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, synd