic anemia	TET2;SF3B1	TET2;SF3B1	https://raresource.nih.gov/literature/disease/0008249	0008249		75564	C1264195			tet methylcytosine dioxygenase 2;splicing factor 3b subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acquired idiopathic sideroblastic anemia"	0	0	280
Keratolytic winter erythema	erythrokeratolysis hiemalis//erythrokeratolysis hiemalis ichthyosis//kwe//oudtshoorn skin disease//oudtshoorn disease//oudtshoorn skin//winter erythrokeratolysis//keratolytic winter erythema; kwe//keratolytic winter erythema	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"	0	0	19
Diamond-blackfan anemia 2	anemia diamond-blackfan 2//anemia, diamond-blackfan, 2//dba2//diamond-blackfan anemia 2//diamond-blackfan anemia, 2//diamond-blackfan anemia 2; dba2	DBA2	DBA2	https://raresource.nih.gov/literature/disease/0008283	0008283			C1853666			Diamond-Blackfan anemia 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-blackfan anemia 2"	0	0	None
Isolated complex III deficiency	bcs1l mitochondrial complex iii deficiency//complex 3 mitochondrial respiratory chain deficiency//isolated coq-cytochrome c reductase deficiency//isolated coenzyme q-cytochrome c reductase deficiency//isolated mitochondrial respiratory chain complex iii deficiency//isolated ubiquinone-cytochrome c reductase deficiency//mc3dn1//mitochondrial complex iii deficiency//mitochondrial complex 3 deficiency, nuclear type 1//mitochondrial complex iii deficiency caused by mutation in bcs1l//mitochondrial complex iii deficiency, nuclear type 1//mitochondrial complex iii deficiency, nuclear type 1; mc3dn1	UQCC3;CYC1;UQCRQ;LYRM7;TTC19;UQCRFS1;UQCC2;UQCRC2;BCS1L;UQCRB	UQCC3;CYC1;UQCRQ;LYRM7;TTC19;UQCRFS1;UQCC2;UQCRC2;BCS1L;UQCRB	https://raresource.nih.gov/literature/disease/0008295	0008295	615824	1460				ubiquinol-cytochrome c reductase complex assembly factor 3;cytochrome c1;ubiquinol-cytochrome c reductase complex III subunit VII;LYR motif containing 7;tetratricopeptide repeat domain 19;ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1;ubiquinol-cytochrome c reductase complex assembly factor 2;ubiquinol-cytochrome c reductase core protein 2;BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone;ubiquinol-cytochrome c reductase binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated complex III deficiency"	0	0	306
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	absence of tibia with polydactyly//absent tibia-polydactyly syndrome//hypoplastic tibia-polydactyly syndrome//polydactyly with absent tibia//thyp//tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia//tibia, absence of, with polydactyly//werner mesomelic spectrum//werner mesomelic syndrome//hypoplastic tibiae-postaxial polydactyly syndrome//tibia, hypoplasia or aplasia of, with polydactyly//tibia, hypoplasia or aplasia of, with polydactyly; thyp//tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	LMBR1;SHH	LMBR1;SHH	https://raresource.nih.gov/literature/disease/0008309	0008309	188740	988	C1861099	C535564		limb development membrane protein 1;sonic hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"	0	0	6
Pseudo-von Willebrand disease	bdplt3//bleeding disorder, platelet-type, 3//pt-vwd//platelet type-von willebrand disease//platelet-type von willebrand disease//pseudo-von willebrand disease//pseudo-von willebrand disease type 2b//von willebrand disease, platelet-type//vwdp//von willebrand disease, platelet type//platelet-type bleeding disorder 3//pseudo-von willebrand disease; vwdp//von willebrand disease platelet-type	GP1BA	GP1BA	https://raresource.nih.gov/literature/disease/0008312	0008312	177820	52530	C1280798			glycoprotein Ib platelet subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudo-von Willebrand disease"	0	0	1425
Atelosteogenesis type II	ao2//aoii//atelosteogenesis de la chapelle type//atelosteogenesis ii//atelosteogenesis type 2//atelosteogenesis, type 2//atelosteogenesis, type ii//de la chapelle dysplasia//dlcd//de 50a chapelle dysplasia//mcalister dysplasia//neonatal osseous dysplasia i//neonatal osseous dysplasia 1//neonatal osseous dysplasia type 1//atelosteogenesis type ii//atelosteogenesis, type ii; ao2	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"	0	0	42
Mohr-Tranebjaerg syndrome	ddon syndrome//ddp//dds//deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency//deafness-dystonia-optic atrophy syndrome//dystonia-deafness syndrome//deafness (dfn-1) dystonia, mental deficiency and blindness//deafness - dystonia - optic neuronopathy syndrome//deafness dystonia optic atrophy syndrome//deafness dystonia optic neuronopathy syndrome//deafness dystonia syndrome//deafness-dystonia syndrome//deafness-dystonia-optic neuronopathy syndrome//deafness-dystonia-optic neuronopathy (ddon) syndrome//dystonia deafness syndrome//hearing loss-dystonia-optic neuronopathy syndrome//jensen syndrome//mohr-tranebjaerg syndrome; mts//mts//mohr-tranebjã¦rg syndrome//mohr-tranebjærg syndrome//nerve deafness optic nerve atrophy, and dementia//opticoacoustic nerve atrophy with dementia//opticoacustic nerve atrophy with dementia//syndrome of opticoacoustic nerve atrophy with dementia//deafness dystonia optic neuronopathy syndrome (ddon)	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[]=Mohr-Tranebjaerg syndrome"	0	0	1543
Athabaskan brainstem dysgenesis syndrome	abds//absd//athabascan brainstem dysgenesis syndrome//athabaskan brainstem dysgenesis//athabaskan brainstem dysgenesis syndrome//athabaskan brainstem dysgenesis syndrome; abds//bosley-salih-alorainy syndrome//bsas//bosley salih alorainy syndrome//hoxa1-related disorders//human hoxa1 syndromes//navajo brainstem syndrome	HOXA1	HOXA1	https://raresource.nih.gov/literature/disease/0008333	0008333	601536	69739	C1832215	C535397		homeobox A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Athabaskan brainstem dysgenesis syndrome"	0	0	63
Amish nemaline myopathy	amish nemaline myopathy//anm//nem5//nemaline myopathy, amish type//nemaline myopathy 5, amish type//nemaline myopathy, caused by mutation in the troponin t1 gene//tnnt1 nemaline myopathy//nemaline myopathy 5//nemaline myopathy 5; nem5//nemaline myopathy caused by mutation in tnnt1//nemaline myopathy type 5	TNNT1	TNNT1	https://raresource.nih.gov/literature/disease/0008334	0008334	605355	98902				troponin T1, slow skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amish nemaline myopathy"	0	0	56
Marinesco-Sjögren syndrome	garland moorhouse syndrome//garland-moorhouse syndrome//hereditary oligophrenic cerebello lental degeneration//hypogonadism, marinesco-sjogren syndrome-hypergonadotrophic//mss//marinesco garland syndrome//marinesco sjogren garland syndrome//marinesco sjogren syndrome//marinesco sjogren syndrome hypergonadotrophic hypogonadism//marinesco sjogren syndrome myopathy//marinesco sjögren syndrome//marinesco-garland syndrome//marinesco-sjogren syndrome//marinesco-sjogren syndrome-hypergonadotrophic hypogonadism//marinesco-sjogren syndrome-myopathy//marinesco-sjogren syndrome; mss//marinesco-sjogren-garland syndrome//oligophrenic cerebellolenticular degeneration//syndrome, garland-moorhouse//syndrome, marinesco-garland//syndrome, marinesco-sjogren//syndrome, marinesco-sjogren-garland//syndrome, marinesco-sjögren//syndrome-hypergonadotrophic hypogonadism, marinesco-sjogren//syndrome-myopathy, marinesco-sjogren//hereditary oligophrenic cerebello-lental degeneration	SIL1;INPP5K	SIL1;INPP5K	https://raresource.nih.gov/literature/disease/0008341	0008341	248800	559	C0024814			SIL1 nucleotide exchange factor;inositol polyphosphate-5-phosphatase K	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Marinesco-Sjögren syndrome"	0	0	633
ABri amyloidosis	bri amyloidosis//british type//cerebral amyloid angiopathy, british type//cerebral amyloid angiopathy, itm2b-related, 1//dementia, familial british//dementia familial british//fbd//familial british dementia//familial dementia//familial dementia, british type//itm2b-related cerebral amyloid angiopathy 1//presenile dementia with spastic ataxia//cerebral amyloid angiopathy, itm2b-related, type 1	ITM2B	ITM2B	https://raresource.nih.gov/literature/disease/0008344	0008344	176500	97345	C1867773	C538208		integral membrane protein 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ABri amyloidosis"	0	0	380
Quebec platelet disorder	bdplt5//bleeding disorder, platelet-type, 5//factor v quebec//qpd//quebec platelet disorder; qpd//factor 5 quebec//platelet-type bleeding disorder 5	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"	0	0	39
Hypomaturation amelogenesis imperfecta	aih//amelogenesis imperfecta - hypomaturation//amelogenesis imperfecta hypomaturation type//amelogenesis imperfecta type 2//amelogenesis imperfecta, hypomaturation type//hypomaturation amelogenesis imperfecta	SLC24A4;MMP20;KLK4;AMELX;GPR68;WDR72;ODAPH	SLC24A4;MMP20;KLK4;AMELX;GPR68;WDR72;ODAPH	https://raresource.nih.gov/literature/disease/0008349	0008349	615887	100033	C0399372	C536606		solute carrier family 24 member 4;matrix metallopeptidase 20;kallikrein related peptidase 4;amelogenin X-linked;G protein-coupled receptor 68;WD repeat domain 72;odontogenesis associated phosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomaturation amelogenesis imperfecta"	0	0	2924
Autosomal recessive Kenny-Caffey syndrome	kcs//kcs1//kenny-caffey syndrome, autosomal recessive//kenny caffey syndrome//kenny syndrome//kenny-caffey syndrome type 1//kenny-caffey syndrome, autosomal recessive form//kenny-caffey syndrome, type 1//kenny-caffey syndrome, type 1; kcs1//autosomal recessive kenny-caffey syndrome	TBCE	TBCE	https://raresource.nih.gov/literature/disease/0008367	0008367	244460	93324	C1855648			tubulin folding cofactor E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive Kenny-Caffey syndrome"	0	0	486
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	cox deficiency, french canadian type//cox deficiency, saguenay-lac-saint-jean type//cox deficiency//cox deficiency, french-canadian type//cytochrome c oxidase deficiency, french canadian type//cox deficiency, saguenay-lac saint-jean type//cox deficiency, saguenay lac saint jean type//cytochrome c oxidase deficiency, french-canadian type//cytochrome c oxidase deficiency//cytochrome oxidase deficiency//cytochrome oxidase deficiency, saguenay-lac-saint-jean type//french-canadian type//leigh syndrome, french canadian type//leigh syndrome, saguenay-lac-saint-jean type//lsfc//leigh syndrome, french-canadian type//leigh syndrome, saguenay-lac saint-jean type//leigh syndrome//leigh syndrome, french canadian type; lsfc//leigh syndrome, saguenay lac saint jean type//mc4dn5//slsj-cox deficiency//saguenay-lac-saint-jean type//congenital lactic acidosis, saguenay-lac-saint-jean type	LRPPRC	LRPPRC	https://raresource.nih.gov/literature/disease/0008370	0008370	220111	70472	C1857355			leucine rich pentatricopeptide repeat containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	0	0	1631
Autosomal recessive polycystic kidney disease	ar polycystic kidney disease//ar-pkd//arpkd//arpkd - autosomal recessive polycystic kidney disease//autosomal recessive polycystic kidney//autosomal recessive polycystic kidney disease//autosomal recessive infantile polycystic kidney disease//hepatic fibrosis, congenital//ipkd - infantile polycystic kidney disease//infantile polycystic kidney disease//kidney, polycystic, autosomal recessive//pkd3, formerly//pkd4//pkhd1//polycystic kidney and hepatic disease 1//polycystic kidney disease 4 with or without hepatic disease//polycystic kidney disease 4 with or without polycystic liver disease//polycystic kidney disease, autosomal recessive//polycystic kidney disease, infantile, type i//polycystic kidney disease, infantile, type 1//polycystic kidney and hepatic disease 1 (autosomal recessive)//polycystic kidney, autosomal recessive//polycystic kidney disease, infantile type//polycystic kidney disease 4//polycystic kidney disease 4 with or without polycystic liver disease; pkd4//polycystic kidney disease, autosomal recessive; arpkd	DZIP1L;PKHD1	DZIP1L;PKHD1	https://raresource.nih.gov/literature/disease/0008378	0008378	263200	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"	0	0	887
Generalized arterial calcification of infancy	abcc6 arterial calcification of infancy//arterial calcification, idiopathic infantile//arteriopathy, occlusive infantile//arterial calcification, generalized, of infancy//arterial calcification of infancy//coronary sclerosis, medial, of infancy//enpp1 arterial calcification of infancy//gaci//gaci1//gaci2//generalized arterial calcification in infancy//idiopathic infantile arterial calcification//iiac//idiopathic obliterative arteriopathy//infantile arteriosclerosis//occlusive infantile arteriopathy//arterial calcification of infancy caused by mutation in abcc6//arterial calcification of infancy caused by mutation in enpp1//arterial calcification, generalized, of infancy, 1//arterial calcification, generalized, of infancy, 1; gaci1//arterial calcification, generalized, of infancy, 2//arterial calcification, generalized, of infancy, 2; gaci2//arterial calcification, generalized, of infancy, type 1//arterial calcification, generalized, of infancy, type 2//generalized arterial calcification of infancy//generalized arterial calcification of infancy 1	ABCC6;ENPP1	ABCC6;ENPP1	https://raresource.nih.gov/literature/disease/0008380	0008380	208000	51608	C0264955	C537440		ATP binding cassette subfamily C member 6;ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized arterial calcification of infancy"	0	0	196
3-hydroxy-3-methylglutaric aciduria	3-hydroxy 3-methyl glutaric aciduria//3-hydroxy-3-methylglutaric aciduria//3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency//3-hydroxyl 3-methyl glutaric aciduria//3-oh 3-methyl glutaric aciduria//3-hydroxy-3-methylglutaryl-coa lyase deficiency//3-hydroxy-3-methylglutaryl-coa lyase deficiency; hmgcld//defect in leucine metabolism//deficiency of hydroxymethylglutaryl-coa lyase//hl deficiency//hmg coa lyase deficiency//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	C1533587			3-hydroxy-3-methylglutaryl-CoA lyase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-hydroxy-3-methylglutaric aciduria"	0	0	203
Ornithine transcarbamylase deficiency	deficiencies, otc//deficiencies, ornithine transcarbamylase//deficiency disease, ornithine carbamoyltransferase//deficiency disease, ornithine transcarbamylase//deficiency of ornithine carbamoyltransferase//deficiency of ornithine transcarbamylase//deficiency, otc//deficiency, ornithine transcarbamylase//oct - ornithine carbamoyltransferase deficiency//oct deficiency//octd//ornithine carbamoyltransferase deficiency//ornithine transcarbamylase deficiency, hyperammonemia due to//otc - ornithine transcarbamylase deficiency//otc deficiency//otc deficiencies//otcd//ornithine carbamoyltransferase deficiency disease//ornithine transcarbamylase deficiencies//ornithine transcarbamylase deficiency//ornithine transcarbamylase deficiency disease//ornithine transcarbamoylase deficiency//deficiency of citrulline phosphorylase//valproate sensitivity	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 transcarbamylase deficiency"	0	0	939
Brain demyelination due to methionine adenosyltransferase deficiency	hypermethioninemia, isolated persistent//mat deficiency//mat i/iii deficiency//methionine adenosyltransferase deficiency//brain demyelination due to methionine adenosyltransferase deficiency//isolated persistent hypermethioninemia//methionine adenosyltransferase i/iii deficiency	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[]=Brain demyelination due to methionine adenosyltransferase deficiency"	0	0	52
Postaxial acrofacial dysostosis	acrofacial dysostosis//acrofacial dysostosis, genee-wiedemann type//genee-wiedemann syndrome//gwafd//genee-wiedemann acrofacial dysostosis//genee-wiedemann type//miller syndrome//mandibulfacial dysostosis with postaxial limb anomalies//mandibulofacial dysostosis with postaxial limb anomalies//poads//poads syndrome//postaxial acrofacial dysostosis//postaxial acrofacial dysostosis (poads)//postaxial acrodysostosis//postaxial acrofacial dysostosis (poads) syndrome//postaxial acrofacial dysostosis syndrome//wildervanck-smith syndrome//acrofacial dysostosis, genee-wiedmann type//postaxial acrofacial dysostosis; poads	DHODH	DHODH	https://raresource.nih.gov/literature/disease/0008410	0008410	263750	246	C0265257			dihydroorotate dehydrogenase (quinone)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postaxial acrofacial dysostosis"	0	0	112
Van der Woude syndrome	cleft lip and/or palate with mucous cysts of lower lip//cleft lip and-or palate with mucous cysts of lower lip//cleft lip/palate with mucous cysts of lower lip//irf6 van der woude syndrome//lip-pit syndrome//lps//lip pit syndrome//lip-pit-cleft lip syndrome//pit//van der woude syndrome 1; vws1//vdws//vws//vws1//van der woude syndrome type 1//van der woude syndrome//van der woude syndrome 1//van der woude syndrome caused by mutation in irf6	IRF6;GRHL3	IRF6;GRHL3	https://raresource.nih.gov/literature/disease/0008414	0008414	604547	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"	0	0	936
Isolated optic nerve hypoplasia/aplasia	bilateral optic nerve hypoplasia//familial bilateral optic nerve hypoplasia//onh//optic nerve aplasia, bilateral//optic nerve hypoplasia, bilateral//optic nerve hypoplasia, familial bilateral//isolated optic nerve hypoplasia//isolated optic nerve hypoplasia/aplasia	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0008419	0008419	165550	137902	C0338502			paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated optic nerve hypoplasia/aplasia"	0	0	179
Peters plus syndrome	krause-kivlin syndrome//krause-van schooneveld-kivlin syndrome//peters anomaly with short-limb dwarfism//ptrpls//peters anomaly-short limb dwarfism syndrome//peters plus syndrome//peters anomaly with short limb dwarfism//peters' plus syndrome//peters'-plus syndrome//peters-plus syndrome//robinow-like syndrome//saal-greenstein syndrome	B3GLCT	B3GLCT	https://raresource.nih.gov/literature/disease/0008422	0008422	261540	709	C0796012			beta 3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Peters plus syndrome"	0	0	76
Iminoglycinuria	iminoglycinuria	SLC6A19;SLC36A2;SLC6A18;SLC6A20	SLC6A19;SLC36A2;SLC6A18;SLC6A20	https://raresource.nih.gov/literature/disease/0008424	0008424	242600	42062	C0268654	C536285		solute carrier family 6 member 19;solute carrier family 36 member 2;solute carrier family 6 member 18;solute carrier family 6 member 20	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Iminoglycinuria"	0	0	34
Thyroid hypoplasia		TSHR;PAX8;SLC26A4	TSHR;PAX8;SLC26A4	https://raresource.nih.gov/literature/disease/0008426	0008426	218700	95720	C0151516			thyroid stimulating hormone receptor;paired box 8;solute carrier family 26 member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid hypoplasia"	0	0	101
Immunodeficiency by defective expression of MHC class I	bare lymphocyte syndrome, type i//bls type 1//bls, type i//blsi//bare lymphocyte syndrome//bare lymphocyte syndrome type 1//bare lymphocyte syndrome, type 1//bls, type 1//hla class i deficiency//hla class 1 deficiency//immunodeficiency by defective expression of mhc class i//immunodeficiency by defective expression of hla (human leukocyte antigen) class 1//immunodeficiency by defective expression of human leukocyte antigen class 1//immunodeficiency by defective expression of human leukocyte antigen class i//mhc class i deficiency//bare lymphocyte syndrome type i//immunodeficiency by defective expression of hla class 1//immunodeficiency by defective expression of hla class type 1	B2M;TAPBP;TAP2;TAP1	B2M;TAPBP;TAP2;TAP1	https://raresource.nih.gov/literature/disease/0008427	0008427	241600	34592	C1858266			beta-2-microglobulin;TAP binding protein;transporter 2, ATP binding cassette subfamily B member;transporter 1, ATP binding cassette subfamily B member	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency by defective expression of MHC class I"	0	0	181
Native American myopathy	bailey-bloch congenital myopathy//congenital myopathy - cleft palate - malignant hyperthermia//congenital myopathy cleft palate and malignant hyperthermia//congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia//congenital myopathy, cleft palate. malignant hyperthermia syndrome//congenital myopathy-cleft palate-malignant hyperthermia syndrome//myopathy, congenital, bailey-bloch//myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia//mypbb//myopathy, congenital, with cleft palate and malignant hyperthermia//nam//native american myopathy//native american myopathy; nam//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[]=Native American myopathy"	0	0	130
King-Denborough syndrome	anesthetic-induced malignant hyperpyrexia in children//kds//king denborough syndrome//king syndrome//king-denborough syndrome//koussef nichols syndrome//koussef-nichols syndrome//kousseff nichols syndrome//noonan like contracture myopathy hyperpyrexia	RYR1	RYR1	https://raresource.nih.gov/literature/disease/0008433	0008433	145600	99741	C1840365	C536883		ryanodine receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=King-Denborough syndrome"	0	0	73
Persistent Müllerian duct syndrome	female genital ducts in otherwise normal male//hernia uteri inguinale//persistent mullerian duct syndrome, types i and ii//persistent oviduct syndrome//pmds//pseudohermaphroditism, male internal//persistent muellerian duct syndrome//persistent mullerian duct syndrome//persistent mã¼llerian duct syndrome//persistent müllerian derivatives//persistent mullerian duct syndrome, types 1 and 2//persistent mullerian duct syndrome, types i and ii; pmds//persistent mullerian derivatives//persistent müllerian duct syndrome	AMH;AMHR2	AMH;AMHR2	https://raresource.nih.gov/literature/disease/0008435	0008435	261550	2856	C1849930	C536665		anti-Mullerian hormone;anti-Mullerian hormone receptor type 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Persistent Müllerian duct syndrome"	0	0	576
Keutel syndrome	keutel syndrome; ktls//ktls//pulmonic stenosis, brachytelephalangism, and calcification of cartilages//pulmonic stenosis - brachytelephalangism - calcification of cartilages//pulmonic stenosis brachytelephalangism and calcification of cartilages//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"	0	0	51
Tumor necrosis factor receptor 1 associated periodic syndrome	autosomal dominant familial periodic fever//familial hibernian fever//fhf//fpf//hibernian fever, familial//hibernian familial fever//periodic fever, familial, autosomal dominant//tnf receptor-associated periodic syndrome//tnf receptor-associated periodic syndrome (traps)//tnf receptor 1 associated periodic syndrome//tnf receptor 1-associated periodic syndrome//tnf receptor-associated periodic fever syndrome//traps//traps syndrome//tumor necrosis factor receptor-associated periodic syndrome//tumor necrosis factor receptor 1 associated periodic syndrome//tumor necrosis factor receptor 1-associated periodic syndrome	TNFRSF1A	TNFRSF1A	https://raresource.nih.gov/literature/disease/0008457	0008457	142680	32960	C1275126			TNF receptor superfamily member 1A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tumor necrosis factor receptor 1 associated periodic syndrome"	0	0	1276
Autoimmune polyendocrinopathy type 1	aire deficiencies//aire deficiency//aire autoimmune polyendocrinopathy//apeced//apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy//apeced syndrome//apeded//aps 1//aps i//aps type 1//aps1//autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia//autoimmune polyendocrinopathy syndrome, type i, autosomal dominant//autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy//autoimmune polyglandular syndrome, type i//autoimmune polyendocrinopathy candidiasis ectodermal dystrophy//autoimmune polyendocrinopathy syndrome type 1//autoimmune polyendocrinopathy syndrome, type i, with reversible metaphyseal dysplasia//autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy//autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy//autoimmune polyglandular syndrome i//autoimmune polyglandular syndrome type i//autoimmune syndrome type i, polyglandular//autoimmune hypoparathyroidism - chronic candidiasis - addison's disease//autoimmune hypoparathyroidism - chronic candidosis - addison's disease//autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome//autoimmune polyendocrine syndrome type 1//autoimmune polyendocrine syndrome, type 1//autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome//autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome//autoimmune polyendocrinopathy syndrome, type 1//autoimmune polyendocrinopathy syndrome, type i//autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy//autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (apeced)//autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome//autoimmune polyglandular syndrome type 1//blizzard syndrome//candidiasis-endocrinopathy syndrome//deficiency, aire//ham syndrome//hypoadrenocorticism with hypoparathyroidism and superficial moniliasis//hypoadrenocorticism, hypoparathyroidism and superficial moniliasis//hypoparathyroidism - addison's disease - mucocutaneous candidiasis//hypoparathyroidism - addison's disease - mucocutaneous candidosis//hypoparathyroidism, addison's disease and moniliasis//hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome//juvenile familial endocrinopathy//medac syndrome//multiple endocrine deficiency - addison's disease - candidiasis//multiple endocrine deficiency - addison's disease - candidosis//multiple endocrine deficiency-addison disease-candidiasis syndrome//pga 1//pga i//pga-i//polyglandular autoimmune syndrome, type i//polyglandular deficiency syndrome, persian-jewish type//polyendocrinopathy candidiasis ectodermal dystrophy, autoimmune//polyendocrinopathy-candidiasis-ectodermal dystrophy, autoimmune//polyendocrinopathy-candidiasis-ectodermal-dystrophy, autoimmune//polyglandular type i autoimmune syndrome//polyglandular autoimmune syndrome - type 1//polyglandular autoimmune syndrome type 1//polyglandular deficiency associated with mucocutaneous candidiasis//type 1 polyendocrine autoimmunity syndrome//type i polyglandular autoimmune syndrome//whitaker syndrom//whitaker syndrome//autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia; aps1//autoimmune polyendocrinopathy caused by mutation in aire//autoimmune polyendocrinopathy type 1//autoimmune polyglandular syndrome, type 1//autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome//polyglandular autoimmune syndrome, type 1	AIRE	AIRE	https://raresource.nih.gov/literature/disease/0008466	0008466	240300	3453	C3494489	C538275		autoimmune regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune polyendocrinopathy type 1"	0	0	873
Melanoma and neural system tumor syndrome	cutaneous malignant melanoma and cerebral astrocytoma//melanoma and neural system tumor syndrome//melanoma astrocytoma syndrome//melanoma-astrocytoma syndrome	CDKN2A	CDKN2A	https://raresource.nih.gov/literature/disease/0008468	0008468	155755	252206	C1835042			cyclin dependent kinase inhibitor 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Melanoma and neural system tumor syndrome"	0	0	7
X-linked recessive ocular albinism	albinism, ocular, type i//nettleship-falls type ocular albinism//nettleship-falls syndrome//nettleship-falls type//oa1//oa1 - x-linked ocular albinism//ocular albinism, x-linked//ocular albinism//ocular albinism type 1//ocular albinism, nettleship-falls type//ocular albinism, type i//x linked ocular albinism//x-linked ocular albinism//x-linked ocular albinism, nettleship type//xloa//albinism, ocular, type 1//albinism, ocular, type i; oa1	AP3D1;GPR143	AP3D1;GPR143	https://raresource.nih.gov/literature/disease/0008471	0008471	300500	54	C0342684	C537863		adaptor related protein complex 3 subunit delta 1;G protein-coupled receptor 143	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked recessive ocular albinism"	0	0	326
Muckle-Wells syndrome	amyloid nephropathy with deafness and urticaria//caps2//cryopyrin-associated periodic syndrome 2//familial amyloid nephropathy with urticaria and deafness//muckle-wells syndrome//muckle-wells syndrome; mws//mws//muckle wells syndrome//muckle-wells type amyloidosis//neutrophilic urticaria//syndrome, muckle-wells//syndrome, uda//syndrome, urticaria-deafness-amyloidosis//syndromes, uda//syndromes, urticaria-deafness-amyloidosis//uda syndrome//uda syndromes//urticaria-deafness-amyloidosis syndrome//urticaria deafness amyloidosis syndrome//urticaria, deafness and amyloidosis//urticaria-deafness-amyloidosis syndromes	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[]=Muckle-Wells syndrome"	0	0	492
Autosomal recessive cutis laxa type 1	arcl1//autosomal recessive cutis laxa//autosomal recessive cutis laxa with severe systemic involvement//autosomal recessive cutis laxa, pulmonary emphysema type//cutis laxa, autosomal recessive//cutis laxa, autosomal recessive type 1//cutis laxa, type 1//autosomal recessive cutis laxa type 1//autosomal recessive cutis laxa type i//pulmonary emphysema type	LTBP1;EFEMP2;FBLN5	LTBP1;EFEMP2;FBLN5	https://raresource.nih.gov/literature/disease/0008480	0008480	219100	90349	C0432336			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"	0	0	36
Musculocontractural Ehlers-Danlos syndrome	adducted thumb, clubfoot, and progressive joint and skin laxity syndrome//adducted thumb-clubfoot syndrome//arthrogryposis, distal, with peculiar facies and hydronephrosis//atcs//adducted thumb - clubfoot syndrome//adducted thumb clubfoot syndrome//adducted thumbs - arthrogryposis, dundar type//adducted thumbs dundar type//autosomal recessive adducted thumb-club foot syndrome//chst14-related eds//chst14-related ehlers-danlos syndrome//d4st1-deficient eds//d4st1-deficient ehlers-danlos syndrome//dundar syndrome//distal arthrogryposis with peculiar facies and hydronephrosis//dündar syndrome//eds, kosho type//eds, arthrogryposic type//eds, musculocontractural type//eds6b, formerly//edsmc//edsmc1//ehlers-danlos syndrome, type vib, formerly//ehlers-danlos syndrome//ehlers-danlos syndrome, kosho type//ehlers-danlos syndrome, arthrogryposic type//ehlers-danlos syndrome, musculocontractural type//ehlers-danlos syndrome, musculocontractural type 1//ehlers-danlos syndrome, musculocontractural type 1; edsmc1//ehlers-danlos syndrome, musculocontractural type, 1//ehlers-danlos syndrome, musculocontractural type, 1; edsmc1//ehlers-danlos syndrome, type vib//kosho type//mceds//musculocontractural eds//adducted thumb-club foot syndrome//adducted thumbs-arthrogryposis syndrome, dundar type//musculocontractural ehlers-danlos syndrome	CHST14;DSE	CHST14;DSE	https://raresource.nih.gov/literature/disease/0008486	0008486	601776	2953				carbohydrate sulfotransferase 14;dermatan sulfate epimerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Musculocontractural Ehlers-Danlos syndrome"	0	0	3063
Familial papillary or follicular thyroid carcinoma	fnmtc//familial pure nonmedullary thyroid carcinoma//nonmedullary thyroid carcinoma, with or without cell oxyphilia//tco//tco 1//tco1//thyroid carcinoma, nonmedullary, with or without cell oxyphilia	HABP2;MINPP1;FOXE1	HABP2;MINPP1;FOXE1	https://raresource.nih.gov/literature/disease/0008488	0008488	603744	319487				hyaluronan binding protein 2;multiple inositol-polyphosphate phosphatase 1;forkhead box E1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial papillary or follicular thyroid carcinoma"	0	0	152
Meningioma, radiation-induced	mnri//meningioma, radiation induced//radiation induced meningioma//meningioma, radiation-induced//radiation-induced meningioma	MNRI	MNRI	https://raresource.nih.gov/literature/disease/0008491	0008491			C1853554			Meningioma, radiation-induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meningioma, radiation-induced"	0	0	21
White sponge nevus	familial white folded mucosal dysplasia//hereditary mucosal leukokeratoses//hereditary mucosal leukokeratosis//hereditary leukokeratosis of mucosa//hereditary oral keratosis//hereditary white sponge nevus//krt4 hereditary mucosal leukokeratosis//leukokeratosis, hereditary mucosal//leukokeratoses, hereditary mucosal//mucosal leukokeratoses, hereditary//mucosal leukokeratosis, hereditary//white sponge nevus of cannon//white sponge nevus 1; wsn1//wsn//wsn1//white sponge nevus of cannon, krt13-related//white sponge nevus of cannon, krt4-related//white sponge nevus type 1//white sponge nevus of mucosa//hereditary mucosal leukokeratosis caused by mutation in krt4//white sponge nevus//white sponge nevus 1	KRT4;KRT13	KRT4;KRT13	https://raresource.nih.gov/literature/disease/0008501	0008501	193900	171723	C1721005			keratin 4;keratin 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=White sponge nevus"	0	0	156
Classical-like Ehlers-Danlos syndrome type 1	classical-like eds//classical-like eds type 1//classical-like ehlers-danlos syndrome//eds due to tnx deficiency//eds, classic-like type//edscll//ehlers-danlos syndrome due to tenascin-x deficiency//ehlers-danlos syndrome, classic-like//ehlers-danlos syndrome caused by tenascin-x deficiency//ehlers-danlos syndrome classic-like type//ehlers-danlos syndrome, classic-like type//ehlers-danlos syndrome, classic-like; edscll//ehlers-danlos-like syndrome due to tenascin-x deficiency//tnx deficiency//cleds//cleds type 1	TNXB	TNXB	https://raresource.nih.gov/literature/disease/0008507	0008507	606408	230839	C1848029			tenascin XB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classical-like Ehlers-Danlos syndrome type 1"	0	0	24
Huriez syndrome	atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles//hrz//huriez syndrome; hrz//palmoplantar hyperkeratosis-sclerodactyly syndrome//palmoplantar keratoderma-sclerodactyly syndrome//scleroatrophic and keratotic dermatosis of limbs//sclerotylosis//scleroatrophic syndrome	SMARCAD1	SMARCAD1	https://raresource.nih.gov/literature/disease/0008517	0008517	181600	384	C0406767			SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Huriez syndrome"	0	0	1859
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	dandy-walker malformation with intellectual disability, basal ganglia disease and seizures//dandy-walker malformation with mental retardation basal ganglia disease and seizures//dandy-walker malformation with mental retardation, basal ganglia disease, and seizures//fried syndrome//mental retardation, x-linked 59//mental retardation, x-linked, syndromic 21//mental retardation, x-linked, syndromic 5//mental retardation, x-linked, syndromic, fried type//mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures//mrx59//mrxs21//mrxs5//mrxsf//mental retardation x-linked syndromic 5//mental retardation x-linked with dandy-walker malformation basal ganglia disease and seizures//mental retardation, x-linked syndromic 5//mental retardation, x-linked syndromic, fried type//pettigrew syndrome//pettigrew syndrome; pgs//pgs//x-linked dandy-walker malformation with intellectual disability, basal ganglia disease and seizure syndrome//x-linked mental retardation 59//x-linked intellectual disability - dandy-walker malformation - basal ganglia disease - seizures//x-linked intellectual disability 59//x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome//x-linked metal retardation with dandy-walker malformation, basal ganglia disease, and seizures//intellectual disability x-linked syndromic 5//intellectual disability x-linked with dandy-walker malformation basal ganglia disease and seizures//intellectual disability, x-linked 59//intellectual disability, x-linked syndromic 5//intellectual disability, x-linked, syndromic 21//intellectual disability, x-linked, syndromic 5//intellectual disability, x-linked, syndromic, fried type//intellectual disability, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures//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	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[]=X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"	0	0	242
Infantile-onset X-linked spinal muscular atrophy	amc, distal, x-linked//amcx1//arthrogryposis multiplex congenita, distal, x-linked//arthrogryposis, x-linked, type i//smax2//spinal muscular atrophy, infantile x-linked//spinal muscular atrophy, x-linked lethal infantile//spinal muscular atrophy, x-linked 2//spinal muscular atrophy, x-linked infantile//spinal muscular atrophy with arthrogryposis//x-linked distal arthrogryposis multiplex congenita//x-linked infantile spinal muscular atrophy//x-linked spinal muscular atrophy type 2//xlsma//arthrogryposis, x-linked, type 1//infantile-onset x-linked spinal muscular atrophy//spinal muscular atrophy, x-linked 2; smax2//spinal muscular atrophy, x-linked 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"	0	0	11
Diffuse panbronchiolitis	dpb//pblt//panbronchiolitis, diffuse//diffuse panbronchiolitis	MUCL3;MUC5B	MUCL3;MUC5B	https://raresource.nih.gov/literature/disease/0008526	0008526	604809	171700	C0878555	C536174		mucin like 3;mucin 5B, oligomeric mucus/gel-forming	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diffuse panbronchiolitis"	0	0	736
HELLP syndrome	eph - edema, proteinuria and hypertension of pregnancy//eph - oedema, proteinuria and hypertension of pregnancy//eph complex//eph gestosis//eph toxemia//eph toxemias//edema proteinuria hypertension gestosis//edema-proteinuria-hypertension gestosis//gestational hypertension//gestational hypertension (disorder)//gestational proteinuric hypertension//gestosis, eph//gestosis, edema-proteinuria-hypertension//gestosis, hypertension-edema-proteinuria//gestosis, proteinuria-edema-hypertension//hellp//hellp - syndrome of hemolysis, elevated liver enzymes and low platelet//hellp syndrome (disorder)//hellp syndrome (hemolysis, elevated liver enzymes, low platelets)//hemolysis, elevated liver enzymes, and low platelet count//hypertension, pregnancy-induced//hemolysis//hemolysis, elevated liver enzymes, lowered platelets//hemolysis, elevated liver enzymes, low platelets in pregnancy//hemolysis-elevated liver enzymes-low platelets syndrome//hypertension edema proteinuria gestosis//hypertension-edema-proteinuria gestosis//pe - pre-eclampsia//pee//pee1//pet - pre-eclamptic toxaemia//pet - pre-eclamptic toxemia//preeclampsia/eclampsia 1//preeclampsia/eclampsia 1; pee1//preg1//pregn toxemias//pre eclampsia//pre-eclampsia//pre-eclampsia (disorder)//pre-eclampsia nos//pre-eclampsia nos (disorder)//pre-eclampsia, unspecified//pre-eclamptic nos//pre-eclamptic toxemia//pregnancy toxemia//pregnancy toxemias//pregnancy associated hypertension//pregnancy-induced hypertension//pregnancy-induced hypertension (disorder)//proteinuria edema hypertension gestosis//proteinuria-edema-hypertension gestosis//severe pre-eclampsia with hemolysis, elevated liver enzymes and low platelet count (hellp)//syndrome, hellp//toxemia of pregnancy//toxaemia nos//toxaemia of pregnancy//toxaemia of pregnancy, nos//toxemia//toxemia nos//toxemia nos (disorder)//toxemia of pregnancy (disorder)//toxemia of pregnancy, nos//toxemia, eph//toxemia, pregnancy//toxemias, eph//toxemias, pregnancy//elevated liver enzymes//hemolysis-elevated liver enzymes-low platelet count syndrome//hypertension induced by pregnancy//hypertension of preg.//hypertension of pregnancy nos//hypertension of pregnancy nos (disorder)//low platelets in pregnancy//pre-eclamptic toxaemia//preeclampsia//preeclampsia/eclampsia//proteinuric hypertension of pregnancy//syndrome of haemolysis, elevated liver enzymes and low platelet	CD46;HELLPAR;CFI;CFH	CD46;HELLPAR;CFI;CFH	https://raresource.nih.gov/literature/disease/0008528	0008528		244242	C0162739	D017359		CD46 molecule;HELLP associated long non-coding RNA;complement factor I;complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HELLP syndrome"	0	0	52615
Male infertility with azoospermia or oligozoospermia due to single gene mutation	arrest of spermatogenesis//spgf4//sycp3 azoospermia//spermatogenesis arrest//azoospermia caused by mutation in sycp3//azoospermia due to perturbations of meiosis//azoospermia with maturation arrest//pregnancy loss, recurrent, 4//pregnancy loss, recurrent, susceptibility to, 4//spermatogenic failure 4//spermatogenic failure 4; spgf4//spermatogenic failure type 4	TDRD9;SYCE1;SOHLH1;TAF4B;TEX11;TEX15;TEX14;SYCP3;KLHL10;CFTR;ZMYND15;PNLDC1;NANOS1;FANCM;NR5A1;XRCC2;MEIOB	TDRD9;SYCE1;SOHLH1;TAF4B;TEX11;TEX15;TEX14;SYCP3;KLHL10;CFTR;ZMYND15;PNLDC1;NANOS1;FANCM;NR5A1;XRCC2;MEIOB	https://raresource.nih.gov/literature/disease/0008530	0008530	270960	399805				tudor domain containing 9;synaptonemal complex central element protein 1;spermatogenesis and oogenesis specific basic helix-loop-helix 1;TATA-box binding protein associated factor 4b;testis expressed 11;testis expressed 15, meiosis and synapsis associated;testis expressed 14, intercellular bridge forming factor;synaptonemal complex protein 3;kelch like family member 10;CF transmembrane conductance regulator;zinc finger MYND-type containing 15;PARN like ribonuclease domain containing exonuclease 1;nanos C2HC-type zinc finger 1;FA complementation group M;nuclear receptor subfamily 5 group A member 1;X-ray repair cross complementing 2;meiosis specific with OB-fold	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Male infertility with azoospermia or oligozoospermia due to single gene mutation"	0	0	12
Congenital central hypoventilation syndrome	autonomic control, congenital failure of//cchs//cchs - congenital central hypoventilation//cchs with hirschsprung disease//cchs1//central hypoventilation syndrome, congenital, 1//central congenital hypoventilation syndrome//congenital central hypoventilation syndrome//congenital ondine curse//congenital central alveolar hypoventilation syndrome//congenital failure of autonomic control//congenital pulmonary hypoventilation//haddad syndrome//idiopathic congenital central alveolar hypoventilation//ohd//ondine curse, congenital//ondine-hirschsprung disease//ondine curse//ondine curse (formerly)//ondine syndrome//ondine's curse (formerly)//primary alveolar hypoventilation//central hypoventilation syndrome, congenital//central hypoventilation syndrome, congenital; cchs//congenital central hypoventilation	EDN3;PHOX2B;MYO1H;GDNF;BDNF	EDN3;PHOX2B;MYO1H;GDNF;BDNF	https://raresource.nih.gov/literature/disease/0008535	0008535	209880	661	C1275808			endothelin 3;paired like homeobox 2B;myosin IH;glial cell derived neurotrophic factor;brain derived neurotrophic factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital central hypoventilation syndrome"	0	0	802
Urocanic aciduria	encephalopathy due to urocanase deficiency//high urine urocanic acid levels//urocd//urocanase deficiency//urocanate hydratase deficiency//urocanase deficiency; urocd//urocanic aciduria//urocanic aciduria (disease)	UROC1	UROC1	https://raresource.nih.gov/literature/disease/0008539	0008539	276880	210128	C0268514			urocanate hydratase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Urocanic aciduria"	0	0	5
Gitelman syndrome	familial hypokalemia hypomagnesemia//familial hypokalemia-hypomagnesemia//gtlmns//gitelman syndrome//gitelman syndrome; gtlmns//gitelman's syndrome//hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria//hypokalemia-hypomagnesemia, familial//hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria//potassium and magnesium depletion//primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria//primary renotubular, hypomagnesemia-hypokalemia with hypocalciuria//primary renal tubular hypokalemic hypomagnesemia with hypocalciuria//syndrome, gitelman//syndrome, gitelman's//tubular hypomagnesemia hypokalemia with hypocalcuria//tubular hypomagnesemia-hypokalemia with hypocalcuria	CLCNKB;SLC12A3	CLCNKB;SLC12A3	https://raresource.nih.gov/literature/disease/0008547	0008547	263800	358	C0268450	D053579		chloride voltage-gated channel Kb;solute carrier family 12 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gitelman syndrome"	0	0	289
Moebius syndrome	absence or underdevelopment of the 6th and 7th cranial nerves//congenital oculofacial paralysis, moebius//congenital ophthalmoplegia and facial paresis//congenital bilateral facial palsy//congenital bilateral facial weakness//congenital facial diplegia//congenital facial diplegia syndrome//congenital oculofacial paralysis//facial diplegia, congenital//facial-limb disruptive spectrum//hypoglossia-hypodactyly syndrome//mbs//mobius syndrome//moebius sequence//mobius syndromes//moebius congenital oculofacial paralysis//moebius spectrum//moebius syndrome//moebius syndromes//moebius syndrome; mbs//möbius sequence//möbius syndrome//oromandibular-limb hypogenesis spectrum	REV3L;PLXND1	REV3L;PLXND1	https://raresource.nih.gov/literature/disease/0008549	0008549	157900	570	C0221060	D020331		REV3 like, DNA directed polymerase zeta catalytic subunit;plexin D1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Moebius syndrome"	0	0	1004
Dermatopathia pigmentosa reticularis	dpr//dpr - dermatopathia pigmentosa reticularis//dermatopathia pigmentosa reticularis//dermatopathia pigmentosa reticularis; dpr	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"	0	0	48
Infantile convulsions and choreoathetosis	convulsions, infantile, with paroxysmal choreoathetosis, familial//familial infantile convulsions and paroxysmal choreoathetosis//icca//icca infantile convulsions and choreoathetosis//icca syndrome//infantile convulsions and paroxysmal choreoathetosis, familial//infantile convulsion and choreoathetosis syndrome//paroxysmal kinesigenic dyskinesia with infantile convulsions//pkd/ic//paroxysmal kinesigenic dyskinesia and infantile convulsion//paroxysmal kinesigenic dyskinesia and infantile convulsions//convulsions, familial infantile, with paroxysmal choreoathetosis//convulsions, familial infantile, with paroxysmal choreoathetosis; icca//infantile convulsions and choreoathetosis	SCN8A;PRRT2;PDE2A	SCN8A;PRRT2;PDE2A	https://raresource.nih.gov/literature/disease/0008553	0008553	602066	31709	C1865926			sodium voltage-gated channel alpha subunit 8;proline rich transmembrane protein 2;phosphodiesterase 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile convulsions and choreoathetosis"	0	0	709
Dense deposit disease	chronic nephritic syndrome with c3 glomerulopathy with dense deposit disease//chronic nephritic syndrome with membranoproliferative glomerulonephritis, type 2//ddd//ddd mpgnii//dense deposit disease//dense deposit disease / membranoproliferative glomerulonephritis type ii//glomerulonephritides, hypocomplementemic//glomerulonephritides, membranoproliferative//glomerulonephritides, mesangiocapillary//glomerulonephritis membranoproliferative type 2//glomerulonephritis, hypocomplementemic//glomerulonephritis, membranoproliferative//glomerulonephritis, mesangiocapillary//hypocomplementemic glomerulonephritides//hypocomplementemic glomerulonephritis//mcgn - mesangiocapillary glomerulonephritis//mcgn type ii - mesangiocapillary glomerulonephritis type ii//mcgndd - mesangiocapillary glomerulonephritis, dense deposit//mpgn//mpgn - membranoproliferative glomerulonephritis//mpgn 2//mpgnii//membranoproliferative glomerulonephritides//membranoproliferative glomerulonephritis//membranoproliferative glomerulonephritis type ii//membranoproliferative glomerulonephritis, subendothelial//membranoproliferative glomerulonephritis, type i//membranoproliferative glomerulonephritis, type ii//membranoproliferative glomerulonephritis, type iii//membranoproliferative glomerulonephritis type 2//mesangiocapillary glomerulonephritides//mesangiocapillary glomerulonephritis//mesangiocapillary glomerulonephritis, type i//mesangiocapillary glomerulonephritis, type ii//mesangiocapillary glomerulonephritis type 2//mesangiocapillary glomerulonephritis type ii//primary mpgn//primary membranoproliferative glomerulonephritis//subendothelial membranoproliferative glomerulonephritis//type ii mpgn//chronic glomerulonephritis, lobular//lobular glomerulonephritis//membranoproliferative glomerulonephritis (disease)	CFHR1;CFH	CFHR1;CFH	https://raresource.nih.gov/literature/disease/0008555	0008555	609814	93571	C0268743	D015432		complement factor H related 1;complement factor H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dense deposit disease"	0	0	3401
Wilms tumor 2	fwt2//familial wilms tumor 2//wt2//wilms tumor 2; wt2//wilms tumor type 2	H19-ICR	H19-ICR	https://raresource.nih.gov/literature/disease/0008559	0008559			C3887743			H19-IGF2-imprinting control region	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Wilms tumor 2"	0	0	1
Seckel syndrome	bird-headed dwarf//bird-headed dwarf of seckel//bird-headed dwarfism//harper's syndrome//microcephalic primordial dwarfism//microcephalic primordial dwarfism i//microcephalic primordial dwarfism 1//nanocephalic dwarf//nanocephalic dwarfism//sckl//sckl1//seckel-type dwarfism//virchow-seckel dwarfism	PCNT;PLK4;CENPE;CEP152;CENPJ;ATRIP;NUP85;ATR;RBBP8;TRAIP	PCNT;PLK4;CENPE;CEP152;CENPJ;ATRIP;NUP85;ATR;RBBP8;TRAIP	https://raresource.nih.gov/literature/disease/0008562	0008562	210600	808	C0265202	C537533		pericentrin;polo like kinase 4;centromere protein E;centrosomal protein 152;centromere protein J;ATR interacting protein;nucleoporin 85;ATR serine/threonine kinase;RB binding protein 8, endonuclease;TRAF interacting protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Seckel syndrome"	0	0	283
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	autosomal recessive limb-girdle muscular dystrophy type 2f//delta-sarcoglycan-related lgmd r6//delta-sarcoglycanopathy//lgmd due to delta-sarcoglycan deficiency//lgmd type 2f//lgmd2f//lgmdr6//limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency//limb-girdle muscular dystrophy type 2f//muscular dystrophy, limb-girdle, type 2f//muscular dystrophy limb-girdle with delta-sarcoglyan deficiency//sgcd autosomal recessive limb-girdle muscular dystrophy//autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd//muscular dystrophy, limb-girdle, type 2f; lgmd2f	SGCD	SGCD	https://raresource.nih.gov/literature/disease/0008573	0008573	601287	219	C1832525			sarcoglycan delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"	0	0	584
Dysferlin-related limb-girdle muscular dystrophy R2	autosomal recessive limb-girdle muscular dystrophy type 2b//dysf autosomal recessive limb-girdle muscular dystrophy//dysferlin-related lgmd r2//lgmd due to dysferlin deficiency//lgmd type 2b//lgmd2b//lgmd3//lgmdr2//limb-girdle muscular dystrophy due to dysferlin deficiency//limb-girdle muscular dystrophy type 2b//muscular dystrophy, limb-girdle, type 2b//muscular dystrophy, limb-girdle, type 3//autosomal recessive limb-girdle muscular dystrophy caused by mutation in dysf//limb-girdle muscular dystrophy type 3//limb-girdle muscular dystrophy, type 2b//muscular dystrophy, limb-girdle, type 2b; lgmd2b	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0008574	0008574	253601	268	C1850889			dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dysferlin-related limb-girdle muscular dystrophy R2"	0	0	199
Parkinson disease 3, autosomal dominant	autosomal dominant parkinson disease//park3//parkinson disease 3, autosomal dominant lewy body//parkinson disease 3, autosomal dominant//parkinson disease 3//parkinson disease 3, autosomal dominant; park3//parkinson disease type 3//autosomal dominant lewy body parkinson disease 3//autosomal dominant parkinson disease 3	PARK3	PARK3	https://raresource.nih.gov/literature/disease/0008578	0008578			C1865581			Parkinson disease 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinson disease 3, autosomal dominant"	0	0	21
Cantú syndrome	cantu syndrome//cantu's syndrome//congenital hypertrichosis-acromegaloid facial features spectrum//congenital hypertrichosis-coarse facial features spectrum//craniofaciocardioskeletal syndrome//hypertrichotic osteochondrodysplasia//hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome//hypertrichotic osteochondrodysplasia cantu type//hypertrichotic osteochondrodysplasia, cantu type	KCNJ8;ABCC9	KCNJ8;ABCC9	https://raresource.nih.gov/literature/disease/0008585	0008585	239850	1517	C0795905	C535572		potassium inwardly rectifying channel subfamily J member 8;ATP binding cassette subfamily C member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cantú syndrome"	0	0	98
Hypercholesterolemia, familial, 2	hypercholesterolemia//apolipoprotein b-100//autosomal dominant//due to ligand-defective apolipoprotein b//familial//familial defective//familial ligand-defective//type b	APOB	APOB	https://raresource.nih.gov/literature/disease/0008588	0008588			C3888316		E78.2	apolipoprotein B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercholesterolemia, familial, 2"	0	0	22669
Spinal muscular atrophy with respiratory distress type 1	autosomal recessive distal spinal muscular atrophy 1//autosomal recessive distal spinal muscular atrophy type 1//autosomal recessive spinal muscular atrophy with respiratory distress//dhmn6//dsma1//diaphragmatic spinal muscular atrophy//distal hereditary motor neuronopathy type vi//distal spinal muscular atrophy type 1//distal hereditary motor neuropathy type 6//distal-hmn type 6//hmn 6//hmn vi//hmn6//hmnvi//ighmbp2 spinal muscular atrophy//neuronopathy, distal hereditary motor, type vi//neuronopathy, severe infantile axonal, with respiratory failure//severe infantile axonal neuropathy with respiratory failure//sianrf//smard 1//smard1//spinal muscular atrophy with respiratory distress 1//spinal muscular atrophy, diaphragmatic//severe infantile axonal neuropathy with respiratory failure type 1//spinal muscular atrophy with respiratory distress//spinal muscular atrophy with respiratory distress type 1//spinal muscular atrophy, distal, autosomal recessive, 1//neuronopathy, distal hereditary motor, type 6//spinal muscular atrophy caused by mutation in ighmbp2//spinal muscular atrophy, distal, autosomal recessive, 1; dsma1//spinal muscular atrophy, distal, autosomal recessive, type 1	IGHMBP2	IGHMBP2	https://raresource.nih.gov/literature/disease/0008592	0008592	604320	98920	C1858517			immunoglobulin mu DNA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinal muscular atrophy with respiratory distress type 1"	0	0	90
Ataxia with vitamin E deficiency	ataxia, friedreich-like, with selective vitamin e deficiency//aved//ataxia with isolated vitamin e deficiency//friedreich-like ataxia//familial isolated vitamin e deficiency//familial isolated deficiency of vitamin e//friedreich ataxia phenotype with selective vitamin e deficiency//friedreich-like ataxia with selective vitamin e deficiency//isolated vitamin e deficiency//ved//vitamin e deficiency, familial isolated//vitamin e, familial isolated deficiency of//ataxia with vitamin e deficiency//familial isolated deficiency of vitamin type e//vitamin e, familial isolated deficiency of; ved	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[]=Ataxia with vitamin E deficiency"	0	0	211
Gastrointestinal stromal tumor	gant//gi stroma tumor//gi stroma tumour//gist//gist - gastrointestinal stromal tumor//gist, malignant//gastrointestinal stromal neoplasm//gastrointestinal stromal neoplasms//gastrointestinal stromal sarcoma//gastrointestinal stromal tumor//gastrointestinal stromal tumors//gastrointestinal pacemaker cell tumor//gastrointestinal stroma tumor//gastrointestinal stroma tumour//gastrointestinal stromal tumor, malignant//gastrointestinal stromal tumor, somatic//gastrointestinal stromal tumour//gastrointestinal stromal tumours//malignant gastrointestinal stromal tumor//neoplasm, gastrointestinal stromal//neoplasms, gastrointestinal stromal//stromal neoplasm, gastrointestinal//stromal neoplasms, gastrointestinal//stromal tumor, gastrointestinal//stromal tumors, gastrointestinal//stromal tumor of gastrointestinal tract//stromal tumour of gastrointestinal tract//tumor, gastrointestinal stromal//tumors, gastrointestinal stromal//gastrointestinal stromal tumor (gist)//gastrointestinal stromal tumor; gist	SDHB;SDHA;KIT;SDHC;PDGFRA	SDHB;SDHA;KIT;SDHC;PDGFRA	https://raresource.nih.gov/literature/disease/0008598	0008598	606764	44890	C3179349	D046152		succinate dehydrogenase complex iron sulfur subunit B;succinate dehydrogenase complex flavoprotein subunit A;KIT proto-oncogene, receptor tyrosine kinase;succinate dehydrogenase complex subunit C;platelet derived growth factor receptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gastrointestinal stromal tumor"	0	0	11068
Saldino-Mainzer syndrome	conorenal syndrome//mainzer-saldino syndrome//mzsds//mainzer saldino syndrome//mainzer-saldino disease//renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia//renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia//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//short-rib thoracic dysplasia 9 with or without polydactyly//short-rib thoracic dysplasia 9 without polydactyly//srtd9//saldino-mainzer disease//saldino-mainzer dysplasia//short-rib thoracic dysplasia 9 with or without polydactyly; srtd9	IFT140;IFT172	IFT140;IFT172	https://raresource.nih.gov/literature/disease/0008600	0008600	615630	140969	C1849437	C535463		intraflagellar transport 140;intraflagellar transport 172	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Saldino-Mainzer syndrome"	0	0	31
Amish lethal microcephaly	amish lethal microcephaly//amish microcephaly//mcpha//microcephaly, amish type//thiamine metabolism dysfunction syndrome 3 (microcephaly type)//thmd3//microcephaly, amish type; mcpha	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"	0	0	11
Idiopathic pulmonary fibrosis	cfa//cryptogenic fibrosing alveolitides//cryptogenic fibrosing alveolitis//dysplasia, fibrocystic pulmonary//fibrocystic pulmonary dysplasia//fibrosing alveolitis, cryptogenic//familial idiopathic pulmonary fibrosis//fibrocystic pulmonary dysplasias//fibrosing alveolitides, cryptogenic//fibrosing alveolitis//hamman-rich disease//idiopathic pulmonary fibrosis, familial//interstitial pneumonitis, usual//ipf//idiopathic fibrosing alveolitis, chronic form//idiopathic pulmonary fibroses//interstitial pneumonia, usual//pneumonitides, usual interstitial//pneumonitis, usual interstitial//pulmonary dysplasia, fibrocystic//pulmonary fibroses, idiopathic//pulmonary fibrosis, idiopathic//uip//usual interstitial pneumonia//usual interstitial pneumonias//usual interstitial pneumonitides//usual interstitial pneumonitis//idiopathic pulmonary fibrosis//pulmonary fibrosis, idiopathic; ipf	PARN;SFTPA1;SFTPA2;SFTPC;TERC;TERT;ATP11A;RTEL1;DPP9;FAM13A;STN1;DSP;ABCA3;MUC5B	PARN;SFTPA1;SFTPA2;SFTPC;TERC;TERT;ATP11A;RTEL1;DPP9;FAM13A;STN1;DSP;ABCA3;MUC5B	https://raresource.nih.gov/literature/disease/0008609	0008609	616373	2032	C0085786	D054990		poly(A)-specific ribonuclease;surfactant protein A1;surfactant protein A2;surfactant protein C;telomerase RNA component;telomerase reverse transcriptase;ATPase phospholipid transporting 11A;regulator of telomere elongation helicase 1;dipeptidyl peptidase 9;family with sequence similarity 13 member A;STN1 subunit of CST complex;desmoplakin;ATP binding cassette subfamily A member 3;mucin 5B, oligomeric mucus/gel-forming	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic pulmonary fibrosis"	0	0	14567
Sickle cell anemia	anemia, sickle cell//anemias, sickle cell//cell disease, sickle//cell diseases, sickle//cell disorder, sickle//cell disorders, sickle//disease, hemoglobin s//drepanocythaemia//drepanocythemia//hb-s dis w/o crisis nec//hb-ss dis nec w crisis//haemoglobin s disease//haemoglobin s-s disease//hb s disease//hb sc disease//hb ss disease//hb-s/hb-c disease//hb-ss disease without crisis//hbs disease//hemoglobin s disease//hemoglobin s diseases//hemoglobin s disease without crisis//hemoglobin s disease without crisis (disorder)//hemoglobin s-s disease//hemoglobin ss//hemoglobin ss disease//hemoglobin ss disease without crisis (disorder)//hereditary hemoglobinopathy disorder homozygous for hemoglobin s//hereditary hemoglobinopathy disorder homozygous for hemoglobin s (disorder)//other sickle-cell disease with crisis//other sickle-cell disease without crisis//scd//sickle cell disease nos//sickle cell anemia//sickle cell anemias//sickle cell disease//sickle cell diseases//sickle cell disorder//sickle cell disorders//sickle cell anaemia//sickle cell anaemia nos//sickle cell anaemia of unspecified type//sickle cell anemia nos//sickle cell anemia nos (disorder)//sickle cell anemia of unspecified type//sickle cell anemia of unspecified type (disorder)//sickle cell syndrome//sickle cell-hemoglobin ss disease//sickle-cell disease//sickle-cell disease, unspecified//sickle-cell/hb-c disease without crisis//sickling disorder due to hemoglobin s//drepanocytosis//haemoglobin sc disease//hemoglobin sc disease	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[]=Sickle cell anemia"	0	0	31707
Primary myelofibrosis	amm//agnogenic myeloid metaplasia//agnogenic myeloid metaplasias//aleukemic myelosis//bone marrow fibroses//bone marrow fibrosis//cimf//chronic idiopathic myelofibrosis//fibroses, bone marrow//fibrosis, bone marrow//idiopathic bone marrow fibrosis//idiopathic myelofibrosis//mmm//myelofibrosis with myeloid metaplasia//megakaryocytic myelosclerosis//metaplasia, agnogenic myeloid//metaplasia, myeloid//metaplasias, agnogenic myeloid//metaplasias, myeloid//myelofibroses//myelofibroses, primary//myelofibrosis//myelofibrosis as a result of myeloproliferative disease//myelofibrosis, primary//myelofibrosis, somatic//myeloid metaplasia//myeloid metaplasia, agnogenic//myeloid metaplasias//myeloid metaplasias, agnogenic//myeloscleroses//myelosclerosis//myelosclerosis with myeloid metaplasia//myeloses, nonleukemic//myelosis, nonleukemic//nonleukemic myeloses//nonleukemic myelosis//osteomyelofibrosis//primary myelofibroses//primary myelofibrosis	JAK2;TET2;CALR;MPL	JAK2;TET2;CALR;MPL	https://raresource.nih.gov/literature/disease/0008618	0008618	254450	824	C0026987			Janus kinase 2;tet methylcytosine dioxygenase 2;calreticulin;MPL proto-oncogene, thrombopoietin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary myelofibrosis"	0	0	8465
Uveal melanoma	choroidal melanoma//intraocular melanoma//iris melanoma//melanoma of the uvea//melanoma, uveal//uvm//uveal tract melanoma//iris malignant melanoma//iris melanoma (disease)//malignant iris melanoma//malignant melanoma of iris//malignant melanoma of the iris//melanoma (disease) of iris//melanoma (disease) of uvea//melanoma of uvea//melanoma of iris//melanoma of the iris//melanoma, uveal, malignant//uvea melanoma//uvea melanoma (disease)//uveal melanoma	BAP1;GNAQ;SF3B1;CYSLTR2;GNA11	BAP1;GNAQ;SF3B1;CYSLTR2;GNA11	https://raresource.nih.gov/literature/disease/0008621	0008621	606661	39044	C0346373	C536494		BRCA1 associated protein 1;G protein subunit alpha q;splicing factor 3b subunit 1;cysteinyl leukotriene receptor 2;G protein subunit alpha 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Uveal melanoma"	0	0	6735
Reticular dysgenesis	ak2 deficiency//aleukocytosis//congenital aleukia//congenital aleukocytosis//de vaal disease//de vaal syndrome//devaal disease//generalized hematopoietic hypoplasia//hematopoietic hypoplasia, generalized//immunodeficiency with generalized hematopoietic hypoplasia//immunoerythromyeloid hypoplasia//rd//reticular dysgenesia//scid - severe combined immunodeficiency, neutropenia and thrombocytopenia//scid with leukopenia//severe combined immunodeficiency with leukopenia//severe combined immunodeficiency, neutropenia and thrombocytopenia//reticular dysgenesis	AK2	AK2	https://raresource.nih.gov/literature/disease/0008625	0008625	267500	33355	C1282908	C538361		adenylate kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reticular dysgenesis"	0	0	4344
Congenital alveolar capillary dysplasia	acd mpv//acd-mpv//acdmpv//alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies//alveolar capillary dysplasia with misalignment of pulmonary veins//alveolar capillary dysplasia//alveolar capillary dysplasia with misalignment of pulmonary vessels//alveolar capillary dysplasia with pulmonary venous misalignment//circulation, persistent fetal//familial persistent pulmonary hypertension of the newborn//fetal circulation, persistent//fetal circulation//hypertension, pulmonary, of newborn, persistent//misalignment of the pulmonary vessels//pfc - persistent fetal circulation//pfc - persistent foetal circulation//pphn//pphn - persistent pulmonary hypertension in newborn//persistent fetal circulation//persistent pulmonary hypertension of newborn//persistent fetal circulation syndrome//persistent foetal circulation//persistent pulmonary hypertension of the newborn//pulmonary hypertension, familial persistent, of the newborn//pulmonary hypertension, familial persistent of the newborn//alveolar capillary dysplasia with misalignment of pulmonary veins; acdmpv//congenital alveolar capillary dysplasia//congenital alveolar capillary dysplasia with misalignment of pulmonary veins//persistent foetal circulation syndrome	FOXF1	FOXF1	https://raresource.nih.gov/literature/disease/0008644	0008644	265380	210122	C2677362			forkhead box F1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital alveolar capillary dysplasia"	0	0	1195
Crigler-Najjar syndrome type 2	anis syndrome//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 syndrome, type ii//crigler-najjar syndrome type ii//crigler-najjar syndrome, type 2//crigler-najjar type 2//hblrcn2//hyperbilirubinemia, crigler-najjar type ii//hereditary unconjugated hyperbilirubinemia type 2//mutation in the udp-glucuronosyl-transferase gene//ugt deficiency type 2//hyperbilirubinemia, crigler-najjar type 2	UGT1A1	UGT1A1	https://raresource.nih.gov/literature/disease/0008683	0008683	606785	79235	C0268311	C536213		UDP glucuronosyltransferase family 1 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Crigler-Najjar syndrome type 2"	0	0	90
Autoimmune lymphoproliferative syndrome	alps//alps (autoimmune lymphoproliferative syndrome)//alps1a//alps1b//autoimmune lymphoproliferative syndrome, type i, autosomal dominant//autoimmune lymphoproliferative syndrome, type i, autosomal recessive//autoimmune lymphoproliferative syndrome, type ia//autoimmune lymphoproliferative syndrome, type ib//autoimmune lymphoproliferative syndrome type 1, autosomal dominant//autoimmune lymphoproliferative syndrome type 2b//autoimmune lymphoproliferative syndrome type 2b (alps2b)//autoimmune lymphoproliferative syndrome, type iib//autoimmune lymphoproliferative syndromes//canale-smith syndrome//canale smith syndrome//canale-smith syndromes//caspase 8 deficiencies//caspase 8 deficiency//caspase-8 deficiencies//caspase-8 deficiency//deficiencies, caspase 8//deficiencies, caspase-8//deficiency, caspase 8//deficiency, caspase-8//fas deficiency//fas-related autoimmune lymphoproliferative syndrome//lymphoproliferative syndrome, autoimmune//lymphoproliferative syndromes, autoimmune//syndrome, autoimmune lymphoproliferative//syndrome, canale smith//syndrome, canale-smith//syndromes, autoimmune lymphoproliferative//syndromes, canale-smith//autoimmune lymphoproliferative syndrome//autoimmune lymphoproliferative syndrome type 1//autoimmune lymphoproliferative syndrome; alps	FAS;FASLG;CASP10;PRKCD;RASGRP1	FAS;FASLG;CASP10;PRKCD;RASGRP1	https://raresource.nih.gov/literature/disease/0008686	0008686	615559	3261	C1328840	D056735		Fas cell surface death receptor;Fas ligand;caspase 10;protein kinase C delta;RAS guanyl releasing protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome"	0	0	681
Osteogenesis imperfecta type 1	adair-dighton syndrome//classic non-deforming oi with blue sclerae//mild osteogenesis imperfecta//non-deforming osteogenesis imperfecta//oi type 1//oi, type i//oi, type 1//oi1//osteogenesis imperfecta tarda//osteogenesis imperfecta with blue sclerae//osteogenesis imperfecta type i//van der hoeve syndrome//osteogenesis imperfecta type 1//osteogenesis imperfecta, type 1//osteogenesis imperfecta, type i//osteogenesis imperfecta, type i; oi1	SEC24D;P4HB;MBTPS2;COL1A2;COL1A1	SEC24D;P4HB;MBTPS2;COL1A2;COL1A1	https://raresource.nih.gov/literature/disease/0008694	0008694	166200	216796				SEC24 homolog D, COPII coat complex component;prolyl 4-hydroxylase subunit beta;membrane bound transcription factor peptidase, site 2;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 1"	0	0	306
Osteogenesis imperfecta type 3	oi type 3//oi type iii//oi, type iii//oi, type 3//oi, type 3 osteogenesis imperfecta, type 3//oi, type iii osteogenesis imperfecta, type iii//oi3//oi3 osteogenesis imperfecta 3//osteogenesis imperfecta, progressively deforming, with normal sclerae//osteogenesis imperfecta, type iii//osteogenesis imperfecta type iii//osteogenesis imperfecta, progressively deforming with normal sclerae//progressive deforming osteogenesis imperfecta//progressively deforming osteogenesis imperfecta//progressively deforming oi//severe osteogenesis imperfecta//osteogenesis imperfecta type 3//osteogenesis imperfecta, type 3//osteogenesis imperfecta, type iii; oi3//progressively deforming osteogenesis imperfecta with normal sclera	CREB3L1;P3H1;COL1A2;CRTAP;PPIB;SERPINF1;BMP1;WNT1;FKBP10;TENT5A;COL1A1;SERPINH1	CREB3L1;P3H1;COL1A2;CRTAP;PPIB;SERPINF1;BMP1;WNT1;FKBP10;TENT5A;COL1A1;SERPINH1	https://raresource.nih.gov/literature/disease/0008695	0008695	615220	216812	C0268362	C536044		cAMP responsive element binding protein 3 like 1;prolyl 3-hydroxylase 1;collagen type I alpha 2 chain;cartilage associated protein;peptidylprolyl isomerase B;serpin family F member 1;bone morphogenetic protein 1;Wnt family member 1;FKBP prolyl isomerase 10;terminal nucleotidyltransferase 5A;collagen type I alpha 1 chain;serpin family H member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 3"	0	0	126
Osteogenesis imperfecta type 4	common variable osteogenesis imperfecta with normal sclerae//common variable oi with normal sclerae//oi type 4//oi type iv//oi, type iv//oi, type 4//oi, type 4 osteogenesis imperfecta, type 4//oi, type iv osteogenesis imperfecta, type iv//oi4//osteogenesis imperfecta with normal sclerae//osteogenesis imperfecta, type iv, with dentinogenesis imperfecta//osteogenesis imperfecta type iv//osteogenesis imperfecta with normal sclerae, dominant form//osteogenesis imperfecta type 4//osteogenesis imperfecta with normal sclera//osteogenesis imperfecta, type 4//osteogenesis imperfecta, type iv//osteogenesis imperfecta, type iv; oi4	PPIB;SERPINF1;TMEM38B;CRTAP;SP7;COL1A2;FKBP10;SPARC;WNT1;COL1A1	PPIB;SERPINF1;TMEM38B;CRTAP;SP7;COL1A2;FKBP10;SPARC;WNT1;COL1A1	https://raresource.nih.gov/literature/disease/0008696	0008696	615066	216820	C0268363	C536045		peptidylprolyl isomerase B;serpin family F member 1;transmembrane protein 38B;cartilage associated protein;Sp7 transcription factor;collagen type I alpha 2 chain;FKBP prolyl isomerase 10;secreted protein acidic and cysteine rich;Wnt family member 1;collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 4"	0	0	73
Gnathodiaphyseal dysplasia	gdd//gnathodiaphyseal sclerosis//gnathodiaphyseal dysplasia; gdd//gnathodiaphyseal dysplasia//gnathodiaphyseal dysplasia syndrome//levin syndrome 2//osteogenesis imperfecta with unusual skeletal lesions//osteogenesis imperfecta levin type//osteogenesis imperfecta, levin type	ANO5	ANO5	https://raresource.nih.gov/literature/disease/0008698	0008698	166260	53697				anoctamin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gnathodiaphyseal dysplasia"	0	0	317
Osteogenesis imperfecta type 5	ifitm5 osteogenesis imperfecta//oi type 5//oi type v//oi with calcification in interosseous membranes//oi, type v//oi, type 5//oi, type 5 osteogenesis imperfecta, type 5//oi, type v osteogenesis imperfecta, type v//oi5//oi5 osteogenesis imperfecta 5//osteogenesis imperfecta, type v//osteogenesis imperfecta type v//osteogenesis imperfecta with normal sclerae//osteogenesis imperfecta, type 5//type v oi//osteogenesis imperfecta caused by mutation in ifitm5//osteogenesis imperfecta type 5//osteogenesis imperfecta, type v; oi5	IFITM5	IFITM5	https://raresource.nih.gov/literature/disease/0008699	0008699	610967	216828	C1970414	C536046		interferon induced transmembrane protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta type 5"	0	0	70
Osteogenesis imperfecta, type vi	oi type 6//oi type vi//oi, type vi//oi, type 6 osteogenesis imperfecta, type 6//oi, type vi osteogenesis imperfecta, type vi//oi6//oi6 osteogenesis imperfecta 6//osteogenesis imperfecta, type vi//osteogenesis imperfecta type//osteogenesis imperfecta type 6//osteogenesis imperfecta type vi//serpinf1 osteogenesis imperfecta//serpinf1-related osteogenesis imperfecta//serpinfi- related osteogenesis imperfecta//osteogenesis imperfecta caused by mutation in serpinf1//osteogenesis imperfecta, type 6//osteogenesis imperfecta, type vi; oi6	SERPINF1	SERPINF1	https://raresource.nih.gov/literature/disease/0008700	0008700			C3279564			serpin family F member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type vi"	0	0	49
Osteogenesis imperfecta, type vii	crtap osteogenesis imperfecta//crtap-related osteogenesis imperfecta//oi type 2b//oi type 7//oi type 7 osteogenesis imperfecta type 7//oi type iib//oi type vii//oi type vii osteogenesis imperfecta type vii//oi, type vii//oi, type 7//oi2b, formerly//oi7//oi7 osteogenesis imperfecta 7//osteogenesis imperfecta, type iib//osteogenesis imperfecta, type iib, formerly//oi//osteogenesis imperfecta type vii//osteogenesis imperfecta type 2b//osteogenesis imperfecta, perinatal lethal autosomal recessive//formerly//osteogenesis imperfecta//osteogenesis imperfecta caused by mutation in crtap//osteogenesis imperfecta type 7//osteogenesis imperfecta, type 7//osteogenesis imperfecta, type vii//osteogenesis imperfecta, type vii; oi7//type iib//type vii	CRTAP	CRTAP	https://raresource.nih.gov/literature/disease/0008701	0008701			C1853162			cartilage associated protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type vii"	0	0	5917
Tibial hemimelia	absence of tibia//bilateral absence of the tibia//congenital absence of tibia//congenital aplasia and dysplasia of the tibia with intact fibula//congenital longitudinal deficiency of the tibia//thm//tibia, absence of//tibial longitudinal meromelia//tibial longitudinal meromelia, bilateral//tibial longitudinal meromelia, unilateral//tibial hemimelia//tibial hemimelia, bilateral//tibial hemimelia, unilateral	GLI3	GLI3	https://raresource.nih.gov/literature/disease/0008707	0008707	275220	93322	C0265633			GLI family zinc finger 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tibial hemimelia"	0	0	117
Spheroid body myopathy	autosomal dominant spheroid body myopathy//myopathy, spheroid body//spheroid body myopathy	MYOT	MYOT	https://raresource.nih.gov/literature/disease/0008711	0008711	182920	268129	C1866785			myotilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spheroid body myopathy"	0	0	15
Odontochondrodysplasia	chondrodysplasia - dentinogenesis imperfecta - joint laxity//chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome//goldblatt syndrome//goldblatt chondrodysplasia//odcd//odcd1//spondylometaphyseal dysplasia with dentinogenesis imperfecta//odontochondrodysplasia	TRIP11	TRIP11	https://raresource.nih.gov/literature/disease/0008717	0008717	184260	166272	C2745953			thyroid hormone receptor interactor 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odontochondrodysplasia"	0	0	19
Paroxysmal kinesigenic dyskinesia	dystonia 10//dystonia, familial paroxysmal//dyt-prrt2//dyt10//ekd1//episodic kinesigenic dyskinesia 1//familial pkd//familial paroxysmal kinesigenic dyskinesia//paroxysmal kinesigenic choreoathetosis//paroxysmal kinesigenic dyskinesia//pkc//pkd//prrt2 episodic kinesigenic dyskinesia//paroxysmal kinesigenic choreathetosis//pxmd-prrt2//episodic kinesigenic dyskinesia 1; ekd1//episodic kinesigenic dyskinesia caused by mutation in prrt2//episodic kinesigenic dyskinesia type 1	KCNA1;PRRT2	KCNA1;PRRT2	https://raresource.nih.gov/literature/disease/0008721	0008721	128200	98809	C1868682			potassium voltage-gated channel subfamily A member 1;proline rich transmembrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal kinesigenic dyskinesia"	0	0	2053
Paroxysmal non-kinesigenic dyskinesia	choreoathetosis, familial paroxysmal//choreoathetosis, nonkinesigenic//choreoathetosis familial paroxysmal//dystonia 8//dyt-mr-1//dyt8//fpd1//familial paroxysmal nonkinesigenic dyskinesia//familial paroxysmal choreoathetosis//mount-reback syndrome//nonkinesigenic choreoathetosis//paroxysmal dystonic choreoathetosis//pdc//pnkd//pnkd paroxysmal dyskinesia//pnkd1//paroxysmal nonkinesigenic dyskinesia 1//paroxysmal nonkinesigenic dyskinesia//paroxysomal nonkinesigenic dyskinesia//paroxystic non-kinesigenic choreoathetosis//pxmd-pnkd//paroxysmal dyskinesia caused by mutation in pnkd//paroxysmal non-kinesigenic dyskinesia//paroxysmal nonkinesigenic dyskinesia 1; pnkd1//paroxysmal nonkinesigenic dyskinesia type 1	PRRT2;PNKD	PRRT2;PNKD	https://raresource.nih.gov/literature/disease/0008722	0008722	611147	98810	C1869117	C537181		proline rich transmembrane protein 2;PNKD metallo-beta-lactamase domain containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal non-kinesigenic dyskinesia"	0	0	115
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	5q minus syndrome//5q- syndrome//5q deletion syndrome//5q syndrome//5q- syndrome, refractory macrocytic anemia due to 5q deletion//macrocytic anemia, refractory, due to 5q deletion//mar//megakaryocytes, unilobular nucleated//refractory macrocytic anemia due to 5q deletion//chromosome 5q deletion syndrome//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	C1292779			ribosomal protein S14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"	0	0	419
Childhood-onset hypophosphatasia	childhood hypophosphatasia//childhood-onset rathbun disease//childhood-onset rathburn disease//childhood-onset phosphoethanolaminuria//hppc//hypophosphatasia, childhood//hypophosphatasia, childhood type//juvenile hypophosphatasia//childhood-onset hypophosphatasia//hypophosphatasia of childhood//pediatric hypophosphatasia	ALPL	ALPL	https://raresource.nih.gov/literature/disease/0008735	0008735	241510	247667	C0220743			alkaline phosphatase, biomineralization associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset hypophosphatasia"	0	0	19
Meckel syndrome, type 2	meckel-gruber syndrome, type 2//mks2//mks2-related meckel syndrome//meckel syndrome, type 2//meckel syndrome 2//meckel syndrome caused by mutation in tmem216//meckel syndrome type 2//meckel syndrome, type 2; mks2//meckel-gruber syndrome//tmem216 meckel syndrome//tmem216-related meckel syndrome//type 2	TMEM216	TMEM216	https://raresource.nih.gov/literature/disease/0008743	0008743			C1864148			transmembrane protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 2"	0	0	6939
Meckel syndrome, type 3	meckel-gruber syndrome, type 3//mks3//meckel syndrome, type 3//meckel syndrome 3//meckel syndrome caused by mutation in tmem67//meckel syndrome type 3//meckel syndrome, type 3; mks3//meckel-gruber syndrome//tmem67 meckel syndrome//tmem67-related meckel syndrome//type 3	TMEM67	TMEM67	https://raresource.nih.gov/literature/disease/0008744	0008744			C1846357			transmembrane protein 67	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meckel syndrome, type 3"	0	0	444
Greenberg dysplasia	autosomal recessive lethal chondrodystrophy with congenital hydrops//chondrodystrophy, hydropic and prenatally lethal type//grbgd//greenberg skeletal dysplasia//greenberg dysplasia; grbgd//greenberg type//hem//hem skeletal dysplasia//hem dysplasia//hem/greenberg dysplasia//hydrops-ectopic calcification-moth-eaten skeletal dysplasia//hydrops - ectopic calcification - moth-eaten skeletal dysplasia//hydrops - ectopic calcification - motheaten//hydrops, ectopic calcification, moth-eaten skeletal dysplasia//hydrops-ectopic calcification-motheaten syndrome//moth-eaten skeletal dysplasia//skeletal dysplasia//skeletal dysplasia, greenberg type//dappled diaphyseal dysplasia	LBR	LBR	https://raresource.nih.gov/literature/disease/0008754	0008754	215140	1426	C2931048	C537299		lamin B receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Greenberg dysplasia"	0	0	2444
Lethal ataxia with deafness and optic atrophy	arts//arts syndrome and phosphoribosylpyrophosphate synthetase superactivity//ataxia, fatal x-linked, with deafness and loss of vision//arts syndrome//arts syndrome; arts//ataxia-deafness-optic atrophy, lethal//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//prps1-related disorders//x-linked fatal ataxia with deafness and loss of vision//fatal x-linked ataxia with deafness and loss of vision//intellectual disability, x-linked, syndromic 18//intellectual disability, x-linked, syndromic, arts type//lethal ataxia with deafness and optic atrophy//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[]=Lethal ataxia with deafness and optic atrophy"	0	0	44
Primary Fanconi renotubular syndrome	adult fanconi syndrome//detoni-debré-fanconi syndrome//fanconi renotubular syndrome//fanconi syndrome without cystinosis//frts//frts1//fanconi renotubular syndrome 1//fanconi renotubular syndrome 1; frts1//fanconi syndrome//luder-sheldon syndrome//primary fanconi renal syndrome//primary fanconi syndrome//renal fanconi syndrome//rfs//primary fanconi renotubular syndrome	NDUFAF6;EHHADH;GATM;SLC34A1	NDUFAF6;EHHADH;GATM;SLC34A1	https://raresource.nih.gov/literature/disease/0009118	0009118	613388	3337				NADH:ubiquinone oxidoreductase complex assembly factor 6;enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase;glycine amidinotransferase;solute carrier family 34 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary Fanconi renotubular syndrome"	0	0	1445
Treacher-Collins syndrome	bilateral and symmetric oto-mandibular dysplasia//collins syndrome, treacher//dysostoses, mandibulofacial//dysostoses, mandibulofacial (mfd1)//dysostosis, mandibulofacial//dysostosis, mandibulofacial (mfd1)//franceschetti klein syndrome//franceschetti zwahlen klein syndrome//franceschetti syndrome//franceschetti-klein syndrome//franceschetti-zwahlen-klein syndrome//franceschetti-zwahlen-klein syndromes//mandibulofacial dysostosis//mfd1//mandibulofacial dysostoses//mandibulofacial dysostoses (mfd1)//mandibulofacial dysostosis (mfd1)//mandibulofacial dysostosis without limb anomalies//syndrome, franceschetti-zwahlen-klein//syndrome, treacher collins//syndrome, treacher collins-franceschetti//syndromes, franceschetti-zwahlen-klein//syndromes, treacher collins-franceschetti//tcof//tcof1 treacher-collins syndrome//tcof1-related treacher collins syndrome//tcs//tcs1//treacher collins syndrome//treacher collins syndrome 1//treacher collins syndrome 1; tcs1//treacher collins-franceschetti syndrome//treacher collins franceschetti syndrome//treacher collins syndrome type 1//treacher collins-franceschetti syndromes//treacher-collins syndrome 1//treacher-collins syndrome caused by mutation in tcof1//zygoauromandibular dysplasia	TCOF1;POLR1B;POLR1C;POLR1D	TCOF1;POLR1B;POLR1C;POLR1D	https://raresource.nih.gov/literature/disease/0009124	0009124	618939	861	C0242387			treacle ribosome biogenesis factor 1;RNA polymerase I subunit B;RNA polymerase I and III subunit C;RNA polymerase I and III subunit D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher-Collins syndrome"	0	0	1720
Treacher collins syndrome 3	mandibulofacial dysostosis, treacher collins type, autosomal recessive//mandibulofacial dysostosis//polr1c treacher-collins syndrome//tcs3//treacher collins syndrome 3; tcs3//treacher collins syndrome 3//treacher collins syndrome type 3//treacher-collins syndrome caused by mutation in polr1c//autosomal recessive//treacher collins type	POLR1C	POLR1C	https://raresource.nih.gov/literature/disease/0009125	0009125			C1855433			RNA polymerase I and III subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Treacher collins syndrome 3"	0	0	546
Agnathia-holoprosencephaly-situs inversus syndrome	agotc//agnathia-holoprosencephaly//dysgnathia complex agnathia-holoprosencephaly//dysgnathia complex//holoprosencephaly-agnathia//otocephaly//agnathia-holoprosencephaly-situs inversus syndrome//agnathia-otocephaly complex//agnathia-otocephaly complex; agotc	PRRX1;OTX2	PRRX1;OTX2	https://raresource.nih.gov/literature/disease/0009126	0009126	202650	990				paired related homeobox 1;orthodenticle homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Agnathia-holoprosencephaly-situs inversus syndrome"	0	0	1054
Renal pseudohypoaldosteronism type 1	autosomal dominant pha1//autosomal dominant pseudohypoaldosteronism type 1//pha i, autosomal dominant//pha1a//pseudohypoaldosteronism type 1, autosomal dominant//pseudohypoaldosteronism type 1, dominant//pseudohypoaldosteronism type 1 autosomal dominant//pseudohypoaldosteronism, type i, autosomal dominant//pseudohypoaldosteronism, type i, dominant//renal pha1//autosomal dominant pha 1//pseudohypoaldosteronism, type i, autosomal dominant; pha1a//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[]=Renal pseudohypoaldosteronism type 1"	0	0	27
Cardiofaciocutaneous syndrome	braf cardiofaciocutaneous syndrome//braf-related cardiofaciocutaneous syndrome//cardiofaciocutaneous syndrome 1//cfc//cfc syndrome//cfc1//cfcs//cardio-facio-cutaneous syndrome//congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure//cardio-facial-cutaneous syndrome//cardiofaciocutaneous (cfc) syndrome//cardiofaciocutaneous syndrome//cardiofaciocutaneous syndrome 1; cfc1//cardiofaciocutaneous syndrome caused by mutation in braf//cardiofaciocutaneous syndrome type 1	KRAS;MAP2K2;BRAF;MAP2K1	KRAS;MAP2K2;BRAF;MAP2K1	https://raresource.nih.gov/literature/disease/0009146	0009146	115150	1340	C1275081	C535579		KRAS proto-oncogene, GTPase;mitogen-activated protein kinase kinase 2;B-Raf proto-oncogene, serine/threonine kinase;mitogen-activated protein kinase kinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiofaciocutaneous syndrome"	0	0	437
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	3 beta-hsd deficiency//3 alpha beta-hsd deficiency//3 alpha beta-hydroxysteroid dehydrogenase deficiency//3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of//3 beta-ol dehydrogenase deficiency//3-beta-hsd deficiency//3-beta-hydroxysteroid dehydrogenase, type ii, deficiency of//3-beta hydroxysteroid dehydrogenase deficiency//3-beta-hydroxysteroid dehydrogenase deficiency//3-beta hsd deficiency//3b-hydroxysteroid dehydrogenase deficiency//3beta-hsd deficiency//3beta-hsd deficiency congenital adrenal hyperplasia//3beta-hydroxysteroid dehydrogenase deficiency//adrenal hyperplasia ii//adrenal hyperplasia 2//cah due to 3-beta-hydroxysteroid dehydrogenase deficiency//hsd3b deficiency//hsdb//hsdb3//type ii 3-beta-hydroxysteroid dehydrogenase deficiency//type ii 3beta-hydroxysteroid dehydrogenase deficiency//adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency//congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HSD3B2	HSD3B2	https://raresource.nih.gov/literature/disease/0009152	0009152	201810	90791				hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"	0	0	113
Brody myopathy	autosomal recessive brody myopathy//brody disease//sarcoplasmic reticulum -ca2+atpase deficiency	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"	0	0	39
46,xy sex reversal 2	46,xy sex reversal//dax1-related//dosage-sensitive sex reversal	NR0B1	NR0B1	https://raresource.nih.gov/literature/disease/0009159	0009159			C1848296			nuclear receptor subfamily 0 group B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=46,xy sex reversal 2"	0	0	3
Alpha-N-acetylgalactosaminidase deficiency type 2	alpha-n-acetylgalactosaminidase deficiency, adult-onset//alpha-n-acetylgalactosaminidase deficiency, type ii//adult-onset alpha-n-acetylgalactosaminidase deficiency//alpha-n-acetylgalactosaminidase deficiency adult onset//alpha-n-acetylgalactosaminidase deficiency, type 2//kanzaki disease//naga - alpha-n-acetylgalactosaminidase deficiency type 2//naga deficiency, type ii//naga deficiency type 2//naga deficiency, type 2//schindler disease, type ii//schindler disease type 2//schindler disease, type 2//alpha-n-acetylgalactosaminidase deficiency type 2	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"	0	0	11
Roifman syndrome	rfmn//roifman syndrome; rfmn//spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency//spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency//spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency//spondyloepiphyseal dysplasia - retinal dystrophy - immunodeficiency//spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome//spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome	RNU4ATAC	RNU4ATAC	https://raresource.nih.gov/literature/disease/0009163	0009163	300258	353298	C1846059			RNA, U4atac small nuclear (U12-dependent splicing)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Roifman syndrome"	0	0	24
Rippling muscle disease	cav3 autosomal dominant limb-girdle muscular dystrophy//cav3 rippling muscle disease//cav3-related rippling muscle disease//lgmd1c//lgmd1c, formerly//limb-girdle muscular dystrophy, type 1c//muscular dystrophy, limb-girdle, type 1c, formerly//rippling muscle disease//rmd//rmd2//autosomal dominant limb-girdle muscular dystrophy caused by mutation in cav3//autosomal dominant limb-girdle muscular dystrophy type 1c//limb-girdle muscular dystrophy due to caveolin-3 deficiency//limb-girdle muscular dystrophy type 1c//muscular dystrophy limb-girdle type ic//muscular dystrophy, limb-girdle, type 1c//muscular dystrophy, limb-girdle, type 1c; lgmd1c//muscular dystrophy, limb-girdle, type ic//rippling muscle disease 2//rippling muscle disease 2; rmd2//rippling muscle disease caused by mutation in cav3//rippling muscle disease type 2	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0009164	0009164	606072	97238	C1853698	C535685		caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rippling muscle disease"	0	0	329
Rippling muscle disease 1	rmd1//rippling muscle disease, 1//rippling muscle disease 1//rippling muscle disease 1; rmd1	RMD1	RMD1	https://raresource.nih.gov/literature/disease/0009165	0009165			C1838254			Rippling muscle disease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rippling muscle disease 1"	0	0	None
Deafness, autosomal dominant 24	dfna 24//dfna24//deafness, autosomal dominant nonsyndromic sensorineural 24//autosomal dominant deafness 24//autosomal dominant nonsyndromic deafness 24//autosomal dominant nonsyndromic deafness type 24//deafness, autosomal dominant 24//deafness, autosomal dominant 24; dfna24	DFNA24	DFNA24	https://raresource.nih.gov/literature/disease/0009166	0009166			C1853451			Deafness, autosomal dominant 24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 24"	0	0	None
Deafness, autosomal dominant 22	deafness, autosomal dominant 22, with hypertrophic cardiomyopathy//dfna 22//dfna22//deafness, autosomal dominant 22//deafness, autosomal dominant nonsyndromic sensorineural 22//myo6 autosomal dominant nonsyndromic deafness//autosomal dominant deafness 22//autosomal dominant nonsyndromic deafness caused by mutation in myo6//autosomal dominant nonsyndromic deafness type 22//deafness, autosomal dominant 22; dfna22//deafness, autosomal dominant type 22	MYO6	MYO6	https://raresource.nih.gov/literature/disease/0009167	0009167			C2931767			myosin VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 22"	0	0	1
Familial expansile osteolysis	eof//expansile osteolysis, familial//feo//hepod//hereditary expansile polyostotic osteolytic dysplasia//mccabe disease//mccabe's disease//osteolysis, familial expansile//polyostotic osteolytic dysplasia, hereditary expansile//familial expansile osteolysis//familial expansile osteolysis; feo	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"	0	0	67
ADan amyloidosis	cerebellar ataxia, cataract, deafness, and dementia or psychosis//cerebral amyloid angiopathy, itm2b-related, 2//dementia, familial danish//danish type//familial danish dementia//fdd//familial dementia//familial dementia, danish type//heredopathia ophthalmootoencephalica//hooe//itm2b amyloidosis//itm2b-related cerebral amyloid angiopathy 2//cerebral amyloid angiopathy, itm2b-related, type 2	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"	0	0	185
Hypotrichosis simplex	apcdd1 hypotrichosis//hhs//hts//hypotrichosis simplex, generalized, hereditary//hypt1//hereditary hypotrichosis simplex//hereditary generalized hypotrichosis simplex//hypotrichosis 1//hypotrichosis 1; hypt1//hypotrichosis caused by mutation in apcdd1//hypotrichosis simplex//hypotrichosis type 1	RPL21;DSG4;LIPH;LSS;APCDD1;SNRPE;LPAR6	RPL21;DSG4;LIPH;LSS;APCDD1;SNRPE;LPAR6	https://raresource.nih.gov/literature/disease/0009170	0009170	614238	55654	C1854310	C537160		ribosomal protein L21;desmoglein 4;lipase H;lanosterol synthase;APC down-regulated 1;small nuclear ribonucleoprotein polypeptide E;lysophosphatidic acid receptor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis simplex"	0	0	910
Palmoplantar keratoderma i, striate, focal, or diffuse	keratoderma, palmoplantar, striate form i//keratosis palmoplantaris striata i//kpps1//keratoderma, palmoplantar striate form 1//keratosis palmoplantaris striata 1//ppks1//sppk1//striate palmoplantar keratoderma i//striate palmoplantar keratoderma 1//keratoderma//keratoderma, palmoplantar, striate form 1//palmoplantar//palmoplantar keratoderma i, striate, focal, or diffuse; ppks1//palmoplantar keratoderma i, striate, focal, or diffuse//striate form i	DSG1	DSG1	https://raresource.nih.gov/literature/disease/0009172	0009172		50942	C2931122			desmoglein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Palmoplantar keratoderma i, striate, focal, or diffuse"	0	0	212
Keratosis palmoplantaris striata iii	keratoderma, palmoplantar, striate form iii//keratosis palmoplantaris striata iii//kpps3//krt1 striate palmoplantar keratoderma//keratoderma palmoplantar striate form 3//keratosis palmoplantaris striata 3//ppks3//sppk3//striate palmoplantar keratoderma iii//striate palmoplantar keratoderma 3//keratoderma//keratoderma, palmoplantar, striate form 3//keratosis palmoplantaris striata iii; ppks3//keratosis palmoplantaris striata type 3//palmoplantar//striate form iii//striate palmoplantar keratoderma caused by mutation in krt1	KRT1	KRT1	https://raresource.nih.gov/literature/disease/0009173	0009173		50942	C2931123			keratin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Keratosis palmoplantaris striata iii"	0	0	211
Kufor-Rakeb syndrome	autosomal recessive parkinson disease 9//krppd//krppd kufor rakeb pallidopyramidal degeneration with supranuclear upgaze paresis and dementia//krs//kufor rakeb syndrome//kufor-rakeb syndrome; krs//pallidopyramidal degeneration with supranuclear upgaze paresis and dementia//park9//park9 - parkinson disease 9//parkinson disease 9, autosomal recessive, juvenile-onset//pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia//park 9//parkinson disease 9//parkinson disease 9, autosomal recessive//parkinson disease type 9//autosomal recessive juvenile onset parkinson disease 9//ceroid lipofuscinosis, neuronal, 12	ATP13A2	ATP13A2	https://raresource.nih.gov/literature/disease/0009174	0009174	606693	306674	C1847640			ATPase cation transporting 13A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kufor-Rakeb syndrome"	0	0	104
Parkinsonian-pyramidal syndrome	pallido-pyramidal syndrome//pallidopyramidal syndrome//park15//parkinson disease 15, autosomal recessive//parkinson disease 15, autosomal recessive early-onset//parkinsonian-pyramidal syndrome//pkps//pallido-pyramidal disease//parkinson disease 15, autosomal recessive early-onset; park15//parkinsonian pyramidal syndrome//autosomal recessive early-onset parkinson disease 15//autosomal recessive early-onset parkinson disease type 15//autosomal recessive early-onset parkinson's disease 15	FBXO7;SNCA	FBXO7;SNCA	https://raresource.nih.gov/literature/disease/0009175	0009175	260300	171695	C1850100			F-box protein 7;synuclein alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinsonian-pyramidal syndrome"	0	0	46
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	familial recurrent arthritis//fra//papa (pyogenic arthritis, pyoderma gangrenosum, acne) syndrome//papa syndrome//papas//pyogenic sterile arthritis, pyoderma gangrenosum, and acne//pyogenic arthritis, pyoderma gangrenosum and acne//pyogenic arthritis, pyoderma gangrenosum, acne syndrome//pyogenic arthritis, pyoderma gangrenosum, and acne//pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne//papa//pyogenic arthritis-pyoderma gangrenosum-acne syndrome	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"	0	0	271
Lethal congenital contracture syndrome type 2	erbb3 lethal congenital contracture syndrome//israeli-bedouin type//lccs2//lethal congenital contracture syndrome 2//multiple contracture syndrome, israeli bedouin type a//multiple contracture syndrome//multiple contracture syndrome israeli-bedouin type//multiple contracture syndrome, israeli bedouin type//multiple contracture syndrome, israeli-bedouin type//lethal congenital contracture syndrome 2; lccs2//lethal congenital contracture syndrome caused by mutation in erbb3//lethal congenital contracture syndrome type 2	ERBB3	ERBB3	https://raresource.nih.gov/literature/disease/0009177	0009177	607598	137776	C1843478			erb-b2 receptor tyrosine kinase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome type 2"	0	0	3
MEHMO syndrome	intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity//intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome//mehmo//mehmo (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome//mehmo syndrome; mehmo//mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity//mental retardation, x-linked, syndromic 20//mental retardation, x-linked, syndromic 25//mental retardation, x-linked, syndromic, borck type//mrxs20//mrxs25//mrxsbrk//mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome//x-linked mehmo syndrome//x-linked intellectual disability - epileptic seizures - hypogenitalism - microcephaly - obesity//x-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome//x-linked intellectual disability-epileptic seizures-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//intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; mehmo//mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; mehmo//syndromic x-linked intellectual disability 20//syndromic x-linked intellectual disability 25//syndromic x-linked mental retardation 20//syndromic x-linked mental retardation 25	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"	0	0	16
Familial abdominal aortic aneurysm	aaa//aaa1//abdominal aortic aneurysm//aneurysm, abdominal aortic//aortic aneurysm, familial abdominal//aortic aneurysm, familial abdominal, 1; aaa1//familial abdominal aortic aneurysm//hereditary abdominal aortic aneurysm	COL3A1	COL3A1	https://raresource.nih.gov/literature/disease/0009181	0009181	609782	86				collagen type III alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial abdominal aortic aneurysm"	0	0	16687
Progressive pseudorheumatoid arthropathy of childhood	arthropathy, progressive pseudorheumatoid, of childhood//ppac//ppd//pprd//progressive pseudorheumatoid arthropathy of childhood//progressive pseudorheumatoid chondrodysplasia//progressive pseudorheumatoid dysplasia//sedt-pa//spondyloepiphyseal dysplasia tarda with progressive arthropathy//spondyloepiphyseal dysplasia tarda - progressive arthropathy//spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome//arthropathy, progressive pseudorheumatoid, of childhood; ppac	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 arthropathy of childhood"	0	0	2524
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	atypical mycobacterial infection, disseminated//atypical mycobacterial infection, familial disseminated//atypical mycobacteriosis, familial//familial atypical mycobacteriosis, ifngr1-related//familial atypical mycobacteriosis, il12rb1-related//ifngr1 deficiency, autosomal recessive//imd27a//immunodeficiency 27a, mycobacteriosis, autosomal recessive//msmd//msmd due to complete ifngammar1 deficiency//msmd due to complete interferon gamma receptor 1 deficiency//mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency//mycobacterial disease, mendelian susceptibility to//immunodeficiency 27a//immunodeficiency 27a; imd27a//immunodeficiency type 27a	IFNGR1	IFNGR1	https://raresource.nih.gov/literature/disease/0009185	0009185	209950	99898	C2930924	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"	0	0	142
Charcot-Marie-Tooth disease type 1E	charcot-marie-tooth disease, demyelinating, type 1e//charcot-marie-tooth neuropathy and deafness, autosomal dominant//cmt 1e//cmt1e//charcot marie tooth disease type 1e//charcot-marie-tooth disease - deafness//charcot-marie-tooth disease and deafness//charcot-marie-tooth disease demyelinating type 1e//charcot-marie-tooth disease type ie//charcot-marie-tooth disease, type 1e//charcot-marie-tooth disease-deafness//charcot-marie-tooth disease-deafness syndrome//charcot-marie-tooth disease-deafness-intellectual disability syndrome//charcot-marie-tooth disease-hearing loss syndrome//charcot-marie-tooth disease-hearing loss-intellectual disability syndrome//deafness with charcot-marie-tooth disease//hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers//neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers//autosomal dominant charcot-marie-tooth neuropathy and deafness//hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers//neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers	PMP22	PMP22	https://raresource.nih.gov/literature/disease/0009190	0009190	118300	90658	C1861669	C537986		peripheral myelin protein 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 1E"	0	0	8
Autosomal dominant Charcot-Marie-Tooth disease type 2B	charcot-marie-tooth disease, autosomal dominant, type 2b//charcot-marie-tooth neuropathy, type 2b//cmt 2b//cmt2b//charcot marie tooth disease type 2b//charcot-marie-tooth neuropathy type 2b//charcot-marie-tooth disease type 2 caused by mutation in rab7a//charcot-marie-tooth disease type 2b//charcot-marie-tooth disease, type 2b//charcot-marie-tooth disease, axonal, type 2b//charcot-marie-tooth disease, axonal, type 2b; cmt2b//charcot-marie-tooth disease, neuronal, type 2b//hereditary motor and sensory neuropathy iib//hmsn iib//hmsn2b//hereditary motor and sensory neuropathy 2 b (hmsn 2 b)//peripheral sensory neuropathy, autosomal dominant (psn)//rab7a charcot-marie-tooth disease type 2//autosomal dominant charcot-marie-tooth disease type 2b//hereditary motor and sensory neuropathy 2b//hereditary motor and sensory nueropathy iib	RAB7A	RAB7A	https://raresource.nih.gov/literature/disease/0009192	0009192	600882	99936	C1833219			RAB7A, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2B"	0	0	39
Autosomal dominant Charcot-Marie-Tooth disease type 2F	charcot-marie-tooth disease, neuronal, type 2f//charcot-marie-tooth neuropathy, type 2f//cmt 2f//cmt2f//charcot marie tooth disease type 2f//charcot-marie-tooth neuropathy type 2f//charcot-marie-tooth disease axonal type 2f//charcot-marie-tooth disease type 2 caused by mutation in hspb1//charcot-marie-tooth disease type 2f//charcot-marie-tooth disease, type 2f//charcot-marie-tooth disease, axonal, type 2f//charcot-marie-tooth disease, axonal, type 2f; cmt2f//charcot-marie-tooth neuronal type 2f//hspb1 charcot-marie-tooth disease type 2//autosomal dominant charcot-marie-tooth disease type 2f	HSPB1	HSPB1	https://raresource.nih.gov/literature/disease/0009194	0009194	606595	99940	C1847823			heat shock protein family B (small) member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2F"	0	0	20
Charcot-Marie-Tooth disease type 4B2	charcot-marie-tooth disease, type 4b2, with early-onset glaucoma//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, with early-onset glaucoma//cmt 4b2//cmt4b2//charcot marie tooth disease type 4b2//charcot-marie-tooth neuropathy type 4b2//charcot-marie-tooth neuropathy type 4b2 (cmt4b2)//charcot-marie-tooth disease type 4 caused by mutation in sbf2//charcot-marie-tooth disease, type 4b2//charcot-marie-tooth disease, type 4b2; cmt4b2//sbf2 charcot-marie-tooth disease type 4//autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b2	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"	0	0	1759
Dejerine-Sottas syndrome	charcot-marie-tooth disease, type 3//cmt3//cmt4f//charcot marie tooth disease, type 3//charcot-marie-tooth disease, demyelinating, type 4f//charcot-marie-tooth disease type 3//dejerine-sottas neuropathy//dejerine-sottas syndrome//dsn//dss//dejerine sottas disease//dejerine sottas neuropathy//dejerine sottas syndrome//dejerine-sottas disease//dejerine-sottas hypertrophic neuropathy//disease, dejerine-sottas//déjérine-sottas disease//hereditary motor and sensory neuropathy type iii//hmsn 3//hmsn iii//hmsn type iii//hmsn type iiis//hmsn3//hsmn iii//hereditary hypertrophic neuropathy//hereditary motor and sensory neuropathy 3//hereditary motor and sensory neuropathy type 3//hereditary motor and sensory neuropathy, type iii//hereditary sensory-motor neuropathy, type iii//hereditary, type iii, motor and sensory neuropathy//hypertrophic neuropathy of dejerine sottas//hypertrophic demyelinative neuropathy of infancy//hypertrophic hereditary neuropathy//hypertrophic neuropathy of dejerine-sottas//hypertrophic neuropathy of infancy//neuropathy, dejerine-sottas//progressive hypertrophic interstitial neuropathy//syndrome, dejerine-sottas	PRX;PMP22;EGR2;MPZ	PRX;PMP22;EGR2;MPZ	https://raresource.nih.gov/literature/disease/0009204	0009204	145900	64748	C0011195	C538392		periaxin;peripheral myelin protein 22;early growth response 2;myelin protein zero	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dejerine-Sottas syndrome"	0	0	1153
Hereditary motor and sensory neuropathy type 5	charcot-marie-tooth disease with pyramidal features, autosomal dominant//charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant//cmt with pyramidal features//charcot-marie-tooth disease - pyramidal features//charcot-marie-tooth disease-pyramidal features syndrome//hmsn 5//hmsn v//hmsn5//hereditary motor and sensory neuropathy 5//hereditary motor and sensory neuropathy type v//peroneal muscular atrophy with pyramidal features, autosomal dominant//hereditary motor and sensory neuropathy v//hereditary motor and sensory neuropathy type 5//hereditary motor and sensory neuropathy with pyramidal features	MFN2	MFN2	https://raresource.nih.gov/literature/disease/0009208	0009208	600361	64751				mitofusin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary motor and sensory neuropathy type 5"	0	0	7
Thiamine-responsive megaloblastic anemia syndrome	abboud syndrome//megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness//megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness//rogers syndrome//roger's disease//thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)//thiamine-responsive anemia syndrome//thiamine-responsive myelodysplasia//thmd1//trma//thiamine responsive megaloblastic anemia syndrome//thiamine responsive myelodysplasia//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 metabolism dysfunction syndrome 1//thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)//thiamine-responsive anaemia syndrome//thiamine-responsive megaloblastic anaemia syndrome//thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness//thiamine-responsive megaloblastic anemia syndrome; 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[]=Thiamine-responsive megaloblastic anemia syndrome"	0	0	821
Phocomelia, Schinzel type	aarrs//al-awadi/raas-rothschild syndrome//absence of ulna and fibula//absence of ulna and fibula with severe limb deficiency//al awadi rass rothschild syndrome//al awadi teebi farag syndrome//al awadi-raas-rothschild syndrome//al-awadi-raas-rothschild syndrome//al-awadi/raas-rothschild/schinzel phocomelia syndrome//aplasia/hypoplasia of limbs and pelvis//congenital absence of ulna and fibula//limb/pelvis-hypoplasia/aplasia syndrome//lphas//limb-pelvis hypoplasia-aplasia syndrome//limb-pelvis-hypoplasia-aplasia syndrome//schinzel phocomelia syndrome//schinzel type phocomelia//severe limb deficit//teebi naguib al awadi syndrome//ulna and fibula, absence of, with severe limb deficiency//ulna and fibula absence of with severe limb deficiency//phocomelia, schinzel type//profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence	WNT7A	WNT7A	https://raresource.nih.gov/literature/disease/0009212	0009212	276820	2879				Wnt family member 7A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phocomelia, Schinzel type"	0	0	25
Tarsal-carpal coalition syndrome	ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly//brachydactyly, type b2//deafness-symphalangism syndrome of herrmann//facioaudiosymphalangism syndrome//nog gene-related symphalangism spectrum disorder//nog-related-symphalangism spectrum disorder//synostosis of talus and calcaneus with short stature//stapes ankylosis syndrome without symphalangism//stapes ankylosis with broad thumb and toes//symphalangism-brachydactyly syndrome//synostoses, multiple, with brachydactyly//tcc//tarsal carpal coalition syndrome//tarsal-carpal coalition syndrome//teunissen-cremers syndrome//tarsal-carpal coalition syndrome; tcc	NOG	NOG	https://raresource.nih.gov/literature/disease/0009225	0009225	186570	1412	C1861305	C536943		noggin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tarsal-carpal coalition syndrome"	0	0	2371
Arnold-Chiari malformation type II	arnold-chiari malformation//arnold chiari malformation type ii//arnold-chiari malformation type 2//arnold-chiari syndrome, type ii//cm2//chiari malformation//chiari malformation type 2//chiari malformation type ii//chiari type ii malformation	FUZ	FUZ	https://raresource.nih.gov/literature/disease/0009232	0009232	207950	1136	C0003803			fuzzy planar cell polarity protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arnold-Chiari malformation type II"	0	0	1896
Arnold-Chiari malformation type I	arnold chiari malformation type iii//arnold-chiari malformation type 1//chiari malformation type 1//chiari malformation type 3//chiari malformation type i//chiari malformation type iii//chiari type iii malformation	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[]=Arnold-Chiari malformation type I"	0	0	792
Parkinson-dementia complex of Guam	als-pdc//amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam//amyotrophic lateral sclerosis, parkinsonism/dementia complex of guam//amyotrophic lateral sclerosis-parkinsonism/dementia complex 1//g-pdc//guam disease//guam parkinsonism-dementia complex//lytico-bodig disease//lytigo-bodig disease//pdals//parkinsonism-dementia-als complex//amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1//amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome	TRPM7;PARK7	TRPM7;PARK7	https://raresource.nih.gov/literature/disease/0009239	0009239	105500	90020	C0543859			transient receptor potential cation channel subfamily M member 7;Parkinsonism associated deglycase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinson-dementia complex of Guam"	0	0	79
Familial advanced sleep-phase syndrome	advanced sleep phase syndrome, familial//fasps//fasps1//familial advanced sleep phase syndrome//per2 advanced sleep phase syndrome//advanced sleep phase syndrome//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, 1//advanced sleep phase syndrome, familial, 1; fasps1//advanced sleep phase syndrome, familial, type 1//familial advanced sleep phase syndrome 1//familial advanced sleep-phase syndrome	PER2;PER3;CSNK1D	PER2;PER3;CSNK1D	https://raresource.nih.gov/literature/disease/0009242	0009242	616882	164736	C1858496			period circadian regulator 2;period circadian regulator 3;casein kinase 1 delta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial advanced sleep-phase syndrome"	0	0	86
Early infantile epileptic encephalopathy	dee10//developmental and epileptic encephalopathy 10//developmental and epileptic encephalopathy//eiee//eiee with burst-suppression//eiee10//epileptic encephalopathy, early infantile, 10//early infantile epileptic encephalopathy//early infantile epileptic encephalopathy with burst-suppression//early infantile epileptic encephalopathy with suppression bursts//early infantile epileptic encephalopathy with suppression-bursts//early infantile epileptic encephalopathy-10//mcsz//microcephaly - seizures - developmental delay//microcephaly, seizures and developmental delay//microcephaly, seizures, and developmental delay//os//ohtahara syndrome//early infantile epileptic encephalopathy 10//epileptic encephalopathy, early infantile//epileptic encephalopathy, early infantile, 15//epileptic encephalopathy, infantile//infantile epileptic encephalopathy//infantile spasm//microcephaly, seizures, and developmental delay; mcsz	SIK1;GRM7;GNAO1;PIGP;TRIM8;CASK;PIGQ;CDKL5;SCN1B;SCN2A;ARX;KCNA1;NEUROD2;PNKP;GRIN1;SLC25A22;DMXL2	SIK1;GRM7;GNAO1;PIGP;TRIM8;CASK;PIGQ;CDKL5;SCN1B;SCN2A;ARX;KCNA1;NEUROD2;PNKP;GRIN1;SLC25A22;DMXL2	https://raresource.nih.gov/literature/disease/0009255	0009255	617599	1934	C0393706			salt inducible kinase 1;glutamate metabotropic receptor 7;G protein subunit alpha o1;phosphatidylinositol glycan anchor biosynthesis class P;tripartite motif containing 8;calcium/calmodulin dependent serine protein kinase;phosphatidylinositol glycan anchor biosynthesis class Q;cyclin dependent kinase like 5;sodium voltage-gated channel beta subunit 1;sodium voltage-gated channel alpha subunit 2;aristaless related homeobox;potassium voltage-gated channel subfamily A member 1;neuronal differentiation 2;polynucleotide kinase 3'-phosphatase;glutamate ionotropic receptor NMDA type subunit 1;solute carrier family 25 member 22;Dmx like 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early infantile epileptic encephalopathy"	0	0	6471
Classic glucose transporter type 1 deficiency syndrome	classic glut1 deficiency syndrome//classic glut1-ds//de vivo disease//encephalopathy due to glut1 deficiency	SLC2A1	SLC2A1	https://raresource.nih.gov/literature/disease/0009265	0009265	606777	71277	C1847501			solute carrier family 2 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic glucose transporter type 1 deficiency syndrome"	0	0	5
Glomerulopathy with fibronectin deposits 1	fibronectin glomerulopathy//gfnd//gfnd1//gfnd2//glomerulopathy with giant fibrillar deposits//glomerular nephritis, familial, with fibronectin deposits//glomerulopathy with fibronectin deposits 2//glomerulopathy with fibronectin deposits 1//glomerulopathy with fibronectin deposits//lobular glomerulopathy, familial//glomerulopathy with fibronectin deposits 1; gfnd1	GFND1	GFND1	https://raresource.nih.gov/literature/disease/0009268	0009268		84090	C0403557			Glomerulopathy with fibronectin deposits 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glomerulopathy with fibronectin deposits 1"	0	0	51
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//cdb2//cdtb//corneal dystrophy of bowman layer, type ii//corneal dystrophy, honeycomb-shaped//corneal dystrophy thiel behnke type//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//corneal dystrophy of the bowman layer, type 2//curly fiber corneal dystrophy//honeycomb corneal dystrophy//tbcd//thiel-behnke corneal dystrophy//thiel behnke corneal dystrophy//waardenburg-jonker corneal dystrophy//corneal dystrophy of bowman layer, type 2//corneal dystrophy, thiel-behnke type//corneal dystrophy, thiel-behnke type; cdtb	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"	0	0	37
Reis-Bücklers corneal dystrophy	anterior limiting membrane dystrophy type 1//anterior limiting membrane dystrophy type i//atypical granular corneal dystrophy//cdb type i corneal dystrophy//cdb1//cdrb//corneal dystrophy of bowman layer, type i//corneal dystrophy, geographic//corneal dystrophy of bowman layer, type 1//corneal dystrophy reis bucklers type//corneal dystrophy geographic//corneal dystrophy of bowman layer type 1//corneal dystrophy of bowman layer type i//corneal dystrophy, reis-bucklers type//granular corneal dystrophy, type iii//geographic corneal dystrophy//granular corneal dystrophy type 3//granular corneal dystrophy type iii//rbcd//reis-bucklers corneal dystrophy//reis bucklers corneal dystrophy//reis bucklers dystrophy//reis-bucklers dystrophy//reis-bucklers' corneal dystrophy//superficial granular corneal dystrophy//corneal dystrophy, reis-bucklers type; cdrb//granular corneal dystrophy, type 3	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-Bücklers corneal dystrophy"	0	0	79
Schnyder corneal dystrophy	corneal dystrophy, crystalline, of schnyder//corneal dystrophy, schnyder//corneal dystrophy crystalline of schnyder//crystalline corneal dystrophy//crystalline stromal dystrophy//hereditary crystalline stromal dystrophy of schnyder//sccd//scd//schnyder crystalline corneal dystrophy//schnyder corneal dystrophy; sccd//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 corneal dystrophy"	0	0	13876
Granular corneal dystrophy type II	acd//avellino corneal dystrophy//cda//cgd2//combined granular-lattice corneal dystrophy//combined granular-lattice corneal dystrophies//corneal dystrophy, avellino type//corneal dystrophy avellino type//gcd2//gcdii//granular corneal dystrophy, type ii//granular and lattice corneal dystrophies//granular corneal dystrophy type 2//granular-lattice (avellino) corneal dystrophy//granular-lattice corneal dystrophy//corneal dystrophy, avellino type; cda//granular corneal dystrophy type ii//granular corneal dystrophy, type 2	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[]=Granular corneal dystrophy type II"	0	0	2765
Formiminoglutamic aciduria	arakawa syndrome 1//deficiency of glutamate formiminotransferase//deficiency of glutamate formyltransferase//figlu-uria//figluria//formiminoglutamic aciduria//formiminotransferase deficiency//ftcd deficiency//formiminoglutamic acidemia//formiminoglutamicaciduria (figlu-uria)//formiminotransferase cyclodeaminase deficiency//formiminotransferase deficiency syndrome//glutamate formiminotransferase deficiency	FTCD	FTCD	https://raresource.nih.gov/literature/disease/0009279	0009279	229100	51208	C0268609			formimidoyltransferase cyclodeaminase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Formiminoglutamic aciduria"	0	0	26
Familial atypical multiple mole melanoma syndrome	b-k mole syndrome//famm-pc syndrome//fammm syndrome//familial atypical mole syndrome//familial atypical multiple mole melanoma-pancreatic carcinoma syndrome//familial dysplastic nevus syndrome//melanoma-pancreatic cancer syndrome	CDKN2A	CDKN2A	https://raresource.nih.gov/literature/disease/0009281	0009281	606719	404560	C2314896			cyclin dependent kinase inhibitor 2A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial atypical multiple mole melanoma syndrome"	0	0	114
Ataxia-oculomotor apraxia type 1	aoa//aoa1//aoa1 (ataxia oculomotor apraxia type 1)//aptx oculomotor apraxia or related oculomotor disease//ataxia, adult-onset, with oculomotor apraxia//ataxia-oculomotor apraxia 1//ataxia-oculomotor apraxia syndrome//ataxia-telangiectasia-like syndrome//adult onset ataxia with oculomotor apraxia//ataxia oculomotor apraxia type 1//ataxia with oculomotor apraxia 1//ataxia with oculomotor apraxia type 1//ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia//autosomal recessive ataxia with oculomotor apraxia type 1//autosomal recessive cerebellar ataxia with oculomotor apraxia type 1//cerebellar ataxia, early-onset, with hypoalbuminemia//eaoh//eoca-ha//early-onset ataxia with ocular motor apraxia and hypoalbuminemia//early-onset ataxia with oculomotor apraxia and hypoalbuminemia//early-onset cerebellar ataxia with hypoalbuminemia//ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; eaoh//ataxia-oculomotor apraxia type 1//oculomotor apraxia or related oculomotor disease caused by mutation in aptx	APTX	APTX	https://raresource.nih.gov/literature/disease/0009283	0009283	208920	1168	C1859598			aprataxin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-oculomotor apraxia type 1"	0	0	252
Atelosteogenesis type I	ao1//aoi//atelosteogenesis//atelosteogenesis type 1//atelosteogenesis type i//atelosteogenesis, type i//giant cell chondrodysplasia//spondylohumerofemoral hypoplasia//spondylo-humero-femoral dysplasia//atelosteogenesis, type 1//atelosteogenesis, type i; ao1	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"	0	0	55
Thanatophoric dysplasia type 1	td1//thanatophoric dwarfism type 1	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0009295	0009295	187600	1860	C2931282			fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thanatophoric dysplasia type 1"	0	0	34
WHIM syndrome	warts, hypogammaglobulinemia, infections, and myelokathexis syndrome//warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1//whim - warts, hypogammaglobulinemia, infections and myelokathexis//whim syndrome 1//whim syndrome; whims//whims//whims1//wilm//warts, hypogammaglobulinemia, infections, and myelokathexis//warts-hypogammaglobulinemia-infections-myelokathexis//warts-hypogammaglobulinemia-infections-myelokathexis syndrome//warts-infections-leukopenia-myelokatexis//warts-infections-leukopenia-myelokatexis syndrome	CXCR4	CXCR4	https://raresource.nih.gov/literature/disease/0009297	0009297	193670	51636	C0472817	C536697		C-X-C motif chemokine receptor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=WHIM syndrome"	0	0	150
Pyridoxine-dependent epilepsy	antiquitin deficiency//vitamin b6-dependent seizures	SLC13A5;ALDH7A1;PLPBP	SLC13A5;ALDH7A1;PLPBP	https://raresource.nih.gov/literature/disease/0009298	0009298	617290	3006	C1291560	C536254		solute carrier family 13 member 5;aldehyde dehydrogenase 7 family member A1;pyridoxal phosphate binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyridoxine-dependent epilepsy"	0	0	213
Cholangiocarcinoma	bile duct cancer//bile duct cancers//bile duct neoplasm//cc//cca//cancer of bile duct//cancer of the bile duct//cancer, bile duct//cancers, bile duct//carcinoma, cholangiocellular//carcinomas, cholangiocellular//cholangiocar.- intra/extrahepatic//cholangiocarcinoma of biliary tract//cholangiocarcinoma, extrahepatic//cholangiocarcinoma, intrahepatic//cholangiocarcinomas//cholangiocarcinomas, extrahepatic//cholangiocarcinomas, intrahepatic//cholangiocellular carcinoma//cholangiocellular carcinomas//extrahepatic cholangiocarcinoma//extrahepatic cholangiocarcinomas//extrahepatic bile duct cancer//intrahepatic cholangiocarcinoma//intrahepatic cholangiocarcinomas//neoplasm, bile duct//neoplasms, bile duct//adult primary cholangiocarcinoma//adult primary cholangiocellular carcinoma//bile duct cancer (including cholangiocarcinoma)//bile duct carcinoma//carcinoma of bile duct//cholangiocarcinoma//cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)//cholangiocarcinoma, malignant//cholangiosarcoma//intrahepatic bile duct cancer (cholangiocarcinoma)	PTPN3;BRCA1;BRCA2	PTPN3;BRCA1;BRCA2	https://raresource.nih.gov/literature/disease/0009304	0009304	615619	70567	C0740277	D018281		protein tyrosine phosphatase non-receptor type 3;BRCA1 DNA repair associated;BRCA2 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholangiocarcinoma"	0	0	24090
Pediatric hepatocellular carcinoma	childhood carcinoma of liver cell//childhood hepatoma//childhood liver cell carcinoma//childhood hepatocellular carcinoma//childhood-onset hcc//childhood-onset hepatocellular carcinoma//pediatric carcinoma of liver cell//pediatric hcc//pediatric hepatocellular carcinoma//pediatric hepatoma//pediatric liver cell carcinoma//pediatric carcinoma of the liver cell//childhood carcinoma of the liver cell//hepatocellular cancer	MET;CTNNB1	MET;CTNNB1	https://raresource.nih.gov/literature/disease/0009331	0009331	114550	33402				MET proto-oncogene, receptor tyrosine kinase;catenin beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pediatric hepatocellular carcinoma"	0	0	2080
Small cell lung cancer	sclc	RB1;TP73;TP53	RB1;TP73;TP53	https://raresource.nih.gov/literature/disease/0009344	0009344	182280	70573	C0149925			RB transcriptional corepressor 1;tumor protein p73;tumor protein p53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Small cell lung cancer"	0	0	15512
X-linked cerebral adrenoleukodystrophy	x-cald	ABCD1	ABCD1	https://raresource.nih.gov/literature/disease/0009412	0009412	300100	139396				ATP binding cassette subfamily D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked cerebral adrenoleukodystrophy"	0	0	9
Pierson syndrome	lamb2-related infantile-onset nephrotic syndrome//microcoria-congenital nephrotic syndrome//microcoria - congenital nephrosis//microcoria - congenital nephrotic syndrome//microcoria and congenital nephrosis syndrome//microcoria and congenital nephrotic syndrome//microcoria-congenital nephrosis syndrome//nephrotic syndrome, type 5, with ocular abnormalities//nephrotic syndrome, type 5, without ocular abnormalities//nphs5//nephrotic syndrome, congenital, with ocular abnormalities and congenital myasthenic syndrome//piers//nephrotic syndrome, type 5, with or without ocular abnormalities//nephrotic syndrome, type 5, with or without ocular abnormalities; nphs5	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"	0	0	320
Thyroid carcinoma, hurthle cell	follicular thyroid cancer, hurthle cell type//hurthle cell thyroid neoplasia//hurthle cell carcinoma of the thyroid//hurthle cell thyroid cancer//thyroid cancer, hurthle cell//thyroid cancer, follicular, hurthle cell type//thyroid carcinoma, hurthle cell//oncocytic carcinoma of the thyroid	NDUFA13	NDUFA13	https://raresource.nih.gov/literature/disease/0009428	0009428			C0749424			NADH:ubiquinone oxidoreductase subunit A13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyroid carcinoma, hurthle cell"	0	0	32
Congenital thrombotic thrombocytopenic purpura	congenital adamts-13 deficiency//congenital ttp//familial ttp//microangiopathic hemolytic anemia//microangiopathic hemolytic anemia, congenital//schulman-upshaw syndrome//thrombotic microangiopathy, familial//thrombotic thrombocytopenic purpura, congenital//thrombotic thrombocytopenic purpura, familial//thrombotic thrombocytopenic purpura, hereditary, infantile- or adult-onset//ttp//ttp, congenital//upshaw factor, deficiency of//upshaw-schulman syndrome//uss//congenital adamts13 deficiency//congenital thrombotic thrombocytopenic purpura//hereditary thrombotic thrombocytopenic purpura//thrombotic thrombocytopenic purpura, congenital; 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[]=Congenital thrombotic thrombocytopenic purpura"	0	0	4235
Hermansky-pudlak syndrome 2	ap3b1 hermansky-pudlak syndrome//hps2//hermansky pudlak syndrome 2//hermansky-pudlak syndrome 2//hermansky-pudlak syndrome 2; hps2//hermansky-pudlak syndrome caused by mutation in ap3b1//hermansky-pudlak syndrome type 2//hermansky-pudlak syndrome with neutropenia//platelet defects and oculocutaneous albinism	AP3B1	AP3B1	https://raresource.nih.gov/literature/disease/0009435	0009435		183678	C1842362			adaptor related protein complex 3 subunit beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hermansky-pudlak syndrome 2"	0	0	36
Temple-Baraitser syndrome	mental retardation, severe, and absent nails of hallux and pollex//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//temple baraitser syndrome//temple-baraitser syndrome; tmbts//intellectual disability, severe, and absent nails of hallux and pollex//severe intellectual disability and absent nails of hallux and pollex	KCNH1	KCNH1	https://raresource.nih.gov/literature/disease/0009441	0009441	611816	420561	C2678486			potassium voltage-gated channel subfamily H member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Temple-Baraitser syndrome"	0	0	15
Glycogen storage disease due to glycogen debranching enzyme deficiency	agl deficiency//agl glycogen storage disease//amylo-1,6-glucosidase deficiency//amylo 1,6 glucosidase deficiency//amylo-1,6-glucosidase deficiencies//cori disease//cori's disease//cori-forbes disease//coris disease//debrancher deficiencies//debrancher deficiencies, glycogen//debrancher deficiency//debrancher deficiency, glycogen//debrancher deficiency glycogen storage disease//debrancher enzyme deficiency//deficiencies, amylo-1,6-glucosidase//deficiencies, debrancher//deficiencies, glycogen debrancher//deficiency of 6-alpha-d-glucosidase//deficiency of amylo-1,6-glucosidase//deficiency of dextrin//deficiency, amylo-1,6-glucosidase//deficiency, debrancher//deficiency, glycogen debrancher//dextrinoses, limit//dextrinosis, limit//disease, cori//disease, cori's//disease, forbes//forbes disease//gbe deficiency, childhood combined hepatic and myopathic form//gde deficiency//glycogen debrancher deficiency//glycogen storage disease iiia//glycogen storage disease iiib//glycogen storage disease iiic//glycogen storage disease iiid//gsd iii//gsd iiia//gsd iiib//gsd iiic//gsd iiid//gsd due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form//gsd due to glycogen debranching enzyme deficiency//gsd type 3//gsd type 4, childhood combined hepatic and myopathic form//gsd3//gsdiii//gsdiv, childhood combined hepatic and myopathic form//glycogen debrancher deficiencies//glycogen debranching enzyme deficiency//glycogen storage disease iii//glycogen storage disease type 3//glycogen storage disease type iii//glycogen storage disease type 4, childhood combined hepatic and myopathic form//glycogen storage disease type iv, childhood combined hepatic and myopathic form//glycogen storage disease, type iii//glycogen storage disease, type iii (disorder)//glycogenosis 3//glycogenosis 3s//glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form//glycogenosis due to glycogen debranching enzyme deficiency//glycogenosis type 3//glycogenosis type 4, childhood combined hepatic and myopathic form//glycogenosis type iii//glycogenosis type iv, childhood combined hepatic and myopathic form//limit dextrinosis//limit dextrinoses//limit dextrin - glycogen//deficiency of debranching enzyme//glycogen storage disease 3//glycogen storage disease iii; gsd3//glycogen storage disease caused by mutation in agl//glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form//glycogen storage disease due to glycogen debranching enzyme deficiency	AGL	AGL	https://raresource.nih.gov/literature/disease/0009442	0009442	232400	366	C0017922			amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to glycogen debranching enzyme deficiency"	0	0	295
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	dysplasia, saddan//dysplasias, saddan//saddan//saddan dysplasia//saddan dysplasias//saddans//ssb syndrome//severe achondroplasia with developmental delay and acanthosis nigricans//skeleton skin brain syndrome//skeleton-skin-brain syndrome//skeleton-skin-brain syndromes//syndrome, skeleton-skin-brain//syndromes, skeleton-skin-brain//achondroplasia, severe, with developmental delay and acanthosis nigricans//achondroplasia, severe, with developmental delay and acanthosis nigricans; saddan//severe achondroplasia-developmental delay-acanthosis nigricans syndrome	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"	0	0	21
Pilomatrixoma	benign follicular neoplasm//benign follicular tumor//benign hair follicle neoplasm//benign hair follicle tumor//benign pilomatricoma//benign pilomatrixoma//benign calcifying epithelioma//benign calcifying epithelioma of malherbe//calcifying epithelioma of malherbe//epithelioma calcificans of malherbe//malherbe calcifying epithelioma//pilomatricoma//ptr//pilomatricoma, benign//pilomatricoma, somatic//pilomatrixoma, benign//calcifying epitherlioma of malherbe//pilomatrixoma	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"	0	0	946
Andersen-Tawil syndrome	andersen syndrome//lqt7//long qt syndrome type 7	KCNJ5;KCNJ2	KCNJ5;KCNJ2	https://raresource.nih.gov/literature/disease/0009453	0009453	170390	37553	C1563715			potassium inwardly rectifying channel subfamily J member 5;potassium inwardly rectifying channel subfamily J member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Andersen-Tawil syndrome"	0	0	250
Joubert syndrome with oculorenal defect	arima syndrome//cerebrooculohepatorenal syndrome//coloboma, chorioretinal, with cerebellar vermis aplasia//cors//cerebello-oculo-renal syndrome//cerebellooculorenal syndrome//cerebro-oculo-hepato-renal syndrome//chorioretinal coloboma with cerebellar vermis aplasia//dekaban-arima syndrome//dekaban arima syndrome//joubert syndrome with bilateral chorioretinal coloboma//js type b//js-or//joubert syndrome 5//joubert syndrome with senior-loken syndrome//joubert syndrome with oculorenal anomalies	TMEM216;ZNF423;TMEM138;CEP290;CC2D2A;TMEM231;TMEM237	TMEM216;ZNF423;TMEM138;CEP290;CC2D2A;TMEM231;TMEM237	https://raresource.nih.gov/literature/disease/0009455	0009455	610188	2318	C1855675			transmembrane protein 216;zinc finger protein 423;transmembrane protein 138;centrosomal protein 290;coiled-coil and C2 domain containing 2A;transmembrane protein 231;transmembrane protein 237	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with oculorenal defect"	0	0	25
X-linked sideroblastic anemia	anemia, hereditary sideroblastic//anemia, hypochromic//anemia, sideroblastic, x-linked//anh1//anemia hereditary sideroblastic//anemia sex-linked hypochromic sideroblastic//anemia, sex-linked hypochromic sideroblastic//congenital sideroblastic anaemia//congenital sideroblastic anemia//erythroid 5-aminolevulinate synthase deficiency//hereditary iron-loading anemia//hereditary sideroblastic anemia//inherited sideroblastic anemia//sidba1//sideroblastic anemia x-linked//x chromosome-linked sideroblastic anemia//x-linked pyridoxine-responsive sideroblastic anemia//x-linked sideroblastic anaemia//xlsa//anemia, sideroblastic, 1//anemia, sideroblastic, 1; sidba1//anemia, sideroblastic, x-linked; xlsa//constitutional sideroblastic anemia//sideroblastic anaemia 1//sideroblastic anemia, x-linked	ALAS2	ALAS2	https://raresource.nih.gov/literature/disease/0009456	0009456	300751	75563		C536761		5'-aminolevulinate synthase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked sideroblastic anemia"	0	0	280
Isolated polycystic liver disease	ad polycystic liver disease//adpcld//adpld//autosomal dominant polycystic liver disease//congenital cystic disease of liver//congenital cystic liver//congenital polycystic disease of liver//congenital polycystic liver disease//cystic disease of liver//fibrocystic disease of liver//isolated autosomal dominant polycystic liver disease//pcld//pcld1//pld - polycystic liver disease//polycystic liver disease//congenital cystic liver disease//congenital hepatic cyst//fibrocystic liver disease//isolated congenital polycystic liver disease//isolated polycystic liver disease//nonsyndromic congenital polycystic liver disease//nonsyndromic polycystic liver disease (disease)//polycystic liver disease 1//polycystic liver disease 1 with or without kidney cysts//polycystic liver disease 1 with or without kidney cysts; pcld1//polycystic liver disease; pcld	PRKCSH;SEC63;LRP5	PRKCSH;SEC63;LRP5	https://raresource.nih.gov/literature/disease/0009457	0009457	174050	2924	C0158683	C536330		protein kinase C substrate 80K-H;SEC63 homolog, protein translocation regulator;LDL receptor related protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated polycystic liver disease"	0	0	772
Loeys-dietz syndrome 1	aat5//aortic aneurysm, familial thoracic 5//aortic aneurysm syndrome due to tgf-beta receptors anomalies//aortic aneurysm syndrome, loeys-dietz type//furlong syndrome//lds//lds1//loeys-dietz aortic aneurysm syndrome//loeys dietz aortic aneurysm syndrome//loeys dietz syndrome//loeys dietz syndrome, type 1a//loeys-dietz syndrome, type 1a//loeys-dietz syndrome 1//loeys-dietz syndrome 1; lds1//loeys-dietz syndrome caused by mutation in tgfbr1//loeys-dietz syndrome type 1//syndrome, loeys-dietz//tgfbr1 loeys-dietz syndrome//aortic aneurysm//familial thoracic 5//familial throacic aortic aneurysm 5	TGFBR1	TGFBR1	https://raresource.nih.gov/literature/disease/0009458	0009458			C1836635			transforming growth factor beta receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-dietz syndrome 1"	0	0	6949
Anaplastic oligodendroglioma	anaplastic oligodendroglioma, nos//anaplastic oligodendroglioma, not otherwise specified//anaplastic oligodendrogliomas//oligodendroglioma, anaplastic//oligodendrogliomas, anaplastic//who grade iii oligodendroglial neoplasm//who grade iii oligodendroglial tumor//anaplastic oligodendroglioma//malignant oligodendroglioma//oligodendroglioma, anaplastic, malignant//oligodendroglioma, malignant//undifferentiated oligodendroglioma	IDH2;POT1	IDH2;POT1	https://raresource.nih.gov/literature/disease/0009472	0009472	616568	251630	C0334590			isocitrate dehydrogenase (NADP(+)) 2;protection of telomeres 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anaplastic oligodendroglioma"	0	0	876
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	chromosome 16p13.3 deletion syndrome, distal//pkdts//polycystic kidney disease, infantile severe, with tuberous sclerosis//polycystic kidneys, severe infantile with tuberous sclerosis//tsc2/pkd1 contiguous gene syndrome//tuberous sclerosis/polycystic kidney disease contiguous gene syndrome//tuberous sclerosis polycystic kidney disease contiguous gene syndrome//tuberous sclerosis, polycystic kidney disease contiguous gene syndrome//tuberous sclerosis-polycystic kidney disease contiguous gene syndrome//autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis//polycystic kidney disease, infantile severe, with tuberous sclerosis; pkdts	TSC2;PKD1	TSC2;PKD1	https://raresource.nih.gov/literature/disease/0009481	0009481	600273	88924	C1838327			TSC complex subunit 2;polycystin 1, transient receptor potential channel interacting	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"	0	0	24
Glaucoma 1, open angle, a	1//glaucoma 1, open angle, l//glaucoma, primary open angle, juvenile-onset, 1//glc1a//glc1l//glaucoma//glaucoma 1, open angle, a//glaucoma hereditary, juvenile//glaucoma, dominant (juvenile onset)//joag1//joag1a//myoc juvenile glaucoma//myoc juvenile open angle glaucoma//primary open angle glaucoma juvenile onset 1//glaucoma 1, open angle, 50//glaucoma 1, open angle, a; glc1a//glaucoma 1, open angle, type a//juvenile glaucoma caused by mutation in myoc//juvenile open angle glaucoma caused by mutation in myoc//juvenile-onset//primary open angle	MYOC	MYOC	https://raresource.nih.gov/literature/disease/0009485	0009485			C1842028			myocilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glaucoma 1, open angle, a"	0	0	49429
Isolated congenital anosmia	anic//anosmia, congenital//anosmia, isolated congenital//congenital anosmia//anosmia, isolated congenital; anic	CNGA2;TENM1	CNGA2;TENM1	https://raresource.nih.gov/literature/disease/0009486	0009486	107200	88620	C0393778			cyclic nucleotide gated channel subunit alpha 2;teneurin transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital anosmia"	0	0	85
Isolated congenital breast hypoplasia/aplasia	amastia//amazia//athelia//absent breasts and nipples//bnah1//breasts and/or nipples, aplasia or hypoplasia of, 1//complete absence of breasts//isolated congenital amastia//breasts and/or nipples, aplasia or hypoplasia of, 1; bnah1	PTPRF	PTPRF	https://raresource.nih.gov/literature/disease/0009489	0009489	616001	180188	C0432357			protein tyrosine phosphatase receptor type F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital breast hypoplasia/aplasia"	0	0	64
Cataract 35	autosomal recessive nonsyndromic congenital nuclear cataract//congenital nuclear cataract, autosomal recessive	CTRCT35	CTRCT35	https://raresource.nih.gov/literature/disease/0009492	0009492			C1836272			Cataract 35	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 35"	0	0	None
GNE myopathy	dmrv//distal myopathy with rimmed vacuoles//distal myopathy//distal myopathy, nonaka type//gne myopathy//hibm//hibm2//hereditary inclusion body myopathy//hereditary inclusion body myopathy type 2//ibm2//ibm2, formerly//inclusion body myopathy 2, autosomal recessive, formerly//inclusion body myopathy, hereditary, autosomal recessive//inclusion body myopathy, quadriceps-sparing//inclusion body myopathy 2//inclusion body myopathy type 2//inclusion body myopathy, autosomal recessive//myopathy, distal, with or without rimmed vacuoles//myopathy, distal, with rimmed vacuoles//nm//nonaka distal myopathy//nonaka myopathy//nonaka myopathy; nm//nonaka type//qsm//quadriceps sparing myopathy//quadriceps-sparing myopathy//rimmed vacuole myopathy//inclusion body myopathy 2, autosomal recessive//inclusion body myopathy autosomal recessive	GNE	GNE	https://raresource.nih.gov/literature/disease/0009493	0009493	617158	602	C1833373	C536816		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GNE myopathy"	0	0	357
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	hibm3//hereditary inclusion body myopathy - joint contractures - ophthalmoplegia//hereditary inclusion body myopathy type 3//ibm3//inclusion body myopathy 3//inclusion body myopathy autosomal dominant//inclusion body myopathy type 3//myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles//hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	MYH2	MYH2	https://raresource.nih.gov/literature/disease/0009494	0009494	605637	79091				myosin heavy chain 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	0	0	2
Amelogenesis imperfecta, hypomaturation type, iia1	1//ai2a1//amelogenesis imperfecta, pigmented hypomaturation type, 1//amelogenesis imperfecta//amelogenesis imperfecta pigmented hypomaturation type//klk4 amelogenesis imperfecta//amelogenesis imperfecta caused by mutation in klk4//amelogenesis imperfecta pigmented hypomaturation type 1//amelogenesis imperfecta type iia1//amelogenesis imperfecta, hypomaturation type, iia1//amelogenesis imperfecta, hypomaturation type, iia1; ai2a1//pigmented hypomaturation type	KLK4	KLK4	https://raresource.nih.gov/literature/disease/0009495	0009495			C2673922			kallikrein related peptidase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, hypomaturation type, iia1"	0	0	2335
Hereditary renal hypouricemia	dalmatian hypouricemia//hypouricemia, renal, 1//hypouricemia, renal//renal hypouricemia//rhuc1//renal hypouricemia 1//hereditary renal hypouricemia//hypouricemia, renal 1//hypouricemia, renal, 1; rhuc1//hypouricemia, renal, type 1	SLC22A12;SLC2A9	SLC22A12;SLC2A9	https://raresource.nih.gov/literature/disease/0009496	0009496	242050	94088				solute carrier family 22 member 12;solute carrier family 2 member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary renal hypouricemia"	0	0	857
Aceruloplasminemia	ceruloplasmin deficiency//familial apoceruloplasmin deficiency//hemosiderosis, systemic, due to aceruloplasminemia//hypoceruloplasminemia//hereditary ceruloplasmin deficiency//hereditary hypoceruloplasminemia//systemic hemosiderosis due to aceruloplasminemia//aceruloplasminemia	CP	CP	https://raresource.nih.gov/literature/disease/0009499	0009499	604290	48818	C0878682	C536004		ceruloplasmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aceruloplasminemia"	0	0	169
Porokeratosis 4, disseminated superficial actinic type		POROK4	POROK4	https://raresource.nih.gov/literature/disease/0009504	0009504		79152	C1843180			Porokeratosis 4, disseminated superficial actinic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 4, disseminated superficial actinic type"	0	0	None
Porokeratosis 3, multiple types	1//dsap1//porok3//porokeratosis, disseminated superficial actinic, 1//porokeratosis//porokeratosis, disseminated superficial actinic 1//disseminated superficial actinic//porokeratosis 3, disseminated superficial actinic type//porokeratosis 3, disseminated superficial actinic type; porok3//porokeratosis 3, multiple types//porokeratosis 3, multiple types; porok3	MVK	MVK	https://raresource.nih.gov/literature/disease/0009505	0009505			C1867981			mevalonate kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Porokeratosis 3, multiple types"	0	0	1937
Cerulean cataract	blue-dot cataract//cca1//cataract, congenital, blue dot type, 1//cataract, congenital, cerulean type, 1//cataract, congenital, blue dot type 1//cataract, congenital, cerulean type 1//cerulean cataract	CRYBB2;CRYGD;MAF;MIP	CRYBB2;CRYGD;MAF;MIP	https://raresource.nih.gov/literature/disease/0009508	0009508	115660	98989	C0344523	C537955		crystallin beta B2;crystallin gamma D;MAF bZIP transcription factor;major intrinsic protein of lens fiber	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerulean cataract"	0	0	602
Bilateral multicystic dysplastic kidney	bilateral mcdk//bilateral multicystic dysplastic kidneys//bilateral multicystic renal dysplasia//cakut2//dysplasia, multicystic kidney//dysplasia, multicystic renal//dysplasias, multicystic kidney//dysplasias, multicystic renal//hydronephrosis due to pujo//kidney dysplasia, multicystic//kidney dysplasias, multicystic//mcdk//mckd - multicystic kidney disease//mcrd//mrd//multicystic dysplastic kidneys//multicystic kidney//multicystic kidney dysplasia//multicystic kidney dysplasias//multicystic kidneys//multicystic renal dysplasia//multicystic renal dysplasias//multicystic dysplastic kidney//multicystic renal dysplasia, bilateral//pujo//pelvi-ureteric junction obstruction//pelviureteric junction obstruction//renal dysplasia, multicystic//renal dysplasias, multicystic//tbx18 congenital anomaly of kidney and urinary tract//unilateral mcdk//unilateral multicystic dysplastic kidney//unilateral multicystic renal dysplasia//bilateral multicystic dysplastic kidney//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//ureteropelvic junction obstruction	HNF1B	HNF1B	https://raresource.nih.gov/literature/disease/0009517	0009517		97364	C1567427	C537373		HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral multicystic dysplastic kidney"	0	0	197
Familial cold urticaria	cold hypersensitivity//cold-induced autoinflammatory syndrome, familial//cold induced autoinflammatory syndrome, familial//cold urticaria, familial//cold urticarias, familial//fcas//fcas - familial cold autoinflammatory syndrome//fcas1//fcu//fcu - familial cold urticaria//familial cold induced autoinflammatory syndrome//familial cold urticarias//familial cold-induced autoinflammatory syndrome//familial cold autoinflammatory syndrome//familial polymorphous cold eruption//urticaria, familial cold//urticarias, familial cold//familial cold urticaria	NLRP3	NLRP3	https://raresource.nih.gov/literature/disease/0009535	0009535	120100	47045	C0343068			NLR family pyrin domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cold urticaria"	0	0	398
Autosomal dominant severe congenital neutropenia	neutropenia, severe congenital, 1, autosomal dominant//neutropenia, severe congenital, autosomal dominant 1//scn1//severe congenital neutropenia//severe congenital neutropenia autosomal dominant//autosomal dominant severe congenital neutropenia//neutropenia, severe congenital, 1, autosomal dominant; scn1//severe congenital neutropenia, autosomal dominant	ELANE;GFI1;CLPB;TCIRG1;SRP54	ELANE;GFI1;CLPB;TCIRG1;SRP54	https://raresource.nih.gov/literature/disease/0009558	0009558	618752	486				elastase, neutrophil expressed;growth factor independent 1 transcriptional repressor;caseinolytic mitochondrial matrix peptidase chaperone subunit B;T cell immune regulator 1, ATPase H+ transporting V0 subunit a3;signal recognition particle 54	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant severe congenital neutropenia"	0	0	303
Dermatofibrosarcoma protuberans	bednar tumor//bednar's tumor//bednars tumor//cell fibroblastoma, giant//cell fibroblastomas, giant//dfsp//dfsp - dermatofibrosarcoma protuberans//dfsp, fibrosarcomatous//dfsp, juvenile//dfsp, myxoid//dfsp, pigmented//dfsps, fibrosarcomatous//dfsps, juvenile//dfsps, myxoid//dfsps, pigmented//darier ferrand tumor//darier hoffmann tumor//darier-ferrand tumor//darier-hoffmann tumor//dermatofibrosarcoma//dermatofibrosarcoma protuberan//dermatofibrosarcoma protuberan, familial//dermatofibrosarcoma protuberan, fibrosarcomatous//dermatofibrosarcoma protuberan, giant//dermatofibrosarcoma protuberan, metastatic//dermatofibrosarcoma protuberan, myxoid//dermatofibrosarcoma protuberan, pigmented//dermatofibrosarcoma protuberans//dermatofibrosarcoma protuberans, familial//dermatofibrosarcoma protuberans, fibrosarcomatous//dermatofibrosarcoma protuberans, giant//dermatofibrosarcoma protuberans, giant cell//dermatofibrosarcoma protuberans, metastatic//dermatofibrosarcoma protuberans, myxoid//dermatofibrosarcoma protuberans, pigmented//dermatofibrosarcoma, no icd-o subtype//dermatofibrosarcoma, no international classification of diseases for oncology subtype//dermatofibrosarcomas//fs-dfsp//familial dermatofibrosarcoma protuberan//familial dermatofibrosarcoma protuberans//familial dermatofibrosarcoma protuberans (subtype)//fibroblastoma, giant cell//fibroblastomas, giant cell//fibrosarcomatous dfsp//fibrosarcomatous dfsps//fibrosarcomatous dermatofibrosarcoma protuberan//fibrosarcomatous dermatofibrosarcoma protuberans//giant cell fibroblastoma//giant cell fibroblastomas//giant dermatofibrosarcoma protuberan//giant dermatofibrosarcoma protuberans//juvenile dfsp//juvenile dfsps//metastatic dermatofibrosarcoma protuberan//metastatic dermatofibrosarcoma protuberans//metastatic dermatofibrosarcoma protuberans (subtype)//myxoid dfsp//myxoid dfsps//myxoid dermatofibrosarcoma protuberan//myxoid dermatofibrosarcoma protuberans//pigmented dfsp//pigmented dfsps//pigmented dermatofibrosarcoma protuberan//pigmented dermatofibrosarcoma protuberans//protuberan, dermatofibrosarcoma//protuberan, familial dermatofibrosarcoma//protuberan, fibrosarcomatous dermatofibrosarcoma//protuberan, giant dermatofibrosarcoma//protuberan, metastatic dermatofibrosarcoma//protuberan, myxoid dermatofibrosarcoma//protuberan, pigmented dermatofibrosarcoma//protuberans, dermatofibrosarcoma//protuberans, familial dermatofibrosarcoma//protuberans, fibrosarcomatous dermatofibrosarcoma//protuberans, giant dermatofibrosarcoma//protuberans, metastatic dermatofibrosarcoma//protuberans, myxoid dermatofibrosarcoma//protuberans, pigmented dermatofibrosarcoma//tumor, bednar//tumor, bednar's//tumor, darier-ferrand//tumor, darier-hoffmann//dermatofibrosarcoma protuberans; dfsp	PDGFB;COL1A1	PDGFB;COL1A1	https://raresource.nih.gov/literature/disease/0009569	0009569	607907	31112	C0392784	C538219		platelet derived growth factor subunit B;collagen type I alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dermatofibrosarcoma protuberans"	0	0	2227
Hereditary clear cell renal cell carcinoma	familial renal carcinoma//hereditary clear cell renal cell adenocarcinoma//hereditary renal cell carcinoma//hereditary renal carcinoma//hereditary renal cell cancer//hereditary renal cell carcinoma (disease)	RNF139;FLCN;DIRC3;HSPBAP1;SLC49A4;OGG1;FHIT	RNF139;FLCN;DIRC3;HSPBAP1;SLC49A4;OGG1;FHIT	https://raresource.nih.gov/literature/disease/0009571	0009571	144700	422526				ring finger protein 139;folliculin;disrupted in renal carcinoma 3;HSPB1 associated protein 1;solute carrier family 49 member 4;8-oxoguanine DNA glycosylase;fragile histidine triad diadenosine triphosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary clear cell renal cell carcinoma"	0	0	117
Papillary renal cell carcinoma	chromophil rcc//chromophil carcinoma of kidney//chromophil renal cell carcinoma//hprcc//prcc//papillary renal carcinoma, malignant//papillary renal carcinoma, malignant - (subtype)//papillary renal cell adenocarcinoma//papillary renal cell carcinoma, bilateral//papillary renal cell carcinoma, bilateral - (subtype)//papillary renal cell carcinoma, familial//papillary renal cell carcinoma, familial - (subtype)//papillary renal cell carcinoma, multiple//papillary renal cell carcinoma, multiple - (subtype)//papillary renal cell carcinoma, sporadic//papillary renal cell carcinoma, sporadic - (subtype)//rccp//rccp1//renal cell carcinoma, papillary//renal adenocarcinoma//sporadic papillary renal cell carcinoma//chromophil carcinoma of the kidney//papillary (chromophil) renal cell carcinoma//papillary kidney carcinoma//papillary renal cell cancer//papillary renal cell carcinoma//renal cell carcinoma, papillary, 1//renal cell carcinoma, papillary, 1; rccp1//renal cell carcinoma, papillary, type 1	MITF;MET	MITF;MET	https://raresource.nih.gov/literature/disease/0009572	0009572		47044	C1306837			melanocyte inducing transcription factor;MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Papillary renal cell carcinoma"	0	0	2310
Acute fatty liver of pregnancy	aflp//aflp - acute fatty liver of pregnancy//acute fatty liver, gestational//acute fatty liver of 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"	0	0	622
Autosomal recessive spastic paraplegia type 15	hereditary spastic paraparesis type 15//kjellin syndrome//recessive spastic paraplegia with retinal degeneration//spastic paraplegia 15, autosomal recessive//spastic paraplegia and retinal degeneration//spg15//spastic paraplegia - retinal degeneration//spastic paraplegia 15//spastic paraplegia, retinal degeneration syndrome//spastic paraplegia-retinal degeneration syndrome//zfyve26 autosomal recessive complex spastic paraplegia//autosomal recessive complex spastic paraplegia caused by mutation in zfyve26//autosomal recessive spastic paraplegia 15//autosomal recessive spastic paraplegia type 15//hereditary spastic paraplegia 15//hereditary spastic paraplegia type 15//spastic paraplegia 15, autosomal recessive; spg15	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[]=Autosomal recessive spastic paraplegia type 15"	0	0	51
Autosomal dominant spastic paraplegia type 9A	ad-spg9a//aldh18a1 autosomal dominant complex spastic paraplegia//autosomal dominant complex hsp//autosomal dominant complex spg//autosomal dominant complicated hsp//autosomal dominant complicated spg//autosomal dominant complicated spastic paraplegia//autosomal dominant spastic paraparesis//bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy//cataracts with motor neuronopathy, short stature, and skeletal abnormalities//cataracts motor neuropathy - short stature - skeletal anomalies//cataracts, motor neuronopathy, short stature and skeletal abnormalities//cataracts-motor neuropathy-short stature-skeletal anomalies syndrome//spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux//spastic paraplegia 9a, autosomal dominant//spg9//spg9a//spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux//spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome//spastic paraplegia 9//spastic paraplegia 9, autosomal dominant//autosomal dominant complex hereditary spastic paraplegia//autosomal dominant complex spastic paraplegia//autosomal dominant complex spastic paraplegia caused by mutation in aldh18a1//autosomal dominant complex spastic paraplegia type 9a//autosomal dominant spastic paraplegia 9a//autosomal dominant spastic paraplegia type 9//cataracts motor neuropathy-short stature-skeletal anomalies syndrome//cataracts with motor neuronopathy, short stature and skeletal abnormalities//complex hereditary spastic paraplegia, autosomal dominant//hereditary spastic paraplegia 9a//hereditary spastic paraplegia type 9a//spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux//spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux	FAR1;ALDH18A1	FAR1;ALDH18A1	https://raresource.nih.gov/literature/disease/0009583	0009583	601162	447753				fatty acyl-CoA reductase 1;aldehyde dehydrogenase 18 family member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant spastic paraplegia type 9A"	0	0	7
Autosomal dominant spastic paraplegia type 12	rtn2 hereditary spastic paraplegia//spastic paraplegia 12, autosomal dominant//spg12//spastic paraplegia 12//autosomal dominant spastic paraplegia 12//autosomal dominant spastic paraplegia type 12//hereditary spastic paraplegia 12//hereditary spastic paraplegia caused by mutation in rtn2//hereditary spastic paraplegia type 12//spastic paraplegia 12, autosomal dominant; spg12	UBAP1;RTN2	UBAP1;RTN2	https://raresource.nih.gov/literature/disease/0009586	0009586	604805	100993	C1858106	C537484		ubiquitin associated protein 1;reticulon 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant spastic paraplegia type 12"	0	0	2
Autosomal recessive spastic paraplegia type 26	gm2 synthase deficiency//spastic paraplegia 26, autosomal recessive//spg26//spastic paraplegia 26//autosomal recessive spastic paraplegia 26//autosomal recessive spastic paraplegia type 26//hereditary spastic paraplegia 26//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[]=Autosomal recessive spastic paraplegia type 26"	0	0	3
Autosomal dominant spastic paraplegia type 10	autosomal dominant spastic paraplegia//kif5a hereditary spastic paraplegia//spastic paraplegia 10 with or without peripheral neuropathy//spastic paraplegia 10 with peripheral neuropathy//spastic paraplegia 10, autosomal dominant//spg10//spastic paraplegia 10//autosomal dominant spastic paraplegia 10//autosomal dominant spastic paraplegia type 10//hereditary spastic paraplegia 10//hereditary spastic paraplegia caused by mutation in kif5a//hereditary spastic paraplegia type 10//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[]=Autosomal dominant spastic paraplegia type 10"	0	0	55
Autosomal dominant spastic paraplegia type 8	autosomal dominant spastic paraplegia 8//hereditary spastic paraplegia 8//spastic paraplegia 8, autosomal dominant//spg8//spastic paraplegia 8//spastic paraplegia type 8//spg 8//washc5 hereditary spastic paraplegia//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	WASHC5	https://raresource.nih.gov/literature/disease/0009591	0009591	603563	100989	C1863704	C536867		WASH complex subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant spastic paraplegia type 8"	0	0	14
Congenital atransferrinemia	atransferrinemia//congenital atransferrinaemia//congenital hypotransferrinemia//familial hypotransferrinemia//hypotransferrinemia, familial//tfqtl1//transferrin serum level quantitative trait locus 1//congenital atransferrinemia//hereditary atransferrinemia	TF	TF	https://raresource.nih.gov/literature/disease/0009595	0009595	209300	1195	C1859593	C538259		transferrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital atransferrinemia"	0	0	53
Familial paroxysmal ataxia	acetazolamide-responsive hereditary paroxysmal cerebellar ataxia//apca//ataxia, episodic, with nystagmus//ataxia, familial paroxysmal//acetazolamide-responsive episodic ataxia syndrome//acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia//ataxia, familial, paroxysmal//cacna1a hereditary episodic ataxia//capa//cerebellar ataxia, paroxysmal, acetazolamide-responsive//cerebellopathy, hereditary paroxysmal//ea2//episodic ataxia, nystagmus-associated//episodic ataxia type 2//episodic ataxia type 2 (ea2)//episodic ataxia with nystagmus//nystagmus-associated episodic ataxia//episodic ataxia, type 2//episodic ataxia, type 2; ea2//familial paroxysmal ataxia//hereditary episodic ataxia caused by mutation in cacna1a	CACNA1A	CACNA1A	https://raresource.nih.gov/literature/disease/0009602	0009602	108500	97	C1720416			calcium voltage-gated channel subunit alpha1 A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial paroxysmal ataxia"	0	0	569
Spinocerebellar ataxia type 13	autosomal dominant cerebellar ataxia with mental retardation//cerebellar ataxia, autosomal dominant with mental retardation//sca13//sca13 spinocerebellar ataxia 13//spinocerebellar ataxia type13//spinocerebellar ataxia 13//autosomal dominant cerebellar ataxia with intellectual disability//cerebellar ataxia, autosomal dominant with intellectual disability//spinocerebellar ataxia 13; sca13//spinocerebellar ataxia type 13	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"	0	0	35
Giant cell arteritis	aortic arteritis, giant cell//aortitides, giant cell//aortitis, giant cell//arteritides, cranial//arteritides, giant cell//arteritides, juvenile temporal//arteritides, temporal//arteritis cranialis//arteritis temporalis//arteritis, cranial//arteritis, giant cell//arteritis, giant cell, horton//arteritis, giant cell, horton's//arteritis, juvenile temporal//arteritis, temporal//cranial arteritis//cranial arteritides//gca//giant cell arteritis//giant cell aortic arteritis//giant cell aortitides//giant cell aortitis//giant cell aortitis, horton's//giant cell arteritides//giant cell arteritis, horton//giant cell arteritis (disorder)//giant cell arteritis nos (disorder)//horton disease//horton giant cell arteritis//horton's disease//horton's giant cell arteritis//horton's arteritis//horton's syndrome//horton's temporal arteritis//horton-gilmour disease//horton-magath-brown syndrome//hortons disease//horton’s disease//horton’s syndrome//hutchinson-horton-syndrome//juvenile temporal arteritides//juvenile temporal arteritis//polymyalgia rheumatica//ta - temporal arteritis//temporal arteritides//temporal arteritides, juvenile//temporal arteritis//temporal arteritis, juvenile//temporal arteritis (disorder)//temporal giant cell arteritis//temporal megacellular arteritis//inflammation of temporal artery//temporal artery inflammation	HLA-DRB1;PTPN22;P4HA2;HLA-B	HLA-DRB1;PTPN22;P4HA2;HLA-B	https://raresource.nih.gov/literature/disease/0009615	0009615	187360	397	C0039483	D013700		major histocompatibility complex, class II, DR beta 1;protein tyrosine phosphatase non-receptor type 22;prolyl 4-hydroxylase subunit alpha 2;major histocompatibility complex, class I, B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Giant cell arteritis"	0	0	10288
Autosomal dominant spastic paraplegia type 13	hspd1 hereditary spastic paraplegia//spastic paraplegia 13, autosomal dominant//spg13//spastic paraplegia 13//autosomal dominant spastic paraplegia 13//autosomal dominant spastic paraplegia type 13//hereditary spastic paraplegia 13//hereditary spastic paraplegia caused by mutation in hspd1//hereditary spastic paraplegia type 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[]=Autosomal dominant spastic paraplegia type 13"	0	0	4
Rapid-onset dystonia-parkinsonism	atp1a3 dystonic disorder//dystonia-parkinsonism, rapid-onset//dyt-atp1a3//dyt12//dyt12 - dystonia 12//dystonia 12//rdp//rapid onset dystonia parkinsonism//rapid-onset dystonia parkinsonism//rapid-onset dystonia-parkinsonism//dystonia 12; dyt12//dystonia type 12//dystonic disorder caused by mutation in atp1a3	ATP1A3	ATP1A3	https://raresource.nih.gov/literature/disease/0009628	0009628	128235	71517	C1868681			ATPase Na+/K+ transporting subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rapid-onset dystonia-parkinsonism"	0	0	134
Primary dystonia, DYT6 type	adolescent-onset dystonia of mixed type//dyt-thap1//dyt6//dystonia 6//generalized cervical and upper-limb-onset dystonia//idiopathic torsion dystonia of mixed type//thap1 dystonia//thap1 generalized isolated dystonia//torsion dystonia, adult-onset, mixed type//torsion dystonia adult onset mixed type//dystonia 6, torsion//dystonia 6, torsion; dyt6//generalized isolated dystonia caused by mutation in thap1//primary dystonia, dyt6 type//torsion dystonia 6//torsion dystonia type 6	THAP1	THAP1	https://raresource.nih.gov/literature/disease/0009630	0009630	602629	98806	C1414216			THAP domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary dystonia, DYT6 type"	0	0	79
Odontoleukodystrophy	4h syndrome//dentoleukoencephalopathy//hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism//hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome//leukodystrophy with oligodontia//polr3-related leukodystrophy//pol iii disorder//pol iii-related hypomyelinating leukodystrophies//pol iii-related leukodystrophy//ribonucleic acid polymerase iii-related leukodystrophy//odontoleukodystrophy	POLR3A	POLR3A	https://raresource.nih.gov/literature/disease/0009632	0009632	607694	77295	C3502054			RNA polymerase III subunit A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Odontoleukodystrophy"	0	0	54
Fetal akinesia deformation sequence	arthrogryposis multiplex congenita with pulmonary hypoplasia//arthrogryposis multiplex congenita - pulmonary hypoplasia//arthrogryposis multiplex congenita pulmonary hypoplasia//arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings//arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome//fads//fads1//fetal akinesia deformation sequence//fetal akinesia sequence//lethal pena-shokeir 1 syndrome//pena-shokeir syndrome, type i//pena-shokeir syndrome type 1//pena-shokeir syndrome, type 1//fetal akinesia deformation sequence; fads//foetal akinesia deformation sequence syndrome//foetal akinesia sequence	NUP88;DOK7;RAPSN;SLC18A3;MUSK;MYOD1	NUP88;DOK7;RAPSN;SLC18A3;MUSK;MYOD1	https://raresource.nih.gov/literature/disease/0009634	0009634	618393	994	C1276035			nucleoporin 88;docking protein 7;receptor associated protein of the synapse;solute carrier family 18 member A3;muscle associated receptor tyrosine kinase;myogenic differentiation 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fetal akinesia deformation sequence"	0	0	106
Autosomal agammaglobulinemia	agammaglobulinemia, autosomal recessive, due to ighm defect//agm//agm1//agammaglobulinemia//agammaglobulinemia due to early prob cell defect//agammaglobulinemia, non-bruton type, autosomal recessive//agammaglobulinemia, autosomal recessive//agammaglobulinemia, non-bruton type//agammaglobulinemia 1, autosomal recessive//agammaglobulinemia 1, autosomal recessive; agm1//autosomal agammaglobulinemia//non-bruton type	BLNK;LRRC8A;IGLL1;PIK3R1;IGHM;TCF3;CD79A;CD79B	BLNK;LRRC8A;IGLL1;PIK3R1;IGHM;TCF3;CD79A;CD79B	https://raresource.nih.gov/literature/disease/0009640	0009640	601495	33110	C1832241			B cell linker;leucine rich repeat containing 8 VRAC subunit A;immunoglobulin lambda like polypeptide 1;phosphoinositide-3-kinase regulatory subunit 1;immunoglobulin heavy constant mu;transcription factor 3;CD79a molecule;CD79b molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal agammaglobulinemia"	0	0	11
Parkinson disease 2, autosomal recessive juvenile	autosomal recessive juvenile parkinsonism//autosomal recessive juvenile parkinson disease//chromosome 6 linked autosomal recessive parkinsonism//chromosome 6-linked autosomal recessive parkinsonism//epdf//early-onset parkinson disease//familial parkinson disease, autosomal recessive//jp//juvenile parkinson disease, autosomal recessive//juvenile parkinsonism, autosomal recessive//juvenile parkinsonism//park2//parkinson disease, juvenile, autosomal recessive//parkinsonism, early-onset, with diurnal fluctuation//pdj//prkn young-onset parkinson disease//parkin type of early-onset parkinson disease//parkin type of juvenile parkinson disease//parkinson disease, familial, autosomal recessive//parkinson disease//parkinson disease 2//parkinson disease 2, autosomal recessive juvenile; park2//parkinson disease autosomal recessive, early onset//parkinsonism, juvenile, autosomal recessive//parkinsonism, early onset, with diurnal fluctuation//young-onset parkinson disease//autosomal recessive//autosomal recessive juvenile parkinson disease 2//autosomal recessive juvenile parkinson disease type 2//autosomal recessive juvenile parkinson's disease 2//early-onset//juvenile//parkinsonism//with diurnal fluctuation//young-onset parkinson disease caused by mutation in prkn	PRKN	PRKN	https://raresource.nih.gov/literature/disease/0009642	0009642			C1868675			parkin RBR E3 ubiquitin protein ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkinson disease 2, autosomal recessive juvenile"	0	0	27766
Pseudoxanthoma elasticum	gronblad strandberg syndrome//gronblad-strandberg-touraine syndrome//pxe//inherited gronblad strandberg syndrome//inherited pxe	ABCC6;ENPP1	ABCC6;ENPP1	https://raresource.nih.gov/literature/disease/0009643	0009643	177850	758	C0033847	D011561		ATP binding cassette subfamily C member 6;ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudoxanthoma elasticum"	0	0	1659
Gelatinous drop-like corneal dystrophy	amyloid corneal dystrophy, japanese type//amyloidosis, corneal//amyloid of cornea//amyloidosis corneal//cdgdl//corneal dystrophy, lattice type iii//corneal dystrophy, gelatinous drop-like//corneal amyloidosis//corneal dystrophy, lattice type 3//gdcd//gdld//gelatinous droplike corneal dystrophy//lattice corneal dystrophy, type iii//lattice corneal dystrophy type iii//lattice corneal dystrophy type3//primary familial amyloidosis of the cornea//subepithelial amyloidosis of the cornea//corneal dystrophy, gelatinous drop-like; gdld//gelatinous drop-like corneal dystrophy//lattice corneal dystrophy type 3//lattice corneal dystrophy, type 3	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 drop-like corneal dystrophy"	0	0	137
Achromatopsia 2	achm//achm2//achromatism//achromatopsia//achromatopsias//cnga3 achromatopsia//colorblindness, total//colorblindness//complete or incomplete color blindness//monochromatism//pingelapese blindness//rmch2//rod monochromacy 2//rod monochromatism 2//rod monochromacy//rod monochromatism//total color blindness//total colorblindness//achromatopsia 2//achromatopsia 2; achm2//achromatopsia caused by mutation in cnga3//achromatopsia type 2//complete or incomplete colour blindness//total//total colour blindness	CNGA3	CNGA3	https://raresource.nih.gov/literature/disease/0009649	0009649		49382	C1857618			cyclic nucleotide gated channel subunit alpha 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia 2"	0	0	9267
Achromatopsia 3	achm 3//achm1//achm1 (formerly)//achm1, formerly//achm3//achromatopsia with myopia//cngb3 achromatopsia//pingelapese blindness//pingelapese//rmch1//rmch1 (formerly)//rmch1, formerly//rod monochromacy 1//rod monochromacy 1, formerly//rod monochromatism 1//rod monochromatism 1, formerly//rod monochromacy 1 (formerly)//rod monochromatism 1 (formerly)//total colorblindness with myopia//achromatopsia 3//achromatopsia 3; achm3//achromatopsia caused by mutation in cngb3//achromatopsia type 3//formerly	CNGB3	CNGB3	https://raresource.nih.gov/literature/disease/0009650	0009650		49382	C1849792			cyclic nucleotide gated channel subunit beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Achromatopsia 3"	0	0	16
Anauxetic dysplasia	anauxetic dysplasia//anauxetic dysplasia 3; anxd3//anxd//anxd1//anxd2//anxd3//menger type//spondyloepimetaphyseal dysplasia, anauxetic type//spondylometaepiphyseal dysplasia, anauxetic type//spondylometaepiphyseal dysplasia, menger type//spondyloepimetaphyseal dysplasia//spondyloepimetaphyseal dysplasia menger type//spondyloepimetaphyseal dysplasia anauxetic type//spondyloepimetaphyseal dysplasia, menger type//spondylometaepiphyseal dysplasia anauxetic type//spondylometaepiphyseal dysplasia menger type//anauxetic dysplasia 1//anauxetic dysplasia 1; anxd1//anauxetic dysplasia 2; anxd2//anauxetic dysplasia 3//anauxetic dysplasia type 1//anauxetic type	NEPRO;RMRP;POP1	NEPRO;RMRP;POP1	https://raresource.nih.gov/literature/disease/0009657	0009657	607095	93347	C1846796	C538256		nucleolus and neural progenitor protein;RNA component of mitochondrial RNA processing endoribonuclease;POP1 homolog, ribonuclease P/MRP subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anauxetic dysplasia"	0	0	73
Bartter syndrome type 3	adult bartter syndrome//barts3//bartter syndrome, classic//bartter syndrome, type 3, with hypocalciuria//bartter disease type 3//bartter syndrome classic//bartter syndrome type iii//bartter syndrome, type 3//bartter syndrome, type 3; barts3//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 syndrome type 3"	0	0	61
Gynandroblastoma	gynandroblastoma of ovary//gynandroblastoma of the ovary//gynandroblastomas//ovarian gynandroblastoma	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0009665	0009665		99914	C0018413			dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gynandroblastoma"	0	0	76
Congenital factor XI deficiency	congenital factor xi deficiency disease//deficiencies, factor 11//deficiencies, factor eleven//deficiencies, factor xi//deficiency, factor 11//deficiency, factor eleven//deficiency, factor xi//f11 deficiency//factor 11 deficiencies//factor 11 deficiency//factor eleven deficiencies//factor eleven deficiency//factor xi deficiencies//factor xi deficiency//hemophilia c//hereditary factor xi deficiency disease//plasma thromboplastin antecedent deficiency//pta deficiency//plasma thromboplastin antecedent [pta] deficiency//rosenthal syndrome//rosenthal syndromes//rosenthal factor deficiency//rosenthal's syndrome//rosenthal's syndromes//rosenthal's disease//rosenthals syndrome//syndrome, rosenthal//syndrome, rosenthal's//thromboplastin antecedent deficiency//congenital factor xi deficiency//hereditary factor xi deficiency	F11	F11	https://raresource.nih.gov/literature/disease/0009670	0009670	612416	329	C0015523			coagulation factor XI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor XI deficiency"	0	0	594
Miyoshi myopathy	dysf miyoshi myopathy//miyoshi myopathy//miyoshi muscular dystrophy 1; mmd1//mm//mmd1//muscular dystrophy, distal, late-onset, autosomal recessive//miyoshi muscular dystrophy 1//miyoshi distal myopathy//miyoshi muscular dystrophy//miyoshi muscular dystrophy type 1//miyoshi myopathy 1//miyoshi myopathy caused by mutation in dysf//muscular dystrophy, distal, late onset, autosomal recessive	DYSF	DYSF	https://raresource.nih.gov/literature/disease/0009676	0009676	254130	45448	C1850808	C537480		dysferlin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Miyoshi myopathy"	0	0	20879
Granular corneal dystrophy type I	cdgg1//corneal dystrophy, punctate or nodular//classic gcd//classic granular corneal dystrophy//corneal dystrophy groenouw type i//corneal dystrophy granular type//corneal dystrophy punctate or nodular//gcd1//gcdi//granular corneal dystrophy, type i//granular corneal dystrophy type 1//groenouw corneal dystrophy type i//groenouw type i corneal dystrophy//corneal dystrophy, groenouw type 1//corneal dystrophy, groenouw type i//corneal dystrophy, groenouw type i; cdgg1//granular corneal dystrophy type i//granular corneal dystrophy, type 1	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009677	0009677	121900	98962	C1641846			transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Granular corneal dystrophy type I"	0	0	28
Lattice corneal dystrophy type I	biber-haab-dimmer dystrophy//cdl1//cdl1 corneal dystrophy, lattice type 1//classic lattice corneal dystrophy//corneal dystrophy, lattice type i//corneal dystrophy, lattice type 1//lattice corneal dystrophy, type i//lcd//lcd1//lcd1 lattice corneal dystrophy 1//lcdi//lattice corneal dystrophy type i//lattice corneal dystrophy type 1//corneal dystrophy, lattice type i; lcd1//lattice corneal dystrophy, type 1	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009678	0009678	608471	98964	C2931650	C537881		transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lattice corneal dystrophy type I"	0	0	294
Temtamy preaxial brachydactyly syndrome	mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies//preaxial brachydactyly syndrome, temtamy type//temtamy preaxial brachydactyly syndrome//temtamy preaxial brachydactyly syndrome; tpbs//tpbs//intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies	CHSY1	CHSY1	https://raresource.nih.gov/literature/disease/0009679	0009679	605282	363417	C1854466			chondroitin sulfate synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Temtamy preaxial brachydactyly syndrome"	0	0	7
RHYNS syndrome	retinitis pigmentosa syndrome//retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia//rhyns//rhyns (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome//retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia//retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome//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"	0	0	202
Chylomicron retention disease	andd//anderson disease//anderson syndrome//cmrd//crd//hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells//lipid transport defect of intestine//chylomicron retention disease//chylomicron retention disease; cmrd	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"	0	0	855
Meesmann corneal dystrophy	corneal dystrophy, juvenile epithelial, of meesmann//corneal dystrophy, meesmann epithelial//corneal dystrophy, meesmann, 1; mecd1//corneal dystrophy, meesmann, 2//corneal dystrophy, meesmann, 2; mecd2//corneal dystrophies, meesmann//corneal dystrophy, meesmann//corneal dystrophy, juvenile epithelial of meesmann//dystrophies, meesmann corneal//juvenile hereditary epithelial dystrophy//juvenile epithelial corneal dystrophy//juvenile hereditary epithelial dystrophy of meesmann//mecd//mecd1//mecd2//meesmann corneal dystrophy//meesman dystrophy//meesman's corneal dystrophy//meesman's epithelial corneal dystrophy//meesmann corneal dystrophies//meesmann corneal epithelial dystrophy//meesmann epithelial corneal dystrophy//stocker-holt dystrophy//corneal dystrophy, meesmann; mecd//juvenile epithelial of meesmann corneal dystrophy	KRT12;KRT3	KRT12;KRT3	https://raresource.nih.gov/literature/disease/0009688	0009688	618767	98954	C0339277	D053559		keratin 12;keratin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Meesmann corneal dystrophy"	0	0	127
Ring dermoid of cornea	bilateral, annular limbal dermoids with corneal and conjunctival extension//rdc//ring dermoid of cornea; rdc//ring dermoid syndrome//ring dermoid of cornea	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"	0	0	140
Monomelic amyotrophy	benign focal amyotrophy//hirayama disease//jmadue//juvenile muscular atrophy of distal upper extremity//juvenile muscular atrophy of distal upper extremity (jmadue)//juvenile muscular atrophy of distal upper limb//juvenile muscular atrophy of the distal upper limb//spinal muscular atrophy, juvenile, nonprogressive//spinal muscular atrophy juvenile nonprogressive//amyotrophy, monomelic//monomelic amyotrophy	CPLANE1;CEP126	CPLANE1;CEP126	https://raresource.nih.gov/literature/disease/0009697	0009697	602440	65684	C1865384	C538253		ciliogenesis and planar polarity effector complex subunit 1;centrosomal protein 126	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monomelic amyotrophy"	0	0	410
X-linked intellectual disability, Siderius type	intellectual developmental disorder, x-linked, syndromic, siderius type//intellectual deficit x-linked siderius type//mental retardation, x-linked, syndromic, siderius type//mrxssd//mental retardation, x-linked, siderius type//mental retardation x-linked siderius type//siderius-hamel syndrome//siderius hamel syndrome//siderius x-linked intellectual disability syndrome//siderius x-linked intellectual disability syndrome; mrxssd//siderius x-linked mental retardation syndrome//siderius x-linked mental retardation syndrome; mrxssd//x-linked intellectual disability hamel type//x-linked mental retardation hamel type//intellectual disability x-linked siderius type//intellectual disability syndrome, x-linked, siderius type//intellectual disability, x-linked, syndromic, siderius type//mental retardation syndrome, x-linked, siderius type//syndromic 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[]=X-linked intellectual disability, Siderius type"	0	0	1
Ectodermal dysplasia-skin fragility syndrome	dsp-related ectodermal dysplasia/skin fragility syndrome//edsfs//ectodermal dysplasia/skin fragility syndrome//ectodermal dysplasia - skin fragility syndrome//ectodermal dysplasia skin fragility syndrome//ectodermal dysplasia- skin fragility syndrome//epidermolysis bullosa simplex due to plakophilin deficiency//mcgrath syndrome//pkp1-related ectodermal dysplasia/skin fragility syndrome//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[]=Ectodermal dysplasia-skin fragility syndrome"	0	0	20
Snowflake vitreoretinal degeneration	snowflake vitreoretinal degeneration//svd//snowflake degeneration in hereditary vitreoretinal degeneration//snowflake retinal degeneration//vitreoretinal degeneration, snowflake type//vitreoretinal degeneration, snowflake type; 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"	0	0	1812
Lathosterolosis	3-beta-hydroxysteroid-delta(5)-desaturase deficiency//deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase//lathos//sc5d deficiency//sterol c5-desaturase deficiency//sterol c5 desaturase deficiency//lathosterolosis	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"	0	0	172
Griscelli syndrome type 3	gs3//griscelli syndrome, type 3//griscelli disease type 3//griscelli syndrome, type 3; gs3//griscelli-pruni??ras syndrome type 3//griscelli-prunic)ras syndrome type 3//griscelli-prunieras syndrome type 3//griscelli-pruniéras syndrome type 3//griscelli-pruni��ras syndrome type 3//hypomelanosis with no immunologic or neurologic manifestations	MLPH;MYO5A	MLPH;MYO5A	https://raresource.nih.gov/literature/disease/0009715	0009715	609227	79478	C1836573	C537303		melanophilin;myosin VA	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Griscelli syndrome type 3"	0	0	12
Deafness, autosomal dominant 17	cochleosaccular degeneration//dfna17//deafness, autosomal dominant nonsyndromic sensorineural 17//late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration//myh9 autosomal dominant nonsyndromic deafness//nonsyndromic hereditary deafness dfna17//autosomal dominant deafness 17//autosomal dominant nonsyndromic deafness caused by mutation in myh9//autosomal dominant nonsyndromic deafness type 17//deafness, autosomal dominant 17//deafness, autosomal dominant 17; dfna17//deafness, autosomal dominant type 17	MYH9	MYH9	https://raresource.nih.gov/literature/disease/0009726	0009726			C1863659			myosin heavy chain 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 17"	0	0	16
Proximal myotonic myopathy	cnbp myotonic dystrophy//dm2//dystrophia myotonica 2//disorder, myotonic//disorders, myotonic//dystrophia myotonica type 2//eulenburg disease//eulenburg's disease//myotonic myopathy, proximal//myopathies, myotonic//myopathy, myotonic//myotonia fluctuans//myotonic disorder//myotonic disorders//myotonic myopathies//myotonic myopathy//myotonic dystrophy type 2//promm//proximal myotonic myopathy//paralysis periodica paramyotonia//paramyotonia congenita//paramyotonia congenita without cold paralysis//paramyotonia congenita of von eulenberg//proximal myotonic dystrophy//ricker syndrome//ricker disease//von eulenberg disease//von eulenberg's disease//myotonic dystrophy 2//myotonic dystrophy 2; dm2//myotonic dystrophy caused by mutation in cnbp//myotonic syndrome	CNBP	CNBP	https://raresource.nih.gov/literature/disease/0009728	0009728	602668	606	C0752354	D020967		CCHC-type zinc finger nucleic acid binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal myotonic myopathy"	0	0	2694
Glycogen storage disease due to LAMP-2 deficiency	antopol disease//cardiomyopathies, glycogen storage//cardiomyopathy, glycogen storage//danon disease//disease, antopol//glycogen storage disease iib//gsd iib//gsd iib, formerly//gsd due to lamp-2 deficiency//gsd2b (formerly)//gsd2b, formerly//glycogen storage cardiomyopathies//glycogen storage cardiomyopathy//glycogen storage disease limited to the heart//glycogen storage disease type 2b//glycogen storage disease type iib//glycogen storage disease type 2b (formerly)//glycogenosis due to lamp-2 deficiency//lamp2 lysosomal glycogen storage disease//lysosomal glycogen storage disease without acid maltase deficiency//lysosomal glycogen storage disease without acid maltase deficiency, formerly//lysosomal glycogen storage disease with normal acid maltase//lysosomal glycogen storage disease with normal acid maltase activity//lysosomal glycogen storage disease without acid maltase deficiency (formerly)//pseudoglycogenosis ii//pseudoglycogenosis 2//pseudoglycogenosis 2s//pseudoglycogenosis iis//vacuolar cardiomyopathy and myopathy, x-linked//vacuolar cardiomyopathy and myopathy, x linked//vacuolar cardiomyopathy and myopathy x-linked//x linked vacuolar cardiomyopathy and myopathy//x-linked vacuolar cardiomyopathy and myopathy//glycogen storage disease due to lamp-2 deficiency//lysosomal glycogen storage disease caused by mutation in lamp2	LAMP2	LAMP2	https://raresource.nih.gov/literature/disease/0009730	0009730	300257	34587	C0878677			lysosomal associated membrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to LAMP-2 deficiency"	0	0	288
Epithelial basement membrane dystrophy	anterior basement membrane dystrophy//cogan corneal dystrophy//corneal dystrophy, anterior basement membrane//corneal dystrophy, map-dot-fingerprint type//corneal dystrophy, microcystic//cogan microcystic epithelial dystrophy//corneal dystrophy, cogan type//ebmd//epithelial basement membrane corneal dystrophy//map-dot-fingerprint dystrophy//map-dot-fingerprint dystrophy of cornea//microcystic dystrophy of the cornea//corneal dystrophy, epithelial basement membrane//corneal dystrophy, epithelial basement membrane; ebmd//epithelial basement membrane corneal dystrophy//epithelial basement membrane dystrophy//microcystic corneal dystrophy	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0009732	0009732	121820	98956	C0521723			transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epithelial basement membrane dystrophy"	0	0	131
Ichthyosis, congenital, autosomal recessive 4a	2//arci4a//ichthyosis congenita iib//ichthyosis, lamellar, 2, formerly//icr2b//ichthyosis congenita 2b//ichthyosis lamellar 2//ichthyosis, lamellar, 2//li2//li2, formerly//lamellar ichthyosis, type 2//type 2 lamellar ichthyosis//autosomal recessive congenital ichthyosis type 4a//formerly//ichthyosis//ichthyosis, congenital, autosomal recessive 4a//ichthyosis, congenital, autosomal recessive 4a; arci4a//ichthyosis, congenital, autosomal recessive type 4a//lamellar//lamellar ichthyosis 2	ABCA12	ABCA12	https://raresource.nih.gov/literature/disease/0009733	0009733			C1832550			ATP binding cassette subfamily A member 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, congenital, autosomal recessive 4a"	0	0	20221
Ichthyosis, congenital, autosomal recessive 5	3//arci5//ichthyosis congenita iii//ichthyosis, lamellar, 3, formerly//ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive//ichthyosis//ichthyosis congenita 3//ichthyosis lamellar 3//ichthyosis, lamellar, 3//li3, formerly//lamellar ichthyosis, type 3//nnci//type 3 lamellar ichthyosis//autosomal recessive//autosomal recessive congenital ichthyosis type 5//autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis//congenital//formerly//ichthyosis, congenital, autosomal recessive 5//ichthyosis, congenital, autosomal recessive 5; arci5//ichthyosis, congenital, autosomal recessive type 5//lamellar//nonlamellar and nonerythrodermic	CYP4F22	CYP4F22	https://raresource.nih.gov/literature/disease/0009734	0009734			C1858142			cytochrome P450 family 4 subfamily F member 22	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis, congenital, autosomal recessive 5"	0	0	6143
Congenital non-bullous ichthyosiform erythroderma	arci2//brocq congenital ichthyosiform erythroderma nonbullous form//cie//collodion baby, self-healing//congenital ichthyosiform erythroderma//erythrodermic ichthyosis//ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly//ichthyosiform erythroderma, nonbullous congenital, 1, formerly//ichthyosiform erythroderma, brocq congenital, nonbullous form//ichthyosiform erythroderma, congenital, nonbullous, 1//nbcie//ncie//ncie1//ncie1, formerly//non-bullous congenital ichthyosiform erythroderma//nonbullous congenital ichthyosiform erythroderma//autosomal recessive congenital ichthyosis type 2//ichthyosiform erythroderma, nonbullous congenital, 1//ichthyosis, congenital, autosomal recessive 2//ichthyosis, congenital, autosomal recessive 2; arci2//ichthyosis, congenital, autosomal recessive type 2//nonbullous congenital ichthyosiform erythroderma 1	ABCA12;TGM1;ALOXE3;CERS3;NIPAL4;PNPLA1;ALOX12B	ABCA12;TGM1;ALOXE3;CERS3;NIPAL4;PNPLA1;ALOX12B	https://raresource.nih.gov/literature/disease/0009736	0009736	615023	79394	C0079154			ATP binding cassette subfamily A member 12;transglutaminase 1;arachidonate lipoxygenase 3;ceramide synthase 3;NIPA like domain containing 4;patatin like phospholipase domain containing 1;arachidonate 12-lipoxygenase, 12R type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital non-bullous ichthyosiform erythroderma"	0	0	460
Epidermolysis bullosa simplex with mottled pigmentation	ebs with mottled pigmentation//ebs-mp//ebs2f//ebsmp//epidermolysis bullosa simplex 2f, with mottled pigmentation//epidermolysis bullosa simplex-mp//speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering//simple epidermolysis bullosa with mottled pigmentation//speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering//epidermolysis bullosa simplex with mottled pigmentation//epidermolysis bullosa simplex with mottled pigmentation; ebsmp	KRT5;KRT14	KRT5;KRT14	https://raresource.nih.gov/literature/disease/0009737	0009737	131960	79397	C0432316	C535959		keratin 5;keratin 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epidermolysis bullosa simplex with mottled pigmentation"	0	0	15
Familial atrial fibrillation	atfb//atfb1//atrial fibrillation, autosomal dominant//atrial fibrillation, familial, 1//atrial fibrillation autosomal dominant//atrial fibrillation, familial//atrial fibrillation, familial 1//autosomal dominant atrial fibrillation//atrial fibrillation, familial, 1; atfb1//familial atrial fibrillation//hereditary atrial fibrillation (disease)	SCN5A;SCN3B;GATA5;SCN4B;KCNE1;SCN2B;PITX2;NUP155;NPPA;MYL4;KCNQ1;KCNJ2;KCNE2;SCN1B;KCNA5;ABCC9;GJA5;GATA6;GATA4;NKX2-6;NKX2-5;TTN	SCN5A;SCN3B;GATA5;SCN4B;KCNE1;SCN2B;PITX2;NUP155;NPPA;MYL4;KCNQ1;KCNJ2;KCNE2;SCN1B;KCNA5;ABCC9;GJA5;GATA6;GATA4;NKX2-6;NKX2-5;TTN	https://raresource.nih.gov/literature/disease/0009740	0009740	612201	334				sodium voltage-gated channel alpha subunit 5;sodium voltage-gated channel beta subunit 3;GATA binding protein 5;sodium voltage-gated channel beta subunit 4;potassium voltage-gated channel subfamily E regulatory subunit 1;sodium voltage-gated channel beta subunit 2;paired like homeodomain 2;nucleoporin 155;natriuretic peptide A;myosin light chain 4;potassium voltage-gated channel subfamily Q member 1;potassium inwardly rectifying channel subfamily J member 2;potassium voltage-gated channel subfamily E regulatory subunit 2;sodium voltage-gated channel beta subunit 1;potassium voltage-gated channel subfamily A member 5;ATP binding cassette subfamily C member 9;gap junction protein alpha 5;GATA binding protein 6;GATA binding protein 4;NK2 homeobox 6;NK2 homeobox 5;titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial atrial fibrillation"	0	0	116
Neurological conditions associated with aminoacylase 1 deficiency	acy1 deficiency//acy1d//aminoacylase 1 deficiency//deficiency of aminoacylase 1//deficiency of the aminoacylase-1 enzyme//n-acyl-l-amino acid amidohydrolase deficiency//aminoacylase 1 deficiency; acy1d//neurological conditions associated with aminoacylase 1 deficiency	ACY1	ACY1	https://raresource.nih.gov/literature/disease/0009741	0009741	609924	137754	C1835922			aminoacylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurological conditions associated with aminoacylase 1 deficiency"	0	0	16
Atrophoderma vermiculata	atrophodermia reticulata symmetrica faciei//atrophodermia vermiculata//ava//atrophoderma vermiculatum//atrophodermia reticulata//folliculitis ulerythematosa reticulata//folliculitis ulerythematosa//folliculitis ulerythematosa reticulate//honeycomb atrophy//atrophoderma vermiculata//atrophoderma vermiculata; ava	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 vermiculata"	0	0	76
Limited systemic sclerosis	progressive systemic sclerosis sine scleroderma//ssc without skin involvement//scleroderma, sine//systemic sclerosis sine scleroderma//systemic sclerosis without skin thickening//limited systemic sclerosis//systemic sclerosis without skin involvement	HLA-DRB1	HLA-DRB1	https://raresource.nih.gov/literature/disease/0009749	0009749		220407	C1290138			major histocompatibility complex, class II, DR beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Limited systemic sclerosis"	0	0	139
Diffuse cutaneous systemic sclerosis	dcssc//diffuse cutaneous systemic scleroderma//progressive cutaneous systemic scleroderma//progressive cutaneous systemic sclerosis//dssc	CCN2;IRF5;CAV1;CCR6;HLA-DRB1	CCN2;IRF5;CAV1;CCR6;HLA-DRB1	https://raresource.nih.gov/literature/disease/0009751	0009751		220393				cellular communication network factor 2;interferon regulatory factor 5;caveolin 1;C-C motif chemokine receptor 6;major histocompatibility complex, class II, DR beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diffuse cutaneous systemic sclerosis"	0	0	950
Familial hypocalciuric hypercalcemia type 2	familial benign hypercalcemia, type ii//fbh2//fhh type 2//familial benign hypercalcemia, type 2//hhc2//hypercalcemia, familial benign, type ii//hypercalcemia, familial benign type 2//hypocalciuric hypercalcemia, familial, type ii//hypocalciuric hypercalcemia, familial, type 2//familial hypocalciuric hypercalcemia 2//familial hypocalciuric hypercalcemia type 2//hypercalcemia, familial benign, type 2//hypocalciuric hypercalcemia type ii//hypocalciuric hypercalcemia, familial, type ii; hhc2	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 type 2"	0	0	24
Leukonychia totalis	gorlin bushkell jensen syndrome//hereditary white nails//leukonychia totalis and/or partialis//ndnc3//nail disorder, nonsyndromic congenital, 3//plcd1 inherited isolated nail anomaly//porcelain nails//total leukonychia//inherited isolated nail anomaly caused by mutation in plcd1//leukonychia striatus//leukonychia punctata//leukonychia totalis//leukonychia totalis multiple sebaceous cysts renal calculi//nail disorder, nonsyndromic congenital, type 3//nonsyndromic congenital nail disorder 3//nonsyndromic congenital nail disorder type 3	PLCD1	PLCD1	https://raresource.nih.gov/literature/disease/0009759	0009759	151600	2387	C0544855	C535889		phospholipase C delta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukonychia totalis"	0	0	34
Potocki-Shaffer syndrome	11p11.2 deletion//chromosome 11p11.2 deletion syndrome//defect11 syndrome//defect 11 syndrome//deletion of chromosome 11p11.2//exostoses, multiple, type ii//p11pds//p11pds - proximal 11p deletion syndrome//proximal 11p deletion syndrome//pss	EXT2;ALX4;PHF21A	EXT2;ALX4;PHF21A	https://raresource.nih.gov/literature/disease/0009762	0009762	601224	52022	C1832588	C538356		exostosin glycosyltransferase 2;ALX homeobox 4;PHD finger protein 21A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Potocki-Shaffer syndrome"	0	0	3972
Oligoastrocytoma	moa//mixed oligodendroglioma astrocytoma//mixed oligodendroglioma-astrocytomas//mixed oligoastrocytoma//oligoastrocytoma, nos//oligoastrocytoma, not otherwise specified//oligodendroglioma-astrocytoma, mixed//oligodendroglioma-astrocytomas, mixed//who grade ii mixed glioma//glioma, mixed, benign//mixed astrocytic-oligodendroglial neoplasm//mixed astrocytic-oligodendroglial tumor//mixed astrocytoma-oligodendroglioma//mixed oligo-astrocytoma//mixed oligodendroglioma-astrocytoma//oligoastrocytoma	IDH2	IDH2	https://raresource.nih.gov/literature/disease/0009769	0009769		251656	C0280793			isocitrate dehydrogenase (NADP(+)) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oligoastrocytoma"	0	0	417
Dowling-Degos disease	ddd//ddd1//dowling-degos kitamura disease//dowling-degos disease 1//dowling-degos disease 1; ddd1//dowling-degos disease caused by mutation in krt5//dowling-degos disease type 1//dowling-degos-kitamura disease//krt5 dowling-degos disease//kitamura reticulate acropigmentation//reticular pigment anomaly of flexures//reticulate acropigmentation of kitamura//dark dot disease	POFUT1;POGLUT1;KRT5;PSENEN	POFUT1;POGLUT1;KRT5;PSENEN	https://raresource.nih.gov/literature/disease/0009775	0009775	615674	79145	C3714534			protein O-fucosyltransferase 1;protein O-glucosyltransferase 1;keratin 5;presenilin enhancer, gamma-secretase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dowling-Degos disease"	0	0	983
Proximal Xq28 duplication syndrome	distal duplication xq//lubs x-linked intellectual disability syndrome//lubs x-linked intellectual disability syndrome (formerly)//lubs x-linked intellectual disability syndrome; mrxsl//lubs x-linked mental retardation syndrome//lubs x-linked mental retardation syndrome (formerly)//lubs x-linked mental retardation syndrome; mrxsl//lubs type//mecp2 duplication syndrome//mrxsl//mental retardation, x-linked, with recurrent respiratory infections//mental retardation, x-linked, lubs type//mental retardation, x-linked, lubs type (formerly)//telomeric duplication xq//trisomy xq28//x-linked intellectual disability syndrome//x-linked intellectual disability syndrome, lubs type//x-linked intellectual disability-hypotonia-recurrent infections syndrome//xlmr syndrome, lubs type//intellectual disability, x-linked, lubs type (formerly)//intellectual disability, x-linked, syndromic, lubs type//intellectual disability, x-linked, with recurrent respiratory infections//mental retardation, x-linked, syndromic, lubs type//syndromic x-linked intellectual disability lubs type	MECP2	MECP2	https://raresource.nih.gov/literature/disease/0009781	0009781	300260	1762	C3714043	C537723		methyl-CpG binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal Xq28 duplication syndrome"	0	0	183
Parkes Weber syndrome	capillary malformation-arteriovenous malformation//capillary malformation-arteriovenous malformation 1; cmavm1//cm-avm//cm-avm syndrome//cmavm//cmavm1//capillary malformation without arteriovenous malformation//capillary malformation-arteriovenous malformation syndrome//cm-avm capillary malformation-arteriovenous malformation syndrome//cmavm capillary malformation arteriovenous malformation syndrome//cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb//parkes weber syndrome; pkws//pkws//parkes weber syndrome, rasa1-related//capillary malformation-arteriovenous malformation; cmavm	RASA1	RASA1	https://raresource.nih.gov/literature/disease/0009787	0009787	608354	90307	C0038505			RAS p21 protein activator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Parkes Weber syndrome"	0	0	230
Epiphyseal dysplasia, multiple, 3	col9a3 multiple epiphyseal dysplasia (disease)//col9a3-related multiple epiphyseal dysplasia//edm3//epiphyseal dysplasia, multiple, 3, with myopathy//epiphyseal dysplasia multiple 3//multiple epiphyseal dysplasia 3//epiphyseal dysplasia, multiple, 3//epiphyseal dysplasia, multiple, 3; edm3//epiphyseal dysplasia, multiple, type 3//multiple epiphyseal dysplasia (disease) caused by mutation in col9a3//multiple epiphyseal dysplasia 3 with or without myopathy	COL9A3	COL9A3	https://raresource.nih.gov/literature/disease/0009792	0009792			C1832998			collagen type IX alpha 3 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epiphyseal dysplasia, multiple, 3"	0	0	1
Multiple epiphyseal dysplasia type 4	autosomal recessive multiple epiphyseal dysplasia//edm4//epiphyseal dysplasia multiple 4//med4//multiple epiphyseal dysplasia with bilayered patellae//multiple epiphyseal dysplasia with clubfoot//multiple epiphyseal dysplasia, autosomal recessive//multiple epiphyseal dysplasia, recessive//multiple epiphyseal dysplasia 4//multiple epiphyseal dysplasia with double-layered patella//polyepiphyseal dysplasia type 4//slc26a2 multiple epiphyseal dysplasia (disease)//epiphyseal dysplasia, multiple, 4//epiphyseal dysplasia, multiple, 4; edm4//epiphyseal dysplasia, multiple, type 4//multiple epiphyseal dysplasia (disease) caused by mutation in slc26a2//multiple epiphyseal dysplasia type 4//multiple epiphyseal dysplasia with bilateral patellae//rmed	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"	0	0	20
Multiple epiphyseal dysplasia type 5	bhmed//bilateral hereditary micro-epiphyseal dysplasia//edm5//epiphyseal dysplasia multiple 5//matn3 multiple epiphyseal dysplasia (disease)//med5//microepiphyseal dysplasia, bilateral hereditary//multiple epiphyseal dysplasia, matn3-related//multiple epiphyseal dysplasia 5//multiple epiphyseal dysplasia, matn3 related//polyepiphyseal dysplasia type 5//bilateral hereditary microepiphyseal dysplasia//epiphyseal dysplasia, multiple, 5//epiphyseal dysplasia, multiple, 5; edm5//epiphyseal dysplasia, multiple, type 5//multiple epiphyseal dysplasia (disease) caused by mutation in matn3//multiple epiphyseal dysplasia matn3-related//multiple epiphyseal 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"	0	0	6
Naxos disease	arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant//cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities//keratosis palmoplantaris with arrhythmogenic cardiomyopathy//kwwh type i//keratoderma with woolly hair type i//keratoderma with wooly hair type i//keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome//keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair//keratosis palmoplantaris with arrythmogenic cardiomyopathy//mal de naxos//naxos disease; nxd//nxd//palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair//palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy//palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy//palmoplantar keratoderma with arrythmogenic cardiomyopathy//woolly hair, palmoplantar keratoderma, and cardiac abnormalities//woolly hair palmoplantar keratoderma 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"	0	0	76
Autoimmune lymphoproliferative syndrome with recurrent viral infections	alps with recurrent viral infections//alps2b//autoimmune lymphoproliferative syndrome, type iib//autoimmune lymphoproliferative syndrome type 2b//casp8 autoimmune lymphoproliferative syndrome//ceds//caspase 8 deficiency//caspase 8 deficiency syndrome//caspase eight deficiency state//caspase-8 deficiency//autoimmune lymphoproliferative syndrome caused by mutation in casp8//autoimmune lymphoproliferative syndrome type iib//autoimmune lymphoproliferative syndrome with recurrent viral infections//autoimmune lymphoproliferative syndrome, type 2b	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 with recurrent viral infections"	0	0	92
Auriculocondylar syndrome	arcnd1//auriculo-condylar syndrome//auriculocondylar syndrome 1//ears prominent and constricted//question mark ears syndrome//question mark ear//question mark ear syndrome//question-mark ear syndrome//auriculocondylar syndrome//dysgnathia complex	PLCB4;EDN1;GNAI3	PLCB4;EDN1;GNAI3	https://raresource.nih.gov/literature/disease/0009798	0009798	614669	137888	C1865295	C538270		phospholipase C beta 4;endothelin 1;G protein subunit alpha i3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Auriculocondylar syndrome"	0	0	57
Progressive familial intrahepatic cholestasis type 1	byler disease//byler's disease//cholestasis, benign recurrent intrahepatic, 1//cholestasis, progressive familial intrahepatic, 1//cholestasis, benign recurrent intrahepatic 1//cholestasis, fatal intrahepatic//fic1 deficiency//pfic1//pfic1 progressive familial intrahepatic cholestasis type 1//progressive familial intrahepatic cholestasis//progressive familial intrahepatic cholestasis 1//progressive familial intrahepatic cholestasis type 1 (pfic 1)//progressive familial intrahepatic cholestasis type 1 (pfic1)//severe atp8b1 deficiency//summerskill syndrome//cholestasis, progressive familial intrahepatic, 1; pfic1//cholestasis, progressive familial intrahepatic, type 1//progressive familial intrahepatic cholestasis type 1	ATP8B1;MYO5B	ATP8B1;MYO5B	https://raresource.nih.gov/literature/disease/0009802	0009802	211600	79306		C535933		ATPase phospholipid transporting 8B1;myosin VB	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial intrahepatic cholestasis type 1"	0	0	529
Progressive familial intrahepatic cholestasis type 4	3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency//pfic4//pfic4 progressive familial intrahepatic cholestasis type 4//progressive familial intrahepatic cholestasis 4//progressive familial intrahepatic cholestasis-4//tjp2 deficit//tjp2 progressive familial intrahepatic cholestasis//cholestasis, progressive familial intrahepatic 4//cholestasis, progressive familial intrahepatic, 4//cholestasis, progressive familial intrahepatic, 4; pfic4//cholestasis, progressive familial intrahepatic, type 4//progressive familial intrahepatic cholestasis caused by mutation in tjp2//progressive familial intrahepatic cholestasis type 4	TJP2	TJP2	https://raresource.nih.gov/literature/disease/0009803	0009803	615878	480483				tight junction protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive familial intrahepatic cholestasis type 4"	0	0	6
Intrahepatic cholestasis of pregnancy	bile duct obstruction, intrahepatic//biliary stases, intrahepatic//biliary stasis, intrahepatic//cholestases, intrahepatic//cholestasis, intrahepatic//cholestasis, intrahepatic, of pregnancy//cholestasis, pregnancy-related//cholestasis, intrahepatic of pregnancy//familial intrahepatic cholestasis of pregnancy//familial recurrent intrahepatic cholestasis of pregnancy//gravidic intrahepatic cholestasis//icp//impaired release of bile from liver//intrahepatic biliary stases//intrahepatic biliary stasis//intrahepatic cholestases//intrahepatic cholestasis//obstetric cholestasis//pregnancy related cholestasis//pregnancy-related cholestasis//ricp//recurrent intrahepatic cholestasis of pregnancy//intrahepatic cholestasis of pregnancy//neonatal intrahepatic cholestasis	ABCB4;ATP8B1;NR1H4;ABCB11	ABCB4;ATP8B1;NR1H4;ABCB11	https://raresource.nih.gov/literature/disease/0009804	0009804	147480	69665		C535932		ATP binding cassette subfamily B member 4;ATPase phospholipid transporting 8B1;nuclear receptor subfamily 1 group H member 4;ATP binding cassette subfamily B member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intrahepatic cholestasis of pregnancy"	0	0	3416
Vibratory urticaria	angioedema, vibratory//vbu//vibratory angioedema//vibratory urticaria	ADGRE2	ADGRE2	https://raresource.nih.gov/literature/disease/0009806	0009806	125630	493342				adhesion G protein-coupled receptor E2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vibratory urticaria"	0	0	34
T-cell large granular lymphocyte leukemia	aggressive nk cell leukemia//aggressive natural killer cell leukemia//granular lymphocytoses, large//granular lymphocytosis, large//lgl leukemia//lgl leukemias//lgll//lgll - large granular lymphocytic leukemia//large cell granular lymphogenous leukemia//large granular lymphocyte leukemia//large granular lymphocytoses//large granular lymphocytosis//large granular lymphocytic leukaemia//large granular lymphocytic leukemia//leukemia, lgl//leukemia, large granular lymphocytic//leukemia, lymphocytic, large granular//leukemia, nk lgl//leukemia, nk-lgl//leukemia, natural killer cell large granular lymphocytic//leukemia, t cell large granular lymphocytic//leukemia, t lgl//leukemia, t-cell large granular lymphocytic//leukemia, t-lgl//leukemias, lgl//leukemias, nk-lgl//leukemias, t-lgl//lymphocytoses, large granular//lymphocytosis, large granular//lymphoproliferative disease of granular lymphocytes//lymphoproliferative disease of large granular lymphocytes//nk cell large granular lymphocytic leukemia//nk lgl leukemia//nk-cell large granular lymphocytic leukemia//nk-lgl leukemia//nk-lgl leukemias//natural killer cell large granular lymphocytic leukemia//proliferation of large granular lymphocytes//t cell large granular lymphocyte leukemia//t cell large granular lymphocytic leukemia//t lgl leukemia//t gamma lymphoproliferative disorder//t-cell large granular lymphocyte leukemia//t-cell large granular lymphocytic leukemia//t-lgl//t-lgl leukemia//t-lgl leukemias//t-cell lgl leukemia//t-cell large gran. lymph. leuk.//t-cell large granular lymphocyte leukaemia//t-cell large granular lymphocytosis//t-gamma lymphoproliferative disease//t-gamma lymphoproliferative disorder//tlgl//tgamma large granular lymphocyte leukemia//large cell granular lymphoid leukemia//leukemia, large granular lymphocytic, malignant	STAT3	STAT3	https://raresource.nih.gov/literature/disease/0009812	0009812		86872	C2930809	D054066		signal transducer and activator of transcription 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=T-cell large granular lymphocyte leukemia"	0	0	1112
Congenital bile acid synthesis defect type 1	3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency//3-beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of//3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of//3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1//basd1//cbas1//cholestasis, progressive familial intrahepatic 4//congenital bile acid synthesis defect type 1 (cbas1)//congenital bile acid synthesis defect, type 1//hsd3b7 congenital bile acid synthesis defect//pfic4 progressive familial intrahepatic cholestasis type 4//progressive familial intrahepatic cholestasis 4//bile acid synthesis defect, congenital, 1//bile acid synthesis defect, congenital, 1; cbas1//bile acid synthesis defect, congenital, type 1//congenital bile acid synthesis defect 1//congenital bile acid synthesis defect caused by mutation in hsd3b7//congenital bile acid synthesis defect type 1	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 type 1"	0	0	2
Tukel syndrome	cfeom-u//cfeom4//congenital extraocular muscle fibrosis with ulnar hand anomalies//fibrosis of extraocular muscles, congenital, 4//fibrosis of extraocular muscles, congenital, with ulnar hand anomalies	TUKLS	TUKLS	https://raresource.nih.gov/literature/disease/0009814	0009814			C1836217			Tukel syndrome	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Tukel syndrome"	0	0	None
Autosomal dominant dopa-responsive dystonia	autosomal dominant segawa syndrome//autosomal dominant dopa responsive dystonia//drd//dyt-gch1//dyt-gch1 (subtype)//dyt-spr (subtype)//dyt-spr (subtype)//dyt-th (subtype)//dyt5//dyt5 dystonia//dyt5a//dopa responsive dystonia//dopa-responsive dystonia//dopa-responsive dystonia, autosomal dominant//dopa-responsive dystonia; segawa syndrome ad//dystonia 5//dystonia 5, dopa-responsive type//dystonia, dopa-responsive, with or without hyperphenylalaninemia//dystonia, dopa-responsive, autosomal dominant//dystonia, progressive, with diurnal variation//dystonia-parkinsonism with diurnal fluctuation//gtp cyclohydrolase 1-deficient dopa-responsive dystonia//gtpch1-deficient drd//gtpch1-deficient dopa-responsive dystonia//hpd with diurnal fluctuation//hpd with marked diurnal fluctuation//hereditary progressive dystonia with marked diurnal fluctuation//hereditary progressive dystonia with diurnal fluctuation//segawa dystonia//segawa syndrome, autosomal dominant//segawa's disease//autosomal dominant dopa-responsive dystonia//dystonia type 5//dystonia, dopa-responsive	GCH1;IMPDH2	GCH1;IMPDH2	https://raresource.nih.gov/literature/disease/0009817	0009817	128230	98808				GTP cyclohydrolase 1;inosine monophosphate dehydrogenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant dopa-responsive dystonia"	0	0	5769
Developmental malformations-deafness-dystonia syndrome	djo//developmental malformations-hearing loss-dystonia syndrome//dystonia, juvenile-onset//juvenile-onset dystonia//developmental malformations-deafness-dystonia syndrome//dystonia, juvenile-onset; djo	ACTB	ACTB	https://raresource.nih.gov/literature/disease/0009818	0009818	607371	79107				actin beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental malformations-deafness-dystonia syndrome"	0	0	3
PMM2-CDG	carbohydrate-deficient glycoprotein syndrome, type ia//carbohydrate-deficient glycoprotein syndrome, type ia, formerly//cdg - carbohydrate-deficient glycoprotein syndrome type i//cdg 1a//cdg ia//cdg syndrome type ia//cdg-ia//cdg1a//cdgia//carbohydrate deficient glycoprotein syndrome type ia//carbohydrate-deficient glycoprotein syndrome type ia//carbohydrate-deficient glycoprotein syndrome type 1a//carbohydrate-deficient glycoprotein syndrome type 1a (formerly)//carbohydrate-deficient glycoprotein syndrome type i//congenital disorder of glycosylation type ia//congenital disorder of glycosylation, type ia//congenital disorder of glycosylation type 1a//jaeken syndrome//phosphomannomutase 2 deficiency//pmm2 deficiency//pmm2-cdg (cdg-ia)//pmm2-congenital disorder of glycosylation//pmm2-cdg//congenital disorder of glycosylation 1a//congenital disorder of glycosylation, type ia; cdg1a	PMM2	PMM2	https://raresource.nih.gov/literature/disease/0009826	0009826	212065	79318	C0349653			phosphomannomutase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=PMM2-CDG"	0	0	314
ALG3-CDG	alg3 congenital disorder of glycosylation//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 iv//carbohydrate-deficient glycoprotein syndrome, type iv, formerly//cdg 1d//cdg id//cdg syndrome type id//cdg-id//cdg1d//cdgid//cdgs, type iv//cdgs, type iv, formerly//cdgs4 (formerly)//cdgs4, formerly//congenital disorder of glycosylation, type id//carbohydrate deficient glycoprotein syndrome type id//carbohydrate-deficient glycoprotein syndrome type iv (formerly)//carbohydrate-deficient glycoprotein syndrome, type 4//congenital disorder of glycosylation type 1d//congenital disorder of glycosylation type id//mannosyltransferase 6 deficiency//congenital disorder of glycosylation 1d//congenital disorder of glycosylation, type id; cdg1d	ALG3	ALG3	https://raresource.nih.gov/literature/disease/0009827	0009827	601110	79321	C1832736			ALG3 alpha-1,3- mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG3-CDG"	0	0	16
MGAT2-CDG	alkuraya syndrome//carbohydrate-deficient glycoprotein syndrome, type ii, formerly//carbohydrate-deficient glycoprotein syndrome, type ii, formerly; cdgs2, formerly//cdg - carbohydrate-deficient glycoprotein syndrome type ii//cdg 2a//cdg iia//cdg syndrome type iia//cdg-iia//cdg2a//cdgiia//cdgs2//cdgs2, formerly//carbohydrate deficient glycoprotein syndrome type 2a//carbohydrate deficient glycoprotein syndrome type iia//carbohydrate-deficient glycoprotein syndrome type 2//carbohydrate-deficient glycoprotein syndrome type ii//carbohydrate-deficient glycoprotein syndrome, type 2//congenital disorder of glycosylation, type iia//congenital disorder of glycosylation type 2a//congenital disorder of glycosylation type iia//mental retardation, growth retardation, prominent columella, and open mouth//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//carbohydrate-deficient glycoprotein syndrome, type ii//congenital disorder of glycosylation, type iia; cdg2a//intellectual disability, growth retardation, prominent columella, and open mouth	MGAT2	MGAT2	https://raresource.nih.gov/literature/disease/0009828	0009828	212066	79329	C2931008			alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MGAT2-CDG"	0	0	10
ALG6-CDG	alg6 congenital disorder of glycosylation//alg6-cdg (cdg-ic)//carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide//carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly//carbohydrate-deficient glycoprotein syndrome, type v//carbohydrate-deficient glycoprotein syndrome, type v, formerly//cdg 1c//cdg ic//cdg syndrome type ic//cdg-ic//cdg1c//cdgic//cdgs5 (formerly)//cdgs5, formerly//congenital disorder of glycosylation, type ic//carbohydrate deficient glycoprotein syndrome type 1c//carbohydrate deficient glycoprotein syndrome type ic//carbohydrate deficient glycoprotein syndrome type v//carbohydrate-deficient glycoprotein syndrome type 1c//carbohydrate-deficient glycoprotein syndrome type v//carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)//carbohydrate-deficient glycoprotein syndrome, type v (formerly)//congenital disorder of glycosylation type 1c//congenital disorder of glycosylation type ic//glucosyltransferase 1 deficiency//congenital disorder of glycosylation 1c//congenital disorder of glycosylation caused by mutation in alg6//congenital disorder of glycosylation, type ic; cdg1c	ALG6	ALG6	https://raresource.nih.gov/literature/disease/0009829	0009829	603147	79320	C2930997			ALG6 alpha-1,3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG6-CDG"	0	0	202
MPI-CDG	cdg 1b//cdg ib//cdg gastrointestinal type//cdg syndrome type ib//cdg, gastrointestinal type//cdg-ib//cdg1b//cdgib//congenital disorder of glycosylation, type ib//carbohydrate deficient glycoprotein syndrome type ib//carbohydrate-deficient glycoprotein syndrome type 1b//congenital disorder of glycosylation type 1b//congenital disorder of glycosylation type ib//mannosephosphate isomerase deficiency//mpi deficiency//mpi-cdg (cdg-ib)//protein-losing enteropathy-hepatic fibrosis syndrome//phosphomannose isomerase deficiency//saguenay-lac saint-jean syndrome//slsj syndrome//saguenay lac saint jean syndrome//congenital disorder of glycosylation 1b//congenital disorder of glycosylation, type ib; cdg1b	MPI	MPI	https://raresource.nih.gov/literature/disease/0009830	0009830	602579	79319	C1865145			mannose phosphate isomerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MPI-CDG"	0	0	49
DPM1-CDG	cdg 1e//cdg ie//cdg syndrome type ie//cdg-ie//cdg1e//cdgie//congenital disorder of glycosylation, type ie//carbohydrate deficient glycoprotein syndrome type ie//carbohydrate-deficient glycoprotein syndrome type 1e//congenital disorder of glycosylation type 1e//congenital disorder of glycosylation type ie//dpm1 congenital disorder of glycosylation//dpm1-cdg (cdg-ie)//dol-p-mannosyltransferase deficiency//congenital disorder of glycosylation 1e//congenital disorder of glycosylation caused by mutation in dpm1//congenital disorder of glycosylation, type ie; cdg1e	DPM1	DPM1	https://raresource.nih.gov/literature/disease/0009831	0009831	608799	79322	C1837396			dolichyl-phosphate mannosyltransferase subunit 1, catalytic	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DPM1-CDG"	0	0	7
MPDU1-CDG	cdg 1f//cdg if//cdg syndrome type if//cdg-if//cdg1f//cdgif//congenital disorder of glycosylation, type if//carbohydrate deficient glycoprotein syndrome type if//carbohydrate-deficient glycoprotein syndrome type 1f//congenital disorder of glycosylation type 1f//congenital disorder of glycosylation type if//mpdu1-cdg (cdg-if)//mpdu1-cdg - mannose-p-dolichol utilization defect 1 - congenital disorder of glycosylation//mannose-p-dolichol utilization defect 1//congenital disorder of glycosylation 1f//congenital disorder of glycosylation, type if; cdg1f	MPDU1	MPDU1	https://raresource.nih.gov/literature/disease/0009832	0009832	609180	79323	C1836669			mannose-P-dolichol utilization defect 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MPDU1-CDG"	0	0	3
ALG12-CDG	alg12-cdg (cdg-ig)//alg12-congenital disorder of glycosylation//cdg 1g//cdg ig//cdg syndrome type ig//cdg-ig//cdg1g//cdgig//carbohydrate deficient glycoprotein syndrome type ig//congenital disorder of glycosylation, type ig//congenital disorder of glycosylation type 1g//congenital disorder of glycosylation type ig//mannosyltransferase 8 deficiency//congenital disorder of glycosylation 1g//congenital disorder of glycosylation, type ig; cdg1g	ALG12	ALG12	https://raresource.nih.gov/literature/disease/0009833	0009833	607143	79324	C2931001			ALG12 alpha-1,6-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG12-CDG"	0	0	14
ALG8-CDG	alg8 congenital disorder of glycosylation//alg8-cdg (cdg-ih)//alg8-cdg - asparagine-linked glycosylation 8 congenital disorder of glycosylation//asparagine-linked glycosylation 8 congenital disorder of glycosylation//cdg 1h//cdg ih//cdg syndrome type ih//cdg-ih//cdg1h//cdgih//congenital disorder of glycosylation, type ih//carbohydrate deficient glycoprotein syndrome type ih//congenital disorder of glycosylation type 1h//congenital disorder of glycosylation type ih//glucosyltransferase 2 deficiency//congenital disorder of glycosylation 1h//congenital disorder of glycosylation, type ih; cdg1h	ALG8	ALG8	https://raresource.nih.gov/literature/disease/0009834	0009834	608104	79325	C2931002			ALG8 alpha-1,3-glucosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG8-CDG"	0	0	9
ALG2-CDG	alg2-cdg (cdg-ii)//cdg 1i//cdg ii//cdg syndrome type ii//cdg-ii//cdg1i//cdgii//carbohydrate deficient glycoprotein syndrome type ii//carbohydrate-deficient glycoprotein syndrome type 1i//congenital disorder of glycosylation type 1i//congenital disorder of glycosylation type ii//congenital disorder of glycosylation, type ii//mannosyltransferase 2 deficiency//congenital disorder of glycosylation 1i//congenital disorder of glycosylation, type ii; cdg1i	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-CDG"	0	0	24
DPAGT1-CDG	cdg 1j//cdg ij//cdg syndrome type ij//cdg-ij//cdg1j//cdgij//congenital disorder of glycosylation, type ij//carbohydrate deficient glycoprotein syndrome type ij//congenital disorder of glycosylation 1j//congenital disorder of glycosylation type 1j//congenital disorder of glycosylation type ij//dpagt1-cdg (cdg-ij)//dpagt1-cdg - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation//dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency//congenital disorder of glycosylation, type ij; cdg1j	DPAGT1	DPAGT1	https://raresource.nih.gov/literature/disease/0009837	0009837	608093	86309	C2931004			dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DPAGT1-CDG"	0	0	10
ALG1-CDG	alg1 congenital disorder of glycosylation//alg1-cdg (cdg-ik)//alg1-cdg - asparagine-linked glycosylation 1 congenital disorder of glycosylation//asparagine-linked glycosylation 1 congenital disorder of glycosylation//cdg 1k//cdg ik//cdg syndrome type ik//cdg-ik//cdg1k//cdgik//congenital disorder of glycosylation, type ik//carbohydrate deficient glycoprotein syndrome type ik//congenital disorder of glycosylation type 1k//congenital disorder of glycosylation type ik//mannosyltransferase 1 deficiency//congenital disorder of glycosylation 1k//congenital disorder of glycosylation, type ik; cdg1k	ALG1	ALG1	https://raresource.nih.gov/literature/disease/0009838	0009838	608540	79327	C2931005			ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG1-CDG"	0	0	15
ALG9-CDG	alg9 congenital disorder of glycosylation//alg9-cdg (cdg-il)//alg9-cdg - asparagine-linked glycosylation 9 congenital disorder of glycosylation//asparagine-linked glycosylation 9 congenital disorder of glycosylation//cdg 1l//cdg il//cdg syndrome type il//cdg-il//cdg1l//cdgil//congenital disorder of glycosylation, type il//carbohydrate deficient glycoprotein syndrome type 1l//carbohydrate deficient glycoprotein syndrome type il//congenital disorder of glycosylation type 1l//congenital disorder of glycosylation type il//mannosyltransferase 7-9 deficiency//congenital disorder of glycosylation 1l//congenital disorder of glycosylation, type il; cdg1l	ALG9	ALG9	https://raresource.nih.gov/literature/disease/0009839	0009839	608776	79328	C2931006			ALG9 alpha-1,2-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG9-CDG"	0	0	1736
B4GALT1-CDG	b4galt1-cdg (cdg-iid)//b4galt1-cdg - beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation//beta-1,4-galactosyltransferase deficiency//cdg 2d//cdg iid//cdg syndrome type iid//cdg-iid//cdg2d//cdgiid//congenital disorder of glycosylation, type iid//carbohydrate deficient glycoprotein syndrome type 2d//carbohydrate deficient glycoprotein syndrome type iid//congenital disorder of glycosylation type 2d//congenital disorder of glycosylation type iid//congenital disorder of glycosylation, type iid; cdg2d	B4GALT1	B4GALT1	https://raresource.nih.gov/literature/disease/0009841	0009841	607091	79332	C2931009			beta-1,4-galactosyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B4GALT1-CDG"	0	0	3
COG7-CDG	cdg 2e//cdg iie//cdg syndrome type iie//cdg-iie//cdg2e//cdgiie//cog7-cdg (cdg-iie)//carbohydrate deficient glycoprotein syndrome type iie//congenital disorder of glycosylation, type iie//congenital disorder of glycosylation type 2e//congenital disorder of glycosylation type iie//congenital disorder of glycosylation, type iie; cdg2e	COG7	COG7	https://raresource.nih.gov/literature/disease/0009842	0009842	608779	79333	C2931010			component of oligomeric golgi complex 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG7-CDG"	0	0	970
Primary familial polycythemia	autosomal dominant familial erythrocytosis-1//congenital erythrocytosis due to erythropoietin receptor mutation//congenital polycythemia due to erythropoietin receptor mutation//ecyt1//epor familial polycythemia//erythrocytosis, autosomal dominant benign//erythrocytosis autosomal dominant benign//familial erythrocytosis//familial erythrocytosis 1//familial erythrocytosis type 1//pfcp//polycythemia, primary familial and congenital//primary congenital erythrocytosis//primary familial and congenital polycythemia//autosomal dominant benign erythrocytosis//erythrocytosis familial, 1//erythrocytosis, familial, 1//erythrocytosis, familial, 1; ecyt1//erythrocytosis, familial, type 1//familial erythrocytosis, 1//familial polycythemia caused by mutation in epor//primary familial polycythemia	EPOR	EPOR	https://raresource.nih.gov/literature/disease/0009843	0009843	133100	90042	C0152264			erythropoietin receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary familial polycythemia"	0	0	99
Microcephalic osteodysplastic primordial dwarfism type II	mopd 2//mopd ii//mopd type ii//mopd2//majewski osteodysplastic primordial dwarfism type ii//microcephalic osteodysplastic primordial dwarfism type ii//microcephalic osteodysplastic primordial dwarfism with tooth abnormalities//microcephalic osteodysplastic primordial dwarfism type 2//microcephalic osteodysplastic primordial dwarfism, type 2//mopdii//osteodysplastic primordial dwarfism, type ii//osteodysplastic primordial dwarfism type ii//osteodysplastic primordial dwarfism type 2//osteodysplastic primordial dwarfism, type 2//microcephalic osteodysplastic primordial dwarfism, type ii//microcephalic osteodysplastic primordial dwarfism, type ii; mopd2	PCNT	PCNT	https://raresource.nih.gov/literature/disease/0009844	0009844	210720	2637	C0432246			pericentrin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcephalic osteodysplastic primordial dwarfism type II"	0	0	91
Heart-hand syndrome, Slovenian type	atrio-digital dysplasia, slovenian type//atriodigital dysplasia//atriodigital dysplasia slovenian type//atriodigital dysplasia, slovenian type//cardiac conduction disease - dilated cardiomyopathy - brachydactyly//cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome//cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome//heart-hand syndrome slovenian type//slovenian type//heart-hand syndrome, slovenian type	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"	0	0	4
Congenital brain dysgenesis due to glutamine synthetase deficiency	congenital glutamine deficiency//glutamine synthase deficiency, congenital systemic//glutamine deficiency, congenital//glutamine synthetase deficiency, congenital systemic//inherited gs deficiency//inherited glutamine synthetase deficiency//congenital brain dysgenesis due to glutamine synthetase deficiency	GLUL	GLUL	https://raresource.nih.gov/literature/disease/0009848	0009848	610015	71278				glutamate-ammonia ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital brain dysgenesis due to glutamine synthetase deficiency"	0	0	5
Goldberg-Shprintzen megacolon syndrome	goldberg-shprintzen megacolon syndrome//goshs//goldberg shprintzen megacolon syndrome//goldberg-shprintzen syndrome//goldberg-shprintzen syndrome; goshs//megacolon - microcephaly//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 megacolon syndrome"	0	0	27
Spondyloepimetaphyseal dysplasia with multiple dislocations	hall type//semd-md//semdjl2//spondyloepimetaphyseal dysplasia with joint laxity, hall type//spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type//spondyloepimetaphyseal dysplasia with multiple dislocations, hall type//spondyloepimetaphyseal dysplasia with joint laxicity//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 multiple dislocations hall type//spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type//spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type//leptodactylic type//spondyloepimetaphyseal dysplasia with joint laxity type 2; semdjl2//spondyloepimetaphyseal dysplasia with joint laxity, type 2; semdjl2//spondyloepimetaphyseal dysplasia with joint laxity, type 2//spondyloepimetaphyseal dysplasia with multiple dislocations	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"	0	0	4
Spinocerebellar ataxia type 14	sca14//sca14 spinocerebellar ataxia 14//spinocerebellar ataxia type14//spinocerebellar ataxia 14//spinocerebellar ataxia 14; sca14//spinocerebellar ataxia type 14	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"	0	0	73
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	3-@hydroxyacyl-coa dehydrogenase deficiency//3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency//3-hydroxyacyl-coenzyme a dehydrogenase deficiency//3-alpha hydroxyacyl-coa dehydrogenase deficiency//3-hydroxyacyl-coa dehydrogenase deficiency//3-hydroxylacyl-coa dehydrogenase deficiency//deficiency of 3-hydroxyacyl-coa dehydrogenase//deficiency of beta-hydroxyacyl dehydrogenase//deficiency of beta-keto-reductase//had deficiency//hadh deficiency//hadh hyperinsulinemic hypoglycemia (disease)//hadh-related hyperinsulinism//hadhsc deficiency//hhf4//hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency//hyperinsulinism due to hadh deficiency//hyperinsulinism due to schad deficiency//hyperinsulinism due to glutamodehydrogenase deficiency//hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency//l-3-alpha-hydroxyacyl-coa dehydrogenase, short chain, deficiency//m-schad deficiency//m/schad//medium and short chain 3-hydroxyacyl-coa dehydrogenase deficiency//schad deficiency, formerly//schad deficiency//hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh//hyperinsulinemic hypoglycemia due to hadh deficiency//hyperinsulinemic hypoglycemia, familial, 4//hyperinsulinemic hypoglycemia, familial, 4; hhf4//hyperinsulinemic hypoglycemia, familial, type 4//hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency	HADH	HADH	https://raresource.nih.gov/literature/disease/0009870	0009870	609975	71212	C1291230			hydroxyacyl-CoA dehydrogenase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	0	0	29
Lateral meningocele syndrome	lehman syndrome//lmns//lms//lateral meningocele syndrome//lateral meningocele syndrome; lmns	NOTCH3	NOTCH3	https://raresource.nih.gov/literature/disease/0009873	0009873	130720	2789	C0344487			notch receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lateral meningocele syndrome"	0	0	1444
Aortic aneurysm, familial thoracic 4	aat4//aortic aneurysm/aortic dissection and patent ductus arteriosus//aortic aneurysm-aortic dissection and patent ductus arteriosus//faa4//myh11 familial thoracic aortic aneurysm and aortic dissection//myh11-related thoracic aortic aneurysms and aortic dissections//aortic aneurysm, familial thoracic 4//aortic aneurysm, familial thoracic 4; aat4//aortic aneurysm, familial thoracic type 4//familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11	MYH11	MYH11	https://raresource.nih.gov/literature/disease/0009876	0009876			C1851504			myosin heavy chain 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aortic aneurysm, familial thoracic 4"	0	0	None
Fibular aplasia-complex brachydactyly syndrome	acromesomelic dysplasia 2b//amd2b//aplasia of fibula co-occurrent with complex brachydactyly//du pans syndrome//dupans//du pan syndrome//fibular hypoplasia and complex brachydactyly//fibular aplasia and complex brachydactyly//fibular aplasia-complex brachydactyly syndrome	GDF5;BMPR1B	GDF5;BMPR1B	https://raresource.nih.gov/literature/disease/0009879	0009879	228900	2639	C1856738			growth differentiation factor 5;bone morphogenetic protein receptor type 1B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibular aplasia-complex brachydactyly syndrome"	0	0	9
Hyperandrogenism due to cortisone reductase deficiency	11-alpha beta-hydroxysteroid dehydrogenase type i deficiency of//11-beta-hydroxysteroid dehydrogenase deficiency type 1//11-beta-hydroxysteroid dehydrogenase, type i, deficiency of//cortrd//cortisone reductase deficiency//hsd 11b1 deficiency//deficiency of (r)-20-hydroxysteroid dehydrogenase//deficiency of cortisone reductase//hyperandrogenism due to cortisone reductase deficiency	H6PD;HSD11B1	H6PD;HSD11B1	https://raresource.nih.gov/literature/disease/0009882	0009882	614662	168588	C1291245			hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase;hydroxysteroid 11-beta dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperandrogenism due to cortisone reductase deficiency"	0	0	25
Juvenile myelomonocytic leukemia	cmml//jcml//jcml - juvenile chronic myeloid leukemia//jmml//juvenile chronic myelogenous leukemia//juvenile myelomonocytic leukemia//juvenile myelomonocytic leukemias//juvenile chronic myelomonocytic leukemia//juvenile myelomonocytic leukaemia//leukemia, chronic myelomonocytic//leukemia, juvenile myelomonocytic//leukemia, juvenile myelomonocytic, somatic//leukemia, myelomonocytic, juvenile//myelomonocytic leukemia, juvenile//myelomonocytic leukemias, juvenile//chronic myelomonocytic leukemia//juvenile chronic myeloid leukemia//juvenile myelomonocytic leukemia; jmml	NF1;KRAS;RRAS;NRAS;PTPN11;CBL	NF1;KRAS;RRAS;NRAS;PTPN11;CBL	https://raresource.nih.gov/literature/disease/0009884	0009884	607785	86834	C0349639	D054429		neurofibromin 1;KRAS proto-oncogene, GTPase;RAS related;NRAS proto-oncogene, GTPase;protein tyrosine phosphatase non-receptor type 11;Cbl proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile myelomonocytic leukemia"	0	0	3229
Ichthyosis-prematurity syndrome	congenital ichthyosis type 4//ichthyosis congenita iv//ips//ichthyosis prematurity syndrome//idiopathic pneumonia syndrome//ichthyosis congenita 4//ichthyosis prematurity syndrome; ips//ichthyosis-prematurity syndrome	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"	0	0	522
Benign concentric annular macular dystrophy	bcamd//bull's eye maculopathy//bull's-eye maculopathy//bulls-eye maculopathy//chloroquine retinopathy//macular dystrophy, benign concentric annular//mcdca//macular dystrophy, concentric annular//maculopathy, bull's eye//rp91//benign concentric annular macular dystrophy	IMPG1	IMPG1	https://raresource.nih.gov/literature/disease/0009887	0009887	153870	251287	C1828210			interphotoreceptor matrix proteoglycan 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign concentric annular macular dystrophy"	0	0	303
Pyruvate dehydrogenase phosphatase deficiency	lactic acidemia with pyruvate dehydrogenase phosphatase deficiency//pdh phosphatase deficiency//pdhpd//pyruvate dehydrogenase phosphatase deficiency//pyruvate dehydrogenase 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"	0	0	6
Autosomal dominant optic atrophy, classic form	autosomal dominant optic atrophy//autosomal dominant optic atrophy, kjer type//kjer-type optic atrophy//kjer disease//kjer optic atrophy//kjer type//oak//opa1//optic atrophy, juvenile//optic atrophy, kjer type//optic atrophy 1//optic atrophy type 1//autosomal dominant optic atrophy, classic form//optic atrophy 1; opa1	OPA1;DNM1L	OPA1;DNM1L	https://raresource.nih.gov/literature/disease/0009890	0009890	618977	98673				OPA1 mitochondrial dynamin like GTPase;dynamin 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant optic atrophy, classic form"	0	0	544
Cataract 18	cataract, autosomal recessive congenital 2//catc2//ctrct18//cataract//fyco1 cataract (disease)//autosomal recessive congenital 2//autosomal recessive congenital cataract 2//cataract (disease) caused by mutation in fyco1//cataract 18//cataract 18 autosomal recessive//cataract 18; ctrct18//cataract type 18	FYCO1	FYCO1	https://raresource.nih.gov/literature/disease/0009892	0009892			C1864908			FYVE and coiled-coil domain autophagy adaptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cataract 18"	0	0	43304
Myasthenic syndrome, congenital, 2a, slow-channel	cms iia//cms2a//congenital myasthenic syndrome 2a//myasthenic syndrome, congenital, postsynaptic slow-channel//myasthenic syndrome, congenital, slow-channel//myasthenic syndrome, congenital, type iia//sccms//slow channel congenital myasthenic syndrome//slow-channel congenital myasthenic syndrome//congenital myasthenic syndrome 2a slow-channel//congenital myasthenic syndrome type 2a//myasthenic syndrome, congenital, 2a, slow-channel//myasthenic syndrome, congenital, 2a, slow-channel; cms2a	CHRNB1	CHRNB1	https://raresource.nih.gov/literature/disease/0009895	0009895		98913	C4225374			cholinergic receptor nicotinic beta 1 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 2a, slow-channel"	0	0	33
Posterior column ataxia-retinitis pigmentosa syndrome	axpc1//autosomal recessive posterior column ataxia and retinitis pigmentosa//pcarp//posterior column ataxia with retinitis pigmentosa//posterior column ataxia with retinitis pigmentosa; axpc1//posterior column ataxia with retinitis pigmentosa syndrome//posterior column ataxia-retinitis pigmentosa syndrome	FLVCR1	FLVCR1	https://raresource.nih.gov/literature/disease/0009898	0009898	609033	88628	C1836916	C536343		FLVCR heme transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Posterior column ataxia-retinitis pigmentosa syndrome"	0	0	17
Telangiectasia, hereditary hemorrhagic, type 2	acvrl1 hereditary hemorrhagic telangiectasia//hht2//hereditary hemorrhagic telangiectasia type 2//orw2//osler weber rendu syndrome type 2//pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related//telangiectasia hereditary hemorrhagic type 2//hereditary hemorrhagic telangiectasia caused by mutation in acvrl1//telangiectasia, hereditary hemorrhagic, type 2//telangiectasia, hereditary hemorrhagic, type 2; hht2	ACVRL1	ACVRL1	https://raresource.nih.gov/literature/disease/0009901	0009901		774	C1838163			activin A receptor like type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia, hereditary hemorrhagic, type 2"	0	0	135
Telangiectasia, hereditary hemorrhagic, type 3	hht3//hereditary hemorrhagic telangiectasia type 3//orw3//osler weber rendu syndrome type 3//telangiectasia hereditary hemorrhagic type 3//telangiectasia, hereditary hemorrhagic, type 3//telangiectasia, hereditary hemorrhagic, type 3; hht3	HHT3	HHT3	https://raresource.nih.gov/literature/disease/0009902	0009902		774	C1832774			Hereditary hemorrhagic telangiectasia, type 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia, hereditary hemorrhagic, type 3"	0	0	1
Polysyndactyly	ppd4//preaxial polydactyly type 4	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"	0	0	155
Lynch syndrome		EPCAM;PMS1;PIK3CA;PMS2;TGFBR2;MSH6;KRAS;MLH1;MLH3;MSH2;FAN1	EPCAM;PMS1;PIK3CA;PMS2;TGFBR2;MSH6;KRAS;MLH1;MLH3;MSH2;FAN1	https://raresource.nih.gov/literature/disease/0009905	0009905	613244	144	C1333990	D003123		epithelial cell adhesion molecule;PMS1 homolog 1, mismatch repair system component;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha;PMS1 homolog 2, mismatch repair system component;transforming growth factor beta receptor 2;mutS homolog 6;KRAS proto-oncogene, GTPase;mutL homolog 1;mutL homolog 3;mutS homolog 2;FANCD2 and FANCI associated nuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lynch syndrome"	0	0	4062
Arthrogryposis, distal, type 2b1	arthrogryposis multiplex congenita//arthrogryposis multiplex congenita distal type 2b//arthrogryposis multiplex congenita distal type ii with craniofacial abnormalities//arthrogryposis multiplex congenita type 2b//da2b//distal arthrogryposis type 2b//distal arthrogryposis type iib//fssv//freeman sheldon syndrome, variant//freeman sheldon variant//freeman-sheldon syndrome variant//shs//sheldon-hall syndrome//arthrogryposis multiplex congenita, distal, type 2b//arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities//arthrogryposis, distal, type 2b//arthrogryposis, distal, type 2b; da2b//distal//type 2b//type ii//with craniofacial abnormalities	TNNI2	TNNI2	https://raresource.nih.gov/literature/disease/0009909	0009909			C1834523			troponin I2, fast skeletal type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Arthrogryposis, distal, type 2b1"	0	0	4172
Lethal acantholytic erosive disorder	ebla//epidermolysis bullosa, lethal acantholytic//laeb//lethal acantholytic epidermolysis bullosa//epidermolysis bullosa, lethal acantholytic; ebla	DSP;JUP	DSP;JUP	https://raresource.nih.gov/literature/disease/0009910	0009910	609638	158687	C1864826	C535493		desmoplakin;junction plakoglobin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal acantholytic erosive disorder"	0	0	5
Fibromatosis, gingival, 3	fibromatosis, gingival, hereditary, 3//fibromatosis gingival, hereditary, 3//ggf3//gingf3//gingival fibromatosis, 3//hgf3//hereditary gingival fibromatosis, 3//fibromatosis, gingival, 3//fibromatosis, gingival, 3; gingf3	GINGF3	GINGF3	https://raresource.nih.gov/literature/disease/0009911	0009911			C1864960			Fibromatosis, gingival, 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fibromatosis, gingival, 3"	0	0	None
Lennox-Gastaut syndrome	childhood epileptic encephalopathy with diffuse slow spikes and waves//encephalopathy of childhood//epileptic encephalopathy lennox-gastaut type//lgs//lennox gastaut syndrome//lennox gastaut syndromes//lennox syndrome//lennox-gastaut syndrome//macrocephaly and epileptic encephalopathy	CUX2;DNM1;GABRB3;CACNA1A;CHD2;MAPK10;SCN1A	CUX2;DNM1;GABRB3;CACNA1A;CHD2;MAPK10;SCN1A	https://raresource.nih.gov/literature/disease/0009912	0009912	615369	2382	C0238111	C535500		cut like homeobox 2;dynamin 1;gamma-aminobutyric acid type A receptor subunit beta3;calcium voltage-gated channel subunit alpha1 A;chromodomain helicase DNA binding protein 2;mitogen-activated protein kinase 10;sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lennox-Gastaut syndrome"	0	0	1701
Glomerulopathy with fibronectin deposits 2	fibronectin glomerulopathy//fn1 fibronectin glomerulopathy//gfnd2//glomerular nephritis, familial, with fibronectin deposits//glomerular nephritis//glomerular nephritis familial with fibronectin deposits//familial//fibronectin glomerulopathy caused by mutation in fn1//glomerulopathy with fibronectin deposits 2//glomerulopathy with fibronectin deposits 2; gfnd2//glomerulopathy with fibronectin deposits type 2//with fibronectin deposits	FN1	FN1	https://raresource.nih.gov/literature/disease/0009914	0009914		84090	C1866075			fibronectin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glomerulopathy with fibronectin deposits 2"	0	0	588
Multiple synostoses syndrome 2	gdf5 multiple synostoses syndrome//syns2//multiple synostoses syndrome 2//multiple synostoses syndrome 2; syns2//multiple synostoses syndrome caused by mutation in gdf5//multiple synostoses syndrome type 2	GDF5	GDF5	https://raresource.nih.gov/literature/disease/0009916	0009916			C1832708			growth differentiation factor 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple synostoses syndrome 2"	0	0	3
Deafness, autosomal recessive 51	dfnb51//autosomal recessive deafness 51//autosomal recessive nonsyndromic deafness type 51//deafness, autosomal recessive 51//deafness, autosomal recessive 51; dfnb51	DFNB51	DFNB51	https://raresource.nih.gov/literature/disease/0009918	0009918			C1864968			Deafness, autosomal recessive 51	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal recessive 51"	0	0	None
Deafness, autosomal recessive 55	dfnb55//autosomal recessive deafness 55//autosomal recessive nonsyndromic deafness type 55//deafness, autosomal recessive 55//deafness, autosomal recessive 55; dfnb55	DFNB55	DFNB55	https://raresource.nih.gov/literature/disease/0009919	0009919			C1864962			Deafness, autosomal recessive 55	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal recessive 55"	0	0	None
Mitochondrial neurogastrointestinal encephalomyopathy	mngie//mngie syndrome//mitochondrial neurogastrointestinal encephalopathy//mitochondrial neurogastrointestinal encephalopathy syndrome//myoneurogastrointestinal encephalopathy syndrome//ogimd//oculogastrointestinal muscular dystrophy//polip//polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction//thymidine phosphorylase deficiency//mitochondrial neurogastrointestingal encephalopathy//mitochondrial neurogastrointestinal encephalomyopathy	POLG;TYMP;LIG3;RRM2B	POLG;TYMP;LIG3;RRM2B	https://raresource.nih.gov/literature/disease/0009920	0009920	613662	298	C0872218			DNA polymerase gamma, catalytic subunit;thymidine phosphorylase;DNA ligase 3;ribonucleotide reductase regulatory TP53 inducible subunit M2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial neurogastrointestinal encephalomyopathy"	0	0	319
Nasu-Hakola disease	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//plosl1//plosl2//presenile dementia with bone cysts//polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy//presenile dementia with bone cyst//polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; plosl//polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly//progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease	TREM2;TYROBP	TREM2;TYROBP	https://raresource.nih.gov/literature/disease/0009921	0009921	618193	2770	C1857316	C536329		triggering receptor expressed on myeloid cells 2;transmembrane immune signaling adaptor TYROBP	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nasu-Hakola disease"	0	0	234
Hyperinsulinism-hyperammonemia syndrome	gdh hyperinsulinism//glud1 hyperinsulinism//glud1-related hyperinsulinism//ha/hi syndrome//hhf6//hi/ha syndrome//hyperinsulinism-hyperammonemia syndrome//hyperinsulinemic hypoglycemia familial 6//hyperinsulinism and hyperammonemia syndrome//hyperinsulinism hyperammonemia syndrome//glutamate dehydrogenase 1 hyperinsulinism//hyperinsulinemic hypoglycemia, familial, 6//hyperinsulinemic hypoglycemia, familial, 6; hhf6//hyperinsulinemic hypoglycemia, familial, type 6//hyperinsulinism/hyperammonemia syndrome	GLUD1	GLUD1	https://raresource.nih.gov/literature/disease/0009931	0009931	606762	35878				glutamate dehydrogenase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperinsulinism-hyperammonemia syndrome"	0	0	71
Exercise-induced hyperinsulinism	eihi//exercise induced hyperinsulinemic hypoglycemia//exercise-induced hyperinsulinemic hypoglycemia//hhf7//hyperinsulinemic hypoglycemia, exercise-induced//hyperinsulinemic hypoglycemia exercise-induced//hyperinsulinemic hypoglycemia familial 7//hyperinsulinism due to slc16a1 deficiency//hyperinsulinism due to monocarboxylate transporter 1 deficiency//mct1 hyperinsulinism//exercise-induced hyperinsulinism//hyperinsulinemic hypoglycemia, familial, 7//hyperinsulinemic hypoglycemia, familial, 7; hhf7//hyperinsulinemic hypoglycemia, familial, type 7//monocarboxylate transporter 1 hyperinsulinism	SLC16A1	SLC16A1	https://raresource.nih.gov/literature/disease/0009932	0009932	610021	165991	C1864902			solute carrier family 16 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Exercise-induced hyperinsulinism"	0	0	6
Deafness, autosomal dominant 3a	dfna3//dfna3a//deafness, autosomal dominant nonsyndromic sensorineural 3//gjb2 autosomal dominant nonsyndromic deafness//gjb2-related dfna 3 nonsyndromic hearing loss and deafness//nsrd1//neurosensory nonsyndromic dominant deafness 1//autosomal dominant deafness 3a//autosomal dominant nonsyndromic deafness 3a//autosomal dominant nonsyndromic deafness caused by mutation in gjb2//autosomal dominant nonsyndromic deafness type 3a//deafness, autosomal dominant 3a//deafness, autosomal dominant 3a; dfna3a//deafness, autosomal dominant type 3a	GJB2	GJB2	https://raresource.nih.gov/literature/disease/0009933	0009933			C2675750			gap junction protein beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 3a"	0	0	9
Deafness, autosomal dominant 53	deafness, autosomal dominant 53//dfna53//deafness, autosomal dominant nonsyndromic sensorineural 53//autosomal dominant deafness 53//autosomal dominant nonsyndromic deafness 53//autosomal dominant nonsyndromic deafness type 53//deafness, autosomal dominant 53; dfna53	DFNA53	DFNA53	https://raresource.nih.gov/literature/disease/0009934	0009934			C1864957			Deafness, autosomal dominant 53	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal dominant 53"	0	0	None
Deafness, autosomal recessive 47	deafness, autosomal recessive 47//dfnb47//deafness, neurosensory, autosomal recessive 47//autosomal recessive deafness 47//autosomal recessive nonsyndromic deafness 47//autosomal recessive nonsyndromic deafness type 47//deafness, autosomal recessive 47; dfnb47	DFNB47	DFNB47	https://raresource.nih.gov/literature/disease/0009935	0009935			C1864964			Deafness, neurosensory, autosomal recessive 47	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness, autosomal recessive 47"	0	0	633
Hypohidrotic ectodermal dysplasia with immunodeficiency	anhidrotic ectodermal dysplasia with immune deficiency//anhidrotic ectodermal dysplasia with immunodeficiency//ectodermal dysplasia and immune deficiency 1//ectodermal dysplasia, anhidrotic, with immune deficiency//ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema//ectodermal dysplasia, hypohidrotic, with immune deficiency//eda-id//edaid1//hed-id//hedid//hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia//hyper-igm immunodeficiency with hypohidrotic ectodermal dysplasia//hypohidrotic ectodermal dysplasia with immune deficiency//ol-eda-id//ol-eda-id syndrome//oledaid//xhmed//xhm-ed//anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome//ectodermal dysplasia and immune deficiency//ectodermal dysplasia and immunodeficiency 1//ectodermal dysplasia, anhidrotic, with immune deficiency 1//ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; oledaid//ectodermal dysplasia, hypohidrotic, with immune deficiency 1//hypohidrotic ectodermal dysplasia with immunodeficiency	NFKBIA;IKBKG	NFKBIA;IKBKG	https://raresource.nih.gov/literature/disease/0009936	0009936	612132	98813	C1846006			NFKB inhibitor alpha;inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypohidrotic ectodermal dysplasia with immunodeficiency"	0	0	47
Myopia 6	myp6//myopia, susceptibility to//sco2 myopia (disease)//myopia (disease) caused by mutation in sco2//myopia 6//myopia 6; myp6//myopia type 6	SCO2	SCO2	https://raresource.nih.gov/literature/disease/0009937	0009937			C1837148			synthesis of cytochrome C oxidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myopia 6"	0	0	None
CEDNIK syndrome	cednik (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome//cednik syndrome//cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome//cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome//cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome//cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	SNAP29	https://raresource.nih.gov/literature/disease/0009940	0009940	609528	66631	C1836033			synaptosome associated protein 29	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CEDNIK syndrome"	0	0	21
Facioscapulohumeral dystrophy	facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles//facioscapulohumeral muscular dystrophy//facioscapulohumeral muscular dystrophy, infantile//fmd//frg1 facioscapulohumeral muscular dystrophy//fsh dystrophy//fshd//fshd1//fshd1a//fshmd1a//facioscapulohumeral muscular dystrophy 1a//facioscapulohumeral myopathy//landouzy-dejerine muscular dystrophy//landouzy-dejerine dystrophy//landouzy-dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included//landouzy-dejerine myopathy//muscular dystrophy, facioscapulohumeral, type 1//muscular dystrophy, facioscapulohumeral, type 1a//muscular dystrophy, facioscapulohumeral//facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included//facioscapulohumeral muscular dystrophy 1//facioscapulohumeral muscular dystrophy 1; fshd1//facioscapulohumeral muscular dystrophy caused by mutation in frg1//facioscapulohumeral muscular dystrophy type 1//facioscapulohumeral muscular dystrophy type 1a	DNMT3B;DUX4;FRG1;DUX4L1;SMCHD1	DNMT3B;DUX4;FRG1;DUX4L1;SMCHD1	https://raresource.nih.gov/literature/disease/0009941	0009941	600416	269	C0238288			DNA methyltransferase 3 beta;double homeobox 4;FSHD region gene 1;double homeobox 4 like 1 (pseudogene);structural maintenance of chromosomes flexible hinge domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Facioscapulohumeral dystrophy"	0	0	5252
Amelogenesis imperfecta, type ie	ai1e//aih1//amelogenesis imperfecta, hypomaturation type, with snow-capped teeth//amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1//amelogenesis imperfecta, x-linked 1//amelx amelogenesis imperfecta//amelogenesis imperfecta//amelogenesis imperfecta x-linked 1//amelogenesis imperfecta hypoplastic/hypomaturation x-linked 1//enamel hypoplasia, x-linked//enamel hypoplasia x-linked//x-linked amelogenesis imperfecta 1//x-linked amelogenesis imperfecta hypoplastic/hypomaturation 1//x-linked enamel hypoplasia//amelogenesis imperfecta caused by mutation in amelx//amelogenesis imperfecta hypomaturationtype with snow-capped teeth//amelogenesis imperfecta type ie//amelogenesis imperfecta, type 1e//amelogenesis imperfecta, type ie//amelogenesis imperfecta, type ie; ai1e//enamel hypoplasia//hypomaturation type//hypoplastic/hypomaturation//with snow-capped teeth//x-linked//x-linked 1	AMELX	AMELX	https://raresource.nih.gov/literature/disease/0009943	0009943			C1845053			amelogenin X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, type ie"	0	0	1803
Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2	aih3//aih3 ( formerly)//aih3 (formerly)//aih3, formerly//amelogenesis imperfecta 3, hypoplastic type//amelogenesis imperfecta 3, hypoplastic type, formerly//amelogenesis imperfecta 3, hypoplastic type (formerly)//amelogenesis imperfecta, hypoplastic-hypomaturation, x-linked 2//amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2//enamel hypoplasia, x-linked//x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2//x-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2//x-linked enamel hypoplasia//amelogenesis imperfecta type ie x-linked 2//amelogenesis imperfecta 3 hypoplastic type//amelogenesis imperfecta type ie x-linked 2//amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2	AIH3	AIH3	https://raresource.nih.gov/literature/disease/0009944	0009944			C1845051			Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2"	0	0	None
Spinocerebellar ataxia type 23	sca23//sca23 spinocerebellar ataxia 23//spinocerebellar ataxia type23//spinocerebellar ataxia 23//spinocerebellar ataxia 23; sca23//spinocerebellar ataxia type 23	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"	0	0	54
Spinocerebellar ataxia type 28	sca28//sca28 spinocerebellar ataxia 28//spinocerebellar ataxia 28//spinocerebellar ataxia 28; sca28//spinocerebellar ataxia type 28	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"	0	0	35
Congenital primary aphakia	anterior segment dysgenesis 2//aphakia, congenital primary//asgd2//cpa//cpak//congenital absence of lens//congenital aphakia//lens agenesis//anterior segment dysgenesis 2; asgd2//congenital primary 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"	0	0	1011
Oligodendroglioma	adult oligodendroglioma//adult oligodendrogliomas//anaplastic oligodendroglioma//anaplastic oligodendrogliomas//childhood oligodendroglioma//childhood oligodendrogliomas//mixed oligodendroglioma astrocytoma//mixed oligodendroglioma ependymoma//mixed oligodendroglioma-astrocytoma//mixed oligodendroglioma-astrocytomas//mixed oligodendroglioma-ependymoma//mixed oligodendroglioma-ependymomas//oligodendroblastoma//oligodendroblastomas//oligodendroglioma, adult//oligodendroglioma, anaplastic//oligodendroglioma, childhood//oligodendroglioma, nos//oligodendroglioma, not otherwise specified//oligodendroglioma, well differentiated//oligodendroglioma, well-differentiated//oligodendroglioma, no icd-o subtype//oligodendroglioma, no international classification of diseases for oncology subtype//oligodendroglioma-astrocytoma, mixed//oligodendroglioma-astrocytomas, mixed//oligodendroglioma-ependymoma, mixed//oligodendroglioma-ependymomas, mixed//oligodendrogliomas//oligodendrogliomas, adult//oligodendrogliomas, anaplastic//oligodendrogliomas, childhood//oligodendrogliomas, well-differentiated//who grade ii oligodendroglial neoplasm//who grade ii oligodendroglial tumor//well differentiated oligodendroglioma//well-differentiated oligodendroglioma//well-differentiated oligodendrogliomas//oligodendroglial neoplasm//oligodendroglial tumor//oligodendroglioma//well differentiated oligodendroglial tumor	IDH2;POT1	IDH2;POT1	https://raresource.nih.gov/literature/disease/0009953	0009953	137800	251627	C0028945			isocitrate dehydrogenase (NADP(+)) 2;protection of telomeres 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oligodendroglioma"	0	0	4279
Spinocerebellar ataxia type 27	cerebellar ataxia, autosomal dominant, fgf14-related//cerebellar ataxia autosomal dominant fgf14-related//sca27//sca27 spinocerebellar ataxia 27//spinocerebellar ataxia type27//spinocerebellar ataxia 27//spinocerebellar ataxia 27; sca27//spinocerebellar ataxia type 27	FGF14	FGF14	https://raresource.nih.gov/literature/disease/0009963	0009963	609307	98764	C1836383	C537204		fibroblast growth factor 14	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 27"	0	0	18
Glycogen storage disease due to phosphoglycerate mutase deficiency	deficiency mutase phosphoglycerate//gsd 10//gsd x//gsd due to phosphoglycerate mutase deficiency//gsd type 10//gsd10//gsdx//glycogen storage disease x//glycogenosis due to phosphoglycerate mutase deficiency//human muscle phosphoglycerate mutase deficiency//myopathy due to phosphoglycerate mutase deficiency//muscle phosphoglycerate mutase deficiency//pgam deficiency//pgam2 glycogen storage disease//pgamm deficiency//phosphoglycerate mutase, muscle, deficiency of//phosphoglycerate mutase deficiency//glycogen storage disease 10//glycogen storage disease x; gsd10//glycogen storage disease caused by mutation in pgam2//glycogen storage disease due to phosphoglycerate mutase deficiency//glycogen storage disease type 10	PGAM2	PGAM2	https://raresource.nih.gov/literature/disease/0009964	0009964	261670	97234	C0268149			phosphoglycerate mutase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to phosphoglycerate mutase deficiency"	0	0	26
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	congenital disorder of glycosylation due to pigm deficiency//glycosylphosphatidylinositol deficiency//gpi deficiency//gpibd1//gpid//pigm-cdg//portal hypertension with seizures and/or macrocephaly//glycosylphosphatidylinositol biosynthesis defect 1//glycosylphosphatidylinositol deficiency; gpid//hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	PIGM;PIGW	PIGM;PIGW	https://raresource.nih.gov/literature/disease/0009965	0009965	610293	83639	C1853205			phosphatidylinositol glycan anchor biosynthesis class M;phosphatidylinositol glycan anchor biosynthesis class W	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	0	0	81
Spinocerebellar ataxia type 4	ataxia 4, spinocerebellar//ataxia 4s, spinocerebellar//sca4//spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy//spinocerebellar ataxia 4s//spinocerebellar ataxia-4//spinocerebellar ataxia 4//spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy//type 4 spinocerebellar ataxia//spinocerebellar ataxia 4; sca4//spinocerebellar ataxia type 4	PLEKHG4	PLEKHG4	https://raresource.nih.gov/literature/disease/0009970	0009970	600223	98765	C0752122			pleckstrin homology and RhoGEF domain containing G4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 4"	0	0	16
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	autosomal recessive cerebellar ataxia - blindness - deafness//autosomal recessive cerebellar ataxia-blindness-deafness syndrome//autosomal recessive spinocerebellar ataxia type 3//autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome//scabd//scar3//spinocerebellar ataxia with blindness and deafness//spinocerebellar ataxia autosomal recessive 3//autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome//spinocerebellar ataxia, autosomal recessive 3//spinocerebellar ataxia, autosomal recessive 3; scar3	PEX6	PEX6	https://raresource.nih.gov/literature/disease/0009971	0009971	271250	95433	C1849094			peroxisomal biogenesis factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"	0	0	1
Spinocerebellar ataxia type 31	sca31//sca31 spinocerebellar ataxia 31//spinocerebellar ataxia, 16q22-linked//spinocerebellar ataxia 16q22-linked//spinocerebellar ataxia 31//spinocerebellar ataxia 31; sca31//spinocerebellar ataxia type 31	BEAN1	BEAN1	https://raresource.nih.gov/literature/disease/0009975	0009975	117210	217012	C1861736			brain expressed associated with NEDD4 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 31"	0	0	41
Spinocerebellar ataxia type 18	sca18//sensorimotor neuropathy with ataxia, autosomal dominant//smna//sensorimotor neuropathy with ataxia autosomal dominant//spinocerebellar ataxia 18//spinocerebellar ataxia 18; sca18//spinocerebellar ataxia type 18	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"	0	0	6
CAMOS syndrome	camos//camos (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome//cerebellar ataxia - intellectual disability - optic atrophy - skin abnormalities//cerebellar ataxia with mental retardation optic atrophy and skin abnormalities//cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities//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//spinocerebellar ataxia autosomal recessive 5//spinocerebellar ataxia, autosomal recessive 5//cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities	WDR73;ZNF592	WDR73;ZNF592	https://raresource.nih.gov/literature/disease/0009977	0009977	606937	83472	C1847114			WD repeat domain 73;zinc finger protein 592	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CAMOS syndrome"	0	0	1
Severe combined immunodeficiency due to DCLRE1C deficiency	athabaskan severe combined immunodeficiency//athabascan type//athabaskan type//dclre1c severe combined immunodeficiency (disease)//rs-scid//scid//scid due to artemis deficiency//scid due to dclre1c deficiency//scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation//scid, athabascan type//scid, athabaskan type//scida//severe combined immunodeficiency, athabaskan-type//severe combined immunodeficiency, partial//severe combined immunodeficiency//severe combined immunodeficiency due to artemis deficiency//severe combined immunodeficiency with sensitivity to ionizing radiation//severe combined immunodeficiency, athabascan type//severe combined immunodeficiency, athabaskan type//artemis deficiency//severe combined immunodeficiency (disease) caused by mutation in dclre1c//severe combined immunodeficiency due to dclre1c deficiency	DCLRE1C	DCLRE1C	https://raresource.nih.gov/literature/disease/0009987	0009987	602450	275	C1865372			DNA cross-link repair 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to DCLRE1C deficiency"	0	0	297
Mandibuloacral dysplasia with type B lipodystrophy	lipodystrophy, type b, associated with mandibuloacral dysplasia//madb//mandibuloacral dysplasia with type b lipodystrophy; madb//mandibuloacral dysostosis co-occurrent with type b lipodystrophy//mandibuloacral dysplasia 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"	0	0	7
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	b4galt7-cdg//b4galt7-related spondylodysplastic eds//defective biosynthesis of proteodermatan sulfate//dermatan sulfate proteoglycan//eds progeroid type 1//eds with short stature and limb anomalies//eds, progeroid type//edsspd1//ehlers-danlos syndrome, progeroid type, 2//ehlers-danlos syndrome progeroid type//ehlers-danlos syndrome with short stature and limb anomalies//ehlers-danlos syndrome, progeroid type//ehlers-danlos syndrome, progeroid type (former)//ehlers-danlos syndrome, spondylodysplastic type, 1//ehlers-danlos syndrome, spondylodysplastic type, 1; edsspd1//galactosyltransferase 1 deficiency//galactosyltransferase i deficiency//pds//pds, defective biosynthesis of//progeroid variant of ehlers-danlos syndrome//proteodermatan sulfate, defective biosynthesis of//rls//reunion island larsen syndrome//spondylodysplastic ehlers-danlos syndrome//xgpt deficiency//xylosylprotein 4-beta-galactosyltransferase deficiency//multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome//speds-b4galt7	B4GALT7	B4GALT7	https://raresource.nih.gov/literature/disease/0009991	0009991	615349	75496	C1869122	C536201		beta-1,4-galactosyltransferase 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"	0	0	4609
Spinocerebellar ataxia type 26	sca26//sca26 spinocerebellar ataxia 26//spinocerebellar ataxia 26//spinocerebellar ataxia 26; sca26//spinocerebellar ataxia type 26	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"	0	0	5
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	ataxia neuropathy spectrum disorder//c10orf2-related ataxia neuropathy spectrum disorders//epilepsy, progressive myoclonic, 5//epilepsy, progressive myoclonic, 5, formerly//epilepsy, progressive myoclonic, with sensory ataxic neuropathy//epm5//epm5, formerly//pme type 5//polg-related ataxia neuropathy spectrum disorders//prickle2 progressive myoclonic epilepsy//sando//scae//sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive//spinocerebellar ataxia with epilepsy//sensory ataxic neuropathy, dysarthria, and ophthalmoparesis//autosomal recessive sensory ataxic neuropathy with mitochondrial dna deletions//epilepsy, progressive myoclonic, 5; epm5//epilepsy, progressive myoclonic, type 5//progressive myoclonic epilepsy caused by mutation in prickle2//progressive myoclonus epilepsy type 5//sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; sando//sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	TWNK;POLG	TWNK;POLG	https://raresource.nih.gov/literature/disease/0009998	0009998	607459	70595	C1843851	C537583		twinkle mtDNA helicase;DNA polymerase gamma, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"	0	0	45
Spinocerebellar ataxia type 21	sca21//sca21 spinocerebellar ataxia 21//spinocerebellar ataxia 21//spinocerebellar ataxia 21; sca21//spinocerebellar ataxia type 21	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"	0	0	16
Spinocerebellar ataxia with axonal neuropathy type 1	scan//scan1//spinocerebellar ataxia autosomal recessive with axonal neuropathy//spinocerebellar ataxia with axonal neuropathy//autosomal recessive spinocerebellar ataxia with axonal neuropathy//spinocerebellar ataxia type 1 with axonal neuropathy//spinocerebellar ataxia with axonal neuropathy type 1//spinocerebellar ataxia, autosomal recessive, with axonal neuropathy//spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1//spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1	TDP1	TDP1	https://raresource.nih.gov/literature/disease/0010000	0010000	607250	94124	C1846574			tyrosyl-DNA phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia with axonal neuropathy type 1"	0	0	1002
Congenital chloride diarrhea	chloride diarrhea, congenital, finnish type//chloridorrhea, congenital//cld//congenital chloridorrhea//congenital secretory diarrhea, chloride type//diar1//darrow-gamble disease//defective cl^-^/hco^-^>3< exchange in ileum and/or colon//diarrhea 1, secretory chloride, congenital//familial chloride diarrhea//slc26a3 secretory diarrhea//congenital chloride diarrhea//congenital chloride diarrhea finnish type//congenital chloride diarrhoea finnish type//congenital secretory chloride diarrhea 1//congenital secretory chloride diarrhea type 1//congenital secretory chloride diarrhoea 1//diarrhea 1, secretory chloride, congenital; diar1//secretory diarrhea caused by mutation in slc26a3	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 chloride diarrhea"	0	0	3513
Familial progressive cardiac conduction defect	familial lenègre disease//familial lev disease//familial lev-lenègre disease//familial pccd//familial progressive heart block//hereditary bundle branch defect	NKX2-5;TRPM4;SCN1B;SCN5A	NKX2-5;TRPM4;SCN1B;SCN5A	https://raresource.nih.gov/literature/disease/0010005	0010005	612838	871	C1879286			NK2 homeobox 5;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[]=Familial progressive cardiac conduction defect"	0	0	3
Immunodeficiency 61	agammaglobulinemia, x-linked, type 2//agmx2//agammaglobulinemia//agammaglobulinemia x-linked type 2//imd61//xla2//agammaglobulinemia x-linked type 2//agammaglobulinemia, x-linked, type 2; agmx2//immunodeficiency 61//type 2//x-linked	SH3KBP1	SH3KBP1	https://raresource.nih.gov/literature/disease/0010007	0010007			C1845903			SH3 domain containing kinase binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency 61"	0	0	7506
Self-improving dystrophic epidermolysis bullosa	deb, bullous dermolysis of the newborn//deb-bdn//dystrophic epidermolysis bullosa, neonatal//dystrophic epidermolysis bullosa, dominant neonatal//epidermolysis bullosa dystrophica, neonatal form//epidermolysis bullosa dystrophica, dominant neonatal form//mondon//self-improving deb//tbdn//transient bullous dermolysis of newborn//transient bullous dermolysis of the newborn//transient bullous dermolysis of the newborn; mondon//transient bullous dermolysis of the newborn; tbdn	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[]=Self-improving dystrophic epidermolysis bullosa"	0	0	9
Camptodactyly-tall stature-scoliosis-hearing loss syndrome	catshl syndrome//catshls//camptodactyly, tall stature, and hearing loss syndrome//camptodactyly-tall stature-scoliosis-deafness syndrome//camptodactyly, tall stature, and hearing loss syndrome; catshls//camptodactyly-tall stature-scoliosis-hearing loss syndrome	FGFR3	FGFR3	https://raresource.nih.gov/literature/disease/0010012	0010012	610474	85164	C1864852			fibroblast growth factor receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Camptodactyly-tall stature-scoliosis-hearing loss syndrome"	0	0	4
Fuchs endothelial corneal dystrophy	endoepithelial corneal dystrophy//fecd//late hereditary endothelial dystrophy	AGBL1;SLC4A11;ZEB1;TCF4;COL8A2	AGBL1;SLC4A11;ZEB1;TCF4;COL8A2	https://raresource.nih.gov/literature/disease/0010018	0010018	613267	98974	C0016781			AGBL carboxypeptidase 1;solute carrier family 4 member 11;zinc finger E-box binding homeobox 1;transcription factor 4;collagen type VIII alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fuchs endothelial corneal dystrophy"	0	0	631
Bruck syndrome 2	brks2//bruck syndrome 2; brks2//bruck syndrome caused by mutation in plod2//bruck syndrome type 2//bruck syndrome, 2//osteogenesis imperfecta with congenital joint contractures//plod2 bruck syndrome	PLOD2	PLOD2	https://raresource.nih.gov/literature/disease/0010023	0010023			C1836602			procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bruck syndrome 2"	0	0	4
Campomelic dysplasia	acampomelic campomelic dysplasia//acampomelic campomelic dysplasia with autosomal sex reversal//acampomelic campomelic dysplasias//campomelic dysplasia with autosomal sex reversal//camptomelic dysplasia//cmd//cmd1//cmpd//cmpd1//cmpd1/sra1//campomelic dwarfism//campomelic dwarfisms//campomelic dysplasia//campomelic dysplasia, acampomelic//campomelic dysplasias//campomelic dysplasias, acampomelic//campomelic syndrome//campomelic syndromes//camptomelic dysplasias//cmpd1 sra1//cmpd1 sra1s//dwarfism, campomelic//dwarfisms, campomelic//dysplasia, acampomelic campomelic//dysplasia, campomelic//dysplasia, camptomelic//dysplasias, acampomelic campomelic//dysplasias, campomelic//dysplasias, camptomelic//sra1, cmpd1//sra1s, cmpd1//syndrome, campomelic//syndromes, campomelic	SOX9	SOX9	https://raresource.nih.gov/literature/disease/0010027	0010027	602196	140	C1861922	D055036		SRY-box transcription factor 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Campomelic dysplasia"	0	0	3016
Benign recurrent intrahepatic cholestasis type 1	atp8b1 benign recurrent intrahepatic cholestasis//bric type 1//bric1//benign recurrent intrahepatic cholestasis 1//cholestasis, benign recurrent intrahepatic 1//mild atp8b1 deficiency//recurrent familial intrahepatic cholestasis 1//summerskill syndrome//benign recurrent intrahepatic cholestasis caused by mutation in atp8b1//benign recurrent intrahepatic cholestasis type 1//cholestasis, benign recurrent intrahepatic, 1//cholestasis, benign recurrent intrahepatic, 1; bric1//cholestasis, benign recurrent intrahepatic, type 1	ATP8B1	ATP8B1	https://raresource.nih.gov/literature/disease/0010028	0010028	243300	99960	C1855731	C535930		ATPase phospholipid transporting 8B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign recurrent intrahepatic cholestasis type 1"	0	0	13
Benign recurrent intrahepatic cholestasis type 2	bric type 2//bric2	ABCB11	ABCB11	https://raresource.nih.gov/literature/disease/0010029	0010029	605479	99961	C3489789	C535931		ATP binding cassette subfamily B member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Benign recurrent intrahepatic cholestasis type 2"	0	0	18
Aneurysm, intracranial berry, 2	anib2//aneurysm, intracranial berry, 2//aneurysm, intracranial berry, 2; anib2	ANIB2	ANIB2	https://raresource.nih.gov/literature/disease/0010033	0010033			C1837894			Aneurysm, intracranial berry, 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aneurysm, intracranial berry, 2"	0	0	None
Hydroxykynureninuria	kynureninase deficiency, partial//kynureninase deficiency//xanthurenic aciduria//encephalopathy due to hydroxykynureninuria//hydroxykynureninuria	KYNU	KYNU	https://raresource.nih.gov/literature/disease/0010039	0010039	236800	79155	C0268474			kynureninase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hydroxykynureninuria"	0	0	18
Burn-McKeown syndrome	bmks//bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance//branchio oculo facial syndrome hing type//burn mckeown syndrome//burn-mckeown syndrome; bmks//choanal atresia deafness cardiac defects dysmorphism//choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome//choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome//oculootofacial dysplasia//oofd	POLR1A;TXNL4A	POLR1A;TXNL4A	https://raresource.nih.gov/literature/disease/0010041	0010041	616462	1200	C1837822	C537411		RNA polymerase I subunit A;thioredoxin like 4A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Burn-McKeown syndrome"	0	0	14
Congenital bile acid synthesis defect type 2	akr1d1 congenital bile acid synthesis defect//basd2//cbas2//cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency//cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency//congenital bile acid synthesis defect type 2 (cbas2)//congenital bile acid synthesis defect, type 2//bile acid synthesis defect, congenital, 2//bile acid synthesis defect, congenital, 2; cbas2//bile acid synthesis defect, congenital, type 2//congenital bile acid synthesis defect 2//congenital bile acid synthesis defect caused by mutation in akr1d1//congenital bile acid synthesis defect type 2	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 type 2"	0	0	1
Congenital bile acid synthesis defect type 4	2-methylacyl-coa racemase deficiency//amacr deficiency//alpha-methyl-acyl-coa racemase deficiency//bas defect type 4//basd4//bile acid synthesis defect, congenital, 4//cbas4//cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid//cholestasis, intrahepatic, with defective conversion of//liver disease - retinitis pigmentosa - polyneuropathy - epilepsy//liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome//trihydroxycoprostanic acid in bile//trihydroxycoprostanic acid to cholic acid//bile acid synthesis defect, congenital, 4; cbas4//bile acid synthesis defect, congenital, type 4//congenital bile acid synthesis defect 4//congenital bile acid synthesis defect type 4//intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid	AMACR	AMACR	https://raresource.nih.gov/literature/disease/0010046	0010046	214950	79095	C3280428	C535444		alpha-methylacyl-CoA racemase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital bile acid synthesis defect type 4"	0	0	12
Central areolar choroidal dystrophy	areolar atrophy of the macula//cacd//cacd1//choroidal dystrophy, central areolar//choroidal sclerosis//central areolar choroidal sclerosis//choroidal dystrophy, central areolar 1//choroidal degenerations//choroidal dystrophy central areolar//gucy2d central areolar choroidal dystrophy//central areolar choroidal dystrophy//central areolar choroidal dystrophy caused by mutation in gucy2d//choroidal dystrophy//choroidal dystrophy, central areolar, 1//choroidal dystrophy, central areolar, 1; cacd1//neurodegenerative disease of optic choroid//optic choroid neurodegenerative disease	GUCA1A;GUCY2D;PRPH2	GUCA1A;GUCY2D;PRPH2	https://raresource.nih.gov/literature/disease/0010049	0010049	613105	75377	C1536451	C535358		guanylate cyclase activator 1A;guanylate cyclase 2D, retinal;peripherin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Central areolar choroidal dystrophy"	0	0	1424
Bietti crystalline dystrophy	bcd//bietti crystalline dystrophy//bietti tapetoretinal degeneration with marginal corneal dystrophy//bietti crystalline corneoretinal dystrophy//bietti crystalline retinopathy//bietti crystalline corneoretinal dystrophy; bcd//bietti's crystalline corneoretinal 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 dystrophy"	0	0	283
Limb-mammary syndrome	lms//limb mammary syndrome//mammary hypoplasia, ectrodactyly, and other hand-foot anomalies//mammary hypoplasia, ectrodactyly, and other hand/foot anomalies//tp63-related disorders//limb-mammary syndrome//limb-mammary syndrome; lms	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"	0	0	1430
Eye defects-arachnodactyly-cardiopathy syndrome	algaz//al gazali al talabani syndrome//al gazali syndrome//al gazali-al talabani syndrome//al gazali-lytle syndrome//al-gazali syndrome//eye defects arachnodactyly cardiopathy	B3GALT6	B3GALT6	https://raresource.nih.gov/literature/disease/0010054	0010054	609465	2725				beta-1,3-galactosyltransferase 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Eye defects-arachnodactyly-cardiopathy syndrome"	0	0	5
Mandibulofacial dysostosis-microcephaly syndrome	growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate//growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate//growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate//growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome//guion-almeida type//mandibulofacial dysostosis with microcephaly//mfdga//mfdm//mfdm syndrome//mandibulofacial dysostosis//mandibulofacial dysostosis, guion-almeida type//mandibulofacial dysostosis, guion-almeida type; mfdga//mandibulofacial dysostosis-microcephaly syndrome	EFTUD2	EFTUD2	https://raresource.nih.gov/literature/disease/0010056	0010056	610536	79113	C1864652			elongation factor Tu GTP binding domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibulofacial dysostosis-microcephaly syndrome"	0	0	131
Spondyloepimetaphyseal dysplasia, Geneviève type	geneviève type//nans deficiency//semd//semd genevieve type//semd, genevieve type//semd, geneviève type//semdg//semdg - spondyloepimetaphyseal dysplasia genevieve type//spondyloepimetaphyseal dysplasia genevieve type//spondyloepimetaphyseal dysplasia geneviève type//spondyloepimetaphyseal dysplasia, genevieve type//spondyloepimetaphyseal dysplasia, genevieve type; semdg//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, Geneviève type"	0	0	92
Diaphyseal medullary stenosis-bone malignancy syndrome	bdmf//bone dysplasia with malignant fibrous histiocytoma//bone dysplasia with medullary fibrosarcoma//bone dysplasia-medullary fibrosarcoma syndrome//dms-mfh//dmsmfh//diaphyseal medullary stenosis with malignant fibrous histiocytoma//diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome//hardcastle syndrome//hardcastle's syndrome//myopathy, limb-girdle, with bone fragility//diaphyseal medullary stenosis with malignant fibrous histiocytoma; dmsmfh//diaphyseal medullary stenosis-bone malignancy syndrome	MTAP	MTAP	https://raresource.nih.gov/literature/disease/0010072	0010072	112250	85182	C1300202	C536169		methylthioadenosine phosphorylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diaphyseal medullary stenosis-bone malignancy syndrome"	0	0	6
Infantile osteopetrosis with neuroaxonal dysplasia		OSTM1	OSTM1	https://raresource.nih.gov/literature/disease/0010082	0010082	600329	85179	C1838258			osteoclastogenesis associated transmembrane protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile osteopetrosis with neuroaxonal dysplasia"	0	0	96
Hepatic veno-occlusive disease-immunodeficiency syndrome	familial veno-occlusive disease with immunodeficiency//hepatic veno-occlusive disease with immunodeficiency//hepatic venoocclusive disease with immunodeficiency//vodi//vodi syndrome//veno-occlusive disease and immunodeficiency syndrome//hepatic veno-occlusive disease-immunodeficiency syndrome//hepatic venoocclusive disease with immunodeficiency; vodi	SP110	SP110	https://raresource.nih.gov/literature/disease/0010083	0010083	235550	79124	C1856128			SP110 nuclear body protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hepatic veno-occlusive disease-immunodeficiency syndrome"	0	0	8
Majeed syndrome	cda and crmo//chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis//chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis//chronic recurrent multifocal osteomyelitis, congenital//chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis//chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome//congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis//dyserythropoietic anemia, and neutrophilic dermatosis//majeed syndrome; mjds//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"	0	0	52
TARP syndrome	pierre robin syndrome with congenital heart malformation and clubfoot//pierre robin sequence - congenital heart defect - talipes//pierre robin sequence, congenital heart defect, talipes syndrome//pierre robin sequence-congenital heart defect-talipes syndrome//pierre robin syndrome - congenital heart defect - talipes//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//tarp (talipes equinovarus, atrial septal defect, robin sequence, persistence of left superior vena cava) syndrome//tarps//talipes equinovarus - atrial septal defect - robin sequence - persistence of the left superior vena cava//talipes equinovarus-atrial septal defect-robin sequence-persistence of the left superior vena cava syndrome//tarp syndrome//tarp syndrome; 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"	0	0	29
Sotos syndrome	cerebral gigantism//cerebral gigantisms//cerebral giant//distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development//gigantism, cerebral//gigantisms, cerebral//sotos//sequence, sotos//soto syndrome//soto's syndrome//sotos sequence//sotos' syndrome//syndrome, sotos//syndrome, sotos'//cerebral gigantism syndrome	NSD1;SETD2;APC2	NSD1;SETD2;APC2	https://raresource.nih.gov/literature/disease/0010091	0010091	617169	821	C0175695	D058495		nuclear receptor binding SET domain protein 1;SET domain containing 2, histone lysine methyltransferase;APC regulator of WNT signaling pathway 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sotos syndrome"	0	0	614
Hemochromatosis type 2	hemochromatosis, juvenile//hemochromatosis, type 2//hfe2//hfe2a//hjv hemochromatosis type 2//hemochromatosis juvenile//hemochromatosis, type 2a//iron overload disease juvenile//jh//jhh//juvenile hemochromatosis//juvenile hereditary hemochromatosis//hemochromatosis type 2//hemochromatosis type 2 caused by mutation in hjv//hemochromatosis type 2a//hemochromatosis, type 2a; hfe2a	HJV;HAMP	HJV;HAMP	https://raresource.nih.gov/literature/disease/0010092	0010092	613313	79230	C0268060	C537247		hemojuvelin BMP co-receptor;hepcidin antimicrobial peptide	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 2"	0	0	204
Hemochromatosis type 3	hemochromatosis due to defect in transferrin receptor 2//hfe3//hereditary hemochromatosis type 3//tfr2 (transferrin receptor 2 gene) related hemochromatosis//tfr2 hereditary hemochromatosis//tfr2-related hereditary hemochromatosis//tfr2-related hemochromatosis//hemochromatosis type 3//hemochromatosis, type 3//hemochromatosis, type 3; hfe3//hereditary hemochromatosis caused by mutation in tfr2	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"	0	0	16
Hemochromatosis type 4	autosomal dominant hereditary hemochromatosis//ferroportin disease//hemochromatosis due to defect in ferroportin//hemochromatosis, autosomal dominant//hfe4//slc40a1 hereditary hemochromatosis//slc40a1-related hereditary hemochromatosis//hemochromatosis type 4//hemochromatosis, type 4//hemochromatosis, type 4; hfe4//hereditary hemochromatosis caused by mutation in slc40a1	SLC40A1	SLC40A1	https://raresource.nih.gov/literature/disease/0010094	0010094	606069	139491	C1853733	C537249		solute carrier family 40 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemochromatosis type 4"	0	0	106
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//hlrcc//hereditary leiomyomatosis and renal cell carcinoma//hereditary leiomyomatosis and renal cell carcinoma syndrome//hereditary leiomyomatosis//hereditary leiomyomatosis with renal carcinoma//hereditary multiple cutaneous leiomyomas//leiomyoma, multiple cutaneous//leiomyomatosis and renal cell cancer, hereditary//lrcc//leiomyoma, hereditary multiple, of skin//mcl//mcul//mcul1//multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma//multiple cutaneous and uterine leiomyomas//multiple cutaneous and uterine leiomyomata//multiple cutaneous and uterine leiomyomata 1//multiple cutaneous and uterine leiomyomatosis//multiple cutaneous leiomyomas//multiple cutaneous leiomyomata//reed syndrome//reed's syndrome//hereditary leiomyomatosis and renal cell cancer//hereditary leiomyomatosis and renal cell cancer syndrome//hereditary leiomyomatosis and renal cell cancer; hlrcc//leiomyomatosis familial	FH	FH	https://raresource.nih.gov/literature/disease/0010096	0010096	150800	523	C1708350			fumarate hydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary leiomyomatosis and renal cell cancer"	0	0	3914
Gamma-glutamyl transpeptidase deficiency	gamma-glutamyltransferase deficiency//gamma-glutamyltranspeptidase deficiency//ggt deficiency//ggt1 deficiency//gtg deficiency//gamma-glutamyl transferase deficiency//glutathioninuria//glutathionuria//gamma-glutamyl transpeptidase 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			gamma-glutamyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Gamma-glutamyl transpeptidase deficiency"	0	0	34
Pseudoxanthoma elasticum, forme fruste	pseudoxanthoma elasticum, heterozygous//pseudoxanthoma elasticum, forme fruste	ABCC6	ABCC6	https://raresource.nih.gov/literature/disease/0010104	0010104			C1867450			ATP binding cassette subfamily C member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudoxanthoma elasticum, forme fruste"	0	0	None
Osteopetrosis-hypogammaglobulinemia syndrome	autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia//autosomal recessive osteopetrosis type 7//optb7//osteopetrosis, osteoclast-poor, with hypogammaglobulinemia//osteopetrosis autosomal recessive 7//osteopetrosis osteoclast-poor with hypogammaglobulinemia//tnfrsf11a osteopetrosis (disease)//tnfrsf11a- related autosomal recessive osteopetrosis//autosomal recessive osteopetrosis 7//osteoclast-poor osteopetrosis with hypogammaglobulinemia//osteopetrosis (disease) caused by mutation in tnfrsf11a//osteopetrosis, autosomal recessive 7//osteopetrosis, autosomal recessive 7; optb7//osteopetrosis, autosomal recessive type 7//osteopetrosis-hypogammaglobulinemia syndrome	TNFRSF11A	TNFRSF11A	https://raresource.nih.gov/literature/disease/0010106	0010106	612301	178389	C2676766			TNF receptor superfamily member 11a	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteopetrosis-hypogammaglobulinemia syndrome"	0	0	1
Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	1//cms id//cms id, formerly//cms1d//cms1d, formerly//cms4c//congenital myasthenic syndrome associated with acetylcholine receptor deficiency//fim1//fim1, formerly//myasthenia, familial infantile, 1, formerly//myasthenic syndrome, congenital, type id//myasthenic syndrome//myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency//congenital//congenital myasthenic syndrome 4c associated with acetylcholine receptor deficiency//congenital myasthenic syndrome type 4c//congenital myasthenic syndrome type id//familial infantile//familial infantile myasthenia 1//formerly//myasthenia//myasthenia, familial infantile, 1//myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency//myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency; cms4c//type id	CHRNE	CHRNE	https://raresource.nih.gov/literature/disease/0010108	0010108		98913	C1837091			cholinergic receptor nicotinic epsilon subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency"	0	0	5243
Cornelia de Lange syndrome	amstelodamensis, typus degenerativus//amsterdam dwarf//bdls//brachmann-de lange syndrome//brachmann de lange syndrome//bruck-de lange syndrome//cdl//cdls//cdls1//cdls, x linked//cdls, x-linked//cdls2//cdlss, x-linked//cornelia de lange syndrome 1; cdls1//cornelia de lange syndrome//cornelia de lange syndrome type 1//cornelia de lange syndrome 1//cornelia de lange syndrome 2//cornelia de lange syndrome 3//cornelia de lange syndrome, x linked//cornelia de lange syndrome, x-linked//cornelia de lange syndrome caused by mutation in nipbl//de lange syndrome//de lange's syndrome//degenerative amstelodamensis typus//degenerative amsterodamensis typus//nipbl cornelia de lange syndrome//syndrome, brachmann-de lange//typus degenerativus amstelodamensis//x-linked cdls//x-linked cdlss	RAD21;NIPBL;SMC3;BRD4;SMC1A;HDAC8	RAD21;NIPBL;SMC3;BRD4;SMC1A;HDAC8	https://raresource.nih.gov/literature/disease/0010109	0010109	614701	199	C0270972	D003635		RAD21 cohesin complex component;NIPBL cohesin loading factor;structural maintenance of chromosomes 3;bromodomain containing 4;structural maintenance of chromosomes 1A;histone deacetylase 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cornelia de Lange syndrome"	0	0	1132
Ichthyosis-hypotrichosis syndrome	arci11//arih//autosomal recessive ichthyosis with hypotrichosis//hypotrichosis-congenital ichthyosis syndrome//ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis//ichthyosis with hypotrichosis, autosomal recessive//ifah//ifah syndrome//ihs//ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis//ichthyosis-follicular atrophoderma-hypotrichosis syndrome//ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome//autosomal recessive congenital ichthyosis 11//autosomal recessive congenital ichthyosis type 11//ichthyosis, congenital, autosomal recessive 11//ichthyosis, congenital, autosomal recessive 11; arci11//ichthyosis, congenital, autosomal recessive type 11//ichthyosis-hypotrichosis syndrome	ST14	ST14	https://raresource.nih.gov/literature/disease/0010116	0010116	602400	91132	C1835851			ST14 transmembrane serine protease matriptase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ichthyosis-hypotrichosis syndrome"	0	0	540
Oguchi disease	csnbo1//congenital stationary night blindness, oguchi type//night blindness, congenital stationary, oguchi type 1//night blindness, congenital//oguchi disease 1//oguchi disease caused by mutation in sag//oguchi disease type 1//oguchi syndrome//oguchi type//oguchi's disease//sag oguchi disease//stationary night blindness, oguchi type//congenital stationary night blindness oguchi type 1	GRK1;SAG	GRK1;SAG	https://raresource.nih.gov/literature/disease/0010118	0010118	258100	75382	C1306122	C537743		G protein-coupled receptor kinase 1;S-antigen visual arrestin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oguchi disease"	0	0	127
MORM syndrome	intellectual disability - truncal obesity - retinal dystrophy - micropenis//intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome//intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome//morm (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome//morm syndrome//morms//mental retardation, truncal obesity, retinal dystrophy, and micropenis//mental retardation - truncal obesity - retinal dystrophy - micropenis//mental retardation, truncal obesity, retinal dystrophy and micropenis//mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome//intellectual disability, truncal obesity, retinal dystrophy and micropenis//intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome//intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome; morms//mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome//mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome; morms//mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome	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"	0	0	4
GM1 gangliosidosis type 2	gangliosidosis, generalized gm1, juvenile type//gangliosidosis, generalized gm1, late-infantile type//gangliosidosis, generalized gm1, type 2//gangliosidosis, generalized gm1, type ii//gm1-gangliosidosis, type 2//gm1-gangliosidosis, type ii//gm1g2//gangliosidosis generalized gm1 juvenile type//gangliosidosis generalized gm1 type 2//juvenile gm1 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"	0	0	10
Leydig cell hypoplasia due to LHB deficiency	46,xy dsd due to lhb deficiency//46,xy dsd due to luteinizing hormone subunit beta deficiency//46,xy disorder of sex development due to lhb deficiency//46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency//eunuchoidism with spermatogenesis, normal fsh and low or normal interstitial cell-stimulating hormone (icsh)//fertile eunuch syndrome//fertile eunuch//hh23//hypogonadotropic hypogonadism 23 without anosmia//isolated lutropin deficiency//lhb hypogonadotropic hypogonadism//leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency//pasqualini syndrome//hypogonadotropic hypogonadism 23 with or without anosmia//hypogonadotropic hypogonadism 23 without anosmia; hh23//hypogonadotropic hypogonadism caused by mutation in lhb//leydig cell hypoplasia due to lhb deficiency	LHB	LHB	https://raresource.nih.gov/literature/disease/0010127	0010127	228300	325448				luteinizing hormone subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leydig cell hypoplasia due to LHB deficiency"	0	0	18
Isolated follicle stimulating hormone deficiency	follicle-stimulating hormone deficiency, isolated//fshb hypogonadotropic hypogonadism//hh24//isolated fsh (follicle stimulating hormone) deficiency//isolated fsh deficiency//isolated follicle-stimulating hormone (fsh) deficiency//hypogonadotropic hypogonadism 24 without anosmia//hypogonadotropic hypogonadism 24 without anosmia; hh24//hypogonadotropic hypogonadism caused by mutation in fshb//isolated follicle stimulating hormone deficiency//isolated follicle-stimulating hormone deficiency	FSHB	FSHB	https://raresource.nih.gov/literature/disease/0010128	0010128	229070	52901	C1856716	C537070		follicle stimulating hormone subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated follicle stimulating hormone deficiency"	0	0	2915
Isolated thyroid-stimulating hormone deficiency	chng4//congenital nongoitrous hypothyroidism//hypothyroidism, congenital, nongoitrous, 4//isolated tsh deficiency//isolated thyrotropic hormone deficiency//isolated thyrotropin deficiency//pituitary cretinism//thyroid-stimulating hormone deficiency//thyrotropin deficiency, isolated//thyrotropin, biologically inactive//tsh deficiency//thyroid-stimulating hormone, deficiency of//congenital nongoitrous hypothryoidism 4//congenital nongoitrous hypothyroidism 4//hypothyroidism, congenital, nongoitrous, 4; chng4//hypothyroidism, congenital, nongoitrous, type 4//isolated thyroid-stimulating hormone deficiency	TSHB	TSHB	https://raresource.nih.gov/literature/disease/0010129	0010129	275100	90674				thyroid stimulating hormone subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated thyroid-stimulating hormone deficiency"	0	0	178
Monosomy 22q13.3	22q13 deletion syndrome//22q13 deletion//22q13.3 deletion syndrome//22q13.3 deletion//chromosome 22q13.3 deletion syndrome//deletion 22q13 syndrome//deletion 22q13.3 syndrome//monosomy 22q13//phelan-mcdermid syndrome; phmds//phmds//phelan mcdermid syndrome//phelan-mcdermid syndrome//telomeric 22q13 monosomy syndrome//monosomy 22q13 syndrome//monosomy type 22q13	SHANK3	SHANK3	https://raresource.nih.gov/literature/disease/0010130	0010130	606232	48652	C1853490			SH3 and multiple ankyrin repeat domains 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monosomy 22q13.3"	0	0	347
Hereditary motor and sensory neuropathy, Okinawa type	hereditary motor and sensory neuropathy, proximal type//hereditary motor and sensory neuropathy, proximal type, formerly//hmsno//hmsnp//hmsnp, formerly//hereditary motor and sensory neuropathy//hereditary motor and sensory neuropathy okinawa type//hereditary motor and sensory neuropathy proximal type//neuropathy, hereditary motor and sensory, okinawa type//hereditary motor and sensory neuropathy, okinawa type//neuropathy, hereditary motor and sensory, okinawa type; hmsno//proximal type	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"	0	0	342
Charcot-Marie-Tooth disease type 4G	charcot-marie-tooth disease, autosomal recessive, type 4g//charcot-marie-tooth disease, type 4g//charcot-marie-tooth neuropathy, type 4g//cmt4g//charcot-marie-tooth disease type 4 caused by mutation in hk1//charcot-marie-tooth neuropathy type 4g//hereditary motor and sensory neuropathy, russe type//hk1 charcot-marie-tooth disease type 4//hmsnr//hereditary motor and sensory neuropathy//neuropathy, hereditary motor and sensory, russe type//russe type//autosomal recessive charcot-marie-tooth disease type 4g//hereditary motor and sensory neuropathy russe type//neuropathy, hereditary motor and sensory, russe type; hmsnr	HK1	HK1	https://raresource.nih.gov/literature/disease/0010132	0010132	605285	99953	C1854449			hexokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 4G"	0	0	345
Distal hereditary motor neuropathy, Jerash type	autosomal recessive distal spinal muscular atrophy type 2//dsma2//hmnj//hereditary motor neuropathy, jerash type//hereditary motor neuropathy, jerash type//mndj//motor neuropathy, distal, jerash type//neuronopathy, distal hereditary motor, jerash type//neuropathy, distal hereditary motor, jerash type//neuropathy, distal hereditary motor, jerash type//spinal muscular atrophy, jerash type//spinal muscular atrophy, distal, autosomal recessive, 2//autosomal recessive distal spinal muscular atrophy 2//dhmnj//distal hereditary motor neuropathy jerash type//distal hereditary motor neuropathy, jerash type//spinal muscular atrophy jerash type//spinal muscular atrophy, distal, autosomal recessive, 2; dsma2//spinal muscular atrophy, distal, autosomal recessive, type 2	SIGMAR1	SIGMAR1	https://raresource.nih.gov/literature/disease/0010133	0010133	605726	139552	C1854023			sigma non-opioid intracellular receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal hereditary motor neuropathy, Jerash type"	0	0	1
Primary dystonia, DYT4 type	autosomal dominant torsion dystonia-4//dystonia musculorum deformans 4//dyt-tubb4a//dyt4//hereditary whispering dysphonia//primary dystonia dyt4 type//primary dystonia type 4//torsion dystonia 4, autosomal dominant type//whispering dysphonia, hereditary//whispering dysphonia//dystonia 4, torsion, autosomal dominant//dystonia 4, torsion, autosomal dominant; dyt4//primary dystonia, dyt4 type//torsion dystonia 4//torsion dystonia type 4	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[]=Primary dystonia, DYT4 type"	0	0	24
Bohring-Opitz syndrome	bohring syndrome//bohring-opitz syndrome; bops//bops//bos//bos syndrome//bohring opitz syndrome//c-like syndrome//opitz trigonocephaly-like syndrome//oberklaid-danks syndrome	ASXL1	ASXL1	https://raresource.nih.gov/literature/disease/0010140	0010140	605039	97297	C0796232			ASXL transcriptional regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bohring-Opitz syndrome"	0	0	1174
Osteogenesis imperfecta type 2	lethal osteogenesis imperfecta//oi type 2//oi, type ii//oi, type 2//oi, type 2a osteogenesis imperfecta, type 2a//oi, type iia osteogenesis imperfecta, type iia//oi2//oi2a osteogenesis imperfecta 2a//oic//osteogenesis imperfecta congenita//osteogenesis imperfecta congenita, perinatal lethal form//osteogenesis imperfecta, type iia//osteogenesis imperfecta congenita perinatal lethal form//osteogenesis imperfecta type ii//perinatally lethal oi//vrolik type of osteogenesis imperfecta//vrolik disease//osteogenesis imperfecta type 2//osteogenesis imperfecta, type 2//osteogenesis imperfecta, type ii//osteogenesis imperfecta, type ii; oi2//perinatal lethal osteogenesis imperfecta congenita	PPIB;P3H1;CRTAP;MESD;COL1A2;COL1A1	PPIB;P3H1;CRTAP;MESD;COL1A2;COL1A1	https://raresource.nih.gov/literature/disease/0010142	0010142	166210	216804	C0268358			peptidylprolyl isomerase B;prolyl 3-hydroxylase 1;cartilage associated protein;mesoderm development LRP chaperone;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 2"	0	0	583
Dentinogenesis imperfecta type 3	brandywine type dentinogenesis imperfecta//dgi-iii//dentinogenesis imperfecta, shields type iii//dentinogenesis imperfecta//dentinogenesis imperfecta shields type 3//dentinogenesis imperfecta type iii//dentinogenesis imperfecta, shields type 3//shields type 3//dentinogenesis imperfecta type 3	DSPP	DSPP	https://raresource.nih.gov/literature/disease/0010144	0010144	125500	166265	C0399378			dentin sialophosphoprotein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dentinogenesis imperfecta type 3"	0	0	140
17p11.2 microduplication syndrome	17p11.2 duplication syndrome//chromosome 17p11.2 duplication syndrome//chromosome 17, trisomy 17p11 2//duplication 17p11 2//duplication 17p11.2 syndrome//ptls//potocki lupski syndrome//potocki-lupski syndrome//potocki-lupski syndrome (dup(17)(p11.2p11.2))//potocki-lupski syndrome; ptls//trisomy 17p11 2//trisomy 17p11.2	RAI1	RAI1	https://raresource.nih.gov/literature/disease/0010145	0010145	610883	1713	C1970482	C536578		retinoic acid induced 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=17p11.2 microduplication syndrome"	0	0	99
BOR syndrome	bof syndrome//bor//bor syndrome//bor1//branchiootorenal dysplasia//branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging//branchio oculo facial syndrome//branchio oto renal syndrome//branchio-oculo-facial syndrome//branchio-oto-renal syndrome//branchio-otorenal dysplasia//branchio-otorenal syndrome//branchiooculofacial syndrome//branchiootorenal syndrome 1//branchiootorenal syndrome 2//branchiootorenal syndrome//dysplasia, branchiootorenal//hemangiomatous branchial clefts lip pseudocleft syndrome//hemangiomatous branchial clefts-lip pseudocleft syndrome//lee root fenske syndrome//lip pseudocleft hemangiomatous branchial cyst syndrome//lip pseudocleft-hemangiomatous branchial cyst syndrome//melnick-fraser syndrome//melnick fraser syndrome//syndrome, bof//branchiootorenal syndrome 1; bor1//branchiootorenal syndrome type 1	SIX1;EYA1;SIX5	SIX1;EYA1;SIX5	https://raresource.nih.gov/literature/disease/0010147	0010147	113650	107	C0265234	D019280		SIX homeobox 1;EYA transcriptional coactivator and phosphatase 1;SIX homeobox 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BOR syndrome"	0	0	353
Branchiootic syndrome	anterior segment anomalies with or without cataract//bo syndrome 1//bo syndrome//bor//bos1//branchiootic dysplasia//eya1 branchiootic syndrome//branchiootic syndrome//branchiootic syndrome 1//branchiootic syndrome 1; bos1//branchiootic syndrome caused by mutation in eya1//branchiootic syndrome type 1	EYA1;SIX1	EYA1;SIX1	https://raresource.nih.gov/literature/disease/0010148	0010148	602588	52429				EYA transcriptional coactivator and phosphatase 1;SIX homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Branchiootic syndrome"	0	0	119
Osteogenesis imperfecta, type viii	oi type viii//oi, type viii//oi, type 8//oi, type 8 osteogenesis imperfecta, type 8//oi, type viii osteogenesis imperfecta, type viii//oi8//oi8 osteogenesis imperfecta 8//oi//osteogenesis imperfecta type 8//osteogenesis imperfecta type viii//p3h1 osteogenesis imperfecta//osteogenesis imperfecta caused by mutation in p3h1//osteogenesis imperfecta, type 8//osteogenesis imperfecta, type viii//osteogenesis imperfecta, type viii; oi8//type viii	P3H1	P3H1	https://raresource.nih.gov/literature/disease/0010152	0010152			C1970458			prolyl 3-hydroxylase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type viii"	0	0	2937
Pulmonary venoocclusive disease	diseases, pulmonary veno-occlusive//obstructive disease of the pulmonary veins//pvod//pvod1//pulmonary veno occlusive disease//pulmonary veno-occlusive diseases//pulmonary venoocclusive disease//pulmonary venoocclusive diseases//veno occlusive disease, pulmonary//veno-occlusive disease, pulmonary//veno-occlusive diseases, pulmonary//venoocclusive disease, pulmonary//venoocclusive diseases, pulmonary//pulmonary capillary hemangiomatosis//pulmonary veno-occlusive disease//pulmonary veno-occlusive disease (disorder)//pulmonary venoocclusive disease 1, autosomal dominant//pulmonary venoocclusive disease 1, autosomal dominant; pvod1	BMPR2;EIF2AK4	BMPR2;EIF2AK4	https://raresource.nih.gov/literature/disease/0010153	0010153	265450	31837	C0034091	D011668		bone morphogenetic protein receptor type 2;eukaryotic translation initiation factor 2 alpha kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary venoocclusive disease"	0	0	693
Joubert syndrome 2	cerebellooculorenal syndrome 2//cors2//jbts2//joubert syndrome 2; 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			C1842577			transmembrane protein 216	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome 2"	0	0	3
Joubert syndrome with ocular defect	jbts3//js-o//joubert syndrome 3//joubert syndrome with ocular anomalies//joubert syndrome with retinopathy	AHI1;INPP5E;MKS1;CEP120;CEP41	AHI1;INPP5E;MKS1;CEP120;CEP41	https://raresource.nih.gov/literature/disease/0010168	0010168	614464	220493				Abelson helper integration site 1;inositol polyphosphate-5-phosphatase E;MKS transition zone complex subunit 1;centrosomal protein 120;centrosomal protein 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with ocular defect"	0	0	None
Joubert syndrome with renal defect	jbts4//js-r//joubert syndrome 4//joubert syndrome 4; jbts4//joubert syndrome type 4//joubert syndrome with renal anomalies	RPGRIP1L;TMEM237;NPHP1	RPGRIP1L;TMEM237;NPHP1	https://raresource.nih.gov/literature/disease/0010169	0010169	614424	220497				RPGRIP1 like;transmembrane protein 237;nephrocystin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Joubert syndrome with renal defect"	0	0	None
Hereditary cryohydrocytosis with normal stomatin	chc//cryohydrocytosis due to band 3 blackburn//cryohydrocytosis due to band 3 hemel//cryohydrocytosis due to band 3 hurstpierpoint//cryohydrocytosis//pseudohyperkalemia cardiff//stomatocytosis, cold-sensitive//cryohydrocytosis; chc//hereditary cryohydrocytosis with normal stomatin	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0010184	0010184	185020	398088				solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary cryohydrocytosis with normal stomatin"	0	0	3167
Angioma serpiginosum, x-linked	angioma serpiginosum//angioma serpiginosum, x-linked	AGSPX	AGSPX	https://raresource.nih.gov/literature/disease/0010188	0010188		95429	C4721404			Angioma serptiginosum, X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Angioma serpiginosum, x-linked"	0	0	77
Subcutaneous panniculitis-like T-cell lymphoma	sptcl//subcutaneous panniculitic t-cell lymphoma//subcutaneous panniculitic cutaneous t-cell lymphoma//t-cell lymphoma, subcutaneous panniculitis-like//t-cell lymphoma, subcutaneous panniculitis-like; sptcl//subcutaneous panniculitis-like 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"	0	0	468
Optic atrophy 6	opa6//optic atrophy, congenital or early infantile, autosomal recessive//optic atrophy 6//optic atrophy 6; opa6	OPA6	OPA6	https://raresource.nih.gov/literature/disease/0010200	0010200			C1850281			Optic atrophy 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 6"	0	0	None
Optic atrophy 5	opa5//optic atrophy 5//optic atrophy 5; opa5	DNM1L	DNM1L	https://raresource.nih.gov/literature/disease/0010201	0010201			C1853139			dynamin 1 like	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Optic atrophy 5"	0	0	None
2q37 microdeletion syndrome	2q37 deletion syndrome//albright hereditary osteodystrophy-like syndrome//albright hereditary osteodystrophy type 3//albright's hereditary osteodystrophy-like syndrome//bdmr//brachydactyly-mental retardation syndrome//brachydactyly-intellectual disability syndrome//brachydactyly-intellectual disability//chromosome 2, monosomy 2q37//chromosome 2q37 deletion syndrome//del(2)(q37)//deletion 2q37//deletion 2q37-qter//monosomy 2q37//monosomy 2q37qter//brachydactyly intellectual disability syndrome//brachydactyly mental retardation syndrome//monosomy 2q37-qter	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[]=2q37 microdeletion syndrome"	0	0	45
Autosomal dominant optic atrophy and cataract	adoac//autosomal dominant optic atrophy type 3//opa3//opa3, autosomal dominant//optic atrophy 3, autosomal dominant//optic atrophy and cataract, autosomal dominant//optic atrophy 3//optic atrophy 3 with cataract//optic atrophy, cataract, and neurologic disorder//autosomal dominant//autosomal dominant optic atrophy 3//autosomal dominant optic atrophy and cataract//optic atrophy 3, autosomal dominant; opa3	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[]=Autosomal dominant optic atrophy and cataract"	0	0	356
Bardet-biedl syndrome 5	bbs5//bbs5 bardet-biedl syndrome//bardet-biedl syndrome 5//bardet-biedl syndrome 5; bbs5//bardet-biedl syndrome caused by mutation in bbs5//bardet-biedl syndrome type 5	BBS5	BBS5	https://raresource.nih.gov/literature/disease/0010204	0010204			C3892039			Bardet-Biedl syndrome 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 5"	0	0	1
Bardet-biedl syndrome 6	bbs6//bardet-biedl syndrome 6//bardet-biedl syndrome 6; bbs6//bardet-biedl syndrome type 6	MKKS	MKKS	https://raresource.nih.gov/literature/disease/0010205	0010205			C1858054			MKKS centrosomal shuttling protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 6"	0	0	69
Bardet-biedl syndrome 7	bbs7//bbs7 bardet-biedl syndrome//bardet-biedl syndrome 7//bardet-biedl syndrome 7; bbs7//bardet-biedl syndrome caused by mutation in bbs7//bardet-biedl syndrome type 7	BBS7	BBS7	https://raresource.nih.gov/literature/disease/0010206	0010206			C1859565			Bardet-Biedl syndrome 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 7"	0	0	2
Bardet-biedl syndrome 8	bbs8//bardet-biedl syndrome 8//bardet-biedl syndrome 8; bbs8//bardet-biedl syndrome caused by mutation in ttc8//bardet-biedl syndrome type 8//ttc8 bardet-biedl syndrome	TTC8	TTC8	https://raresource.nih.gov/literature/disease/0010207	0010207			C1859566			tetratricopeptide repeat domain 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 8"	0	0	1
Bardet-biedl syndrome 9	bbs9//bbs9 bardet-biedl syndrome//bardet-biedl syndrome 9//bardet-biedl syndrome 9; bbs9//bardet-biedl syndrome caused by mutation in bbs9//bardet-biedl syndrome type 9	BBS9	BBS9	https://raresource.nih.gov/literature/disease/0010208	0010208			C1859567			Bardet-Biedl syndrome 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 9"	0	0	None
Bardet-biedl syndrome 10	bbs//bbs10//bbs10 bardet-biedl syndrome//bardet-biedl syndrome 10//bardet-biedl syndrome 10; bbs10//bardet-biedl syndrome caused by mutation in bbs10//bardet-biedl syndrome type 10	BBS10	BBS10	https://raresource.nih.gov/literature/disease/0010209	0010209		110	C1859568			Bardet-Biedl syndrome 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 10"	0	0	849
Bardet-biedl syndrome 11	bbs//bbs11//bardet-biedl syndrome 11//bardet-biedl syndrome 11; bbs11//bardet-biedl syndrome caused by mutation in trim32//bardet-biedl syndrome type 11//trim32 bardet-biedl syndrome	TRIM32	TRIM32	https://raresource.nih.gov/literature/disease/0010210	0010210		110	C1859569			tripartite motif containing 32	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 11"	0	0	85
Bardet-biedl syndrome 12	bbs//bbs12//bbs12 bardet-biedl syndrome//bardet-biedl syndrome 12//bardet-biedl syndrome 12; bbs12//bardet-biedl syndrome caused by mutation in bbs12//bardet-biedl syndrome type 12	BBS12	BBS12	https://raresource.nih.gov/literature/disease/0010211	0010211		110	C1859570			Bardet-Biedl syndrome 12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bardet-biedl syndrome 12"	0	0	849
Neonatal intrahepatic cholestasis due to citrin deficiency	cholestasis, neonatal intrahepatic, caused by citrin deficiency//citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia//citrin deficiency//citrullinemia, type ii, neonatal-onset//niccd//neonatal intrahepatic cholestasis caused by citrin deficiency//neonatal-onset citrullinemia type 2//neonatal-onset citrullinemia type ii//neonatal intrahepatic cholestasis due to citrin deficiency	SLC25A13	SLC25A13	https://raresource.nih.gov/literature/disease/0010214	0010214	605814	247598	C1853942			solute carrier family 25 member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal intrahepatic cholestasis due to citrin deficiency"	0	0	270
Citrullinemia type II	adult-onset citrin deficiency//adult-onset citrullinemia type 2//adult-onset citrullinemia type ii//adult-onset type ii citrullinemia,//citrin deficiency//ctln2//citrullinemia type 2//adult-onset type 2 citrullinemia//adult-onset type ii citrullinemia//citrullinemia type ii//citrullinemia, type ii, adult-onset; ctln2//citrullinemia, type ii, adult-onset	SLC25A13	SLC25A13	https://raresource.nih.gov/literature/disease/0010215	0010215	603471	247585	C1863844			solute carrier family 25 member 13	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Citrullinemia type II"	0	0	308
NDE1-related microhydranencephaly	hydranencephaly and microcephaly//mhac//microhydranencephaly//microhydranencephaly; mhac	NDE1	NDE1	https://raresource.nih.gov/literature/disease/0010216	0010216	605013	443162				nudE neurodevelopment protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=NDE1-related microhydranencephaly"	0	0	10
Spondyloepiphyseal dysplasia with metatarsal shortening	czech dysplasia, metatarsal type//czech dysplasia//czech dysplasia metatarsal type//pseudorheumatoid dysplasia, progressive, with hypoplastic toes//progressive pseudorheumatoid dysplasia with hypoplastic toes//pseudorheumatoid dysplasia progressive, with hypoplastic toes//sed with metatarsal shortening//spondyloepiphyseal dysplasia with precocious osteoarthritis//spondyloarthropathy with short third and fourth toes//metatarsal type	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"	0	0	10
Isobutyryl-CoA dehydrogenase deficiency	acad8 deficiency//acyl-coa dehydrogenase family, member 8, deficiency of//acyl-coaa dehydrogenase family, member 8, deficiency of//deficiency of isobutyryl-coa dehydrogenase//deficiency of isobutyryl-coenzyme a dehydrogenase//ibd deficiency//ibdd//isobutyric aciduria//isobutyryl-coa dehydrogenase deficiency//isobutyryl-coenzyme a dehydrogenase deficiency	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[]=Isobutyryl-CoA dehydrogenase deficiency"	0	0	33
Multiple endocrine neoplasia type 2B	mea 2b//mea iib//men 2b//men 2b - multiple endocrine neoplasia type 2b//men 2b syndrome//men 3//men 3 - multiple endocrine neoplasia type 3//men 3 syndrome//men iib//men iii//men type iib//men, type 3//men2b//men3, formerly//mucosal neuroma syndrome//multiple endocrine neoplasia, type iib//multiple endocrine neoplasia, type iii//multiple endocrine neoplasia, type iii, formerly//mucosal neuroma syndromes//multiple endocrine neoplasia, type 2b//multiple endocrine neoplasms type 2b//multiple endocrine neoplasia type 3//multiple endocrine neoplasia, type 3//multiple endocrine neoplasia, type 3 (formerly)//neuromata, mucosal, with endocrine tumors//neoplasia, multiple endocrine type 2b//neoplasms, multiple endocrine type 2b//neuroma syndrome, mucosal//syndrome, wagenmann-froboese//wagenmann-froboese syndrome//wagenmann froboese syndrome//men type 2b//multiple endocrine adenomatosis type iib//multiple endocrine neoplasia type 2b//multiple endocrine neoplasia type iib//multiple endocrine neoplasia type iii//multiple endocrine neoplasia, type iib; men2b	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"	0	0	236
COG1-CDG	cdg 2g//cdg iig//cdg syndrome type iig//cdg-iig//cdg2g//cdgii/cog1 cerebrocostomandibular-like syndrome//cdgiig//cog1-cdg (cdg-iig)//carbohydrate deficient glycoprotein syndrome type iig//congenital disorder of glycosylation, type iig//congenital disorder of glycosylation type 2g//congenital disorder of glycosylation type iig//congenital disorder of glycosylation, type iig; cdg2g	COG1	COG1	https://raresource.nih.gov/literature/disease/0010226	0010226	611209	263508	C2931011			component of oligomeric golgi complex 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG1-CDG"	0	0	2
Autosomal dominant limb-girdle muscular dystrophy type 1A	lgmd1//lgmd1, formerly//lgmd1a//lgmd1a, formerly//limb-girdle muscular dystrophy due to myotilin deficiency//limb-girdle muscular dystrophy type 1a//mfm3//muscular dystrophy, limb-girdle, type 1, formerly//muscular dystrophy, limb-girdle, type 1a, formerly//myopathy, myofibrillar, myotilin-related//myot autosomal dominant distal myopathy//myot autosomal dominant limb-girdle muscular dystrophy//myotilinopathy//muscular dystrophy, limb-girdle, type1a//muscular dystrophy, limb-girdle, type 1a//muscular dystrophy, proximal, type 1a//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//distal myotilinopathy//muscular dystrophy limb-girdle type 1a//muscular dystrophy, limb-girdle, type 1a; lgmd1a//myofibrillar myopathy 3//myofibrillar myopathy type 3//myopathy, myofibrillar, 3//myopathy, myofibrillar, 3; mfm3//myopathy, myofibrillar, type 3//proximal muscular dystrophy type 1a	MYOT	MYOT	https://raresource.nih.gov/literature/disease/0010229	0010229	609200	266	C1834659			myotilin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant limb-girdle muscular dystrophy type 1A"	0	0	46
Emery-dreifuss muscular dystrophy 2, autosomal dominant	autosomal dominant emery dreifuss muscular dystrophy//autosomal dominant emery-dreifuss muscular dystrophy//cardiomyopathy, dilated, with quadriceps myopathy//edmd2//edmd2 - autosomal dominant emery-dreifuss muscular dystrophy//emd2//emery-dreifuss muscular dystrophy, autosomal dominant//emery dreifuss muscular dystrophy 2//emery dreifuss muscular dystrophy, autosomal dominant//emery-dreifuss muscular dystrophy 2//emery-dreifuss muscular dystrophy 2, autosomal dominant//emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2//hauptmann-thannhauser muscular dystrophy//hauptmann thannhauser muscular dystrophy//lgmd1b//lgmd1b, formerly//lmna autosomal dominant limb-girdle muscular dystrophy//lmna-related dilated cardiomyopathy//lmna-related emery-dreifuss muscular dystrophy, autosomal//limb-girdle muscular dystrophy type 1b//limb-girdle muscular dystrophy, type 1b//muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant//muscular dystrophy, limb-girdle, type 1b, formerly//muscular dystrophy, proximal, type 1b, formerly//muscular dystrophy, emery-dreifuss, autosomal dominant//muscular dystrophy, limb-girdle, type 1b//muscular dystrophy, proximal, type 1b//scapuloilioperoneal atrophy with cardiopathy//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//cardiomyopathy//dilated//emery-dreifuss muscular dystrophy//formerly//limb-girdle//limb-girdle muscular dystrophy due to lamin a/c deficiency//muscular dystrophy//muscular dystrophy with early contractures and cardiomyopathy//muscular dystrophy, limb-girdle type 1b//muscular dystrophy, limb-girdle, type 1b; lgmd1b//proximal//proximal muscular dystrophy type 1b//type 1b//with quadriceps myopathy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0010230	0010230			C0410190			lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Emery-dreifuss muscular dystrophy 2, autosomal dominant"	0	0	32753
Biotin-thiamine-responsive basal ganglia disease	basal ganglia disease, biotin-responsive//bbgd//btbgd//biotin-responsive basal ganglia disease//encephalopathy, thiamine-responsive//thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)//thmd2//thiamine metabolism dysfunction syndrome 2//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//biotin-thiamine-responsive basal ganglia disease//thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); thmd2	SLC19A3	SLC19A3	https://raresource.nih.gov/literature/disease/0010237	0010237	607483	65284	C1843807	C537658		solute carrier family 19 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Biotin-thiamine-responsive basal ganglia disease"	0	0	65
Myostatin-related muscle hypertrophy	mslhp//muscle hypertrophy syndrome//muscle hypertrophy//myostatin related hypertrophy of muscle//muscle hypertrophy; mslhp//myostatin-related muscle hypertrophy	MSTN	MSTN	https://raresource.nih.gov/literature/disease/0010238	0010238	614160	275534	C2931112			myostatin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Myostatin-related muscle hypertrophy"	0	0	2075
H syndrome		SLC29A3	SLC29A3	https://raresource.nih.gov/literature/disease/0010239	0010239	602782	168569				solute carrier family 29 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=H syndrome"	0	0	102
Diamond-blackfan anemia 3	anemia diamond-blackfan 3//anemia, diamond-blackfan, 3//dba3//diamond-blackfan anemia type 3//diamond-blackfan anemia 3//diamond-blackfan anemia 3; dba3//diamond-blackfan anemia caused by mutation in rps24//rps24 diamond-blackfan anemia//rps24-related diamond-blackfan anemia	RPS24	RPS24	https://raresource.nih.gov/literature/disease/0010241	0010241			C1857719			ribosomal protein S24	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Diamond-blackfan anemia 3"	0	0	None
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//lipase deficiency, combined//lipase deficiency combined//combined lipase deficiency	LMF1	LMF1	https://raresource.nih.gov/literature/disease/0010244	0010244	246650	535453				lipase maturation factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial lipase maturation factor 1 deficiency"	0	0	19
Isolated Klippel-Feil syndrome	cervical fusion syndrome//cervical vertebral fusion//congenital cervical vertebral fusion//congenital fused cervical segments//dystrophia brevicollis congenita//dystrophia brevicollis congenitas//klippel feil syndrome//klippel-feil sequence//klippel-feil and turner syndrome//klippel-feil deformity, deafness and facial asymmetry//klippel-feil malformation//syndrome, klippel-feil//vertebral cervical fusion syndrome//autosomal dominant klippel-feil syndrome//congenital dystrophia brevicollis//congenital synostosis of cervical vertebrae	GDF3;GDF6;MEOX1	GDF3;GDF6;MEOX1	https://raresource.nih.gov/literature/disease/0010280	0010280	613702	2345	C0022738			growth differentiation factor 3;growth differentiation factor 6;mesenchyme homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated Klippel-Feil syndrome"	0	0	349
Desmosterolosis	desmosterolosis	DHCR24	DHCR24	https://raresource.nih.gov/literature/disease/0010283	0010283	602398	35107	C1865596			24-dehydrocholesterol reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Desmosterolosis"	0	0	25
Rolandic epilepsy	bcects//becrs//bects//benign epilepsy of childhood with centrotemporal spikes//benign rolandic epilepsy//bre//benign childhood epilepsy with centro temporal spikes//benign childhood epilepsy with centro-temporal spikes//benign childhood epilepsy with centrotemporal spikes//benign epilepsy with centrotemporal spikes//benign rolandic epilepsy of childhood//benign epilepsy of childhood with centrotemporal spikes (becct)//benign epilepsy with centro-temporal spikes (bects)//benign familial epilepsy of childhood with rolandic spikes//benign rolandic epilepsy (bre)//benign rolandic epilepsy of childhood (brec)//centralopathic epilepsy//centrotemporal epilepsy//centralopathic epilepsies//centrotemporal epilepsies//ect//epilepsies, centralopathic//epilepsies, centrotemporal//epilepsies, rolandic//epilepsies, temporal-central focal//epilepsy, benign rolandic//epilepsy, centralopathic//epilepsy, centrotemporal//epilepsy, rolandic//epilepsy, rolands//epilepsy, sylvian//epilepsy, temporal-central focal//focal epilepsies, temporal-central//focal epilepsy, temporal-central//rolandic epilepsies//rolandic epilepsy, benign//rolands epilepsy//sylvian epilepsy//temporal-central focal epilepsy//temporal central focal epilepsy//temporal-central focal epilepsies//benign childhood epilepsy with centrotemporal spike//rolandic epilepsy//sylvan seizures	GRIN2A;SRPX2;GABRG2	GRIN2A;SRPX2;GABRG2	https://raresource.nih.gov/literature/disease/0010287	0010287	117100	1945	C0376532			glutamate ionotropic receptor NMDA type subunit 2A;sushi repeat containing protein X-linked 2;gamma-aminobutyric acid type A receptor subunit gamma2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rolandic epilepsy"	0	0	902
Neutral lipid storage myopathy	neutral lipid storage disease without ichthyosis//nlsdm//neutral lipid storage disease with myopathy//neutral lipid storage disease with myopathy without ichthyosis//neutral lipid storage disease with myopathy; nlsdm//neutral lipid storage myopathy//triglyceride deposit cardiomyovasculopathy	PNPLA2	PNPLA2	https://raresource.nih.gov/literature/disease/0010288	0010288	610717	98908	C1853136			patatin like phospholipase domain containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neutral lipid storage myopathy"	0	0	69
Linear nevus sebaceus syndrome	epidermal nevus syndrome, formerly//jadassohn nevus phakomatosis//jnp//linear sebaceous nevus syndrome//linear nevus sebaceous syndrome//nevus sebaceus of jadassohn//nevus sebaceous of jadassohn//nevus sebaceus syndrome//organoid nevus phakomatosis//organoid nevus syndrome//schimmelpenning-feuerstein-mims syndrome//schimmelpenning-feuerstein-mims syndrome; sfm//sebaceous nevus syndrome, linear//sfm//sfm syndrome//schimmelpenning feuerstein mims syndrome//schimmelpenning syndrome//sebaceous nevus syndrome linear//solomon syndrome//epidermal nevus syndrome//linear nevus sebaceus syndrome//linear sebaceous nevus//organoid nevus	KRAS;HRAS;NRAS	KRAS;HRAS;NRAS	https://raresource.nih.gov/literature/disease/0010291	0010291	163200	2612	C0265329			KRAS proto-oncogene, GTPase;HRas proto-oncogene, GTPase;NRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Linear nevus sebaceus syndrome"	0	0	519
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 9//autosomal recessive spinocerebellar ataxia type 9//cabc1-related coenzyme q10 deficiency//coq10d4//cerebellar ataxia, autosomal recessive, type 2//scar9//spinocerebellar ataxia, autosomal recessive 9//autosomal recessive ataxia due to ubiquinone deficiency//coenzyme q10 deficiency, primary, 4//coenzyme q10 deficiency, primary, 4; coq10d4//coenzyme q10 deficiency, primary, type 4	COQ8A	COQ8A	https://raresource.nih.gov/literature/disease/0010294	0010294	612016	139485	C2677589			coenzyme Q8A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia due to ubiquinone deficiency"	0	0	13
Syndactyly-telecanthus-anogenital and renal malformations syndrome	star//star (syndactyly, telecanthus, anogenital, renal malformation) syndrome//star syndrome//syndactyly with renal and anogenital malformations//syndactyly, telecanthus, anogenital and renal malformation syndrome//syndactyly, telecanthus, anogenital and renal malformations//toe syndactyly, telecanthus, and anogenital and renal malformations//toe syndactyly, telecanthus, anogenital and renal malformations//syndactyly-telecanthus-anogenital and renal malformations syndrome//toe syndactyly, telecanthus, and anogenital and renal malformations; star	CCNQ	CCNQ	https://raresource.nih.gov/literature/disease/0010295	0010295	300707	140952	C2678045			cyclin Q	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndactyly-telecanthus-anogenital and renal malformations syndrome"	0	0	177
15q13.3 microdeletion syndrome	15q13.3 microdeletion//15q13.3 microdeletion syndrome//chromosome 15q13.3 microdeletion syndrome//chromosome 15q13.3 deletion syndrome//del(15)(q13.3)//microdeletion 15q13.3 syndrome//monosomy 15q13.3	CHRNA7	CHRNA7	https://raresource.nih.gov/literature/disease/0010296	0010296	612001	199318	C2677613			cholinergic receptor nicotinic alpha 7 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=15q13.3 microdeletion syndrome"	0	0	9
Ghosal hematodiaphyseal dysplasia	diaphyseal dysplasia - anemia//diaphyseal dysplasia-anemia syndrome//ghdd//ghosal syndrome//ghosal hematodiaphyseal dysplasia; ghdd//ghosal hematodiaphyseal dysplasia syndrome//ghosal hematodiaphyseal dysplasia	TBXAS1	TBXAS1	https://raresource.nih.gov/literature/disease/0010297	0010297	231095	1802	C1856465			thromboxane A synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ghosal hematodiaphyseal dysplasia"	0	0	15
22q11.2 deletion syndrome	22q deletion syndrome(s)//22q11 deletion syndromes//22q11 deletion syndrome//22q11.2 deletion syndrome//22q11.2ds//22q11ds//autosomal dominant opitz g bbb syndrome//autosomal dominant opitz g-bbb syndrome//autosomal dominant opitz g/bbb syndrome//cafs//catch 22//catch22//cayler cardiofacial syndrome//chromosome 22q11 deletion syndrome//chromosome 22q11.2 deletion syndrome//conotruncal anomaly face syndrome//conotruncal anomaly face syndrome (ctaf)//dgs//dgs1//deletion syndrome, 22q11//deletion syndrome, 22q11.2//deletion syndromes, 22q11//di-george syndrome//digeorge anomaly//digeorge sequence//digeorge syndrome//digeorge syndrome chromosome region//digeorge syndrome type 1//digeorge's syndrome//familial third and fourth pharyngeal pouch syndrome//hypoplasia of thymus and parathyroid//microdeletion 22q11.2//monosomy 22q11//pharyngeal pouch syndrome//sedlackova syndrome//shprintzen vcf syndrome//shprintzen syndrome//sphrintzen//syndrome, 22q11 deletion//syndrome, digeorge//syndrome, sedlackova//syndrome, shprintzen//syndrome, vcf//syndrome, velo-cardio-facial//syndrome, velocardiofacial//syndromes, 22q11 deletion//takao vcf syndrome//takao syndrome//third and fourth pharyngeal pouch syndrome//thymic alymphoplasia//thymic aplasia or hypoplasia with immunodeficiency//thymic aplasia syndrome//vcf//vcf syndrome//vcf syndome//vcf-velocardiofacial syndrome//vcfs//velo cardio facial syndrome//velo-cardio-facial syndrome//velocardiofacial syndrome//deletion 22q11.2 syndrome//hypoplasia of thymus and parathyroids	GP1BB;RREB1;SEC24C;TBX1;ARVCF;JMJD1C;UFD1;COMT;HIRA	GP1BB;RREB1;SEC24C;TBX1;ARVCF;JMJD1C;UFD1;COMT;HIRA	https://raresource.nih.gov/literature/disease/0010299	0010299	188400	567	C3266101	D058165		glycoprotein Ib platelet subunit beta;ras responsive element binding protein 1;SEC24 homolog C, COPII coat complex component;T-box transcription factor 1;ARVCF delta catenin family member;jumonji domain containing 1C;ubiquitin recognition factor in ER associated degradation 1;catechol-O-methyltransferase;histone cell cycle regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=22q11.2 deletion syndrome"	0	0	4289
Autosomal recessive bestrophinopathy	burgess-black type//retinopathy	BEST1	BEST1	https://raresource.nih.gov/literature/disease/0010301	0010301	611809	139455				bestrophin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive bestrophinopathy"	0	0	15003
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//46,xx sex reversal with dysgenesis of kidneys adrenals and lungs//serkal//serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome//serkal syndrome//sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs//sex reversion - kidneys, adrenal and lung dysgenesis//sex reversion, kidney, adrenal and lung dysgenesis syndrome//sex reversion-kidneys//sex reversion-kidneys, adrenal and lung dysgenesis syndrome//adrenal and lung dysgenesis syndrome	WNT4	WNT4	https://raresource.nih.gov/literature/disease/0010302	0010302	611812	139466	C2678492			Wnt family member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SERKAL syndrome"	0	0	1
Nephrogenic syndrome of inappropriate antidiuresis	nsiad	AVPR2	AVPR2	https://raresource.nih.gov/literature/disease/0010306	0010306	300539	93606	C1845202			arginine vasopressin receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nephrogenic syndrome of inappropriate antidiuresis"	0	0	64
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	ikak4d//imd67//invasive pneumococcal disease, protection against//invasive pneumococcal disease, recurrent isolated//ipd//ipd1//irak-4 deficiency//irak4 deficiency//irak4d//interleukin receptor-associated kinase deficiency//invasive pneumococcal disease, recurrent isolated, 1//immunodeficiency 67//immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency//invasive pneumococcal disease, recurrent isolated, 1; ipd1//invasive pneumococcal disease, recurrent isolated, type 1	IRAK4	IRAK4	https://raresource.nih.gov/literature/disease/0010311	0010311	607676	70592	C1843256			interleukin 1 receptor associated kinase 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"	0	0	2714
Neurogenic scapuloperoneal syndrome, Kaeser type	kaeser syndrome//neurogenic scapuloperoneal syndrome//scapuloperoneal syndrome, neurogenic type, of kaeser//scpnk//stark-kaeser syndrome//scapuloperoneal muscular atrophy//scapuloperoneal syndrome, neurogenic, kaeser type//neurogenic scapuloperoneal syndrome, kaeser type//scapuloperoneal syndrome type kaeser//scapuloperoneal syndrome, neurogenic, kaeser type; scpnk	DES	DES	https://raresource.nih.gov/literature/disease/0010312	0010312	181400	85146	C1867005			desmin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurogenic scapuloperoneal syndrome, Kaeser type"	0	0	1360
MYH7-related late-onset scapuloperoneal muscular dystrophy	myh7-related late-onset spmd//myh7-related late-onset scapuloperoneal syndrome//myh7-related scapuloperoneal myopathy//scapuloperoneal muscular dystrophy//scapuloperoneal syndrome, myopathic type//spmd//spmm//scapuloperoneal myopathy, myh7-related//scapuloperoneal myopathy, myh7-related; spmm	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0010313	0010313	181430	437572				myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MYH7-related late-onset scapuloperoneal muscular dystrophy"	0	0	17
Scapuloperoneal spinal muscular atrophy	amyotrophy, neurogenic scapuloperoneal, new england type//neurogenic scapuloperoneal amyotrophy//neurogenic scapuloperoneal amyotrophy, new england type//new england type//spsma//scapuloperoneal form of spinal muscular atrophy//scapuloperoneal neuronopathy//scapuloperoneal spinal muscular atrophy//scapuloperoneal spinal muscular atrophy, autosomal dominant//scapuloperoneal spinal muscular atrophy; 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"	0	0	16
Congenital multicore myopathy with external ophthalmoplegia	minicore myopathy//multicore myopathy//multiminicore disease with external ophthalmoplegia//multiminicore myopathy multicore myopathy with external ophthalmoplegia//minicore disease//minicore myopathy with external ophthalmoplegia//multi-minicore disease//multicore disease//multicore myopathy with external ophthalmoplegia//multiminicore disease//multiminicore myopathy//congenital multicore myopathy with external ophthalmoplegia//minicore myopathy, antenatal onset, with arthrogryposis	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"	0	0	159
Megaconial 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//muscular dystrophy, congenital, with mitochondrial structural abnormalities//megaconial congénital muscular dystrophy//muscular dystrophy, congenital, megaconial type//megaconial congenital muscular dystrophy//megaconial type congenital muscular dystrophy//muscular dystrophy, congenital, megaconial type; mdcmc	CHKB	CHKB	https://raresource.nih.gov/literature/disease/0010317	0010317	602541	280671	C1865233			choline kinase beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Megaconial congenital muscular dystrophy"	0	0	26
Corneal dystrophy, lattice type iiia	cdl3a//lattice corneal dystrophy, type iiia//lattice corneal dystrophy type iiia//lattice corneal dystrophy//lattice corneal dystrophy type 3a//lattice corneal dystrophy type iii a//corneal dystrophy, lattice type 3a//corneal dystrophy, lattice type iiia//corneal dystrophy, lattice type iiia; cdl3a//lattice corneal dystrophy, type 3a//type iiia	TGFBI	TGFBI	https://raresource.nih.gov/literature/disease/0010320	0010320			C1837974			transforming growth factor beta induced	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corneal dystrophy, lattice type iiia"	0	0	260
3-methylglutaconic aciduria type 1	3 alpha methylglutaconic aciduria type i//3 methylglutaconic aciduria type 1//3 methylglutaconic aciduria type i//3 methylglutaconyl coa hydratase deficiency//3-@methylglutaconic aciduria, type i//3-methylglutaconic aciduria, type i//3-methylglutaconic aciduria, type i; mgca1//3-methylglutaconyl-coa hydratase deficiency//3-mg-coa-hydratase deficiency//3-mgca type i (3-mgca-1)//3-methylglutaconic aciduria, type 1//3-methylglutaconyl-coa hydratase deficiency with 3-methylglutaconic acid//3-methylglutaconic aciduria caused by mutation in auh//3-methylglutaconic aciduria type i//3-methylglutaconyl-coa hydratase deficiency (auh defect)//3mg coa hydratase deficiency//3mg-coa hydratase deficiency//auh 3-methylglutaconic aciduria//mga type 1//mga type i//mga, type i//mga1//mgca1//mga, type 1	AUH	AUH	https://raresource.nih.gov/literature/disease/0010321	0010321	250950	67046	C0342728			AU RNA binding methylglutaconyl-CoA hydratase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylglutaconic aciduria type 1"	0	0	35
2-methylbutyryl-CoA dehydrogenase deficiency	2-@methylbutyryl-coa dehydrogenase deficiency//2-mbcd deficiency//2-methylbutyryl glycinuria//2-methylbutyryl-coenzyme a dehydrogenase deficiency//2-methylbutyric aciduria//2-methylbutyrylglycinuria//acadsb//acyl-coa dehydrogenase, short/branched chain deficiency//deficiency of 2-methylbutyryl-coa dehydrogenase//deficiency of 2-methylbutyryl-coenzyme a dehydrogenase//developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency//sbcad deficiency//sbcadd//short/branched-chain acyl-coa dehydrogenase deficiency//short branched-chain acyl-coa dehydrogenase deficiency//short-branched-chain acyl-coa dehydrogenase deficiency//butyryl-coa dehydrogenase deficiency	ACADSB	ACADSB	https://raresource.nih.gov/literature/disease/0010322	0010322	610006	79157	C1864912			acyl-CoA dehydrogenase short/branched chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=2-methylbutyryl-CoA dehydrogenase deficiency"	0	0	23
L-Arginine:glycine amidinotransferase deficiency	agat deficiency//arginine:glycine amidinotransferase deficiency//arginine-glycine amidinotransferase deficiency//ccds3//cerebral creatine deficiency syndrome 3//creatine deficiency syndrome due to agat deficiency//creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency//gatm deficiency//l-arginine:glycine amidinotransferase deficiency//l-arginine:glycine aminidotransferase deficiency//cerebral creatine deficiency syndrome 3; ccds3//cerebral creatine deficiency syndrome type 3//disorder of glycine amidinotransferase activity//glycine amidinotransferase activity disease	GATM	GATM	https://raresource.nih.gov/literature/disease/0010323	0010323	612718	35704	C2675179			glycine amidinotransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=L-Arginine:glycine amidinotransferase deficiency"	0	0	37
Mild phenylketonuria	mild pku//variant pku//variant phenylketonuria//mpku//mild phenylketonuria	PAH	PAH	https://raresource.nih.gov/literature/disease/0010324	0010324		79253				phenylalanine hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mild phenylketonuria"	0	0	69
Progressive encephalopathy with leukodystrophy due to DECR deficiency	2,4-@dienoyl-coa reductase deficiency//2,4-dienoyl-coa reductase deficiency//2,4-alpha dienoyl-coa reductase deficiency//2,4-dienoyl-coa reductase deficiency; decrd//decr deficiency with hyperlysinemia//decrd//deficiency of 2,4-dienoyl-coa reductase//deficiency of 2,4-dienoyl-coenzyme a reductase//dienoyl-coa reductase deficiency//progressive encephalopathy with leukodystrophy due to decr deficiency	NADK2	NADK2	https://raresource.nih.gov/literature/disease/0010327	0010327	616034	431361	C1857252			NAD kinase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive encephalopathy with leukodystrophy due to DECR deficiency"	0	0	4
Tyrosinemia type 3	4 hydroxyphenol pyruvic acid oxidase deficiency disease//4 hydroxyphenylpyruvate dioxygenase deficiency disease//4-hydroxyphenylpyruvate dioxygenase deficiency//4-hydroxyphenylpyruvic acid oxidase deficiency//4-hydroxyphenol pyruvic acid oxidase deficiency disease//4-hydroxyphenylpyruvate hydroxylase deficiency//4-alpha hydroxyphenylpyruvate dioxygenase deficiency//4-alpha hydroxyphenylpyruvic acid oxidase deficiency//deficiencies, 4-hydroxyphenylpyruvate dioxygenase//deficiency disease, 4 hydroxyphenol pyruvic acid oxidase//deficiency disease, 4-hydroxyphenol pyruvic acid oxidase//deficiency, 4-hydroxyphenylpyruvate dioxygenase//dioxygenase deficiencies, 4-hydroxyphenylpyruvate//dioxygenase deficiency, 4-hydroxyphenylpyruvate//hereditary tyrosinemia, type iii//tyrsn3//type iii tyrosinemia//type iii tyrosinemias//tyrosinemia type iii//tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency//tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency//tyrosinemia due to hpd deficiency//tyrosinemias, type iii//tyrosinemia type 3//tyrosinemia, type 3//tyrosinemia, type iii//tyrosinemia, type iii; tyrsn3	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 3"	0	0	30
Sickle cell-beta-thalassemia disease syndrome	double heterozygous for hb s and beta thalassemia//hb s beta-thalassemia//hb s-beta thalassemia//hbs - beta-thalassemia//hbs-beta-thalassemia syndrome//hemoglobin s beta-thalassemia//hemoglobin s/beta thalassemia//hemoglobin sickle-beta thalassemia//s-beta thalassemia//sickle cell-beta thalassemia//sickle beta thalassemia//sickle cell - beta-thalassemia disease//sickle cell-beta-thalassemia//thalassemia with hemoglobin s disease//sickle cell-beta-thalassemia disease syndrome	HBB	HBB	https://raresource.nih.gov/literature/disease/0010333	0010333		251359	C0221019			hemoglobin subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sickle cell-beta-thalassemia disease syndrome"	0	0	191
Severe combined immunodeficiency due to complete RAG1/2 deficiency	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 immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive//autosomal recessive t cell-negative, b-cell negative, nk cell-positive scid//severe combined immunodeficiency due to complete rag1/2 deficiency//severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive	RAG1;RAG2	RAG1;RAG2	https://raresource.nih.gov/literature/disease/0010339	0010339	601457	331206	C1832322			recombination activating 1;recombination activating 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe combined immunodeficiency due to complete RAG1/2 deficiency"	0	0	None
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	mpph syndrome//megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus//megalencephaly, polymicrogyria, and hydrocephalus (mpph) syndrome//megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome//megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	PIK3R2;CCND2;AKT3	PIK3R2;CCND2;AKT3	https://raresource.nih.gov/literature/disease/0010341	0010341	603387	83473	C1863924			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"	0	0	21
Spinocerebellar ataxia type 6	ataxia 6, spinocerebellar//ataxia 6s, spinocerebellar//cacna1a autosomal dominant cerebellar ataxia type iii//sca6//spinocerebellar ataxia 6s//spinocerebellar ataxia-6//spinocerebellar ataxia 6//type 6 spinocerebellar ataxia//autosomal dominant cerebellar ataxia type iii caused by mutation in cacna1a//spinocerebellar ataxia 6; sca6//spinocerebellar ataxia type 6	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"	0	0	400
Familial platelet disorder with associated myeloid malignancy	asprin-like platelet disorder//etv6 thrombocytopenia//fpd/aml//fpd/aml syndrome//fpdaml//fpdmm//fps/aml//fps/aml syndrome//familial platelet disorder with propensity to acute myelogenous leukemia//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 platelet syndrome//familial platelet syndrome with predisposition to acute myelogenous leukemia//familial thrombocytopenia with propensity to acute myelogenous leukemia//hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1//hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome//platelet disorder, aspirin-like//runx1 fpd/aml//thc5//thrombocytopenia 5 with increased susceptibility to malignancy//thrombocytopenia, autosomal dominant, 5//thrombocytopenia, familial, with propensity to acute myelogenous leukemia//familial platelet disorder with associated myeloid malignancy//hereditary thrombocytopenia and hematologic cancer predisposition syndrome//platelet disorder, familial, with associated myeloid malignancy//platelet disorder, familial, with associated myeloid malignancy; fpdmm//thrombocytopenia 5//thrombocytopenia 5; thc5//thrombocytopenia caused by mutation in etv6//thrombocytopenia type 5	RUNX1;ANKRD26;ETV6	RUNX1;ANKRD26;ETV6	https://raresource.nih.gov/literature/disease/0010352	0010352	616216	71290	C1832388			RUNX family transcription factor 1;ankyrin repeat domain containing 26;ETS variant transcription factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial platelet disorder with associated myeloid malignancy"	0	0	36
Intellectual disability, Birk-Barel type	bibars//birk-barel mental retardation dysmorphism syndrome//birk-barel intellectual disability dysmorphism syndrome//birk barel intellectual disability dysmorphism syndrome//birk barel mental retardation dysmorphism syndrome//birk-barel syndrome//intellectual disability - hypotonia - facial dysmorphism//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//intellectual disability with hypotonia and facial dysmorphism//intellectual disability, birk-barel type	KCNK9	KCNK9	https://raresource.nih.gov/literature/disease/0010358	0010358	612292	166108				potassium two pore domain channel subfamily K member 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability, Birk-Barel type"	0	0	13
Brugada syndrome 3	brgda3//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			C2678478			calcium voltage-gated channel subunit alpha1 C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 3"	0	0	1
Brugada syndrome 4	brgda4//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			C2678477			calcium voltage-gated channel auxiliary subunit beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brugada syndrome 4"	0	0	None
Dopa-responsive dystonia due to sepiapterin reductase deficiency	7,8-dihydrobiopterin synthetase deficiency//autosomal recessive sepiapterin reductase-deficient drd//biopterin deficiency//drd due to srd//dyt-spr//dyt/park-spr//dopa-responsive dystonia due to sepiapterin reductase deficiency//sepiapterin reductase deficiency//spr deficiency//sr-deficient drd//srd//dystonia, dopa-responsive, due to sepiapterin reductase deficiency	SPR	SPR	https://raresource.nih.gov/literature/disease/0010365	0010365	612716	70594	C0268468			sepiapterin reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dopa-responsive dystonia due to sepiapterin reductase deficiency"	0	0	550
Toriello-Lacassie-Droste syndrome	aplasia cutis congenita with epibulbar dermoids//aplasia cutis congenita - epibulbar dermoids//aplasia cutis congenita with epibulbar dermoid syndrome//aplasia cutis congenita-epibulbar dermoids syndrome//oes//oculo-ectodermal syndrome//oculoectodermal syndrome//toriello lacassie droste syndrome//oculoectodermal syndrome; oes	KRAS	KRAS	https://raresource.nih.gov/literature/disease/0010366	0010366	600268	3339	C1838329			KRAS proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Toriello-Lacassie-Droste syndrome"	0	0	50
Trehalase deficiency	isolated trehalose intolerance//trehalose intolerance//alpha, alpha-trehalase deficiency//diarrhea-vomiting due to trehalase deficiency//trehalase deficiency	TREH	TREH	https://raresource.nih.gov/literature/disease/0010372	0010372	612119	103909	C0268187			trehalase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trehalase deficiency"	0	0	12
Small cell carcinoma of the ovary	ovarian small cell carcinoma//scco//small cell ovarian carcinoma//ovarian small cell nec//ovarian small cell cancer//ovarian small cell neuroendocrine carcinoma//ovary small cell carcinoma//small cell carcinoma of ovary//small cell carcinoma of the ovary	SMARCA4	SMARCA4	https://raresource.nih.gov/literature/disease/0010411	0010411		370396				SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Small cell carcinoma of the ovary"	0	0	210
Autosomal dominant polycystic kidney disease	adpkd//adpkd - autosomal dominant polycystic kidney disease//adult polycystic kidney disease//adult polycystic kidney disease type 1//adult polycystic kidney disease type 2//autosomal dominant polycystic kidney//autosomal dominant adult polycystic kidney disease//congenital biliary ectasias//kidney, polycystic, autosomal dominant//polycystic kidney and hepatic disease 1//polycystic kidney disease 2//polycystic kidney disease, adult//polycystic kidney disease, adult type 2//polycystic kidney disease, adult, type ii//polycystic kidney disease, autosomal dominant//polycystic kidney disease, type 2//polycystic kidney, autosomal dominant//polycystic kidney, type 1 autosomal dominant disease//polycystic kidney, type 2 autosomal dominant disease//polycystic kidney disease, adult type//polycystic kidney disease, adult type (disorder)//polycystic kidneys - adult type//adult type autosomal dominant polycystic kidney disease//autosomal dominant polycystic kidney disease	GANAB;BICC1;ALG9;DNAJB11;PKD1;PKD2;IFT140	GANAB;BICC1;ALG9;DNAJB11;PKD1;PKD2;IFT140	https://raresource.nih.gov/literature/disease/0010413	0010413	600666	730				glucosidase II alpha subunit;BicC family RNA binding protein 1;ALG9 alpha-1,2-mannosyltransferase;DnaJ heat shock protein family (Hsp40) member B11;polycystin 1, transient receptor potential channel interacting;polycystin 2, transient receptor potential cation channel;intraflagellar transport 140	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant polycystic kidney disease"	0	0	9043
Homozygous familial hypercholesterolemia	hofh	PCSK9;LDLRAP1;LDLR;ABCG8;APOB;ABCG5	PCSK9;LDLRAP1;LDLR;ABCG8;APOB;ABCG5	https://raresource.nih.gov/literature/disease/0010416	0010416	602247	391665	C0342881			proprotein convertase subtilisin/kexin type 9;low density lipoprotein receptor adaptor protein 1;low density lipoprotein receptor;ATP binding cassette subfamily G member 8;apolipoprotein B;ATP binding cassette subfamily G member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Homozygous familial hypercholesterolemia"	0	0	603
Symptomatic form of hemochromatosis type 1	c282y/c282y hemochromatosis//classic hemochromatosis//hemochromatosis//hemochromatosis, hereditary//hfe//hfe-associated hereditary hemochromatosis//hfe-related hemochromatosis//hfe1//hh//hemochromatosis classic//hemochromatosis type 1//symptomatic form of hfe-related hereditary hemochromatosis//symptomatic form of classic hemochromatosis//hemochromatosis, type 1//hemochromatosis, type 1; hfe1//hereditary hemochromatosis//symptomatic form of hemochromatosis type 1	HFE	HFE	https://raresource.nih.gov/literature/disease/0010417	0010417	235200	465508				homeostatic iron regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Symptomatic form of hemochromatosis type 1"	0	0	7798
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	carasil//maeda syndrome	HTRA1	HTRA1	https://raresource.nih.gov/literature/disease/0010424	0010424	600142	199354	C1838577			HtrA serine peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"	0	0	103
X-linked hypohidrotic ectodermal dysplasia	anhidrotic ectodermal dysplasia 1//anhidrotic ectodermal dysplasia, x linked//anhidrotic ectodermal dysplasia, x-linked//anhidrotic ectodermal dysplasia x-linked//anhydrotic ectodermal dysplasia, x linked//anhydrotic ectodermal dysplasia, x-linked//christ-siemens-touraine syndrome//cst - christ-siemens-touraine syndrome//cst syndrome//cst syndromes//christ siemens touraine syndrome//dysplasia 1, ectodermal//ectd1//ectodermal dysplasia 1//ectodermal dysplasia 1, hypohidrotic, x-linked//ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked//ectodermal dysplasia, anhidrotic, x-linked//ectodermal dysplasia, hypohidrotic, 1//ed1//eda//eda1//ectodermal dysplasia 1, anhidrotic//ectodermal dysplasia 1, anhydrotic//ectodermal dysplasia 1s//ectodermal dysplasia, hypohidrotic, x-linked//ectodermal dysplasia, hypohydridic, x-linked//hed1//hypohidrotic ectodermal dysplasia//hypohidrotic ectodermal dysplasia, x-linked (xlhed)//hypohidrotic x-linked ectodermal dysplasia//hypohidrotic ectodermal dysplasia x-linked//hypohidrotic ectodermal dysplasia syndrome//syndrome, cst//syndromes, cst//x linked hypohydridic ectodermal dysplasia//x-linked hypohydridic ectodermal dysplasia//x-linked anhidrotic ectodermal dysplasia//xhed//xlhed//ectodermal dysplasia 1, hypohidrotic, x-linked; xhed//hypohidrotic ectodermal dysplasia, x-linked	EDA2R;EDA	EDA2R;EDA	https://raresource.nih.gov/literature/disease/0010427	0010427	305100	181	C0162359	D053358		ectodysplasin A2 receptor;ectodysplasin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked hypohidrotic ectodermal dysplasia"	0	0	813
Autosomal dominant brachyolmia	bcym3//brachyolmia, autosomal dominant//brachyrachia//brachyolmia autosomal dominant//brachyolmia type 3//autosomal dominant brachyolmia//brachyolmia type 3; bcym3	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[]=Autosomal dominant brachyolmia"	0	0	10
Dravet syndrome	dee6//developmental and epileptic encephalopathy 6//drvt//ds//dravet syndromes//eiee6//epileptic encephalopathy, early infantile, 6//epilepsy, myoclonic, infantile, severe//epileptic encephalopathy, early infantile, 6 (dravet syndrome)//gabrg2-related dravet syndrome//infantile severe myoclonic epilepsy//myoclonic epilepsy, infantile, severe//myoclonic epilepsy, severe infantile//myoclonic epilepsy, severe, of infancy//scn9a-related dravet syndrome//sme//smei//severe infantile myoclonic epilepsy//severe myoclonic epilepsy of infancy//severe myoclonic epilepsy, infantile//severe myoclonic epilepsy in infancy//severe myoclonus epilepsy of infancy	SCN1A;SCN1B;SCN9A;PCDH19;SCN2A;GABRG2;GABRA1	SCN1A;SCN1B;SCN9A;PCDH19;SCN2A;GABRG2;GABRA1	https://raresource.nih.gov/literature/disease/0010430	0010430	615744	33069	C0751122			sodium voltage-gated channel alpha subunit 1;sodium voltage-gated channel beta subunit 1;sodium voltage-gated channel alpha subunit 9;protocadherin 19;sodium voltage-gated channel alpha subunit 2;gamma-aminobutyric acid type A receptor subunit gamma2;gamma-aminobutyric acid type A receptor subunit alpha1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dravet syndrome"	0	0	10017
Cardiac arrhythmia, ankyrin-b-related	ankyrin-b syndrome//cardiac arrhythmia ankyrin-b related//long qt syndrome 4//lqt4//cardiac arrhythmia, ankyrin-b-related	ANK2	ANK2	https://raresource.nih.gov/literature/disease/0010432	0010432			C1833154			ankyrin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac arrhythmia, ankyrin-b-related"	0	0	21
Long qt syndrome 5	kcne1 long qt syndrome//long qt syndrome 2/5, digenic//long qt syndrome 5, acquired, susceptibility to//lqt2/5, digenic//lqt5//long qt syndrome 5//long qt syndrome 5; lqt5//long qt syndrome caused by mutation in kcne1//long qt syndrome type 5	KCNE1	KCNE1	https://raresource.nih.gov/literature/disease/0010433	0010433			C1867904			potassium voltage-gated channel subfamily E regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 5"	0	0	12
Long qt syndrome 6	kcne2 long qt syndrome//long qt syndrome 3/6, digenic//long qt syndrome 6, acquired, susceptibility to//lqt3/6, digenic//lqt6//long qt syndrome 6//long qt syndrome 6; lqt6//long qt syndrome caused by mutation in kcne2//long qt syndrome type 6	KCNE2	KCNE2	https://raresource.nih.gov/literature/disease/0010434	0010434			C3276241			potassium voltage-gated channel subfamily E regulatory subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 6"	0	0	6
Long qt syndrome 9	cav3 long qt syndrome//long qt syndrome 2/9, digenic//long qt syndrome 9, acquired, susceptibility to//lqt2/9, digenic//lqt9//long qt syndrome 9//long qt syndrome 2-9//long qt syndrome 9; lqt9//long qt syndrome caused by mutation in cav3//long qt syndrome type 9	CAV3	CAV3	https://raresource.nih.gov/literature/disease/0010435	0010435			C2678485			caveolin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 9"	0	0	7
Long qt syndrome 10	atfb17//atrial fibrillation, familial, 17//lqt10//long qt syndrome 10//scn4b long qt syndrome//long qt syndrome 10; lqt10//long qt syndrome caused by mutation in scn4b//long qt syndrome type 10	SCN4B	SCN4B	https://raresource.nih.gov/literature/disease/0010436	0010436			C2678484			sodium voltage-gated channel beta subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 10"	0	0	83
Long qt syndrome 11	akap9 long qt syndrome//lqt11//long qt syndrome 11//long qt syndrome 11; lqt11//long qt syndrome caused by mutation in akap9//long qt syndrome type 11	AKAP9	AKAP9	https://raresource.nih.gov/literature/disease/0010437	0010437			C2678483			A-kinase anchoring protein 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Long qt syndrome 11"	0	0	1
Pediatric multiple sclerosis	ms pediatric//multiple sclerosis, pediatric//pediatric ms//pediatric multiple sclerosis	HLA-DRB1;HLA-DQB1	HLA-DRB1;HLA-DQB1	https://raresource.nih.gov/literature/disease/0010443	0010443		477738				major histocompatibility complex, class II, DR beta 1;major histocompatibility complex, class II, DQ beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pediatric multiple sclerosis"	0	0	85
Transaldolase deficiency	deficiency of dihydroxyacetonetransferase//deficiency of glycerone-transferase//deficiency of transaldolase//eyaid syndrome//taldo//taldo deficiency//taldod//transaldolase deficiency	TALDO1	TALDO1	https://raresource.nih.gov/literature/disease/0010445	0010445	606003	101028	C1291329			transaldolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transaldolase deficiency"	0	0	50
Perry syndrome	parkinsonism with alveolar hypoventilation and mental depression	DCTN1	DCTN1	https://raresource.nih.gov/literature/disease/0010453	0010453	168605	178509	C1868594			dynactin subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Perry syndrome"	0	0	65
Isolated permanent neonatal diabetes mellitus	abcc8-related permanent neonatal diabetes mellitus//diabetes mellitus, permanent, of infancy//ins-related permanent neonatal diabetes mellitus//isolated pndm//kcnj11-related permanent neonatal diabetes mellitus//monogenic diabetes of infancy//pdmi//pdx1-related permanent neonatal diabetes mellitus//pndm//pndm1//permanent diabetes mellitus of infancy//permanent neonatal diabetes mellitus//developmental delay, epilepsy, and neonatal diabetes//diabetes mellitus, permanent neonatal//diabetes mellitus, permanent neonatal, with neurologic features//diabetes mellitus, permanent neonatal; pndm	STAT3;PDX1;INS;ABCC8;GCK;KCNJ11	STAT3;PDX1;INS;ABCC8;GCK;KCNJ11	https://raresource.nih.gov/literature/disease/0010457	0010457	606176	99885	C1833104			signal transducer and activator of transcription 3;pancreatic and duodenal homeobox 1;insulin;ATP binding cassette subfamily C member 8;glucokinase;potassium inwardly rectifying channel subfamily J member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated permanent neonatal diabetes mellitus"	0	0	816
GCGR-related hyperglucagonemia	alpha-cell hyperplasia with glucagonemia//mvah//mahvash disease//nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor//nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	GCGR	GCGR	https://raresource.nih.gov/literature/disease/0010460	0010460	619290	438274				glucagon receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GCGR-related hyperglucagonemia"	0	0	400
Spinocerebellar ataxia type 17	cerebelloparenchymal disorder ii//cpd2//hdl4//hdl4 huntington disease-like 4//huntington disease-like 4//olivopontocerebellar atrophy v//opca5//sca 17//sca17//sca17 spinocerebellar ataxia 17//spinocerebellar ataxia type17//spinocerebellar ataxia 17//spinocerebellar ataxia 17; sca17//spinocerebellar ataxia type 17	TBP	TBP	https://raresource.nih.gov/literature/disease/0010469	0010469	607136	98759	C1846707			TATA-box binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 17"	0	0	127
Telethonin-related limb-girdle muscular dystrophy R7	autosomal recessive limb-girdle muscular dystrophy type 2g//lgmd due to telethonin deficiency//lgmd type 2g//lgmd2g//lgmdr7//limb-girdle muscular dystrophy due to telethonin deficiency//limb-girdle muscular dystrophy type 2g//limb-girdle muscular dystrophy, type 2g//muscular dystrophy, limb-girdle, type 2g//tcap autosomal recessive limb-girdle muscular dystrophy//telethonin-related lgmd r7//autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap//muscular dystrophy, limb-girdle, type 2g; lgmd2g	TCAP	TCAP	https://raresource.nih.gov/literature/disease/0010471	0010471	601954	34514	C1866008			titin-cap	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telethonin-related limb-girdle muscular dystrophy R7"	0	0	21
L-2-hydroxyglutaric aciduria	l-2(oh) glutaric aciduria//l-2-hga//l-2-hydroxyglutaric acidemia//l-2-hydroxy-glutaric aciduria//l-2-hydroxyglutaric aciduria; l2hga//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"	0	0	183
Spinocerebellar ataxia type 10	sca10//sca10 spinocerebellar ataxia 10//spinocerebellar ataxia type10//spinocerebellar ataxia 10//spinocerebellar ataxia 10; sca10//spinocerebellar ataxia type 10	ATXN10	ATXN10	https://raresource.nih.gov/literature/disease/0010474	0010474	603516	98761	C1963674			ataxin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 10"	0	0	99
Spinocerebellar ataxia type 11	sca 11 spinocerebellar ataxia 11//sca11//spinocerebellar ataxia type11//spinocerebellar ataxia 11//spinocerebellar ataxia 11; sca11//spinocerebellar ataxia type 11	TTBK2	TTBK2	https://raresource.nih.gov/literature/disease/0010475	0010475	604432	98767	C1858351			tau tubulin kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 11"	0	0	23
Spinocerebellar ataxia type 12	sca12//sca12 spinocerebellar ataxia 12//spinocerebellar ataxia type12//spinocerebellar ataxia 12//spinocerebellar ataxia 12; sca12//spinocerebellar ataxia type 12	PPP2R2B	PPP2R2B	https://raresource.nih.gov/literature/disease/0010476	0010476	604326	98762	C1858501			protein phosphatase 2 regulatory subunit Bbeta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 12"	0	0	59
Spinocerebellar ataxia type 15/16	sca15//sca15 spinocerebellar ataxia 15//sca15/16//sca16 (formerly)//sca16, formerly//scar16//spinocerebellar ataxia 16, formerly//spinocerebellar ataxia 15//spinocerebellar ataxia type15//spinocerebellar ataxia 16 (formerly)//spinocerebellar ataxia type 15//spinocerebellar ataxia 15; sca15//spinocerebellar ataxia 16//spinocerebellar ataxia type 15/16//spinocerebellar ataxia type 16	ITPR1	ITPR1	https://raresource.nih.gov/literature/disease/0010477	0010477	606658	98769				inositol 1,4,5-trisphosphate receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 15/16"	0	0	36
Spinocerebellar ataxia type 29	congenital nonprogressive spinocerebellar ataxia//sca29	ITPR1	ITPR1	https://raresource.nih.gov/literature/disease/0010480	0010480	117360	208513	C1861732			inositol 1,4,5-trisphosphate receptor type 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 29"	0	0	12
Infantile dystonia-parkinsonism	dat deficiency//dopamine transporter deficiency syndrome//dtds//ipd//infantile parkinsonism-dystonia//infantile dystonia parkinsonism//parkinsonism-dystonia, infantile//parkinsonism-dystonia, infantile; pkdys//pkdys//pkdys1//parkinsonism-dystonia infantile//parkinsonism-dystonia, infantile, 1; pkdys1//slc6a3-related dopamine transporter deficiency syndrome	SLC6A3	SLC6A3	https://raresource.nih.gov/literature/disease/0010484	0010484	613135	238455	C2751067			solute carrier family 6 member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile dystonia-parkinsonism"	0	0	2697
Craniopharyngioma	adamantinoma//adamantinomatous tumor//adamantinous craniopharyngioma//adamantinous craniopharyngiomas//adult craniopharyngioma//adult craniopharyngiomas//child craniopharyngioma//child craniopharyngiomas//craniopharyngeal duct tumor//craniopharyngioma, adamantinous//craniopharyngioma, adult//craniopharyngioma, child//craniopharyngioma, papillary//craniopharyngiomas//craniopharyngiomas, adamantinous//craniopharyngiomas, adult//craniopharyngiomas, child//craniopharyngiomas, papillary//dysodontogenic epithelial tumor//neoplasm, rathke cleft//neoplasm, rathke's cleft//neoplasm, rathkes cleft//papillary craniopharyngioma//papillary craniopharyngiomas//rathke cleft neoplasm//rathke pouch tumor//rathke pouch neoplasm//rathke's cleft neoplasm//rathke's pouch tumor//rathke's pouch neoplasm//rathkes cleft neoplasm//rathkes pouch tumor//tumor, rathke pouch//tumor, rathke's pouch//craniopharyngioma//craniopharyngioma (who grade i)//craniopharyngioma (morphologic abnormality)//craniopharyngioma, benign//cystoma//neoplasm of rathke's pouch//tumor 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"	0	0	4934
Craniorachischisis	craniorachischises//craniorachischisis (disease)//cranial rachischisis//craniorachischisis	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"	0	0	133
Bartter syndrome type 4	bsnd//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 hearing loss//infantile bartter syndrome with sensorineural deafness	CLCNKB;CLCNKA;BSND	CLCNKB;CLCNKA;BSND	https://raresource.nih.gov/literature/disease/0010508	0010508	613090	89938				chloride voltage-gated channel Kb;chloride voltage-gated channel Ka;barttin CLCNK type accessory subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bartter syndrome type 4"	0	0	27
Acquired partial lipodystrophy	apl//apld//apld, susceptibility to//barraquer syndrome//barraquer-simons syndrome//barraquer-simons disease//hollander-simons syndrome//lipodystrophy, partial, acquired, susceptibility to//lipodystrophy, partial, progressive//lipodystophy partial progressive//lipodystrophic diabetes with partial lipoatrophy//lipodystrophy cephalothoracic type//lipodystrophy partial acquired//lipodystrophy, cephalothoracic type//lipodystrophy, partial, acquired//lipodystrophy, partial//macrodystrophia lipomatosa progressiva//partial lipoatrophy//progressive cephalothoracic lipodystrophy//progressive lipodystrophy//progressive partial lipodystrophy//acquired partial lipodystrophy//lipodystrophy, partial, acquired, susceptibility to; apld//partial acquired lipodystrophy//susceptibility to partial acquired lipodystrophy	LMNB2	LMNB2	https://raresource.nih.gov/literature/disease/0010509	0010509	608709	79087	C0220989			lamin B2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acquired partial lipodystrophy"	0	0	5282
Juvenile Huntington disease	huntington disease, juvenile//huntington disease, juvenile-onset//huntington disease, juvenile onset//jhd//juvenile huntington chorea//juvenile onset huntington disease//juvenile onset hd//juvenile onset huntington's disease//juvenile-onset huntington disease//juvenile huntington disease	HTT	HTT	https://raresource.nih.gov/literature/disease/0010510	0010510	143100	248111	C0751208			huntingtin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile Huntington disease"	0	0	64
Sorsby fundus dystrophy	fundus dystrophy, pseudoinflammatory, of sorsby//fundus dystrophy//macular dystrophy, hemorrhagic//sfd//sorsby fundus dystrophy; sfd//sorsby pseudoinflammatory fundus dystrophy//sorsby's fundus dystrophy//sorsby's pseudoinflammatory macular dystrophy//hemorrhagic//hemorrhagic macular dystrophy//macular dystrophy//of sorsby//pseudoinflammatory//pseudoinflammatory fundus dystrophy of sorsby	TIMP3	TIMP3	https://raresource.nih.gov/literature/disease/0010511	0010511		59181	C1850938			TIMP metallopeptidase inhibitor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sorsby fundus dystrophy"	0	0	8682
Spondyloepimetaphyseal dysplasia, aggrecan type	semd//semd, aggrecan type//semdag//spondyloepimetaphyseal dysplasia aggrecan type//spondyloepimetaphyseal dysplasia, aggrecan type//aggrecan type//spondyloepimetaphyseal dysplasia, aggrecan type; semdag	ACAN	ACAN	https://raresource.nih.gov/literature/disease/0010513	0010513	612813	171866	C2748544			aggrecan	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, aggrecan type"	0	0	90
EAST syndrome	east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome//east syndrome//epilepsy, ataxia, sensorineural deafness, and tubulopathy//epilepsy, ataxia, sensorineural deafness and tubulopathy//epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome//epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome//sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome//sesame syndrome//sesames//seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome//seizures - sensorineural deafness - ataxia - intellectual disability - 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, mental retardation and electrolyte imbalance//seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome//seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome//seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance//seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance//seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance; sesames//seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; sesames	KCNJ10	KCNJ10	https://raresource.nih.gov/literature/disease/0010514	0010514	612780	199343	C2748572			potassium inwardly rectifying channel subfamily J member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=EAST syndrome"	0	0	32
Sterile multifocal osteomyelitis with periostitis and pustulosis	autoinflammatory disease due to interleukin-1 receptor antagonist deficiency//dira//deficiency of interleukin 1 receptor antagonist//deficiency of interleukin(il)-1 receptor antagonist//deficiency of interleukin-1 receptor antagonist//deficiency of interleukin-1 receptor antagonist (dira)//interleukin 1 receptor antagonist deficiency//interleukin-1 receptor antagonist deficiency//ompp//ompp - sterile osteomyelitis, multifocal with periostitis and pustulosis//osteomyelitis, sterile multifocal, with periostitis and pustulosis//deficiency of the interleukin-1 receptor antagonist//osteomyelitis, sterile multifocal, with periostitis and pustulosis; ompp//sterile multifocal osteomyelitis with periostitis and pustulosis	IL1RN	IL1RN	https://raresource.nih.gov/literature/disease/0010516	0010516	612852	210115	C2748507			interleukin 1 receptor antagonist	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sterile multifocal osteomyelitis with periostitis and pustulosis"	0	0	405
Orofaciodigital syndrome type 3	brachydactyly of the hands and feet with duplication of the first toes//brachydactyly with major proximal phalangeal shortening//ofd iii - orofacial-digital syndrome iii//ofd syndrome 3//ofd3//ofds 3//ofds iii//oral-facial-digital syndrome, type iii//oral facial digital syndrome 3//oral facial digital syndrome type 3//oral-facial-digital syndrome 3//oral-facial-digital syndrome type 3//orofacial-digital syndrome iii//orofaciodigital syndrome 3//orofaciodigital syndrome iii//sugarman syndrome//oral-facial-digital syndrome, type 3//orofaciodigital syndrome iii; ofd3//orofaciodigital syndrome type 3//orofaciodigital syndrome type iii	TMEM231	TMEM231	https://raresource.nih.gov/literature/disease/0010518	0010518	258850	2752	C0406726			transmembrane protein 231	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 3"	0	0	485
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	congenital cataract - progressive muscular hypotonia - deafness - developmental delay//congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome//mitochondrial complex deficiency, combined//mpmcd//myopathy with cataract and combined respiratory chain deficiency//myopathy, mitochondrial progressive, with congenital cataract and developmental delay//myopathy with cataract and combined respiratory-chain deficiency//myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay//congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GFER	GFER	https://raresource.nih.gov/literature/disease/0010522	0010522	613076	330054	C2751320			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"	0	0	257
Combined immunodeficiency due to STIM1 deficiency	cid due to stim1 deficiency//imd10//immune dysfunction with t-cell inactivation due to calcium entry defect 2//immunodeficiency 10//stim1 deficiency//combined immunodeficiency due to stim1 deficiency//immunodeficiency 10; imd10//immunodeficiency type 10	STIM1	STIM1	https://raresource.nih.gov/literature/disease/0010523	0010523	612783	317430				stromal interaction molecule 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to STIM1 deficiency"	0	0	25
Combined immunodeficiency due to ORAI1 deficiency	cid due to orai1 deficiency//imd9//immune dysfunction with t-cell inactivation due to calcium entry defect 1//immunodeficiency 9//combined immunodeficiency due to orai1 deficiency//immunodeficiency 9; imd9//immunodeficiency type 9	ORAI1	ORAI1	https://raresource.nih.gov/literature/disease/0010524	0010524	612782	317428				ORAI calcium release-activated calcium modulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to ORAI1 deficiency"	0	0	None
15q11.2 microdeletion syndrome	15q11.2 bp1-bp2 microdeletion syndrome//15q11.2 microdeletion//chromosome 15q11.2 deletion//chromosome 15q11.2 microdeletion//del(15)(q11.2)//microdeletion 15q11.2//monosomy 15q11.2//chromosome 15q11.2 deletion syndrome	NIPA2;TUBG1;NIPA1	NIPA2;TUBG1;NIPA1	https://raresource.nih.gov/literature/disease/0010525	0010525	615656	261183	C3180937			NIPA magnesium transporter 2;tubulin gamma 1;NIPA magnesium transporter 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=15q11.2 microdeletion syndrome"	0	0	1
X-linked dystonia-parkinsonism	dystonia-parkinsonism, x-linked//dyt-taf1//dyt3//dystonia 3//dystonia 3, torsion, x-linked//lubag//lubag syndrome//torsion dystonia-parkinsonism, filipino type//torsion dystonia parkinsonism filipino type//x-linked dystonia-parkinsonism//x-linked dystonia-parkinsonism syndrome//x-linked torsion dystonia-parkinsonism syndrome//x-linked dystonia parkinsonism//x-linked dystonia-parkinsonism/lubag//x-linked torsion dystonia parkinsonism syndrome//xdp//xdp - x-linked dystonia parkinsonism//dystonia 3, torsion, x-linked; dyt3	TAF1	TAF1	https://raresource.nih.gov/literature/disease/0010533	0010533	314250	53351	C1839130			TATA-box binding protein associated factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked dystonia-parkinsonism"	0	0	173
Autosomal recessive spastic paraplegia type 35	spg35	FA2H	FA2H	https://raresource.nih.gov/literature/disease/0010538	0010538	612319	171629				fatty acid 2-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic paraplegia type 35"	0	0	12
Dystonia 16	dyt-prkra//dyt16//dystonia-16//early-onset dystonia parkinsonism//prkra dystonic disorder//young-onset dystonia-(parkinsonism)//dystonia 16//dystonia 16; dyt16//dystonia type 16//dystonic disorder caused by mutation in prkra	PRKRA	PRKRA	https://raresource.nih.gov/literature/disease/0010539	0010539	612067	210571	C2677567			protein activator of interferon induced protein kinase EIF2AK2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dystonia 16"	0	0	7
Paroxysmal exertion-induced dyskinesia	dystonia 18//dyt-slc2a1//dyt18//glut1 deficiency syndrome 2//glut1 deficiency syndrome 2, childhood onset//glut1 deficiency syndrome 2; glut1ds2//glut1 deficiency syndrome type 2//glut1ds2//paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia//paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia//ped//ped with or without epilepsy and/or hemolytic anemia//paroxysmal exercise-induced dystonia//paroxysmal exertion-induced dyskinesia//paroxysmal dystonia, exercise-induced//pxmd-slc2a1//childhood onset glut1 deficiency syndrome 2//childhood onset glut1 deficiency syndrome type 2	SLC2A1;PRRT2	SLC2A1;PRRT2	https://raresource.nih.gov/literature/disease/0010541	0010541	612126	98811	C1842534			solute carrier family 2 member 1;proline rich transmembrane protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal exertion-induced dyskinesia"	0	0	1137
Paragangliomas 2	2//glomus tumors, familial, 2//glomus tumors//pgl2//sdhaf2 paraganglioma//sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)//familial//paraganglioma caused by mutation in sdhaf2//paragangliomas 2//paragangliomas 2; pgl2//paragangliomas type 2	SDHAF2	SDHAF2	https://raresource.nih.gov/literature/disease/0010544	0010544			C1866552			succinate dehydrogenase complex assembly factor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paragangliomas 2"	0	0	904
Paragangliomas 3	3//glomus tumors, familial, 3//glomus tumors//pgl3//sdhc paraganglioma//sdhc-related hereditary paraganglioma-pheochromocytoma syndrome//sdhc-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)//familial//paraganglioma caused by mutation in sdhc//paragangliomas 3//paragangliomas 3; pgl3//paragangliomas type 3	SDHC	SDHC	https://raresource.nih.gov/literature/disease/0010545	0010545			C1854336			succinate dehydrogenase complex subunit C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paragangliomas 3"	0	0	3671
Paragangliomas 4	carotid body tumors and multiple extraadrenal pheochromocytomas//paraganglioma, familial malignant//paragangliomas, hereditary extraadrenal//pgl4//pheochromocytoma, extraadrenal, and cervical paraganglioma//pheochromocytoma, familial extraadrenal//pheochromocytoma, extraadrenal and cervical paraganglioma//sdhb paraganglioma//sdhb-related hereditary paraganglioma-pheochromocytoma syndrome//sdhb-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 4)//and cervical paraganglioma//extraadrenal//familial extraadrenal//familial malignant//hereditary extraadrenal//paraganglioma//paraganglioma caused by mutation in sdhb//paragangliomas//paragangliomas 4//paragangliomas 4; pgl4//paragangliomas type 4//pheochromocytoma	SDHB	SDHB	https://raresource.nih.gov/literature/disease/0010546	0010546			C1861848			succinate dehydrogenase complex iron sulfur subunit B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paragangliomas 4"	0	0	18693
22q11.2 duplication syndrome	22q11.2 duplication//22q11.2 microduplication syndrome//chromosome 22q11.2 microduplication syndrome//chromosome 22q11.2 duplication syndrome//dup(22)(q11)//duplication 22q11.2//trisomy 22q11.2	TBX1	TBX1	https://raresource.nih.gov/literature/disease/0010557	0010557	608363	1727	C2675369			T-box transcription factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=22q11.2 duplication syndrome"	0	0	34
AA amyloidosis	aa amyloidosis//amyloid a amyloidosis//amyloidosis aa//hemodialysis-associated amyloidosis//inflammatory amyloidosis//reactive amyloidosis//secondary amyloidosis	SAA1	SAA1	https://raresource.nih.gov/literature/disease/0010560	0010560		85445	C0221014			serum amyloid A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=AA amyloidosis"	0	0	615
Christianson syndrome	angelman-like syndrome, x-linked//angelman-like syndrome x-linked//christianson syndrome//intellectual developmental disorder, x-linked, syndromic, christianson type//intellectual deficit, x-linked, south african type//intellectual disability microcephaly epilepsy and ataxia syndrome//intellectual disability x-linked syndromic christianson type//mental retardation, microcephaly, epilepsy, and ataxia syndrome//mrxs christianson//mrxsch//mental retardation microcephaly epilepsy and ataxia syndrome//slc9a6-related syndromic mental retardation//x-linked angelman-like syndrome//x-linked intellectual deficit, south african type//x-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy//x-linked intellectual disability, south african type//x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome//x-linked mental retardation syndrome, christianson type//x-linked mental retardation, syndromic, christianson type//intellectual disability, x-linked syndromic, christianson type//intellectual disability, x-linked, syndromic, christianson type//intellectual disability, x-linked, syndromic, christianson type; mrxsch//intellectual disability, microcephaly, epilepsy, and ataxia syndrome//mental retardation, x-linked syndromic, christianson type//mental retardation, x-linked, syndromic, christianson type//mental retardation, x-linked, syndromic, christianson type; mrxsch	SLC9A6	SLC9A6	https://raresource.nih.gov/literature/disease/0010572	0010572	300243	85278	C2678194	C537450		solute carrier family 9 member A6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Christianson syndrome"	0	0	55
Åland Islands eye disease	aied//aland island eye disease; aied//aland island eye disease//forsius-eriksson type ocular albinism//forsius eriksson type ocular albinism//forsius-eriksson syndrome	CACNA1F	CACNA1F	https://raresource.nih.gov/literature/disease/0010574	0010574	300600	178333	C0268505			calcium voltage-gated channel subunit alpha1 F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Åland Islands eye disease"	0	0	117
Hyper-IgM syndrome type 2	aicda hyper-igm syndrome//aid deficiency//activation-induced cytidine deaminase deficiency//higm2//hyper-igm syndrome 2//hyper igm syndrome 2//immunodeficiency with hyper igm type 2//hyper-igm syndrome caused by mutation in aicda//hyper-igm syndrome type 2//immunodeficiency with hyper-igm type 2//immunodeficiency with hyper-igm, type 2//immunodeficiency with hyper-igm, type 2; higm2	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"	0	0	42
Hyper-IgM syndrome type 3	cd40 deficiency//cd40 hyper-igm syndrome//higm3//hyper-igm syndrome 3//hyper igm syndrome 3//hyper-igm syndrome due to cd40 deficiency//immunodeficiency with hyper igm type 3//hyper-igm syndrome caused by mutation in cd40//hyper-igm syndrome type 3//immunodeficiency with hyper-igm type 3//immunodeficiency with hyper-igm, type 3//immunodeficiency with hyper-igm, type 3; higm3//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"	0	0	37
Hyper-IgM syndrome type 5	higm5//hyper-igm syndrome 5//hyper igm syndrome 5//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//hyper-igm syndrome caused by mutation in ung//hyper-igm syndrome type 5//immunodeficiency with hyper-igm, type 5//immunodeficiency with hyper-igm, type 5; higm5	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"	0	0	None
Neonatal ichthyosis-sclerosing cholangitis syndrome	ichthyosis-sclerosing cholangitis syndrome//ihsc//ilvasc//ichthyosis, hypotrichosis, sclerosing cholangitis syndrome//ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis//ichthyosis-hypotrichosis-sclerosing cholangitis syndrome//neonatal ichthyosis-sclerosing cholangitis syndrome//nisch (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome//nisch syndrome//neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome//ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ilvasc	CLDN1	CLDN1	https://raresource.nih.gov/literature/disease/0010583	0010583	607626	59303	C1843355			claudin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neonatal ichthyosis-sclerosing cholangitis syndrome"	0	0	18
Chronic neutrophilic leukemia	cnl//chronic neutrophilic leukemia//chronic neutrophilic leukemias//leukemia, chronic neutrophilic//leukemia, neutrophilic, chronic//leukemias, chronic neutrophilic//neutrophilic leukemia, chronic//neutrophilic leukemias, chronic//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"	0	0	5545
Loeys-dietz syndrome 2	aat3//aortic aneurysm, familial thoracic 3//aortic aneurysm//lds2//loeys-dietz syndrome, type 2b//loeys-dietz syndrome 2//loeys-dietz syndrome 2; lds2//loeys-dietz syndrome caused by mutation in tgfbr2//loeys-dietz syndrome type 2//loeys-dietz syndrome type ii//marfan syndrome, type ii, formerly//marfan syndrome type ii//marfan syndrome, type ii//tgfbr2 loeys-dietz syndrome//familial thoracic 3//familial throacic aortic aneurysm 3//formerly//marfan syndrome//type ii	TGFBR2	TGFBR2	https://raresource.nih.gov/literature/disease/0010586	0010586			C2674574			transforming growth factor beta receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-dietz syndrome 2"	0	0	49
Adult-onset autosomal dominant leukodystrophy	adld//adult-onset autosomal dominant demyelinating leukodystrophy//autosomal dominant adult-onset demyelinating leukodystrophy//autosomal dominant leukodystrophy with autonomic disease//leukodystrophy, adult-onset, autosomal dominant//leukodystrophy, demyelinating, adult-onset, autosomal dominant//multiple sclerosis-like disorder//pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly//pelizaeus-merzbacher disease, autosomal dominant or late-onset type//adult-onset autosomal dominant leukodystrophy//autosomal-dominant or late-onset type pelizaeus-merzbacher disease//leukodystrophy, demyelinating, adult-onset, autosomal dominant; adld	LMNB1	LMNB1	https://raresource.nih.gov/literature/disease/0010587	0010587	169500	99027	C1868512			lamin B1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset autosomal dominant leukodystrophy"	0	0	75
Loeys-dietz syndrome 4	aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations//aneurysm//lds4//loeys-dietz syndrome 4//loeys-dietz syndrome 4; lds4//loeys-dietz syndrome caused by mutation in tgfb2//loeys-dietz syndrome type 4//tgfb2 loeys-dietz syndrome//tgfb2-related loeys-dietz syndrome//aortic and cerebral//with arterial tortuosity and skeletal manifestations	TGFB2	TGFB2	https://raresource.nih.gov/literature/disease/0010588	0010588			C3553762			transforming growth factor beta 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-dietz syndrome 4"	0	0	66
Mesoaxial synostotic syndactyly with phalangeal reduction	mssd//malik-percin type//mesoaxial synostotic syndactyly with phalangeal reduction syndrome//syndactyly, malik-percin type//syndactyly, type ix//syndactyly//syndactyly malik percin type//syndactyly malik-percin type//syndactyly mesoaxial synostotic with phalangeal reduction//syndactyly type 9//mesoaxial synostotic syndactyly with phalangeal reduction//syndactyly, mesoaxial synostotic, with phalangeal reduction//syndactyly, mesoaxial synostotic, with phalangeal reduction; mssd//syndactyly, type 9	BHLHA9	BHLHA9	https://raresource.nih.gov/literature/disease/0010590	0010590	609432	157801	C1836206			basic helix-loop-helix family member a9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mesoaxial synostotic syndactyly with phalangeal reduction"	0	0	1498
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	acute infantile liver failure//acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins//lfit//liver failure, infantile, transient//liver failure acute infantile//trmu infantile liver failure//transient infantile liver failure//acute infantile liver failure due to synthesis defect of mtdna-encoded proteins//infantile liver failure caused by mutation in trmu//liver failure, infantile, transient; lfit	TRMU	TRMU	https://raresource.nih.gov/literature/disease/0010593	0010593	613070	217371				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"	0	0	4
Neurodegenerative syndrome due to cerebral folate transport deficiency	cerebral folate deficiency//cerebral folate deficiency syndrome//cerebral folate transport deficiency//ncftd//neurodegeneration due to cerebral folate transport deficiency//cerebral folate receptor alpha deficiency//neurodegenerative syndrome due to cerebral folate transport deficiency	FOLR1	FOLR1	https://raresource.nih.gov/literature/disease/0010594	0010594	613068	217382	C2751584			folate receptor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegenerative syndrome due to cerebral folate transport deficiency"	0	0	120
BNAR syndrome	bnar//bifid nose with or without anorectal and renal anomalies//bifid nose with or without anorectal and renal anomalies; bnar	FREM1	FREM1	https://raresource.nih.gov/literature/disease/0010595	0010595	608980	217266	C2750433			FRAS1 related extracellular matrix 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BNAR syndrome"	0	0	5
Complete androgen insensitivity syndrome	cais//complete androgen resistance syndrome	AR	AR	https://raresource.nih.gov/literature/disease/0010597	0010597	300274	99429				androgen receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complete androgen insensitivity syndrome"	0	0	408
Pituitary hormone deficiency, combined 1		POU1F1	POU1F1	https://raresource.nih.gov/literature/disease/0010601	0010601	613038					POU class 1 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary hormone deficiency, combined 1"	0	0	None
Combined pituitary hormone deficiencies, genetic forms	familial congenital hypopituitarism//multiple pituitary hormone deficiencies//genetic forms	HESX1;FOXA2;OTX2;POU1F1;PROP1;LHX4;GLI2	HESX1;FOXA2;OTX2;POU1F1;PROP1;LHX4;GLI2	https://raresource.nih.gov/literature/disease/0010602	0010602	182230	95494				HESX homeobox 1;forkhead box A2;orthodenticle homeobox 2;POU class 1 homeobox 1;PROP paired-like homeobox 1;LIM homeobox 4;GLI family zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined pituitary hormone deficiencies, genetic forms"	0	0	110
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	cphd3//deafness, sensorineural, with pituitary dwarfism//deafness, sensorineural with pituitary dwarfism//lhx3-related combined pituitary hormone deficiency//non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome//pituitary hormone deficiency, combined, with rigid cervical spine//pituitary hormone deficiency, combined, 3//pituitary hormone deficiency, combined 3//pituitary hormone deficiency, combined with rigid cervical spine//sensorineural deafness with pituitary dwarfism//wbp syndrome//winkelman bethge pfeiffer syndrome//winkelmann-bethge-pfeiffer syndrome//non-acquired combined pituitary hormone deficiency with spine abnormalities//non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome//pituitary hormone deficiency, combined, 3; cphd3//pituitary hormone deficiency, combined, type 3	LHX3	LHX3	https://raresource.nih.gov/literature/disease/0010603	0010603	221750	231720				LIM homeobox 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"	0	0	2
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 4//pituitary hormone deficiency, combined with or without cerebellar defects//short stature, pituitary and cerebellar defects, and small sella turcica//short stature, pituitary and cerebellar defects and small sella turcica//pituitary hormone deficiency, combined, 4//pituitary hormone deficiency, combined, 4; cphd4//pituitary hormone deficiency, combined, type 4//short stature-pituitary and cerebellar defects-small sella turcica syndrome	LHX4	LHX4	https://raresource.nih.gov/literature/disease/0010604	0010604	262700	85442				LIM homeobox 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-pituitary and cerebellar defects-small sella turcica syndrome"	0	0	None
Acrocapitofemoral dysplasia	acfd//acrocapitofemoral dysplasia//acrocapitofemoral dysplasia; acfd	IHH	IHH	https://raresource.nih.gov/literature/disease/0010605	0010605	607778	63446	C1843096			Indian hedgehog signaling molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acrocapitofemoral dysplasia"	0	0	5
Atelosteogenesis type III	ao3//aoiii//atelosteogenesis type iii//atelosteogenesis type 3//atelosteogenesis, type 3//atelosteogenesis, type iii//atelosteogenesis, type iii; ao3	FLNB	FLNB	https://raresource.nih.gov/literature/disease/0010608	0010608	108721	56305	C3668942			filamin B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atelosteogenesis type III"	0	0	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//igf1res//insulin-like growth factor i, resistance to, due to increased binding protein//insulin growth factor i resistance//insulin-like growth factor i resistance//insulin-like growth factor i, resistance to//insulin-like growth factor 1 resistance to//resistance to igf-1//somatomedin, end-organ insensitivity to//somatomedin-c, resistance to//somatomedin c resistance//somatomedin c, resistance to//somatomedin end-organ insensitivity to//somatomedin-c resistance to//growth delay due to insulin-like growth factor i resistance//insulin-like growth factor i, resistance to; igf1res	IGF1R	IGF1R	https://raresource.nih.gov/literature/disease/0010609	0010609	270450	73273	C1849157			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"	0	0	11
Spondyloepimetaphyseal dysplasia, matrilin-3 type	matn3-related//semd//semd matn3-related//semd, matn3-related//semd, matrilin-3 type//semdbcd//spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type//spondyloepimetaphyseal dysplasia, matrilin-3 related//spondyloepimetaphyseal dysplasia matrilin-3 related//spondyloepimetaphyseal dysplasia matrilin-3 type//spondyloepimetaphyseal dysplasia, matn3-related//matrilin-3 type//spondyloepimetaphyseal dysplasia, matrilin-3 type	MATN3	MATN3	https://raresource.nih.gov/literature/disease/0010611	0010611	608728	156728	C1837481			matrilin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia, matrilin-3 type"	0	0	90
Adrenomyeloneuropathy	amn//adrenomyeloneuropathy	ABCD1	ABCD1	https://raresource.nih.gov/literature/disease/0010614	0010614	300100	139399	C1527231			ATP binding cassette subfamily D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adrenomyeloneuropathy"	0	0	701
Telangiectasia, hereditary hemorrhagic, type 4	hht4//hereditary hemorrhagic telangiectasia type 4//telangiectasia, hereditary hemorrhagic, type 4//telangiectasia, hereditary hemorrhagic, type 4; hht4	HHT4	HHT4	https://raresource.nih.gov/literature/disease/0010615	0010615		774	C1857688			Telangiectasia, hereditary hemorrhagic, type 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Telangiectasia, hereditary hemorrhagic, type 4"	0	0	None
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	smed type ii//smed short limb-hand type//smed type 2//smed, short limb-abnormal calcification type//smed, short limb-hand type//smed, type ii//smed-sl//smed-sl/ac//spondylometaepiphyseal dysplasia, short limb-abnormal calcification type//smed short limb-abnormal calcification type//smed, type 2//spondyloepimetaphyseal dysplasia - short limb - abnormal calcification//spondylometaepiphyseal dysplasia short limb-abnormal calcification type//spondylometaepiphyseal dysplasia short limb-hand type//spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome//spondylometaepiphyseal dysplasia, short limb-hand type	DDR2	DDR2	https://raresource.nih.gov/literature/disease/0010616	0010616	271665	93358	C1849011			discoidin domain receptor tyrosine kinase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	0	0	157
Spondyloepimetaphyseal dysplasia, Missouri type	mandp1//metaphyseal anadysplasia 1//missouri type//missouri type of spondyloepimetaphyseal dysplasia//semd//semd missouri type//semd type 2//semd, missouri type//semdm//spondyloepimetaphyseal dysplasia missouri type//spondyloepimetaphyseal dysplasia type 2//spondyloepimetaphyseal dysplasia, missouri type	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"	0	0	91
Osteogenesis imperfecta, type ix	oi 9//oi type ix//oi, type ix//oi, type 9//oi, type 9 osteogenesis imperfecta, type 9//oi, type ix osteogenesis imperfecta, type ix//oi9//oi9 osteogenesis imperfecta 9//oi//osteogenesis imperfecta, sillence type ii-iii, without abnormality of type i collagen//osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen//osteogenesis imperfecta type 9//osteogenesis imperfecta type ix//ppib osteogenesis imperfecta//osteogenesis imperfecta caused by mutation in ppib//osteogenesis imperfecta, type 9//osteogenesis imperfecta, type ix//osteogenesis imperfecta, type ix; oi9//type ix	PPIB	PPIB	https://raresource.nih.gov/literature/disease/0010619	0010619			C1850169			peptidylprolyl isomerase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteogenesis imperfecta, type ix"	0	0	2934
Smith-McCort dysplasia	smith mccort dysplasia//smith-mccort dwarfism	DYM;RAB33B	DYM;RAB33B	https://raresource.nih.gov/literature/disease/0010620	0010620	615222	178355	C1846431			dymeclin;RAB33B, member RAS oncogene family	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Smith-McCort dysplasia"	0	0	16
Spondyloepiphyseal dysplasia tarda	autosomal dominant spondyloepiphyseal dysplasia tarda//spondyloepiphyseal dysplasia tarda, autosomal dominant	TRAPPC2	TRAPPC2	https://raresource.nih.gov/literature/disease/0010624	0010624	184100	93284				trafficking protein particle complex subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondyloepiphyseal dysplasia tarda"	0	0	113
Complement component 8 deficiency, type ii	c8 beta deficiency//c8 deficiency, type ii//c8 deficiency//c8 deficiency type ii//c8 deficiency, type 2//c8b deficiency//c8b classic complement early component deficiency//c8d2//complement c8 deficiency, type ii//complement component 8b deficiency//complement component 8 deficiency type 2//complement component 8 deficiency type ii//human complement c8-beta deficiency//classic complement early component deficiency caused by mutation in c8b//complement component 8 deficiency, type 2//complement component 8 deficiency, type ii//complement component 8 deficiency, type ii; c8d2//type ii complement component 8 deficiency//type ii	C8B	C8B	https://raresource.nih.gov/literature/disease/0010625	0010625			C3151080			complement C8 beta chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 8 deficiency, type ii"	0	0	1549
Complement component 8 deficiency, type i	c8 alpha-gamma deficiency//c8 deficiency, type i//c8 deficiency//c8 deficiency type i//c8 deficiency, type 1//c81 deficiency//c8a classic complement early component deficiency//c8ag deficiency//c8d1//complement c8 deficiency, type i//complement component 8 deficiency type 1//complement component 8 deficiency type i//classic complement early component deficiency caused by mutation in c8a//complement component 8 deficiency, type 1//complement component 8 deficiency, type i//complement component 8 deficiency, type i; c8d1//type i complement component 8 deficiency//type i	C8A	C8A	https://raresource.nih.gov/literature/disease/0010626	0010626			C3151081			complement C8 alpha chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Complement component 8 deficiency, type i"	0	0	1198
Growth delay due to insulin-like growth factor type 1 deficiency	growth retardation with sensorineural deafness and mental retardation//growth delay - deafness- intellectual disability//growth delay-deafness-intellectual disability syndrome//growth delay-hearing loss-intellectual disability syndrome//igf-1 deficiency//igf-i deficiency//igf1 deficiency//insulin growth factor i deficiency//insulin-like growth factor i deficiency//primary insulin-like growth factor deficiency//growth delay due to insulin-like growth factor type 1 deficiency//growth delay-deafness- intellectual disability syndrome//growth retardation with sensorineural deafness and intellectual disability//insulin-like growth factor 1 deficiency	IGF1	IGF1	https://raresource.nih.gov/literature/disease/0010627	0010627	608747	73272	C1837475			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"	0	0	299
Congenital tufting enteropathy	cte//congenital enteropathy//congenital epithelial dysplasia of intestine//congenital familial intractable diarrhea with enterocytes assembly abnormalities//congenital familial intractable diarrhea with epithelial or epithelium abnormalities//diar5//enteropathy, congenital tufting//epcam secretory diarrhea//ied//intestinal epithelial cell dysplasia//intestinal epithelial dysplasia//non-syndromic congenital tufting enteropathy//tufting enteropathy//congenital diarrhea 5 with tufting enteropathy//congenital diarrhoea 5 with tufting enteropathy//congenital familial intractable diarrhoea with epithelial or epithelium abnormalities//congenital tufting enteropathy//diarrhea 5, with tufting enteropathy, congenital//diarrhea 5, with tufting enteropathy, congenital; diar5//secretory diarrhea caused by mutation in epcam	EPCAM	EPCAM	https://raresource.nih.gov/literature/disease/0010630	0010630	613217	92050				epithelial cell adhesion molecule	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital tufting enteropathy"	0	0	1028
Anaplastic oligoastrocytoma	aoast//anaplastic oligoastrocytoma, nos//anaplastic oligoastrocytoma, not otherwise specified//who grade iii mixed glioma//amoa//anaplastic mixed glioma//anaplastic oligoastrocytoma	IDH2	IDH2	https://raresource.nih.gov/literature/disease/0010637	0010637		251663	C0431108			isocitrate dehydrogenase (NADP(+)) 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Anaplastic oligoastrocytoma"	0	0	196
Carney-Stratakis syndrome	carney-stratakis syndrome//carney stratakis dyad//carney stratakis syndrome//carney dyad//carney-stratakis dyad//carney-stratakis dyad of paraganglioma and gastric stromal sarcoma//gist-paraganglioma dyad//paraganglioma and gastrointestinal stromal tumor//paraganglioma and gist//paraganglioma and gastric stromal sarcoma//paraganglioma and gastric stromal sarcoma syndrome//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			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"	0	0	61
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	smd-crd//smdcrd//spondylometaphyseal dysplasia with cone-rod dystrophy//spondylometaphyseal dysplasia with cone-rod dystrophy; smdcrd//spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	PCYT1A	https://raresource.nih.gov/literature/disease/0010647	0010647	608940	85167	C1837073			phosphate cytidylyltransferase 1A, choline	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	0	0	4
Retinal cone dystrophy 3a	achm6//achromatopsia 6//cone dystrophy with night blindness and supernormal rod responses, pde6h-related//cone dystrophy with night blindness and supernormal rod responses//cone dystrophy with night blindness and supernormal rod responses pde6h-related//rcd3a//retinal cone dystrophy 3//retinal cone dystrophy 3a//pde6h-related//retinal cone dystrophy 3a; rcd3a//retinal cone dystrophy type 3a	PDE6H	PDE6H	https://raresource.nih.gov/literature/disease/0010648	0010648			C3552227			phosphodiesterase 6H	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal cone dystrophy 3a"	0	0	None
Cone dystrophy with supernormal rod response	cdsrr//cone dystrophy with night blindness and supernormal rod responses, kcnv2-related//cone dystrophy with supernormal rod responses//cone dystrophy with night blindness and supernormal rod responses kcnv2 related//cone dystrophy with supernormal rod erg//cone dystrophy with supernormal rod electroretinogram//cone dystrophy with supernormal scotopic electroretinogram//rcd3b//retinal cone dystrophy 3b//cone dystrophy with supernormal rod response//retinal cone dystrophy 3b; rcd3b//retinal cone dystrophy type 3b	KCNV2	KCNV2	https://raresource.nih.gov/literature/disease/0010649	0010649	610356	209932				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"	0	0	9
Retinal cone dystrophy 4	cacna2d4 cone dystrophy//rcd4//cone dystrophy caused by mutation in cacna2d4//retinal cone dystrophy 4//retinal cone dystrophy 4; rcd4//retinal cone dystrophy type 4	CACNA2D4	CACNA2D4	https://raresource.nih.gov/literature/disease/0010650	0010650			C1864849			calcium voltage-gated channel auxiliary subunit alpha2delta 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Retinal cone dystrophy 4"	0	0	None
Cone-rod dystrophy 1	cord1//crd1//cone-rod dystrophy 1//cone-rod dystrophy 1; cord1//cone-rod dystrophy type 1	CORD1	CORD1	https://raresource.nih.gov/literature/disease/0010651	0010651			C1833564			Cone rod dystrophy 1, autosomal dominant	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 1"	0	0	69
Cone-rod dystrophy, x-linked, 1	cod1//cone dystrophy 1, x-linked//cordx1//cone dystrophy x-linked 1//cone-rod dystrophy x-linked 1//x-linked cone dystrophy 1//x-linked cone-rod dystrophy type 1//cone-rod dystrophy, x-linked, 1//cone-rod dystrophy, x-linked, 1; cordx1//cone-rod dystrophy, x-linked, type 1	RPGR	RPGR	https://raresource.nih.gov/literature/disease/0010652	0010652			C1844777			retinitis pigmentosa GTPase regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy, x-linked, 1"	0	0	4
Cone-rod dystrophy 3	abca4 cone-rod dystrophy//cord3//cone-rod dystrophy 3//cone-rod dystrophy 3; cord3//cone-rod dystrophy caused by mutation in abca4//cone-rod dystrophy type 3	ABCA4	ABCA4	https://raresource.nih.gov/literature/disease/0010653	0010653			C1858806			ATP binding cassette subfamily A member 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 3"	0	0	2
Cone-rod dystrophy, x-linked, 3	cordx3//cone-rod dystrophy x-linked 3//x-linked cone-rod dystrophy type 3//cone-rod dystrophy, x-linked, 3//cone-rod dystrophy, x-linked, 3; cordx3//cone-rod dystrophy, x-linked, type 3	CACNA1F	CACNA1F	https://raresource.nih.gov/literature/disease/0010654	0010654			C1845407			calcium voltage-gated channel subunit alpha1 F	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy, x-linked, 3"	0	0	6
Cone-rod dystrophy 5	cord5//pitpnm3 cone-rod dystrophy//cone-rod dystrophy 5//cone-rod dystrophy 5; cord5//cone-rod dystrophy caused by mutation in pitpnm3//cone-rod dystrophy type 5	PITPNM3	PITPNM3	https://raresource.nih.gov/literature/disease/0010655	0010655			C1832976			PITPNM family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 5"	0	0	3
Cone-rod dystrophy 6	cord6//cone degeneration, autosomal dominant progressive//cone dystrophy progressive//cone-rod dystrophy 6//gucy2d cone-rod dystrophy//rcd2//retinal cone dystrophy 2//cone-rod dystrophy 6; cord6//cone-rod dystrophy caused by mutation in gucy2d//cone-rod dystrophy type 6	GUCY2D	GUCY2D	https://raresource.nih.gov/literature/disease/0010656	0010656			C1866293			guanylate cyclase 2D, retinal	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone-rod dystrophy 6"	0	0	17
Autosomal dominant focal dystonia, DYT25 type	abnormal craniofacial muscle tone//abnormal craniofacial posture//abnormal facial muscle tone//adult onset cranial-cervical dystonia//craniofacial dystonia//dyt-gnal//dyt25//distorted craniofacial posture//dystonia 25//dystonia-25//facial dystonia//cranio-facial dystonia	GNAL	GNAL	https://raresource.nih.gov/literature/disease/0010667	0010667	615073	329466				G protein subunit alpha L	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant focal dystonia, DYT25 type"	0	0	70
UMOD-related autosomal dominant tubulointerstitial kidney disease	admckd2//adtkd due to umod mutations//adtkd-umod//adtkd1//autosomal dominant tubulointerstitial kidney disease, umod-related//autosomal dominant medullary cystic kidney disease type 2//autosomal dominant medullary cystic kidney disease type 2 (former)//autosomal dominant tubulointerstitial kidney disease due to umod mutations//familial juvenile hyperuricemic nephropathy//fjhn//fjhn type 1//familial juvenile hyperuricemic nephropathy 1//familial juvenile gouty nephropathy//familial juvenile hyperuricemic nephropathy type 1//familial nephropathy with gout//glomerulocystic kidney disease with hyperuricemia and isosthenuria//gouty nephropathy, familial juvenile//hnfj1//hyperuricemic nephropathy, familial juvenile, 1//mckd2//medullary cystic kidney disease 2//medullary cystic kidney disease 2, autosomal dominant//medullary cystic kidney disease 2 (former)//medullary cystic kidney disease type 2//umod familial juvenile hyperuricemic nephropathy//umod-associated kidney disease//umod-associated fjhn//umod-associated familial juvenile hyperuricemic nephropathy//umod-related adtkd//umod-related kidney disease//uromodulin kidney disease//uromodulin-associated kidney disease//autosomal dominant medullary cystic kidney disease with hyperuricemia//autosomal dominant tubulointerstitial kidney disease due to mutations in umod//familial juvenile hyperuricaemic nephropathy//familial juvenile hyperuricemic nephropathy caused by mutation in umod//hyperuricemic nephropathy, familial juvenile 1//hyperuricemic nephropathy, familial juvenile, 1; hnfj1//hyperuricemic nephropathy, familial juvenile, type 1//uromodulin storage disease	UMOD	UMOD	https://raresource.nih.gov/literature/disease/0010679	0010679	162000	88950				uromodulin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UMOD-related autosomal dominant tubulointerstitial kidney disease"	0	0	169
Pseudohypoparathyroidism type 1B	php ib//php1b//php 1b//renal parathyroid hormone resistance//pseudohypoparathyroidism type 1b//pseudohypoparathyroidism type ib//pseudohypoparathyroidism, type 1b//pseudohypoparathyroidism, type ib//pseudohypoparathyroidism, type ib; php1b	STX16;GNAS	STX16;GNAS	https://raresource.nih.gov/literature/disease/0010680	0010680	603233	94089	C1864100	C548075		syntaxin 16;GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pseudohypoparathyroidism type 1B"	0	0	183
Pseudohypoparathyroidism type 1C	php ic//php1c//pseudohypoparathyroidism, type ic//php 1c//pseudohypoparathyroidism type 1c//pseudohypoparathyroidism, type 1c//pseudohypoparathyroidism, type ic; php1c	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"	0	0	149
Primary lateral sclerosis	adult-onset pls//adult-onset primary lateral sclerosis//lateral scleroses//lateral scleroses, primary//lateral sclerosis, primary//pls//pls, adult//plsa//plsa1//primary lateral scleroses//scleroses, lateral//scleroses, primary lateral//sclerosis, lateral//sclerosis, primary lateral//lateral sclerosis//primary lateral sclerosis//primary lateral sclerosis, adult, 1//primary lateral sclerosis, adult, 1; plsa1	SPG7	SPG7	https://raresource.nih.gov/literature/disease/0010684	0010684	611637	35689	C0154682			SPG7 matrix AAA peptidase subunit, paraplegin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary lateral sclerosis"	0	0	973
Neuroferritinopathy	adult basal ganglia disease//adult onset basal ganglia disease//basal ganglia disease, adult-onset//basal ganglia disease adult-onset//ferritin related neurodegeneration//ferritin-related neurodegeneration//hereditary ferritinopathy//nbia3//neuroferritinopathy//neurodegeneration with brain iron accumulation 3//neuroferritinopathy; basal ganglia disease, adult-onset//neurodegeneration with brain iron accumulation 3; nbia3//neurodegeneration with brain iron accumulation type 3	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"	0	0	115
Neurodegeneration with brain iron accumulation 2b	atypical neuroaxonal dystrophy//early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline//karak syndrome//nbia2b//neuroaxonal dystrophy, atypical//neurodegeneration with brain iron accumulation, pla2g6-related//neurodegeneration with brain iron accumulation//atypical//neuroaxonal dystrophy//neurodegeneration with brain iron accumulation 2b//neurodegeneration with brain iron accumulation 2b; nbia2b//neurodegeneration with brain iron accumulation type 2b//pla2g6-related	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0010688	0010688			C1857747			phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration with brain iron accumulation 2b"	0	0	1594
Atrial septal defect, ostium primum type	asd//asd - atrial septal defect//asd 1//asd 2//asd i//asd ii//asd ostium primum type//asd, ostium primum type//asd1//atrial septal defect, primum type//atrial septal defect, secundum type//an opening in the wall separating the top two chambers of the heart//atria septal defect//atria septal defect (asd)//atrial septal defect//atrial septal defect ostium primum//atrial septal defects//atrial septal defect (asd)//atrial septum defect//atrial septum primum defect//atrioseptal defect//congenital heart disease, atrial septal defect//coronary sinus defect//defect in the atrial septum//defect, atrial septal//defects, atrial septal//heart septal defects, atrial//hole in heart wall separating two upper heart chambers//interatrial communication//interauricular communication//ostium primum defect//ostium primum, persistent//ostium secundum atrial septal defect//ostium primum asd//pavc//pavsd//patent or persistent foramen ovale//patent or persistent ostium secundum defect (type ii)//patent or persistent sinus venosus defect//persistent ostium primum//primum, persistent ostium//septal defect, atrial//septal defects, atrial//atrial heart septal defect type 1//atrial septal defect 1//atrial septal defect 1; asd1//atrial septal defect, ostium primum type//atrioventricular defect with atrial shunting only//auricular septal defect//congenital atrial septal defect//incomplete atrioventricular canal defect with isolated atrial component//incomplete atrioventricular septal defect with isolated atrial component//interatrial septal defect//interauricular septal defect//ostium primum type//partial atrioventricular canal defect with isolated atrial component//partial atrioventricular septal defect//partial atrioventricular septal defect: ostium primum type//primum atrial septal defect	TLL1	TLL1	https://raresource.nih.gov/literature/disease/0010695	0010695		99106	C0741296	C548006		tolloid like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atrial septal defect, ostium primum type"	0	0	41706
Atrial septal defect, sinus venosus type	asd//asd, sinus venosus type//atrial septal defect sinus venosus//sinus venosus asd//sinus venosus atrial septal defect//sinus venosus atrial septal defects//sinus venosus defect//atrial septal defect, sinus venosus type//sinus venosus type	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[]=Atrial septal defect, sinus venosus type"	0	0	34082
Pontocerebellar hypoplasia type 1	congenital pontocerebellar hypoplasia type 1//mrt32//norman disease//pch1//pch1 - pontocerebellar hypoplasia type 1//pch1a//pontocerebellar hypoplasia with anterior horn cell disease//pontocerebellar hypoplasia with infantile spinal muscular atrophy//pontocerebellar hypoplasia, type 1a//mental retardation, autosomal recessive 32//mental retardation, autosomal recessive 32; mrt32//pontocerebellar hypoplasia type 1	SLC25A46;VRK1;EXOSC3;EXOSC8;EXOSC9;AGTPBP1	SLC25A46;VRK1;EXOSC3;EXOSC8;EXOSC9;AGTPBP1	https://raresource.nih.gov/literature/disease/0010704	0010704	619303	2254	C1843504	C548069		solute carrier family 25 member 46;VRK serine/threonine kinase 1;exosome component 3;exosome component 8;exosome component 9;ATP/GTP binding carboxypeptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 1"	0	0	38
Pontocerebellar hypoplasia type 2	congenital pontocerebellar hypoplasia type 2//pch2//pch2 - pontocerebellar hypoplasia type 2//progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy//pontocerebellar hypoplasia type 2	TSEN54;TSEN15;SEPSECS;TSEN34;TSEN2	TSEN54;TSEN15;SEPSECS;TSEN34;TSEN2	https://raresource.nih.gov/literature/disease/0010705	0010705	612389	2524	C2932714	C548070		tRNA splicing endonuclease subunit 54;tRNA splicing endonuclease subunit 15;Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase;tRNA splicing endonuclease subunit 34;tRNA splicing endonuclease subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pontocerebellar hypoplasia type 2"	0	0	34
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome//dystonia-parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease//dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease//hmdpc//hmdpc - hypermanganesemia with dystonia, polycythemia and cirrhosis//hmndyt1//hypermanganesemia with dystonia, polycythemia, and cirrhosis//hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia//hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia//hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia//hypermanganesemia with dystonia 1//hypermanganesemia with dystonia polycythemia and cirrhosis//parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease//hypermanganesemia with dystonia 1; hmndyt1//hypermanganesemia with dystonia, polycythemia, and cirrhosis; hmdpc	SLC30A10	SLC30A10	https://raresource.nih.gov/literature/disease/0010706	0010706	613280	309854	C2750442			solute carrier family 30 member 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"	0	0	6
Deafness with labyrinthine aplasia, microtia, and microdontia	congenital deafness with inner ear agenesis, microtia, and microdontia//congenital 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 labyrinthine aplasia, microtia, and microdontia//deafness congenital with inner ear agenesis microtia and microdontia//deafness with labyrinthine aplasia microtia and microdontia (lamm)//hearing loss with labyrinthine aplasia//hearing loss with labyrinthine aplasia, microtia, and microdontia//lamm syndrome//microdontia - type i microtia - deafness//microdontia-type i microtia-deafness syndrome//microdontia-type i microtia-hearing loss syndrome//and microdontia//deafness with labyrinthine aplasia, microtia, and microdontia//deafness, congenital, with inner ear agenesis, microtia, and microdontia//microtia	FGF3	FGF3	https://raresource.nih.gov/literature/disease/0010707	0010707	610706	90024	C1853144	C548011		fibroblast growth factor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness with labyrinthine aplasia, microtia, and microdontia"	0	0	1400
Pontocerebellar hypoplasia type 3	cerebellar atrophy with progressive microcephaly//clam//congenital pontocerebellar hypoplasia type 3//pch with optic atrophy//pch without dyskinesia//pch3//pch3 - pontocerebellar hypoplasia type 3//pclo non-syndromic pontocerebellar hypoplasia//non-syndromic pontocerebellar hypoplasia caused by mutation in pclo//pontocerebellar hypoplasia type 3//pontocerebellar hypoplasia, type 3//pontocerebellar hypoplasia, type 3; pch3	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"	0	0	24
Pontocerebellar hypoplasia type 6	congenital pontocerebellar hypoplasia type 6//encephalopathy, fatal infantile, with mitochondrial respiratory chain defects//encephalopathy fatal infantile with mitochondrial respiratory chain defects//fatal infantile encephalopathy with mitochondrial respiratory chain defect//fatal infantile encephalopathy with mitochondrial respiratory chain defects//pch6//pch6 - pontocerebellar hypoplasia type 6//rars2 non-syndromic pontocerebellar hypoplasia//non-syndromic pontocerebellar hypoplasia caused by mutation in rars2//pontocerebellar hypoplasia type 6//pontocerebellar hypoplasia, type 6//pontocerebellar hypoplasia, type 6; pch6	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"	0	0	28
Legius syndrome	lgss//neurofibromatosis type 1-like syndrome//nf1-like syndrome//nfls//nfls - neurofibromatosis type 1-like syndrome//neurofibromatosis 1-like syndrome//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"	0	0	121
Noonan syndrome-like disorder with loose anagen hair	mazzanti syndrome//ns/lah//nslh//nslh1//nslh2//noonan syndrome-like disorder with loose anagen hair 1//noonan syndrome-like disorder with loose anagen hair 1; nslh1//noonan syndrome-like disorder with loose anagen hair 2; nslh2//noonan syndrome-like disorder with loose anagen hair; nslh//noonan-like syndrome with loose anagen hair//tosti syndrome	SHOC2;PPP1CB	SHOC2;PPP1CB	https://raresource.nih.gov/literature/disease/0010719	0010719	617506	2701	C3501846			SHOC2 leucine rich repeat scaffold protein;protein phosphatase 1 catalytic subunit beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome-like disorder with loose anagen hair"	0	0	24
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	fatal congenital hypertrophic cardiomyopathy due to gsd//fatal congenital hypertrophic cardiomyopathy due to glycogenosis//glycogen storage disease of heart//lethal congenital glycogen storage disease of the heart//phosphorylase kinase deficiency of heart//prkag2 glycogen storage disease//fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease//fatal congenital nonlysosomal cardiac glycogenosis//glycogen storage disease caused by mutation in prkag2//glycogen storage disease of heart, lethal congenital//lethal congenital glycogen storage disease of heart	PRKAG2	PRKAG2	https://raresource.nih.gov/literature/disease/0010728	0010728	261740	439854	C1849813			protein kinase AMP-activated non-catalytic subunit gamma 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"	0	0	1
Chronic visceral acid sphingomyelinase deficiency	acid sphingomyelinase deficiency, visceral type//asmd, visceral type//chronic visceral asmd//niemann-pick disease, intermediate, with visceral involvement and rapid progression//niemann-pick disease, type e//niemann-pick disease, type f//npd-b//niemann pick disease, adult non neuronopathic//niemann pick disease, non neuronopathic type//niemann pick disease, type b//niemann pick disease, type e//niemann pick disease, visceral//niemann pick disease type b//niemann pick's disease type b//niemann pick's disease type e//niemann-pick disease, type b//niemann-pick disease, adult non-neuronopathic//niemann-pick disease, non-neuronopathic type//niemann-pick disease, visceral//niemann-pick disease non-neuropathic type//niemann-pick disease type b//niemann-pick disease type e//niemann-pick disease, chronic non-neuronopathic//niemann-pick's disease type b//niemann-pick's disease type e//type b niemann pick disease//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[]=Chronic visceral acid sphingomyelinase deficiency"	0	0	169
Pyridoxal phosphate-responsive seizures	epileptic encephalopathy, neonatal, pnpo-related//pnpo deficiency//pnpo-related neonatal epileptic encephalopathy//pnpod//pyridoxal 5'-phosphate-dependent epilepsy//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//seizures, pyridoxine-resistant, plp-sensitive//pyridoxal phosphate-responsive seizures//pyridoxamine 5-prime-phosphate oxidase deficiency; pnpod//pyridoxine 5' phosphate oxidase deficiency	PNPO	PNPO	https://raresource.nih.gov/literature/disease/0010730	0010730	610090	79096	C1864723			pyridoxamine 5'-phosphate oxidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pyridoxal phosphate-responsive seizures"	0	0	41
McLeod neuroacanthocytosis syndrome	mclds//mcleod phenotype//mcleod syndrome with chronic granulomatous disease//mls//mcleod syndrome//mcleod syndrome; mclds//neuroacanthocytosis, mcleod type//x-linked mcleod syndrome	XK	XK	https://raresource.nih.gov/literature/disease/0010731	0010731	300842	59306	C0398568			X-linked Kx blood group	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=McLeod neuroacanthocytosis syndrome"	0	0	529
Leukoencephalopathy with calcifications and cysts	lcc//labrune syndrome	SNORD118	SNORD118	https://raresource.nih.gov/literature/disease/0010732	0010732	614561	542310				small nucleolar RNA, C/D box 118	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy with calcifications and cysts"	0	0	395
Pleuropulmonary blastoma familial tumor susceptibility syndrome	dicer1 syndrome//dicer1-related pleuropulmonary blastoma//dicer1-related pleuropulmonary blastoma cancer predisposition syndrome//ppb familial tumor and dysplasia syndrome//ppb familial tumor susceptibility syndrome//ppbftds//pleuro-pulmonary blastoma familial tumor susceptibility syndrome//pleuropulmonary blastoma familial tumor and dysplasia syndrome//pleuropulmonary blastoma family tumor susceptibility syndrome//pleuropulmonary blastoma familial tumor susceptibility syndrome	DICER1	DICER1	https://raresource.nih.gov/literature/disease/0010734	0010734	601200	284343				dicer 1, ribonuclease III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pleuropulmonary blastoma familial tumor susceptibility syndrome"	0	0	88
Primary hyperoxaluria type 3	hoga1 primary hyperoxaluria//hp3//ph iii//hyperoxaluria, primary, type 3//hyperoxaluria, primary, type iii//hyperoxaluria, primary, type iii; hp3//primary hyperoxaluria caused by mutation in hoga1//primary hyperoxaluria type 3//primary hyperoxaluria type iii	HOGA1	HOGA1	https://raresource.nih.gov/literature/disease/0010738	0010738	613616	93600				4-hydroxy-2-oxoglutarate aldolase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hyperoxaluria type 3"	0	0	33
Proximal 16p11.2 microdeletion syndrome	16p11.2 deletion syndrome//autism, susceptibility to, 14a//auts14a//chromosome 16p11.2 deletion syndrome//del(16)(p11.2)//microdeletion 16p11.2//monosomy 16p11.2//proximal del(16)(p11.2)//proximal monosomy 16p11.2//chromosome 16p11.2 deletion syndrome, 593-kb//proximal 16p11.2 microdeletion syndrome	SH2B1	SH2B1	https://raresource.nih.gov/literature/disease/0010740	0010740	611913	261197				SH2B adaptor protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal 16p11.2 microdeletion syndrome"	0	0	21
Pachyonychia congenita	congenital pachyonychia//jackson lawler syndrome (pc 2)//jackson lawler type pachyonychia congenita//jackson-lawler syndrome (pc-2)//jackson-lawler type pachyonychia congenita//jadassohn lewandowski syndrome (pc 1)//jadassohn lewandowsky syndrome//jadassohn-lewandowski syndrome (pc-1)//jadassohn-lewandowsky syndrome//pachyonychia congenita, jadassohn-lewandowsky type//pc//pachyonychia congenita jackson lawler type//pachyonychia congenita syndrome//pachyonychia congenita tarda, type 1//pachyonychia congenita type 1//pachyonychia congenita, jackson lawler type//pachyonychia congenita, jackson-lawler type//pachyonychia congenita, jadassohn lewandowsky type//pachyonychia congenita, type 1//pachyonychia congenita, type 2//pachyonychia, congenital//syndrome, jackson-lawler (pc-2)//syndrome, jadassohn-lewandowski (pc-1)//type 1 pachyonychia congenita//type 2 pachyonychia congenita//pachyonychia congenita	KRT6A;KRT17;KRT16;KRT6B	KRT6A;KRT17;KRT16;KRT6B	https://raresource.nih.gov/literature/disease/0010753	0010753	167210	2309	C0265334	D053549		keratin 6A;keratin 17;keratin 16;keratin 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pachyonychia congenita"	0	0	11818
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	16p13.3 deletion syndrome//chromosome 16p13.3 deletion syndrome//chromosome 16p13.3 deletion syndrome, proximal//rsts deletion syndrome//rubinstein-taybi deletion syndrome	CREBBP	CREBBP	https://raresource.nih.gov/literature/disease/0010754	0010754	610543	353281				CREB binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"	0	0	1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency	gsd 0b//gsd due to muscle and heart glycogen synthase deficiency//gsd type 0b//gsd0b//glycogen storage disease type 0, muscle//glycogen storage disease type 0b//glycogenosis due to muscle and heart glycogen synthase deficiency//glycogenosis type 0b//muscle glycogen storage disease 0//muscle glycogen synthase deficiency//glycogen storage disease 0, muscle//glycogen storage disease 0, muscle; gsd0b//glycogen storage disease due to glycogen synthase deficiency of heart//glycogen storage disease due to muscle and heart glycogen synthase deficiency//heart glycogen storage disease due to glycogen synthase deficiency	GYS1	GYS1	https://raresource.nih.gov/literature/disease/0010760	0010760	611556	137625				glycogen synthase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glycogen storage disease due to muscle and heart glycogen synthase deficiency"	0	0	2
Hereditary arterial and articular multiple calcification syndrome	acdc//arterial calcification due to deficiency of cd73//arterial calcification and distal joint calcification//arterial calcification due to cd73 deficiency//calja//calcification of joints and arteries//calcification of joints and arteries; calja//arterial calcification due to deficiency of cd73:acdc//hereditary arterial and articular multiple calcification syndrome	NT5E	NT5E	https://raresource.nih.gov/literature/disease/0010762	0010762	211800	289601				5'-nucleotidase ecto	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary arterial and articular multiple calcification syndrome"	0	0	27
Hypermethioninemia due to glycine N-methyltransferase deficiency	gnmt deficiency//glycine n-methyltransferase deficiency//hypermethioninemia due to gnmt (glycine n-methyltransferase) deficiency//hypermethioninemia due to gnmt deficiency//hypermethioninemia due to deficiency of glycine n-methyltransferase//hypermethioninemia due to glycine n-methyltransferase 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[]=Hypermethioninemia due to glycine N-methyltransferase deficiency"	0	0	16
Congenital factor XIII deficiency	congenital factor xiii deficiency//deficiencies, factor 13//deficiencies, factor thirteen//deficiencies, factor xiii//deficiency, factor 13//deficiency, factor thirteen//deficiency, factor xiii//factor 13 deficiencies//factor 13 deficiency//factor thirteen deficiencies//factor thirteen deficiency//factor xiii deficiencies//factor xiii deficiency//factor xiii deficiency disease//fibrin stabilizing factor deficiency//fibrin-stabilizing factor deficiency//hereditary factor xiii deficiency disease//deficiency, laki-lorand factor	F13B;F13A1	F13B;F13A1	https://raresource.nih.gov/literature/disease/0010766	0010766	613225	331	C0015530			coagulation factor XIII B chain;coagulation factor XIII A chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital factor XIII deficiency"	0	0	471
MOGS-CDG	cdg 2b//cdg iib//cdg syndrome type iib//cdg-iib//cdg2b//cdgiib//carbohydrate deficient glycoprotein syndrome type iib//congenital disorder of glycosylation type 2b//congenital disorder of glycosylation type iib//congenital disorder of glycosylation, type iib//gcs1-cdg//glucosidase i deficiency//glucosidase 1 deficiency//mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation//mogs-cdg (cdg-iib)//mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation//congenital disorder of glycosylation, type iib; cdg2b	MOGS	MOGS	https://raresource.nih.gov/literature/disease/0010767	0010767	606056	79330	C1853736			mannosyl-oligosaccharide glucosidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MOGS-CDG"	0	0	14
Familial or sporadic hemiplegic migraine	familiar or sporadic hemiplegic migraine//familial or sporadic hemiplegic migraine//hemiplegic migraine	PRRT2;ATP1A2;CACNA1A;SCN1A	PRRT2;ATP1A2;CACNA1A;SCN1A	https://raresource.nih.gov/literature/disease/0010768	0010768	602481	569				proline rich transmembrane protein 2;ATPase Na+/K+ transporting subunit alpha 2;calcium voltage-gated channel subunit alpha1 A;sodium voltage-gated channel alpha subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial or sporadic hemiplegic migraine"	0	0	476
Laing early-onset distal myopathy	distal myopathy type 1//gowers disease//laing distal myopathy//mpd1//myh7-related skeletal myopathy//myopathy, distal, early-onset, autosomal dominant//myopathy, late distal hereditary//myopathy distal, type 1//myopathy, distal, 1//myopathy, distal, 1; mpd1//myopathy, distal, type 1//myosin storage myopathy	MYH7	MYH7	https://raresource.nih.gov/literature/disease/0010769	0010769	160500	59135				myosin heavy chain 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laing early-onset distal myopathy"	0	0	66
Kallmann syndrome	anosmia eunuchoidism//anosmic hypogonadism//anosmic hypogonadisms//anosmic idiopathic hypogonadotropic hypogonadism//autosomal dominant form of kallmann syndrome//autosomal recessive form of kallmann syndrome//congenital hypogonadotropic hypogonadism with anosmia//dysplasia olfactogenitalis of de morsier//dysplasia olfactogenitalis of de morsier (formerly)//gonadotrophin deficiency with anosmia//hha//hypogonadism with anosmia//hypogonadism, anosmic//hypogonadisms, anosmic//hypogonadotropic hypogonadism and anosmia//hypogonadotropic hypogonadism, anosmia, and midline cranial anomalies (cleft lip, cleft palate and imperfect fusion)//hypogonadotropic hypogonadism-anosmia syndrome//ks//kallman syndrome//kallman's syndrome//kallmann syndrome//kallmann syndrome 1//kallmann syndrome 2//kallmann syndrome 3//kallmann syndrome, type 1, x-linked//kallmann syndrome, type 3, recessive//kallmann's syndrome//kallmanns syndrome//olfacto-genital pathological sequence//olfactogenital dysplasia//syndrome, kallmann//syndrome, kallmann's//familial hypogonadism with anosmia//hypogonadotropic hypogonadism with anosmia	PROK2;CHD7;FEZF1;NDNF;CCDC141;DCC;DUSP6;FGF17;FGF8;FGFR1;FLRT3;HESX1;HS6ST1;ANOS1;SEMA3A;SOX10;TACR3;WDR11;SPRY4;PROKR2;IL17RD	PROK2;CHD7;FEZF1;NDNF;CCDC141;DCC;DUSP6;FGF17;FGF8;FGFR1;FLRT3;HESX1;HS6ST1;ANOS1;SEMA3A;SOX10;TACR3;WDR11;SPRY4;PROKR2;IL17RD	https://raresource.nih.gov/literature/disease/0010771	0010771	610628	478	C0162809	D017436		prokineticin 2;chromodomain helicase DNA binding protein 7;FEZ family zinc finger 1;neuron derived neurotrophic factor;coiled-coil domain containing 141;DCC netrin 1 receptor;dual specificity phosphatase 6;fibroblast growth factor 17;fibroblast growth factor 8;fibroblast growth factor receptor 1;fibronectin leucine rich transmembrane protein 3;HESX homeobox 1;heparan sulfate 6-O-sulfotransferase 1;anosmin 1;semaphorin 3A;SRY-box transcription factor 10;tachykinin receptor 3;WD repeat domain 11;sprouty RTK signaling antagonist 4;prokineticin receptor 2;interleukin 17 receptor D	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Kallmann syndrome"	0	0	6210
Hypogonadotropic hypogonadism 4 with or without anosmia	hh4//hypogonadotropic hypogonadism 4 with anosmia//kal4//kallmann syndrome 4//prok2 hypogonadotropic hypogonadism//prok2-related gnrh deficiency (kallmann syndrome 4)//prok2-related isolated gonadotropin-releasing hormone (gnrh) deficiency//hypogonadotropic hypogonadism 4 with or without anosmia//hypogonadotropic hypogonadism 4 with or without anosmia; hh4//hypogonadotropic hypogonadism caused by mutation in prok2	PROK2	PROK2	https://raresource.nih.gov/literature/disease/0010772	0010772			C3552343			prokineticin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 4 with or without anosmia"	0	0	1
Hypogonadotropic hypogonadism 5 with or without anosmia	chd7 hypogonadotropic hypogonadism//chd7-related gnrh deficiency (kallmann syndrome 5)//chd7-related isolated gonadotropin-releasing hormone (gnrh) deficiency//hh5//hypogonadotrophic hypogonadism 5 without anosmia//hypogonadotropic hypogonadism 5 with anosmia//kal5//kallmann syndrome 5//hypogonadotropic hypogonadism 5 with or without anosmia//hypogonadotropic hypogonadism 5 with or without anosmia; hh5//hypogonadotropic hypogonadism caused by mutation in chd7	CHD7	CHD7	https://raresource.nih.gov/literature/disease/0010773	0010773			C3552553			chromodomain helicase DNA binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 5 with or without anosmia"	0	0	None
Hypogonadotropic hypogonadism 6 with or without anosmia	fgf8 hypogonadotropic hypogonadism//fgf8-related gnrh deficiency (kallmann syndrome 6)//fgf8-related isolated gonadotropin-releasing hormone (gnrh) deficiency//hh6//hypogonadotropic hypogonadism 6 with anosmia//hypogonadotropic hypogonadism 6 without anosmia//kal6//kallmann syndrome 6//hypogonadotropic hypogonadism 6 with or without anosmia//hypogonadotropic hypogonadism 6 with or without anosmia; hh6//hypogonadotropic hypogonadism caused by mutation in fgf8	FGF8	FGF8	https://raresource.nih.gov/literature/disease/0010774	0010774			C3552574			fibroblast growth factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypogonadotropic hypogonadism 6 with or without anosmia"	0	0	None
Syndromic multisystem autoimmune disease due to Itch deficiency	admfd//autoimmune disease, multisystem, with facial dysmorphism//autoimmune disease, syndromic multisystem//itch e3 ubiquitin ligase deficiency//syndromic multisystem autoimmune disease//autoimmune disease, multisystem, with facial dysmorphism; admfd//syndromic multisystem autoimmune disease due to itch deficiency	ITCH	ITCH	https://raresource.nih.gov/literature/disease/0010775	0010775	613385	228426				itchy E3 ubiquitin protein ligase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Syndromic multisystem autoimmune disease due to Itch deficiency"	0	0	4
Recurrent infection due to specific granule deficiency	cebpe specific granule deficiency//lactoferrin-deficient neutrophils//neutrophil lactoferrin deficiency//neutrophil-specific granule deficiency//sgd//sgd - specific granule deficiency//sgd1//sgd2//specific granule deficiency//recurrent infection due to specific granule deficiency//specific granule deficiency 1; sgd1//specific granule deficiency 2//specific granule deficiency 2; sgd2//specific granule deficiency caused by mutation in cebpe//specific granule deficiency; sgd	SMARCD2;CEBPE	SMARCD2;CEBPE	https://raresource.nih.gov/literature/disease/0010778	0010778	245480	169142				SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2;CCAAT enhancer binding protein epsilon	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Recurrent infection due to specific granule deficiency"	0	0	173
Goldmann-Favre syndrome	escs//enhanced s-cone syndrome//favre hyaloideoretinal degeneration//goldmann-favre syndrome//retinoschisis with early hemeralopia//retinoschisis with early nyctalopia//enhanced s-cone syndrome; escs	NR2E3	NR2E3	https://raresource.nih.gov/literature/disease/0010781	0010781	268100	53540	C0339541			nuclear receptor subfamily 2 group E member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Goldmann-Favre syndrome"	0	0	184
Bilateral frontoparietal polymicrogyria	bfpp//bfpp - bilateral frontoparietal polymicrogyria//cerebellar ataxia with neuronal migration defect//bilateral frontoparietal polymicrogyria//polymicrogyria, bilateral frontoparietal//polymicrogyria, bilateral frontoparietal; bfpp	PTEN;ADGRG1	PTEN;ADGRG1	https://raresource.nih.gov/literature/disease/0010784	0010784	606854	101070	C1847352			phosphatase and tensin homolog;adhesion G protein-coupled receptor G1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral frontoparietal polymicrogyria"	0	0	49
Bilateral parasagittal parieto-occipital polymicrogyria	btop//bilateral parasagittal parieto-occipital polymicrogyria//polymicrogyria, bilateral temporooccipital//polymicrogyria, bilateral temporooccipital; btop	FIG4	FIG4	https://raresource.nih.gov/literature/disease/0010785	0010785	612691	208441				FIG4 phosphoinositide 5-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral parasagittal parieto-occipital polymicrogyria"	0	0	86
Bilateral generalized polymicrogyria	bilateral generalised polymicrogyria//microcephaly, short stature, and polymicrogyria//mssp//pmgys//polymicrogyria with seizures//bilateral generalized polymicrogyria//microcephaly, short stature, and polymicrogyria with or without seizures//microcephaly, short stature, and polymicrogyria with or without seizures; mssp//polymicrogyria with seizures; pmgys	GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0010786	0010786		208447				glutamate ionotropic receptor NMDA type subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bilateral generalized polymicrogyria"	0	0	18
Loeys-Dietz syndrome	aortic aneurysm syndrome due to tgf-beta receptors anomalies	TGFBR1;TGFBR2	TGFBR1;TGFBR2	https://raresource.nih.gov/literature/disease/0010788	0010788	610168	60030	C2697932			transforming growth factor beta receptor 1;transforming growth factor beta receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-Dietz syndrome"	0	0	637
Cone rod dystrophy		PROM1;GUCY2D;TLCD3B;ATF6;GUCA1A;RAB28;OPN1LW;PRPH2;ADAM9;RPGR;SEMA4A;UNC119;CFAP410;RPGRIP1;CACNA1F;CDHR1;RIMS1;NMNAT1;RAX2;TTLL5;CACNA2D4;CRX;CNGA3;PITPNM3;OPN1MW;AIPL1;ABCA4;POC1B;DRAM2;CFAP418	PROM1;GUCY2D;TLCD3B;ATF6;GUCA1A;RAB28;OPN1LW;PRPH2;ADAM9;RPGR;SEMA4A;UNC119;CFAP410;RPGRIP1;CACNA1F;CDHR1;RIMS1;NMNAT1;RAX2;TTLL5;CACNA2D4;CRX;CNGA3;PITPNM3;OPN1MW;AIPL1;ABCA4;POC1B;DRAM2;CFAP418	https://raresource.nih.gov/literature/disease/0010790	0010790	603649	1872				prominin 1;guanylate cyclase 2D, retinal;TLC domain containing 3B;activating transcription factor 6;guanylate cyclase activator 1A;RAB28, member RAS oncogene family;opsin 1, long wave sensitive;peripherin 2;ADAM metallopeptidase domain 9;retinitis pigmentosa GTPase regulator;semaphorin 4A;unc-119 lipid binding chaperone;cilia and flagella associated protein 410;RPGR interacting protein 1;calcium voltage-gated channel subunit alpha1 F;cadherin related family member 1;regulating synaptic membrane exocytosis 1;nicotinamide nucleotide adenylyltransferase 1;retina and anterior neural fold homeobox 2;tubulin tyrosine ligase like 5;calcium voltage-gated channel auxiliary subunit alpha2delta 4;cone-rod homeobox;cyclic nucleotide gated channel subunit alpha 3;PITPNM family member 3;opsin 1, medium wave sensitive;aryl hydrocarbon receptor interacting protein like 1;ATP binding cassette subfamily A member 4;POC1 centriolar protein B;DNA damage regulated autophagy modulator 2;cilia and flagella associated protein 418	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cone rod dystrophy"	0	0	672
Semantic dementia	semantic primary progressive aphasia//semantic variant ppa	TMEM106B;CHMP2B;MAPT;PSEN1;GRN;TREM2	TMEM106B;CHMP2B;MAPT;PSEN1;GRN;TREM2	https://raresource.nih.gov/literature/disease/0010792	0010792	600274	100069	C0338462			transmembrane protein 106B;charged multivesicular body protein 2B;microtubule associated protein tau;presenilin 1;granulin precursor;triggering receptor expressed on myeloid cells 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Semantic dementia"	0	0	1114
Progressive non-fluent aphasia	agramatic variant of ppa//agramatic variant of primary progressive aphasia//non-fluent primary progressive aphasia//non-fluent variant ppa//primary progressive nonfluent aphasia//progressive non-fluent aphasia	TREM2;GRN;VCP;PSEN1;CHMP2B;TMEM106B;MAPT	TREM2;GRN;VCP;PSEN1;CHMP2B;TMEM106B;MAPT	https://raresource.nih.gov/literature/disease/0010793	0010793	607485	100070	C0751706	D057178		triggering receptor expressed on myeloid cells 2;granulin precursor;valosin containing protein;presenilin 1;charged multivesicular body protein 2B;transmembrane protein 106B;microtubule associated protein tau	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive non-fluent aphasia"	0	0	173
Lamellar ichthyosis	baby syndrome, collodion//baby syndrome, harlequin//baby syndromes, collodion//baby syndromes, harlequin//classic lamellar ichthyosis//collodion baby syndrome//collodion baby syndromes//collodion fetus//collodion baby//congenita ii, ichthyosis//congenita iis, ichthyosis//congenital ichthyosiform erythroderma, nonbullous//congenital nonbullous ichthyosiform erythroderma//congenital lamellar ichthyosis//desquamation of newborn//erythroderma ichthyosiforme, nonbullous//erythroderma ichthyosiformes, nonbullous//fetus, collodion//fetus, harlequin//harlequin baby syndrome//harlequin baby syndromes//harlequin fetus//harlequin ichthyoses//harlequin ichthyosis//ichthyose, lamellar//ichthyoses, harlequin//ichthyoses, lamellar//ichthyosiform erythroderma, nonbullous congenital//ichthyosiforme, nonbullous erythroderma//ichthyosiformes, nonbullous erythroderma//ichthyosis congenita//ichthyosis congenita i//ichthyosis congenita ii//ichthyosis congenita iis//ichthyosis, harlequin//ichthyosis, lamellar, 1//li//lamellar exfoliation of newborn//lamellar ichthyose//lamellar ichthyoses//lamellar ichthyosis//lamellar ichthyosis, type 1//newborn desquamation//newborn desquamations//newborn lamellar exfoliation//newborn lamellar exfoliations//nonbullous congenital ichthyosiform erythroderma//nonbullous congenital lamellar ichthyosis//nonbullous erythroderma ichthyosiforme//nonbullous erythroderma ichthyosiformes//syndrome, collodion baby//syndrome, harlequin baby//syndromes, collodion baby//syndromes, harlequin baby	LIPN;ALOXE3;TGM1;SDR9C7;ABCA12;NIPAL4;SULT2B1;CYP4F22;ALOX12B	LIPN;ALOXE3;TGM1;SDR9C7;ABCA12;NIPAL4;SULT2B1;CYP4F22;ALOX12B	https://raresource.nih.gov/literature/disease/0010803	0010803	604777	313		D017490		lipase family member N;arachidonate lipoxygenase 3;transglutaminase 1;short chain dehydrogenase/reductase family 9C member 7;ATP binding cassette subfamily A member 12;NIPA like domain containing 4;sulfotransferase family 2B member 1;cytochrome P450 family 4 subfamily F member 22;arachidonate 12-lipoxygenase, 12R type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lamellar ichthyosis"	0	0	1657
MUTYH-related attenuated familial adenomatous polyposis	adenomas, multiple colorectal, autosomal recessive//autosomal recessive familial adenomatous polyposis//autosomal recessive multiple colorectal adenomas//colorectal adenomatous polyposis, autosomal recessive//fap2//map//map syndrome//mutyh-associated polyposis//mutyh-related afap//mutyh-related attenuated fap//mutyh-related attenuated familial polyposis coli//myh-associated polyposis//familial adenomatous polyposis 2//familial adenomatous polyposis 2; fap2//familial adenomatous polyposis, 2//familial adenomatous polyposis, 2; fap2//familial adenomatous polyposis, type 2	MUTYH	MUTYH	https://raresource.nih.gov/literature/disease/0010805	0010805	608456	247798				mutY DNA glycosylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MUTYH-related attenuated familial adenomatous polyposis"	0	0	1657
Female restricted epilepsy with intellectual disability	convulsive disorder and mental retardation//dee9//developmental and epileptic encephalopathy 9//efmr//eiee9//epilepsy, female-restricted, with mental retardation//epileptic encephalopathy, early infantile, 9//epilepsy and mental retardation limited to females//epilepsy, female restricted, with mental retardation//familial epilepsy and mental retardation limited to females//female restricted epilepsy with intellectual deficit//juberg-hellman syndrome//juberg hellman syndrome//pcdh19 early infantile epileptic encephalopathy//pcdh19-related x-linked female-limited epilepsy with mental retardation//pcdh19-related fle//pcdh19-related female-limited epilepsy//pcdh19-related infantile epileptic encephalopathy//developmental and epileptic encephalopathy, 9//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//epilepsy and intellectual disability limited to females//epilepsy, female restricted, with intellectual disability//epilepsy, female-restricted, with intellectual disability//epileptic encephalopathy, early infantile, 9; eiee9//epileptic encephalopathy, early infantile, type 9//familial epilepsy and intellectual disability limited to females//female restricted epilepsy with intellectual disability//female restricted epilepsy with mental retardation	PCDH19	PCDH19	https://raresource.nih.gov/literature/disease/0010806	0010806	300088	101039	C1848137			protocadherin 19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Female restricted epilepsy with intellectual disability"	0	0	29
Fatty acid hydroxylase-associated neurodegeneration	fahn//spg35//spastic paraplegia 35, autosomal recessive//fatty acid hydroxylase-associated neurodegeneration	FA2H	FA2H	https://raresource.nih.gov/literature/disease/0010810	0010810	612319	329308	C3668943			fatty acid 2-hydroxylase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Fatty acid hydroxylase-associated neurodegeneration"	0	0	27
Thyrotoxic periodic paralysis	hashitoxic periodic paralysis//tpp//thyrotoxic hypokalemic periodic paralysis//thyrotoxic periodic paralysis	CACNA1S;KCNJ18;GABRA3	CACNA1S;KCNJ18;GABRA3	https://raresource.nih.gov/literature/disease/0010814	0010814	613239	79102	C0268446			calcium voltage-gated channel subunit alpha1 S;potassium inwardly rectifying channel subfamily J member 18;gamma-aminobutyric acid type A receptor subunit alpha3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thyrotoxic periodic paralysis"	0	0	580
Autosomal dominant spastic paraplegia type 31	reep1 hereditary spastic paraplegia//spg31//spastic paraplegia 31//spastic paraplegia 31, autosomal dominant//autosomal dominant spastic paraplegia 31//autosomal dominant spastic paraplegia type 31//hereditary spastic paraplegia 31//hereditary spastic paraplegia caused by mutation in reep1//hereditary spastic paraplegia type 31//spastic paraplegia 31, autosomal dominant; spg31	REEP1	REEP1	https://raresource.nih.gov/literature/disease/0010817	0010817	610250	101011	C1853247			receptor accessory protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant spastic paraplegia type 31"	0	0	8
Combined malonic and methylmalonic acidemia	cmamma//cmamma - combined malonic and methylmalonic aciduria//combined malonic and methylmalonic aciduria//combined malonic and methylmalonic acidemia//combined malonic and methylmalonic aciduria; cmamma	ACSF3	ACSF3	https://raresource.nih.gov/literature/disease/0010818	0010818	614265	289504	C3280314			acyl-CoA synthetase family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined malonic and methylmalonic acidemia"	0	0	10
Obesity due to pro-opiomelanocortin deficiency	obairh//obesity, early-onset, with adrenal insufficiency and red hair//obesity, early-onset, adrenal insufficiency, and red hair//obesity, adrenal insufficiency, and red hair due to pomc deficiency//pomc deficiency//proopiomelanocortin deficiency//proopiomelanocortin deficiency syndrome//obesity due to pro-opiomelanocortin deficiency//obesity, early-onset, with adrenal insufficiency and red hair; obairh	POMC	POMC	https://raresource.nih.gov/literature/disease/0010823	0010823	609734	71526	C1857854			proopiomelanocortin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to pro-opiomelanocortin deficiency"	0	0	40
Cushing syndrome due to macronodular adrenal hyperplasia	acth-independent macronodular adrenal hyperplasia//acth-independent macronodular adrenocortical hyperplasia//acth-independent macronodular adrenal hyperplasia 1//acth-independent macronodular adrenal hyperplasia; aimah1//adrenocorticotropic hormone-independent macronodular adrenal hyperplasia//aimah//aimah1//acth-independent cushing syndrome//corticotropin-independent macronodular adrenal hyperplasia//cushing syndrome, adrenal, due to aimah//hypercortisolism due to macronodular adrenal hyperplasia//mmad//massive macronodular adrenocortical disease//primary bilateral macronodular adrenal hyperplasia//primary macronodular adrenal hyperplasia	ARMC5;GNAS	ARMC5;GNAS	https://raresource.nih.gov/literature/disease/0010824	0010824	219080	189427				armadillo repeat containing 5;GNAS complex locus	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cushing syndrome due to macronodular adrenal hyperplasia"	0	0	222
Hyperparathyroidism-jaw tumor syndrome	familial cystic parathyroid adenomatosis//familial primary hyperparathyroidism with multiple ossifying jaw fibromas//hpt-jt//hrpt2//hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas//hyperparathyroidism-jaw tumor syndrome, hereditary//hereditary hyperparathyroidism-jaw tumor syndrome//hyperparathyroidism 2//hyperparathyroidism-jaw tumor syndrome//parathyroid adenomatosis, familial cystic//hyperparathyroidism 2 with jaw tumors//hyperparathyroidism 2 with jaw tumors; hrpt2//hyperparathyroidism 2; hrpt2//hyperparathyroidism type 2//hyperparathyroidism-2	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-jaw tumor syndrome"	0	0	199
Familial normophosphatemic tumoral calcinosis	calcinosis, tumoral, with normophosphatemia//nftc//normophosphatemic familial tumoral calcinosis//familial normophosphatemic tumoral calcinosis//tumoral calcinosis, normophosphatemic, familial//tumoral calcinosis, normophosphatemic, familial; nftc	SAMD9	SAMD9	https://raresource.nih.gov/literature/disease/0010878	0010878	610455	306658	C1864861			sterile alpha motif domain containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial normophosphatemic tumoral calcinosis"	0	0	10
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	hypercalcemic tumoral calcinosis	GALNT3;FGF23;KL	GALNT3;FGF23;KL	https://raresource.nih.gov/literature/disease/0010879	0010879	617994	306661				polypeptide N-acetylgalactosaminyltransferase 3;fibroblast growth factor 23;klotho	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"	0	0	None
Osteofibrous dysplasia	cemental dysplasia, periapical//cementomas, familial multiple//gigantiform cementoma, familial//intracortical fibrous dysplasia//jaffe-campanacci syndrome//multiple ossifying fibroma//ofd//ossifying fibroma//hereditary ossifying fibroma (disease)	MET	MET	https://raresource.nih.gov/literature/disease/0010887	0010887	607278	488265				MET proto-oncogene, receptor tyrosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Osteofibrous dysplasia"	0	0	867
HANAC syndrome	autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures//autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome//col4a1-related disorders//hanac//hanac - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps//hanac syndrome//hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome//hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome//hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome//angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps//angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; hanac	COL4A1	COL4A1	https://raresource.nih.gov/literature/disease/0010889	0010889	611773	73229	C2673195			collagen type IV alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=HANAC syndrome"	0	0	32
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	ibmpfd//ibmpfd - inclusion body myopathy with early onset paget disease and frontotemporal dementia//ibmpfd1//inclusion body myopathy with early-onset paget disease of bone and-or frontotemporal dementia//inclusion body myopathy with paget disease of bone and-or frontotemporal dementia//inclusion body myopathy with paget disease of bone and/or frontotemporal dementia//inclusion body myopathy with early-onset paget disease and frontotemporal dementia//lower motor neuron degeneration with paget-like bone disease//limb-girdle muscular dystrophy with paget disease of bone//msp1//multisystem proteinopathy 1//muscular dystrophy, limb-girdle, with paget disease of bone//muscular dystrophy limb-girdle with paget disease of bone//pagetoid amyotrophic lateral sclerosis//pagetoid neuroskeletal syndrome//inclusion body myopathy with paget disease of bone and frontotemporal dementia//inclusion body myopathy with paget's disease of bone and frontotemporal dementia//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia//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 1; ibmpfd1//inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia type 1//inclusion body myopathy/paget disease/frontotemporal dementia	VCP;HNRNPA2B1;HNRNPA1	VCP;HNRNPA2B1;HNRNPA1	https://raresource.nih.gov/literature/disease/0010899	0010899	615422	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"	0	0	142
Hereditary diffuse gastric cancer	fdgc//familial diffuse cancer of stomach//familial diffuse gastric cancer//hdgc//hereditary diffuse cancer of stomach//hereditary diffuse gastric adenocarcinoma	CDH1;MAP3K6;CTNNA1	CDH1;MAP3K6;CTNNA1	https://raresource.nih.gov/literature/disease/0010900	0010900	137215	26106	C1708349			cadherin 1;mitogen-activated protein kinase kinase kinase 6;catenin alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary diffuse gastric cancer"	0	0	412
Dyskeratosis congenita	dc//dkc//zinsser-engman-cole syndrome	RTEL1;NPM1;DKC1;CTC1;USB1;NHP2;NOP10;TINF2;TERT;TERC;WRAP53;PARN	RTEL1;NPM1;DKC1;CTC1;USB1;NHP2;NOP10;TINF2;TERT;TERC;WRAP53;PARN	https://raresource.nih.gov/literature/disease/0010905	0010905	616353	1775	C0265965	D019871		regulator of telomere elongation helicase 1;nucleophosmin 1;dyskerin pseudouridine synthase 1;CST telomere replication complex component 1;U6 snRNA biogenesis phosphodiesterase 1;NHP2 ribonucleoprotein;NOP10 ribonucleoprotein;TERF1 interacting nuclear factor 2;telomerase reverse transcriptase;telomerase RNA component;WD repeat containing antisense to TP53;poly(A)-specific ribonuclease	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dyskeratosis congenita"	0	0	2235
Primary pigmented nodular adrenocortical disease	ppnad//primary pigmented nodular adrenal dysplasia//pigmented nodular adrenocortical disease//pigmented nodular adrenocortical disease, primary//primary pigmented nodular adrenocortical disease	PDE8B;PRKAR1A;PDE11A;PRKACA	PDE8B;PRKAR1A;PDE11A;PRKACA	https://raresource.nih.gov/literature/disease/0010906	0010906	610489	189439				phosphodiesterase 8B;protein kinase cAMP-dependent type I regulatory subunit alpha;phosphodiesterase 11A;protein kinase cAMP-activated catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary pigmented nodular adrenocortical disease"	0	0	257
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 immunodeficiency with magnesium defect, epstein-barr virus infection, and neoplasia//x-linked magnesium deficiency with epstein-barr virus infection and neoplasia//xmen//immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia; xmen	MAGT1	MAGT1	https://raresource.nih.gov/literature/disease/0010907	0010907	300853	317476				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"	0	0	26
Adult-onset foveomacular vitelliform dystrophy	aofmd//avmd//adult onset vitelliform macular dystrophy//adult vitelliform macular dystrophy//adult-onset foveomacular dystrophies//adult-onset foveomacular dystrophy//adult-onset foveomacular dystrophy with choroidal neovascularization//adult-onset vitelliform macular dystrophy//dystrophies, adult-onset foveomacular//dystrophy, adult-onset foveomacular//foveomacular dystrophy, adult-onset//foveomacular dystrophy, adult-onset, with or without choroidal neovascularization//foveomacular dystrophies, adult-onset//foveomacular dystrophy, adult onset//foveomacular dystrophy, adult-onset, with choroidal neovascularization//foveomacular dystrophy, adult-onset; aofmd//gass disease//macular dystrophy, vitelliform, adult-onset//prph2 vitelliform macular dystrophy//pseudo-best disease//pseudo-vitelliform macular dystrophy//vitelliform macular dystrophy, adult-onset//vmd3//vitelliform macular dystrophy, adult onset//adult-onset foveomacular vitelliform dystrophy//macular dystrophy, vitelliform, 3//macular dystrophy, vitelliform, 3; vmd3//macular dystrophy, vitelliform, type 3//vitelliform macular dystrophy caused by mutation in prph2	IMPG1;PRPH2;BEST1;IMPG2	IMPG1;PRPH2;BEST1;IMPG2	https://raresource.nih.gov/literature/disease/0010909	0010909	616151	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"	0	0	44
Familial avascular necrosis of femoral head	anfh//anfh1//anfh2//aseptic necrosis of femur head//avascular necrosis of femoral head, primary//avascular necrosis of femur head//femoral head, aseptic necrosis of//femoral head, avascular necrosis of//familial avascular necrosis of the femoral head//familial osteonecrosis of the femoral head//femur head necroses//head necrosis, femur//ischemic necrosis of femoral head//necrosis, aseptic, of femur head//necrosis, avascular, of femur head//necrosis, femur head//osteonecrosis of femoral head//primary avascular necrosis of the femoral head//aseptic necrosis of femoral head//aseptic necrosis of head of femur//avascular necrosis of femoral head, primary, 1//avascular necrosis of femoral head, primary, 1; anfh1//avascular necrosis of femoral head, primary; anfh//avascular necrosis of femoral head, primary, 2; anfh2//familial avascular necrosis of femoral head	TRPV4;COL2A1	TRPV4;COL2A1	https://raresource.nih.gov/literature/disease/0010914	0010914	608805	86820				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 femoral head"	0	0	560
X-linked lymphoproliferative disease due to XIAP deficiency	lymphoproliferative syndrome, x-linked, 2//x-linked lymphoproliferative syndrome 2//x-linked lymphoproliferative syndrome type 2//xiap deficiency//xiap deficiency syndrome//xiap deficiency/xlps//xiap-related lymphoproliferative disease, x-linked//xlp2//lymphoproliferative syndrome, x-linked, 2; xlp2//lymphoproliferative syndrome, x-linked, type 2	XIAP	XIAP	https://raresource.nih.gov/literature/disease/0010916	0010916	300635	538934				X-linked inhibitor of apoptosis	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked lymphoproliferative disease due to XIAP deficiency"	0	0	99
Hypomyelination with atrophy of basal ganglia and cerebellum	h-abc//h-abc - hypomyelination, atrophy of basal ganglia and cerebellum//habc//hld6//hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum//hypomyelination with atrophy of basal ganglia and cerebellum syndrome//leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum//leukodystrophy, hypomyelinating, 6//tubb4a-associated leukodystrophy//hypomyelinating leukodystrophy 6//hypomyelinating leukodystrophy type 6//hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum//hypomyelination with atrophy of basal ganglia and cerebellum//leukodystrophy, hypomyelinating, 6; hld6//leukodystrophy, hypomyelinating, type 6	UFM1;TUBB4A	UFM1;TUBB4A	https://raresource.nih.gov/literature/disease/0010917	0010917	612438	139441				ubiquitin fold modifier 1;tubulin beta 4A class IVa	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypomyelination with atrophy of basal ganglia and cerebellum"	0	0	39
Monocytopenia with susceptibility to infections	b and nk lymphoid deficiency//combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections//combined immunodeficiency with susceptibility to mycobacterial//combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection//combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections//dcml//dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency//dendritic cell//dendritic cell, monocyte, b and nk lymphoid deficiency//dentritic cell, monocyte, b and nk lymphoid deficiency//gata2 deficiency//gata2 deficiencies//gata2 haploinsufficiencies//gata2 haploinsufficiency//imd21//immunodeficiency 21//monocytopenia and mycobacterial infection syndrome//monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia//monomac//monomac syndrome//monomac syndromes//monocyte - b - natural killer - dendritic cell deficiency//monocyte-b natural killer dendritic cell deficiency syndrome//monocyte-b-natural killer-dendritic cell deficiency syndrome//immunodeficiency 21; imd21//immunodeficiency type 21//monocyte//monocytopenia with susceptibility to infections//viral and fungal infections	GATA2	GATA2	https://raresource.nih.gov/literature/disease/0010934	0010934	614172	228423				GATA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Monocytopenia with susceptibility to infections"	0	0	290
16q24.3 microdeletion syndrome	chromosome 16q24.3 microdeletion syndrome//del(16)(q24.3)//monosomy 16q24.3	ANKRD11	ANKRD11	https://raresource.nih.gov/literature/disease/0010935	0010935		261250				ankyrin repeat domain containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=16q24.3 microdeletion syndrome"	0	0	None
17q23.1q23.2 microdeletion syndrome	17q23.1-q23.2 microdeletion syndrome//chromosome 17q23.1-q23.2 deletion syndrome//del(17)(q23.1q23.2)//monosomy 17q23.1-q23.2//monosomy 17q23.1q23.2	TBX4	TBX4	https://raresource.nih.gov/literature/disease/0010936	0010936	613355	261279				T-box transcription factor 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=17q23.1q23.2 microdeletion syndrome"	0	0	None
Lipodystrophy, congenital generalized, type 4	berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy//bscl//bscl4//beradinelli-seip syndrome//berardinelli seip syndrome//berardinelli lipodystrophy syndrome//berardinelli-seip congenital lipodystrophy//berardinelli-seip congenital lipodystrophy type 4 with muscular dystrophy//berardinelli-seip syndrome//brunzell syndrome//brunzell syndrome agpat2-related//cavin1 congenital generalized lipodystrophy (disease)//cgl//cgl4//congenital generalized lipodystrophy type 4//diabete, lipoatrophic//diabetes mellitus, lipoatrophic//gcl//gcl4//generalized congenital lipodystrophy//generalized congenital lipodystrophy type 4//generalized congenital lipodystrophy with myopathy//lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy//lawrence-seip syndrome//lipoatrophic diabetes//lipodystrophic diabetes//seip-bernardinelli syndrome//berardinelli-seip congenital//congenital generalized lipodystrophy//congenital generalised lipodystrophy type 4//congenital generalized lipodystrophy (disease) caused by mutation in cavin1//diabetes, lipoatrophic//generalised congenital lipodystrophy type 4//generalised congenital lipodystrophy with myopathy//lipoatrophic diabete//lipoatrophic diabetes mellitus//lipodystrophy//lipodystrophy, congenital generalized, type 4//lipodystrophy, congenital generalized, type 4; cgl4//total lipodystrophy//type 4//with muscular dystrophy	CAVIN1	CAVIN1	https://raresource.nih.gov/literature/disease/0010937	0010937			C2750069			caveolae associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipodystrophy, congenital generalized, type 4"	0	0	4202
CLOVES syndrome	clove syndrome//cloves//cloves syndrome//congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, somatic//congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities//congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal-spinal abnormalities//congenital lipomatous overgrowth - vascular malformation - epidermal nevi//congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome//congenital lipomatous overgrowth, vascular malformations, and epidermal nevi//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				phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CLOVES syndrome"	0	0	120
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	mspka//megalocornea - spherophakia - secondary glaucoma//megalocornea-spherophakia-secondary glaucoma syndrome//microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma//glaucoma secondary to spherophakia/ectopia lentis and megalocornea	LTBP2	LTBP2	https://raresource.nih.gov/literature/disease/0010942	0010942	251750	238763				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"	0	0	None
1q44 microdeletion syndrome	chromosome 1q44 microdeletion syndrome//del(1)(q44)//monosomy 1q44	HNRNPU	HNRNPU	https://raresource.nih.gov/literature/disease/0010943	0010943		238769				heterogeneous nuclear ribonucleoprotein U	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=1q44 microdeletion syndrome"	0	0	1
COG6-CGD	cdg iil//cdg syndrome type iil//cdg-iil//cdg2l//cdgiidl//cdgiil//cog6-cdg (cdg-iil)//congenital disorder of glycosylation, type iil//congenital disorder of glycosylation type 2l//congenital disorder of glycosylation type iil//congenital disorder of glycosylation, type iil; cdg2l	COG6	COG6	https://raresource.nih.gov/literature/disease/0010944	0010944	614576	464443				component of oligomeric golgi complex 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG6-CGD"	0	0	None
Short stature-optic atrophy-Pelger-Huët anomaly syndrome	soph//soph syndrome//short stature with optic atrophy and pelger-huët anomaly syndrome//short stature, optic nerve atrophy, and pelger-huet anomaly//short stature, optic nerve atrophy, and pelger-huet anomaly; soph//short stature-optic atrophy-pelger-huc+t anomaly syndrome//short stature-optic atrophy-pelger-huët anomaly syndrome	NBAS	NBAS	https://raresource.nih.gov/literature/disease/0010945	0010945	614800	391677				NBAS subunit of NRZ tethering complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Short stature-optic atrophy-Pelger-Huët anomaly syndrome"	0	0	23
UV-sensitive syndrome	uv sensitive syndrome//uvss	UVSSA;ERCC8;ERCC6	UVSSA;ERCC8;ERCC6	https://raresource.nih.gov/literature/disease/0010947	0010947	614621	178338	C1833561			UV stimulated scaffold protein A;ERCC excision repair 8, CSA ubiquitin ligase complex subunit;ERCC excision repair 6, chromatin remodeling factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=UV-sensitive syndrome"	0	0	37
3-methylcrotonyl-CoA carboxylase deficiency	3 alpha methylcrotonylglycinuria 1//3 methylcrotonyl-coa carboxylase 1 deficiency//3 methylcrotonyl-coa carboxylase deficiency//3 methylcrotonylglycinuria//3-@methylcrotonyl-coa carboxylase 1 deficiency//3-mcc deficiency//3-methylcrotonyl-coa carboxylase 1 deficiency; mcc1d//3-methylcrotonylglycinuria i//3-methylcrotonyl-coa carboxylase deficiency//3-methylcrotonyl-coenzyme a carboxylase deficiency//3-methylcrotonylglycinuria//3-methylcrotonyl coa carboxylase 1 deficiency//3-methylcrotonyl-coa carboxylase 1 deficiency//3-methylcrotonyl-coa carboxylase deficiency caused by mutation in mccc1//3-methylcrotonylglycinuria 1//3mcc//3mcc deficiency//bmcc deficiency//deficiency of methylcrotonoyl-coa carboxylase//isolated 3-methylcrotonyl-coa carboxylase deficiency//mcc 1 deficiency//mcc deficiency//mcc1 deficiency//mcc1d//mccc1 3-methylcrotonyl-coa carboxylase deficiency//mccc1-related 3-methylcrotonyl-coa carboxylase deficiency//mccd//mccd type 1//methylcrotonylglycinuria type i//methylcrotonyl-coa carboxylase deficiency//beta-methylcrotonylglycinuria, type 1//methylcrotonoyl-coa carboxylase 1 deficiency//methylcrotonylglycinuria//methylcrotonylglycinuria type 1	MCCC1;MCCC2	MCCC1;MCCC2	https://raresource.nih.gov/literature/disease/0010954	0010954	210200	6	C0268600	C535308		methylcrotonyl-CoA carboxylase subunit 1;methylcrotonyl-CoA carboxylase subunit 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=3-methylcrotonyl-CoA carboxylase deficiency"	0	0	133
Noonan syndrome		SOS1;SOS2;RRAS;RIT1;CBL;RRAS2;RASA2;SPRED2;KRAS;RAF1;PTPN11;NRAS;MRAS;LZTR1	SOS1;SOS2;RRAS;RIT1;CBL;RRAS2;RASA2;SPRED2;KRAS;RAF1;PTPN11;NRAS;MRAS;LZTR1	https://raresource.nih.gov/literature/disease/0010955	0010955	163950	648	C0028326	D009634		SOS Ras/Rac guanine nucleotide exchange factor 1;SOS Ras/Rho guanine nucleotide exchange factor 2;RAS related;Ras like without CAAX 1;Cbl proto-oncogene;RAS related 2;RAS p21 protein activator 2;sprouty related EVH1 domain containing 2;KRAS proto-oncogene, GTPase;Raf-1 proto-oncogene, serine/threonine kinase;protein tyrosine phosphatase non-receptor type 11;NRAS proto-oncogene, GTPase;muscle RAS oncogene homolog;leucine zipper like transcription regulator 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Noonan syndrome"	0	0	1986
IRIDA syndrome	anemia, hypochromic microcytic, with defect in iron metabolism//irida//irida iron-refractory iron deficiency anemia//iron-handling disorder, hereditary//iron-refractory iron deficiency anemia//pseudo-iron-deficiency anemia//iron-refractory iron deficiency anemia; irida	TMPRSS6	TMPRSS6	https://raresource.nih.gov/literature/disease/0010957	0010957	206200	209981	C0085576			transmembrane serine protease 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IRIDA syndrome"	0	0	115
Familial isolated pituitary adenoma	acromegaly due to pituitary adenoma 1//fipa//fis//familial isolated pituitary adenoma syndrome//gh cell adenoma//growth hormone producing adenoma of the pituitary//ifs//isolated familial somatotropinoma//pagh1//pap//pita1//pituitary adenoma predisposition//pituitary adenoma, familial isolated//somatotrophinoma, familial//somatotropinoma, familial isolated//somatotroph adenoma//somatotrophinoma//somatotropinoma//growth hormone producing adenoma of pituitary//growth hormone producing adenoma of pituitary gland//growth hormone producing adenoma of the pituitary gland//growth hormone producing pituitary adenoma//growth hormone producing pituitary gland adenoma//growth hormone secreting adenoma of pituitary//growth hormone secreting adenoma of pituitary gland//growth hormone secreting adenoma of the pituitary//growth hormone secreting adenoma of the pituitary gland//growth hormone secreting pituitary adenoma//growth hormone secreting pituitary gland adenoma//growth hormone-producing adenoma//growth hormone-producing pituitary gland adenoma//pituitary adenoma 1, multiple types//pituitary adenoma 1, multiple types; pita1//pituitary adenoma, growth hormone-secreting, 1//pituitary adenoma, growth hormone-secreting, 1; pagh1//pituitary adenoma, growth hormone-secreting, type 1//somatotrope adenoma//somatotropic adenoma	AIP;CDH23	AIP;CDH23	https://raresource.nih.gov/literature/disease/0010959	0010959	102200	314777	C1863340			aryl hydrocarbon receptor interacting protein;cadherin related 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial isolated pituitary adenoma"	0	0	1738
FGFR2-related bent bone dysplasia	bbds//bent bone dysplasia (bbd)-fgfr2 type//bent bone dysplasia syndrome//perinatal lethal bent bone dysplasia//bent bone dysplasia syndrome; bbds	FGFR2	FGFR2	https://raresource.nih.gov/literature/disease/0010965	0010965	614592	313855				fibroblast growth factor receptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FGFR2-related bent bone dysplasia"	0	0	21
Systemic-onset juvenile idiopathic arthritis	arthritis (juvenile idiopathic)//arthritis, juvenile chronic//arthritis, juvenile enthesitis-related//arthritis, juvenile idiopathic//arthritis, juvenile psoriatic//arthritis, juvenile rheumatoid//arthritis, juvenile systemic//chronic arthritis, juvenile//enthesitis related arthritis, juvenile//enthesitis-related arthritis, juvenile//idiopathic arthritis, juvenile//jia//juvenile arthritis//juvenile chronic arthritis//juvenile enthesitis-related arthritis//juvenile idiopathic arthritis//juvenile oligoarthritis//juvenile onset still disease//juvenile onset stills disease//juvenile psoriatic arthritis//juvenile rheumatoid arthritis//juvenile systemic arthritis//juvenile chronic arthritis (disorder)//juvenile idiopathic arthritis (disorder)//juvenile rheumatoid a.//juvenile rheumatoid arthritis (disorder)//juvenile rheumatoid arthritis nos (disorder)//juvenile rheumatoid arthritis, nos//juvenile seropositive polyarthritis//juvenile-onset still disease//juvenile-onset still's disease//juvenile-onset stills disease//oligoarthritis, juvenile//pauciarticular onset juvenile chronic arthritis//polyarthritis, juvenile, rheumatoid factor negative//polyarthritis, juvenile, rheumatoid factor positive//psoriatic arthritis, juvenile//rheumatoid arthritis, juvenile//systemic juvenile rheumatoid arthritis//sojia//still disease, juvenile onset//still disease, juvenile-onset//still disease//still's disease, juvenile onset//still's disease, juvenile-onset//still's disease//still's disease (formerly)//still's disease nos//stills disease, juvenile-onset//systemic arthritis, juvenile//systemic juvenile idiopathic arthritis//systemic onset juvenile idiopathic arthritis//systemic onset juvenile rheumatoid arthritis//systemic polyarthritis//systemic-onset jia//acute juvenile rheumatoid arthritis//breast myoepithelial carcinoma//chronic childhood arthritis//juvenile chronic polyarthritis//monarticular juvenile rheumatoid arthritis//pauciarticular juvenile arthritis//rheumatoid arthritis, systemic juvenile//sjia//systemic-onset juvenile idiopathic arthritis	IL6;MIF;HLA-DRB1;LACC1	IL6;MIF;HLA-DRB1;LACC1	https://raresource.nih.gov/literature/disease/0010966	0010966	604302	85414	C0087031			interleukin 6;macrophage migration inhibitory factor;major histocompatibility complex, class II, DR beta 1;laccase domain containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Systemic-onset juvenile idiopathic arthritis"	0	0	13388
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	alsp//adult-onset leukodystrophy with neuroaxonal spheroids//adult-onset leukoencephalopathy with axonal spheroids and pigmented glia//autosomal dominant leukoencephalopathy with neuroaxonal spheroids//csf1r-related hereditary diffuse leukoencephalopathy with spheroids//dementia, familial, neumann type//fpsg//familial dementia//familial dementia, neumann type//familial progressive subcortical gliosis//gliosis, familial progressive subcortical//gpsc//hdls//hdls - hereditary diffuse leukoencephalopathy with spheroids//hereditary diffuse leukoencephalopathy with axonal spheroids//hereditary diffuse leukoencephalopathy with spheroids//leukoencephalopathy with neuroaxonal spheroids, autosomal dominant//leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia//leukoencephalopathy, diffuse hereditary, with spheroids//neumann type//neuroaxonal leukodystrophy//pold//pigmentary orthochromatic leukodystrophy//subcortical gliosis of neumann//hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia//leukoencephalopathy, diffuse hereditary, with spheroids; hdls//leukoencephalopathy, hereditary diffuse, with spheroids//leukoencephalopathy, hereditary diffuse, with spheroids; hdls	CSF1R;AARS2	CSF1R;AARS2	https://raresource.nih.gov/literature/disease/0010981	0010981	221820	313808	C3711381			colony stimulating factor 1 receptor;alanyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	0	0	251
Disseminated superficial actinic porokeratosis	dsap//dsap - disseminated superficial actinic porokeratosis//disseminated superficial actinic porokeratosis//porokeratosis, disseminated superficial actinic	MVK;MVD;SLC17A9;FDPS	MVK;MVD;SLC17A9;FDPS	https://raresource.nih.gov/literature/disease/0010983	0010983	612293	79152	C0265970			mevalonate kinase;mevalonate diphosphate decarboxylase;solute carrier family 17 member 9;farnesyl diphosphate synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Disseminated superficial actinic porokeratosis"	0	0	165
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	il-12râ1 deficiency//il12rb1 deficiency//il12rb1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency//imd30//msmd due to complete il12rb1 deficiency//msmd due to complete interleukin 12 receptor beta 1 deficiency//mendelian susceptibility to interleukin 12 receptor beta 1 deficiency//mendelian susceptibility to mycobacterial infections due to il12 deficiency//autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12rb1//immunodeficiency 30//immunodeficiency 30; imd30//immunodeficiency type 30//mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency	IL12RB1	IL12RB1	https://raresource.nih.gov/literature/disease/0010984	0010984	614891	319552				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"	0	0	681
Left ventricular noncompaction	dtna left ventricular noncompaction//left ventricular noncompaction 1 with or without congenital heart defects//lv non-compaction syndrome//lvnc//lvnc1//left ventricular non-compaction syndrome//left ventricular noncompaction, isolated, autosomal dominant//left ventricular hypertrabeculation//left ventricular non-compaction cardiomyopathy//left ventricular noncompaction (disorder)//left ventricular noncompaction cardiomyopathy//noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 1//spongy myocardium//left ventricular noncompaction//left ventricular noncompaction (disease)//left ventricular noncompaction 1//left ventricular noncompaction 1; lvnc1//left ventricular noncompaction caused by mutation in dtna//left ventricular noncompaction type 1	MYBPC3;TNNT2;TPM1;PRDM16;ACTC1;LDB3;MYH7B;MIB1;PLEKHM2;LMNA;MIB2;DTNA;MYH7;PKP2	MYBPC3;TNNT2;TPM1;PRDM16;ACTC1;LDB3;MYH7B;MIB1;PLEKHM2;LMNA;MIB2;DTNA;MYH7;PKP2	https://raresource.nih.gov/literature/disease/0010985	0010985	615396	54260	C1960469			myosin binding protein C3;troponin T2, cardiac type;tropomyosin 1;PR/SET domain 16;actin alpha cardiac muscle 1;LIM domain binding 3;myosin heavy chain 7B;MIB E3 ubiquitin protein ligase 1;pleckstrin homology and RUN domain containing M2;lamin A/C;MIB E3 ubiquitin protein ligase 2;dystrobrevin alpha;myosin heavy chain 7;plakophilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Left ventricular noncompaction"	0	0	1331
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	mdp syndrome//mdpl//mdpl syndrome//mandibular hypoplasia, deafness, progeroid features//mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome//mandibular hypoplasia-deafness-progeroid syndrome//mandibular hypoplasia-hearing loss-progeroid syndrome//mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; mdpl	POLD1	POLD1	https://raresource.nih.gov/literature/disease/0010989	0010989	615381	363649				DNA polymerase delta 1, catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"	0	0	19
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	autosomal recessive spastic ataxia - optic atrophy - dysarthria//autosomal recessive spastic ataxia 4//autosomal recessive spastic ataxia type 4//mtpap autosomal recessive spastic ataxia//spax4//spastic ataxia 4//spastic ataxia 4, autosomal recessive//autosomal recessive spastic ataxia caused by mutation in mtpap//autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome//spastic ataxia 4, autosomal recessive; spax4//spastic ataxia type 4	MTPAP	MTPAP	https://raresource.nih.gov/literature/disease/0010992	0010992	613672	254343				mitochondrial poly(A) polymerase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"	0	0	1
Genitopatellar syndrome	absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation//absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual disability//absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome//genitopatellar syndrome; gtpts//gtpts//kat6b-related disorders//absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and intellectual disability//genitopatellar syndrome	KAT6B	KAT6B	https://raresource.nih.gov/literature/disease/0010994	0010994	606170	85201	C1853566			lysine acetyltransferase 6B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Genitopatellar syndrome"	0	0	42
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	postnatal progressive microcephaly, seizures, and brain atrophy//infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly//microcephaly, postnatal progressive, with seizures and brain atrophy	MED17	MED17	https://raresource.nih.gov/literature/disease/0010995	0010995	613668	402364				mediator complex subunit 17	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	0	0	None
Aneurysm-osteoarthritis syndrome	aneurysms-osteoarthritis syndrome//aos//aneurysm - osteoarthritis syndrome//lds1c//lds1c, formerly//lds3//loeys-dietz syndrome with osteoarthritis//loeys-dietz syndrome, type 1c, formerly//loeys-dietz syndrome 3//loeys-dietz syndrome 3; lds3//loeys-dietz syndrome type 1c//loeys-dietz syndrome type 3//loeys-dietz syndrome, type 1c//loeys-dietz syndrome, type 1c (formerly)//loeys-dietz syndrome, type 3//smad3-related loeys-dietz syndrome//smad3-related thoracic aortic aneurysms and aortic dissections//aneurysm-osteoarthritis syndrome	SMAD3	SMAD3	https://raresource.nih.gov/literature/disease/0010997	0010997	613795	284984				SMAD family member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aneurysm-osteoarthritis syndrome"	0	0	458
2q23.1 microdeletion syndrome	chromosome 2q23.1 microdeletion syndrome//del(2)(q23.1)//monosomy 2q23.1//pseudo-angelman syndrome	MBD5	MBD5	https://raresource.nih.gov/literature/disease/0010998	0010998	156200	228402				methyl-CpG binding domain protein 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=2q23.1 microdeletion syndrome"	0	0	4
Severe intellectual disability and progressive spastic paraplegia	ap4 deficiency syndrome//ap4e1 hereditary spastic paraplegia//autosomal recessive spastic paraplegia 51//cerebral palsy, spastic quadriplegic, 4, formerly//cpsq4//cpsq4 (formerly)//cpsq4, formerly//cerebral palsy, spastic quadriplegic, 4//cerebral palsy, spastic quadriplegic, 4 (formerly)//spg51//spastic paraplegia 51//autosomal dominant spastic paraplegia 51//hereditary spastic paraplegia 51//hereditary spastic paraplegia caused by mutation in ap4e1//hereditary spastic paraplegia type 51//spastic paraplegia 51, autosomal recessive//spastic paraplegia 51, autosomal recessive; spg51//spastic quadriplegic cerebral palsy 4	AP4B1;AP4S1;AP4M1;AP4E1	AP4B1;AP4S1;AP4M1;AP4E1	https://raresource.nih.gov/literature/disease/0010999	0010999	613744	280763				adaptor related protein complex 4 subunit beta 1;adaptor related protein complex 4 subunit sigma 1;adaptor related protein complex 4 subunit mu 1;adaptor related protein complex 4 subunit epsilon 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability and progressive spastic paraplegia"	0	0	4
Constitutional megaloblastic anemia with severe neurologic disease	dhfr deficiency//dihydrofolate reductase deficiency//megaloblastic anemia due to dihydrofolate reductase deficiency//constitutional megaloblastic anemia with severe neurologic disease	DHFR	DHFR	https://raresource.nih.gov/literature/disease/0011000	0011000	613839	319651	C3151205			dihydrofolate reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Constitutional megaloblastic anemia with severe neurologic disease"	0	0	13
Karyomegalic interstitial nephritis	fan1 interstitial nephritis//kin//kin - karyomegalic interstitial nephritis//kmin//systemic karyomegaly//interstitial nephritis caused by mutation in fan1//interstitial nephritis, karyomegalic//interstitial nephritis, karyomegalic; kmin//karyomegalic interstitial nephritis	FAN1	FAN1	https://raresource.nih.gov/literature/disease/0011003	0011003	614817	401996				FANCD2 and FANCI associated nuclease 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Karyomegalic interstitial nephritis"	0	0	65
Nestor-Guillermo progeria syndrome	ngps//ngps - nestor guillermo progeria syndrome//nestor guillermo progeria syndrome//nestor-guillermo progeria syndrome; ngps//nestor-guillermo progeria syndrome//progeria syndrome, childhood-onset, with osteolysis//pscoo	BANF1	BANF1	https://raresource.nih.gov/literature/disease/0011008	0011008	614008	280576				BAF nuclear assembly factor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Nestor-Guillermo progeria syndrome"	0	0	14
Chondrodysplasia with joint dislocations, gPAPP type	chondrodysplasia with joint dislocations, grapp type//chondrodysplasia with joint dislocations gpapp type//chondrodysplasia with joint dislocations, gpapp type//gpapp deficiency	BPNT2	BPNT2	https://raresource.nih.gov/literature/disease/0011009	0011009	614078	280586				3'(2'), 5'-bisphosphate nucleotidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chondrodysplasia with joint dislocations, gPAPP type"	0	0	2
Hereditary sensorimotor neuropathy with hyperelastic skin	hereditary sensorimotor neuropathy with hyperelastic skin	FBLN5	FBLN5	https://raresource.nih.gov/literature/disease/0011010	0011010	608895	280598				fibulin 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensorimotor neuropathy with hyperelastic skin"	0	0	None
Pulmonary alveolar microlithiasis	alveolar microlithiasis//pam - pulmonary alveolar microlithiasis//pulam//pulmonary alveolar microlithiasis	SLC34A2	SLC34A2	https://raresource.nih.gov/literature/disease/0011894	0011894	265100	60025	C0155912			solute carrier family 34 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pulmonary alveolar microlithiasis"	0	0	483
Progressive cone dystrophy	cone dystrophies//cone dystrophy//dystrophies, cone//dystrophy, cone//progressive cone degeneration//progressive cone dystrophy (without rod involvement)//retinal cone dystrophy	GNAT2;CNGB3;GUCA1A;PDE6C	GNAT2;CNGB3;GUCA1A;PDE6C	https://raresource.nih.gov/literature/disease/0011897	0011897	613093	1871	C0271092			G protein subunit alpha transducin 2;cyclic nucleotide gated channel subunit beta 3;guanylate cyclase activator 1A;phosphodiesterase 6C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Progressive cone dystrophy"	0	0	418
Juvenile amyotrophic lateral sclerosis	amyotrophic lateral sclerosis, juvenile//jals//jals - juvenile amyotrophic lateral sclerosis//juvenile charcot disease//juvenile lou gehrig disease//juvenile amyotrophic lateral sclerosis	SPG11;ALS2;SIGMAR1;FUS;SPTLC1	SPG11;ALS2;SIGMAR1;FUS;SPTLC1	https://raresource.nih.gov/literature/disease/0011901	0011901	602099	300605				SPG11 vesicle trafficking associated, spatacsin;alsin Rho guanine nucleotide exchange factor ALS2;sigma non-opioid intracellular receptor 1;FUS RNA binding protein;serine palmitoyltransferase long chain base subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Juvenile amyotrophic lateral sclerosis"	0	0	57
Capillary malformation-arteriovenous malformation	cm-avm	RASA1;EPHB4	RASA1;EPHB4	https://raresource.nih.gov/literature/disease/0011904	0011904	608354	137667	C1842180			RAS p21 protein activator 1;EPH receptor B4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Capillary malformation-arteriovenous malformation"	0	0	77
Atypical Werner syndrome	atypical progeroid syndrome//atypical werner syndrome//lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0011910	0011910		79474				lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Atypical Werner syndrome"	0	0	37
Deafness-infertility syndrome	chromosome 15q15.3 deletion syndrome//deafness, sensorineural, and male infertility//dis//deafness-infertility syndrome//hearing loss-infertility syndrome//sensorineural deafness and male infertility//deafness-infertility syndrome; dis	STRC;CATSPER2	STRC;CATSPER2	https://raresource.nih.gov/literature/disease/0011911	0011911	611102	94064	C1970187			stereocilin;cation channel sperm associated 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness-infertility syndrome"	0	0	195
Cap myopathy	cap disease//congenital myopathy with caps//cap myopathy	TPM2;MYPN;TPM3	TPM2;MYPN;TPM3	https://raresource.nih.gov/literature/disease/0011915	0011915	609284	171881	C3710589			tropomyosin 2;myopalladin;tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cap myopathy"	0	0	47
Autosomal dominant nocturnal frontal lobe epilepsy	adnfle//adnfle - autosomal dominant nocturnal frontal lobe epilepsy//autosomal dominant sleep-related hypermotor epilepsy//enfl//enfl1//epilepsy, nocturnal frontal lobe, 1//autosomal dominant nocturnal frontal lobe epilepsy	KCNT1;DEPDC5;CHRNA2;CABP4;CRH;CHRNB2;CHRNA4	KCNT1;DEPDC5;CHRNA2;CABP4;CRH;CHRNB2;CHRNA4	https://raresource.nih.gov/literature/disease/0011918	0011918	600513	98784	C3696898			potassium sodium-activated channel subfamily T member 1;DEP domain containing 5, GATOR1 subcomplex subunit;cholinergic receptor nicotinic alpha 2 subunit;calcium binding protein 4;corticotropin releasing hormone;cholinergic receptor nicotinic beta 2 subunit;cholinergic receptor nicotinic alpha 4 subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant nocturnal frontal lobe epilepsy"	0	0	243
X-linked centronuclear myopathy	cnmx//centronuclear myopathies, x-linked//mtm//mtm1//mtmx//myotubular myopathy 1//myotubular myopathy, x-linked//myopathies, x-linked centronuclear//myopathies, x-linked myotubular//myopathy, x-linked centronuclear//myopathy, x-linked myotubular//myotubular myopathies, x-linked//myotubular myopathy, x linked//myotubular myopathy//severe x-linked myotubular myopathy//x linked centronuclear myopathy//x linked myotubular myopathy//x-linked centronuclear myopathies//x-linked myotubular myopathies//x-linked myotubular myopathy//xlcnm//xlmtm//centronuclear myopathy, x-linked//myopathy, centronuclear, x-linked//myopathy, centronuclear, x-linked; cnmx	MTM1	MTM1	https://raresource.nih.gov/literature/disease/0011925	0011925	310400	596	C0410203	C538647		myotubularin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked centronuclear myopathy"	0	0	540
Hereditary sensory neuropathy-deafness-dementia syndrome	dnmt1-related dementia, deafness, and sensory neuropathy//hsan1e//hsn 1e//hsn ie//hsn1e//hsnie//hereditary sensory neuropathy type ie//hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss//hereditary sensory and autonomic neuropathy type ie//hereditary sensory and autonomic neuropathy type 1e//hereditary sensory autonomic neuropathy type ie//hereditary sensory neuropathy with hearing loss and dementia//hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome//neuropathy, hereditary sensory, with hearing loss and dementia//hereditary sensory neuropathy type 1e//hereditary sensory neuropathy-deafness-dementia syndrome//neuropathy, hereditary sensory, type 1e//neuropathy, hereditary sensory, type ie//neuropathy, hereditary sensory, type ie; hsn1e	DNMT1	DNMT1	https://raresource.nih.gov/literature/disease/0011927	0011927	614116	456318				DNA methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory neuropathy-deafness-dementia syndrome"	0	0	17
Activated PI3K-delta syndrome	apd syndrome//apds//apds (activated pi3k-delta syndrome)//activated pi3k-delta syndrome//activated phosphoinositide 3-kinase δ syndrome//imd14//imd14a//immunodeficiency 14a, autosomal dominant//palsi//pasli//pasli disease//senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation//immunodeficiency 14//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//p110-delta-activating mutation causing senescent t cells, lymphadenopathy and immunodeficiency//p110delta-activating mutation causing senescent t-cells, , lymphadenopathy and immunodeficiency	PIK3CD;PTEN;PIK3R1	PIK3CD;PTEN;PIK3R1	https://raresource.nih.gov/literature/disease/0011983	0011983	615513	397596	C3714976			phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta;phosphatase and tensin homolog;phosphoinositide-3-kinase regulatory subunit 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Activated PI3K-delta syndrome"	0	0	224
Hereditary pheochromocytoma-paraganglioma	familial paraganglioma-pheochromocytoma syndrome//familial pheochromocytoma-paraganglioma//hereditary paraganglioma-pheochromocytoma syndrome//hereditary paragangliomas and pheochromocytomas//hereditary paraganglioma-pheochromocytoma//pgl-pcc//sdhx-related syndromes//sdhx-related paraganglioma-pheochromocytoma//hereditary pheochromocytoma-paraganglioma	NF1;TMEM127;MAX;KIF1B;SDHAF2;SDHA;SDHB;SDHC;DLST;FH;VHL;SLC25A11;SDHD;MDH2;RET	NF1;TMEM127;MAX;KIF1B;SDHAF2;SDHA;SDHB;SDHC;DLST;FH;VHL;SLC25A11;SDHD;MDH2;RET	https://raresource.nih.gov/literature/disease/0011984	0011984	168000	29072				neurofibromin 1;transmembrane protein 127;MYC associated factor X;kinesin family member 1B;succinate dehydrogenase complex assembly factor 2;succinate dehydrogenase complex flavoprotein subunit A;succinate dehydrogenase complex iron sulfur subunit B;succinate dehydrogenase complex subunit C;dihydrolipoamide S-succinyltransferase;fumarate hydratase;von Hippel-Lindau tumor suppressor;solute carrier family 25 member 11;succinate dehydrogenase complex subunit D;malate dehydrogenase 2;ret proto-oncogene	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary pheochromocytoma-paraganglioma"	0	0	33
Differentiated thyroid carcinoma	cancer, papillary thyroid//cancers, papillary thyroid//carcinoma, papillary thyroid//carcinomas, papillary thyroid//familial nonmedullary thyroid cancer, papillary//familial papillary thyroid carcinoma//nonmedullary thyroid carcinoma, papillary//pact//ptc//ptc - papillary thyroid carcinoma//papillary thyroid cancers//papillary thyroid carcinomas//papillary carcinoma of the thyroid gland//papillary carcinoma of thyroid//papillary or follicular thyroid carcinoma//papillary thyroid carcinoma//tpc//thyroid cancers, papillary//thyroid carcinoma, papillary//thyroid carcinomas, papillary//thyroid cancer, papillary//thyroid carcinoma, papillary, somatic//thyroid papillary carcinoma//well-differentiated thyroid carcinoma//papillary cancer of the thyroid//papillary cancer of the thyroid gland//papillary cancer of thyroid//papillary cancer of thyroid gland//papillary carcinoma of the thyroid//papillary carcinoma of thyroid gland//papillary thyroid cancer//papillary thyroid gland carcinoma//thyroid gland papillary cancer//thyroid gland papillary carcinoma	DIRC3;NDUFA13;TPR;TRIM33;EIF1AX;ETV6;FOXE1;ALK;GOLGA5;LPAR4;HRAS;KRAS;NCOA4;NRAS;NTRK1;NTRK3;PAX8;PCM1;PPARG;RET;TRIM27;CCDC6;ERC1;BRAF;TERT;TFG;TRIM24;NKX2-1;GAS8-AS1	DIRC3;NDUFA13;TPR;TRIM33;EIF1AX;ETV6;FOXE1;ALK;GOLGA5;LPAR4;HRAS;KRAS;NCOA4;NRAS;NTRK1;NTRK3;PAX8;PCM1;PPARG;RET;TRIM27;CCDC6;ERC1;BRAF;TERT;TFG;TRIM24;NKX2-1;GAS8-AS1	https://raresource.nih.gov/literature/disease/0012027	0012027	607464	146	C0238463			disrupted in renal carcinoma 3;NADH:ubiquinone oxidoreductase subunit A13;translocated promoter region, nuclear basket protein;tripartite motif containing 33;eukaryotic translation initiation factor 1A X-linked;ETS variant transcription factor 6;forkhead box E1;ALK receptor tyrosine kinase;golgin A5;lysophosphatidic acid receptor 4;HRas proto-oncogene, GTPase;KRAS proto-oncogene, GTPase;nuclear receptor coactivator 4;NRAS proto-oncogene, GTPase;neurotrophic receptor tyrosine kinase 1;neurotrophic receptor tyrosine kinase 3;paired box 8;pericentriolar material 1;peroxisome proliferator activated receptor gamma;ret proto-oncogene;tripartite motif containing 27;coiled-coil domain containing 6;ELKS/RAB6-interacting/CAST family member 1;B-Raf proto-oncogene, serine/threonine kinase;telomerase reverse transcriptase;trafficking from ER to golgi regulator;tripartite motif containing 24;NK2 homeobox 1;GAS8 antisense RNA 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Differentiated thyroid carcinoma"	0	0	19369
GM3 synthase deficiency	amish infantile epilepsy syndrome//epilepsy syndrome, infantile-onset symptomatic//gm3 synthase deficiency//ganglioside gm3 synthase deficiency//infantile-onset symptomatic epilepsy syndrome//infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness//salt and pepper mental retardation syndrome//spdrs//st3gal5-cdg//salt and pepper developmental regression syndrome//salt and pepper syndrome//disorder of lactosylceramide alpha-2,3-sialyltransferase activity//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; spdrs//salt-and-pepper syndrome	ST3GAL5	ST3GAL5	https://raresource.nih.gov/literature/disease/0012059	0012059	609056	370933				ST3 beta-galactoside alpha-2,3-sialyltransferase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=GM3 synthase deficiency"	0	0	29
Cholesteryl ester storage disease	cesd//cesd - cholesterol ester storage disease//cholesterol ester hydrolase deficiency//cholesterol ester storage disease//cholesteryl ester storage disease	LIPA	LIPA	https://raresource.nih.gov/literature/disease/0012099	0012099	278000	75234	C0008384			lipase A, lysosomal acid type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cholesteryl ester storage disease"	0	0	243
Autosomal dominant non-syndromic intellectual disability	autosomal dominant mental retardation//autosomal dominant non-syndromic intellectual disability//autosomal dominant non-syndromic mental retardation//non-syndromic intellectual disability, autosomal dominant	CAMK2A;CAMK2B;DEAF1;MED12L;ZMYND11;CDH15;TRPM3;KDM5B;ASH1L;CSNK2B;CUX1;KIRREL3;CLTC;MBD5;PRICKLE2;CHAMP1;DOCK8;DLL1;SET;BRSK2;SYNGAP1;TCF4;CACNA1I;CACNG2;CIC;SETD1B;TAOK1;DYNC1H1;EEF1A2;EPB41L1;ERBB4;GRIN1;GRIN2B;RAB11A;PPP3CA;KIF1A;NBEA;MYT1L;KCNQ5;KCNQ2;HIVEP2;ITSN1	CAMK2A;CAMK2B;DEAF1;MED12L;ZMYND11;CDH15;TRPM3;KDM5B;ASH1L;CSNK2B;CUX1;KIRREL3;CLTC;MBD5;PRICKLE2;CHAMP1;DOCK8;DLL1;SET;BRSK2;SYNGAP1;TCF4;CACNA1I;CACNG2;CIC;SETD1B;TAOK1;DYNC1H1;EEF1A2;EPB41L1;ERBB4;GRIN1;GRIN2B;RAB11A;PPP3CA;KIF1A;NBEA;MYT1L;KCNQ5;KCNQ2;HIVEP2;ITSN1	https://raresource.nih.gov/literature/disease/0012107	0012107	612581	178469				calcium/calmodulin dependent protein kinase II alpha;calcium/calmodulin dependent protein kinase II beta;DEAF1 transcription factor;mediator complex subunit 12L;zinc finger MYND-type containing 11;cadherin 15;transient receptor potential cation channel subfamily M member 3;lysine demethylase 5B;ASH1 like histone lysine methyltransferase;casein kinase 2 beta;cut like homeobox 1;kirre like nephrin family adhesion molecule 3;clathrin heavy chain;methyl-CpG binding domain protein 5;prickle planar cell polarity protein 2;chromosome alignment maintaining phosphoprotein 1;dedicator of cytokinesis 8;delta like canonical Notch ligand 1;SET nuclear proto-oncogene;BR serine/threonine kinase 2;synaptic Ras GTPase activating protein 1;transcription factor 4;calcium voltage-gated channel subunit alpha1 I;calcium voltage-gated channel auxiliary subunit gamma 2;capicua transcriptional repressor;SET domain containing 1B, histone lysine methyltransferase;TAO kinase 1;dynein cytoplasmic 1 heavy chain 1;eukaryotic translation elongation factor 1 alpha 2;erythrocyte membrane protein band 4.1 like 1;erb-b2 receptor tyrosine kinase 4;glutamate ionotropic receptor NMDA type subunit 1;glutamate ionotropic receptor NMDA type subunit 2B;RAB11A, member RAS oncogene family;protein phosphatase 3 catalytic subunit alpha;kinesin family member 1A;neurobeachin;myelin transcription factor 1 like;potassium voltage-gated channel subfamily Q member 5;potassium voltage-gated channel subfamily Q member 2;HIVEP zinc finger 2;intersectin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant non-syndromic intellectual disability"	0	0	12
Trichothiodystrophy		MPLKIP;GTF2H5;ERCC2;RNF113A;TARS1;GTF2E2;ERCC3	MPLKIP;GTF2H5;ERCC2;RNF113A;TARS1;GTF2E2;ERCC3	https://raresource.nih.gov/literature/disease/0012109	0012109	618546	33364	C1955934	C536559		M-phase specific PLK1 interacting protein;general transcription factor IIH subunit 5;ERCC excision repair 2, TFIIH core complex helicase subunit;ring finger protein 113A;threonyl-tRNA synthetase 1;general transcription factor IIE subunit 2;ERCC excision repair 3, TFIIH core complex helicase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Trichothiodystrophy"	0	0	433
Autosomal recessive primary microcephaly	mcph//mcph syndrome//mcph1//mcph1 autosomal recessive primary microcephaly//microcephalia vera//microcephaly primary hereditary//microcephaly vera//microcephaly, primary autosomal recessive, 1//pcc syndrome//premature chromosome condensation syndrome//premature chromosome condensation with microcephaly and mental retardation//primary autosomal recessive microcephaly//true microcephaly//autosomal recessive primary microcephaly//autosomal recessive primary microcephaly caused by mutation in mcph1//microcephaly 1, primary, autosomal recessive//microcephaly 1, primary, autosomal recessive; mcph1//microcephaly, primary autosomal recessive//microcephaly, primary, autosomal recessive//premature chromosome condensation with microcephaly and intellectual disability	WDR62;KNL1;COPB2;CIT;KIF14;PHC1;CDK5RAP2;CDK6;CENPJ;TAF13;STIL;TRAPPC14;CEP63;MFSD2A;NCAPD3;CEP135;ANKLE2;METTL5;SASS6;MCPH1;ASPM;CEP152;PYCR2	WDR62;KNL1;COPB2;CIT;KIF14;PHC1;CDK5RAP2;CDK6;CENPJ;TAF13;STIL;TRAPPC14;CEP63;MFSD2A;NCAPD3;CEP135;ANKLE2;METTL5;SASS6;MCPH1;ASPM;CEP152;PYCR2	https://raresource.nih.gov/literature/disease/0012117	0012117	608716	2512	C3711387			WD repeat domain 62;kinetochore scaffold 1;COPI coat complex subunit beta 2;citron rho-interacting serine/threonine kinase;kinesin family member 14;polyhomeotic homolog 1;CDK5 regulatory subunit associated protein 2;cyclin dependent kinase 6;centromere protein J;TATA-box binding protein associated factor 13;STIL centriolar assembly protein;trafficking protein particle complex subunit 14;centrosomal protein 63;MFSD2 lysolipid transporter A, lysophospholipid;non-SMC condensin II complex subunit D3;centrosomal protein 135;ankyrin repeat and LEM domain containing 2;methyltransferase 5, N6-adenosine;SAS-6 centriolar assembly protein;microcephalin 1;assembly factor for spindle microtubules;centrosomal protein 152;pyrroline-5-carboxylate reductase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive primary microcephaly"	0	0	253
Reducing body myopathy	reducing-body myopathy//reducing body myopathy	FHL1	FHL1	https://raresource.nih.gov/literature/disease/0012162	0012162	300718	97239	C0270970			four and a half LIM domains 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Reducing body myopathy"	0	0	53
Brain-lung-thyroid syndrome	blt syndrome//brain-lung-thyroid syndrome//cahtp//choreoathetosis - hypothyroidism - neonatal respiratory distress//choreoathetosis and congenital hypothyroidism//choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction//choreoathetosis-hypothyroidism-neonatal respiratory distress//choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome//choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; cahtp	NKX2-1	NKX2-1	https://raresource.nih.gov/literature/disease/0012163	0012163	610978	209905	C1970269			NK2 homeobox 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain-lung-thyroid syndrome"	0	0	41
5q14.3 microdeletion syndrome	5q14.3 deletion syndrome//5q14.3 microdeletion syndrome //autosomal dominant intellectual disability 20//chromosome 5q14.3 deletion syndrome//del(5)(q14.3)//mental retardation, autosomal dominant 20//monosomy 5q14.3	MEF2C	MEF2C	https://raresource.nih.gov/literature/disease/0012166	0012166	613443	228384				myocyte enhancer factor 2C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=5q14.3 microdeletion syndrome"	0	0	8
CDKL5-deficiency disorder	cdd//cdkl5//cdkl5 deficiency//cdkl5 deficiency disorder//cdkl5 disorder//cdkl5 inherited genetic disease//cdkl5-related disorder//early infantile epileptic encephalopathy-2//x-linked dominant infantile spasm syndrome-2//inherited genetic disease caused by mutation in cdkl5	CDKL5	CDKL5	https://raresource.nih.gov/literature/disease/0012173	0012173	300672	505652				cyclin dependent kinase like 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CDKL5-deficiency disorder"	0	0	448
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	emardd//early-onset myopathy, areflexia, respiratory distress and dysphagia//megf10 myopathy//megf10-related myopathy//myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant//myopathy, areflexia, respiratory distress, and dysphagia, early-onset//early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome//myopathy, areflexia, respiratory distress, and dysphagia, early-onset; emardd	MEGF10	MEGF10	https://raresource.nih.gov/literature/disease/0012199	0012199	614399	439212				multiple EGF like domains 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"	0	0	16
15q24 microdeletion syndrome	15q24 deletion//15q24 microdeletion syndrome//chromosome 15q24 deletion syndrome//chromosome 15q24 duplication syndrome//del(15)(q24)//interstitial deletion of chromosome 15q24//monosomy 15q24//witkos//witteveen-kolk syndrome//witteveen-kolk syndrome; witkos	SIN3A	SIN3A	https://raresource.nih.gov/literature/disease/0012219	0012219	613406	94065	C3697269			SIN3 transcription regulator family member A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=15q24 microdeletion syndrome"	0	0	24
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	autosomal recessive spinocerebellar ataxia type 7//childhood onset autosomal recessive slowly progressive spinocerebellar ataxia//scar7//scar7 spinocerebellar ataxia autosomal recessive 7//spinocerebellar ataxia autosomal recessive 7//autosomal recessive spinocerebellar ataxia 7//childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia//spinocerebellar ataxia, autosomal recessive 7//spinocerebellar ataxia, autosomal recessive 7; scar7//spinocerebellar ataxia, autosomal recessive type 7	TPP1	TPP1	https://raresource.nih.gov/literature/disease/0012232	0012232	609270	284324	C1836474			tripeptidyl peptidase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"	0	0	3
Autosomal recessive ataxia, Beauce type	arca1//arca1 autosomal recessive cerebellar ataxia 1//ataxia, recessive, of beauce//autosomal recessive cerebellar ataxia type 1//autosomal recessive spinocerebellar ataxia 8//autosomal recessive ataxia beauce type//cerebellar ataxia, autosomal recessive, type 1//recessive ataxia of beauce//scar8//scar8 spinocerebellar ataxia, autosomal recessive 8//syne1-related autosomal recessive cerebellar ataxia//spinocerebellar ataxia autosomal recessive 8//autosomal recessive ataxia, beauce type//spinocerebellar ataxia, autosomal recessive 8//spinocerebellar ataxia, autosomal recessive 8; scar8//spinocerebellar ataxia, autosomal recessive type 8	SYNE1	SYNE1	https://raresource.nih.gov/literature/disease/0012234	0012234	610743	88644	C3683483			spectrin repeat containing nuclear envelope protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive ataxia, Beauce type"	0	0	16
Familial lipoprotein lipase deficiency	anapolipoproteinemia, c-ii//anapolipoproteinemias, c-ii//apolipoprotein c ii deficiency//apolipoprotein c-ii deficiencies//apolipoprotein c-ii deficiency//burger grutz syndrome//burger-grutz syndrome//burger-grutz syndromes//c-ii anapolipoproteinemia//c-ii anapolipoproteinemias//chylomicronemia, familial//chylomicronemias, familial//deficiencies, apolipoprotein c-ii//deficiencies, familial lpl//deficiencies, lipd//deficiencies, lipase d//deficiencies, lipoprotein lipase//deficiency, apolipoprotein c-ii//deficiency, familial lpl//deficiency, lipd//deficiency, lipase d//deficiency, lipoprotein lipase//endogenous hypertriglyceridaemia//essential familial hyperlipemia//essential familial hyperlipemias//familial chylomicronemia//familial chylomicronemias//familial fat induced hypertriglyceridemia//familial fat-induced hypertriglyceridemia//familial fat-induced hypertriglyceridemias//familial hyperchylomicronemia//familial hyperchylomicronemias//familial hyperlipemia, essential//familial hyperlipemias, essential//familial hyperlipoproteinemia type 1//familial lpl deficiencies//familial lpl deficiency//familial lipoprotein lipase deficiency//fat-induced hypertriglyceridemia, familial//fat-induced hypertriglyceridemias, familial//fredrickson type i hyperlipoproteinemia//fredrickson type i lipaemia//hdlcq11//high density lipoprotein cholesterol level quantitative trait locus 11//hyperchylomicronemia, familial//hyperlipemia, essential familial//hyperlipemia, idiopathic, burger-grutz type//hyperlipoproteinemia, type ia//hyperchylomicronemias, familial//hyperlipemias, essential familial//hyperlipoproteinemia type ia//hyperlipoproteinemia type ias//hyperlipoproteinemia type ib//hyperlipoproteinemia type ibs//hyperlipoproteinemia type is//hyperlipoproteinemia, type i//hyperlipoproteinemia, type ib//hyperlipoproteinemias, type i//hyperlipoproteinemias, type ia//hyperlipoproteinemias, type ib//hypertriglyceridemia, familial fat-induced//hypertriglyceridemias, familial fat-induced//lipase d deficiency//lipd deficiency//lipd deficiencies//lipoprotein lipase deficiency//lpl deficiency//lpl deficiencies, familial//lpl deficiency, familial//lipase d deficiencies//lipase deficiencies, lipoprotein//lipoprotein lipase deficiencies//lipoprotein lipase deficiency, familial//syndrome, burger-grutz//syndromes, burger-grutz//type i hyperlipoproteinemia//type i hyperlipoproteinemias//type ia hyperlipoproteinemia//type ia hyperlipoproteinemias//type ib hyperlipoproteinemia//type ib hyperlipoproteinemias//familial chylomiconemia syndrome//familial chylomicronemia syndrome//familial hyperlipoproteinemia type i//familial lipoprotein lipase deficiency (disorder) [ambiguous]//familial lipoprotein lipase deficiency with type i phenotype//hypercholesterinaemic xanthomatosis//hyperchylomicronemia//hyperlipoproteinemia type i//hyperlipoproteinemia, type 1//hyperlipoproteinemia, type 1a//mixed hyperglyceridemia	LPL	LPL	https://raresource.nih.gov/literature/disease/0012241	0012241	238600	309015	C0023817			lipoprotein lipase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial lipoprotein lipase deficiency"	0	0	806
Isolated ectopia lentis	abnormality of lens position//congenital ectopic lens//congenital subluxation of lens//ectopia lentis, familial//ectopia lentis, isolated//ectopia lentis//ectopia lentis isolated//ectopia lentis syndrome//familial ectopia lentis//iel//lens dislocation//lentis, ectopia//isolated ectopia lentis//isolated lens position anomaly//nonsyndromic lens position anomaly	FBN1;ADAMTSL4	FBN1;ADAMTSL4	https://raresource.nih.gov/literature/disease/0012251	0012251	225100	1885	C1851286	C536184		fibrillin 1;ADAMTS like 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated ectopia lentis"	0	0	949
Congenital insensitivity to pain-anosmia-neuropathic arthropathy	asymbolia for pain//acroosteolyses, neurogenic//acroosteolysis, giaccai type//acroosteolysis, neurogenic//analgesia, congenital//asymbolia//cip//congenital analgesia, autosomal recessive//channelopathy-associated insensitivity to pain//channelopathy-associated cip//channelopathy-associated congenital insensitivity to pain//congenital analgesia//congenital indifference to pain//congenital insensitivity to pain//congenital insensitivity to pain with anhidrosis//congenital pain indifference//congenital pain indifferences//congenital pain insensitivity//congenital sensory neuropathies//congenital sensory neuropathy//congenital insensitivity to pain and thermal analgesia//congenital pain asymbolia//congenital sensory neuropathy with selective loss of small myelinated fibers//familial dysautonomia, type 2//familial dysautonomia, type ii//giaccai type acroosteolysis//hsan//hsan (hereditary sensory autonomic neuropathy)//hsan - hereditary sensory and autonomic neuropathy//hsan 1//hsan 4//hsan 5//hsan i//hsan iv//hsan type i//hsan type ii//hsan type iv//hsan type v//hsan v//hsan2//hsan2d//hsan2d, ar//hsan5//hsanii//hsans (hereditary sensory autonomic neuropathy)//hsn type i//hsn type ii//hsn type iis//hereditary sensory and autonomic neuropathy iv//hereditary sensory autonomic neuropathy, type 1//hereditary sensory autonomic neuropathy, type 2//hereditary sensory autonomic neuropathy, type 4//hereditary sensory autonomic neuropathy, type 5//hereditary sensory neuropathies//hereditary sensory neuropathy//hereditary sensory neuropathy type 1//hereditary sensory neuropathy type i//hereditary sensory neuropathy type ia//hereditary sensory radicular neuropathy//hereditary sensory radicular neuropathy, recessive form//hereditary sensory and autonomic neuropathies//hereditary sensory and autonomic neuropathy 4//hereditary sensory and autonomic neuropathy type 1//hereditary sensory and autonomic neuropathy type 2//hereditary sensory and autonomic neuropathy type i//hereditary sensory and autonomic neuropathy type ii//hereditary sensory and autonomic neuropathy type iv//hereditary sensory and autonomic neuropathy type v//hereditary sensory and autonomic neuropathy, type 4//hereditary sensory and autonomic neuropathy, type 5//hereditary sensory and autonomic neuropathy//hereditary sensory and autonomic neuropathy, type v//hereditary sensory autonomic neuropathy//insensitivity to pain, channelopathy-associated//insensitivity to pain, congenital//insensitivity to pain with anhidrosis, congenital//insensitivity to pain, congenital, with anhidrosis//insensitivity, congenital pain//neuropathy, hereditary sensory and autonomic, type iid//ngf autosomal recessive hereditary sensory and autonomic neuropathy//neurogenic acroosteolyses//neurogenic acroosteolysis//neuropathies, congenital sensory//neuropathies, hereditary sensory//neuropathies, hereditary sensory and autonomic//neuropathy hereditary sensory radicular, autosomal dominant//neuropathy hereditary sensory and autonomic type 1//neuropathy, congenital sensory//neuropathy, congenital sensory, with anhidrosis//neuropathy, hereditary sensory//neuropathy, hereditary sensory and autonomic, type i//neuropathy, hereditary sensory and autonomic, type v//neuropathy, hereditary sensory radicular, autosomal dominant//neuropathy, hereditary sensory radicular, autosomal recessive//neuropathy, hereditary sensory, type i//neuropathy, progressive sensory, of children//pain indifference, congenital//pain insensitivity with anhidrosis, congenital//pain insensitivity, congenital//scn9a-related congenital insensitivity to pain//sensory neuropathies, congenital//sensory neuropathies, hereditary//sensory neuropathy, congenital//sensory neuropathy, hereditary//sensory and autonomic neuropathies, hereditary//type i, hsan//type i, hsn//type iv, hsan//autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf//channelopathy-associated congenital insensitivity to pain, autosomal recessive//hereditary sensory and autonomic neuropathy type 5//hereditary sensory peripheral neuropathy//indifference to pain, congenital, autosomal recessive//indifference to pain, congenital, autosomal recessive; cip//neuropathy, hereditary sensory and autonomic, type 2d//neuropathy, hereditary sensory and autonomic, type 5//neuropathy, hereditary sensory and autonomic, type v; hsan5	SCN11A;SCN9A;SCN10A	SCN11A;SCN9A;SCN10A	https://raresource.nih.gov/literature/disease/0012267	0012267	243000	88642	C0002768	D000699		sodium voltage-gated channel alpha subunit 11;sodium voltage-gated channel alpha subunit 9;sodium voltage-gated channel alpha subunit 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital insensitivity to pain-anosmia-neuropathic arthropathy"	0	0	1615
Chronic atrial and intestinal dysrhythmia syndrome	caid//caid (chronic atrial and intestinal dysrhythmia) syndrome//caid syndrome//chronic atrial and intestinal dysrhythmia//chronic atrial dysrhythmia-intestinal motility disorder//chronic atrial intestinal dysrhythmia syndrome//cohesinopathy affecting heart and gut rhythm//chronic atrial and intestinal dysrhythmia syndrome//chronic atrial and intestinal dysrhythmia; caid	SGO1	SGO1	https://raresource.nih.gov/literature/disease/0012281	0012281	616201	435988				shugoshin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Chronic atrial and intestinal dysrhythmia syndrome"	0	0	25
Bradyopsia	perrs//prolonged electroretinal response suppression//bradyopsia//prolonged electroretinal response suppression; perrs	RGS9BP;RGS9	RGS9BP;RGS9	https://raresource.nih.gov/literature/disease/0012299	0012299	608415	75374				regulator of G protein signaling 9 binding protein;regulator of G protein signaling 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bradyopsia"	0	0	15
Thomsen and Becker disease	batten turner congenital myopathy//batten-turner congenital myopathy//becker disease//becker generalized myotonia//congenital myotonia//congenital myotonia, autosomal dominant form//disease, becker//disease, thomsen//disease, thomsen's//disease, thomsens//generalized myotonia//generalized myotonia of becker//generalized myotonia of thomsen//generalized myotonia, becker//generalized myotonias//myopathy, congenital//myotonia congenita, autosomal dominant//myotonia congenita, autosomal recessive//myotonia levior//myotonia congenita//myotonia congenita - autosomal dominant form//myotonia congenita autosomal dominant//myotonia, becker generalized//myotonia, generalized//myotonia, generalized, becker//myotonias, generalized//thd//thomsen disease//thomsen generalized myotonia//thomsen myotonia congenita//thomsen's disease//thomsens disease	CLCN1	CLCN1	https://raresource.nih.gov/literature/disease/0012301	0012301	160800	614	C2936781			chloride voltage-gated channel 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Thomsen and Becker disease"	0	0	630
IMAGe syndrome	image//image syndrome//intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome//intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies//intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome//intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities//intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	POLE;CDKN1C	POLE;CDKN1C	https://raresource.nih.gov/literature/disease/0012312	0012312	614732	85173	C1846009			DNA polymerase epsilon, catalytic subunit;cyclin dependent kinase inhibitor 1C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=IMAGe syndrome"	0	0	141
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	autosomal dominant candidiasis familial chronic mucocutaneous//candf7//candidiasis, familial chronic mucocutaneous, autosomal dominant//candidiasis, familial, 7//candidiasis familial, 7//familial chronic mucocutaneous, autosomal dominant//familial candidiasis 7//imd31c//immunodeficiency 31c; imd31c//autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome//candidiasis familial chronic mucocutaneous, autosomal dominant//immunodeficiency 31c//immunodeficiency type 31c	STAT1;TOM1	STAT1;TOM1	https://raresource.nih.gov/literature/disease/0012314	0012314	614162	391487				signal transducer and activator of transcription 1;target of myb1 membrane trafficking protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"	0	0	None
Alacrimia-choreoathetosis-liver dysfunction syndrome	alacrimia choreoathetosis liver dysfunction syndrome//alacrimia, choreoathetosis, liver dysfunction syndrome//cddg//cdg iv//cdg iv, formerly//cdg1v//cdg1v, formerly//congenital disorder of glycosylation, type iv//congenital disorder of glycosylation, type iv, formerly//congenital disorder of deglycosylation;cddg//congenital disorder of glycosylation type iv; cdg1v//deficiency of n-glycanase 1//n-glycanase 1 congenital disorder of deglycosylation//n-glycanase 1 deficiency//ngly1 deficiency//ngly1-cddg//ngly1-cdg//ngly1-congenital disorder of deglycosylation//ngly1-deficiency//alacrimia - choreoathetosis - liver dysfunction syndrome//congenital disorder of deglycosylation//congenital disorder of deglycosylation; cddg//congenital disorder of glycosylation type iv	NGLY1	NGLY1	https://raresource.nih.gov/literature/disease/0012315	0012315	615273	404454				N-glycanase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alacrimia-choreoathetosis-liver dysfunction syndrome"	0	0	78
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	alps due to ctla4 haploinsuffiency//alps type 5//alps type v//alps5//autoimmune lymphoproliferative syndrome 5//autoimmune lymphoproliferative syndrome type 5//autoimmune lymphoproliferative syndrome type v//autoimmune lymphoproliferative syndrome, type v//chai//ctla-4 haploinsufficiency with autoimmune infiltration disease//ctla4 haploinsufficiency with autoimmune infiltration//ctla4 haploinsufficiency//idail//immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation//autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency//autoimmune lymphoproliferative syndrome, type 5//autoimmune lymphoproliferative syndrome, type v; alps5	CTLA4	CTLA4	https://raresource.nih.gov/literature/disease/0012316	0012316	616100	436159				cytotoxic T-lymphocyte associated protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"	0	0	19
Hereditary sensory and autonomic neuropathy type 5	congenital insensitivity to pain and thermal analgesia//hsan5//hereditary sensory and autonomic neuropathy type v	NTRK1;NGF	NTRK1;NGF	https://raresource.nih.gov/literature/disease/0012328	0012328	608654	64752	C0002768	D000699		neurotrophic receptor tyrosine kinase 1;nerve growth factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 5"	0	0	22
Dihydropyrimidinuria	dihydropyrimidinuria//dph deficiency//dpys deficiency//dpysd//dihydropyrimidinase deficiency//dihydropyrimidinase 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[]=Dihydropyrimidinuria"	0	0	36
COG5-CDG	cdg iii//cdg syndrome type 3//cdg syndrome type iii//cdg-iii//cdg2i//cdg2i - carbohydrate deficient glycoprotein syndrome type iii//cdgiidi//cdgiii//cog5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation//cog5 congenital disorder of glycosylation//cog5-cdg (cdg-iii)//cog5-cdg (cdg-iii).//congenital disorder of glycosylation, type iii//carbohydrate deficient glycoprotein syndrome type iii//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; cdg2i	COG5	COG5	https://raresource.nih.gov/literature/disease/0012348	0012348	613612	263487				component of oligomeric golgi complex 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG5-CDG"	0	0	6
Breast-ovarian cancer, familial, susceptibility to, 1	brca1//brca1 hereditary breast and ovarian cancer syndrome//brca1- and brca2-associated hereditary breast and ovarian cancer//brca1- and brca2-associated hereditary breast and ovarian cancer (hboc)//brca2//brca2 hereditary breast and ovarian cancer syndrome//brovca1//brovca2//familial susceptibility to breast-ovarian cancer 1//familial susceptibility to breast-ovarian cancer 2//familiar breast and ovarian cancer syndrome//hboc//hboc syndrome//hboc syndromes//hboc1//hereditary breast and ovarian cancer//hereditary breast and ovarian cancer syndrome (hboc)//syndrome, hboc//syndromes, hboc//breast-ovarian cancer, familial, susceptibility to//familial breast and ovarian cancer syndrome//familial breast/ovarian cancer (brca1, brca2)//hereditary breast and ovarian cancer syndrome//hereditary breast ovarian cancer//hereditary breast ovarian cancer syndrome//hereditary breast/ovarian cancer (brca1, brca2)	BRCA1	BRCA1	https://raresource.nih.gov/literature/disease/0012351	0012351		145	C2676676			BRCA1 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Breast-ovarian cancer, familial, susceptibility to, 1"	0	0	1853
Breast-ovarian cancer, familial, susceptibility to, 2	hboc2	BRCA2	BRCA2	https://raresource.nih.gov/literature/disease/0012352	0012352		145	C2675520			BRCA2 DNA repair associated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Breast-ovarian cancer, familial, susceptibility to, 2"	0	0	None
Autosomal recessive axonal neuropathy with neuromyotonia	aran-nm//arcmt2-nm//autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia//gamstorp-wohlfart syndrome//myokymia, myotonia, and muscle wasting//nman//autosomal recessive axonal neuropathy with neuromyotonia//autosomal recessive neuromyotonia and axonal neuropathy//myokymia, myotonia and muscle wasting//neuromyotonia and axonal neuropathy, autosomal recessive//neuromyotonia and axonal neuropathy, autosomal recessive; nman	HINT1	HINT1	https://raresource.nih.gov/literature/disease/0012353	0012353	137200	324442				histidine triad nucleotide binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive axonal neuropathy with neuromyotonia"	0	0	9
Distal renal tubular acidosis with anemia	drta with anemia	SLC4A1	SLC4A1	https://raresource.nih.gov/literature/disease/0012354	0012354	611590	93610	C1969038			solute carrier family 4 member 1 (Diego blood group)	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Distal renal tubular acidosis with anemia"	0	0	None
Loeys-dietz syndrome 5	lds5//loeys-dietz syndrome 5//loeys-dietz syndrome 5; lds5//loeys-dietz syndrome type 5//loeys-dietz syndrome-5//rienhoff syndrome//rnhf//reinhoff syndrome	TGFB3	TGFB3	https://raresource.nih.gov/literature/disease/0012356	0012356			C3810012			transforming growth factor beta 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Loeys-dietz syndrome 5"	0	0	4
STING-associated vasculopathy with onset in infancy	savi//sting-associated vasculopathy, infantile-onset//sting-associated vasculopathy, infantile-onset; savi	STING1	STING1	https://raresource.nih.gov/literature/disease/0012357	0012357	615934	425120				stimulator of interferon response cGAMP interactor 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=STING-associated vasculopathy with onset in infancy"	0	0	102
Microcytic anemia with liver iron overload	ahmio1//hypochromic microcytic anemia with iron overload//microcytic anemia and hepatic iron overload//anemia, hypochromic microcytic, with iron overload 1//anemia, hypochromic microcytic, with iron overload 1; ahmio1//anemia, hypochromic microcytic, with iron overload type 1//microcytic anemia with liver iron overload	SLC11A2	SLC11A2	https://raresource.nih.gov/literature/disease/0012360	0012360	206100	83642	C2673913			solute carrier family 11 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microcytic anemia with liver iron overload"	0	0	1
Familial hyperaldosteronism type III	fh 3//fh iii//fh-iii//fh3//familial hyperaldosteronism type 3//familial hyperaldosteronism type iii //hald3//familial hyperaldosteronism type iii//hyperaldosteronism, familial, type 3//hyperaldosteronism, familial, type iii//hyperaldosteronism, familial, type iii; hald3	KCNJ5	KCNJ5	https://raresource.nih.gov/literature/disease/0012362	0012362	613677	251274				potassium inwardly rectifying channel subfamily J member 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial hyperaldosteronism type III"	0	0	27
Spinocerebellar ataxia type 19/22	sca19//sca19 spinocerebellar ataxia 19//sca19/22//sca22//spinocerebellar ataxia 22//spinocerebellar ataxia 19//spinocerebellar ataxia 19 and 22//spinocerebellar ataxia 19; sca19//spinocerebellar ataxia type 19//spinocerebellar ataxia type 19/22	KCND3	KCND3	https://raresource.nih.gov/literature/disease/0012365	0012365	607346	98772	C1846367	C537198		potassium voltage-gated channel subfamily D member 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 19/22"	0	0	19
Spinocerebellar ataxia type 37	sca37//spinocerebellar ataxia 37//spinocerebellar ataxia with altered vertical eye movement//spinocerebellar ataxia with altered vertical eye movements//spinocerebellar ataxia 37; sca37//spinocerebellar ataxia type 37	DAB1	DAB1	https://raresource.nih.gov/literature/disease/0012368	0012368	615945	363710				DAB adaptor protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 37"	0	0	10
Spinocerebellar ataxia type 40	sca40//spinocerebellar ataxia 40//spinocerebellar ataxia 40; sca40//spinocerebellar ataxia type 40	CCDC88C	CCDC88C	https://raresource.nih.gov/literature/disease/0012371	0012371	616053	423275				coiled-coil domain containing 88C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia type 40"	0	0	7
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	adca-dn//adca-dn syndrome//adcadn//autosomal dominant cerebellar ataxia, deafness and narcolepsy//autosomal dominant cerebellar ataxia, deafness, and narcolepsy//autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome//autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome//cerebellar ataxia, deafness, and narcolepsy, autosomal dominant//cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; adcadn	DNMT1	DNMT1	https://raresource.nih.gov/literature/disease/0012372	0012372	604121	314404				DNA methyltransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"	0	0	19
Idiopathic CD4 lymphocytopenia	icl//idiopathic cd4 lymphopenia//imd13//immunodeficiency 13//idiopathic cd4 positive t-lymphocytopenia//idiopathic cd4 lymphocytopenia//immunodeficiency 13; imd13//immunodeficiency type 13	UNC119	UNC119	https://raresource.nih.gov/literature/disease/0012375	0012375	615518	228000				unc-119 lipid binding chaperone	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Idiopathic CD4 lymphocytopenia"	0	0	305
Sudden infant death-dysgenesis of the testes syndrome	siddt//sudden infant death - dysgenesis of the testes//sudden infant death with dysgenesis of testes syndrome//sudden infant death with dysgenesis of the testes syndrome//sudden infant death with dysgenesis of the testes syndrome; siddt//sudden infant death-dysgenesis of the testes syndrome	TSPYL1	TSPYL1	https://raresource.nih.gov/literature/disease/0012382	0012382	608800	168593	C1837371			TSPY like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Sudden infant death-dysgenesis of the testes syndrome"	0	0	5
Vasculitis due to ADA2 deficiency	ada2 deficiency//adenosine deaminase 2 deficiency//childhood-onset polyarteritis nodosa//dada2//pan//polyarteritis nodosa, childhood-onset//vaihs//vasculitis due to dada2//polyarteritis nodosa, childhood-onset; pan	ADA2	ADA2	https://raresource.nih.gov/literature/disease/0012383	0012383	615688	404553				adenosine deaminase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Vasculitis due to ADA2 deficiency"	0	0	2154
Hypopigmentation-punctate palmoplantar keratoderma syndrome	cole disease; coled//coled//cole disease//cole disease //guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification//guttate hypopigmentation//guttate hypopigmentation and punctate palmoplantar keratoderma//hypopigmentation and punctate keratosis of the palms and soles//punctate palmoplantar keratoderma with or without ectopic calcification//hypopigmentation-punctate palmoplantar keratoderma syndrome	ENPP1	ENPP1	https://raresource.nih.gov/literature/disease/0012384	0012384	615522	324561				ectonucleotide pyrophosphatase/phosphodiesterase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypopigmentation-punctate palmoplantar keratoderma syndrome"	0	0	19
Male infertility due to large-headed multiflagellar polyploid spermatozoa	infertility associated with multi-tailed spermatozoa and excessive dna//infertility associated with multitailed spermatozoa and excessive dna//infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid//male infertility with large-headed, multiflagellar, polyploid spermatozoa//macrocephalic sperm head syndrome//macrozoospermia//macrozoospermia //male infertility due to macrozoospermia//spermatogenic failure 5//spgf5//male infertility due to large-headed multiflagellar polyploid spermatozoa//spermatogenic failure 5; spgf5//spermatogenic failure type 5	CFAP47;AURKC;DNHD1;DNAH10	CFAP47;AURKC;DNHD1;DNAH10	https://raresource.nih.gov/literature/disease/0012385	0012385	243060	137893	C0403812			cilia and flagella associated protein 47;aurora kinase C;dynein heavy chain domain 1;dynein axonemal heavy chain 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Male infertility due to large-headed multiflagellar polyploid spermatozoa"	0	0	25
Developmental and epileptic encephalopathy 26	26//dee26//developmental and epileptic encephalopathy 26//eiee26//epileptic encephalopathy, early infantile, 26//early infantile epileptic encephalopathy 26//early infantile epileptic encephalopathy 26 //epileptic encephalopathy//kcnb1 early infantile epileptic encephalopathy//developmental and epileptic encephalopathy, 26//early infantile//early infantile epileptic encephalopathy caused by mutation in kcnb1//epileptic encephalopathy, early infantile, 26; eiee26//epileptic encephalopathy, early infantile, type 26	KCNB1	KCNB1	https://raresource.nih.gov/literature/disease/0012391	0012391			C4015119			potassium voltage-gated channel subfamily B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 26"	0	0	1744
DK1-CDG	cdg im//cdg syndrome type im//cdg-im//cdg1m//cdgim//carbohydrate deficient glycoprotein syndrome type im//congenital disorder of glycosylation type 1m//congenital disorder of glycosylation type im//congenital disorder of glycosylation, type im//dk1 deficiency//dolichol kinase deficiency//dolk-cdg (cdg-im)//dolk-congenital disorder of glycosylation//hypotonia and ichthyosis due to dolichol phosphate deficiency//congenital disorder of glycosylation 1m//congenital disorder of glycosylation, type im; cdg1m	DOLK	DOLK	https://raresource.nih.gov/literature/disease/0012393	0012393	610768	91131	C1835849			dolichol kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DK1-CDG"	0	0	10
RFT1-CDG	cdg in//cdg syndrome type in//cdg-in//cdg1n//cdgin//carbohydrate deficient glycoprotein syndrome type in//congenital disorder of glycosylation type 1n//congenital disorder of glycosylation type in//congenital disorder of glycosylation, type in//man5glcnac2-pp-dol flippase deficiency//man5glcnac2-dolichylpyrophosphate flippase deficiency//rft1-cdg (cdg-in)//rft1-cdg (congenital disorder of glycosylation)//rft1-congenital disorder of glycosylation//congenital disorder of glycosylation 1n//congenital disorder of glycosylation, type in; cdg1n	RFT1	RFT1	https://raresource.nih.gov/literature/disease/0012394	0012394	612015	244310	C2677590			RFT1 homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=RFT1-CDG"	0	0	4
DPM3-CDG	cdg io//cdg syndrome type io//cdg-io//cdg1(dpm3)//cdg1o//cdgio//congenital disorder of glycosylation, type io//carbohydrate deficient glycoprotein syndrome type io//congenital disorder of glycosylation type 1o//congenital disorder of glycosylation type io//dg1o//dpm3-cdg (cdg-io)//mddgc15//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15//muscular dystrophy-dystroglycanopathy, limb-girdle, dpm3-related//congenital disorder of glycosylation, type io; cdg1o	DPM3	DPM3	https://raresource.nih.gov/literature/disease/0012395	0012395	612937	263494	C2752007			dolichyl-phosphate mannosyltransferase subunit 3, regulatory	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DPM3-CDG"	0	0	1
ALG11-CDG	alg11-cdg (cdg-ip)//alg11-cdg - asparagine-linked glycosylation 11 congenital disorder of glycosylation//asparagine-linked glycosylation 11 congenital disorder of glycosylation//cdg syndrome type ip//cdg-ip//cdg1p//congenital disorder of glycosylation, type ip//carbohydrate deficient glycoprotein syndrome type ip//congenital disorder of glycosylation type 1p//congenital disorder of glycosylation type ip//congenital disorder of glycosylation 1p//congenital disorder of glycosylation, type ip; cdg1p	ALG11	ALG11	https://raresource.nih.gov/literature/disease/0012396	0012396	613661	280071				ALG11 alpha-1,2-mannosyltransferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG11-CDG"	0	0	5
SRD5A3-CDG	cdg iq//cdg syndrome type iq//cdg-iq//cdg1q//cdgiq//coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities//congenital disorder of glycosylation, type iq//coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities//congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency//congenital disorder of glycosylation type 1q//congenital disorder of glycosylation type iq//ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities//srd5a3-cdg (cdg-iq)//srd5a3-cdg (cdg-iq) //srd5a3-cdg - steroid 5 alpha-reductase 3 congenital disorder of glycosylation//congenital disorder of glycosylation 1q//congenital disorder of glycosylation, type iq; cdg1q	SRD5A3	SRD5A3	https://raresource.nih.gov/literature/disease/0012397	0012397	612379	324737	C3150191			steroid 5 alpha-reductase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SRD5A3-CDG"	0	0	6
DDOST-CDG	cdg syndrome type ir//cdg-ir//cdg1r//carbohydrate deficient glycoprotein syndrome type//carbohydrate deficient glycoprotein syndrome type ir//congenital disorder of glycosylation type 1r//congenital disorder of glycosylation type ir//congenital disorder of glycosylation, type ir//ddost-cdg (cdg-ir)//ddost-cdg - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation//dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation//congenital disorder of glycosylation 1r//congenital disorder of glycosylation, type ir; cdg1r	DDOST	DDOST	https://raresource.nih.gov/literature/disease/0012398	0012398	614507	300536				dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DDOST-CDG"	0	0	3
ALG13-CDG	cdg is//cdg syndrome type is//cdg-is//cdg1s//cdgis//congenital disorder of glycosylation, type is//congenital disorder of glycosylation type 1s//congenital disorder of glycosylation type is//dee36//developmental and epileptic encephalopathy 36//eiee36//epileptic encephalopathy, early infantile, 36//early infantile epileptic encephalopathy 36//congenital disorder of glycosylation, type is; cdg1s//developmental and epileptic encephalopathy, 36//epileptic encephalopathy, early infantile, 36; eiee36	ALG13	ALG13	https://raresource.nih.gov/literature/disease/0012401	0012401	300884	324422				ALG13 UDP-N-acetylglucosaminyltransferase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ALG13-CDG"	0	0	9
SLC35A2-CDG	cdg iim//cdg syndrome type iim//cdg-iim//cdg2m//cdg2m - congenital disorder of glycosylation type 2m//cdgiim//congenital disorder of glycosylation, type iim//congenital disorder of glycosylation, type iim, somatic mosaic//congenital disorder of glycosylation type 2m//congenital disorder of glycosylation type iim//dee22//developmental and epileptic encephalopathy 22//eiee22//epileptic encephalopathy, early infantile, 22//epileptic encephalopathy, early infantile, 22; eiee22//slc35a2-cdg - solute carrier family 35 member a2 congenital disorder of glycosylation//solute carrier family 35 member a2 congenital disorder of glycosylation//congenital disorder of glycosylation, type iim; cdg2m	SLC35A2	SLC35A2	https://raresource.nih.gov/literature/disease/0012403	0012403	300896	356961				solute carrier family 35 member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SLC35A2-CDG"	0	0	9
Alacrima, achalasia, and mental retardation syndrome	aamr//gmppa-cdg//alacrima, achalasia, and intellectual disability syndrome//alacrima, achalasia, and intellectual disability syndrome; aamr//alacrima, achalasia, and mental retardation syndrome//alacrima, achalasia, and mental retardation syndrome; aamr	GMPPA	GMPPA	https://raresource.nih.gov/literature/disease/0012404	0012404			C4706563			GDP-mannose pyrophosphorylase A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alacrima, achalasia, and mental retardation syndrome"	0	0	47
SSR4-CDG	cdg 1y//cdg iie//cdg iy//cdg syndrome type iie//cdg syndrome type iy//cdg-iy//cdg1y//cdg2e//cdgiide//cdgiy//congenital disorder of glycosylation, type iy//carbohydrate deficient glycoprotein syndrome type iie//carbohydrate deficient glycoprotein syndrome type iy//congenital disorder of glycosylation type 1y//congenital disorder of glycosylation type iy//ssr4-cdg - signal sequence receptor subunit 4 congenital disorder of glycosylation//signal sequence receptor subunit 4 congenital disorder of glycosylation//congenital disorder of glycosylation, type iy; cdg1y	SSR4	SSR4	https://raresource.nih.gov/literature/disease/0012405	0012405	300934	370927				signal sequence receptor subunit 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SSR4-CDG"	0	0	4
SLC35A1-CDG	cdg iif//cdg syndrome type iif//cdg-iif//cdg2f//cdgiif//cdgiidf//cmp-sialic acid transporter deficiency//congenital disorder of glycosylation, type iif//carbohydrate deficient glycoprotein syndrome type iif//congenital disorder of glycosylation type 2f//congenital disorder of glycosylation type iif//slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation//slc35a1 congenital disorder of glycosylation//slc35a1-cdg (cdg-iif)//solute carrier family 35 member a1 congenital disorder of glycosylation//congenital disorder of glycosylation, type iif; cdg2f	SLC35A1	SLC35A1	https://raresource.nih.gov/literature/disease/0012409	0012409	603585	238459	C1970344			solute carrier family 35 member A1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=SLC35A1-CDG"	0	0	1
COG8-CDG	cdg iiih//cdg iih//cdg syndrome type iih//cdg-iih//cdg2h//cdgiih//cdgiidh//cog8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation//cog8 congenital disorder of glycosylation//cog8-cdg (cdg-iih)//carbohydrate deficient glycoprotein syndrome type iih//component of oligomeric golgi complex 8 congenital disorder of glycosylation//congenital disorder of glycosylation type 2h//congenital disorder of glycosylation type iih//congenital disorder of glycosylation, type iih//congenital disorder of glycosylation, type iih; cdg2h	COG8	COG8	https://raresource.nih.gov/literature/disease/0012411	0012411	611182	95428	C1970021			component of oligomeric golgi complex 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG8-CDG"	0	0	3
COG4-CDG	cdg iij//cdg syndrome type iij//cdg-iij//cdg2j//cdgiidj//cdgiij//cog4-cdg (cdg-iij)//congenital disorder of glycosylation, type iij//carbohydrate deficient glycoprotein syndrome type iij//congenital disorder of glycosylation type 2j//congenital disorder of glycosylation type iij//congenital disorder of glycosylation, type iij; cdg2j	COG4	COG4	https://raresource.nih.gov/literature/disease/0012412	0012412	613489	263501				component of oligomeric golgi complex 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COG4-CDG"	0	0	None
TMEM165-CDG	cdg iik//cdg syndrome type iik//cdg-iik//cdg2k//cdgiidk//cdgiik//congenital disorder of glycosylation, type iik//carbohydrate deficient glycoprotein syndrome type 2k//carbohydrate deficient glycoprotein syndrome type iik//congenital disorder of glycosylation type 2k//congenital disorder of glycosylation type iik//tmem165-cdg (cdg-iik)//tmem165-cdg - transmembrane protein 165 congenital disorder of glycosylation//transmembrane protein 165 congenital disorder of glycosylation//congenital disorder of glycosylation, type iik; cdg2k	TMEM165	TMEM165	https://raresource.nih.gov/literature/disease/0012413	0012413	614727	314667				transmembrane protein 165	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=TMEM165-CDG"	0	0	3
Congenital muscular dystrophy with intellectual disability and severe epilepsy	cdg iu//cdg syndrome type iu//cdg-iu//cdg1u//cdgiu//cmd with intellectual disability and severe epilepsy//congenital disorder of glycosylation, type iu//carbohydrate deficient glycoprotein syndrome type iu//congenital disorder of glycosylation type 1u//congenital disorder of glycosylation type iu//dpm2-cdg//dpm2-cdg (cdg-iu)//congenital disorder of glycosylation 1u//congenital disorder of glycosylation, type iu; cdg1u//congenital muscular dystrophy with intellectual disability and severe epilepsy	DPM2	DPM2	https://raresource.nih.gov/literature/disease/0012416	0012416	615042	329178				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"	0	0	1
MAN1B1-CDG	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 - mannosidase alpha class 1b member 1 deficiency congenital disorder of glycosylation	MAN1B1	MAN1B1	https://raresource.nih.gov/literature/disease/0012417	0012417		397941				mannosidase alpha class 1B member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MAN1B1-CDG"	0	0	6
Congenital intrauterine infection-like syndrome	band-like calcification with simplified gyration and polymicrogyria//blc-pmg//blcpmg//baraitser brett piesowicz syndrome//baraitser-brett-piesowicz syndrome//baraitser-reardon syndrome//bilateral band-like calcification with polymicrogyria//microcephaly - intracranial calcification - intellectual disability//microcephaly intracranial calcification//microcephaly, intracranial calcification, intellectual disability syndrome//microcephaly-intracranial calcification-intellectual disability syndrome//pseudo-torch syndrome//ptorch1//band-like calcification with simplified gyration and polymicrogyria; blcpmg//congenital intrauterine infection-like syndrome//pseudo-torch syndrome 1//pseudo-torch syndrome 1; ptorch1//pseudo-torch syndrome type 1	OCLN	OCLN	https://raresource.nih.gov/literature/disease/0012426	0012426	251290	1229	C3489725			occludin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital intrauterine infection-like syndrome"	0	0	27
Charcot-Marie-Tooth disease type 2P	charcot-marie-tooth disease, axonal, type 2g//charcot-marie-tooth disease, axonal, type 2g, formerly//charcot-marie-tooth disease, axonal, type 2p//charcot-marie-tooth neuropathy, type 2p//cmt 2g//cmt2g//cmt2g, formerly//cmt2p//charcot marie tooth disease type 2g//charcot-marie-tooth neuropathy type 2g//charcot-marie-tooth neuropathy, type 2g//charcot-marie-tooth disease axonal type 2p//charcot-marie-tooth disease caused by mutation in lrsam1//charcot-marie-tooth disease type 2g//charcot-marie-tooth disease, type 2g//charcot-marie-tooth disease, axonal, type 2g; cmt2g//charcot-marie-tooth disease, axonal, type 2p; cmt2p//charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive//charcot-marie-tooth disease, type 4a, axonal form//charcot-marie-tooth neuropathy type 2p//charcot-marie-toothe disease, axonal, type 2p//lrsam1 charcot-marie-tooth disease//autosomal dominant charcot-marie-tooth disease type 2g	LRSAM1	LRSAM1	https://raresource.nih.gov/literature/disease/0012435	0012435	614436	300319				leucine rich repeat and sterile alpha motif containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Charcot-Marie-Tooth disease type 2P"	0	0	11
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//gan2//giant axonal neuropathy, autosomal dominant//hmsn2 with giant axons//autosomal dominant charcot-marie-tooth disease type 2 with giant axons//giant axonal neuropathy 2//giant axonal neuropathy 2, autosomal dominant//giant axonal neuropathy 2, autosomal dominant; gan2//giant axonal neuropathy caused by mutation in dcaf8//giant axonal neuropathy type 2	DCAF8	DCAF8	https://raresource.nih.gov/literature/disease/0012447	0012447	610100	401964				DDB1 and CUL4 associated factor 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"	0	0	None
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	arcmt2k//autosomal recessive axonal cmt4c4//autosomal recessive axonal charcot-marie-tooth disease type 2k	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[]=Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"	0	0	None
Sickle cell-hemoglobin D disease syndrome	double heterozygous for hb s + hb d punjab//hbs-hbd disease//hbsd disease//hemoglobin s-d disease//hemoglobin s/d punjab disease//hemoglobin sd//hemoglobin sd disease//sickle cell-hemoglobin d disease//sickle cell - hemoglobin d disease//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 syndrome"	0	0	23
Glutaric acidemia type 3	ga iii//ga3//glutaric aciduria iii//glutaryl-coa oxidase deficiency//ga 3//glutaric acidemia type iii//glutaric aciduria type 3//glutaric aciduria type iii//glutaryl-coenzyme a oxidase deficiency//sugct glutaric aciduria (disease)//glutaric acidemia type 3//glutaric aciduria (disease) caused by mutation in sugct//glutaric aciduria 3//glutaric aciduria iii; ga3	SUGCT	SUGCT	https://raresource.nih.gov/literature/disease/0012469	0012469	231690	35706	C0342873			succinyl-CoA:glutarate-CoA transferase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Glutaric acidemia type 3"	0	0	12
Leukoencephalopathy-dystonia-motor neuropathy syndrome	lkdmn//leukoencephalopathy - dystonia - motor neuropathy//leukoencephalopathy - dystonia - motor neuropathy //leukoencephalopathy with dystonia and motor neuropathy//scp2 deficiency//sterol carrier protein 2 deficiency//leukoencephalopathy with dystonia and motor neuropathy; lkdmn//leukoencephalopathy-dystonia-motor neuropathy syndrome	SCP2	SCP2	https://raresource.nih.gov/literature/disease/0012471	0012471	613724	163684				sterol carrier protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy-dystonia-motor neuropathy syndrome"	0	0	4
CADDS	contiguous abcd1/dxs1375e deletion syndrome//contiguous abcd1 dxs1357e deletion syndrome//ddch//deafness, dystonia, and cerebral hypomyelination//deafness, dystonia, and cerebral hypomyelination //zellweger-like contiguous gene deletion syndrome	BCAP31;ABCD1	BCAP31;ABCD1	https://raresource.nih.gov/literature/disease/0012472	0012472	300475	369942	C1845408			B cell receptor associated protein 31;ATP binding cassette subfamily D member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CADDS"	0	0	7
Periodontal Ehlers-Danlos syndrome	eds 8//eds viii//eds viii (formerly)//eds8//eds8 (formerly)//edspd1//ehlers-danlos syndrome, periodontitis type//ehlers-danlos syndrome, periodontosis type//ehlers-danlos syndrome, type viii//ehlers-danlos syndrome//ehlers-danlos syndrome type 8//ehlers-danlos syndrome type 8 (formerly)//ehlers-danlos syndrome, periodontal type, 1//ehlers-danlos syndrome, periodontal type, 1; edspd1//ehlers-danlos syndrome, type 8//ehlers-danlos syndrome, type viii (formerly)//periodontal eds//peds//periodontal ehlers-danlos syndrome//periodontitis type	C1S;C1R	C1S;C1R	https://raresource.nih.gov/literature/disease/0012474	0012474	617174	75392	C0268347			complement C1s;complement C1r	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periodontal Ehlers-Danlos syndrome"	0	0	2955
Bleeding disorder due to P2Y12 defect	adp platelet receptor p2y12 defect//bdplt8//bleeding disorder due to p2ry12 defect//bleeding disorder due to adp platelet receptor p2y12 defect//bleeding disorder due to p2rx1 defect, somatic//bleeding disorder, platelet-type 8//p2y12 defect//bleeding disorder, platelet-type, 8//bleeding disorder, platelet-type, 8; bdplt8//platelet-type bleeding disorder 8	P2RY12	P2RY12	https://raresource.nih.gov/literature/disease/0012478	0012478	609821	36355	C1853278			purinergic receptor P2Y12	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding disorder due to P2Y12 defect"	0	0	1
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome//corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia//graham-cox syndrome//mental retardation, x-linked, syndromic 28//mrxs28//corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome//corpus callosum, agenesis of, with intellectual disability, 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//intellectual disability, x-linked, syndromic 28	IGBP1	IGBP1	https://raresource.nih.gov/literature/disease/0012486	0012486	300472	52055	C1845446			immunoglobulin binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	0	0	None
X-linked lissencephaly with abnormal genitalia	hydranencephaly and abnormal genitalia//hydranencephaly with abnormal genitalia//lissencephaly, x-linked, with ambiguous genitalia//lisx2//lissencephaly, x-linked 2//x-linked lissencephaly - agenesis of the corpus callosum - genital anomalies//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//xlag (x-linked lissencephaly with abnormal genitalia) syndrome//xlag syndrome//xlisg//lissencephaly, x-linked, 2//lissencephaly, x-linked, 2; lisx2//lissencephaly, x-linked, type 2	ARX	ARX	https://raresource.nih.gov/literature/disease/0012491	0012491	300215	452	C1846171			aristaless related homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked lissencephaly with abnormal genitalia"	0	0	46
20p12.3 microdeletion syndrome	del(20)(p12.3)//monosomy 20p12.3	BMP2	BMP2	https://raresource.nih.gov/literature/disease/0012492	0012492		261295				bone morphogenetic protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=20p12.3 microdeletion syndrome"	0	0	None
Aromatase excess syndrome	aexs//aromatase activity, increased//aromatase excess syndrome//familial gynecomastia, due to increased aromatase activity//familial hyperestrogenism//gynecomastia, familial, due to increased aromatase activity//gynecomastia, hereditary//hereditary prepubertal gynecomastia//aromatase excess syndrome; aexs//increased aromatase activity	CYP19A1	CYP19A1	https://raresource.nih.gov/literature/disease/0012494	0012494	139300	178345	C1970109			cytochrome P450 family 19 subfamily A member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aromatase excess syndrome"	0	0	25
Intellectual disability-severe speech delay-mild dysmorphism syndrome	foxp1 related global developmental delay, intellectual disability and speech defects//foxp1 syndrome//intellectual disability with language impairment and with or without autistic features//intellectual disability-severe speech delay-mild dysmorphism syndrome //mental retardation with language impairment and with or without autistic features//intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1	FOXP1	https://raresource.nih.gov/literature/disease/0012501	0012501	613670	391372				forkhead box P1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-severe speech delay-mild dysmorphism syndrome"	0	0	17
Male infertility due to globozoospermia	globozoospermia, complete//globozoospermia, total//globozoospermia//mae infertility due to round-headed spermatozoa//male infertility due to round-headed spermatozoa//round-headed sperm syndrome//spermatogenic failure 9//spgf9//male infertility due to globozoospermia	PICK1;SPATA16;DPY19L2;GOPC	PICK1;SPATA16;DPY19L2;GOPC	https://raresource.nih.gov/literature/disease/0012502	0012502	102530	171709				protein interacting with PRKCA 1;spermatogenesis associated 16;dpy-19 like 2;golgi associated PDZ and coiled-coil motif containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Male infertility due to globozoospermia"	0	0	223
FKRP-related limb-girdle muscular dystrophy R9	autosomal recessive limb-girdle muscular dystrophy type 2i//fkrp autosomal recessive limb-girdle muscular dystrophy//fkrp-related limb-girdle muscular dystrophy r9//fkrp-related lgmd r9//lgmd due to fkrp deficiency//lgmd type 2i//lgmd-fkrp related//lgmd2i//lgmdr9//limb-girdle muscular dystrophy due to fkrp deficiency//limb-girdle muscular dystrophy type 2i//mddgc5//muscular dystrophy, limb-girdle, autosomal recessive 9//muscular dystrophy, limb-girdle, type 2i//muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related//muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5//autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp//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; mddgc5//muscular dystrophy-dystroglycanopathy limb-girdle frkp-related	FKRP	FKRP	https://raresource.nih.gov/literature/disease/0012533	0012533	607155	34515	C1846672			fukutin related protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FKRP-related limb-girdle muscular dystrophy R9"	0	0	112
Isolated congenital adermatoglyphia	aderm//adg//absence of fingerprints//adermatoglyphia//congenital absence of fingerprints//immigration delay disease//adermatoglyphia; aderm//isolated congenital adermatoglyphia	SMARCAD1	SMARCAD1	https://raresource.nih.gov/literature/disease/0012550	0012550	136000	289465				SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital adermatoglyphia"	0	0	44
Familial congenital mirror movements	bimanual synergia//bimanual synkinesis//cmm//congenital mirror movement disorder//congenital mirror movements//familial congenital controlateral synkinesia//hereditary congenital controlateral synkinesia//hereditary congenital mirror movements//isolated congenital controlateral synkinesia//isolated congenital mirror movements//mirror movements//familial congenital mirror movements	DNAL4;NTN1;RAD51;DCC	DNAL4;NTN1;RAD51;DCC	https://raresource.nih.gov/literature/disease/0012551	0012551	614508	238722				dynein axonemal light chain 4;netrin 1;RAD51 recombinase;DCC netrin 1 receptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial congenital mirror movements"	0	0	798
Intellectual developmental disorder, autosomal dominant 5	autosomal dominant intellectual disability 5//mrd5//mental retardation//syngap1 gene mutation linked to intellectual disability, schizophrenia and autism//syngap1 autosomal dominant non-syndromic intellectual disability//syngap1 syndrome//syngap1-related nsid//syngap1-related non-syndromic intellectual disability//autosomal dominant 5//autosomal dominant mental retardation 5//autosomal dominant non-syndromic intellectual disability 5//autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1//intellectual disability, autosomal dominant 5//intellectual disability, autosomal dominant 5; mrd5//intellectual disability, autosomal dominant type 5//mental retardation, autosomal dominant 5//mental retardation, autosomal dominant 5; mrd5//mental retardation, autosomal dominant type 5	SYNGAP1	SYNGAP1	https://raresource.nih.gov/literature/disease/0012558	0012558			C2675473			synaptic Ras GTPase activating protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 5"	0	0	22858
Hurler syndrome	dysostosis multiplex syndrome//hurler disease//hurler disease mps type 1h//hurler-pfaundler syndrome//l-iduronidase deficiency, hurler type//mps i h//mps1-h//mps1h//mpsih//mucopolysaccharidosis type ih//mucopolysaccharidosis ih//mucopolysaccharidosis type 1h//mucopolysaccharidosis type i severe form//dysostosis multiplex//gargoylism	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"	0	0	859
Hurler-Scheie syndrome	hurler scheie syndrome//hurler-scheie syndrome//hurler-scheie disease mps type 1h/s//hurler–scheie syndrome//hurler–scheie syndrome //l-iduronidase deficiency, hurler-scheie type//mps i h-s//mps1-hs//mps1h/s//mpsih/s//mucopolysaccharidosis type ih/s//mucopolysaccharidosis ih/s//mucopolysaccharidosis type ih s//mucopolysaccharidosis type 1h/s//mucopolysaccharidosis type i-h/s//mucopolysaccharidosis, mps-i-h/s//scheie disease mps type 1s//scheie's syndrome//l-iduronidase deficiency, scheie type//mucopolysaccharidosis type i mild form//mucopolysaccharidosis type i-s//mucopolysaccharidosis, mps-i-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[]=Hurler-Scheie syndrome"	0	0	103
Scheie syndrome	l-iduronidase deficiency, scheie type//mps 1-s - mucopolysaccharidosis type i-s//mps i s//mps v//mps v, formerly//mps1-s//mps1s//mps5, formerly//mpsis//mucopolysaccharidosis type is//mucopolysaccharidosis type v//mucopolysaccharidosis type v, formerly//mucopolysaccharidosis 5//mucopolysaccharidosis i s//mucopolysaccharidosis i-s//mucopolysaccharidosis is//mucopolysaccharidosis v//mucopolysaccharidosis type 1s//mucopolysaccharidosis type i mild form//mucopolysaccharidosis type i-s//mucopolysaccharidosis, mps-i-s//scheie syndrome//scheie disease mps type 1s//scheie syndrome //scheie's syndrome//syndrome, scheie's	IDUA	IDUA	https://raresource.nih.gov/literature/disease/0012561	0012561	607016	93474				alpha-L-iduronidase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Scheie syndrome"	0	0	125
Adult-onset dystonia-parkinsonism	adult-onset dystonia parkinsonism//dystonia-parkinsonism, adult-onset//dystonia parkinsonism paisan-ruiz type//dystonia-parkinsonism adult-onset//dystonia-parkinsonism//dystonia-parkinsonism, paisan-ruiz type//nbia/dyt/park-pla2g6//park14//parkinson disease 14, autosomal recessive//pla2g6 (phospholipase a2 group vi) related dystonia parkinsonism//pla2g6 hereditary late onset parkinson disease//pla2g6-related dystonia-parkinsonism//paisan-ruiz type//parkinson disease 14, autosomal recessive; park14//adult-onset dystonia - parkinsonism//autosomal recessive parkinson disease 14//autosomal recessive parkinson disease type 14//autosomal recessive parkinson's disease 14//hereditary late onset parkinson disease caused by mutation in pla2g6	PLA2G6	PLA2G6	https://raresource.nih.gov/literature/disease/0012568	0012568	612953	199351	C2751842			phospholipase A2 group VI	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Adult-onset dystonia-parkinsonism"	0	0	243
Beta-propeller protein-associated neurodegeneration	beta-propeller protein-associated neurodegeneration//bpan//bpan - beta-propeller protein-associated neurodegeneration//beta-propeller protein-associated neurodegeneration //nbia4//nbia5//neurodegeneration with brain iron accumulation 5//neurodegeneration with brain iron accululation 5//neurodegeneration with brain iron accumulation type 4//neurodegeneration with brain iron accumulation type 5//senda//static encephalopathy of childhood with neurodegeneration in adulthood//static encephalopathy of childhood with neurdegeneration in adulthood//wdr45 neurodegeneration with brain iron accumulation//neurodegeneration with brain iron accumulation 5; nbia5//neurodegeneration with brain iron accumulation caused by mutation in wdr45	WDR45	WDR45	https://raresource.nih.gov/literature/disease/0012570	0012570	300894	329284				WD repeat domain 45	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Beta-propeller protein-associated neurodegeneration"	0	0	113
COASY protein-associated neurodegeneration	coasy protein-associated neurodegeneration//coasy protein-associated neurodegeneration //coasy neurodegeneration with brain iron accumulation//copan//nbia6//neurodegeneration with brain iron accumulation 6//neurodegeneration with brain iron accumulation due to coasy mutation//neurodegeneration with brain iron accumulation 6; nbia6//neurodegeneration with brain iron accumulation caused by mutation in coasy//neurodegeneration with brain iron accumulation type 6	COASY	COASY	https://raresource.nih.gov/literature/disease/0012571	0012571	615643	397725				Coenzyme A synthase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=COASY protein-associated neurodegeneration"	0	0	12
Congenital fibrosis of extraocular muscles	blepharoptosis with absent eye movements//cfeom//cfeom1//cfeom3b//congenital fibrosis syndrome//congenital fibrosis of extraocular muscles (cfeom)//congenital fibrosis of the extraocular muscles//congenital fibrosis of the extraocular muscles (cfeom)//congenital ophthalmoplegia//feom//feom1 locus//fibrosis of extraocular muscles, congenital, 3b//general fibrosis syndrome//kif21a congenital fibrosis of extraocular muscles//ophthalmoplegia, congenital//congenital fibrosis of extraocular muscles//congenital fibrosis of extraocular muscles caused by mutation in kif21a//fibrosis of extraocular muscles, congenital//fibrosis of extraocular muscles, congenital, 1//fibrosis of extraocular muscles, congenital, 1; cfeom1//fibrosis of extraocular muscles, congenital, type 1	TUBB2B;KIF21A;PHOX2A;TUBB3	TUBB2B;KIF21A;PHOX2A;TUBB3	https://raresource.nih.gov/literature/disease/0012590	0012590	609384	45358	C1302995			tubulin beta 2B class IIb;kinesin family member 21A;paired like homeobox 2A;tubulin beta 3 class III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital fibrosis of extraocular muscles"	0	0	225
Hereditary myopathy with early respiratory failure	admerf//distal myopathy with early respiratory muscle involvement//edstrom myopathy//edström myopathy//hereditary myopathy with early respiratory failure//hibm-erf//hmerf//hmerf - hereditary myopathy with early respiratory failure//hmerf-erf//hereditary inclusion body myopathy with early respiratory failure//hereditary proximal myopathy with early respiratory failure//mfm-titinopathy//mfm9//mprm//mprm - myopathy, proximal, with early respiratory muscle involvement//myopathy, distal, with early respiratory failure, autosomal dominant//myopathy, proximal, with early respiratory muscle involvement//myofibrillar myopathy with early respiratory failure//myofibrillar myopathy-titinopathy//autosomal dominant distal myopathy with early respiratory failure//myofibrillar myopathy 9 with early respiratory failure//myopathy, myofibrillar, 9, with early respiratory failure//proximal myopathy with early respiratory muscle involvement	TTN	TTN	https://raresource.nih.gov/literature/disease/0012591	0012591	603689	178464	C1863599			titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary myopathy with early respiratory failure"	0	0	18
Oculopharyngodistal myopathy	opdm//oculopharyngeal distal myopathy//faciooculolaryngopharyngeal myopathy with distal and respiratory involvement//oculopharyngodistal myopathy//oculopharyngodistal myopathy; opdm	GIPC1;NOTCH2NLC	GIPC1;NOTCH2NLC	https://raresource.nih.gov/literature/disease/0012592	0012592	164310	98897	C1834014			GIPC PDZ domain containing family member 1;notch 2 N-terminal like C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Oculopharyngodistal myopathy"	0	0	63
Familial partial lipodystrophy, Köbberling type	fpld1//familial partial lipodystrophy type 1//familial partial lipodystrophy type köbberling//lipodystrophy, familial partial, kobberling type//familial partial lipodystrophy kobberling type//familial partial lipodystrophy, kobberling type//familial partial lipodystrophy, köbberling type//lipodystrophy, familial partial, type 1//lipodystrophy, familial partial, type 1; fpld1	LMNA	LMNA	https://raresource.nih.gov/literature/disease/0012598	0012598	608600	79084	C1720859			lamin A/C	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial partial lipodystrophy, Köbberling type"	0	0	7
PPARG-related familial partial lipodystrophy	fpld3//familial partial lipodystrophy associated with pparg mutations//familial partial lipodystrophy type 3//lipodystrophy, familial partial, associated with pparg mutations//pparg-related fpld//lipodystrophy, familial partial, type 3//lipodystrophy, familial partial, type 3; fpld3	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"	0	0	26
Cardiac-valvular Ehlers-Danlos syndrome	cardiac valvular form of ehlers-danlos syndrome//cardiac valvular form of autosomal recessive ehlers-danlos syndrome//cardiac-valvular eds//cardiac-valvular ehlers-danlos syndrome//eds, cardiac valvular type//edscv//ehlers-danlos syndrome, autosomal recessive, cardiac valvular form//ehlers-danlos syndrome, arthrochalasis type//ehlers-danlos syndrome, cardiac valvular type; edscv//ehlers-danlos syndrome, cardiac valvular type//cveds	COL1A2	COL1A2	https://raresource.nih.gov/literature/disease/0012613	0012613	225320	230851	C1857034			collagen type I alpha 2 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cardiac-valvular Ehlers-Danlos syndrome"	0	0	3
Laurence-Moon syndrome	lnms//laurence moon biedl syndrome//laurence moon syndrome//laurence-moon syndrome; lnms//laurence-moon-biedl syndrome//syndrome, laurence-moon//syndrome, laurence-moon-biedl	PNPLA6	PNPLA6	https://raresource.nih.gov/literature/disease/0012635	0012635	245800	2377	C0023138	D007849		patatin like phospholipase domain containing 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Laurence-Moon syndrome"	0	0	223
Bacterial susceptibility due to TLR signaling pathway deficiency	imd68//immunodeficiency 68//myd88 deficiency//myd88d//myd88 deficiency; myd88d//pyogenic bacterial infections, recurrent, due to myd88 deficiency//pyogenic bacterial infections due to myd88 deficiency//recurrent pyogenic bacterial infections due to myd88 deficiency	MYD88	MYD88	https://raresource.nih.gov/literature/disease/0012638	0012638	612260	183713	C2677092			MYD88 innate immune signal transduction adaptor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bacterial susceptibility due to TLR signaling pathway deficiency"	0	0	126
Lethal congenital contracture syndrome 4	lccs4//mybpc1 lethal congenital contracture syndrome//lethal congenital contracture syndrome 4//lethal congenital contracture syndrome 4; lccs4//lethal congenital contracture syndrome caused by mutation in mybpc1//lethal congenital contracture syndrome type 4	MYBPC1	MYBPC1	https://raresource.nih.gov/literature/disease/0012645	0012645			C3554046			myosin binding protein C1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lethal congenital contracture syndrome 4"	0	0	None
Isolated congenital megalocornea	congenital anterior megalophthalmia//mgc1//mgcn//megalocornea//isolated congenital megalocornea//megalocornea; mgc1	CHRDL1	CHRDL1	https://raresource.nih.gov/literature/disease/0012648	0012648	309300	91489				chordin like 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated congenital megalocornea"	0	0	167
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	lbsl//leukoencephalopathy with brain stem and spinal cord involvement - high lactate//leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation//leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation//leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation //leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome//mitochondrial aspartyl-trna synthetase deficiency//leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome//leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation//leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation; lbsl	DARS2	DARS2	https://raresource.nih.gov/literature/disease/0012652	0012652	611105	137898	C1970180			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"	0	0	49
DOCK2 deficiency	dock2 deficiency//imd40//immunodeficiency 40//immunodeficiency 40; imd40//immunodeficiency type 40	DOCK2	DOCK2	https://raresource.nih.gov/literature/disease/0012653	0012653	616433	447737				dedicator of cytokinesis 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DOCK2 deficiency"	0	0	23
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency//congenital adrenal hyperplasia due to cytochrome por deficiency//disordered steroidogenesis due to por deficiency//disordered steroidogenesis due to cytochrome p450 oxidoreductase//por deficiency//pord//congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency//disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	POR	POR	https://raresource.nih.gov/literature/disease/0012664	0012664	613571	95699				cytochrome p450 oxidoreductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"	0	0	70
X-linked intellectual disability, Najm type	intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia//intellectual developmental disorder, x-linked, syndromic, najm type//intellectual disability and microcephaly with pontine and cerebellar hypoplasia//mental retardation, x-linked, syndromic, najm type//micpch//micpch syndrome//mrxsna//x-linked intellectual disability - microcephaly - pontocerebellar hypoplasia//x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome//intellectual disability and microcephaly with pontine and cerebellar hypoplasia; micpch//intellectual disability, x-linked, syndromic, najm type//mental retardation and microcephaly with pontine and cerebellar hypoplasia//mental retardation and microcephaly with pontine and cerebellar hypoplasia; micpch//microcephaly with pontine and cerebellar hypoplasia//syndromic x-linked intellectual disability najm type	CASK	CASK	https://raresource.nih.gov/literature/disease/0012669	0012669	300749	163937	C2677903			calcium/calmodulin dependent serine protein kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability, Najm type"	0	0	31
Lipoic acid synthetase deficiency	hgclas//hyperglycinemia, lactic acidosis, and seizures//pdhld//pyruvate dehydrogenase lipoic acid synthetase deficiency//hyperglycinemia, lactic acidosis, and seizures; hgclas//lipoic acid synthetase deficiency//pyruvate dehydrogenase lipoic acid synthetase deficiency; pdhld	LIAS	LIAS	https://raresource.nih.gov/literature/disease/0012678	0012678	614462	401859				lipoic acid synthetase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipoic acid synthetase deficiency"	0	0	2
Horizontal gaze palsy with progressive scoliosis	familial horizontal gaze palsy with progressive scoliosis//familial idiopathic scoliosis associated with congenital encephalopathy//familial infantile scoliosis associated with bilateral paralysis of conjugate gaze//gaze palsy, familial horizontal, with progressive scoliosis//gaze palsy, horizontal, with progressive scoliosis//hgpps//hgpps - horizontal gaze palsy with progressive scoliosis//hgpps1//horizontal gaze palsy with progressive scoliosis//ophthalmoplegia, progressive external, and scoliosis//progressive external ophthalmoplegia and scoliosis//gaze palsy, familial horizontal, with progressive scoliosis 1//gaze palsy, familial horizontal, with progressive scoliosis 1; hgpps1//gaze palsy, familial horizontal, with progressive scoliosis; hgpps	DCC;ROBO3	DCC;ROBO3	https://raresource.nih.gov/literature/disease/0012682	0012682	607313	2744	C1846496			DCC netrin 1 receptor;roundabout guidance receptor 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Horizontal gaze palsy with progressive scoliosis"	0	0	45
Cutaneous mastocytoma	cutaneous solitary mastocytoma//cutaneous local mastocytoma//mast cell nevus//mastocytoma of skin//mastocytoma, skin//multiple mastocytoma//skin mastocytoma//skin solitary mastocytoma//solitary mastocytoma of skin//solitary mastocytoma of the skin//solitary cutaneous mastocytoma//solitary mastocytoma//cutaneous mastocytoma	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"	0	0	102
X-linked intellectual disability-hypotonia-movement disorder syndrome	ddx3x non-syndromic x-linked intellectual disability//ddx3x-related intellectual disability//mental retardation, x-linked 102, formerly//mrx102//mrx102, formerly//mrxssb//mental retardation, x-linked 102//intellectual disability, x-linked 102//intellectual disability, x-linked 102; mrx102//intellectual disability, x-linked type 102//mental retardation, x-linked 102; mrx102//mental retardation, x-linked type 102//non-syndromic x-linked intellectual disability caused by mutation in ddx3x	DDX3X	DDX3X	https://raresource.nih.gov/literature/disease/0012715	0012715	300958	457260				DEAD-box helicase 3 X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked intellectual disability-hypotonia-movement disorder syndrome"	0	0	3
Autosomal recessive centronuclear myopathy	ar-cnm//autosomal recessive centronuclear myopathy//bin1 centronuclear myopathy//cnm2//centronuclear myopathy, recessive//myotubular myopathy, autosomal recessive//myopathy, centronuclear, 2//myopathy, centronuclear, autosomal recessive//centronuclear myopathy caused by mutation in bin1//centronuclear myopathy, autosomal recessive//myopathy, centronuclear, type 2	BIN1;RYR1;SPEG;TTN	BIN1;RYR1;SPEG;TTN	https://raresource.nih.gov/literature/disease/0012718	0012718	255200	169186	C0410204			bridging integrator 1;ryanodine receptor 1;striated muscle enriched protein kinase;titin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive centronuclear myopathy"	0	0	11
Autosomal dominant centronuclear myopathy	ad-cnm//cnm1//dnm2-related centronuclear myopathy//myopathy, centronuclear, autosomal dominant//myotubular myopathy, autosomal dominant//myopathy, centronuclear, 1//autosomal dominant centronuclear myopathy//centronuclear myopathy 1//centronuclear myopathy, autosomal dominant//myopathy, centronuclear, 1; cnm1//myopathy, centronuclear, type 1	RYR1;BIN1;MTMR14;DNM2;MYF6	RYR1;BIN1;MTMR14;DNM2;MYF6	https://raresource.nih.gov/literature/disease/0012719	0012719	160150	169189	C1834558			ryanodine receptor 1;bridging integrator 1;myotubularin related protein 14;dynamin 2;myogenic factor 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal dominant centronuclear myopathy"	0	0	41
Familial dyskinesia and facial myokymia	adcy5-related dyskinesia//adcy5-related dyskinesia //dyskinesia, familial, with facial myokymia//fdfm//fdfm - familial dyskinesia and facial myokymia//dyskinesia, familial, with facial myokymia; fdfm//familial dyskinesia and facial myokymia	ADCY5	ADCY5	https://raresource.nih.gov/literature/disease/0012722	0012722	606703	324588	C1847627			adenylate cyclase 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial dyskinesia and facial myokymia"	0	0	21
Periventricular nodular heterotopia	bilateral periventricular nodular heterotopia//familial nodular heterotopia//familial nodular heterotopias//heterotopia, familial nodular//heterotopia, periventricular//heterotopia, periventricular nodular//heterotopia, periventricular, x-linked dominant//heterotopia, x-linked periventricular//nodular heterotopia, bilateral periventricular//nodular heterotopia, familial//nodular heterotopia, periventricular//pvnh//pvnh - periventricular nodular heterotopia//periventricular heterotopia//periventricular heterotopia, x linked//periventricular heterotopia, x-linked//periventricular heterotopias//periventricular nodular heterotopia 1//periventricular nodular heterotopias//periventricular neuronal heterotopia//x-linked periventricular heterotopia//x-linked periventricular heterotopias//periventricular nodular heterotopia	TMTC3;ARFGEF2;ARF1;MAP1B;NEDD4L;FLNA;ERMARD	TMTC3;ARFGEF2;ARF1;MAP1B;NEDD4L;FLNA;ERMARD	https://raresource.nih.gov/literature/disease/0012724	0012724	615544	98892	C1868720	D054091		transmembrane O-mannosyltransferase targeting cadherins 3;ADP ribosylation factor guanine nucleotide exchange factor 2;ADP ribosylation factor 1;microtubule associated protein 1B;NEDD4 like E3 ubiquitin protein ligase;filamin A;ER membrane associated RNA degradation	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Periventricular nodular heterotopia"	0	0	519
Hereditary sensory and autonomic neuropathy type 7	cip with hyperhidrosis and gastrointestinal dysfunction//congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction//hsan 7//hsan vii//hsan with hyperhidrosis and gastrointestinal dysfunction//hsan7//hsan7- hereditary sensory and autonomic neuropathy type 7//hereditary sensory and autonomic neuropathy type vii//hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction//insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis//neuropathy, hereditary sensory and autonomic, type vii//scn11a autosomal dominant hereditary sensory and autonomic neuropathy//autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a//hereditary sensory and autonomic neuropathy type 7//neuropathy, hereditary sensory and autonomic, type 7//neuropathy, hereditary sensory and autonomic, type vii; hsan7	SCN11A	SCN11A	https://raresource.nih.gov/literature/disease/0012732	0012732	615548	391397				sodium voltage-gated channel alpha subunit 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy type 7"	0	0	2
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	aml with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)//aml with inv3(p21;q26.2) or t(3;3)(p21;q26.2)//aml with inv3(q21;q26.2) or t(3;3)(q21;q26.2)//acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)//acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)	MECOM;RPN1	MECOM;RPN1	https://raresource.nih.gov/literature/disease/0012759	0012759		402020				MDS1 and EVI1 complex locus;ribophorin I	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"	0	0	None
Acute myeloid leukaemia with myelodysplasia-related features	aml with multilineage dysplasia//aml with myelodysplasia-related features//aml with myelodysplasia-related features //acute myeloid leukemia with multilineage dysplasia//de novo acute myeloid leukemia with multilineage dysplasia//acute myeloid leukaemia with myelodysplasia-related features	TET2	TET2	https://raresource.nih.gov/literature/disease/0012761	0012761	601626	86845	C1292773			tet methylcytosine dioxygenase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute myeloid leukaemia with myelodysplasia-related features"	0	0	None
Transient myeloproliferative syndrome	leukemia, transient//mst//tam//tmd//transient abnormal myelopoiesis//transient abnormal myelopoiesis associated with down syndrome//transient leukaemia of down syndrome//transient leukemia of down syndrome//transient myeloproliferative disease//transient myeloproliferative disorder//transient myeloproliferative syndrome (disease)//myeloproliferative syndrome, transient//transient leukemia//transient leurkemia of down syndrome//transient myeloproliferative syndrome	GATA1	GATA1	https://raresource.nih.gov/literature/disease/0012765	0012765	159595	420611	C1834582			GATA binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Transient myeloproliferative syndrome"	0	0	5859
Microduplication Xp11.22p11.23 syndrome	chromosome xp11.23-p11.22 duplication syndrome//dup(x)(p11.22p11.23)//microduplication xp11.22-p11.23 syndrome//trisomy xp11.22-p11.23//trisomy xp11.22p11.23	IQSEC2	IQSEC2	https://raresource.nih.gov/literature/disease/0012766	0012766	300801	217377	C2749022			IQ motif and Sec7 domain ArfGEF 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microduplication Xp11.22p11.23 syndrome"	0	0	None
Multiple congenital anomalies-hypotonia-seizures syndrome type 2	dee20//developmental and epileptic encephalopathy 20//eiee20//epileptic encephalopathy, early infantile, 20//early infantile epileptic encephalopathy 20//glycosylphosphatidylinositol biosynthesis defect 4//gpibd4//mcahs type 2//mcahs2//piga multiple congenital anomalies/dysmorphic syndrome-intellectual disability//multiple congenital anomalies-hypotonia-seizures syndrome 2//multiple congenital anomalies-hypotonia-seizures syndrome 2; mcahs2//multiple congenital anomalies-hypotonia-seizures syndrome type 2//multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in piga	PIGA	PIGA	https://raresource.nih.gov/literature/disease/0012777	0012777	300868	300496				phosphatidylinositol glycan anchor biosynthesis class A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple congenital anomalies-hypotonia-seizures syndrome type 2"	0	0	9
Familial retinal arterial macroaneurysm	fram//fram - familial retinal arterial macroaneurysm//ramsvps//ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis//retinal arterial macroaneurysm and supravalvular pulmonic stenosis//retinal arterial macroaneurysm with supravalvular pulmonic stenosis//familial retinal arterial macroaneurysm//retinal arterial macroaneurysm with supravalvular pulmonic stenosis; ramsvps	IGFBP7	IGFBP7	https://raresource.nih.gov/literature/disease/0012779	0012779	614224	284247				insulin like growth factor binding protein 7	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial retinal arterial macroaneurysm"	0	0	8
Multiple congenital anomalies-hypotonia-seizures syndrome	congenital disorder of glycosylation due to pign deficiency//glycosylphosphatidylinositol biosynthesis defect 3//gpibd3//mcahs1//multiple congenital anomalies-hypotonia-seizures syndrome 1//pign multiple congenital anomalies/dysmorphic syndrome-intellectual disability//pign-cdg//multiple congenital anomalies - hypotonia - seizures syndrome//multiple congenital anomalies-hypotonia-seizures syndrome//multiple congenital anomalies-hypotonia-seizures syndrome 1; mcahs1//multiple congenital anomalies-hypotonia-seizures syndrome type 1//multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in pign	PIGN	PIGN	https://raresource.nih.gov/literature/disease/0012781	0012781	614080	280633				phosphatidylinositol glycan anchor biosynthesis class N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multiple congenital anomalies-hypotonia-seizures syndrome"	0	0	23
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	autosomal recessive dystrophic epidermolysis bullosa//autosomal recessive dystrophic epidermolysis bullosa generalisata mitis//autosomal recessive dystrophic epidermolysis bullosa, generalized other//autosomal recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type//generalized rdeb//generalized rdeb, intermediate form//generalized mitis rdeb//rdeb//rdeb generalisata mitis//rdeb, centripetalis//rdeb, generalized intermediate//rdeb, non-hallopeau-siemens type//rdeb-ce//rdeb-ce - recessive dystrophic epidermolysis bullosa centripetalis//rdeb-o//rdeb-generalized other//recessive dystrophic epidermolysis bullosa, generalized intermediate//recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type//recessive dystrophic epidermolysis bullosa-generalized other//centripetal dystrophic epidermolysis bullosa//centripetal recessive dystrophic epidermolysis bullosa//centripetalis recessive dystrophic epidermolysis bullosa//intermediate form//non-hallopeau-siemens type	COL7A1	COL7A1	https://raresource.nih.gov/literature/disease/0012794	0012794		89842				collagen type VII alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"	0	0	460
Dentinogenesis imperfecta type 2	capdepont teeth//dentinogenesis imperfecta without osteogenesis imperfecta//dentinogenesis imperfecta, shields type ii//dgi-2//dgi-ii//dgi1//di-2//dentinogenesis imperfecta//dentinogenesis imperfecta, shields type 2//opalescent dentin//opalescent teeth without osteogenesis imperfecta//shields type 2//dentinogenesis imperfecta 1//dentinogenesis imperfecta 1; dgi1//dentinogenesis imperfecta type 1//dentinogenesis imperfecta type 2	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"	0	0	621
Early-onset autosomal dominant Alzheimer disease	adad//autosomal dominant ad//biparietal variant of alzheimer's disease//eofad//early-onset familial alzheimer disease//early-onset familial autosomal dominant alzheimer disease//early-onset, autosomal dominant alzheimer disease//familial alzheimer disease//early-onset autosomal dominant alzheimer disease	SORL1;PSEN2;TOMM40;TREM2;ABCA7;APP;PSEN1	SORL1;PSEN2;TOMM40;TREM2;ABCA7;APP;PSEN1	https://raresource.nih.gov/literature/disease/0012798	0012798	602096	1020	C0276496			sortilin related receptor 1;presenilin 2;translocase of outer mitochondrial membrane 40;triggering receptor expressed on myeloid cells 2;ATP binding cassette subfamily A member 7;amyloid beta precursor protein;presenilin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Early-onset autosomal dominant Alzheimer disease"	0	0	619
Alzheimer disease 2	late-onset familial alzheimer disease//alzheimer disease associated with apoe4//late-onset	APOE	APOE	https://raresource.nih.gov/literature/disease/0012799	0012799			C1863051			apolipoprotein E	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Alzheimer disease 2"	0	0	174
Proteus-like syndrome		PTEN	PTEN	https://raresource.nih.gov/literature/disease/0012801	0012801	158350	2969	C1866398			phosphatase and tensin homolog	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proteus-like syndrome"	0	0	16
Multisystemic smooth muscle dysfunction syndrome	congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy//msmds//mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy//multisystemic smooth muscle dysfunction syndrome	ACTA2	ACTA2	https://raresource.nih.gov/literature/disease/0012811	0012811	613834	404463				actin alpha 2, smooth muscle	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multisystemic smooth muscle dysfunction syndrome"	0	0	26
8q24.3 microdeletion syndrome	chromosome 8q24.3 deletion syndrome//del(8)(q24.3)//deletion 8q24.3//monosomy 8q24.3//vrjs//verheij syndrome//verheij syndrome; vrjs	PUF60	PUF60	https://raresource.nih.gov/literature/disease/0012814	0012814	615583	508488				poly(U) binding splicing factor 60	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=8q24.3 microdeletion syndrome"	0	0	16
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	gand//gand syndrome//gatad2b-associated neurodevelopmental disorder//mental retardation, autosomal dominant 18//mrd18//autosomal dominant intellectual disability 18//autosomal dominant mental retardation 18//autosomal dominant non-syndromic intellectual disability 18//intellectual disability, autosomal dominant 18//intellectual disability, autosomal dominant 18; mrd18//intellectual disability, autosomal dominant type 18//mental retardation, autosomal dominant 18; mrd18//mental retardation, autosomal dominant type 18//severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GATAD2B	GATAD2B	https://raresource.nih.gov/literature/disease/0012815	0012815	615074	363686				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"	0	0	7
Generalized pustular psoriasis	acrodermatitis continua of hallopeau//acute generalized pustular psoriasis//ditra//deficiency of il-36r antagonist//deficiency of il-36ra//generalized pustular psoriasis//gpp//generalized pustular psoriasis of von zumbusch//il36rn psoriasis//interleukin 36 receptor antagonist deficiency//impetigo herpetiformis//palmoplantar pustulosis//psoriasis 14, pustular//psorp//psors14//pustular psoriasis, generalized//von zumbusch's disease//acrodermatitis continua suppurativa of hallopeau//deficiency of the interleukin-36 receptor antagonist//familial generalized pustular psoriasis//psoriasis 14, pustular; psors14//psoriasis caused by mutation in il36rn	IL36RN;AP1S3	IL36RN;AP1S3	https://raresource.nih.gov/literature/disease/0012819	0012819	616106	247353	C0343055			interleukin 36 receptor antagonist;adaptor related protein complex 1 subunit sigma 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Generalized pustular psoriasis"	0	0	1751
Pustulosis palmaris et plantaris	acropustulosis//lpp//localized pustular psoriasis//ppp//ppp - palmoplantar pustulosis//palmoplantar pustulosis//palmoplantar pustular psoriasis//palmoplantar pustules//palmoplantaris pustulosis//pustular psoriasis of palms and soles//pustular acrodermatitis//pustular psoriasis of the palms and/or soles//pustulosis of palms and soles//recalcitrant pustular eruption of palms and soles//pustulosis of palm and sole//pustulosis palmaris et plantaris	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[]=Pustulosis palmaris et plantaris"	0	0	1725
Severe congenital nemaline myopathy	severe congenital (neonatal) nm//severe congenital nemaline myopathy	KLHL40;ACTA1;LMOD3;NEB;KLHL41	KLHL40;ACTA1;LMOD3;NEB;KLHL41	https://raresource.nih.gov/literature/disease/0012821	0012821	615348	171430				kelch like family member 40;actin alpha 1, skeletal muscle;leiomodin 3;nebulin;kelch like family member 41	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe congenital nemaline myopathy"	0	0	1
Typical nemaline myopathy	typical congenital nemaline myopathy//typical congenital nemaline myopathy //typical nemaline myopathy	TPM2;KLHL41;ACTA1;NEB;LMOD3;CFL2	TPM2;KLHL41;ACTA1;NEB;LMOD3;CFL2	https://raresource.nih.gov/literature/disease/0012822	0012822	616165	171436				tropomyosin 2;kelch like family member 41;actin alpha 1, skeletal muscle;nebulin;leiomodin 3;cofilin 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Typical nemaline myopathy"	0	0	1
Intermediate nemaline myopathy	intermediate congenital nm//intermediate congenital nemaline myopathy//intermediate nemaline myopathy	KLHL41;NEB;ACTA1;TPM3	KLHL41;NEB;ACTA1;TPM3	https://raresource.nih.gov/literature/disease/0012823	0012823	609284	171433				kelch like family member 41;nebulin;actin alpha 1, skeletal muscle;tropomyosin 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intermediate nemaline myopathy"	0	0	None
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	hlts//hypotrichosis lymphedema telangiectasia syndrome//hypotrichosis-lymphedema-telangiectasia syndrome//hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome//hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	SOX18	SOX18	https://raresource.nih.gov/literature/disease/0012827	0012827	137940	69735				SRY-box transcription factor 18	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	0	0	16
High myopia-sensorineural deafness syndrome	dfnmyp//deafness and myopia syndrome//high myopia-sensorineural hearing loss syndrome//deafness and myopia//deafness and myopia; dfnmyp//high myopia-sensorineural deafness syndrome	SLITRK6	SLITRK6	https://raresource.nih.gov/literature/disease/0012844	0012844	221200	363396				SLIT and NTRK like family member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=High myopia-sensorineural deafness syndrome"	0	0	1
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	chops//chops syndrome//chops syndrome; chops//cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia//cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome//cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	AFF4	AFF4	https://raresource.nih.gov/literature/disease/0012845	0012845	616368	444077				AF4/FMR2 family member 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"	0	0	5
Intellectual developmental disorder, autosomal dominant 6, with or without seizures	mental retardation//autosomal dominant 6//with or without seizures	GRIN2B	GRIN2B	https://raresource.nih.gov/literature/disease/0012851	0012851			C3151411			glutamate ionotropic receptor NMDA type subunit 2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 6, with or without seizures"	0	0	22853
Paroxysmal extreme pain disorder	familial rectal pain//familial rectal syndrome//pain, submandibular, ocular, and rectal, with flushing//pepd//pexpd//pain, submandibular, ocular, wnd rectal, with flushing//rectal pain, familial//submandibular, ocular, and rectal pain with flushing//submandibular, ocular and rectal pain with flushing//paroxysmal extreme pain disorder	SCN11A;SCN9A;SCN10A	SCN11A;SCN9A;SCN10A	https://raresource.nih.gov/literature/disease/0012854	0012854	167400	46348	C1833661			sodium voltage-gated channel alpha subunit 11;sodium voltage-gated channel alpha subunit 9;sodium voltage-gated channel alpha subunit 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Paroxysmal extreme pain disorder"	0	0	87
Spinocerebellar ataxia with axonal neuropathy type 2	aoa2//aoa2 - ataxia oculomotor apraxia type 2//ataxia-ocular apraxia 2//ataxia-oculomotor apraxia 2//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-oculomotor apraxia type 2//autosomal recessive cerebellar ataxia with oculomotor apraxia type 2//autosomal recessive spinocerebellar ataxia-1//scan 2//scan2//scar1//scar1 - spinocerebellar ataxia autosomal recessive 1//scar1, formerly//spinocerebellar ataxia, autosomal recessive 1, formerly//spinocerebellar ataxia with axonal neuropathy type 2//spinocerebellar ataxia, recessive, non-friedreich type 1//spinocerebellar ataxia, autosomal recessive 1//spinocerebellar ataxia, autosomal recessive 1; scar1//spinocerebellar ataxia, autosomal recessive type 1//spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	SETX;PIK3R5	SETX;PIK3R5	https://raresource.nih.gov/literature/disease/0012860	0012860	615217	64753				senataxin;phosphoinositide-3-kinase regulatory subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spinocerebellar ataxia with axonal neuropathy type 2"	0	0	135
Acral peeling skin syndrome	acral peeling skin syndrome//apss//acral pss//acral deciduous skin//localized pss//localized deciduous skin//peeling skin syndrome, acral type//pss2//peeling skin syndrome 2//peeling skin syndrome, acral type (subtype)//peeling skin syndrome 2; pss2//peeling skin syndrome type 2	TGM5;CSTA	TGM5;CSTA	https://raresource.nih.gov/literature/disease/0012863	0012863	609796	263534	C1853354			transglutaminase 5;cystatin A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acral peeling skin syndrome"	0	0	54
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	hl deficiency//hepatic lipase deficiency//hyperlipidemia due to hl deficiency//hyperlipidemia due to htgl deficiency//hyperlipidemia due to hepatic lipase deficiency//hyperlipidemia due to hepatic triglyceride lipase deficiency//lipc deficiency//hyperlipidemia due to hepatic triacylglycerol lipase deficiency	LIPC	LIPC	https://raresource.nih.gov/literature/disease/0012864	0012864	614025	140905				lipase C, hepatic type	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"	0	0	63
Cushing disease	corticotroph pituitary adenoma//pituitary corticotroph micro-adenoma//pituitary-dependent cushing syndrome	USP8;CDH23	USP8;CDH23	https://raresource.nih.gov/literature/disease/0012867	0012867	219090	96253	C0221406	D047748		ubiquitin specific peptidase 8;cadherin related 23	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cushing disease"	0	0	773
Isolated childhood apraxia of speech	articulatory apraxia//cas//childhood apraxia of speech//das//developmental apraxia of speech//developmental verbal apraxia//developmental verbal dyspraxia//isolated cas//isolated developmental verbal dyspraxia//pure cas//pure childhood apraxia of speech//spch1//speech and language disorder with orofacial dyspraxia//speech-language disorder type 1//speech-language disorder-1//speech-language disorder 1//speech-language disorder 1; spch1	FOXP2	FOXP2	https://raresource.nih.gov/literature/disease/0012889	0012889	602081	209908				forkhead box P2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Isolated childhood apraxia of speech"	0	0	2230
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	coxpd16//combined oxidative phosphorylation defect type 16//combined oxidative phosphorylation deficiency 16//mrpl44 combined oxidative phosphorylation deficiency//combined oxidative phosphorylation deficiency 16; coxpd16//combined oxidative phosphorylation deficiency caused by mutation in mrpl44//combined oxidative phosphorylation deficiency type 16//infantile hypertrophic cardiomyopathy due to mrpl44 deficiency	MRPL44	MRPL44	https://raresource.nih.gov/literature/disease/0012892	0012892	615395	352563				mitochondrial ribosomal protein L44	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	0	0	None
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	coxpd12//combined oxidative phosphorylation defect type 12//combined oxidative phosphorylation deficiency//ltbl	EARS2	EARS2	https://raresource.nih.gov/literature/disease/0012893	0012893	614924	314051				glutamyl-tRNA synthetase 2, mitochondrial	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"	0	0	29
Developmental and epileptic encephalopathy 4	4//dee4//developmental and epileptic encephalopathy 4//eiee4//epileptic encephalopathy, early infantile, 4//early infantile epileptic encephalopathy 4//epileptic encephalopathy//stxbp1 (syntaxin binding protein 1) epileptic encephalopathy//stxbp1 disorders//stxbp1 early infantile epileptic encephalopathy//stxbp1 encephalopathy with epilepsy//stxbp1-related epileptic encephalopathy//stxbp1-related early-onset encephalopathy//stxbp1-related encephalopathy//syntaxin binding protein 1 encephalopathy with epilepsy//developmental and epileptic encephalopathy, 4//early infantile//early infantile epileptic encephalopathy caused by mutation in stxbp1//epileptic encephalopathy, early infantile, 4; eiee4//epileptic encephalopathy, early infantile, type 4	STXBP1	STXBP1	https://raresource.nih.gov/literature/disease/0012900	0012900			C2677326			syntaxin binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 4"	0	0	3036
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	pmse//pmse syndrome//polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome//pretzel syndrome//polyhydramnios, megalencephaly, and symptomatic epilepsy//polyhydramnios, megalencephaly, and symptomatic epilepsy; pmse//polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	STRADA	STRADA	https://raresource.nih.gov/literature/disease/0012913	0012913	611087	500533				STE20 related adaptor alpha	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"	0	0	13
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	amcbx1//atypical mycobacterial infection, disseminated, x-linked 1//atypical mycobacterial infection, familial disseminated, x-linked 1//familial x-linked 1 atypical mycobacteriosis//ikbkg x-linked mendelian susceptibility to mycobacterial diseases//ikbkg invasive pneumococcal disease, recurrent isolated//imd33//immunodeficiency 33//invasive pneumococcal disease, recurrent isolated, 2, formerly//ipd2//ipd2, formerly//invasive pneumococcal disease, recurrent isolated, 2//mycobacterial disease, susceptibility to, x-linked 1//nemo deficiency syndrome//nf-kappa b essential modulator deficiency//x-linked msmd due to ikbkg deficiency//x-linked msmd due to nemo deficiency//x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in ikbkg//x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency//atypical mycobacteriosis, familial, x-linked 1//immunodeficiency 33, mycobacteriosis, x-linked//immunodeficiency type 33//invasive pneumococcal disease, recurrent isolated caused by mutation in ikbkg//invasive pneumococcal disease, recurrent isolated, 2; ipd2//invasive pneumococcal disease, recurrent isolated, type 2	IKBKG	IKBKG	https://raresource.nih.gov/literature/disease/0012915	0012915	300636	319612				inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"	0	0	3
Rh deficiency syndrome	rh deficiency syndrome//rh-mod//rh-null disease, regulator type//rh-null hemolytic anemia, regulator type//rh-null, regulator type//rh-null, regulator type; rhn//rh-null, regulator type; rhnr//rhn//rhnr//rh-null disease//rh-null syndrome	RHAG;RHCE;RHD	RHAG;RHCE;RHD	https://raresource.nih.gov/literature/disease/0012916	0012916	617970	71275	C0272052			Rh associated glycoprotein;Rh blood group CcEe antigens;Rh blood group D antigen	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Rh deficiency syndrome"	0	0	20
Malignant migrating focal seizures of infancy	eiee14//early infantile epileptic encephalopathy 14//epilepsy of infancy with migrating focal seizures//mmpei//mmpsi//mpei//mpsi//malignant migrating partial epilepsy of infancy//malignant migrating partial seizures of infancy//migrating partial epilepsy of infancy//migrating partial seizures in infancy//migrating partial seizures of infancy//malignant migrating partial seizures in infancy	SLC12A5;SCN1A;SLC25A22;KCNQ2;TBC1D24;PIGA;SCN2A;KCNT1;PLCB1	SLC12A5;SCN1A;SLC25A22;KCNQ2;TBC1D24;PIGA;SCN2A;KCNT1;PLCB1	https://raresource.nih.gov/literature/disease/0012919	0012919	613722	293181				solute carrier family 12 member 5;sodium voltage-gated channel alpha subunit 1;solute carrier family 25 member 22;potassium voltage-gated channel subfamily Q member 2;TBC1 domain family member 24;phosphatidylinositol glycan anchor biosynthesis class A;sodium voltage-gated channel alpha subunit 2;potassium sodium-activated channel subfamily T member 1;phospholipase C beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Malignant migrating focal seizures of infancy"	0	0	117
ADNP syndrome	adnp-related disorders//adnp-related multiple congenital anomalies - intellectual disability - autism spectrum disorder//adnp-related multiple congenital anomalies, intellectual disability, autism spectrum disorder//adnp-related syndromic intellectual disability-autism spectrum disorder//activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder//hvdas//helsmoortel-van der aa syndrome//helsmoortel-van der aa syndrome; hvdas//mental retardation, autosomal dominant 28//mrd28//autosomal dominant intellectual disability 28//autosomal dominant mental retardation 28//intellectual disability, autosomal dominant 28	ADNP	ADNP	https://raresource.nih.gov/literature/disease/0012931	0012931	615873	404448				activity dependent neuroprotector homeobox	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=ADNP syndrome"	0	0	60
X-linked hypophosphatemia	generalized resistance to 1,25 dihydroxyvitamin d//generalized resistance to 1,25-dihydroxyvitamin d//hpdr//hyp//hypophosphatemia, x-linked//hypophosphatemic vitamin d-resistant rickets//hereditary hypophosphatemic rickets//hereditary vitamin d resistant rickets//hereditary vitamin d-resistant rickets//hypocalcemic vitamin d resistant rickets//hypocalcemic vitamin d-resistant rickets//hypophophatemia, x-linked//hypophophatemic vitamin d-resistant rickets//hypophosphatemia, vitamin d-resistant rickets//hypophosphatemia, x linked//hypophosphatemic rickets, familial//hypophosphatemic rickets, hereditary//hypophosphatemic rickets, x linked dominant//hypophosphatemic rickets, x linked recessive//hypophosphatemic rickets, x-linked//hypophosphatemic rickets, x-linked dominant//hypophosphatemic rickets, x-linked recessive//rickets, familial hypophosphatemic//rickets, hereditary hypophosphatemic//rickets, hereditary vitamin d resistant//rickets, hereditary vitamin d-resistant//rickets, x-linked hypophosphatemic//vitamin d-resistant rickets, x-linked//vitamin d resistant rickets with end organ unresponsiveness to 1,25 dihydroxycholecalciferol//vitamin d resistant rickets, hereditary//vitamin d resistant rickets, x linked//vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol//vitamin d-resistant rickets, hereditary//x linked hypophosphatemia//x-linked hypophosphatemia//x-linked hypophosphatemic rickets//x-linked dominant hypophosphatemic rickets//x-linked hereditary hypophosphatemic rickets//x-linked hypophosphatemic rickets (recessive or dominant)//xlh//xlhr//hereditary hypophosphatemic rickets, x-linked//hypophosphatemic rickets x-linked dominant//hypophosphatemic rickets, x-linked dominant; xlhr//rickets, vitamin d-resistant	PHEX	PHEX	https://raresource.nih.gov/literature/disease/0012943	0012943	307800	89936	C0733682			phosphate regulating endopeptidase homolog X-linked	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=X-linked hypophosphatemia"	0	0	1427
C1q deficiency	c1q deficiency//c1qd//c1q deficiency; c1qd	C1QC;C1QA;C1QB	C1QC;C1QA;C1QB	https://raresource.nih.gov/literature/disease/0012958	0012958		169147	C3150902			complement C1q C chain;complement C1q A chain;complement C1q B chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=C1q deficiency"	0	0	107
MEGDEL syndrome	3-@methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome//3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome//3-methylglutaconic aciduria, type vi//3-mgca type iv (formerly)//3-mgca-4 (formerly)//3-methylglutaconic aciduria, type 6//3-methylglutaconic aciduria caused by mutation in serac1//3-methylglutaconic aciduria type 6//3-methylglutaconic aciduria type vi//3-methylglutaconic aciduria with deafness - encephalopathy - leigh-like syndrome//3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome//3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome; megdel//3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome//3-methylglutaconic aciduria with hearing loss-encephalopathy-leigh-like syndrome//megdel//megdhel//mgca6//serac1 3-methylglutaconic aciduria//serac1 defect	SERAC1	SERAC1	https://raresource.nih.gov/literature/disease/0012963	0012963	614739	352328				serine active site containing 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEGDEL syndrome"	0	0	40
Dilated cardiomyopathy with ataxia	3 alpha methylglutaconic aciduria type v//3 methylglutaconic aciduria type v//3-@methylglutaconic aciduria, type v//3-methylglutaconic aciduria, type v//3-methylglutaconic aciduria, type v; mgca5//3-methylglutaconic aciduria type 5//3-methylglutaconic aciduria, type 5//3-methylglutaconic aciduria caused by mutation in dnajc19//3-methylglutaconic aciduria type v//cardiomyopathy, dilated, with ataxia//dcma//dcma syndrome//dnajc19 3-methylglutaconic aciduria//dilated cardiomyopathy with ataxia syndrome//mga 5//mga v//mga, type v//mga5//mgca5//mga, type 5//dilated cardiomyopathy with ataxia	DNAJC19	DNAJC19	https://raresource.nih.gov/literature/disease/0012964	0012964	610198	66634	C1857776			DnaJ heat shock protein family (Hsp40) member C19	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Dilated cardiomyopathy with ataxia"	0	0	23
Proximal myopathy with extrapyramidal signs	mpxps//myopathy with extrapyramidal signs//myopathy with extrapyramidal signs; mpxps//proximal myopathy with extrapyramidal signs	MICU1	MICU1	https://raresource.nih.gov/literature/disease/0012978	0012978	615673	401768				mitochondrial calcium uptake 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Proximal myopathy with extrapyramidal signs"	0	0	3
Hereditary folate malabsorption	congenital folate malabsorption//congenital defect of folate absorption//congenital malabsorption of folic acid//folate malabsorption, hereditary//folate transport defect//folic acid transport defect//hereditary folate malabsorption	SLC46A1	SLC46A1	https://raresource.nih.gov/literature/disease/0012983	0012983	229050	90045	C0342705			solute carrier family 46 member 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary folate malabsorption"	0	0	75
Aquagenic palmoplantar keratoderma	aquagenic palmoplantar keratoderma//aquagenic keratoderma//aquagenic syringeal acrokeratoderma//aquagenic wrinkling of the hands//aquagenic wrinkling of the palms//transient reactive papulotranslucent acrokeratoderma	CFTR	CFTR	https://raresource.nih.gov/literature/disease/0012991	0012991		498359				CF transmembrane conductance regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Aquagenic palmoplantar keratoderma"	0	0	136
Hemoglobin M disease	autosomal dominant methemoglobinemia//blue baby syndrome//hereditary m hemoglobinopathy//hereditary methemoglobinemia due to globin chain mutation//hereditary methemoglobinemia due to hemoglobin mutation//hereditary methemoglobinuria//m hemoglobinopathy//methemoglobinemia, beta-globin type//hemoglobin m disease	HBA2;HBB;HBA1	HBA2;HBB;HBA1	https://raresource.nih.gov/literature/disease/0013007	0013007	617971	330041				hemoglobin subunit alpha 2;hemoglobin subunit beta;hemoglobin subunit alpha 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hemoglobin M disease"	0	0	35
Obesity due to congenital leptin deficiency	lepd//leptin deficiency//leptin deficiency or dysfunction//obesity, morbid//obesity, morbid, nonsyndromic 1//leptin deficiency or dysfunction; lepd//morbid obesity//obesity due to congenital leptin deficiency	LEP	LEP	https://raresource.nih.gov/literature/disease/0013015	0013015	614962	66628				leptin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Obesity due to congenital leptin deficiency"	0	0	9710
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	autosomal recessive early-onset ibd//autosomal recessive early-onset inflammatory bowel disease//ibd25//il10-related early-onset ibd//il10-related early-onset inflammatory bowel disease//il10rb inflammatory bowel disease//inflammatory bowel disease, early-onset, autosomal recessive//early onset autosomal recessive inflammatory bowel disease 25//inflammatory bowel disease 25//inflammatory bowel disease 25, autosomal recessive//inflammatory bowel disease 25, autosomal recessive; ibd25//inflammatory bowel disease caused by mutation in il10rb//inflammatory bowel disease type 25	IL10RA;IL10RB;IL10	IL10RA;IL10RB;IL10	https://raresource.nih.gov/literature/disease/0013016	0013016	612567	238569				interleukin 10 receptor subunit alpha;interleukin 10 receptor subunit beta;interleukin 10	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"	0	0	None
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	echs1//echs1d//mitochondrial short-chain enoyl-coa hydratase-1 deficiency//mitochondrial short-chain enoyl-coa hydratase 1 deficiency//pxmd-echs1//short-chain enoyl-coa hydratase deficiency//mitochondrial short-chain enoyl-coa hydratase 1 deficiency; echs1d	ECHS1	ECHS1	https://raresource.nih.gov/literature/disease/0013019	0013019			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"	0	0	20
Woolly hair nevus	epidermal naevus//epidermal nevus//nevus sebaceous//nevus, keratinocytic, nonepidermolytic//nevus, woolly hair//nevus, epidermal//wooly hair nevus//nonepidermolytic keratinocytic nevus	HRAS	HRAS	https://raresource.nih.gov/literature/disease/0013025	0013025	162900	79414	C0343114			HRas proto-oncogene, GTPase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Woolly hair nevus"	0	0	449
Deafness-lymphedema-leukemia syndrome	deafness - lymphedema - leukemia syndrome//emberger syndrome//hearing loss-lymphedema-leukemia syndrome//lymphedema, primary, with myelodysplasia//primary lymphedema with myelodysplasia//deafness-lymphedema-leukemia syndrome	GATA2	GATA2	https://raresource.nih.gov/literature/disease/0013030	0013030	614038	3226				GATA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Deafness-lymphedema-leukemia syndrome"	0	0	28
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	cdcbm1//cortical dysplasia, complex, with other brain malformations 1//tubb3 complex cortical dysplasia with other brain malformations//complex cortical dysplasia with other brain malformations 1//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//cortical dysplasia, complex, with other brain malformations 1; cdcbm1	TUBB3	TUBB3	https://raresource.nih.gov/literature/disease/0013032	0013032	614039	300570				tubulin beta 3 class III	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"	0	0	1
Thrombophilia due to protein c deficiency, autosomal recessive	autosomal recessive hereditary thrombophilia due to protein c deficiency//autosomal recessive protein c deficiency//autosomal recessive thrombophilia due to pc deficiency//autosomal recessive thrombophilia due to congenital protein c deficiency//hereditary thrombophilia due to pc deficiency//hereditary thrombophilia due to congenital protein c deficiency//proc deficiency, autosomal recessive//protein c deficiency, autosomal recessive//protein c deficiency//severe hereditary thrombophilia due to congenital protein c deficiency//thph4//thrombophilia due to protein c deficiency, autosomal recessive//thrombophilia, hereditary, due to protein c deficiency, autosomal recessive//autosomal recessive//proc deficiency//thrombophilia due to protein c deficiency, autosomal recessive; thph4	PROC	PROC	https://raresource.nih.gov/literature/disease/0013041	0013041			C2676759			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"	0	0	1368
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	autosomal dominant intellectual disability-17//intellectual developmental disorder, autosomal dominant 17//mental retardation, autosomal dominant 17//mrd17//pacs1-related syndrome//shms//schuurs-hoeijmakers syndrome//schuurs-hoeijmakers syndrome; shms//autosomal dominant intellectual disability 17//autosomal dominant mental retardation 17//intellectual disability, autosomal dominant 17//intellectual disability, autosomal dominant 17; mrd17//intellectual disability, autosomal dominant type 17//intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome//mental retardation, autosomal dominant 17; mrd17//mental retardation, autosomal dominant type 17	PACS1	PACS1	https://raresource.nih.gov/literature/disease/0013043	0013043	615009	329224				phosphofurin acidic cluster sorting protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome"	0	0	31
Congenital analbuminemia	analba//analbuminemia//analbuminemia; analba//congenital analbuminemia	ALB	ALB	https://raresource.nih.gov/literature/disease/0013056	0013056	616000	86816				albumin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital analbuminemia"	0	0	155
KCNQ2-related epileptic encephalopathy	dee7//developmental and epileptic encephalopathy 7//eiee7//epileptic encephalopathy, early infantile, 7//kcnq2-nee//kcnq2-related disorders//kcnq2-related neonatal epileptic encephalopathy//developmental and epileptic encephalopathy, 7//early infantile epileptic encephalopathy 7//epileptic encephalopathy, early infantile, 7; eiee7//epileptic encephalopathy, early infantile, type 7	KCNQ2	KCNQ2	https://raresource.nih.gov/literature/disease/0013060	0013060	613720	439218				potassium voltage-gated channel subfamily Q member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=KCNQ2-related epileptic encephalopathy"	0	0	14
Primary hypomagnesemia with secondary hypocalcemia	familial primary hypomagnesemia with hypocalcuria//homg//homg1//hsh//hypomagnesemia with secondary hypocalcemia//hypomagnesemia, intestinal, with secondary hypocalcemia//hypomagnesemic tetany//hypomagnesemia caused by selective magnesium malabsorption//hypomagnesemia intestinal type 1//intestinal hypomagnesemia with secondary hypocalcemia//phsh//trpm6 familial primary hypomagnesemia//trpm6 primary hypomagnesemia//familial primary hypomagnesemia caused by mutation in trpm6//hypomagnesemia 1, intestinal//hypomagnesemia 1, intestinal; homg1//intestinal hypomagnesemia 1//intestinal hypomagnesemia type 1//primary hypomagnesemia caused by mutation in trpm6//primary hypomagnesemia with secondary hypocalcemia	TRPM6	TRPM6	https://raresource.nih.gov/literature/disease/0013072	0013072	602014	30924	C1865974			transient receptor potential cation channel subfamily M member 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Primary hypomagnesemia with secondary hypocalcemia"	0	0	68
Nevus comedonicus syndrome	follicular nevus//nc//nevus comedonicus; nc//nevus comedonicus//acne nevus//acneiform nevus//comedo nevus//nevus comedonicus syndrome//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"	0	0	1593
Developmental and epileptic encephalopathy 13	13//dee13//developmental and epileptic encephalopathy 13//eiee13//epileptic encephalopathy, early infantile, 13//early infantile epileptic encephalopathy 13//early infantile epileptic encephalopathy-13//epileptic encephalopathy//scn8a (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy//scn8a early infantile epileptic encephalopathy//scn8a encephalopathy//scn8a epilepsy//scn8a-related epilepsy//scn8a-related epilepsy with encephalopathy//sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy//developmental and epileptic encephalopathy, 13//early infantile//early infantile epileptic encephalopathy caused by mutation in scn8a//epileptic encephalopathy, early infantile, 13; eiee13//epileptic encephalopathy, early infantile, type 13	SCN8A	SCN8A	https://raresource.nih.gov/literature/disease/0013085	0013085			C3281191			sodium voltage-gated channel alpha subunit 8	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 13"	0	0	2191
Corticosteroid-binding globulin deficiency	cbg deficiency//corticosteroid-binding globulin, elevated//transcortin deficiency//corticosteroid-binding globulin 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"	0	0	26
MIRAGE syndrome	mirage//myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy//myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome//myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome//mirage syndrome	SAMD9	SAMD9	https://raresource.nih.gov/literature/disease/0013108	0013108	617053	494433				sterile alpha motif domain containing 9	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MIRAGE syndrome"	0	0	50
Ataxia-oculomotor apraxia type 4	aoa4//ataxia with oculomotor apraxia type 4//ataxia-oculomotor apraxia-4//pnkp oculomotor apraxia or related oculomotor disease//ataxia - oculomotor apraxia type 4//ataxia-oculomotor apraxia 4//ataxia-oculomotor apraxia 4; aoa4//oculomotor apraxia or related oculomotor disease caused by mutation in pnkp	PNKP	PNKP	https://raresource.nih.gov/literature/disease/0013111	0013111	616267	459033				polynucleotide kinase 3'-phosphatase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-oculomotor apraxia type 4"	0	0	19
Ataxia-oculomotor apraxia 3	aoa3//aaxia-oculomotor apraxia-3//ataxia with oculomotor apraxia type 3//ataxia-oculomotor apraxia 3//ataxia-oculomotor apraxia 3; aoa3//ataxia-oculomotor apraxia type 3//ataxia-oculomotor apraxia-3	PIK3R5	PIK3R5	https://raresource.nih.gov/literature/disease/0013112	0013112			C3554690			phosphoinositide-3-kinase regulatory subunit 5	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Ataxia-oculomotor apraxia 3"	0	0	None
Infantile liver failure syndrome 2	fever-associated acute infantile liver failure syndrome//ilfs2//ilfs3//infantile liver failure syndrome 3; ilfs3//infantile liver failure syndrome//nbas infantile liver failure//infantile liver failure//infantile liver failure caused by mutation in nbas//infantile liver failure syndrome 2//infantile liver failure syndrome 2; ilfs2//infantile liver failure syndrome type 2//liver failure, infantile	NBAS	NBAS	https://raresource.nih.gov/literature/disease/0013113	0013113			C3809651			NBAS subunit of NRZ tethering complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile liver failure syndrome 2"	0	0	38
Acute infantile liver failure-multisystemic involvement syndrome	ilfs1//infantile liver failure syndrome 1//lars infantile liver failure//acute infantile liver failure - multisystemic involvement syndrome//infantile liver failure caused by mutation in lars//infantile liver failure syndrome 1; ilfs1//infantile liver failure syndrome type 1	LARS1	LARS1	https://raresource.nih.gov/literature/disease/0013114	0013114	615438	370088				leucyl-tRNA synthetase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Acute infantile liver failure-multisystemic involvement syndrome"	0	0	11
Intellectual developmental disorder, autosomal dominant 30	autosomal dominant intellectual disability 30//mrd30//mental retardation//zmynd11 intellectual disability-expressive aphasia-facial dysmorphism syndrome//autosomal dominant 30//autosomal dominant mental retardation 30//autosomal dominant non-syndromic intellectual disability 30//intellectual disability, autosomal dominant 30//intellectual disability, autosomal dominant 30; mrd30//intellectual disability, autosomal dominant type 30//intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in zmynd11//mental retardation, autosomal dominant 30//mental retardation, autosomal dominant 30; mrd30//mental retardation, autosomal dominant type 30	ZMYND11	ZMYND11	https://raresource.nih.gov/literature/disease/0013136	0013136			C4015167			zinc finger MYND-type containing 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 30"	0	0	22853
CHST3-related skeletal dysplasia	chst3 type//chondrodysplasia with congenital joint dislocations//sdcd//spondyloepiphyseal dysplasia with congenital joint dyslocations	CHST3	CHST3	https://raresource.nih.gov/literature/disease/0013169	0013169	143095	263463	C2931649			carbohydrate sulfotransferase 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CHST3-related skeletal dysplasia"	0	0	10
S-adenosylhomocysteine hydrolase deficiency	deficiency of s-adenosylhomocysteine hydrolase//hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency//hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase//psychomotor delay due to s-adenosylhomocysteine hydrolase deficiency//psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency//s-adenosylhomocysteine hydrolase deficiency//hypermethioninemia with 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[]=S-adenosylhomocysteine hydrolase deficiency"	0	0	25
Intellectual developmental disorder, autosomal dominant 43	autosomal dominant intellectual disability-43//hivep2 autosomal dominant non-syndromic intellectual disability//hivep2-related intellectual disability//mrd43//autosomal dominant intellectual disability 43//autosomal dominant mental retardation 43//autosomal dominant non-syndromic intellectual disability 43//autosomal dominant non-syndromic intellectual disability caused by mutation in hivep2//intellectual disability, autosomal dominant 43//intellectual disability, autosomal dominant 43; mrd43//intellectual disability, autosomal dominant type 43//mental retardation, autosomal dominant 43//mental retardation, autosomal dominant 43; mrd43//mental retardation, autosomal dominant type 43	HIVEP2	HIVEP2	https://raresource.nih.gov/literature/disease/0013179	0013179			C4310771			HIVEP zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 43"	0	0	None
Developmental and epileptic encephalopathy 94	chchd10-related disorders//chd2 encephalopathy//chd2 myoclonic encephalopathy//chd2-related neurodevelopmental disorders//childhood-onset epileptic encephalopathy//dee94//eeoc//epileptic encephalopathy, childhood-onset//epileptic encephalopathy//childhood onset epileptic encephalopathy//childhood-onset//epileptic encephalopathy, childhood-onset; eeoc	CHD2	CHD2	https://raresource.nih.gov/literature/disease/0013197	0013197			C3809278			chromodomain helicase DNA binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 94"	0	0	1783
Infantile-onset periodic fever-panniculitis-dermatosis syndrome	aipds//autoinflammation, panniculitis, and dermatosis syndrome; aipds//autoinflammation, panniculitis, and 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//autoinflammation, panniculitis and dermatosis syndrome//infantile-onset periodic fever-panniculitis-dermatosis syndrome	OTULIN	OTULIN	https://raresource.nih.gov/literature/disease/0013198	0013198	617099	500062				OTU deubiquitinase with linear linkage specificity	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile-onset periodic fever-panniculitis-dermatosis syndrome"	0	0	29
Cystic leukoencephalopathy without megalencephaly	clwm//leukoencephalopathy, cystic, without megalencephaly//rnase t2-deficient leukoencephalopathy//cystic leukoencephalopathy without megalencephaly	RNASET2;NDUFA2	RNASET2;NDUFA2	https://raresource.nih.gov/literature/disease/0013199	0013199	612951	85136	C2751843	C567845		ribonuclease T2;NADH:ubiquinone oxidoreductase subunit A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Cystic leukoencephalopathy without megalencephaly"	0	0	None
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	encephalomyopathic type with renal tubulopathy//mitochondrial dna depletion syndrome 8b (mngie type)//mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive//mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related//mngie, rrm2b-related//mtdps8a//mtdps8b//mitochondrial dna depletion syndrome 8a//rrm2b mitochondrial dna depletion syndrome//rrm2b-related mitochondrial dna depletion syndrome//rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy//encephalomyopathic form with renal tubulopathy//mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)//mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy); mtdps8a//mitochondrial dna depletion syndrome caused by mutation in rrm2b//mitochondrial dna depletion syndrome type 8a//mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy//mtdna depletion syndrome//mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy	RRM2B	RRM2B	https://raresource.nih.gov/literature/disease/0013200	0013200	612075	255235				ribonucleotide reductase regulatory TP53 inducible subunit M2B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"	0	0	59
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	ca-va deficiency//ca5ad//carbonic anhydrase va deficiency//hyperammonemia due to carbonic anhydrase va deficiency//mitochondrial carbonic anhydrase va deficiency//carbonic anhydrase 5a deficiency, hyperammonemia due to//carbonic anhydrase va deficiency, hyperammonemia due to//carbonic anhydrase va deficiency, hyperammonemia due to; ca5ad//hyperammonemic encephalopathy due to carbonic anhydrase va deficiency	CA5A	CA5A	https://raresource.nih.gov/literature/disease/0013201	0013201	615751	401948				carbonic anhydrase 5A	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	0	0	13
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	3-hydroxyisobutyryl-coa hydrolase deficiency//3-hydroxyisobutyryl-coa hydrolase deficiency; hibchd//beta-hydroxyisobutyryl coa deacylase deficiency//beta-hydroxyisobutyryl-coa deacylase deficiency//hibch deficiency//hibchd//methacrylic acid toxicity//methacrylic aciduria//valine metabolic defect//neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency	HIBCH	HIBCH	https://raresource.nih.gov/literature/disease/0013202	0013202	250620	88639	C0342738			3-hydroxyisobutyryl-CoA hydrolase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"	0	0	25
2q32q33 microdeletion syndrome	2q32-q33 microdeletion syndrome//2q32q33 microdeletion syndromes//2q33.1 deletion syndrome//chromosome 2q32-q33 deletion syndrome//del(2)(q32)//del(2)(q32q33)//glass//glass syndrome//monosomy 2q32//monosomy 2q32-q33//monosomy 2q32q33//sas//satb2 syndrome//satb2-associated syndrome//glass syndrome; glass	SATB2	SATB2	https://raresource.nih.gov/literature/disease/0013206	0013206	612313	251019	C2676739			SATB homeobox 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=2q32q33 microdeletion syndrome"	0	0	1685
Pituitary stalk interruption syndrome	ectopic neurohypophysis//psis//hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary//pituitary stalk interruption syndrome	HESX1;LHX4;WDR11;GPR161;PROKR2;ROBO1;CDON	HESX1;LHX4;WDR11;GPR161;PROKR2;ROBO1;CDON	https://raresource.nih.gov/literature/disease/0013209	0013209		95496				HESX homeobox 1;LIM homeobox 4;WD repeat domain 11;G protein-coupled receptor 161;prokineticin receptor 2;roundabout guidance receptor 1;cell adhesion associated, oncogene regulated	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Pituitary stalk interruption syndrome"	0	0	215
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis//hereditary sclerosing poikiloderma with tendon and pulmonary involvement//poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement//poiktmp//poiktmp syndrome//poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis//hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome//poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis; poiktmp	FAM111B	FAM111B	https://raresource.nih.gov/literature/disease/0013218	0013218	615704	221043				FAM111 trypsin like peptidase B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"	0	0	15
BAP1-related tumor predisposition syndrome	bap1 tumor predisposition syndrome//bap1-tpds//common syndrome//cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms//tpds//tumor predisposition syndrome//tumor susceptibility linked to germline bap1 mutations//tumor predisposition syndrome; tpds	BAP1	BAP1	https://raresource.nih.gov/literature/disease/0013219	0013219	614327	289539				BRCA1 associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BAP1-related tumor predisposition syndrome"	0	0	150
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	iqsec2//iqsec2-related epilepsy//iqsec2-related intellectual disability//iqsec2-related syndromic intellectual disability//mental retardation, x-linked 18//mental retardation, x-linked 78//mrx//mrx1//mrx18//mrx78//x-linked intellectual disability 1//x-linked intellectual disability 1/78//x-linked intellectual disability 78//mental retardation, x-linked 1//mental retardation, x-linked 1; mrx1//mental retardation, x-linked 78; mrx78//mental retardation, x-linked type 1	IQSEC2	IQSEC2	https://raresource.nih.gov/literature/disease/0013221	0013221		397933				IQ motif and Sec7 domain ArfGEF 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"	0	0	82
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures//autosomal dominant spinal muscular atrophy, lower extremity-predominant 2//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 2, autosomal dominant//spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant//spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant; smaled2	BICD2	BICD2	https://raresource.nih.gov/literature/disease/0013222	0013222	615290	363454				BICD cargo adaptor 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"	0	0	15
Familial acute necrotizing encephalopathy	adane//ane1//acute necrotizing encephalopathy type 1//autosomal dominant acute necrotizing encephalopathy//iiae3//infection-induced acute encephalopathy 3//postinfectious acute necrotizing hemorrhagic encephalopathy//recurrent acute necrotizing encephalopathy//susceptibility to infection-induced acute encephalopathy 3//susceptibility to acute infection-induced encephalopathy-3//susceptibility to acute necrotizing encephalopathy//encephalopathy, acute necrotizing, susceptibility to//encephalopathy, acute, infection-induced, susceptibility to, 3//encephalopathy, acute, infection-induced, susceptibility to, 3; iiae3//encephalopathy, acute, infection-induced, susceptibility to, type 3//familial acute necrotizing encephalopathy	RANBP2	RANBP2	https://raresource.nih.gov/literature/disease/0013232	0013232	608033	88619				RAN binding protein 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial acute necrotizing encephalopathy"	0	0	25
Microphthalmia, syndromic 12	mcops12//microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects//microphthalmia with or without pulmonary hypoplasia//rarb syndromic microphthalmia//syndromic microphthalmia-12//and/or cardiac defects//diaphragmatic hernia//microphthalmia, syndromic 12//microphthalmia, syndromic 12; mcops12//microphthalmia, syndromic type 12//syndromic microphthalmia caused by mutation in rarb	RARB	RARB	https://raresource.nih.gov/literature/disease/0013235	0013235			C3809803			retinoic acid receptor beta	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Microphthalmia, syndromic 12"	0	0	3165
X-linked intellectual disability, Cabezas type	cabezas syndrome//cul4b-related x-linked intellectual disability//cabezas x-linked mental retardation syndrome//cabezas syndrome; syndromic x-linked intellectual disability 15//cabezas syndrome; syndromic x-linked mental retardation 15//cabezas type of x-linked syndromic intellectual disability//intellectual developmental disorder, x-linked, syndromic, cabezas type//intellectual disability, x-linked, syndromic 15//mental retardation, x-linked, syndromic 15//mental retardation, x-linked, with brachydactyly and macroglossia//mental retardation, x-linked, with short stature//mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait//mrss//mrxs15//mrxsc//mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor//mental retardation with short stature, hypogonadism and abnormal gait, x-linked//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//intellectual disability, x-linked, syndromic 15 (cabezas type)//intellectual disability, x-linked, syndromic, cabezas type//intellectual disability, x-linked, syndromic, cabezas type; mrxsc//intellectual disability, x-linked, with short stature//intellectual disability, x-linked, with short stature, hypogonadism, and abnormal gait//mental retardation, x-linked, syndromic 15 (cabezas type)//mental retardation, x-linked, syndromic, cabezas type//mental retardation, x-linked, syndromic, cabezas type; mrxsc//syndromic x-linked intellectual disability cabezas type	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"	0	0	11
Bainbridge-Ropers syndrome	severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome	ASXL3	ASXL3	https://raresource.nih.gov/literature/disease/0013259	0013259	615485	352577				ASXL transcriptional regulator 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bainbridge-Ropers syndrome"	0	0	37
Infantile cerebellar-retinal degeneration	icrd//infantile cerebellar and retinal degeneration//infantile cerebellar retinal degeneration//mitochondrial aconitase deficiency//infantile cerebellar-retinal degeneration//infantile cerebellar-retinal degeneration; icrd	ACO2	ACO2	https://raresource.nih.gov/literature/disease/0013264	0013264	614559	313850				aconitase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Infantile cerebellar-retinal degeneration"	0	0	12
Phosphoserine aminotransferase deficiency, infantile/juvenile form	deficiency of phosphoserine aminotransferase//psat deficiency//psat deficiency, infantile/juvenile form//psatd//phosphoserine aminotransferase deficiency//infantile/juvenile form//phosphoserine aminotransferase deficiency; psatd	PSAT1	PSAT1	https://raresource.nih.gov/literature/disease/0013273	0013273	610992	284417	C1970253			phosphoserine aminotransferase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Phosphoserine aminotransferase deficiency, infantile/juvenile form"	0	0	5
Bleeding diathesis due to glycoprotein VI deficiency	bdplt11//bleeding diathesis due to a collagen receptor defect//bleeding disorder due to glycoprotein vi deficiency//bleeding disorder platelet-type 11//glycoprotein vi deficiency//gp 6 deficiency//gp vi deficiency//gp6 inherited bleeding disorder, platelet-type//platelet-type bleeding disorder-11//bleeding diathesis due to glycoprotein vi deficiency//bleeding disorder, platelet-type, 11//bleeding disorder, platelet-type, 11; bdplt11//glycoprotein 6 deficiency//inherited bleeding disorder, platelet-type caused by mutation in gp6//platelet-type bleeding disorder 11	GP6	GP6	https://raresource.nih.gov/literature/disease/0013293	0013293	614201	98885				glycoprotein VI platelet	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Bleeding diathesis due to glycoprotein VI deficiency"	0	0	3
Familial focal epilepsy with variable foci	ffevf//familial partial epilepsy with variable foci//epilepsy, familial focal, with variable foci//familial focal epilepsy with variable foci	NPRL2;NPRL3;DEPDC5	NPRL2;NPRL3;DEPDC5	https://raresource.nih.gov/literature/disease/0013295	0013295	617116	98820				NPR2 like, GATOR1 complex subunit;NPR3 like, GATOR1 complex subunit;DEP domain containing 5, GATOR1 subcomplex subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial focal epilepsy with variable foci"	0	0	10
17q12 microdeletion syndrome	17q12 microdeletion syndrome//17q12 recurrent microdeletion syndrome//17q12 deletion syndrome//17q12 recurrent deletion syndrome//chromosome 17q12 deletion syndrome//del(17)(q12)//monosomy 17q12	LHX1;HNF1B	LHX1;HNF1B	https://raresource.nih.gov/literature/disease/0013297	0013297	614527	261265				LIM homeobox 1;HNF1 homeobox B	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=17q12 microdeletion syndrome"	0	0	25
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	bxl4-related early-onset mitochondrial encephalopathy//encephalomyopathic 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 deficiency//fbxl4 mitochondrial dna depletion syndrome//fbxl4-related early onset mitochondrial encephalopathy//fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome//mtdps13//mitochondrial dna depletion syndrome 13 (encephalomyopathic type)//mitochondrial dna depletion syndrome 13 encephalomyopathic type//encephalomyopathic form with variable craniofacial anomalies//mitochondrial dna depletion syndrome 13//mitochondrial dna depletion syndrome 13 (encephalomyopathic type); mtdps13//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//mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	FBXL4	FBXL4	https://raresource.nih.gov/literature/disease/0013298	0013298	615471	369897				F-box and leucine rich repeat protein 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"	0	0	76
MAGEL2-related Prader-Willi-like syndrome	magel2-related pwls//schaaf-yang syndrome	MAGEL2	MAGEL2	https://raresource.nih.gov/literature/disease/0013316	0013316	615547	398069				MAGE family member L2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MAGEL2-related Prader-Willi-like syndrome"	0	0	65
Developmental and epileptic encephalopathy 12	12//dee12//developmental and epileptic encephalopathy 12//eiee12//epileptic encephalopathy, early infantile, 12//early infantile epileptic encephalopathy 12//epileptic encephalopathy//plcb1 early infantile epileptic encephalopathy//developmental and epileptic encephalopathy, 12//early infantile//early infantile epileptic encephalopathy caused by mutation in plcb1//epileptic encephalopathy, early infantile, 12; eiee12//epileptic encephalopathy, early infantile, type 12	PLCB1	PLCB1	https://raresource.nih.gov/literature/disease/0013318	0013318			C3150988			phospholipase C beta 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 12"	0	0	2086
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 nfkb and t-cell anergy; benta//benta	CARD11	CARD11	https://raresource.nih.gov/literature/disease/0013339	0013339	616452	464336				caspase recruitment domain family member 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=BENTA disease"	0	0	19
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	culler-jones syndrome	GLI2	GLI2	https://raresource.nih.gov/literature/disease/0013349	0013349	615849	420584				GLI family zinc finger 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	0	0	6
Morning glory disc anomaly	ectasic coloboma//morning glory syndrome//volubilis syndrome	PAX6	PAX6	https://raresource.nih.gov/literature/disease/0013354	0013354	120430	35737	C0549307			paired box 6	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Morning glory disc anomaly"	0	0	264
Epiphyseal dysplasia, multiple, 6	col9a1 multiple epiphyseal dysplasia (disease)//col9a1-related multiple epiphyseal dysplasia//edm6//multiple epiphyseal dysplasia 6//epiphyseal dysplasia, multiple, 6//epiphyseal dysplasia, multiple, 6; edm6//epiphyseal dysplasia, multiple, type 6//multiple epiphyseal dysplasia (disease) caused by mutation in col9a1	COL9A1	COL9A1	https://raresource.nih.gov/literature/disease/0013376	0013376			C2675767			collagen type IX alpha 1 chain	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Epiphyseal dysplasia, multiple, 6"	0	0	None
Developmental and epileptic encephalopathy 17	17//dee17//developmental and epileptic encephalopathy 17//eiee17//epileptic encephalopathy, early infantile, 17//early infantile epileptic encephalopathy-17//epileptic encephalopathy//gnao1 early infantile epileptic encephalopathy//gnao1 encephalopathy//developmental and epileptic encephalopathy, 17//early infantile//early infantile epileptic encephalopathy 17//early infantile epileptic encephalopathy caused by mutation in gnao1//epileptic encephalopathy, early infantile, 17; eiee17//epileptic encephalopathy, early infantile, type 17	GNAO1	GNAO1	https://raresource.nih.gov/literature/disease/0013378	0013378			C3809606			G protein subunit alpha o1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 17"	0	0	1768
Intellectual developmental disorder, autosomal dominant 29	autosomal dominant intellectual disability 29//mrd29//mental retardation//setbp1 disorder//setbp1 intellectual disability-expressive aphasia-facial dysmorphism syndrome//setbp1 related developmental delay//setbp1-related disorder//setbp1-related intellectual disability//autosomal dominant 29//autosomal dominant intellectual disability 29//autosomal dominant mental retardation 29//autosomal dominant non-syndromic intellectual disability 29//intellectual disability, autosomal dominant 29//intellectual disability, autosomal dominant 29; mrd29//intellectual disability, autosomal dominant type 29//intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in setbp1//mental retardation, autosomal dominant 29//mental retardation, autosomal dominant 29; mrd29//mental retardation, autosomal dominant type 29	SETBP1	SETBP1	https://raresource.nih.gov/literature/disease/0013379	0013379			C4015141			SET binding protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual developmental disorder, autosomal dominant 29"	0	0	22854
Congenital generalized lipodystrophy	bscl//berardinelli-seip congenital lipodystrophy//berardinelli-seip syndrome//cgl//lipoatrophic diabetes	BSCL2;AGPAT2;CAV1;FOS;PPARG;CAVIN1	BSCL2;AGPAT2;CAV1;FOS;PPARG;CAVIN1	https://raresource.nih.gov/literature/disease/0013388	0013388	608594	528	C0221032			BSCL2 lipid droplet biogenesis associated, seipin;1-acylglycerol-3-phosphate O-acyltransferase 2;caveolin 1;Fos proto-oncogene, AP-1 transcription factor subunit;peroxisome proliferator activated receptor gamma;caveolae associated protein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Congenital generalized lipodystrophy"	0	0	914
Lipodystrophy, congenital generalized, type 3	berardinelli-seip congenital lipodystrophy, type 3//bscl3//berardinelli-seip congenital lipodystrophy type 3//berardinelli-seip congenital lipodystrophy//cav1 congenital generalized lipodystrophy (disease)//cgl3//congenital generalized lipodystrophy type 3//lipodystrophy, berardinelli-seip congenital, type 3//type 3 berardinelli-seip congenital lipodystrophy//berardinelli-seip congenital//congenital generalized lipodystrophy (disease) caused by mutation in cav1//lipodystrophy//lipodystrophy, congenital generalized, type 3//lipodystrophy, congenital generalized, type 3; cgl3//type 3	CAV1	CAV1	https://raresource.nih.gov/literature/disease/0013389	0013389			C2675861			caveolin 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Lipodystrophy, congenital generalized, type 3"	0	0	3565
12q14 microdeletion syndrome	del(12)(q14)//deletion 12q14//monosomy 12q14//osteopoikilosis - short stature - intellectual disability//osteopoikilosis with short stature and intellectual disability syndrome//osteopoikilosis-short stature-intellectual disability syndrome	HMGA2;LEMD3	HMGA2;LEMD3	https://raresource.nih.gov/literature/disease/0013390	0013390		94063				high mobility group AT-hook 2;LEM domain containing 3	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=12q14 microdeletion syndrome"	0	0	6
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	xia-gibbs syndrome	AHDC1	AHDC1	https://raresource.nih.gov/literature/disease/0013409	0013409	615829	412069				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"	0	0	31
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//tango2 deficiency//tango2 related disease//tango2-related encephalocardiomyopathy//tango2-related metabolic encephalopathy and arrhythmias//tango2-related metabolic encephalopathy-arrhythmia syndrome//metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; mecrcn//recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome//transport and golgi organization protein 2 (tango2) deficiency	TANGO2	TANGO2	https://raresource.nih.gov/literature/disease/0013423	0013423	616878	480864				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"	0	0	20
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	asct1 deficiency//spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	SLC1A4	SLC1A4	https://raresource.nih.gov/literature/disease/0013425	0013425	616657	447997				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"	0	0	2
REN-related autosomal dominant tubulointerstitial kidney disease	adtkd due to ren mutations//adtkd-ren//adtkd4//autosomal dominant tubulointerstitial kidney disease due to ren mutations//autosomal dominant tubulointerstitial kidney disease, ren-related//early-onset hyperuricemia, anemia, and progressive kidney failure//fjhn type 2//familial juvenile hyperuricemic nephropathy 2//familial juvenile hyperuricemic nephropathy type 2//hnfj2//hyperuricemic nephropathy, familial juvenile, 2//hyperuricemic nephropathy, familial juvenile 2//ren familial juvenile hyperuricemic nephropathy//ren-associated fjhn//ren-associated familial juvenile hyperuricemic nephropathy//ren-associated kidney disease//ren-associated kidney disease)//ren-related kidney disease//autosomal dominant tubulointerstitial kidney disease due to mutations in ren//familial juvenile hyperuricemic nephropathy caused by mutation in ren//hyperuricemic nephropathy, familial juvenile, 2; hnfj2//hyperuricemic nephropathy, familial juvenile, type 2	REN	REN	https://raresource.nih.gov/literature/disease/0013461	0013461	613092	217330	C2751310			renin	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=REN-related autosomal dominant tubulointerstitial kidney disease"	0	0	5
FTH1-related iron overload	fth1-associated iron overload	FTH1	FTH1	https://raresource.nih.gov/literature/disease/0013472	0013472	615517	247790				ferritin heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=FTH1-related iron overload"	0	0	None
Intellectual disability-epilepsy-extrapyramidal syndrome		DEAF1	DEAF1	https://raresource.nih.gov/literature/disease/0013474	0013474	617171	468620				DEAF1 transcription factor	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Intellectual disability-epilepsy-extrapyramidal syndrome"	0	0	None
MEPAN syndrome	autosomal recessive childhood-onset dystonia//childhood-onset generalized dystonia-optic atrophy syndrome//dyt29//dyt29 type//dystonia 29//mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome	MECR	MECR	https://raresource.nih.gov/literature/disease/0013488	0013488	617282	508093				mitochondrial trans-2-enoyl-CoA reductase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=MEPAN syndrome"	0	0	3
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	zttk syndrome//zhu-tokita-takenouchi-kim syndrome	SON	SON	https://raresource.nih.gov/literature/disease/0013489	0013489	617140	500150				SON DNA and RNA binding protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"	0	0	27
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy//smaled1	DYNC1H1	DYNC1H1	https://raresource.nih.gov/literature/disease/0013519	0013519	158600	209341	C1834690			dynein cytoplasmic 1 heavy chain 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"	0	0	4
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features	intellectual developmental disorder//autosomal dominant 40//formerly//mental retardation	CHAMP1	CHAMP1	https://raresource.nih.gov/literature/disease/0013539	0013539			C4225275			chromosome alignment maintaining phosphoprotein 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features"	0	0	23011
Combined immunodeficiency due to LRBA deficiency	cid due to lrba deficiency	LRBA	LRBA	https://raresource.nih.gov/literature/disease/0013565	0013565	614700	445018				LPS responsive beige-like anchor protein	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to LRBA deficiency"	0	0	None
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	autosomal recessive spastic paraplegia type 49//hsan due to tecpr2 mutation//spg49	TECPR2	TECPR2	https://raresource.nih.gov/literature/disease/0013568	0013568	615031	320385				tectonin beta-propeller repeat containing 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"	0	0	2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency		TPK1	TPK1	https://raresource.nih.gov/literature/disease/0013571	0013571	614458	293955				thiamin pyrophosphokinase 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	0	0	None
Combined immunodeficiency with granulomatosis	cid due to rag 1/2 deficiency//combined immunodeficiency due to rag 1/2 deficiency	RAG1;RAG2;INO80	RAG1;RAG2;INO80	https://raresource.nih.gov/literature/disease/0013587	0013587	233650	157949	C2673536			recombination activating 1;recombination activating 2;INO80 complex ATPase subunit	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency with granulomatosis"	0	0	None
Postural orthostatic tachycardia syndrome due to NET deficiency	familial orthostatic tachycardia due to norepinephrine transporter deficiency//orthostatic intolerance due to net deficiency//pots due to net deficiency	SLC6A2	SLC6A2	https://raresource.nih.gov/literature/disease/0013591	0013591	604715	443236				solute carrier family 6 member 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Postural orthostatic tachycardia syndrome due to NET deficiency"	0	0	None
Brain dopamine-serotonin vesicular transport disease		SLC18A2	SLC18A2	https://raresource.nih.gov/literature/disease/0013594	0013594	618049	352649				solute carrier family 18 member A2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Brain dopamine-serotonin vesicular transport disease"	0	0	4
CAD-CDG	cdg syndrome type iz//cdg-iz//cdg1z//carbohydrate deficient glycoprotein syndrome type iz//congenital disorder of glycosylation type 1z	CAD	CAD	https://raresource.nih.gov/literature/disease/0013621	0013621	616457	448010				carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=CAD-CDG"	0	0	None
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	minds syndrome//smith-kingsmore syndrome	MTOR	MTOR	https://raresource.nih.gov/literature/disease/0013636	0013636	616638	457485				mechanistic target of rapamycin kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	0	0	11
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	USP9X	USP9X	https://raresource.nih.gov/literature/disease/0013638	0013638	300968	480880				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"	0	0	None
Classic galactosemia	galt deficiency//galactose-1-phosphate uridyltransferase deficiency//galactosemia type 1	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[]=Classic galactosemia"	0	0	290
Familial cerebral cavernous malformation	familial brain cavernous angioma//familial cerebral cavernoma//hereditary brain cavernous angioma//hereditary cerebral cavernoma//hereditary cerebral cavernous malformation	CCM2;PDCD10;KRIT1	CCM2;PDCD10;KRIT1	https://raresource.nih.gov/literature/disease/0013641	0013641	603285	221061	C2931263			CCM2 scaffold protein;programmed cell death 10;KRIT1 ankyrin repeat containing	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial cerebral cavernous malformation"	0	0	65
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency		DGUOK	DGUOK	https://raresource.nih.gov/literature/disease/0013644	0013644	251880	279934				deoxyguanosine kinase	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"	0	0	None
Orofaciodigital syndrome type 14	microcephaly-cerebral malformation-orofaciodigital syndrome//ofd14//oral-facial-digital syndrome type 14	C2CD3	C2CD3	https://raresource.nih.gov/literature/disease/0013655	0013655	615948	434179				C2 domain containing 3 centriole elongation regulator	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Orofaciodigital syndrome type 14"	0	0	3
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder		UBTF	UBTF	https://raresource.nih.gov/literature/disease/0013658	0013658	617672	500180				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"	0	0	None
Classic multiminicore myopathy	classic mmd//classic multiminicore disease	TTN;MYH7;SELENON	TTN;MYH7;SELENON	https://raresource.nih.gov/literature/disease/0013661	0013661	602771	324604				titin;myosin heavy chain 7;selenoprotein N	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Classic multiminicore myopathy"	0	0	None
Familial sick sinus syndrome		SCN5A;MYH6;HCN4	SCN5A;MYH6;HCN4	https://raresource.nih.gov/literature/disease/0013663	0013663	163800	166282	C0037052	D012804		sodium voltage-gated channel alpha subunit 5;myosin heavy chain 6;hyperpolarization activated cyclic nucleotide gated potassium channel 4	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Familial sick sinus syndrome"	0	0	15
Developmental and epileptic encephalopathy 18	18//epileptic encephalopathy//early infantile	SZT2	SZT2	https://raresource.nih.gov/literature/disease/0013676	0013676			C3809624			SZT2 subunit of KICSTOR complex	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Developmental and epileptic encephalopathy 18"	0	0	2492
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	mental retardation//autosomal dominant 8//formerly	GRIN1	GRIN1	https://raresource.nih.gov/literature/disease/0013686	0013686			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"	0	0	22861
Warsaw breakage syndrome	wabs	DDX11	DDX11	https://raresource.nih.gov/literature/disease/0013708	0013708	613398	280558				DEAD/H-box helicase 11	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Warsaw breakage syndrome"	0	0	36
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			recombination activating 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Combined immunodeficiency due to partial RAG1 deficiency"	0	0	None
Spastic paraplegia 51, autosomal recessive	4//cerebral palsy//formerly//spastic quadriplegic	AP4E1	AP4E1	https://raresource.nih.gov/literature/disease/0013737	0013737			C3151056			adaptor related protein complex 4 subunit epsilon 1	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Spastic paraplegia 51, autosomal recessive"	0	0	25225
Multicentric osteolysis, nodulosis, and arthropathy	torg syndrome//al-aqeel sewairi syndrome//formerly//hereditary multicentric//nao syndrome//nodulosis-arthropathy-osteolysis syndrome//osteolysis//torg-winchester syndrome	MMP2	MMP2	https://raresource.nih.gov/literature/disease/0013743	0013743			C1850155			matrix metallopeptidase 2	https://bioinfo-abcc.ncifcrf.gov/totem/results_template3.php?q[]=Multicentric osteolysis, nodulosis, and arthropathy"	0	0	4003