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Описание заболевания в базе данных OMIM
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Описание заболевания в библиотеке Gene Review
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AAAS | Achalasia-addisonianism-alacrimia syndrome | |
AARS | Charcot-Marie-Tooth disease, axonal Developmental and epileptic encephalopathy 29 Trichothiodystrophy 8, nonphotosensitive | |
AARS1 | Charcot-Marie-Tooth disease, axonal Developmental and epileptic encephalopathy 29 Trichothiodystrophy 8, nonphotosensitive | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
AARS2 | Combined oxidative phosphorylation deficiency 8 Leukoencephalopathy, progressive | |
ABAT | GABA-transaminase deficiency | |
ABCA12 | Ichthyosis, congenital Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
ABCA3 | Surfactant metabolism dysfunction, pulmonary | |
ABCA4 | Cone-rod dystrophy 3 Fundus flavimaculatus Retinal dystrophy, early-onset severe Retinitis pigmentosa 19 Stargardt disease 1 | Nonsyndromic Retinitis Pigmentosa Overview |
ABCB11 | Cholestasis, benign recurrent intrahepatic Cholestasis, progressive familial intrahepatic 2 | |
ABCB4 | Cholestasis, intrahepatic Cholestasis, progressive familial intrahepatic 3 Gallbladder disease 1 | |
ABCB7 | Anemia, sideroblastic | |
ABCC6 | Arterial calcification, generalized Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste | Pseudoxanthoma Elasticum Generalized Arterial Calcification of Infancy |
ABCC8 | Diabetes mellitus, noninsulin-dependent Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal 2 Hyperinsulinemic hypoglycemia, familial Hypoglycemia of infancy, leucine-sensitive | Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
ABCC9 | Cardiomyopathy, dilated Hypertrichotic osteochondrodysplasia (Cantu syndrome) Intellectual disability and myopathy syndrome | Brugada Syndrome Cantú syndrome |
ABCD1 | Adrenoleukodystrophy Adrenomyeloneuropathy, adult | X-Linked Adrenoleukodystrophy |
ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | Disorders of Intracellular Cobalamin Metabolism |
ABCG5 | Sitosterolemia 2 | Sitosterolemia |
ABHD12 | Polyneuropathy, hearing loss | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
ABHD5 | Chanarin-Dorfman syndrome | |
ACACA | Acetyl-CoA carboxylase deficiency | |
ACAD8 | Isobutyryl-CoA dehydrogenase deficiency | |
ACAD9 | Mitochondrial complex I deficiency, nuclear type 20 | |
ACADM | Acyl-CoA dehydrogenase, medium chain | Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
ACADS | Acyl-CoA dehydrogenase, short-chain | Short-Chain Acyl-CoA Dehydrogenase Deficiency |
ACADVL | VLCAD deficiency | Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
ACAN | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Spondyloepimetaphyseal dysplasia, aggrecan type | |
ACAT1 | Alpha-methylacetoacetic aciduria | |
ACE | Renal tubular dysgenesis | |
ACO2 | Infantile cerebellar-retinal degeneration | |
ACOX1 | Mitchell syndrome Peroxisomal acyl-CoA oxidase deficiency | |
ACP5 | Spondyloenchondrodysplasia with immune dysregulation | |
ACSF3 | Combined malonic and methylmalonic aciduria | |
ACSL4 | Intellectual developmental disorder, X-linked 63 | |
ACTA1 | Myopathy, actin Myopathy, actin Myopathy, congenital Nemaline myopathy 3, autosomal dominant or recessive | |
ACTA2 | Aortic aneurysm, familial thoracic 6 Moyamoya disease 5 Multisystemic smooth muscle dysfunction syndrome | Heritable Thoracic Aortic Disease Overview |
ACTB | Baraitser-Winter syndrome 1 | Baraitser-Winter Cerebrofrontofacial Syndrome |
ACTC1 | Atrial septal defect 5 Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 4 | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
ACTG1 | Baraitser-Winter syndrome 2 Deafness, autosomal dominant 20/26 | Hereditary Hearing Loss and Deafness Overview Baraitser-Winter Cerebrofrontofacial Syndrome |
ACTG2 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 Visceral myopathy 1 | ACTG2 Visceral Myopathy |
ACTL6B | Developmental and epileptic encephalopathy 76 Intellectual developmental disorder with severe speech and ambulation defects | |
ACTN1 | Bleeding disorder, platelet-type | |
ACTN2 | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Myopathy, congenital with structured cores and Z-line abnormalities Myopathy, distal | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
ACTN4 | Glomerulosclerosis, focal segmental | |
ACVR1 | Fibrodysplasia ossificans progressiva | Fibrodysplasia Ossificans Progressiva |
ACVR2B | Heterotaxy, visceral | |
ACVRL1 | Telangiectasia, hereditary hemorrhagic | Hereditary Hemorrhagic Telangiectasia Heritable Pulmonary Arterial Hypertension Overview |
ACY1 | Aminoacylase 1 deficiency | |
ADA | Adenosine deaminase deficiency, partial Severe combined immunodeficiency due to ADA deficiency | Adenosine Deaminase Deficiency |
ADAM17 | | |
ADAM22 | Developmental and epileptic encephalopathy 61 | |
ADAMTS13 | Thrombotic thrombocytopenic purpura, hereditary | |
ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | |
ADAMTSL2 | Geleophysic dysplasia 1 | Geleophysic Dysplasia |
ADAR | Aicardi-Goutieres syndrome 6 Dyschromatosis symmetrica hereditaria | Aicardi-Goutieres Syndrome |
ADARB1 | Neurodevelopmental disorder with hypotonia, microcephaly | |
ADAT3 | Neurodevelopmental disorder with brain abnormalities, poor growth | |
ADCY5 | Dyskinesia with orofacial involvement, autosomal dominant Dyskinesia with orofacial involvement, autosomal recessive Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | ADCY5 Dyskinesia |
ADGRG1 | Polymicrogyria, bilateral frontoparietal Polymicrogyria, bilateral perisylvian | |
ADGRG6 | Lethal congenital contracture syndrome 9 | |
ADGRV1 | Usher syndrome, type 2C Usher syndrome, type 2C | Usher Syndrome Type II |
ADK | Hypermethioninemia due to adenosine kinase deficiency | |
ADNP | Helsmoortel-van der Aa syndrome | ADNP-Related Disorder |
ADSL | Adenylosuccinase deficiency | |
AFF2 | Intellectual developmental disorder, X-linked 109 | |
AFG3L2 | Optic atrophy 12 Spastic ataxia 5, autosomal recessive Spinocerebellar ataxia 28 | Spinocerebellar Ataxia Type 28 |
AGA | Aspartylglucosaminuria | |
AGK | Cataract 38, autosomal recessive Sengers syndrome | |
AGL | Glycogen storage disease IIIa Glycogen storage disease IIIb | Glycogen Storage Disease Type III |
AGPAT2 | Lipodystrophy, congenital generalized | Berardinelli-Seip Congenital Lipodystrophy |
AGPS | Rhizomelic chondrodysplasia punctata, type 3 | |
AGRN | Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
AGT | Renal tubular dysgenesis | |
AGTPBP1 | Neurodegeneration, childhood-onset | |
AGTR1 | Renal tubular dysgenesis | |
AGXT | Hyperoxaluria, primary | Primary Hyperoxaluria Type 1 |
AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
AHDC1 | Xia-Gibbs syndrome | Xia-Gibbs Syndrome |
AHI1 | Joubert syndrome 3 | Joubert Syndrome |
AIFM1 | Combined oxidative phosphorylation deficiency 6 Cowchock syndrome Deafness, X-linked 5 Spondyloepimetaphyseal dysplasia, X-linked | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
AIMP1 | Leukodystrophy, hypomyelinating | |
AIP | Pituitary adenoma 1, multiple types Pituitary adenoma predisposition | AIP Familial Isolated Pituitary Adenomas |
AIPL1 | Cone-rod dystrophy Leber congenital amaurosis 4 Retinitis pigmentosa, juvenile | Nonsyndromic Retinitis Pigmentosa Overview |
AIRE | Autoimmune polyendocrinopathy syndrome , type I | |
AK2 | Reticular dysgenesis | |
AKR1D1 | Bile acid synthesis defect, congenital | |
AKT2 | Diabetes mellitus, type II Hypoinsulinemic hypoglycemia with hemihypertrophy | |
AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | MPPH Syndrome |
ALAD | Porphyria, acute hepatic | |
ALAS2 | Anemia, sideroblastic Protoporphyria, erythropoietic | X-Linked Protoporphyria |
ALB | Analbuminemia | |
ALDH18A1 | Cutis laxa, autosomal dominant 3 Cutis laxa, autosomal recessive Spastic paraplegia 9A, autosomal dominant Spastic paraplegia 9B, autosomal recessive | |
ALDH1A3 | Microphthalmia, isolated 8 | |
ALDH3A2 | Sjogren-Larsson syndrome | |
ALDH4A1 | Hyperprolinemia, type II | |
ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | Succinic Semialdehyde Dehydrogenase Deficiency |
ALDH6A1 | Methylmalonate semialdehyde dehydrogenase deficiency | |
ALDH7A1 | Epilepsy, pyridoxine-dependent | Pyridoxine-Dependent Epilepsy - ALDH7A1 |
ALDOA | Glycogen storage disease XII | |
ALDOB | Fructose intolerance, hereditary | Hereditary Fructose Intolerance |
ALG1 | Congenital disorder of glycosylation, type Ik | |
ALG11 | Congenital disorder of glycosylation, type Ip | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG12 | Congenital disorder of glycosylation, type Ig | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG13 | Developmental and epileptic encephalopathy 36 | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG14 | Intellectual developmental disorder with epilepsy, behavioral abnormalities Myopathy, epilepsy | Congenital Myasthenic Syndromes Overview |
ALG2 | Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG3 | Congenital disorder of glycosylation, type Id | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG6 | Congenital disorder of glycosylation, type Ic | |
ALG8 | Congenital disorder of glycosylation, type Ih Polycystic liver disease 3 with or without kidney cysts | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG9 | Congenital disorder of glycosylation, type Il Gillessen-Kaesbach-Nishimura syndrome | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALMS1 | Alstrom syndrome | Alstrom Syndrome |
ALOX12B | Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
ALOXE3 | Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
ALPL | Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile Odontohypophosphatasia | Hypophosphatasia |
ALS2 | Amyotrophic lateral sclerosis 2, juvenile Primary lateral sclerosis, juvenile Spastic paralysis, infantile onset ascending | ALS2-Related Disorder |
ALX3 | Frontonasal dysplasia 1 | |
ALX4 | Frontonasal dysplasia 2 Parietal foramina 2 | Enlarged Parietal Foramina |
AMACR | Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital | |
AMELX | Amelogenesis imperfecta, type 1E | |
AMER1 | Osteopathia striata with cranial sclerosis | Osteopathia Striata with Cranial Sclerosis |
AMN | Adrenoleukodystrophy Adrenomyeloneuropathy, adult Imerslund-Grasbeck syndrome 2 | |
AMPD1 | Myopathy due to myoadenylate deaminase deficiency | |
AMPD2 | Pontocerebellar hypoplasia, type 9 | |
AMT | Glycine encephalopathy | Nonketotic Hyperglycinemia |
ANK1 | Spherocytosis, type 1 | |
ANK2 | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome 4 | Long QT Syndrome |
ANK3 | Mental retardation, autosomal recessive | |
ANKH | Chondrocalcinosis 2 Craniometaphyseal dysplasia | Craniometaphyseal Dysplasia, Autosomal Dominant |
ANKRD1 | Dilated Cardiomyopathy Overview | |
ANKRD11 | KBG syndrome | KBG Syndrome |
ANKRD26 | Thrombocytopenia 2 | ANKRD26-Related Thrombocytopenia |
ANKS6 | Nephronophthisis 16 | Nephronophthisis |
ANO10 | Spinocerebellar ataxia, autosomal recessive 10 | |
ANO5 | Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Muscular dystrophy, limb-girdle | ANO5 Muscle Disease |
ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
ANTXR1 | GAPO syndrome | |
ANTXR2 | Hyaline fibromatosis syndrome | Hyaline Fibromatosis Syndrome |
AP1B1 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive | |
AP1S1 | MEDNIK syndrome | |
AP1S2 | Pettigrew syndrome | |
AP3B1 | Hermansky-Pudlak syndrome 2 | Hermansky-Pudlak Syndrome |
AP3B2 | Developmental and epileptic encephalopathy 48 | |
AP4B1 | Spastic paraplegia 47, autosomal recessive | AP-4-Associated Hereditary Spastic Paraplegia |
AP4E1 | Spastic paraplegia 51, autosomal recessive Stuttering, familial persistent | AP-4-Associated Hereditary Spastic Paraplegia |
AP4M1 | Spastic paraplegia 50, autosomal recessive | AP-4-Associated Hereditary Spastic Paraplegia |
AP4S1 | Spastic paraplegia 52, autosomal recessive | AP-4-Associated Hereditary Spastic Paraplegia |
APC | Adenoma, periampullary Adenomatous polyposis coli Brain tumor-polyposis syndrome 2 Colorectal cancer, somatic Desmoid disease, hereditary Gardner syndrome Gastric adenocarcinoma and proximal polyposis of the stomach Gastric cancer, somatic Hepatoblastoma, somatic | APC-Associated Polyposis Conditions |
APC2 | Cortical dysplasia, complex Intellectual developmental disorder, autosomal recessive 74 | |
APOB | Hypercholesterolemia, familial Hypobetalipoproteinemia | Familial Hypercholesterolemia APOB-Related Familial Hypobetalipoproteinemia |
APTX | Ataxia, early-onset | Ataxia with Oculomotor Apraxia Type 1 |
AR | Androgen insensitivity Androgen insensitivity, partial Hypospadias 1, X-linked Spinal and bulbar muscular atrophy of Kennedy | Spinal and Bulbar Muscular Atrophy Androgen Insensitivity Syndrome |
ARCN1 | Short stature, rhizomelic | |
ARFGEF2 | Periventricular heterotopia with microcephaly | |
ARG1 | Argininemia | Arginase Deficiency Urea Cycle Disorders Overview |
ARHGAP31 | Adams-Oliver syndrome 1 | Adams-Oliver Syndrome |
ARHGDIA | Nephrotic syndrome, type 8 | |
ARHGEF9 | Developmental and epileptic encephalopathy 8 | |
ARID1A | Coffin-Siris syndrome 2 | Coffin-Siris Syndrome |
ARID1B | Coffin-Siris syndrome 1 | Coffin-Siris Syndrome ARID1B-Related Disorder |
ARID2 | Coffin-Siris syndrome 6 | Coffin-Siris Syndrome |
ARL13B | Joubert syndrome 8 | Joubert Syndrome |
ARL3 | Joubert syndrome 35 Retinitis pigmentosa 83 | |
ARL6 | Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 | Bardet-Biedl Syndrome Overview Nonsyndromic Retinitis Pigmentosa Overview |
ARL6IP1 | | |
ARMC4 | Ciliary dyskinesia, primary | |
ARMC9 | Joubert syndrome 30 | |
ARNT2 | | |
ARSA | Metachromatic leukodystrophy | Arylsulfatase A Deficiency |
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | |
ARSL | Chondrodysplasia Punctata 1, X-Linked | |
ARV1 | Developmental and epileptic encephalopathy 38 | |
ARX | Developmental and epileptic encephalopathy 1 Hydranencephaly with abnormal genitalia Intellectual developmental disorder, X-linked 29 Lissencephaly, X-linked 2 Partington syndrome Proud syndrome | |
ASAH1 | Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy | ASAH1-Related Disorders |
ASCC1 | Barrett esophagus/esophageal adenocarcinoma Spinal muscular atrophy with congenital bone fractures 2 | |
ASH1L | Mental retardation, autosomal dominant 52 | |
ASL | Argininosuccinic aciduria | Urea Cycle Disorders Overview Argininosuccinate Lyase Deficiency |
ASNS | Asparagine synthetase deficiency | Asparagine Synthetase Deficiency |
ASPA | Canavan disease | Canavan Disease |
ASPH | Traboulsi syndrome | |
ASPM | Microcephaly 5, primary | ASPM Primary Microcephaly |
ASS1 | Citrullinemia | Urea Cycle Disorders Overview Citrullinemia Type I |
ASXL1 | Bohring-Opitz syndrome Myelodysplastic syndrome, somatic | Bohring-Optiz Syndrome |
ASXL2 | Shashi-Pena syndrome | |
ASXL3 | Bainbridge-Ropers syndrome | ASXL3-Related Disorder |
ATAD3A | Harel-Yoon syndrome Pontocerebellar hypoplasia, hypotonia | |
ATCAY | Ataxia, cerebellar | |
ATIC | AICA-ribosiduria due to ATIC deficiency | |
ATL1 | Neuropathy, hereditary sensory Spastic paraplegia 3A, autosomal dominant | Spastic Paraplegia 3A |
ATM | Ataxia-telangiectasia Lymphoma, B-cell non-Hodgkin Lymphoma, mantle cell T-cell prolymphocytic leukemia, somatic (3) | Ataxia-Telangiectasia |
ATOH7 | Persistent hyperplastic primary vitreous, autosomal recessive | |
ATP13A2 | Kufor-Rakeb syndrome Spastic paraplegia 78, autosomal recessive | |
ATP1A1 | Charcot-Marie-Tooth disease, axonal Hypomagnesemia, seizures | |
ATP1A2 | Alternating hemiplegia of childhood 1 Developmental and epileptic encephalopathy 98 Fetal akinesia, respiratory insufficiency Migraine, familial basilar Migraine, familial hemiplegic | Familial Hemiplegic Migraine |
ATP1A3 | Alternating hemiplegia of childhood 2 CAPOS syndrome Developmental and epileptic encephalopathy 99 Dystonia-12 | ATP1A3-Related Neurologic Disorders |
ATP2A1 | Brody myopathy | |
ATP2B3 | | |
ATP6AP2 | Congenital disorder of glycosylation, type IIr Intellectual developmental disorder, X-linked | |
ATP6V0A2 | Cutis laxa, autosomal recessive Wrinkly skin syndrome | ATP6V0A2-Related Cutis Laxa |
ATP6V0A4 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | Hereditary Distal Renal Tubular Acidosis |
ATP6V1A | Cutis laxa, autosomal recessive Developmental and epileptic encephalopathy 93 | |
ATP6V1B1 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | Hereditary Distal Renal Tubular Acidosis |
ATP6V1B2 | Deafness, congenital Zimmermann-Laband syndrome 2 | |
ATP7A | Menkes disease Occipital horn syndrome Spinal muscular atrophy, distal | Charcot-Marie-Tooth Hereditary Neuropathy Overview ATP7A-Related Copper Transport Disorders |
ATP7B | Wilson disease | Wilson Disease |
ATP8A2 | | |
ATP8B1 | Cholestasis, benign recurrent intrahepatic Cholestasis, intrahepatic Cholestasis, progressive familial intrahepatic 1 | ATP8B1 Deficiency |
ATRX | Alpha-thalassemia myelodysplasia syndrome, somatic Alpha-thalassemia/mental retardation syndrome Mental retardation-hypotonic facies syndrome, X-linked | Alpha-Thalassemia X-Linked Intellectual Disability Syndrome |
AUH | 3-methylglutaconic aciduria, type I | |
AUTS2 | Intellectual developmental disorder, autosomal dominant 26 | |
AVPR2 | Diabetes insipidus, nephrogenic Nephrogenic syndrome of inappropriate antidiuresis | Hereditary Nephrogenic Diabetes Insipidus |
B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A | |
B3GALT6 | Al-Gazali syndrome Ehlers-Danlos syndrome, spondylodysplastic type Spondyloepimetaphyseal dysplasia with joint laxity, type 1 | |
B3GALTL | Peters-plus syndrome | |
B3GAT3 | Multiple joint dislocations, short stature | |
B3GLCT | Peters-plus syndrome | Peters Plus Syndrome |
B4GALNT1 | Spastic paraplegia 26, autosomal recessive | |
B4GALT7 | Ehlers-Danlos syndrome, spondylodysplastic type | |
B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A | |
B9D1 | Joubert syndrome 27 | Joubert Syndrome |
B9D2 | Joubert syndrome 34 | Joubert Syndrome |
BAAT | Bile acid conjugation defect 1 | |
BAG3 | Cardiomyopathy, dilated Myopathy, myofibrillar | Dilated Cardiomyopathy Overview Charcot-Marie-Tooth Hereditary Neuropathy Overview |
BANF1 | Nestor-Guillermo progeria syndrome | |
BBS1 | Bardet-Biedl syndrome 1 | Bardet-Biedl Syndrome Overview |
BBS10 | Bardet-Biedl syndrome 10 | Bardet-Biedl Syndrome Overview |
BBS12 | Bardet-Biedl syndrome 12 | Bardet-Biedl Syndrome Overview |
BBS2 | Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 | Bardet-Biedl Syndrome Overview |
BBS4 | Bardet-Biedl syndrome 4 | Bardet-Biedl Syndrome Overview |
BBS5 | Bardet-Biedl syndrome 5 | Bardet-Biedl Syndrome Overview |
BBS7 | Bardet-Biedl syndrome 7 | Bardet-Biedl Syndrome Overview |
BBS9 | Bardet-Biedl syndrome 9 | Bardet-Biedl Syndrome Overview |
BCAP31 | Deafness, dystonia | |
BCKDHA | Maple syrup urine disease, type Ia | Maple Syrup Urine Disease |
BCKDHB | Maple syrup urine disease, type Ib | Maple Syrup Urine Disease |
BCL11A | Dias-Logan syndrome | BCL11A-Related Intellectual Disability |
BCOR | Microphthalmia, syndromic 2 | |
BCS1L | Bjornstad syndrome GRACILE syndrome Mitochondrial complex III deficiency, nuclear type 1 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
BGN | Meester-Loeys syndrome Spondyloepimetaphyseal dysplasia, X-linked | Heritable Thoracic Aortic Disease Overview |
BHLHA9 | Syndactyly, mesoaxial synostotic | |
BICD2 | Spinal muscular atrophy, lower extremity-predominant Spinal muscular atrophy, lower extremity-predominant | |
BIN1 | Centronuclear myopathy 2 | |
BLM | Bloom syndrome | Wilms Tumor Predisposition Bloom Syndrome |
BLNK | | |
BMP1 | Osteogenesis imperfecta, type XIII | |
BMP2 | Brachydactyly, type A2 Short stature, facial dysmorphism | |
BMP4 | Microphthalmia, syndromic 6 Orofacial cleft 11 | |
BMPER | Diaphanospondylodysostosis | |
BMPR1A | Polyposis syndrome, hereditary mixed Polyposis, juvenile intestinal | Juvenile Polyposis Syndrome |
BMPR1B | Acromesomelic dysplasia 3 Brachydactyly, type A1 Brachydactyly, type A2 | Heritable Pulmonary Arterial Hypertension Overview |
BMPR2 | Pulmonary hypertension, familial primary Pulmonary hypertension, primary Pulmonary venoocclusive disease 1 | Heritable Pulmonary Arterial Hypertension Overview |
BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | |
BPTF | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
BRAF | Adenocarcinoma of lung, somatic Cardiofaciocutaneous syndrome Colorectal cancer, somatic LEOPARD syndrome 3 Melanoma, malignant Nonsmall cell lung cancer, somatic Noonan syndrome 7 | Noonan Syndrome Cardiofaciocutaneous Syndrome Noonan Syndrome with Multiple Lentigines |
BRAT1 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures Rigidity and multifocal seizure syndrome, lethal neonatal | |
BRCA1 | Fanconi anemia, complementation group S | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer Fanconi Anemia |
BRCA2 | Fanconi anemia, complementation group D1 Wilms tumor | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer Wilms Tumor Predisposition Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
BRPF1 | Intellectual developmental disorder with dysmorphic facies and ptosis | |
BRWD3 | Intellectual developmental disorder, X-linked 93 | |
BSCL2 | Encephalopathy, progressive Lipodystrophy, congenital generalized Neuropathy, distal hereditary motor Silver spastic paraplegia syndrome | Berardinelli-Seip Congenital Lipodystrophy BSCL2-Related Neurologic Disorders/Seipinopathy |
BSND | Bartter syndrome, type 4a Sensorineural deafness with mild renal dysfunction | |
BTD | Biotinidase deficiency | Biotinidase Deficiency |
BTK | Agammaglobulinemia, X-linked 1 Isolated growth hormone deficiency, type III | X-Linked Agammaglobulinemia |
C10ORF2 | | |
C12orf57 | Temtamy syndrome | |
C12orf65 | Combined oxidative phosphorylation deficiency 7 Spastic paraplegia 55, autosomal recessive | |
C19orf12 | Neurodegeneration with brain iron accumulation 4 | Neurodegeneration with Brain Iron Accumulation Disorders Overview Mitochondrial Membrane Protein-Associated Neurodegeneration |
C1QBP | Combined oxidative phosphorylation deficiency 33 | |
C2CD3 | Orofaciodigital syndrome XIV | Joubert Syndrome |
C8orf37 | Bardet-Biedl syndrome 21 Cone-rod dystrophy 16 Retinitis pigmentosa 64 | |
CA2 | Osteopetrosis, autosomal recessive 3 | |
CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | Carbonic Anhydrase VA Deficiency |
CA8 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | |
CACNA1A | Developmental and epileptic encephalopathy 42 Episodic ataxia, type 2 Migraine, familial hemiplegic Migraine, familial hemiplegic Spinocerebellar ataxia 6 | Spinocerebellar Ataxia Type 6 Familial Hemiplegic Migraine |
CACNA1C | Brugada syndrome 3 Long QT syndrome 8 Timothy syndrome | Long QT Syndrome CACNA1C-Related Disorders Brugada Syndrome |
CACNA1D | Primary aldosteronism, seizures Sinoatrial node dysfunction and deafness | |
CACNA1E | Developmental and epileptic encephalopathy 69 | |
CACNA1F | Aland Island eye disease Cone-rod dystrophy, X-linked Night blindness, congenital stationary (incomplete) | X-Linked Congenital Stationary Night Blindness |
CACNA1G | Spinocerebellar ataxia 42 Spinocerebellar ataxia 42, early-onset | |
CACNA1S | Hypokalemic periodic paralysis, type 1 | Malignant Hyperthermia Susceptibility Hypokalemic Periodic Paralysis |
CAD | Developmental and epileptic encephalopathy 50 | |
CAMK2A | Mental retardation, autosomal dominant 53 | |
CAMK2B | Mental retardation, autosomal dominant 54 | |
CAMTA1 | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
CANT1 | Desbuquois dysplasia 1 Epiphyseal dysplasia, multiple | |
CAPN3 | Muscular dystrophy, limb-girdle Muscular dystrophy, limb-girdle | Calpainopathy |
CARD11 | B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11A Immunodeficiency 11B with atopic dermatitis | |
CARS2 | Combined oxidative phosphorylation deficiency 27 | |
CASK | FG syndrome 4 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia Mental retardation, with or without nystagmus | CASK Disorders |
CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic | Catecholaminergic Polymorphic Ventricular Tachycardia |
CASR | Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant Hypocalciuric hypercalcemia, type I | Pancreatitis Overview |
CAV1 | Lipodystrophy, familial partial Pulmonary hypertension, primary | Heritable Pulmonary Arterial Hypertension Overview |
CAV3 | Cardiomyopathy, familial hypertrophic Creatine phosphokinase, elevated serum Long QT syndrome 9 Myopathy, distal Rippling muscle disease 2 | Long QT Syndrome |
CAVIN1 | Lipodystrophy, congenital generalized | |
CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | |
CBS | Homocystinuria, B6-responsive and nonresponsive types Thrombosis, hyperhomocysteinemic | Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
CC2D1A | Mental retardation, autosomal recessive 3 | |
CC2D2A | COACH syndrome 2 Joubert syndrome 9 Meckel syndrome 6 | Joubert Syndrome |
CCBE1 | Hennekam lymphangiectasia-lymphedema syndrome 1 | |
CCDC103 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
CCDC115 | Congenital disorder of glycosylation, type IIo | |
CCDC22 | Ritscher-Schinzel syndrome 2 | Ritscher-Schinzel Syndrome |
CCDC39 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
CCDC40 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
CCDC47 | Trichohepatoneurodevelopmental syndrome | |
CCDC65 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
CCDC78 | | |
CCDC8 | 3-M syndrome 3 | Three M Syndrome |
CCDC88A | | |
CCDC88C | Hydrocephalus, congenital | |
CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | MPPH Syndrome |
CCNK | | |
CCNO | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
CCNQ | | |
CCT5 | Neuropathy, hereditary sensory | |
CD19 | Immunodeficiency, common variable | |
CD247 | | |
CD3D | Immunodeficiency 19 | |
CD3E | Immunodeficiency 18 Immunodeficiency 18, SCID variant | |
CD3G | Immunodeficiency 17, CD3 gamma deficient | |
CD40 | Immunodeficiency with hyper-IgM, type 3 | |
CD40LG | Immunodeficiency, X-linked | X-Linked Hyper IgM Syndrome |
CD79A | Agammaglobulinemia 3 | |
CD79B | Agammaglobulinemia 6 | |
CD96 | C syndrome | |
CDAN1 | Dyserythropoietic anemia, congenital | Congenital Dyserythropoietic Anemia Type I |
CDC45 | | |
CDH1 | Blepharocheilodontic syndrome 1 Breast cancer, lobular Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate Endometrial carcinoma, somatic Ovarian cancer, somatic | Hereditary Diffuse Gastric Cancer |
CDH2 | Agenesis of corpus callosum, cardiac Arrhythmogenic right ventricular dysplasia, familial | |
CDH23 | Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D/F digenic | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
CDH3 | Ectodermal dysplasia, ectrodactyly Hypotrichosis, congenital Mental retardation, autosomal dominant 3 | |
CDK10 | Al Kaissi syndrome | |
CDK13 | Congenital heart defects, dysmorphic facial features | CDK13-Related Disorder |
CDK19 | Developmental and epileptic encephalopathy 87 | |
CDK5RAP2 | Microcephaly 3, primary | |
CDKL5 | Developmental and epileptic encephalopathy 2 | |
CDKN1C | Beckwith-Wiedemann syndrome IMAGE syndrome | Wilms Tumor Predisposition Silver-Russell Syndrome Beckwith-Wiedemann Syndrome IMAGe Syndrome |
CDKN2A | | |
CDON | Holoprosencephaly 11 | Holoprosencephaly Overview |
CDSN | Hypotrichosis 2 Peeling skin syndrome 1 | |
CDT1 | Meier-Gorlin syndrome 4 | |
CENPF | Stromme syndrome | |
CENPJ | Microcephaly 6, primary | |
CEP104 | Joubert syndrome 25 | Joubert Syndrome |
CEP135 | Microcephaly 8, primary | |
CEP152 | Microcephaly 9, primary Seckel syndrome 5 | |
CEP164 | Nephronophthisis 15 | Nephronophthisis |
CEP290 | Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6 | Joubert Syndrome Bardet-Biedl Syndrome Overview Nephronophthisis |
CEP41 | Joubert syndrome 15 | Joubert Syndrome |
CEP57 | Mosaic variegated aneuploidy syndrome 2 | |
CEP63 | | |
CEP83 | Nephronophthisis 18 | Nephronophthisis |
CERS1 | | |
CERS3 | Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
CERT1 | | |
CFAP298 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
CFAP300 | Ciliary dyskinesia, primary | |
CFAP410 | Retinal dystrophy with macular staphyloma Spondylometaphyseal dysplasia, axial | |
CFC1 | Heterotaxy, visceral | |
CFL2 | Nemaline myopathy 7, autosomal recessive | |
CFP | | |
CFTR | Congenital bilateral absence of vas deferens Cystic fibrosis Sweat chloride elevation without CF (3) | Cystic Fibrosis and Congenital Absence of the Vas Deferens Pancreatitis Overview |
CHAMP1 | Mental retardation, autosomal dominant 40 | |
CHAT | Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
CHD2 | Developmental and epileptic encephalopathy 94 | CHD2-Related Neurodevelopmental Disorders |
CHD3 | Snijders Blok-Campeau syndrome | |
CHD4 | Sifrim-Hitz-Weiss syndrome | CHD4 Neurodevelopmental Disorder |
CHD7 | CHARGE syndrome Hypogonadotropic hypogonadism 5 with or without anosmia | CHD7 Disorder Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Esophageal Atresia/Tracheoesophageal Fistula Overview |
CHD8 | | |
CHKB | Muscular dystrophy, congenital | |
CHM | Choroideremia | Choroideremia |
CHMP1A | Pontocerebellar hypoplasia, type 8 | |
CHRDL1 | Megalocornea 1, X-linked 309300 (3) | |
CHRNA1 | Multiple pterygium syndrome, lethal type Myasthenic syndrome, congenital Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
CHRNA2 | Epilepsy, nocturnal frontal lobe | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
CHRNA4 | Epilepsy, nocturnal frontal lobe | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
CHRNB1 | Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
CHRND | Multiple pterygium syndrome, lethal type Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
CHRNE | Myasthenic syndrome, congenital Myasthenic syndrome, congenital Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
CHRNG | Escobar syndrome Multiple pterygium syndrome, lethal type | |
CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 | |
CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations | CHST3-Related Skeletal Dysplasia |
CHSY1 | Temtamy preaxial brachydactyly syndrome | |
CHUK | Cocoon syndrome | |
CIB2 | Deafness, autosomal recessive 48 Usher syndrome, type IJ | Usher Syndrome Type I |
CILK1 | | |
CISD2 | Wolfram syndrome 2 | |
CIT | Microcephaly 17, primary | |
CKAP2L | Filippi syndrome | |
CLCN1 | Myotonia congenita, dominant Myotonia congenita, recessive Myotonia levior, recessive (3) | Myotonia Congenita |
CLCN2 | Hyperaldosteronism, familial Leukoencephalopathy with ataxia | CLCN2-Related Leukoencephalopathy |
CLCN4 | Raynaud-Claes syndrome | CLCN4-Related Neurodevelopmental Disorder |
CLCN5 | Dent disease 1 Hypophosphatemic rickets Nephrolithiasis, type I Proteinuria, low molecular weight | Dent Disease |
CLCN7 | Hypopigmentation, organomegaly Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4 | CLCN7-Related Osteopetrosis |
CLCNKB | Bartter syndrome, type 3 Bartter syndrome, type 4b | |
CLDN1 | Ichthyosis, leukocyte vacuoles | |
CLDN14 | Deafness, autosomal recessive 29 | Hereditary Hearing Loss and Deafness Overview |
CLDN16 | Hypomagnesemia 3, renal | |
CLDN19 | Hypomagnesemia 5, renal | |
CLMP | Congenital short bowel syndrome | |
CLN3 | Ceroid lipofuscinosis, neuronal | |
CLN5 | Ceroid lipofuscinosis, neuronal | |
CLN6 | Ceroid lipofuscinosis, neuronal Ceroid lipofuscinosis, neuronal | |
CLN8 | Ceroid lipofuscinosis, neuronal Ceroid lipofuscinosis, neuronal | |
CLP1 | Pontocerebellar hypoplasia, type 10 | |
CLPB | 3-methylglutaconic aciduria, type VII | CLPB Deficiency |
CLPP | Perrault syndrome 3 | Perrault Syndrome |
CLRN1 | Retinitis pigmentosa 61 Usher syndrome, type 3A | Nonsyndromic Retinitis Pigmentosa Overview |
CLTC | Mental retardation, autosomal dominant 56 | |
CNGB3 | Achromatopsia 3 | Achromatopsia |
CNNM2 | Hypomagnesemia 6, renal Hypomagnesemia, seizures | |
CNOT1 | Holoprosencephaly 12, with or without pancreatic agenesis Vissers-Bodmer syndrome | |
CNOT3 | Intellectual developmental disorder with speech delay, autism | |
CNPY3 | Developmental and epileptic encephalopathy 60 | |
CNTNAP1 | Hypomyelinating neuropathy, congenital Lethal congenital contracture syndrome 7 | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
CNTNAP2 | Pitt-Hopkins like syndrome 1 | |
COA6 | Mitochondrial complex IV deficiency, nuclear type 13 | |
COA8 | | |
COASY | Neurodegeneration with brain iron accumulation 6 Pontocerebellar hypoplasia, type 12 | Neurodegeneration with Brain Iron Accumulation Disorders Overview |
COCH | Deafness, autosomal dominant 9 | Hereditary Hearing Loss and Deafness Overview |
COG1 | Congenital disorder of glycosylation, type IIg | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG4 | Congenital disorder of glycosylation, type IIj Saul-Wilson syndrome | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview Saul-Wilson Syndrome |
COG5 | Congenital disorder of glycosylation, type IIi | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG6 | Congenital disorder of glycosylation, type IIl Shaheen syndrome | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG7 | Congenital disorder of glycosylation, type IIe | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG8 | Congenital disorder of glycosylation, type IIh | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COL10A1 | Metaphyseal chondrodysplasia, Schmid type | Schmid Metaphyseal Chondrodysplasia |
COL11A1 | Deafness, autosomal dominant 37 Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome, type II | Stickler Syndrome |
COL11A2 | Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive | Stickler Syndrome Hereditary Hearing Loss and Deafness Overview |
COL17A1 | Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional Epithelial recurrent erosion dystrophy | Junctional Epidermolysis Bullosa |
COL1A1 | Caffey disease Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta, type I Osteogenesis imperfecta, type II Osteogenesis imperfecta, type III Osteogenesis imperfecta, type IV | Classic Ehlers-Danlos Syndrome COL1A1/2 Osteogenesis Imperfecta Caffey Disease |
COL1A2 | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome, cardiac valvular type Osteogenesis imperfecta, type II Osteogenesis imperfecta, type III Osteogenesis imperfecta, type IV | COL1A1/2 Osteogenesis Imperfecta |
COL2A1 | Achondrogenesis, type II or hypochondrogenesis Avascular necrosis of the femoral head Czech dysplasia Kniest dysplasia Legg-Calve-Perthes disease Osteoarthritis with mild chondrodysplasia Platyspondylic skeletal dysplasia, Torrance type SED congenita SMED Strudwick type Spondyloepiphyseal dysplasia, Stanescu type Spondyloperipheral dysplasia Stickler sydrome, type I Stickler syndrome, type I | Stickler Syndrome Type II Collagen Disorders Overview Spondylometaphyseal Dysplasia, Corner Fracture Type |
COL3A1 | Ehlers-Danlos syndrome, vascular type Polymicrogyria with or without vascular-type EDS | Vascular Ehlers-Danlos Syndrome |
COL4A1 | Angiopathy, hereditary Brain small vessel disease with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine | COL4A1-Related Disorders |
COL4A2 | Brain small vessel disease 2 | |
COL4A3 | Alport syndrome 2, autosomal recessive Alport syndrome 3, autosomal dominant Hematuria, benign familial | Alport Syndrome |
COL4A4 | Alport syndrome 2, autosomal recessive Hematuria, familial benign | Alport Syndrome |
COL4A5 | Alport syndrome 1, X-linked | Alport Syndrome |
COL5A1 | Ehlers-Danlos syndrome, classic type Fibromuscular dysplasia, multifocal | Classic Ehlers-Danlos Syndrome |
COL5A2 | Ehlers-Danlos syndrome, classic type | Classic Ehlers-Danlos Syndrome |
COL6A1 | Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1 | Collagen VI-Related Dystrophies |
COL6A2 | Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1 | Collagen VI-Related Dystrophies |
COL6A3 | Bethlem myopathy 1 Dystonia 27 Ullrich congenital muscular dystrophy 1 | Collagen VI-Related Dystrophies |
COL7A1 | EBD inversa EBD, Bart type EBD, localisata variant (3) Epidermolysis bullosa dystrophica, AD Epidermolysis bullosa dystrophica, AR Epidermolysis bullosa pruriginosa Epidermolysis bullosa, pretibial Toenail dystrophy, isolated Transient bullous of the newborn | Dystrophic Epidermolysis Bullosa |
COL9A1 | Stickler syndrome, type IV | Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome |
COL9A2 | Epiphyseal dysplasia, multiple | Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome |
COL9A3 | Epiphyseal dysplasia, multiple | Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome |
COLEC10 | 3MC syndrome 3 | |
COLEC11 | 3MC syndrome 2 | |
COLQ | Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
COMP | Carpal tunnel syndrome 2 Epiphyseal dysplasia, multiple Pseudoachondroplasia | Multiple Epiphyseal Dysplasia, Dominant Pseudoachondroplasia |
COQ2 | Coenzyme Q10 deficiency, primary | Primary Coenzyme Q10 Deficiency |
COQ4 | Coenzyme Q10 deficiency, primary | Primary Coenzyme Q10 Deficiency |
COQ6 | Coenzyme Q10 deficiency, primary | Primary Coenzyme Q10 Deficiency |
COQ8A | Primary Coenzyme Q10 Deficiency | |
COQ8B | Nephrotic syndrome, type 9 | Primary Coenzyme Q10 Deficiency |
COQ9 | Coenzyme Q10 deficiency, primary | Primary Coenzyme Q10 Deficiency |
CORO1A | Immunodeficiency 8 | |
COX10 | Mitochondrial complex IV deficiency, nuclear type 3 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
COX15 | Mitochondrial complex IV deficiency, nuclear type 6 | |
COX20 | Mitochondrial complex IV deficiency, nuclear type 11 | |
COX6B1 | Mitochondrial complex IV deficiency, nuclear type 7 | |
COX7B | Linear skin defects with multiple congenital anomalies 2 | Microphthalmia with Linear Skin Defects Syndrome |
CP | Cerebellar ataxia Hemosiderosis, systemic | Aceruloplasminemia Neurodegeneration with Brain Iron Accumulation Disorders Overview |
CPLANE1 | Joubert syndrome 17 Orofaciodigital syndrome VI | Joubert Syndrome |
CPS1 | Carbamoylphosphate synthetase I deficiency | Urea Cycle Disorders Overview |
CPT1A | CPT deficiency, hepatic | Carnitine Palmitoyltransferase 1A Deficiency |
CPT2 | CPT II deficiency, infantile CPT II deficiency, lethal neonatal CPT II deficiency, myopathic | Carnitine Palmitoyltransferase II Deficiency |
CRADD | Intellectual developmental disorder, autosomal recessive 34 | |
CRB1 | Leber congenital amaurosis 8 Pigmented paravenous chorioretinal atrophy Retinitis pigmentosa-12 | Nonsyndromic Retinitis Pigmentosa Overview |
CRB2 | Focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease | |
CRBN | Mental retardation, autosomal recessive 2 | |
CREB3L1 | Osteogenesis imperfecta, type XVI | |
CREBBP | Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome 1 | Rubinstein-Taybi Syndrome |
CRELD1 | Atrioventricular septal defect, partial | |
CRIPT | Short stature with microcephaly and distinctive facies | |
CRLF1 | Cold-induced sweating syndrome 1 | Cold-Induced Sweating Syndrome including Crisponi Syndrome |
CRPPA | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | |
CRTAP | Osteogenesis imperfecta, type VII | |
CRX | Cone-rod retinal dystrophy-2 Leber congenital amaurosis 7 | Nonsyndromic Retinitis Pigmentosa Overview |
CRYAA | Cataract 9, multiple types | |
CRYAB | Cardiomyopathy, dilated Cataract 16, multiple types Myopathy, myofibrillar Myopathy, myofibrillar | |
CSF1R | Brain abnormalities, neurodegeneration Leukoencephalopathy, diffuse hereditary | CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
CSF2RA | Surfactant metabolism dysfunction, pulmonary | |
CSF2RB | Surfactant metabolism dysfunction, pulmonary | |
CSF3R | Neutropenia, severe congenital | |
CSNK2A1 | Okur-Chung neurodevelopmental syndrome | |
CSNK2B | Poirier-Bienvenu neurodevelopmental syndrome | |
CSPP1 | Joubert syndrome 21 | Joubert Syndrome |
CSRP3 | Cardiomyopathy, hypertrophic | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
CSTA | Peeling skin syndrome 4 | |
CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | Progressive Myoclonic Epilepsy Type 1 |
CTC1 | Cerebroretinal microangiopathy with calcifications and cysts | Dyskeratosis Congenita |
CTCF | Mental retardation, autosomal dominant 21 | |
CTDP1 | Congenital cataracts, facial dysmorphism | Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
CTNNA2 | Cortical dysplasia, complex | |
CTNNB1 | Colorectal cancer, somatic Exudative vitreoretinopathy 7 Hepatocellular carcinoma, somatic Medulloblastoma, somatic Neurodevelopmental disorder with spastic diplegia and visual defects Ovarian cancer, somatic Pilomatricoma, somatic | |
CTNND1 | Blepharocheilodontic syndrome 2 | |
CTNS | Cystinosis, atypical nephropathic Cystinosis, late-onset juvenile or adolescent nephropathic Cystinosis, nephropathic Cystinosis, ocular nonnephropathic | Cystinosis |
CTPS1 | Immunodeficiency 24 | |
CTSA | Galactosialidosis | |
CTSD | Ceroid lipofuscinosis, neuronal | |
CTSK | Pycnodysostosis | Pycnodysostosis |
CTU2 | Microcephaly, facial dysmorphism | |
CUBN | Imerslund-Grasbeck syndrome 1 | |
CUL3 | Neurodevelopmental disorder with or without autism or seizures Pseudohypoaldosteronism, type IIE | Pseudohypoaldosteronism Type II |
CUL4B | Mental retardation, X-linked | |
CUL7 | 3-M syndrome 1 | Three M Syndrome |
CWC27 | Retinitis pigmentosa with or without skeletal anomalies | |
CWF19L1 | Spinocerebellar ataxia, autosomal recessive 17 | |
CXCR4 | Myelokathexis, isolated WHIM syndrome 1 | |
CYB5R3 | Methemoglobinemia, type I Methemoglobinemia, type II | |
CYBA | Chronic granulomatous disease 4, autosomal recessive | Chronic Granulomatous Disease |
CYBB | Chronic granulomatous disease, X-linked Immunodeficiency 34, mycobacteriosis | Chronic Granulomatous Disease |
CYC1 | Mitochondrial complex III deficiency, nuclear type 6 | |
CYP11A1 | Adrenal insufficiency, congenital | |
CYP11B1 | Adrenal hyperplasia, congenital Aldosteronism, glucocorticoid-remediable | |
CYP11B2 | Aldosterone to renin ratio raised (3) Hypoaldosteronism, congenital Hypoaldosteronism, congenital | |
CYP17A1 | 17,20-lyase deficiency, isolated 17-alpha-hydroxylase/17,20-lyase deficiency | |
CYP21A2 | Adrenal hyperplasia, congenital Hyperandrogenism, nonclassic type | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia |
CYP24A1 | Hypercalcemia, infantile | |
CYP27A1 | Cerebrotendinous xanthomatosis | Cerebrotendinous Xanthomatosis |
CYP27B1 | Vitamin D-dependent rickets, type I | |
CYP2U1 | Spastic paraplegia 56, autosomal recessive | |
CYP4F22 | Ichthyosis, congenital | |
CYP7B1 | Bile acid synthesis defect, congenital Spastic paraplegia 5A, autosomal recessive | |
D2HGDH | D-2-hydroxyglutaric aciduria | |
DAG1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | |
DARS1 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | |
DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation |
DBT | Maple syrup urine disease, type II | Maple Syrup Urine Disease |
DCAF17 | Woodhouse-Sakati syndrome | Neurodegeneration with Brain Iron Accumulation Disorders Overview Woodhouse-Sakati Syndrome |
DCDC2 | Nephronophthisis 19 Sclerosing cholangitis, neonatal | Nephronophthisis |
DCHS1 | Mitral valve prolapse 2 Van Maldergem syndrome 1 | |
DCLRE1C | Omenn syndrome Severe combined immunodeficiency, Athabascan type | |
DCX | Lissencephaly, X-linked Subcortical laminal heterotopia, X-linked | DCX-Related Disorders |
DDB2 | Xeroderma pigmentosum, group E | Xeroderma Pigmentosum |
DDC | Aromatic L-amino acid decarboxylase deficiency | |
DDHD1 | Spastic paraplegia 28, autosomal recessive | |
DDHD2 | Spastic paraplegia 54, autosomal recessive | |
DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type Warburg-Cinotti syndrome | |
DDX11 | Warsaw breakage syndrome | Warsaw Syndrome |
DDX3X | Intellectual developmental disorder, X-linked | DDX3X-Related Neurodevelopmental Disorder |
DDX59 | Orofaciodigital syndrome V | |
DDX6 | Intellectual developmental disorder with impaired language and dysmorphic facies | |
DEAF1 | Neurodevelopmental disorder with hypotonia, impaired expressive language Vulto-van Silfout-de Vries syndrome | |
DENND5A | Developmental and epileptic encephalopathy 49 | |
DEPDC5 | Epilepsy, familial focal | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy DEPDC5-Related Epilepsy |
DES | Cardiomyopathy, dilated Myopathy, myofibrillar Scapuloperoneal syndrome, neurogenic | Dilated Cardiomyopathy Overview |
DFNA5 | Deafness, autosomal dominant 5 | |
DFNB59 | Deafness, autosomal recessive 59 | |
DGAT1 | | |
DGKE | Nephrotic syndrome, type 7 | Genetic Atypical Hemolytic-Uremic Syndrome C3 Glomerulopathy |
DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Portal hypertension, noncirrhotic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | Deoxyguanosine Kinase Deficiency |
DHCR24 | Desmosterolosis | |
DHCR7 | Smith-Lemli-Opitz syndrome | Smith-Lemli-Opitz Syndrome |
DHDDS | Developmental delay and seizures with or without movement abnormalities Retinitis pigmentosa 59 | Nonsyndromic Retinitis Pigmentosa Overview |
DHH | 46XY gonadal dysgenesis with minifascicular neuropathy 46XY sex reversal 7 | Nonsyndromic Disorders of Testicular Development |
DHODH | Miller syndrome | |
DHTKD1 | Alpha-aminoadipic and alpha-ketoadipic aciduria | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
DHX16 | Neuromuscular disease and ocular or auditory anomalies with or without seizures | |
DHX30 | Neurodevelopmental disorder with severe motor impairment and absent language | |
DHX37 | 46, XY sex reversal 11 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | |
DIAPH1 | Deafness, autosomal dominant 1 Seizures, cortical blindness | Hereditary Hearing Loss and Deafness Overview |
DIS3L2 | Perlman syndrome | Wilms Tumor Predisposition |
DKC1 | Dyskeratosis congenita, X-linked | Dyskeratosis Congenita |
DLAT | Pyruvate dehydrogenase E2 deficiency | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
DLD | Dihydrolipoamide dehydrogenase deficiency | Dihydrolipoamide Dehydrogenase Deficiency Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
DLG3 | Intellectual developmental disorder, X-linked 90 | |
DLG4 | Intellectual developmental disorder 62 | |
DLL1 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Holoprosencephaly Overview |
DLL3 | Spondylocostal dysostosis 1, autosomal recessive | Spondylocostal Dysostosis, Autosomal Recessive |
DLL4 | Adams-Oliver syndrome 6 | Adams-Oliver Syndrome |
DLX5 | Split-hand/foot malformation 1 | |
DMD | Becker muscular dystrophy Cardiomyopathy, dilated Duchenne muscular dystrophy | Dystrophinopathies NR0B1-Related Adrenal Hypoplasia Congenita |
DMP1 | Hypophosphatemic rickets, AR | |
DMPK | Myotonic dystrophy 1 | Myotonic Dystrophy Type 1 |
DMXL2 | Developmental and epileptic encephalopathy 81 | |
DNA2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | |
DNAAF1 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAAF3 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAAF4 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAAF5 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAH11 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAH5 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAH9 | Ciliary dyskinesia, primary | |
DNAI1 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DNAJB6 | Muscular dystrophy, limb-girdle | |
DNAJC12 | Hyperphenylalaninemia, mild | |
DNAJC19 | 3-methylglutaconic aciduria, type V | |
DNAJC3 | | |
DNAJC5 | Ceroid lipofuscinosis, neuronal | |
DNM1 | Developmental and epileptic encephalopathy 31 | |
DNM1L | Encephalopathy, lethal Optic atrophy 5 | |
DNM2 | Centronuclear myopathy 1 Charcot-Marie-Tooth disease, axonal type 2M Charcot-Marie-Tooth disease, dominant intermediate B Lethal congenital contracture syndrome 5 | |
DNMT3A | Acute myeloid leukemia, somatic Heyn-Sproul-Jackson syndrome Tatton-Brown-Rahman syndrome | |
DNMT3B | Facioscapulohumeral muscular dystrophy 4, digenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | Facioscapulohumeral Muscular Dystrophy |
DOCK6 | Adams-Oliver syndrome 2 | Adams-Oliver Syndrome |
DOCK7 | Developmental and epileptic encephalopathy 23 | |
DOCK8 | Hyper-IgE recurrent infection syndrome, autosomal recessive | |
DOK7 | Fetal akinesia deformation sequence 3 Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
DOLK | Congenital disorder of glycosylation, type Im | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPAGT1 | Congenital disorder of glycosylation, type Ij Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPF2 | Coffin-Siris syndrome 7 | Coffin-Siris Syndrome |
DPM1 | Congenital disorder of glycosylation, type Ie | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPM2 | Congenital disorder of glycosylation, type Iu | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPYD | 5-fluorouracil toxicity Dihydropyrimidine dehydrogenase deficiency | |
DRC1 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
DSC2 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Arrhythmogenic right ventricular dysplasia 11 | Arrhythmogenic Right Ventricular Cardiomyopathy |
DSE | Ehlers-Danlos syndrome, musculocontractural type 2 | |
DSG1 | Erythroderma, congenital Keratosis palmoplantaris striata I, AD | |
DSG2 | Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated | Arrhythmogenic Right Ventricular Cardiomyopathy Dilated Cardiomyopathy Overview |
DSP | Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy, dilated Dilated cardiomyopathy with woolly hair, keratoderma Epidermolysis bullosa, lethal acantholytic Keratosis palmoplantaris striata II Skin fragility-woolly hair syndrome | Arrhythmogenic Right Ventricular Cardiomyopathy |
DST | Epidermolysis bullosa simplex 3, localized or generalized intermediate | |
DSTYK | Congenital anomalies of kidney and urinary tract 1 Spastic paraplegia 23 | |
DTNA | Left ventricular noncompaction 1, with or without congenital heart defects | |
DUOX2 | Thyroid dyshormonogenesis 6 | |
DUOXA2 | Thyroid dyshormonogenesis 5 | |
DVL1 | Robinow syndrome, autosomal dominant 2 | Autosomal Dominant Robinow Syndrome |
DVL3 | Robinow syndrome, autosomal dominant 3 | Autosomal Dominant Robinow Syndrome |
DYM | Dyggve-Melchior-Clausen disease Smith-McCort dysplasia | |
DYNC1H1 | Charcot-Marie-Tooth disease, axonal Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity-predominant 1 | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly | |
DYRK1A | Mental retardation, autosomal dominant 7 | DYRK1A Syndrome |
DYSF | Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle Myopathy, distal | Dysferlinopathy |
EARS2 | Combined oxidative phosphorylation deficiency 12 | |
EBF3 | Hypotonia, ataxia | EBF3 Neurodevelopmental Disorder |
EBP | Chondrodysplasia punctata, X-linked dominant MEND syndrome | Chondrodysplasia Punctata 2, X-Linked |
ECEL1 | Arthrogryposis, distal | |
ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency |
EDA | Ectodermal dysplasia 1, hypohidrotic Tooth agenesis, selective | Hypohidrotic Ectodermal Dysplasia |
EDAR | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type | Hypohidrotic Ectodermal Dysplasia |
EDARADD | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type | Hypohidrotic Ectodermal Dysplasia |
EDN3 | Waardenburg syndrome, type 4B | |
EDNRA | Mandibulofacial dysostosis with alopecia | |
EDNRB | ABCD syndrome Waardenburg syndrome, type 4A | |
EED | Cohen-Gibson syndrome | EED-Related Overgrowth |
EEF1A2 | Developmental and epileptic encephalopathy 33 Mental retardation, autosomal dominant 38 | |
EFEMP2 | Cutis laxa, autosomal recessive | EFEMP2-Related Cutis Laxa |
EFHC1 | | |
EFNB1 | Craniofrontonasal dysplasia | |
EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type | Mandibulofacial Dysostosis with Microcephaly |
EGR2 | Charcot-Marie-Tooth disease, type 1D Dejerine-Sottas disease Hypomyelinating neuropathy, congenital | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
EHMT1 | Kleefstra syndrome 1 | Kleefstra Syndrome |
EIF2AK3 | Wolcott-Rallison syndrome | |
EIF2B1 | Leukoencephalopathy with vanishing white matter | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B2 | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B3 | Leukoencephalopathy with vanishing white matter | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B4 | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B5 | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2S3 | MEHMO syndrome | |
EIF4A3 | Robin sequence with cleft mandible and limb anomalies | |
ELANE | Neutropenia, cyclic Neutropenia, severe congenital 1 | ELANE-Related Neutropenia |
ELMO2 | Vascular malformation, primary intraosseous | |
ELN | Cutis laxa, autosomal dominant Supravalvar aortic stenosis | Williams Syndrome |
ELOVL4 | Ichthyosis, spastic quadriplegia Spinocerebellar ataxia 34 Stargardt disease 3 | |
ELP1 | Dysautonomia, familial Medulloblastoma Osteogenesis imperfecta 21 | Familial Dysautonomia |
ELP2 | Intellectual developmental disorder, autosomal recessive 58 | |
EMC1 | Cerebellar atrophy, visual impairment | |
EMD | Emery-Dreifuss muscular dystrophy 1, X-linked | Emery-Dreifuss Muscular Dystrophy |
EMG1 | Bowen-Conradi syndrome | |
ENG | Telangiectasia, hereditary hemorrhagic | Hereditary Hemorrhagic Telangiectasia |
ENPP1 | Arterial calcification, generalized Cole disease Hypophosphatemic rickets, autosomal recessive | Generalized Arterial Calcification of Infancy |
ENTPD1 | Spastic paraplegia 64, autosomal recessive | |
EOGT | Adams-Oliver syndrome 4 | Adams-Oliver Syndrome |
EPB42 | Spherocytosis, type 5 | EPB42-Related Hereditary Spherocytosis |
EPCAM | Colorectal cancer, hereditary nonpolyposis Diarrhea 5, with tufting enteropathy | Lynch Syndrome |
EPG5 | Vici syndrome | |
EPHB4 | Capillary malformation-arteriovenous malformation 2 Lymphatic malformation 7 | Capillary Malformation-Arteriovenous Malformation Syndrome |
EPM2A | Epilepsy, progressive myoclonic 2A (Lafora) Epilepsy, progressive myoclonic 2B (Lafora) | Progressive Myoclonus Epilepsy, Lafora Type |
EPRS1 | | |
ERCC1 | Cerebrooculofacioskeletal syndrome 4 | Xeroderma Pigmentosum |
ERCC2 | Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D | Xeroderma Pigmentosum |
ERCC3 | Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum, group B | Xeroderma Pigmentosum |
ERCC4 | Fanconi anemia, complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum, type F/Cockayne syndrome | Xeroderma Pigmentosum Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
ERCC5 | Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome | Xeroderma Pigmentosum |
ERCC6 | Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome, type B Premature ovarian failure 11 UV-sensitive syndrome 1 | Cockayne Syndrome |
ERCC6L2 | Bone marrow failure syndrome 2 | |
ERCC8 | Cockayne syndrome, type A UV-sensitive syndrome 2 | Cockayne Syndrome |
ERF | Chitayat syndrome Craniosynostosis 4 | |
ERLIN1 | Spastic paraplegia 62 | |
ERLIN2 | Spastic paraplegia 18, autosomal recessive | |
ESCO2 | Juberg-Hayward syndrome Roberts-SC phocomelia syndrome | ESCO2 Spectrum Disorder |
ESRRB | Deafness, autosomal recessive 35 | Hereditary Hearing Loss and Deafness Overview |
ETFA | Glutaric acidemia IIA | Multiple Acyl-CoA Dehydrogenase Deficiency |
ETFB | Glutaric acidemia IIB | Multiple Acyl-CoA Dehydrogenase Deficiency |
ETFDH | Glutaric acidemia IIC | Multiple Acyl-CoA Dehydrogenase Deficiency |
ETHE1 | Ethylmalonic encephalopathy | Ethylmalonic Encephalopathy |
EVC | Ellis-van Creveld syndrome | |
EVC2 | Ellis-van Creveld syndrome Weyers acrofacial dysostosis | |
EXOSC3 | Pontocerebellar hypoplasia, type 1B | EXOSC3 Pontocerebellar Hypoplasia |
EXOSC8 | Pontocerebellar hypoplasia, type 1C | |
EXOSC9 | Pontocerebellar hypoplasia, type 1D | |
EXPH5 | Epidermolysis bullosa simplex 4, localized or generalized intermediate | Epidermolysis Bullosa Simplex |
EXT1 | Chondrosarcoma Exostoses, multiple | Hereditary Multiple Osteochondromas Trichorhinophalangeal Syndrome |
EXT2 | Exostoses, multiple Seizures, scoliosis | Hereditary Multiple Osteochondromas |
EXTL3 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | |
EYA1 | Anterior segment anomalies with or without cataract Branchiootic syndrome 1 Branchiootorenal syndrome 1, with or without cataracts | Branchiootorenal Spectrum Disorder |
EYA4 | Deafness, autosomal dominant 10 | Dilated Cardiomyopathy Overview Hereditary Hearing Loss and Deafness Overview |
EZH2 | Weaver syndrome | EZH2-Related Overgrowth |
F10 | Factor X deficiency | |
F11 | Factor XI deficiency, autosomal dominant Factor XI deficiency, autosomal recessive | |
F13A1 | Factor XIIIA deficiency | |
F2 | Dysprothrombinemia Hypoprothrombinemia Thrombophilia 1 due to thrombin defect | Prothrombin Thrombophilia |
F7 | Factor VII deficiency | |
F8 | Hemophilia A Thrombophilia 13, X-linked | Hemophilia A |
F9 | Hemophilia B Thrombophilia 8, X-linked | Hemophilia B |
FA2H | Spastic paraplegia 35, autosomal recessive | Fatty Acid Hydroxylase-Associated Neurodegeneration Neurodegeneration with Brain Iron Accumulation Disorders Overview |
FADD | Immunodeficiency 90 with encephalopathy, functional hyposplenia | |
FAH | Tyrosinemia, type I | |
FAM111A | Gracile bone dysplasia Kenny-Caffey syndrome, type 2 | |
FAM126A | Leukodystrophy, hypomyelinating | Hypomyelination and Congenital Cataract |
FAM149B1 | Joubert syndrome 36 | |
FAM161A | Retinitis pigmentosa 28 | Nonsyndromic Retinitis Pigmentosa Overview |
FAM20A | Amelogenesis imperfecta, type IG (enamel-renal syndrome) | |
FAM20C | Raine syndrome | |
FAM58A | STAR syndrome | |
FANCA | Fanconi anemia, complementation group A | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCB | Fanconi anemia, complementation group B | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCC | Fanconi anemia, complementation group C | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCD2 | Fanconi anemia, complementation group D2 | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCE | Fanconi anemia, complementation group E | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCF | Fanconi anemia, complementation group F | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCG | Fanconi anemia, complementation group G | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCI | Fanconi anemia, complementation group I | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCL | Fanconi anemia, complementation group L | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCM | Spermatogenic failure 28 | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FAR1 | Cataracts, spastic paraparesis Peroxisomal fatty acyl-CoA reductase 1 disorder | |
FARS2 | Combined oxidative phosphorylation deficiency 14 Spastic paraplegia 77, autosomal recessive | FARS2 Deficiency |
FASTKD2 | Combined oxidative phosphorylation deficiency 44 | |
FAT4 | Hennekam lymphangiectasia-lymphedema syndrome 2 Van Maldergem syndrome 2 | |
FBLN5 | Cutis laxa, autosomal recessive Macular degeneration, age-related Neuropathy, hereditary | FBLN5-Related Cutis Laxa |
FBN1 | Acromicric dysplasia Ectopia lentis, familial Geleophysic dysplasia 2 MASS syndrome Marfan lipodystrophy syndrome Marfan syndrome Stiff skin syndrome Weill-Marchesani syndrome 2, dominant | Weill-Marchesani Syndrome Heritable Thoracic Aortic Disease Overview FBN1-Related Marfan Syndrome Geleophysic Dysplasia |
FBN2 | Contractural arachnodactyly, congenital Macular degeneration, early-onset | Congenital Contractural Arachnodactyly |
FBP1 | Fructose-1,6-bisphosphatase deficiency | Fructose-1,6-Bisphosphatase Deficiency |
FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome |
FBXO11 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | |
FBXW11 | Neurodevelopmental, jaw | |
FCSK | Congenital disorder of glycosylation with defective fucosylation 2 | |
FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
FGA | Afibrinogenemia, congenital Amyloidosis, familial visceral Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital | |
FGB | Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypofibrinogenemia, congenital | |
FGD1 | Aarskog-Scott syndrome Mental retardation, X-linked syndromic 16 | |
FGD4 | Charcot-Marie-Tooth disease, type 4H | |
FGF10 | Aplasia of lacrimal and salivary glands LADD syndrome | |
FGF12 | Developmental and epileptic encephalopathy 47 | Brugada Syndrome |
FGF3 | Deafness, congenital with inner ear agenesis | Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia |
FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Holoprosencephaly Overview |
FGF9 | Multiple synostoses syndrome 3 | |
FGFR1 | Encephalocraniocutaneous lipomatosis, somatic mosaic Hartsfield syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Jackson-Weiss syndrome Osteoglophonic dysplasia Pfeiffer syndrome Trigonocephaly 1 | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency FGFR Craniosynostosis Syndromes Overview FGFR1-Related Hartsfield Syndrome Encephalocraniocutaneous Lipomatosis |
FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Apert syndrome Beare-Stevenson cutis gyrata syndrome Bent bone dysplasia syndrome Craniofacial-skeletal-dermatologic dysplasia Craniosynostosis, nonspecific (3) Crouzon syndrome Gastric cancer, somatic Jackson-Weiss syndrome LADD syndrome Pfeiffer syndrome Saethre-Chotzen syndrome Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion | FGFR Craniosynostosis Syndromes Overview Apert Syndrome |
FGFR3 | Achondroplasia Bladder cancer, somatic CATSHL syndrome Cervical cancer, somatic Colorectal cancer, somatic Crouzon syndrome with acanthosis nigricans Hypochondroplasia LADD syndrome Muenke syndrome Nevus, epidermal SADDAN Spermatocytic seminoma, somatic Thanatophoric dysplasia, type I Thanatophoric dysplasia, type II | Achondroplasia Thanatophoric Dysplasia Muenke Syndrome FGFR Craniosynostosis Syndromes Overview Hypochondroplasia |
FGG | Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia Hypofibrinogenemia, congenital | |
FH | Fumarase deficiency Hypercholesterolemia, familial LDL cholesterol level QTL2 Leiomyomatosis and renal cell cancer | FH Tumor Predisposition Syndrome Fumarate Hydratase Deficiency |
FHL1 | Emery-Dreifuss muscular dystrophy 6, X-linked Hemophagocytic lymphohistiocytosis, familial Myopathy, X-linked Reducing body myopathy, X-linked 1a Reducing body myopathy, X-linked 1b Scapuloperoneal myopathy, X-linked dominant | Emery-Dreifuss Muscular Dystrophy |
FKBP10 | Bruck syndrome 1 Osteogenesis imperfecta, type XI | |
FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type | FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome |
FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | |
FKTN | Cardiomyopathy, dilated Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | Fukuyama Congenital Muscular Dystrophy |
FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | |
FLCN | Birt-Hogg-Dube syndrome Colorectal cancer, somatic Pneumothorax, primary spontaneous Renal carcinoma, chromophobe | Birt-Hogg-Dube Syndrome Potocki-Lupski Syndrome |
FLNA | Cardiac valvular dysplasia, X-linked Congenital short bowel syndrome Frontometaphyseal dysplasia 1 Heterotopia, periventricular Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome Otopalatodigital syndrome, type I Otopalatodigital syndrome, type II Terminal osseous dysplasia | FLNA Deficiency X-Linked Otopalatodigital Spectrum Disorders |
FLNB | Atelosteogenesis, type I Atelosteogenesis, type III Boomerang dysplasia Larsen syndrome Spondylocarpotarsal synostosis syndrome | FLNB Disorders |
FLNC | Cardiomyopathy, familial hypertrophic Cardiomyopathy, familial restrictive 5 Myopathy, distal Myopathy, myofibrillar | |
FLT4 | Congenital heart defects, multiple types Hemangioma, capillary infantile Lymphatic malformation 1 | Milroy Disease |
FLVCR1 | Ataxia, posterior column | |
FLVCR2 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | |
FMN2 | Intellectual developmental disorder, autosomal recessive 47 | |
FMR1 | Fragile X syndrome Fragile X tremor/ataxia syndrome Premature ovarian failure 1 | FMR1 Disorders |
FN1 | Glomerulopathy with fibronectin deposits 2 Spondylometaphyseal dysplasia, corner fracture type | Spondylometaphyseal Dysplasia, Corner Fracture Type |
FOLR1 | Neurodegeneration due to cerebral folate transport deficiency | |
FOXC1 | Anterior segment dysgenesis 3, multiple subtypes Axenfeld-Rieger syndrome, type 3 | |
FOXC2 | Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Lymphedema-distichiasis syndrome | Lymphedema-Distichiasis Syndrome |
FOXE3 | Anterior segment dysgenesis 2, multiple subtypes Cataract 34, multiple types | Heritable Thoracic Aortic Disease Overview |
FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins | |
FOXG1 | Rett syndrome, congenital variant | |
FOXL2 | Blepharophimosis, epicanthus inversus Blepharophimosis, epicanthus inversus Premature ovarian failure 3 | Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome |
FOXN1 | T-cell immunodeficiency, congenital alopecia T-cell lymphopenia, infantile | |
FOXP1 | Mental retardation with language impairment and with or without autistic features | |
FOXP3 | Immunodysregulation, polyendocrinopathy | IPEX Syndrome |
FOXRED1 | Mitochondrial complex I deficiency, nuclear type 19 | |
FRAS1 | Fraser syndrome 1 | |
FREM1 | Bifid nose with or without anorectal and renal anomalies Manitoba oculotrichoanal syndrome Trigonocephaly 2 | FREM1 Autosomal Recessive Disorders |
FREM2 | Cryptophthalmos, unilateral or bilateral Fraser syndrome 2 | |
FRMPD4 | Intellectual developmental disorder, X-linked 104 | |
FRRS1L | Developmental and epileptic encephalopathy 37 | |
FTCD | Glutamate formiminotransferase deficiency | |
FTL | Hyperferritinemia-cataract syndrome L-ferritin deficiency, dominant and recessive Neurodegeneration with brain iron accumulation 3 | Neuroferritinopathy Neurodegeneration with Brain Iron Accumulation Disorders Overview |
FTSJ1 | Intellectual developmental disorder, X-linked 9 | |
FUCA1 | Fucosidosis | |
FUT8 | Congenital disorder of glycosylation with defective fucosylation 1 | |
FXN | Friedreich ataxia with retained reflexes Friedreich ataxia | Friedreich Ataxia |
G6PC | Glycogen storage disease Ia | |
G6PC3 | Dursun syndrome Neutropenia, severe congenital 4 | G6PC3 Deficiency |
G6PD | Hemolytic anemia, G6PD deficient (favism) | |
GAA | Glycogen storage disease II | Pompe Disease |
GABBR2 | Developmental and epileptic encephalopathy 59 Neurodevelopmental disorder with poor language and loss of hand skills | |
GABRA1 | Developmental and epileptic encephalopathy 19 | |
GABRB1 | Developmental and epileptic encephalopathy 45 | |
GABRB2 | Developmental and epileptic encephalopathy 92 | |
GABRB3 | Developmental and epileptic encephalopathy 43 | Prader-Willi Syndrome |
GABRG2 | Developmental and epileptic encephalopathy 74 Febrile seizures, familial Generalized epilepsy with febrile seizures plus, type 3 | |
GAD1 | Developmental and epileptic encephalopathy 89 | |
GALC | Krabbe disease | Krabbe Disease |
GALE | Galactose epimerase deficiency | Epimerase Deficiency Galactosemia |
GALK1 | Galactokinase deficiency with cataracts | |
GALNS | Mucopolysaccharidosis IVA | Mucopolysaccharidosis Type IVA |
GALT | Galactosemia | Classic Galactosemia and Clinical Variant Galactosemia Duarte Variant Galactosemia |
GAMT | Cerebral creatine deficiency syndrome 2 | Creatine Deficiency Disorders |
GAN | Giant axonal neuropathy-1 | GAN-Related Neurodegeneration |
GAS8 | Ciliary dyskinesia, primary | |
GATA1 | Anemia, X-linked Leukemia, megakaryoblastic Thrombocytopenia with beta-thalassemia, X-linked Thrombocytopenia, X-linked | GATA1-Related X-Linked Cytopenia Diamond-Blackfan Anemia Congenital Erythropoietic Porphyria |
GATA2 | Emberger syndrome Immunodeficiency 21 | |
GATA3 | Hypoparathyroidism, sensorineural deafness | |
GATA4 | Atrial septal defect 2 Atrioventricular septal defect 4 Tetralogy of Fallot Ventricular septal defect 1 | |
GATA6 | Atrial septal defect 9 Atrioventricular septal defect 5 Pancreatic agenesis and congenital heart defects Persistent truncus arteriosus Tetralogy of Fallot | |
GATAD2B | GAND syndrome | |
GATM | Cerebral creatine deficiency syndrome 3 Fanconi renotubular syndrome 1 | Creatine Deficiency Disorders |
GBA | Gaucher disease, perinatal lethal Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease, type IIIC | Gaucher Disease |
GBA2 | Spastic paraplegia 46, autosomal recessive | |
GBE1 | Glycogen storage disease IV Polyglucosan body disease, adult form | GBE1 Adult Polyglucosan Body Disease Glycogen Storage Disease Type IV |
GCDH | Glutaricaciduria, type I | Glutaric Acidemia Type I |
GCH1 | Dystonia, DOPA-responsive Hyperphenylalaninemia, BH4-deficient | GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
GCK | Diabetes mellitus, noninsulin-dependent Diabetes mellitus, permanent neonatal 1 Hyperinsulinemic hypoglycemia, familial MODY, type II | Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
GDAP1 | Charcot-Marie-Tooth disease, axonal Charcot-Marie-Tooth disease, axonal Charcot-Marie-Tooth disease, recessive intermediate Charcot-Marie-Tooth disease, type 4A | GDAP1-Related Hereditary Motor and Sensory Neuropathy |
GDF1 | Congenital heart defects, multiple types Right atrial isomerism (Ivemark) | |
GDF3 | Klippel-Feil syndrome 3, autosomal dominant Microphthalmia with coloboma 6 Microphthalmia, isolated 7 | |
GDF5 | Acromesomelic dysplasia 2A Acromesomelic dysplasia 2B Brachydactyly, type A1 Brachydactyly, type A2 Brachydactyly, type C Multiple synostoses syndrome 2 Symphalangism, proximal | |
GDF6 | Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Microphthalmia with coloboma 6, digenic Microphthalmia, isolated 4 Multiple synostoses syndrome 4 | |
GDI1 | Intellectual developmental disorder, X-linked 41 | |
GEMIN4 | Neurodevelopmental disorder with microcephaly, cataracts | |
GFAP | Alexander disease | Alexander Disease |
GFER | Myopathy, mitochondrial progressive | |
GFM1 | Combined oxidative phosphorylation deficiency 1 | |
GFM2 | Combined oxidative phosphorylation deficiency 39 | |
GFPT1 | Myasthenia, congenital | Congenital Myasthenic Syndromes Overview |
GHR | Growth hormone insensitivity, partial Increased responsiveness to growth hormone Laron dwarfism | |
GIPC3 | Deafness, autosomal recessive 15 | |
GJA1 | Atrioventricular septal defect 3 Craniometaphyseal dysplasia, autosomal recessive Erythrokeratodermia variabilis et progressiva 3 Hypoplastic left heart syndrome 1 Oculodentodigital dysplasia Oculodentodigital dysplasia, autosomal recessive Palmoplantar keratoderma with congenital alopecia Syndactyly, type III | |
GJA5 | Atrial fibrillation, familial Atrial standstill, digenic (GJA5/SCN5A) | 1q21.1 Recurrent Microdeletion |
GJA8 | Cataract 1, multiple types | 1q21.1 Recurrent Microdeletion |
GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant | GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes |
GJB2 | Bart-Pumphrey syndrome Deafness, autosomal dominant 3A Deafness, autosomal recessive 1A Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome Keratoderma, palmoplantar Vohwinkel syndrome | Nonsyndromic Hearing Loss and Deafness, DFNB1 Hereditary Hearing Loss and Deafness Overview Nonsyndromic Hearing Loss and Deafness, DFNA3 |
GJB3 | Deafness, autosomal dominant 2B Deafness, autosomal dominant Deafness, autosomal recessive (3) Deafness, digenic Erythrokeratodermia variabilis et progressiva 1 | Hereditary Hearing Loss and Deafness Overview |
GJC2 | Leukodystrophy, hypomyelinating Lymphatic malformation 3 | Pelizaeus-Merzbacher-Like Disease 1 |
GK | Glycerol kinase deficiency | NR0B1-Related Adrenal Hypoplasia Congenita |
GLA | Fabry disease Fabry disease, cardiac variant | Fabry Disease |
GLB1 | GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III Mucopolysaccharidosis type IVB (Morquio) | GLB1-Related Disorders |
GLDC | Glycine encephalopathy | Nonketotic Hyperglycinemia |
GLDN | Lethal congenital contracture syndrome 11 | |
GLE1 | Congenital arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome 1 | |
GLI2 | Culler-Jones syndrome Holoprosencephaly 9 | Holoprosencephaly Overview |
GLI3 | Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial Polydactyly, preaxial | Greig Cephalopolysyndactyly Syndrome Pallister-Hall Syndrome Esophageal Atresia/Tracheoesophageal Fistula Overview |
GLIS2 | Nephronophthisis 7 | Nephronophthisis |
GLIS3 | Diabetes mellitus, neonatal | |
GLMN | Glomuvenous malformations | |
GLRA1 | Hyperekplexia 1 | Hereditary Hyperekplexia Overview |
GLRX5 | Anemia, sideroblastic Spasticity, childhood-onset | |
GLUD1 | Hyperinsulinism-hyperammonemia syndrome | Familial Hyperinsulinism |
GLUL | Glutamine deficiency, congenital | |
GLYCTK | D-glyceric aciduria | |
GM2A | GM2-gangliosidosis, AB variant | |
GMNN | Meier-Gorlin syndrome 6 | |
GMPPA | Alacrima, achalasia | |
GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | Congenital Myasthenic Syndromes Overview |
GNA11 | Hypocalcemia, autosomal dominant 2 Hypocalciuric hypercalcemia, type II | |
GNAI3 | Auriculocondylar syndrome 1 | |
GNAO1 | Developmental and epileptic encephalopathy 17 Neurodevelopmental disorder with involuntary movements | |
GNAQ | Capillary malformations, congenital Sturge-Weber syndrome, somatic | |
GNAS | ACTH-independent macronodular adrenal hyperplasia McCune-Albright syndrome, somatic Osseous heteroplasia, progressive Pituitary adenoma 3, multiple types Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Ic Pseudopseudohypoparathyroidism | Fibrous Dysplasia/McCune-Albright Syndrome Disorders of GNAS Inactivation |
GNB1 | Intellectual developmental disorder, autosomal dominant 42 Leukemia, acute lymphoblastic Myelodysplastic syndrome, somatic | GNB1 Encephalopathy |
GNB5 | Intellectual developmental disorder with cardiac arrhythmia Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | GNB5-Related Neurodevelopmental Disorder |
GNE | Nonaka myopathy Sialuria | GNE Myopathy |
GNPAT | Rhizomelic chondrodysplasia punctata, type 2 | |
GNPTAB | Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta | GNPTAB-Related Disorders |
GNPTG | Mucolipidosis III Gamma | |
GNS | Mucopolysaccharidosis type IIID | Mucopolysaccharidosis Type III |
GORAB | Geroderma osteodysplasticum | |
GOSR2 | Epilepsy, progressive myoclonic 6 | |
GOT2 | Developmental and epileptic encephalopathy 82 | |
GPAA1 | Glycosylphosphatidylinositol biosynthesis defect 15 | |
GPC3 | Simpson-Golabi-Behmel syndrome, type 1 Wilms tumor, somatic | Simpson-Golabi-Behmel Syndrome Type 1 Wilms Tumor Predisposition |
GPC6 | Omodysplasia 1 | |
GPD1L | Brugada syndrome 2 | Brugada Syndrome |
GPHN | Molybdenum cofactor deficiency C | Molybdenum Cofactor Deficiency |
GPR143 | Nystagmus 6, congenital Ocular albinism, type I | |
GPR56 | Polymicrogyria, bilateral frontoparietal Polymicrogyria, bilateral perisylvian | |
GPR98 | Usher syndrome, type 2C Usher syndrome, type 2C | |
GPSM2 | Chudley-McCullough syndrome | |
GPT2 | Neurodevelopmental disorder with microcephaly and spastic paraplegia | |
GPX4 | Spondylometaphyseal dysplasia, Sedaghatian type | |
GREB1L | Deafness, autosomal dominant 80 Renal hypodysplasia/aplasia 3 | |
GRHL2 | Corneal dystrophy, posterior polymorphous Deafness, autosomal dominant 28 Ectodermal dysplasia/short stature syndrome | Hereditary Hearing Loss and Deafness Overview |
GRHL3 | van der Woude syndrome 2 | |
GRHPR | Hyperoxaluria, primary | Primary Hyperoxaluria Type 2 |
GRIA2 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | |
GRIA3 | Intellectual developmental disorder, X-linked | |
GRID2 | Spinocerebellar ataxia, autosomal recessive 18 | |
GRIK2 | Intellectual developmental disorder, autosomal recessive 6 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
GRIN1 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | GRIN1-Related Neurodevelopmental Disorder |
GRIN2A | Epilepsy, focal | GRIN2A-Related Speech Disorders and Epilepsy |
GRIN2B | Developmental and epileptic encephalopathy 27 Intellectual developmental disorder, autosomal dominant 6 | GRIN2B-Related Neurodevelopmental Disorder |
GRIN2D | Developmental and epileptic encephalopathy 46 | |
GRIP1 | Fraser syndrome 3 | |
GRM1 | Spinocerebellar ataxia 44 Spinocerebellar ataxia, autosomal recessive 13 | |
GRM7 | Neurodevelopmental disorder with seizures, hypotonia | |
GSS | Glutathione synthetase deficiency Hemolytic anemia due to glutathione synthetase deficiency | |
GTF2H5 | Trichothiodystrophy 3, photosensitive | |
GTPBP3 | Combined oxidative phosphorylation deficiency 23 | |
GUCY2C | Diarrhea 6 Meconium ileus | |
GUF1 | | |
GUSB | Mucopolysaccharidosis VII | |
GYS1 | Glycogen storage disease 0, muscle | |
GYS2 | Glycogen storage disease 0, liver | |
GZF1 | Joint laxity, short stature | |
H1-4 | HIST1H1E Syndrome | |
H19 | Wilms Tumor Predisposition | Silver-Russell Syndrome Beckwith-Wiedemann Syndrome |
HACE1 | Spastic paraplegia and psychomotor retardation with or without seizures | |
HADH | Familial Hyperinsulinism | |
HADHA | Fatty liver, acute HELLP syndrome, maternal LCHAD deficiency Mitochondrial trifunctional protein deficiency | |
HADHB | Trifunctional protein deficiency | |
HARS1 | Charcot-Marie-Tooth disease, axonal Usher syndrome type 3B | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
HAX1 | Neutropenia, severe congenital 3 | |
HBA1 | Erythrocytosis 7 Heinz body anemias, alpha- Hemoglobin H disease, nondeletional Methemoglobinemia, alpha type Thalassemias, alpha- | Alpha-Thalassemia |
HBA2 | Erythrocytosis 7 Heinz body anemia Hemoglobin H disease, deletional and nondeletional Thalassemia, alpha- | Alpha-Thalassemia |
HBB | Delta-beta thalassemia Erythrocytosis 6 Heinz body anemia Hereditary persistence of fetal hemoglobin Methemoglobinemia, beta type Sickle cell anemia Thalassemia, beta Thalassemia-beta, dominant inclusion-body | Sickle Cell Disease Beta-Thalassemia |
HCCS | Linear skin defects with multiple congenital anomalies 1 | Microphthalmia with Linear Skin Defects Syndrome |
HCFC1 | Methylmalonic aciduria and homocysteinemia, cblX type | Disorders of Intracellular Cobalamin Metabolism |
HCN1 | Developmental and epileptic encephalopathy 24 Generalized epilepsy with febrile seizures plus, type 10 | |
HDAC4 | | |
HDAC8 | Cornelia de Lange syndrome 5 | Cornelia de Lange Syndrome |
HECW2 | Neurodevelopmental disorder with hypotonia, seizures | |
HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting | Megalencephalic Leukoencephalopathy with Subcortical Cysts |
HERC2 | Intellectual developmental disorder, autosomal recessive 38 | Prader-Willi Syndrome |
HESX1 | Growth hormone deficiency with pituitary anomalies Pituitary hormone deficiency, combined Septooptic dysplasia | |
HEXA | GM2-gangliosidosis, several forms Tay-Sachs disease | HEXA Disorders |
HEXB | Sandhoff disease, infantile | |
HFE | Hemochromatosis | HFE Hemochromatosis |
HGD | Alkaptonuria | Alkaptonuria |
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C) Retinitis pigmentosa 73 | Mucopolysaccharidosis Type III |
HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency | |
HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
HIVEP2 | Mental retardation, autosomal dominant 43 | |
HK1 | Hemolytic anemia due to hexokinase deficiency Neurodevelopmental disorder with visual defects and brain anomalies Neuropathy, hereditary motor and sensory Retinitis pigmentosa 79 | |
HLCS | Holocarboxylase synthetase deficiency | |
HMGCL | HMG-CoA lyase deficiency | |
HMGCS2 | HMG-CoA synthase-2 deficiency | |
HMX1 | Oculoauricular syndrome | |
HNF1A | Diabetes mellitus, insulin-dependent Hepatic adenoma, somatic MODY, type III Renal cell carcinoma | Maturity-Onset Diabetes of the Young Overview |
HNF1B | Renal cysts and diabetes syndrome Type 2 diabetes mellitus | 17q12 Recurrent Deletion Syndrome Maturity-Onset Diabetes of the Young Overview |
HNF4A | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MODY, type I | Familial Hyperinsulinism Maturity-Onset Diabetes of the Young Overview |
HNRNPH2 | Intellectual developmental disorder, X-linked | |
HNRNPK | Au-Kline syndrome | Au-Kline Syndrome |
HNRNPU | Developmental and epileptic encephalopathy 54 | HNRNPU-Related Neurodevelopmental Disorder |
HOXA1 | Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome | |
HOXA13 | Hand-foot-uterus syndrome | Hand-Foot-Genital Syndrome |
HOXC13 | Ectodermal dysplasia 9, hair/nail type | |
HOXD13 | Brachydactyly, type D Brachydactyly, type E Syndactyly, type V Synpolydactyly 1 | |
HPD | Hawkinsinuria Tyrosinemia, type III | |
HPDL | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Spastic paraplegia 83, autosomal recessive | |
HPGD | Cranioosteoarthropathy Hypertrophic osteoarthropathy, primary | |
HPRT1 | Hyperuricemia, HRPT-related Lesch-Nyhan syndrome | HPRT1 Disorders |
HPS1 | Hermansky-Pudlak syndrome 1 | Hermansky-Pudlak Syndrome |
HPS3 | Hermansky-Pudlak syndrome 3 | Hermansky-Pudlak Syndrome |
HPS4 | Hermansky-Pudlak syndrome 4 | Hermansky-Pudlak Syndrome |
HPS5 | Hermansky-Pudlak syndrome 5 | Hermansky-Pudlak Syndrome |
HPSE2 | Urofacial syndrome 1 | Urofacial Syndrome |
HRAS | Bladder cancer, somatic Congenital myopathy with excess of muscle spindles Costello syndrome Nevus sebaceous or woolly hair nevus, somatic Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic Spitz nevus or nevus spilus, somatic Thyroid carcinoma, follicular | Costello Syndrome |
HSD11B2 | Apparent mineralocorticoid excess | |
HSD17B10 | HSD10 mitochondrial disease | |
HSD17B3 | Pseudohermaphroditism, male | |
HSD17B4 | D-bifunctional protein deficiency Perrault syndrome 1 | Perrault Syndrome |
HSD3B2 | Adrenal hyperplasia, congenital | |
HSD3B7 | Bile acid synthesis defect, congenital | |
HSPA9 | Anemia, sideroblastic Even-plus syndrome | |
HSPB8 | Charcot-Marie-Tooth disease, axonal Neuronopathy, distal hereditary motor | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
HSPD1 | Leukodystrophy, hypomyelinating Spastic paraplegia 13, autosomal dominant | |
HSPG2 | Dyssegmental dysplasia, Silverman-Handmaker type Schwartz-Jampel syndrome, type 1 | |
HTRA1 | CARASIL syndrome Cerebral arteriopathy, autosomal dominant | HTRA1 Disorder |
HUWE1 | Intellectual developmental disorder, X-linked | |
HYAL1 | | |
HYDIN | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
HYLS1 | Hydrolethalus syndrome | |
IARS1 | Growth retardation, impaired intellectual development | |
IARS2 | Cataracts, growth hormone deficiency | |
IBA57 | Multiple mitochondrial dysfunctions syndrome 3 | |
ICOS | Immunodeficiency, common variable | |
IDS | Mucopolysaccharidosis II | Mucopolysaccharidosis Type II |
IDUA | Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Is | Mucopolysaccharidosis Type I |
IER3IP1 | Microcephaly, epilepsy | |
IFIH1 | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 | Aicardi-Goutieres Syndrome |
IFITM5 | Osteogenesis imperfecta, type V | |
IFNGR2 | Immunodeficiency 28, mycobacteriosis | |
IFT122 | Cranioectodermal dysplasia 1 | Cranioectodermal Dysplasia |
IFT140 | Retinitis pigmentosa 80 Short-rib thoracic dysplasia 9 with or without polydactyly | Cranioectodermal Dysplasia |
IFT172 | Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly | Joubert Syndrome Nephronophthisis |
IFT27 | Bardet-Biedl syndrome 19 | Bardet-Biedl Syndrome Overview |
IFT43 | Short-rib thoracic dysplasia 18 with polydactyly | Cranioectodermal Dysplasia |
IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly | |
IGF1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | |
IGF1R | Insulin-like growth factor I, resistance to | |
IGF2 | Silver-Russell syndrome 3 | Wilms Tumor Predisposition Silver-Russell Syndrome Beckwith-Wiedemann Syndrome |
IGFBP7 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | |
IGHMBP2 | Charcot-Marie-Tooth disease, axonal Neuronopathy, distal hereditary motor | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
IGSF1 | Hypothyroidism, central | |
IHH | Acrocapitofemoral dysplasia Brachydactyly, type A1 | |
IKBKAP | Dysautonomia, familial Medulloblastoma | |
IKBKB | Immunodeficiency 15A Immunodeficiency 15B | |
IKBKG | Ectodermal dysplasia and immunodeficiency 1 Immunodeficiency 33 Incontinentia pigmenti | Incontinentia Pigmenti |
IL10RA | Inflammatory bowel disease 28, early onset | |
IL11RA | Craniosynostosis and dental anomalies | |
IL12RB1 | Immunodeficiency 30 | |
IL1RAPL1 | Intellectual developmental disorder, X-linked 21 | NR0B1-Related Adrenal Hypoplasia Congenita |
IL21R | Immunodeficiency 56 | |
IL2RA | Immunodeficiency 41 with lymphoproliferation and autoimmunity | |
IL2RG | Combined immunodeficiency, X-linked Severe combined immunodeficiency, X-linked | X-Linked Severe Combined Immunodeficiency |
IL7R | Severe combined immunodeficiency, T-cell negative | |
ILDR1 | Deafness, autosomal recessive 42 | |
INPP5E | Joubert syndrome 1 Mental retardation, truncal obesity | Joubert Syndrome |
INPP5K | Muscular dystrophy, congenital | |
INPPL1 | Opsismodysplasia | |
INS | Diabetes mellitus, insulin-dependent Diabetes mellitus, permanent neonatal 4 Hyperproinsulinemia Maturity-onset diabetes of the young, type 10 | Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
INSR | Diabetes mellitus, insulin-resistant Hyperinsulinemic hypoglycemia, familial Leprechaunism Rabson-Mendenhall syndrome | INSR-Related Severe Syndromic Insulin Resistance |
INVS | Nephronophthisis 2, infantile | Nephronophthisis |
IQCB1 | Senior-Loken syndrome 5 | Nephronophthisis |
IQSEC1 | Intellectual developmental disorder with short stature and behavioral abnormalities | |
IQSEC2 | Intellectual developmental disorder, X-linked 1 | |
IRAK4 | Immunodeficiency 67 | |
IRF6 | Popliteal pterygium syndrome 1 van der Woude syndrome 1 | IRF6-Related Disorders |
IRF8 | Immunodeficiency 32A, mycobacteriosis Immunodeficiency 32B, monocyte and dendritic cell deficiency | |
IRX5 | Hamamy syndrome | |
ISCA2 | Multiple mitochondrial dysfunctions syndrome 4 | ISCA2-Related Mitochondrial Disorder |
ISPD | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | |
ITFG2 | | |
ITGA3 | Interstitial lung disease, nephrotic syndrome | |
ITGA6 | Epidermolysis bullosa, junctional | Epidermolysis Bullosa with Pyloric Atresia |
ITGA7 | Muscular dystrophy, congenital | |
ITGA8 | Renal hypodysplasia/aplasia 1 | |
ITGB4 | Epidermolysis bullosa of hands and feet Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional | Junctional Epidermolysis Bullosa Epidermolysis Bullosa with Pyloric Atresia |
ITK | Lymphoproliferative syndrome 1 | |
ITPA | Developmental and epileptic encephalopathy 35 | |
ITPR1 | Gillespie syndrome Spinocerebellar ataxia 15 Spinocerebellar ataxia 29, congenital nonprogressive | Spinocerebellar Ataxia Type 15 |
IVD | Isovaleric acidemia | |
JAG1 | Alagille syndrome 1 Charcot-Marie-Tooth disease, axonal Tetralogy of Fallot | Alagille Syndrome |
JAGN1 | Neutropenia, severe congenital | |
JAK3 | SCID, autosomal recessive | |
JAM2 | Basal ganglia calcification, idiopathic | |
JAM3 | Hemorrhagic destruction of the brain, subependymal calcification | |
JUP | Naxos disease | Arrhythmogenic Right Ventricular Cardiomyopathy |
KANK1 | Cerebral palsy, spastic quadriplegic | |
KANSL1 | Koolen-De Vries syndrome | Koolen-de Vries Syndrome |
KARS1 | Deafness, autosomal recessive 89 Deafness, congenital Leukoencephalopathy, progressive | |
KAT5 | Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance | |
KAT6A | Arboleda-Tham syndrome | |
KAT6B | Genitopatellar syndrome SBBYSS syndrome | KAT6B Disorders |
KAT8 | Li-Ghorgani-Weisz-Hubshman syndrome | |
KATNB1 | Lissencephaly 6, with microcephaly | |
KBTBD13 | Nemaline myopathy 6, autosomal dominant | |
KCNA1 | Episodic ataxia/myokymia syndrome | Episodic Ataxia Type 1 |
KCNA2 | Developmental and epileptic encephalopathy 32 | |
KCNA5 | Atrial fibrillation, familial | |
KCNB1 | Developmental and epileptic encephalopathy 26 | |
KCNC1 | Epilepsy, progressive myoclonic 7 | |
KCNC3 | Spinocerebellar ataxia 13 | Spinocerebellar Ataxia Type 13 |
KCNE1 | Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 | Long QT Syndrome Jervell and Lange-Nielsen Syndrome |
KCNE2 | Atrial fibrillation, familial Long QT syndrome 6 | Long QT Syndrome |
KCNH1 | Temple-Baraitser syndrome Zimmermann-Laband syndrome 1 | |
KCNH2 | Long QT syndrome 2 Short QT syndrome 1 | Long QT Syndrome Brugada Syndrome |
KCNJ1 | Bartter syndrome, type 2 | |
KCNJ10 | Enlarged vestibular aqueduct, digenic SESAME syndrome | Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct |
KCNJ11 | Diabetes mellitus, transient neonatal 3 Diabetes, permanent neonatal 2 Hyperinsulinemic hypoglycemia, familial Maturity-onset diabetes of the young, type 13 | Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
KCNJ2 | Andersen syndrome Atrial fibrillation, familial Short QT syndrome 3 | Long QT Syndrome Andersen-Tawil Syndrome |
KCNJ6 | Keppen-Lubinsky syndrome | |
KCNMA1 | Cerebellar atrophy, developmental delay Liang-Wang syndrome Paroxysmal nonkinesigenic dyskinesia | |
KCNQ1 | Atrial fibrillation, familial Jervell and Lange-Nielsen syndrome Long QT syndrome 1 Short QT syndrome 2 | Long QT Syndrome Beckwith-Wiedemann Syndrome Jervell and Lange-Nielsen Syndrome |
KCNQ2 | Developmental and epileptic encephalopathy 7 Myokymia Seizures, benign neonatal | KCNQ2-Related Disorders |
KCNQ3 | Seizures, benign neonatal | KCNQ3-Related Disorders |
KCNQ4 | Deafness, autosomal dominant 2A | DFNA2 Nonsyndromic Hearing Loss Hereditary Hearing Loss and Deafness Overview |
KCNQ5 | Mental retardation, autosomal dominant 46 | |
KCNT1 | Developmental and epileptic encephalopathy 14 Epilepsy nocturnal frontal lobe | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1-Related Epilepsy |
KCTD1 | Scalp-ear-nipple syndrome | |
KCTD7 | Epilepsy, progressive myoclonic 3 | |
KDM5C | Intellectual developmental disorder, X-linked syndromic | |
KDM6A | Kabuki syndrome 2 | Kabuki Syndrome |
KIAA0586 | Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly | Joubert Syndrome |
KIAA1109 | Alkuraya-Kucinskas syndrome | |
KIDINS220 | Spastic paraplegia, intellectual disability Ventriculomegaly and arthrogryposis | |
KIF11 | Microcephaly with or without chorioretinopathy, lymphedema | |
KIF1A | NESCAV syndrome Neuropathy, hereditary sensory Spastic paraplegia 30, autosomal dominant Spastic paraplegia 30, autosomal recessive | Hereditary Sensory and Autonomic Neuropathy Type II |
KIF1C | Spastic ataxia 2, autosomal recessive | |
KIF21A | Fibrosis of extraocular muscles, congenital Fibrosis of extraocular muscles, congenital | Congenital Fibrosis of the Extraocular Muscles Overview |
KIF22 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | |
KIF2A | Cortical dysplasia, complex | |
KIF5C | Cortical dysplasia, complex | |
KIF7 | Acrocallosal syndrome Joubert syndrome 12 | Joubert Syndrome |
KIFBP | Goldberg-Shprintzen megacolon syndrome | |
KIRREL3 | | |
KIT | Gastrointestinal stromal tumor, familial Germ cell tumors, somatic Leukemia, acute myeloid Mastocytosis, cutaneous Mastocytosis, systemic Piebaldism | |
KLF1 | Blood group--Lutheran inhibitor Dyserythropoietic anemia, congenital | |
KLHL15 | Intellectual developmental disorder, X-linked 103 | |
KLHL40 | Nemaline myopathy 8, autosomal recessive | |
KLHL41 | Nemaline myopathy 9 | |
KLHL7 | PERCHING syndrome Retinitis pigmentosa 42 | Nonsyndromic Retinitis Pigmentosa Overview |
KMT2A | Wiedemann-Steiner syndrome | |
KMT2B | Dystonia 28, childhood-onset | KMT2B-Related Dystonia |
KMT2C | Kleefstra syndrome 2 | |
KMT2D | Kabuki syndrome 1 | Kabuki Syndrome |
KMT2E | O'Donnell-Luria-Rodan syndrome | |
KMT5B | Mental retardation, autosomal dominant 51 | |
KNL1 | Microcephaly 4, primary | |
KPTN | Mental retardation, autosomal recessive 41 | |
KRAS | Arteriovenous malformation of the brain, somatic Bladder cancer, somatic Breast cancer, somatic Cardiofaciocutaneous syndrome 2 Gastric cancer, somatic Leukemia, acute myeloid Lung cancer, somatic Noonan syndrome 3 Oculoectodermal syndrome, somatic Pancreatic carcinoma, somatic RAS-associated autoimmune leukoproliferative disorder Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | Noonan Syndrome Cardiofaciocutaneous Syndrome Encephalocraniocutaneous Lipomatosis |
KRIT1 | Cavernous malformations of CNS and retina Cerebral cavernous malformations-1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | Cerebral Cavernous Malformation, Famiilial |
KRT10 | Epidermolytic hyperkeratosis Ichthyosis with confetti Ichthyosis, cyclic | |
KRT14 | Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex 1A, generalized severe Epidermolysis bullosa simplex 1B, generalized intermediate Epidermolysis bullosa simplex 1C, localized Epidermolysis bullosa simplex 1D, generalized Naegeli-Franceschetti-Jadassohn syndrome | Epidermolysis Bullosa Simplex |
KRT16 | Pachyonychia congenita 1 Palmoplantar keratoderma, nonepidermolytic | Pachyonychia Congenita |
KRT17 | Pachyonychia congenita 2 Steatocystoma multiplex | Pachyonychia Congenita |
KRT5 | Dowling-Degos disease 1 Epidermolysis bullosa simplex 2A, generalized severe Epidermolysis bullosa simplex 2B, generalized intermediate Epidermolysis bullosa simplex 2C, localized Epidermolysis bullosa simplex 2D, generalized Epidermolysis bullosa simplex 2E, with migratory circinate erythema Epidermolysis bullosa simplex 2F, with mottled pigmentation | Epidermolysis Bullosa Simplex |
KRT6A | Pachyonychia congenita 3 | Pachyonychia Congenita |
KRT8 | Cirrhosis, cryptogenic | |
L1CAM | CRASH syndrome Corpus callosum, partial agenesis of Hydrocephalus due to aqueductal stenosis Hydrocephalus with Hirschsprung disease Hydrocephalus with congenital idiopathic intestinal pseudoobstruction MASA syndrome | L1 Syndrome |
L2HGDH | L-2-hydroxyglutaric aciduria | |
LAMA1 | Poretti-Boltshauser syndrome | |
LAMA2 | Muscular dystrophy, congenital Muscular dystrophy, limb-girdle | LAMA2 Muscular Dystrophy |
LAMA3 | Cardiomyopathy, dilated Epidermolysis bullosa, generalized atrophic benign Epidermolysis bullosa, junctional Laryngoonychocutaneous syndrome | Junctional Epidermolysis Bullosa |
LAMB1 | Lissencephaly 5 | |
LAMB2 | Nephrotic syndrome, type 5 Pierson syndrome | Congenital Myasthenic Syndromes Overview |
LAMB3 | Amelogenesis imperfecta, type IA Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional | Junctional Epidermolysis Bullosa |
LAMC2 | Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional | Junctional Epidermolysis Bullosa |
LAMC3 | Cortical malformations, occipital | |
LAMP2 | Danon disease | Danon Disease |
LARGE | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B | |
LARGE1 | | |
LARP7 | Alazami syndrome | |
LARS2 | Hydrops, lactic acidosis Perrault syndrome 4 | Perrault Syndrome |
LAS1L | Wilson-Turner syndrome | |
LBR | Greenberg skeletal dysplasia Pelger-Huet anomaly with mild skeletal anomalies Pelger-Huet anomaly | |
LDB3 | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 3 Myopathy, myofibrillar | Dilated Cardiomyopathy Overview |
LDLR | Hypercholesterolemia, familial LDL cholesterol level QTL2 | Familial Hypercholesterolemia |
LEMD3 | Buschke-Ollendorff syndrome Osteopoikilosis with or without melorheostosis | |
LEPR | Obesity, morbid | |
LETM1 | | |
LFNG | Spondylocostal dysostosis 3, autosomal recessive | Spondylocostal Dysostosis, Autosomal Recessive |
LGI4 | Arthrogryposis multiplex congenita 1, neurogenic | |
LHFPL5 | Deafness, autosomal recessive 67 | Hereditary Hearing Loss and Deafness Overview |
LHX3 | Pituitary hormone deficiency, combined | |
LHX4 | Pituitary hormone deficiency, combined | |
LIAS | Hyperglycinemia, lactic acidosis | |
LIFR | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | |
LIG4 | LIG4 syndrome | |
LINS1 | Intellectual developmental disorder, autosomal recessive 27 | |
LIPA | Cholesteryl ester storage disease Wolman disease | Lysosomal Acid Lipase Deficiency |
LIPT1 | Lipoyltransferase 1 deficiency | |
LITAF | Charcot-Marie-Tooth disease, type 1C | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | Disorders of Intracellular Cobalamin Metabolism |
LMNA | Cardiomyopathy, dilated Charcot-Marie-Tooth disease, type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy 3, autosomal recessive Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria Lipodystrophy, familial partial Malouf syndrome Mandibuloacral dysplasia Muscular dystrophy, congenital Restrictive dermopathy, lethal | Hutchinson-Gilford Progeria Syndrome Dilated Cardiomyopathy Overview Charcot-Marie-Tooth Hereditary Neuropathy Overview Emery-Dreifuss Muscular Dystrophy LMNA-Related Dilated Cardiomyopathy |
LMOD3 | Nemaline myopathy 10 | |
LMX1B | Focal segmental glomerulosclerosis 10 Nail-patella syndrome | Nail-Patella Syndrome |
LONP1 | CODAS syndrome | |
LOXHD1 | Deafness, autosomal recessive 77 | Hereditary Hearing Loss and Deafness Overview |
LPIN2 | Majeed syndrome | |
LRBA | Immunodeficiency, common variable | |
LRP2 | Donnai-Barrow syndrome | Donnai-Barrow Syndrome |
LRP4 | Cenani-Lenz syndactyly syndrome Sclerosteosis 2 | Congenital Myasthenic Syndromes Overview |
LRP5 | Exudative vitreoretinopathy 4 Hyperostosis, endosteal Osteopetrosis, autosomal dominant 1 Osteoporosis-pseudoglioma syndrome Osteosclerosis Polycystic liver disease 4 with or without kidney cysts van Buchem disease, type 2 | |
LRPPRC | Mitochondrial complex IV deficiency, nuclear type 5 | |
LRRC56 | Ciliary dyskinesia, primary | |
LRRC6 | Ciliary dyskinesia, primary | |
LRSAM1 | Charcot-Marie-Tooth disease, axonal | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
LRTOMT | Deafness, autosomal recessive 63 | Hereditary Hearing Loss and Deafness Overview |
LTBP2 | Dental anomalies and short stature Geleophysic dysplasia 3 Glaucoma 3, primary congenital Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | Weill-Marchesani Syndrome Primary Congenital Glaucoma |
LTBP3 | Dental anomalies and short stature Geleophysic dysplasia 3 Glaucoma 3, primary congenital Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | Geleophysic Dysplasia |
LTBP4 | Cutis laxa, autosomal recessive | LTBP4-Related Cutis Laxa |
LYRM7 | Mitochondrial complex III deficiency, nuclear type 8 | |
LYST | Chediak-Higashi syndrome | Chediak-Higashi Syndrome |
LZTFL1 | Bardet-Biedl syndrome 17 | Bardet-Biedl Syndrome Overview |
LZTR1 | Noonan syndrome 10 Noonan syndrome 2 | Noonan Syndrome Schwannomatosis |
MAB21L2 | Microphthalmia/coloboma and skeletal dysplasia syndrome | |
MACF1 | Lissencephaly 9 with complex brainstem malformation | |
MAF | Ayme-Gripp syndrome Cataract 21, multiple types | Ayme-Gripp Syndrome |
MAFB | Duane retraction syndrome 3 Multicentric carpotarsal osteolysis syndrome | Duane Syndrome |
MAG | Spastic paraplegia 75, autosomal recessive | |
MAGEL2 | Schaaf-Yang syndrome | Prader-Willi Syndrome Schaaf-Yang Syndrome |
MAGI2 | Nephrotic syndrome, type 15 | |
MAGT1 | Congenital disorder of glycosylation, type Icc Immunodeficiency, X-linked | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MALT1 | Immunodeficiency 12 | |
MAMLD1 | Hypospadias 2, X-linked | |
MAN1B1 | Rafiq syndrome | |
MAN2B1 | Mannosidosis, alpha- | Alpha-Mannosidosis |
MANBA | Mannosidosis, beta | |
MAOA | Brunner syndrome | |
MAP1B | Periventricular nodular heterotopia 9 | |
MAP2K1 | Cardiofaciocutaneous syndrome 3 Melorheostosis, isolated | Noonan Syndrome Cardiofaciocutaneous Syndrome Noonan Syndrome with Multiple Lentigines |
MAP2K2 | Cardiofaciocutaneous syndrome 4 | Cardiofaciocutaneous Syndrome |
MAP3K1 | 46XY sex reversal 6 | Nonsyndromic Disorders of Testicular Development |
MAP3K7 | Cardiospondylocarpofacial syndrome Frontometaphyseal dysplasia 2 | |
MAPK8IP3 | Neurodevelopmental disorder with or without variable brain abnormalities | |
MAPRE2 | Symmetric circumferential skin creases, congenital | |
MARS1 | Charcot-Marie-Tooth disease, axonal Interstitial lung and liver disease | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
MARVELD2 | Deafness, autosomal recessive 49 | Hereditary Hearing Loss and Deafness Overview |
MASP1 | 3MC syndrome 1 | |
MAT1A | Hypermethioninemia, persistent Methionine adenosyltransferase deficiency, autosomal recessive | |
MATN3 | Epiphyseal dysplasia, multiple Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type | Multiple Epiphyseal Dysplasia, Dominant |
MAX | Hereditary Paraganglioma-Pheochromocytoma Syndromes | |
MBD5 | Mental retardation, autosomal dominant 1 | MBD5 Haploinsufficiency |
MBOAT7 | Intellectual developmental disorder, autosomal recessive 57 | |
MBTPS2 | IFAP syndrome with or without BRESHECK syndrome Keratosis follicularis spinulosa decalvans, X-linked Osteogenesis imperfecta, type XIX | |
MC2R | Glucocorticoid deficiency, due to ACTH unresponsiveness | |
MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | |
MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | |
MCEE | Methylmalonyl-CoA epimerase deficiency | Isolated Methylmalonic Acidemia |
MCFD2 | Factor V and factor VIII, combined deficiency of | |
MCOLN1 | Mucolipidosis IV | Mucolipidosis IV |
MCPH1 | Microcephaly 1, primary | |
MDH2 | Developmental and epileptic encephalopathy 51 | |
MECOM | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | |
MECP2 | Encephalopathy, neonatal severe Intellectual developmental disorder, X-linked syndromic Intellectual developmental disorder, X-linked Rett syndrome Rett syndrome, atypical Rett syndrome, preserved speech variant | MECP2 Duplication Syndrome MECP2 Disorders |
MECR | Dystonia, childhood-onset | MECR-Related Neurologic Disorder |
MED12 | Hardikar syndrome Lujan-Fryns syndrome Ohdo syndrome, X-linked Opitz-Kaveggia syndrome | MED12-Related Disorders |
MED13 | Intellectual developmental disorder 61 | |
MED13L | Impaired intellectual development and distinctive facial features with or without cardiac defects | |
MED17 | Microcephaly, postnatal progressive | |
MED23 | Intellectual developmental disorder, autosomal recessive 18 | |
MED25 | Basel-Vanagait-Smirin-Yosef syndrome | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
MEF2C | Chromosome 5q14.3 deletion syndrome Neurodevelopmental disorder with hypotonia, stereotypic hand movements | |
MEFV | Familial Mediterranean fever, AD Familial Mediterranean fever, AR Neutrophilic dermatosis, acute febrile | Familial Mediterranean Fever |
MEGF10 | Myopathy, areflexia Myopathy, areflexia | |
MEGF8 | Carpenter syndrome 2 | |
MEIS2 | Cleft palate, cardiac defects | |
MEN1 | Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1 Parathyroid adenoma, somatic (3) | Multiple Endocrine Neoplasia Type 1 |
MEOX1 | Klippel-Feil syndrome 2 | |
MESP2 | Spondylocostal dysostosis 2, autosomal recessive | Spondylocostal Dysostosis, Autosomal Recessive |
METTL5 | Intellectual developmental disorder, autosomal recessive 72 | |
MFN2 | Charcot-Marie-Tooth disease, axonal Charcot-Marie-Tooth disease, axonal Hereditary motor and sensory neuropathy VIA | MFN2 Hereditary Motor and Sensory Neuropathy |
MFRP | Microphthalmia, isolated 5 Nanophthalmos 2 | |
MFSD2A | Neurodevelopmental disorder with progressive microcephaly, spasticity | |
MFSD8 | Ceroid lipofuscinosis, neuronal Macular dystrophy with central cone involvement | |
MGAT2 | Congenital disorder of glycosylation, type IIa | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MGME1 | Mitochondrial DNA depletion syndrome 11 | |
MGP | Keutel syndrome | |
MICU1 | Myopathy with extrapyramidal signs | |
MID1 | Opitz GBBB syndrome, type I | X-Linked Opitz G/BBB Syndrome Esophageal Atresia/Tracheoesophageal Fistula Overview |
MIPEP | Combined oxidative phosphorylation deficiency 31 | |
MIR17HG | | |
MITF | COMMAD syndrome Tietz albinism-deafness syndrome Waardenburg syndrome, type 2A Waardenburg syndrome/ocular albinism, digenic | |
MKKS | Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome | Bardet-Biedl Syndrome Overview McKusick-Kaufman Syndrome |
MKS1 | Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome 1 | Joubert Syndrome Bardet-Biedl Syndrome Overview |
MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | Megalencephalic Leukoencephalopathy with Subcortical Cysts |
MLH1 | Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 1 Muir-Torre syndrome | Lynch Syndrome |
MLPH | Griscelli syndrome, type 3 | |
MLYCD | Malonyl-CoA decarboxylase deficiency | |
MMAA | Methylmalonic aciduria, vitamin B12-responsive | Isolated Methylmalonic Acidemia |
MMAB | Methylmalonic aciduria, vitamin B12-responsive | Isolated Methylmalonic Acidemia |
MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | Disorders of Intracellular Cobalamin Metabolism |
MMADHC | Homocystinuria, cblD type Methylmalonic aciduria and homocystinuria, cblD type Methylmalonic aciduria, cblD type | Isolated Methylmalonic Acidemia Disorders of Intracellular Cobalamin Metabolism |
MMP13 | Metaphyseal anadysplasia 1 Metaphyseal dysplasia, Spahr type | |
MMP21 | Heterotaxy, visceral | |
MMUT | Methylmalonic aciduria, mut(0) type | Isolated Methylmalonic Acidemia |
MN1 | CEBALID syndrome Meningioma | MN1 C-Terminal Truncation Syndrome |
MNX1 | Currarino syndrome | |
MOCS1 | Molybdenum cofactor deficiency A | Molybdenum Cofactor Deficiency |
MOCS2 | Molybdenum cofactor deficiency B | Molybdenum Cofactor Deficiency |
MOGS | Congenital disorder of glycosylation, type IIb | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MORC2 | Charcot-Marie-Tooth disease, axonal Developmental delay, impaired growth | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
MPDU1 | Congenital disorder of glycosylation, type If | |
MPDZ | Hydrocephalus, congenital | |
MPI | Congenital disorder of glycosylation, type Ib | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MPL | Myelofibrosis with myeloid metaplasia, somatic Thrombocythemia 2 Thrombocytopenia, congenital amegakaryocytic | |
MPLKIP | Trichothiodystrophy 4, nonphotosensitive | |
MPV17 | Charcot-Marie-Tooth disease, axonal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Charcot-Marie-Tooth Hereditary Neuropathy Overview MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect |
MPZ | Charcot-Marie-Tooth disease, dominant intermediate D Charcot-Marie-Tooth disease, type 1B Charcot-Marie-Tooth disease, type 2I Charcot-Marie-Tooth disease, type 2J Dejerine-Sottas disease Hypomyelinating neuropathy, congenital Roussy-Levy syndrome | |
MRPL3 | Combined oxidative phosphorylation deficiency 9 | |
MRPL44 | Combined oxidative phosphorylation deficiency 16 | |
MRPS2 | Combined oxidative phosphorylation deficiency 36 | |
MRPS22 | Combined oxidative phosphorylation deficiency 5 Ovarian dysgenesis 7 | |
MRPS34 | Combined oxidative phosphorylation deficiency 32 | |
MSH2 | Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 2 Muir-Torre syndrome | Lynch Syndrome |
MSH6 | Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 3 | Lynch Syndrome |
MSL3 | Basilicata-Akhtar syndrome | |
MSMO1 | Microcephaly, congenital cataract | |
MSX1 | Ectodermal dysplasia 3, Witkop type Orofacial cleft 5 Tooth agenesis, selective | |
MSX2 | Craniosynostosis 2 Parietal foramina 1 Parietal foramina with cleidocranial dysplasia | Enlarged Parietal Foramina |
MTFMT | Combined oxidative phosphorylation deficiency 15 Mitochondrial complex I deficiency, nuclear type 27 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
MTHFR | Homocystinuria due to MTHFR deficiency | |
MTM1 | Myotubular myopathy, X-linked | X-Linked Myotubular Myopathy |
MTO1 | Combined oxidative phosphorylation deficiency 10 | |
MTOR | Focal cortical dysplasia, type II Smith-Kingsmore syndrome | |
MTR | Homocystinuria-megaloblastic anemia, cblG complementation type | Disorders of Intracellular Cobalamin Metabolism |
MTRR | Homocystinuria-megaloblastic anemia, cbl E type | Disorders of Intracellular Cobalamin Metabolism |
MTTP | Abetalipoproteinemia | Abetalipoproteinemia |
MUSK | Fetal akinesia deformation sequence 1 Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
MUT | Methylmalonic aciduria, mut(0) type | |
MUTYH | Adenomas, multiple colorectal Gastric cancer, somatic | MUTYH Polyposis |
MVK | Hyper-IgD syndrome Mevalonic aciduria Porokeratosis 3, multiple types | |
MYBPC1 | Arthrogryposis, distal Lethal congenital contracture syndrome 4 Myopathy, congenital | |
MYBPC3 | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 10 | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
MYCN | Feingold syndrome 1 | Esophageal Atresia/Tracheoesophageal Fistula Overview Feingold Syndrome 1 |
MYD88 | Immunodeficiency 68 Macroglobulinemia, Waldenstrom | |
MYH11 | Aortic aneurysm, familial thoracic 4 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 Visceral myopathy 2 | Heritable Thoracic Aortic Disease Overview |
MYH14 | Deafness, autosomal dominant 4A | Hereditary Hearing Loss and Deafness Overview |
MYH2 | Proximal myopathy and ophthalmoplegia | |
MYH3 | Arthrogryposis, distal Arthrogryposis, distal Contractures, pterygia Contractures, pterygia | |
MYH6 | Atrial septal defect 3 Cardiomyopathy, dilated Cardiomyopathy, hypertrophic | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
MYH7 | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Laing distal myopathy Left ventricular noncompaction 5 Myopathy, myosin storage Myopathy, myosin storage Scapuloperoneal syndrome, myopathic type | Laing Distal Myopathy Hypertrophic Cardiomyopathy Overview |
MYH8 | Carney complex variant Trismus-pseudocamptodactyly syndrome | |
MYH9 | Deafness, autosomal dominant 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Hereditary Hearing Loss and Deafness Overview MYH9-Related Disease |
MYL2 | Cardiomyopathy, hypertrophic Myopathy, myofibrillar | Hypertrophic Cardiomyopathy Overview |
MYL3 | Cardiomyopathy, hypertrophic | Hypertrophic Cardiomyopathy Overview |
MYLK | Aortic aneurysm, familial thoracic 7 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Heritable Thoracic Aortic Disease Overview |
MYO15A | Deafness, autosomal recessive 3 | Hereditary Hearing Loss and Deafness Overview |
MYO18B | Klippel-Feil syndrome 4, autosomal recessive | |
MYO3A | Deafness, autosomal recessive 30 | Hereditary Hearing Loss and Deafness Overview |
MYO5A | Griscelli syndrome, type 1 | |
MYO5B | Diarrhea 2, with microvillus atrophy | |
MYO6 | Deafness, autosomal dominant 22 Deafness, autosomal dominant 22 Deafness, autosomal recessive 37 | Hereditary Hearing Loss and Deafness Overview |
MYO7A | Deafness, autosomal dominant 11 Deafness, autosomal recessive 2 Usher syndrome, type 1B | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
MYOD1 | Myopathy, congenital | |
MYPN | Cardiomyopathy, dilated Cardiomyopathy, familial restrictive Cardiomyopathy, hypertrophic Nemaline myopathy 11, autosomal recessive | |
MYT1L | Intellectual developmental disorder, autosomal dominant 39 | |
NAA10 | Microphthalmia, syndromic 1 Ogden syndrome | |
NAA15 | Intellectual developmental disorder, autosomal dominant 50 | |
NACC1 | Neurodevelopmental disorder with epilepsy, cataracts | |
NADSYN1 | Vertebral, cardiac | |
NAGA | Kanzaki disease Schindler disease, type I Schindler disease, type III | |
NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) | Charcot-Marie-Tooth Hereditary Neuropathy Overview Mucopolysaccharidosis Type III |
NAGS | N-acetylglutamate synthase deficiency | Urea Cycle Disorders Overview |
NALCN | Congenital contractures of the limbs and face, hypotonia Hypotonia, infantile | |
NANS | Spondyloepimetaphyseal dysplasia, Camera-Genevieve type | |
NARS1 | Neurodevelopmental disorder with microcephaly, impaired language Neurodevelopmental disorder with microcephaly, impaired language | |
NARS2 | Combined oxidative phosphorylation deficiency 24 | |
NAXD | Encephalopathy, progressive | |
NAXE | Encephalopathy, progressive | |
NBAS | Infantile liver failure syndrome 2 Short stature, optic nerve atrophy | |
NBEA | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
NBN | Aplastic anemia Leukemia, acute lymphoblastic Nijmegen breakage syndrome | Nijmegen Breakage Syndrome |
NCAPD3 | Microcephaly 22, primary | |
NCF1 | Chronic granulomatous disease 1, autosomal recessive | Williams Syndrome Chronic Granulomatous Disease |
NCF2 | Chronic granulomatous disease 2, autosomal recessive | Chronic Granulomatous Disease |
NCKAP1L | Immunodeficiency 72 with autoinflammation | |
NDE1 | Lissencephaly 4 (with microcephaly) | |
NDN | Prader-Willi syndrome | Prader-Willi Syndrome |
NDP | Exudative vitreoretinopathy 2, X-linked Norrie disease | |
NDST1 | Mental retardation, autosomal recessive 46 | |
NDUFA1 | Mitochondrial complex I deficiency, nuclear type 12 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFA10 | Mitochondrial complex I deficiency, nuclear type 22 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFA11 | Mitochondrial complex I deficiency, nuclear type 14 | |
NDUFA12 | Mitochondrial complex I deficiency, nuclear type 23 | |
NDUFA13 | | |
NDUFA2 | Mitochondrial complex I deficiency, nuclear type 13 | |
NDUFA6 | Mitochondrial complex I deficiency, nuclear type 33 | |
NDUFA9 | Mitochondrial complex I deficiency, nuclear type 26 | |
NDUFAF1 | Mitochondrial complex I deficiency, nuclear type 11 | |
NDUFAF2 | Mitochondrial complex I deficiency, nuclear type 10 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFAF3 | Mitochondrial complex I deficiency, nuclear type 18 | |
NDUFAF4 | Mitochondrial complex I deficiency, nuclear type 15 | |
NDUFAF5 | Mitochondrial complex I deficiency, nuclear type 16 | |
NDUFAF6 | Fanconi renotubular syndrome 5 Mitochondrial complex I deficiency, nuclear type 17 | |
NDUFAF8 | Mitochondrial complex I deficiency, nuclear type 34 | |
NDUFB3 | Mitochondrial complex I deficiency, nuclear type 25 | |
NDUFB8 | Mitochondrial complex I deficiency, nuclear type 32 | |
NDUFS1 | Mitochondrial complex I deficiency, nuclear type 5 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS2 | Mitochondrial complex I deficiency, nuclear type 6 | |
NDUFS3 | Mitochondrial complex I deficiency, nuclear type 8 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS4 | Mitochondrial complex I deficiency, nuclear type 1 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS6 | Mitochondrial complex I deficiency, nuclear type 9 | |
NDUFS7 | Mitochondrial complex I deficiency, nuclear type 3 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS8 | Mitochondrial complex I deficiency, nuclear type 2 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFV1 | Mitochondrial complex I deficiency, nuclear type 4 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFV2 | Mitochondrial complex I deficiency, nuclear type 7 | |
NEB | Arthrogryposis multiplex congenita 6 Nemaline myopathy 2, autosomal recessive | |
NECAP1 | Developmental and epileptic encephalopathy 21 | |
NECTIN1 | Cleft lip/palate-ectodermal dysplasia syndrome Orofacial cleft 7 | |
NECTIN4 | | |
NEDD4L | Periventricular nodular heterotopia 7 | |
NEFL | Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease, type 1F Charcot-Marie-Tooth disease, type 2E | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
NEK8 | Renal-hepatic-pancreatic dysplasia 2 | Nephronophthisis |
NEMF | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | |
NEU1 | Sialidosis, type I Sialidosis, type II | |
NEUROG3 | Diarrhea 4, malabsorptive | |
NEXMIF | Intellectual developmental disorder, X-linked 98 | |
NF1 | Leukemia, juvenile myelomonocytic Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Watson syndrome | Neurofibromatosis 1 Wilms Tumor Predisposition |
NF2 | Meningioma, NF2-related Neurofibromatosis, type 2 Schwannomatosis, somatic | Neurofibromatosis 2 |
NFASC | Neurodevelopmental disorder with central and peripheral motor dysfunction | |
NFIA | Brain malformations with or without urinary tract defects | NFIA-Related Disorder |
NFIB | Macrocephaly, acquired | |
NFIX | Malan syndrome Marshall-Smith syndrome | |
NFKBIA | Ectodermal dysplasia and immunodeficiency 2 | |
NFU1 | Multiple mitochondrial dysfunctions syndrome 1 | |
NGF | Neuropathy, hereditary sensory and autonomic | Congenital Insensitivity to Pain Overview |
NGLY1 | Congenital disorder of deglycosylation | NGLY1-Related Congenital Disorder of Deglycosylation |
NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation | |
NHLRC1 | Epilepsy, progressive myoclonic 2B (Lafora) | Progressive Myoclonus Epilepsy, Lafora Type |
NHP2 | Dyskeratosis congenita, autosomal recessive 2 | Dyskeratosis Congenita |
NHS | Cataract 40, X-linked Nance-Horan syndrome | |
NIPAL4 | Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
NIPBL | Cornelia de Lange syndrome 1 | Cornelia de Lange Syndrome |
NKX2-1 | Chorea, hereditary benign Choreoathetosis, hypothyroidism | NKX2-1-Related Disorders |
NKX2-5 | Atrial septal defect 7, with or without AV conduction defects Conotruncal heart malformations, variable Hypoplastic left heart syndrome 2 Hypothyroidism, congenital nongoitrous Tetralogy of Fallot Ventricular septal defect 3 | |
NKX2-6 | Conotruncal heart malformations Persistent truncus arteriosus | |
NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia | |
NKX6-2 | Spastic ataxia 8, autosomal recessive | NKX6-2-Related Disorder |
NLRC4 | Autoinflammation with infantile enterocolitis | |
NLRP3 | CINCA syndrome Deafness, autosomal dominant 34 Familial cold inflammatory syndrome 1 Keratoendothelitis fugax hereditaria Muckle-Wells syndrome | |
NMNAT1 | Leber congenital amaurosis 9 Spondyloepiphyseal dysplasia, sensorineural hearing loss | |
NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | |
NODAL | Heterotaxy, visceral | Holoprosencephaly Overview |
NOG | Brachydactyly, type B2 Multiple synostoses syndrome 1 Stapes ankylosis with broad thumbs and toes Symphalangism, proximal Tarsal-carpal coalition syndrome | |
NONO | Intellectual developmental disorder, X-linked syndromic 34 | |
NOTCH1 | Adams-Oliver syndrome 5 Aortic valve disease 1 | Adams-Oliver Syndrome |
NOTCH2 | Alagille syndrome 2 Hajdu-Cheney syndrome | Alagille Syndrome |
NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Lateral meningocele syndrome | CADASIL Lateral Meningocele Syndrome |
NOVA2 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | |
NPC1 | Niemann-Pick disease, type C1 Niemann-Pick disease, type D | Niemann-Pick Disease Type C |
NPC2 | Niemann-pick disease, type C2 | Niemann-Pick Disease Type C |
NPHP1 | Joubert syndrome 4 Nephronophthisis 1, juvenile Senior-Loken syndrome-1 | Joubert Syndrome Nephronophthisis |
NPHP3 | Meckel syndrome 7 Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1 | Nephronophthisis |
NPHP4 | Nephronophthisis 4 Senior-Loken syndrome 4 | Nephronophthisis |
NPHS1 | Nephrotic syndrome, type 1 | |
NPHS2 | Nephrotic syndrome, type 2 | |
NPR2 | Acromesomelic dysplasia 1, Maroteaux type Epiphyseal chondrodysplasia, Miura type Short stature with nonspecific skeletal abnormalities | |
NR0B1 | 46XY sex reversal 2, dosage-sensitive Adrenal hypoplasia, congenital | NR0B1-Related Adrenal Hypoplasia Congenita |
NR1H4 | Cholestasis, progressive familial intrahepatic | |
NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
NR2F2 | 46,XX sex reversal 5 Congenital heart defects, multiple types | |
NR3C2 | Hypertension, early-onset Pseudohypoaldosteronism type I, autosomal dominant | |
NR5A1 | 46, XX sex reversal 4 46XY sex reversal 3 Adrenocortical insufficiency Premature ovarian failure 7 Spermatogenic failure 8 | Nonsyndromic Disorders of Testicular Development |
NRXN1 | Pitt-Hopkins-like syndrome 2 | |
NSD1 | Sotos syndrome | Wilms Tumor Predisposition Sotos Syndrome |
NSDHL | CHILD syndrome CK syndrome | NSDHL-Related Disorders |
NSUN2 | Mental retardation, autosomal recessive 5 | |
NT5C2 | Spastic paraplegia 45, autosomal recessive | |
NT5C3A | Anemia, hemolytic | |
NTNG2 | Neurodevelopmental disorder with behavioral abnormalities, absent speech | |
NTRK1 | Insensitivity to pain, congenital | NTRK1 Congenital Insensitivity to Pain with Anhidrosis Congenital Insensitivity to Pain Overview |
NTRK2 | Developmental and epileptic encephalopathy 58 Obesity, hyperphagia | |
NUBPL | Mitochondrial complex I deficiency, nuclear type 21 | |
NUP107 | Galloway-Mowat syndrome 7 Nephrotic syndrome, type 11 | |
NUP188 | Sandestig-Stefanova syndrome | |
NYX | Night blindness, congenital stationary (complete) | X-Linked Congenital Stationary Night Blindness |
OBSL1 | 3-M syndrome 2 | Three M Syndrome |
OCA2 | Albinism, brown oculocutaneous Albinism, oculocutaneous | Prader-Willi Syndrome |
OCLN | Pseudo-TORCH syndrome 1 | |
OCRL | Dent disease 2 Lowe syndrome | Lowe Syndrome Dent Disease |
ODAPH | Amelogenesis imperfecta, type IIA4 | |
OFD1 | Joubert syndrome 10 Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome, type 2 | Oral-Facial-Digital Syndrome Type I Joubert Syndrome |
OGDH | | |
OPA1 | Behr syndrome Optic atrophy 1 Optic atrophy plus syndrome | Optic Atrophy Type 1 |
OPA3 | 3-methylglutaconic aciduria, type III Optic atrophy 3 with cataract | Costeff Syndrome |
OPHN1 | Intellectual developmental disorder, X-linked syndromic | |
ORC1 | Meier-Gorlin syndrome 1 | |
ORC4 | Meier-Gorlin syndrome 2 | |
ORC6 | Meier-Gorlin syndrome 3 | |
OSGEP | Galloway-Mowat syndrome 3 | |
OSMR | Amyloidosis, primary localized cutaneous | |
OSTM1 | Osteopetrosis, autosomal recessive 5 | |
OTC | Ornithine transcarbamylase deficiency | Urea Cycle Disorders Overview Ornithine Transcarbamylase Deficiency |
OTOA | Deafness, autosomal recessive 22 | Hereditary Hearing Loss and Deafness Overview |
OTOF | Auditory neuropathy, autosomal recessive Deafness, autosomal recessive 9 | OTOF-Related Deafness Hereditary Hearing Loss and Deafness Overview |
OTOGL | Deafness, autosomal recessive 84B | |
OTUD5 | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | |
OTUD6B | Intellectual developmental disorder with dysmorphic facies, seizures | |
OTULIN | Autoinflammation, panniculitis | |
OTX2 | Microphthalmia, syndromic 5 Pituitary hormone deficiency, combined Retinal dystrophy, early-onset | |
OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency | |
OXR1 | Cerebellar hypoplasia/atrophy, epilepsy | |
P3H1 | Osteogenesis imperfecta, type VIII | |
P4HB | Cole-Carpenter syndrome 1 | |
PACS1 | Schuurs-Hoeijmakers syndrome | PACS1 Neurodevelopmental Disorder |
PACS2 | Developmental and epileptic encephalopathy 66 | |
PAFAH1B1 | Lissencephaly 1 Subcortical laminar heterotopia | PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia |
PAH | Phenylketonuria | Phenylalanine Hydroxylase Deficiency |
PAK3 | Intellectual developmental disorder, X-linked 30 | |
PALB2 | Fanconi anemia, complementation group N | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
PAM16 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | |
PANK2 | HARP syndrome Neurodegeneration with brain iron accumulation 1 | Pantothenate Kinase-Associated Neurodegeneration |
PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | |
PARN | Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, telomere-related | Dyskeratosis Congenita |
PARS2 | Developmental and epileptic encephalopathy 75 | |
PAX2 | Glomerulosclerosis, focal segmental Papillorenal syndrome | PAX2-Related Disorder |
PAX3 | Craniofacial-deafness-hand syndrome Rhabdomyosarcoma 2, alveolar Waardenburg syndrome, type 1 Waardenburg syndrome, type 3 | Waardenburg Syndrome Type I |
PAX6 | Aniridia Anterior segment dysgenesis 5, multiple subtypes Cataract with late-onset corneal dystrophy Foveal hypoplasia 1 Keratitis Optic nerve hypoplasia | PAX6-Related Aniridia |
PAX8 | Hypothyroidism, congenital | |
PC | Pyruvate carboxylase deficiency Thrombophilia 3 due to protein C deficiency, autosomal dominant Thrombophilia 3 due to protein C deficiency, autosomal recessive | Pyruvate Carboxylase Deficiency |
PCARE | Retinitis pigmentosa 54 | Nonsyndromic Retinitis Pigmentosa Overview |
PCBD1 | Hyperphenylalaninemia, BH4-deficient | |
PCCA | Propionicacidemia | Propionic Acidemia |
PCCB | Propionicacidemia | Propionic Acidemia |
PCDH15 | Deafness, autosomal recessive 23 Usher syndrome, type 1D/F digenic Usher syndrome, type 1F | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
PCDH19 | Developmental and epileptic encephalopathy 9 | |
PCGF2 | Turnpenny-Fry syndrome | |
PCK1 | | |
PCNT | Microcephalic osteodysplastic primordial dwarfism, type II Nephrotic syndrome, type 17 | Microcephalic Osteodysplastic Primordial Dwarfism Type II |
PCSK9 | Hypercholesterolemia, familial | Familial Hypercholesterolemia |
PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy | |
PCYT2 | Spastic paraplegia 82, autosomal recessive | |
PDCD10 | Cerebral cavernous malformations-3 | Cerebral Cavernous Malformation, Famiilial |
PDE10A | Dyskinesia, limb and orofacial Striatal degeneration, autosomal dominant | |
PDE4D | Acrodysostosis 2, with or without hormone resistance | |
PDE6D | Joubert syndrome 22 | Joubert Syndrome |
PDE6G | Retinitis pigmentosa 57 | Nonsyndromic Retinitis Pigmentosa Overview |
PDGFRB | Basal ganglia calcification, idiopathic Kosaki overgrowth syndrome Myeloproliferative disorder with eosinophilia Myofibromatosis, infantile Premature aging syndrome, Penttinen type | Primary Familial Brain Calcification |
PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
PDHB | Pyruvate dehydrogenase E1-beta deficiency | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
PDHX | Lacticacidemia due to PDX1 deficiency | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
PDP1 | Pyruvate dehydrogenase phosphatase deficiency | |
PDSS2 | Coenzyme Q10 deficiency, primary | Primary Coenzyme Q10 Deficiency |
PDX1 | Lacticacidemia due to PDX1 deficiency MODY, type IV Pancreatic agenesis 1 | Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
PEPD | Prolidase deficiency | Prolidase Deficiency |
PERCC1 | Diarrhea 11, malabsorptive | |
PET100 | Mitochondrial complex IV deficiency, nuclear type 12 | |
PEX1 | Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B (NALD/IRD) | Zellweger Spectrum Disorder |
PEX10 | Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B | Zellweger Spectrum Disorder |
PEX11B | Peroxisome biogenesis disorder 14B | Zellweger Spectrum Disorder |
PEX12 | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3B | Zellweger Spectrum Disorder |
PEX13 | Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder 11B | Zellweger Spectrum Disorder |
PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) | Zellweger Spectrum Disorder |
PEX16 | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder 8B | Zellweger Spectrum Disorder |
PEX19 | Peroxisome biogenesis disorder 12A (Zellweger) | Zellweger Spectrum Disorder |
PEX2 | Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B | Zellweger Spectrum Disorder |
PEX26 | Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B | Zellweger Spectrum Disorder |
PEX3 | Peroxisome biogenesis disorder 10A (Zellweger) | Zellweger Spectrum Disorder |
PEX5 | Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B Rhizomelic chondrodysplasia punctata, type 5 | Zellweger Spectrum Disorder |
PEX6 | Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B | Zellweger Spectrum Disorder |
PEX7 | Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata, type 1 | Rhizomelic Chondrodysplasia Punctata Type 1 Adult Refsum Disease |
PFKM | Glycogen storage disease VII | |
PGAP1 | Neurodevelopmental disorder with dysmorphic features, spasticity | |
PGAP2 | Hyperphosphatasia with mental retardation syndrome 3 | |
PGAP3 | Hyperphosphatasia with mental retardation syndrome 4 | |
PGK1 | Phosphoglycerate kinase 1 deficiency | |
PGM1 | Congenital disorder of glycosylation, type It | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
PGM3 | Immunodeficiency 23 | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
PHACTR1 | Developmental and epileptic encephalopathy 70 | |
PHEX | Hypophosphatemic rickets, X-linked dominant | X-Linked Hypophosphatemia |
PHF21A | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | |
PHF6 | Borjeson-Forssman-Lehmann syndrome | |
PHF8 | Intellectual developmental disorder, X-linked | |
PHGDH | Neu-Laxova syndrome 1 Phosphoglycerate dehydrogenase deficiency | |
PHIP | Chung-Jansen syndrome | |
PHKA2 | Glycogen storage disease, type IXa1 Glycogen storage disease, type IXa2 | Phosphorylase Kinase Deficiency |
PHKB | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive | Phosphorylase Kinase Deficiency |
PHKG2 | Glycogen storage disease IXc | Phosphorylase Kinase Deficiency |
PHOX2B | Central hypoventilation syndrome, congenital Neuroblastoma with Hirschsprung disease | Congenital Central Hypoventilation Syndrome |
PHYH | Refsum disease | Adult Refsum Disease |
PIEZO1 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Lymphatic malformation 6 | |
PIEZO2 | Arthrogryposis, distal Arthrogryposis, distal Arthrogryposis, distal | |
PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 Paroxysmal nocturnal hemoglobinuria, somatic | |
PIGG | Intellectual developmental disorder, autosomal recessive 53 | |
PIGK | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | |
PIGL | CHIME syndrome | |
PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | Fryns Syndrome |
PIGO | Hyperphosphatasia with mental retardation syndrome 2 | |
PIGQ | Multiple congenital anomalies-hypotonia-seizures syndrome 4 | |
PIGS | Developmental and epileptic encephalopathy 95 | |
PIGT | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
PIGV | Hyperphosphatasia with mental retardation syndrome 1 | |
PIGY | Hyperphosphatasia with mental retardation syndrome 6 | |
PIK3CD | Immunodeficiency 14A, autosomal dominant Immunodeficiency 14B, autosomal recessive | |
PIK3R1 | Immunodeficiency 36 SHORT syndrome | SHORT Syndrome |
PIK3R2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | MPPH Syndrome |
PINK1 | Parkinson disease 6, early onset | Parkinson Disease Overview PINK1 Type of Young-Onset Parkinson Disease |
PISD | Liberfarb syndrome | |
PITX1 | Clubfoot, congenital Liebenberg syndrome | |
PITX2 | Anterior segment dysgenesis 4 Axenfeld-Rieger syndrome, type 1 Ring dermoid of cornea | |
PITX3 | Anterior segment dysgenesis 1, multiple subtypes Cataract 11, multiple types Cataract 11, syndromic | |
PKD1 | Polycystic kidney disease 1 | Polycystic Kidney Disease, Autosomal Dominant |
PKD1L1 | Heterotaxy, visceral | |
PKD2 | Polycystic kidney disease 2 | Polycystic Kidney Disease, Autosomal Dominant |
PKHD1 | Polycystic kidney disease 4, with or without hepatic disease | Polycystic Kidney Disease, Autosomal Recessive |
PKLR | Adenosine triphosphate, elevated Pyruvate kinase deficiency | |
PKP2 | Arrhythmogenic right ventricular dysplasia 9 | Arrhythmogenic Right Ventricular Cardiomyopathy Brugada Syndrome |
PLA2G6 | Infantile neuroaxonal dystrophy 1 Neurodegeneration with brain iron accumulation 2B Parkinson disease 14, autosomal recessive | PLA2G6-Associated Neurodegeneration Neurodegeneration with Brain Iron Accumulation Disorders Overview |
PLAA | Neurodevelopmental disorder with progressive microcephaly, spasticity | |
PLCB1 | Developmental and epileptic encephalopathy 12 | |
PLCB4 | Auriculocondylar syndrome 2 | |
PLCE1 | Nephrotic syndrome, type 3 | |
PLCG2 | Autoinflammation, antibody deficiency Familial cold autoinflammatory syndrome 3 | |
PLEC | Epidermolysis bullosa simplex 5A, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Muscular dystrophy, limb-girdle | Epidermolysis Bullosa with Pyloric Atresia |
PLEKHG5 | Charcot-Marie-Tooth disease, recessive intermediate C Spinal muscular atrophy, distal | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
PLG | Angioedema, hereditary Dysplasminogenemia Plasminogen deficiency, type I | |
PLK4 | Microcephaly and chorioretinopathy, autosomal recessive | |
PLN | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type | PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
PLOD2 | Bruck syndrome 2 | |
PLOD3 | Lysyl hydroxylase 3 deficiency | |
PLP1 | Pelizaeus-Merzbacher disease Spastic paraplegia 2, X-linked | PLP1 Disorders |
PLPBP | Epilepsy, early-onset | |
PLS3 | Bone mineral density QTL18, osteoporosis | |
PMM2 | Congenital disorder of glycosylation, type Ia | PMM2-CDG Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
PMP22 | Charcot-Marie-Tooth disease, type 1A Charcot-Marie-Tooth disease, type 1E Dejerine-Sottas disease Neuropathy, recurrent Roussy-Levy syndrome | Charcot-Marie-Tooth Hereditary Neuropathy Overview Hereditary Neuropathy with Liability to Pressure Palsies |
PMPCB | Multiple mitochondrial dysfunctions syndrome 6 | |
PMS2 | Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 4 | Lynch Syndrome |
PNKD | Paroxysmal nonkinesigenic dyskinesia 1 | Familial Paroxysmal Nonkinesigenic Dyskinesia |
PNKP | Ataxia-oculomotor apraxia 4 Microcephaly, seizures | |
PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency | |
PNPLA1 | Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
PNPLA8 | | |
PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | |
PNPT1 | Combined oxidative phosphorylation deficiency 13 Deafness, autosomal recessive 70 | |
POC1A | Short stature, onychodysplasia | |
POC1B | Cone-rod dystrophy 20 | Joubert Syndrome |
POGZ | White-Sutton syndrome | White-Sutton Syndrome |
POLA1 | Pigmentary disorder, reticulate Van Esch-O'Driscoll syndrome | |
POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Progressive external ophthalmoplegia, autosomal dominant 1 Progressive external ophthalmoplegia, autosomal recessive 1 | POLG-Related Disorders |
POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | |
POLH | Xeroderma pigmentosum, variant type | Xeroderma Pigmentosum |
POLR1A | Acrofacial dysostosis, Cincinnati type | |
POLR1B | Treacher-Collins syndrome 4 | Treacher Collins Syndrome |
POLR1C | Leukodystrophy, hypomyelinating Treacher Collins syndrome 3 | Treacher Collins Syndrome POLR3-Related Leukodystrophy |
POLR1D | Treacher Collins syndrome 2 | Treacher Collins Syndrome |
POLR3A | Leukodystrophy, hypomyelinating Wiedemann-Rautenstrauch syndrome | POLR3-Related Leukodystrophy |
POLR3B | Charcot-Marie-Tooth disease, demyelinating Leukodystrophy, hypomyelinating | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency POLR3-Related Leukodystrophy |
POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C Retinitis pigmentosa 76 | |
POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A Muscular dystrophy-dystroglycanopathy (limb-girdle) type C | |
POMK | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A | |
POMP | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Proteasome-associated autoinflammatory syndrome 2 | |
POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | |
POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C | |
POR | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Disordered steroidogenesis due to cytochrome P450 oxidoreductase | Cytochrome P450 Oxidoreductase Deficiency |
PORCN | Focal dermal hypoplasia | Focal Dermal Hypoplasia |
POU1F1 | Pituitary hormone deficiency, combined or isolated | |
POU3F4 | Deafness, X-linked 2 | Hereditary Hearing Loss and Deafness Overview |
POU4F3 | Deafness, autosomal dominant 15 | Hereditary Hearing Loss and Deafness Overview |
PPA2 | Sudden cardiac failure, infantile | |
PPIB | Osteogenesis imperfecta, type IX | |
PPP1CB | Noonan syndrome-like disorder with loose anagen hair 2 | |
PPP1R12A | Genitourinary and/or/brain malformation syndrome | PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome |
PPP1R15B | Microcephaly, short stature | |
PPP2CA | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | |
PPP2R1A | Mental retardation, autosomal dominant 36 | |
PPP2R5D | Mental retardation, autosomal dominant 35 | PPP2R5D-Related Neurodevelopmental Disorder |
PPP3CA | Arthrogryposis, cleft palate Developmental and epileptic encephalopathy 91 | |
PPT1 | Ceroid lipofuscinosis, neuronal | |
PQBP1 | Renpenning syndrome | |
PRDM12 | Neuropathy, hereditary sensory and autonomic | Congenital Insensitivity to Pain Overview |
PRDM16 | Cardiomyopathy, dilated Left ventricular noncompaction 8 | |
PREPL | Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
PRF1 | Aplastic anemia Hemophagocytic lymphohistiocytosis, familial Lymphoma, non-Hodgkin | Familial Hemophagocytic Lymphohistiocytosis |
PRICKLE1 | Epilepsy, progressive myoclonic 1B | PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia |
PRKAG2 | Cardiomyopathy, hypertrophic 6 Glycogen storage disease of heart, lethal congenital Wolff-Parkinson-White syndrome | Hypertrophic Cardiomyopathy Overview |
PRKAR1A | Acrodysostosis 1, with or without hormone resistance Adrenocortical tumor, somatic Carney complex, type 1 Myxoma, intracardiac Pigmented nodular adrenocortical disease, primary | Carney Complex |
PRKCD | Autoimmune lymphoproliferative syndrome, type III | |
PRKD1 | Congenital heart defects and ectodermal dysplasia | |
PRMT7 | Short stature, brachydactyly | |
PROC | Thrombophilia 3 due to protein C deficiency, autosomal dominant Thrombophilia 3 due to protein C deficiency, autosomal recessive | |
PRODH | Hyperprolinemia, type I | |
PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
PROP1 | Pituitary hormone deficiency, combined | PROP1-Related Combined Pituitary Hormone Deficiency |
PROS1 | Thrombophilia 5 due to protein S deficiency, autosomal dominant Thrombophilia 5 due to protein S deficiency, autosomal recessive | |
PRPS1 | Arts syndrome Charcot-Marie-Tooth disease, X-linked recessive Deafness, X-linked 1 Gout, PRPS-related Phosphoribosylpyrophosphate synthetase superactivity | Hereditary Hearing Loss and Deafness Overview Charcot-Marie-Tooth Neuropathy X Type 5 Phosphoribosylpyrophosphate Synthetase Superactivity Arts Syndrome DFNX1 Nonsyndromic Hearing Loss and Deafness |
PRRT2 | Convulsions, familial infantile Episodic kinesigenic dyskinesia 1 Seizures, benign familial infantile | PRRT2-Associated Paroxysmal Movement Disorders |
PRRX1 | Agnathia-otocephaly complex | |
PRSS12 | Mental retardation, autosomal recessive 1 | |
PRSS56 | Microphthalmia, isolated 6 | |
PRUNE1 | Neurodevelopmental disorder with microcephaly, hypotonia | |
PRX | Charcot-Marie-Tooth disease, type 4F Dejerine-Sottas disease | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
PSAP | Combined SAP deficiency Gaucher disease, atypical Krabbe disease, atypical Metachromatic leukodystrophy due to SAP-b deficiency | |
PSAT1 | Neu-Laxova syndrome 2 | |
PSMB8 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | |
PSMD12 | Stankiewicz-Isidor syndrome | |
PSPH | Phosphoserine phosphatase deficiency | |
PTCH1 | Basal cell carcinoma, somatic Basal cell nevus syndrome Holoprosencephaly 7 | Nevoid Basal Cell Carcinoma Syndrome Holoprosencephaly Overview |
PTCHD1 | | |
PTDSS1 | Lenz-Majewski hyperostotic dwarfism | |
PTEN | Cowden syndrome 1 Lhermitte-Duclos syndrome Macrocephaly/autism syndrome Prostate cancer, somatic | PTEN Hamartoma Tumor Syndrome |
PTF1A | Pancreatic agenesis 2 Pancreatic and cerebellar agenesis | |
PTH1R | Chondrodysplasia, Blomstrand type Eiken syndrome Failure of tooth eruption, primary Metaphyseal chondrodysplasia, Murk Jansen type | |
PTHLH | Brachydactyly, type E2 | |
PTPN11 | LEOPARD syndrome 1 Leukemia, juvenile myelomonocytic Metachondromatosis Noonan syndrome 1 | Noonan Syndrome Noonan Syndrome with Multiple Lentigines |
PTPN14 | Choanal atresia and lymphedema | |
PTPN23 | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | |
PTPRC | Severe combined immunodeficiency, T cell-negative | |
PTRF | Lipodystrophy, congenital generalized | |
PTRH2 | Infantile-onset multisystem neurologic, endocrine | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
PTS | Hyperphenylalaninemia, BH4-deficient | |
PUF60 | Verheij syndrome | |
PURA | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia | PURA-Related Neurodevelopmental Disorders |
PUS1 | Myopathy, lactic acidosis | |
PUS7 | Intellectual developmental disorder with abnormal behavior, microcephaly | |
PXDN | Anterior segment dysgenesis 7, with sclerocornea | |
PYCR1 | Cutis laxa, autosomal recessive Cutis laxa, autosomal recessive | |
PYCR2 | Leukodystrophy, hypomyelinating | |
PYGL | Glycogen storage disease VI | Glycogen Storage Disease Type VI |
PYGM | McArdle disease | Glycogen Storage Disease Type V |
PYROXD1 | Myopathy, myofibrillar | |
QARS1 | Microcephaly, progressive | |
QDPR | Hyperphenylalaninemia, BH4-deficient | |
QRICH1 | Ververi-Brady syndrome | |
RAB11B | Neurodevelopmental disorder with ataxic gait, absent speech | |
RAB18 | Warburg micro syndrome 3 | RAB18 Deficiency |
RAB23 | Carpenter syndrome | |
RAB27A | Griscelli syndrome, type 2 | |
RAB39B | Intellectual developmental disorder, X-linked 72 Waisman syndrome | Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated |
RAB3GAP1 | Martsolf syndrome 2 Warburg micro syndrome 1 | RAB18 Deficiency |
RAB3GAP2 | Martsolf syndrome 1 Warburg micro syndrome 2 | RAB18 Deficiency |
RAB7A | Charcot-Marie-Tooth Hereditary Neuropathy Overview | |
RAC1 | Mental retardation, autosomal dominant 48 | |
RAC2 | Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | |
RAD21 | Cornelia de Lange syndrome 4 | Cornelia de Lange Syndrome Trichorhinophalangeal Syndrome |
RAD50 | Nijmegen breakage syndrome-like disorder | |
RAF1 | Cardiomyopathy, dilated LEOPARD syndrome 2 Noonan syndrome 5 | Noonan Syndrome Noonan Syndrome with Multiple Lentigines |
RAG1 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection Combined cellular and humoral immune defects with granulomas Omenn syndrome Severe combined immunodeficiency, B cell-negative | |
RAG2 | Combined cellular and humoral immune defects with granulomas Omenn syndrome Severe combined immunodeficiency, B cell-negative | |
RAI1 | Smith-Magenis syndrome | Smith-Magenis Syndrome Potocki-Lupski Syndrome |
RALGAPA1 | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency | |
RAPSN | Fetal akinesia deformation sequence 2 Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
RARB | Microphthalmia, syndromic 12 | |
RARS1 | Leukodystrophy, hypomyelinating | |
RARS2 | Pontocerebellar hypoplasia, type 6 | |
RASA1 | Basal cell carcinoma, somatic Capillary malformation-arteriovenous malformation 1 | Capillary Malformation-Arteriovenous Malformation Syndrome |
RAX | Dystonia 16 Microphthalmia, isolated 3 | |
RB1 | Bladder cancer, somatic Osteosarcoma, somatic Retinoblastoma Retinoblastoma, trilateral Small cell cancer of the lung, somatic | Retinoblastoma |
RBBP8 | Jawad syndrome Pancreatic carcinoma, somatic (3) Seckel syndrome 2 | |
RBCK1 | Polyglucosan body myopathy 1 with or without immunodeficiency | |
RBM10 | TARP syndrome | |
RBM20 | Cardiomyopathy, dilated | Dilated Cardiomyopathy Overview |
RBM8A | Thrombocytopenia-absent radius syndrome | Thrombocytopenia Absent Radius Syndrome |
RBPJ | Adams-Oliver syndrome 3 | Adams-Oliver Syndrome |
RDH11 | | |
RECQL4 | Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome, type 2 | Baller-Gerold Syndrome Rothmund-Thomson Syndrome |
RELN | Lissencephaly 2 (Norman-Roberts type) | Autosomal Dominant Epilepsy with Auditory Features |
REN | Renal tubular dysgenesis Tubulointerstitial kidney disease, autosomal dominant | Autosomal Dominant Tubulointerstitial Kidney Disease -- REN |
RERE | Neurodevelopmental disorder with or without anomalies of the brain, eye | RERE-Related Disorders |
RET | Medullary thyroid carcinoma Multiple endocrine neoplasia IIA Multiple endocrine neoplasia IIB Pheochromocytoma | Multiple Endocrine Neoplasia Type 2 |
RETREG1 | Neuropathy, hereditary sensory and autonomic | Hereditary Sensory and Autonomic Neuropathy Type II |
RFT1 | Congenital disorder of glycosylation, type In | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
RFX5 | Bare lymphocyte syndrome, type II Bare lymphocyte syndrome, type II | |
RFX6 | Mitchell-Riley syndrome | |
RHOBTB2 | Developmental and epileptic encephalopathy 64 | |
RIC1 | CATIFA syndrome | |
RIMS2 | Cone-rod synaptic disorder syndrome, congenital nonprogressive | |
RIN2 | Macrocephaly, alopecia | |
RIPK4 | CHAND syndrome Popliteal pterygium syndrome, Bartsocas-Papas type 1 | |
RIT1 | Noonan syndrome 8 | Noonan Syndrome |
RLIM | Tonne-Kalscheuer syndrome | |
RMND1 | Combined oxidative phosphorylation deficiency 11 | |
RMRP | Anauxetic dysplasia 1 Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis | Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders |
RNASEH2A | Aicardi-Goutieres syndrome 4 | Aicardi-Goutieres Syndrome |
RNASEH2B | Aicardi-Goutieres syndrome 2 | Aicardi-Goutieres Syndrome |
RNASEH2C | Aicardi-Goutieres syndrome 3 | Aicardi-Goutieres Syndrome |
RNASET2 | Leukoencephalopathy, cystic | |
RNF113A | Trichothiodystrophy 5, nonphotosensitive | |
RNF13 | Developmental and epileptic encephalopathy 73 | |
RNF135 | | |
RNF168 | RIDDLE syndrome | |
ROBO3 | Gaze palsy, familial horizontal | |
ROGDI | Kohlschutter-Tonz syndrome | |
ROR2 | Brachydactyly, type B1 Robinow syndrome, autosomal recessive | ROR2-Related Robinow Syndrome |
RORA | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
RPE65 | Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement | Nonsyndromic Retinitis Pigmentosa Overview RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy |
RPGR | Cone-rod dystrophy, X-linked Macular degeneration, X-linked atrophic Retinitis pigmentosa 3 Retinitis pigmentosa, X-linked | Nonsyndromic Retinitis Pigmentosa Overview |
RPGRIP1 | Cone-rod dystrophy 13 Leber congenital amaurosis 6 | |
RPGRIP1L | Joubert syndrome 7 Meckel syndrome 5 | Joubert Syndrome Nephronophthisis |
RPIA | Ribose 5-phosphate isomerase deficiency | |
RPL10 | Intellectual developmental disorder, X-linked | |
RPL11 | Diamond-Blackfan anemia 7 | Diamond-Blackfan Anemia |
RPL13 | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | |
RPL26 | Diamond-Blackfan Anemia | |
RPL5 | Diamond-Blackfan anemia 6 | Diamond-Blackfan Anemia |
RPS15 | | |
RPS17 | Diamond-Blackfan anemia 4 | Diamond-Blackfan Anemia |
RPS19 | Diamond-Blackfan anemia 1 | Diamond-Blackfan Anemia |
RPS24 | Diamond-blackfan anemia 3 | Diamond-Blackfan Anemia |
RPS26 | Diamond-Blackfan anemia 10 | Diamond-Blackfan Anemia |
RPS28 | Diamond Blackfan anemia 15 with mandibulofacial dysostosis | Diamond-Blackfan Anemia |
RPS29 | Diamond-Blackfan anemia 13 | Diamond-Blackfan Anemia |
RPS6KA3 | Coffin-Lowry syndrome Intellectual developmental disorder, X-linked 19 | Coffin-Lowry Syndrome |
RPS7 | Diamond-Blackfan anemia 8 | Diamond-Blackfan Anemia |
RRM2B | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Mitochondrial DNA depletion syndrome 8B (MNGIE type) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | RRM2B Mitochondrial DNA Maintenance Defects |
RS1 | Retinoschisis | X-Linked Congenital Retinoschisis |
RSPH1 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
RSPH3 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
RSPH4A | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
RSPH9 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
RSPO2 | Tetraamelia syndrome 2 | |
RSPO4 | Anonychia congenita | |
RSPRY1 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | |
RTEL1 | Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, telomere-related | Dyskeratosis Congenita |
RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation | |
RTTN | Microcephaly, short stature | |
RUNX2 | Cleidocranial dysplasia Cleidocranial dysplasia, forme fruste Cleidocranial dysplasia, forme fruste Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Cleidocranial Dysplasia Spectrum Disorder |
RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A | |
RYR1 | Central core disease King-Denborough syndrome Minicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital | Malignant Hyperthermia Susceptibility |
RYR2 | Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Ventricular tachycardia, catecholaminergic polymorphic | Arrhythmogenic Right Ventricular Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia |
SACS | Spastic ataxia, Charlevoix-Saguenay type | ARSACS |
SALL1 | Townes-Brocks branchiootorenal-like syndrome Townes-Brocks syndrome 1 | Townes-Brocks Syndrome |
SALL4 | Duane-radial ray syndrome | Duane Syndrome SALL4-Related Disorders |
SAMD9 | MIRAGE syndrome Monosomy 7 myelodysplasia and leukemia syndrome 2 Tumoral calcinosis, familial | MIRAGE Syndrome |
SAMD9L | Ataxia-pancytopenia syndrome Monosomy 7 myelodysplasia and leukemia syndrome 1 | SAMD9L Ataxia-Pancytopenia Syndrome |
SAMHD1 | Aicardi-Goutieres syndrome 5 | Aicardi-Goutieres Syndrome |
SARS2 | Hyperuricemia, pulmonary hypertension | |
SASS6 | Microcephaly 14, primary | |
SATB2 | Glass syndrome | SATB2-Associated Syndrome |
SBDS | Shwachman-Diamond syndrome | Shwachman-Diamond Syndrome Pancreatitis Overview |
SBF1 | Charcot-Marie-Tooth disease, type 4B3 | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
SC5D | Lathosterolosis | |
SCAPER | Intellectual developmental disorder and retinitis pigmentosa | |
SCARF2 | Van den Ende-Gupta syndrome | |
SCN11A | Episodic pain syndrome, familial Neuropathy, hereditary sensory and autonomic | Congenital Insensitivity to Pain Overview |
SCN1A | Developmental and epileptic encephalopathy 6B, non-Dravet Dravet syndrome Febrile seizures, familial Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic | SCN1A-Related Seizure Disorders Familial Hemiplegic Migraine |
SCN1B | Atrial fibrillation, familial Brugada syndrome 5 Cardiac conduction defect, nonspecific Developmental and epileptic encephalopathy 52 Generalized epilepsy with febrile seizures plus, type 1 | Brugada Syndrome |
SCN2A | Developmental and epileptic encephalopathy 11 Episodic ataxia, type 9 Seizures, benign familial infantile | |
SCN3A | Developmental and epileptic encephalopathy 62 Epilepsy, familial focal | SCN3A-Related Neurodevelopmental Disorder |
SCN4A | Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Myasthenic syndrome, congenital Myotonia congenita, atypical Paramyotonia congenita | Congenital Myasthenic Syndromes Overview Hypokalemic Periodic Paralysis Hyperkalemic Periodic Paralysis |
SCN5A | Atrial fibrillation, familial Brugada syndrome 1 Cardiomyopathy, dilated Heart block, nonprogressive Heart block, progressive Long QT syndrome 3 Sick sinus syndrome 1 Ventricular fibrillation, familial | Long QT Syndrome Brugada Syndrome |
SCN8A | Cognitive impairment with or without cerebellar ataxia Developmental and epileptic encephalopathy 13 Seizures, benign familial infantile | SCN8A-Related Epilepsy with Encephalopathy |
SCN9A | Erythermalgia, primary Insensitivity to pain, congenital Neuropathy, hereditary sensory and autonomic Paroxysmal extreme pain disorder Small fiber neuropathy | SCN9A Neuropathic Pain Syndromes Hereditary Sensory and Autonomic Neuropathy Type II Congenital Insensitivity to Pain Overview |
SCNN1A | Bronchiectasis with or without elevated sweat chloride 2 Pseudohypoaldosteronism, type I | |
SCNN1B | Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Pseudohypoaldosteronism, type I | |
SCO1 | Mitochondrial complex IV deficiency, nuclear type 4 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SCO2 | Mitochondrial complex IV deficiency, nuclear type 2 Myopia 6 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SCYL1 | Spinocerebellar ataxia, autosomal recessive 21 | |
SCYL2 | Arthrogryposis multiplex congenita 4, neurogenic | |
SDCCAG8 | Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 | Bardet-Biedl Syndrome Overview Nephronophthisis |
SDHA | Cardiomyopathy, dilated Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Paragangliomas 5 | Hereditary Paraganglioma-Pheochromocytoma Syndromes Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SDHAF1 | Mitochondrial complex II deficiency, nuclear type 2 | |
SDHAF2 | Paragangliomas 2 | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
SDHB | Gastrointestinal stromal tumor Mitochondrial complex II deficiency, nuclear type 4 Paraganglioma and gastric stromal sarcoma Paragangliomas 4 Pheochromocytoma | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
SDHC | Gastrointestinal stromal tumor Paraganglioma and gastric stromal sarcoma Paragangliomas 3 | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
SDHD | Mitochondrial complex II deficiency, nuclear type 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1, with or without deafness Pheochromocytoma | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
SEC23B | Dyserythropoietic anemia, congenital | |
SEC24D | Cole-Carpenter syndrome 2 | |
SELENOI | Spastic paraplegia 81, autosomal recessive | |
SELENON | Muscular dystrophy, rigid spine Myopathy, congenital | |
SEPN1 | Muscular dystrophy, rigid spine Myopathy, congenital | |
SEPSECS | Pontocerebellar hypoplasia type 2D | |
44813 | Amyotrophy, hereditary neuralgic | |
SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy | SERAC1 Deficiency |
SERPINF1 | Osteogenesis imperfecta, type VI | |
SERPINH1 | Osteogenesis imperfecta, type X | |
SET | Mental retardation, autosomal dominant 58 | |
SETBP1 | Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome | SETBP1 Haploinsufficiency Disorder |
SETD1A | Epilepsy, early-onset Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
SETD2 | Luscan-Lumish syndrome | SETD2 Neurodevelopmental Disorders |
SETD5 | Mental retardation, autosomal dominant 23 | |
SETX | Amyotrophic lateral sclerosis 4, juvenile Spinocerebellar ataxia, autosomal recessive | Ataxia with Oculomotor Apraxia Type 2 Charcot-Marie-Tooth Hereditary Neuropathy Overview |
SF3B4 | Acrofacial dysostosis 1, Nager type | |
SFTPB | Surfactant metabolism dysfunction, pulmonary | |
SFTPC | Surfactant metabolism dysfunction, pulmonary | Pulmonary Fibrosis Predisposition Overview |
SFXN4 | Combined oxidative phosphorylation deficiency 18 | |
SGCA | Muscular dystrophy, limb-girdle | |
SGCB | Muscular dystrophy, limb-girdle | |
SGCD | Cardiomyopathy, dilated Muscular dystrophy, limb-girdle | Dilated Cardiomyopathy Overview |
SGCE | Dystonia-11, myoclonic | SGCE Myoclonus-Dystonia |
SGCG | Muscular dystrophy, limb-girdle | |
SGPL1 | Nephrotic syndrome, type 14 | Charcot-Marie-Tooth Hereditary Neuropathy Overview Sphingosine Phosphate Lyase Insufficiency Syndrome |
SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo A) | Mucopolysaccharidosis Type III |
SH2D1A | Lymphoproliferative syndrome, X-linked | Lymphoproliferative Disease, X-Linked |
SH3PXD2B | Frank-ter Haar syndrome | |
SH3TC2 | Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild | SH3TC2-Related Hereditary Motor and Sensory Neuropathy |
SHANK2 | | |
SHANK3 | Phelan-McDermid syndrome | Phelan-McDermid Syndrome |
SHH | Holoprosencephaly 3 Microphthalmia with coloboma 5 Schizencephaly Single median maxillary central incisor | Holoprosencephaly Overview |
SHOC2 | Noonan syndrome-like with loose anagen hair 1 | |
SHOX | Langer mesomelic dysplasia Leri-Weill dyschondrosteosis Short stature, idiopathic familial | SHOX Deficiency Disorders |
SIK1 | Developmental and epileptic encephalopathy 30 | |
SIL1 | Marinesco-Sjogren syndrome | Marinesco-Sjogren Syndrome |
SIM1 | | |
SIN3A | Witteveen-Kolk syndrome | |
SIX1 | Branchiootic syndrome 3 Deafness, autosomal dominant 23 | Branchiootorenal Spectrum Disorder Hereditary Hearing Loss and Deafness Overview |
SIX3 | Holoprosencephaly 2 Schizencephaly | Holoprosencephaly Overview |
SIX5 | Branchiootorenal syndrome 2 | Branchiootorenal Spectrum Disorder |
SKI | Shprintzen-Goldberg syndrome | Shprintzen-Goldberg Syndrome |
SKIV2L | Trichohepatoenteric syndrome 2 | Trichohepatoenteric Syndrome |
SLC10A7 | Short stature, amelogenesis imperfecta | |
SLC12A1 | Bartter syndrome, type 1 | |
SLC12A3 | Gitelman syndrome | |
SLC12A5 | Developmental and epileptic encephalopathy 34 | SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures |
SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
SLC13A5 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | |
SLC16A1 | Erythrocyte lactate transporter defect Hyperinsulinemic hypoglycemia, familial Monocarboxylate transporter 1 deficiency | |
SLC16A2 | Allan-Herndon-Dudley syndrome | Allan-Herndon-Dudley Syndrome |
SLC17A5 | Salla disease Sialic acid storage disorder, infantile | Free Sialic Acid Storage Disorders |
SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | Thiamine-Responsive Megaloblastic Anemia Syndrome |
SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | Biotin-Thiamine-Responsive Basal Ganglia Disease |
SLC1A2 | Developmental and epileptic encephalopathy 41 | |
SLC22A5 | Carnitine deficiency, systemic primary | Systemic Primary Carnitine Deficiency |
SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria Myasthenic syndrome, congenital | Congenital Myasthenic Syndromes Overview |
SLC25A12 | Developmental and epileptic encephalopathy 39 | |
SLC25A13 | Citrullinemia, adult-onset type II Citrullinemia, type II | Citrin Deficiency |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
SLC25A19 | Microcephaly, Amish type Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | Amish Lethal Microcephaly |
SLC25A20 | Carnitine-acylcarnitine translocase deficiency | |
SLC25A22 | Developmental and epileptic encephalopathy 3 | |
SLC25A24 | Fontaine progeroid syndrome | |
SLC25A26 | Combined oxidative phosphorylation deficiency 28 | |
SLC25A3 | Mitochondrial phosphate carrier deficiency | |
SLC25A38 | Anemia, sideroblastic | |
SLC25A4 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | |
SLC25A42 | Metabolic crises, recurrent | |
SLC26A2 | Achondrogenesis Ib Atelosteogenesis, type II De la Chapelle dysplasia Diastrophic dysplasia Diastrophic dysplasia, broad bone-platyspondylic variant Epiphyseal dysplasia, multiple | Multiple Epiphyseal Dysplasia, Recessive Atelosteogenesis Type 2 Diastrophic Dysplasia Achondrogenesis Type 1B |
SLC26A3 | Diarrhea 1, secretory chloride | |
SLC26A4 | Deafness, autosomal recessive 4 Pendred syndrome | Hereditary Hearing Loss and Deafness Overview Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct |
SLC27A4 | Ichthyosis prematurity syndrome | Autosomal Recessive Congenital Ichthyosis |
SLC2A1 | Dystonia 9 GLUT1 deficiency syndrome 1, infantile onset GLUT1 deficiency syndrome 2, childhood onset Stomatin-deficient cryohydrocytosis with neurologic defects | Glucose Transporter Type 1 Deficiency Syndrome |
SLC2A10 | Arterial tortuosity syndrome | Arterial Tortuosity Syndrome |
SLC2A2 | Fanconi-Bickel syndrome | |
SLC30A10 | Hypermanganesemia with dystonia 1 | Hypermanganesemia with Dystonia 1 |
SLC33A1 | Congenital cataracts, hearing loss Spastic paraplegia 42, autosomal dominant | Huppke-Brendel Syndrome |
SLC34A2 | Pulmonary alveolar microlithiasis | |
SLC34A3 | Hypophosphatemic rickets with hypercalciuria | |
SLC35A1 | Congenital disorder of glycosylation, type IIf | |
SLC35A2 | Congenital disorder of glycosylation, type IIm | |
SLC35A3 | Arthrogryposis, impaired intellectual development | |
SLC35C1 | Congenital disorder of glycosylation, type IIc | |
SLC35D1 | Schneckenbecken dysplasia | |
SLC37A4 | Congenital disorder of glycosylation, type IIw Glycogen storage disease Ib Glycogen storage disease Ic | Glycogen Storage Disease Type I |
SLC39A13 | Ehlers-Danlos syndrome, spondylodysplastic type | |
SLC39A4 | Acrodermatitis enteropathica | |
SLC39A8 | Congenital disorder of glycosylation, type IIn | |
SLC3A1 | Cystinuria | |
SLC45A2 | Albinism, oculocutaneous | Oculocutaneous Albinism Type 4 |
SLC46A1 | Folate malabsorption, hereditary | Hereditary Folate Malabsorption |
SLC4A1 | Cryohydrocytosis Distal renal tubular acidosis 1 Distal renal tubular acidosis 4 with hemolytic anemia Ovalocytosis, SA type Spherocytosis, type 4 | Hereditary Distal Renal Tubular Acidosis |
SLC4A11 | Corneal dystrophy, Fuchs endothelial Corneal endothelial dystrophy and perceptive deafness Corneal endothelial dystrophy, autosomal recessive | |
SLC4A4 | Renal tubular acidosis, proximal | |
SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 | Riboflavin Transporter Deficiency |
SLC52A3 | Brown-Vialetto-Van Laere syndrome 1 | Riboflavin Transporter Deficiency |
SLC5A1 | Glucose/galactose malabsorption | |
SLC5A2 | Renal glucosuria | |
SLC5A5 | Thyroid dyshormonogenesis 1 | |
SLC5A6 | Neurodegeneration, infantile-onset | |
SLC5A7 | Myasthenic syndrome, congenital Neuronopathy, distal hereditary motor | Congenital Myasthenic Syndromes Overview |
SLC6A1 | Myoclonic-atonic epilepsy | |
SLC6A3 | Parkinsonism-dystonia, infantile | SLC6A3-Related Dopamine Transported Deficiency Syndrome |
SLC6A5 | Hyperekplexia 3 | Hereditary Hyperekplexia Overview |
SLC6A8 | Cerebral creatine deficiency syndrome 1 | Creatine Deficiency Disorders |
SLC6A9 | Glycine encephalopathy with normal serum glycine | GLYT1 Encephalopathy |
SLC7A7 | Lysinuric protein intolerance | Lysinuric Protein Intolerance |
SLC7A9 | Cystinuria | |
SLC9A1 | Lichtenstein-Knorr syndrome | |
SLC9A6 | Intellectual developmental disorder, X-linked syndromic | Christianson Syndrome |
SLCO2A1 | Hypertrophic osteoarthropathy, primary Hypertrophic osteoarthropathy, primary | |
SLX4 | Fanconi anemia, complementation group P | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
SMAD3 | Loeys-Dietz syndrome 3 | Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome |
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Pancreatic cancer, somatic Polyposis, juvenile intestinal | Hereditary Hemorrhagic Telangiectasia Juvenile Polyposis Syndrome Myhre Syndrome |
SMARCA2 | Blepharophimosis-impaired intellectual development syndrome Nicolaides-Baraitser syndrome | Nicolaides-Baraitser Syndrome |
SMARCA4 | Coffin-Siris syndrome 4 | Coffin-Siris Syndrome Rhabdoid Tumor Predisposition Syndrome |
SMARCAL1 | Schimke immunoosseous dysplasia | Schimke Immunoosseous Dysplasia |
SMARCB1 | Coffin-Siris syndrome 3 Rhabdoid tumors, somatic | Coffin-Siris Syndrome Rhabdoid Tumor Predisposition Syndrome Schwannomatosis |
SMARCC2 | Coffin-Siris syndrome 8 | Coffin-Siris Syndrome |
SMARCD1 | Coffin-Siris syndrome 11 | |
SMARCE1 | Coffin-Siris syndrome 5 | Coffin-Siris Syndrome |
SMC1A | Cornelia de Lange syndrome 2 Developmental and epileptic encephalopathy 85, with or without midline brain defects | Cornelia de Lange Syndrome |
SMC3 | Cornelia de Lange syndrome 3 | Cornelia de Lange Syndrome |
SMCHD1 | Bosma arhinia microphthalmia syndrome Fascioscapulohumeral muscular dystrophy 2, digenic | Facioscapulohumeral Muscular Dystrophy |
SMN1 | Spinal muscular atrophy-1 Spinal muscular atrophy-2 Spinal muscular atrophy-3 Spinal muscular atrophy-4 | Spinal Muscular Atrophy |
SMOC1 | Microphthalmia with limb anomalies | |
SMPD1 | Niemann-Pick disease, type A Niemann-Pick disease, type B | Acid Sphingomyelinase Deficiency |
SMPD4 | Neurodevelopmental disorder with microcephaly, arthrogryposis | |
SMPX | Deafness, X-linked 4 | Hereditary Hearing Loss and Deafness Overview |
SMS | Intellectual developmental disorder, X-linked syndromic Smith-Magenis syndrome | Snyder-Robinson Syndrome |
SNAP29 | Cerebral dysgenesis, neuropathy | |
SNORD118 | Leukoencephalopathy, brain calcifications | |
SNRPB | Cerebrocostomandibular syndrome | |
SNTA1 | Long QT syndrome 12 | Long QT Syndrome |
SNX14 | Spinocerebellar ataxia, autosomal recessive 20 | |
SON | ZTTK syndrome | |
SOS1 | Noonan syndrome 4 | Noonan Syndrome |
SOS2 | Noonan syndrome 9 | Noonan Syndrome |
SOX10 | PCWH syndrome Waardenburg syndrome, type 2E Waardenburg syndrome, type 4C | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
SOX11 | Coffin-Siris syndrome 9 | Coffin-Siris Syndrome |
SOX17 | Vesicoureteral reflux 3 | |
SOX2 | Microphthalmia, syndromic 3 Optic nerve hypoplasia and abnormalities of the central nervous system | SOX2 Disorder Esophageal Atresia/Tracheoesophageal Fistula Overview |
SOX3 | Intellectual developmental disorder, X-linked Panhypopituitarism, X-linked | |
SOX5 | Lamb-Shaffer syndrome | |
SOX6 | Tolchin-Le Caignec syndrome | |
SOX9 | Acampomelic campomelic dysplasia Campomelic dysplasia with autosomal sex reversal Campomelic dysplasia | Campomelic Dysplasia |
SP110 | Hepatic venoocclusive disease with immunodeficiency | Hepatic Veno-Occlusive Disease with Immunodeficiency |
SP7 | Osteogenesis imperfecta, type XII | |
SPAG1 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
SPART | Troyer syndrome | Troyer Syndrome |
SPAST | Spastic paraplegia 4, autosomal dominant | Spastic Paraplegia 4 |
SPATA5 | Neurodevelopmental disorder with hearing loss, seizures | |
SPECC1L | Opitz GBBB syndrome, type II Teebi hypertelorism syndrome 1 | |
SPEG | Centronuclear myopathy 5 | |
SPINK5 | Netherton syndrome | |
SPR | Dystonia, dopa-responsive | Sepiapterin Reductase Deficiency |
SPRED1 | Legius syndrome | Legius Syndrome |
SPTA1 | Elliptocytosis-2 Pyropoikilocytosis Spherocytosis, type 3 | |
SPTAN1 | Developmental and epileptic encephalopathy 5 | |
SPTB | Anemia, neonatal hemolytic Elliptocytosis-3 Spherocytosis, type 2 | |
SPTBN2 | Spinocerebellar ataxia 5 Spinocerebellar ataxia, autosomal recessive 14 | |
SPTBN4 | Neurodevelopmental disorder with hypotonia, neuropathy | SPTBN4 Disorder |
SPTLC1 | Neuropathy, hereditary sensory and autonomic | Charcot-Marie-Tooth Hereditary Neuropathy Overview SPTLC1-Related Hereditary Sensory Neuropathy |
SPTLC2 | Neuropathy, hereditary sensory and autonomic | |
SRCAP | Developmental delay, hypotonia Floating-Harbor syndrome | Floating-Harbor Syndrome |
SRD5A3 | Congenital disorder of glycosylation, type Iq Kahrizi syndrome | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
SRP54 | Neutropenia, severe congenital | Shwachman-Diamond Syndrome |
SRY | 46XX sex reversal 1 46XY sex reversal 1 | Nonsyndromic 46,XX Testicular Disorders of Sex Development Nonsyndromic Disorders of Testicular Development |
SSR4 | Congenital disorder of glycosylation, type Iy | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ST14 | Ichthyosis, congenital | |
ST3GAL3 | Developmental and epileptic encephalopathy 15 Intellectual developmental disorder, autosomal recessive 12 | |
ST3GAL5 | | |
STAG1 | Mental retardation, autosomal dominant 47 | |
STAG2 | Holoprosencephaly 13, X-linked Mullegama-Klein-Martinez syndrome | |
STAMBP | Microcephaly-capillary malformation syndrome | Microcephaly-Capillary Malformation Syndrome |
STAR | Lipoid adrenal hyperplasia STAR syndrome | |
STAT2 | Immunodeficiency 44 Pseudo-TORCH syndrome 3 | |
STAT3 | Autoimmune disease, multisystem Hyper-IgE recurrent infection syndrome | STAT3 Hyper IgE Syndrome |
STAT5B | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Growth hormone insensitivity with immune dysregulation 2, autosomal dominant Leukemia, acute promyelocytic | |
STIL | Microcephaly 7, primary | |
STIM1 | Immunodeficiency 10 Myopathy, tubular aggregate Stormorken syndrome | |
STK11 | Melanoma, malignant Pancreatic cancer, somatic Peutz-Jeghers syndrome Testicular tumor, somatic | Peutz-Jeghers Syndrome |
STRA6 | Microphthalmia, isolated Microphthalmia, syndromic 9 | |
STRADA | Polyhydramnios, megalencephaly | |
STRC | Deafness, autosomal recessive 16 | Hereditary Hearing Loss and Deafness Overview CATSPER-Related Male Infertility |
STS | Ichthyosis, X-linked | |
STX11 | Hemophagocytic lymphohistiocytosis, familial | Familial Hemophagocytic Lymphohistiocytosis |
STX1B | Generalized epilepsy with febrile seizures plus, type 9 | |
STXBP1 | Developmental and epileptic encephalopathy 4 | STXBP1 Encephalopathy with Epilepsy |
STXBP2 | Hemophagocytic lymphohistiocytosis, familial | Familial Hemophagocytic Lymphohistiocytosis |
SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria |
SUCLG1 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria |
SUMF1 | Multiple sulfatase deficiency | Multiple Sulfatase Deficiency |
SUOX | Sulfite oxidase deficiency | Isolated Sulfite Oxidase Deficiency |
SURF1 | Charcot-Marie-Tooth disease, type 4K Mitochondrial complex IV deficiency, nuclear type 1 | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SUZ12 | Imagawa-Matsumoto syndrome | |
SVBP | Neurodevelopmental disorder with ataxia, hypotonia | |
SYN1 | Epilepsy, X-linked Intellectual developmental disorder, X-linked 50 | |
SYNE1 | Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8 | SYNE1 Deficiency |
SYNGAP1 | Mental retardation, autosomal dominant 5 | SYNGAP1-Related Intellectual Disability |
SYNJ1 | Developmental and epileptic encephalopathy 53 Parkinson disease 20, early-onset | |
SYP | Intellectual developmental disorder, X-linked 96 | |
SYT1 | Baker-Gordon syndrome | |
SZT2 | Developmental and epileptic encephalopathy 18 | |
TAB2 | Congenital heart defects, nonsyndromic | |
TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
TAF1 | Dystonia-Parkinsonism, X-linked Intellectual developmental disorder, X-linked syndromic 33 | X-Linked Dystonia-Parkinsonism Syndrome |
TAF13 | Mental retardation, autosomal recessive 60 | |
TAF2 | Intellectual developmental disorder, autosomal recessive 40 | |
TAF6 | Alazami-Yuan syndrome | |
TANGO2 | Metabolic encephalomyopathic crises, recurrent | TANGO2-Related Metabolic Encephalopathy and Arrhythmias |
TASP1 | Suleiman-El-Hattab syndrome | |
TAT | Tyrosinemia, type II | |
TAZ | Barth syndrome | |
TBC1D20 | Warburg micro syndrome 4 | RAB18 Deficiency |
TBC1D23 | Pontocerebellar hypoplasia, type 11 | |
TBC1D24 | DOORS syndrome Deafness, autosomal dominant 65 Deafness, autosomal recessive 86 Developmental and epileptic encephalopathy 16 Epilepsy, rolandic Myoclonic epilepsy, infantile | TBC1D24-Related Disorders |
TBCD | Encephalopathy, progressive | |
TBCE | Encephalopathy, progressive Hypoparathyroidism-retardation-dysmorphism syndrome Kenny-Caffey syndrome, type 1 | |
TBCK | Hypotonia, infantile | |
TBL1XR1 | Mental retardation, autosomal dominant 41 Pierpont syndrome | |
TBR1 | Intellectual developmental disorder with autism and speech delay | |
TBX1 | Conotruncal anomaly face syndrome DiGeorge syndrome Tetralogy of Fallot Velocardiofacial syndrome | 22q11.2 Deletion Syndrome |
TBX15 | Cousin syndrome | |
TBX18 | Congenital anomalies of kidney and urinary tract 2 | |
TBX20 | Atrial septal defect 4 | |
TBX22 | Cleft palate with ankyloglossia | |
TBX3 | Ulnar-mammary syndrome | |
TBX4 | Amelia, posterior Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | |
TBX5 | Holt-Oram syndrome | Holt-Oram Syndrome |
TBXAS1 | Ghosal hematodiaphyseal syndrome | |
TCAP | Cardiomyopathy, hypertrophic Muscular dystrophy, limb-girdle | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
TCF12 | Craniosynostosis 3 Hypogonadotropic hypogonadism 26 with or without anosmia | |
TCF20 | Developmental delay with variable intellectual impairment and behavioral abnormalities | |
TCF4 | Corneal dystrophy, Fuchs endothelial Pitt-Hopkins syndrome | Pitt-Hopkins Syndrome |
TCIRG1 | Osteopetrosis, autosomal recessive 1 | |
TCN2 | Transcobalamin II deficiency | |
TCOF1 | Treacher Collins syndrome 1 | Treacher Collins Syndrome |
TCTN1 | Joubert Syndrome | |
TCTN2 | Joubert syndrome 24 | Joubert Syndrome |
TCTN3 | Joubert syndrome 18 Orofaciodigital syndrome IV | Joubert Syndrome |
TECPR2 | Neuropathy, hereditary sensory and autonomic | |
TECTA | Deafness, autosomal dominant 8/12 Deafness, autosomal recessive 21 | Hereditary Hearing Loss and Deafness Overview |
TEK | Glaucoma 3, primary congenital Venous malformations, multiple cutaneous and mucosal | Primary Congenital Glaucoma Multiple Cutaneous and Mucosal Venous Malformations |
TELO2 | You-Hoover-Fong syndrome | |
TERC | Dyskeratosis congenita, autosomal dominant 1 | Pulmonary Fibrosis Predisposition Overview Dyskeratosis Congenita |
TERT | Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal recessive 4 Pulmonary fibrosis and/or bone marrow failure, telomere-related | Pulmonary Fibrosis Predisposition Overview Dyskeratosis Congenita |
TFAP2A | Branchiooculofacial syndrome | Branchiooculofacial Syndrome |
TFAP2B | Char syndrome Patent ductus arteriosus 2 | Char Syndrome |
TFG | Hereditary motor and sensory neuropathy, Okinawa type | |
TG | Thyroid dyshormonogenesis 3 | |
TGDS | Catel-Manzke syndrome | |
TGFB1 | Camurati-Engelmann disease Inflammatory bowel disease, immunodeficiency | Camurati-Engelmann Disease |
TGFB2 | Loeys-Dietz syndrome 4 | Loeys-Dietz Syndrome |
TGFB3 | Arrhythmogenic right ventricular dysplasia 1 Loeys-Dietz syndrome 5 | Arrhythmogenic Right Ventricular Cardiomyopathy Loeys-Dietz Syndrome |
TGFBR1 | Loeys-Dietz syndrome 1 | Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome |
TGFBR2 | Colorectal cancer, hereditary nonpolyposis Esophageal cancer, somatic Loeys-Dietz syndrome 2 | Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome |
TGIF1 | Holoprosencephaly 4 | Holoprosencephaly Overview |
TGM1 | Ichthyosis, congenital | Autosomal Recessive Congenital Ichthyosis |
TGM5 | Peeling skin syndrome 2 | Epidermolysis Bullosa Simplex |
TH | Segawa syndrome, recessive | Tyrosine Hydroxylase Deficiency |
THAP1 | Dystonia 6, torsion | |
THOC2 | Intellectual developmental disorder, X-linked 12 | |
THOC6 | Beaulieu-Boycott-Innes syndrome | THOC6 Intellectual Disability Syndrome |
THRA | Hypothyroidism, congenital | |
THRB | Thyroid hormone resistance Thyroid hormone resistance, autosomal recessive Thyroid hormone resistance, selective pituitary | |
TIMM8A | Mohr-Tranebjaerg syndrome | Deafness-Dystonia-Optic Neuronopathy Syndrome |
TINF2 | Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome | Dyskeratosis Congenita |
TJP2 | Cholestasis, progressive familial intrahepatic 4 Hypercholanemia, familial 1 | |
TK2 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form |
TKT | Short stature, developmental delay Spondylometaepiphyseal dysplasia, short limb-hand type Warburg-Cinotti syndrome | |
TLK2 | Intellectual developmental disorder, autosomal dominant 57 | |
TMC1 | Deafness, autosomal dominant 36 Deafness, autosomal recessive 7 | Hereditary Hearing Loss and Deafness Overview |
TMCO1 | Craniofacial dysmorphism, skeletal anomalies | |
TMEM107 | Meckel syndrome 13 Orofaciodigital syndrome XVI | Joubert Syndrome |
TMEM126B | Mitochondrial complex I deficiency, nuclear type 29 | |
TMEM127 | Hereditary Paraganglioma-Pheochromocytoma Syndromes | |
TMEM138 | Joubert syndrome 16 | Joubert Syndrome |
TMEM165 | Congenital disorder of glycosylation, type IIk | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
TMEM199 | Congenital disorder of glycosylation, type IIp | |
TMEM216 | Joubert syndrome 2 Meckel syndrome 2 | Joubert Syndrome |
TMEM231 | Joubert syndrome 20 Meckel syndrome 11 | Joubert Syndrome |
TMEM237 | Joubert syndrome 14 | Joubert Syndrome |
TMEM43 | Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, AD | Arrhythmogenic Right Ventricular Cardiomyopathy |
TMEM67 | COACH syndrome 1 Joubert syndrome 6 Meckel syndrome 3 Nephronophthisis 11 | Joubert Syndrome Nephronophthisis |
TMEM70 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | |
TMEM94 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
TMIE | Deafness, autosomal recessive 6 | Hereditary Hearing Loss and Deafness Overview |
TMPRSS3 | Deafness, autosomal recessive 8/10 | Hereditary Hearing Loss and Deafness Overview |
TMPRSS6 | Iron-refractory iron deficiency anemia | |
TMTC3 | Lissencephaly 8 | |
TMX2 | Neurodevelopmental disorder with microcephaly, cortical malformations | |
TNFRSF11B | Paget disease of bone 5, juvenile-onset | |
TNFRSF13B | Immunodeficiency, common variable Immunoglobulin A deficiency 2 | |
TNFSF11 | Osteopetrosis, autosomal recessive 2 | |
TNNC1 | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic | Hypertrophic Cardiomyopathy Overview |
TNNI2 | Arthrogryposis, distal | |
TNNI3 | Cardiomyopathy, dilated Cardiomyopathy, familial restrictive Cardiomyopathy, hypertrophic | Hypertrophic Cardiomyopathy Overview |
TNNT1 | Nemaline myopathy 5, Amish type | |
TNNT2 | Cardiomyopathy, dilated Cardiomyopathy, familial restrictive Cardiomyopathy, hypertrophic Left ventricular noncompaction 6 | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
TNNT3 | Arthrogryposis, distal | |
TOE1 | Pontocerebellar hypoplasia, type 7 | |
TOP3A | Microcephaly, growth restriction | |
TP53 | Bone marrow failure syndrome 5 Breast cancer, somatic Hepatocellular carcinoma, somatic Li-Fraumeni syndrome Nasopharyngeal carcinoma, somatic Pancreatic cancer, somatic 260350 (3) | Wilms Tumor Predisposition Li-Fraumeni Syndrome |
TP63 | ADULT syndrome Ectrodactyly, ectodermal dysplasia Hay-Wells syndrome Limb-mammary syndrome Orofacial cleft 8 Rapp-Hodgkin syndrome Split-hand/foot malformation 4 | TP63-Related Disorders |
TPI1 | Hemolytic anemia due to triosephosphate isomerase deficiency | |
TPK1 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | |
TPM1 | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 9 | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
TPM2 | Arthrogryposis, distal Arthrogryposis, distal CAP myopathy 2 Nemaline myopathy 4, autosomal dominant | |
TPM3 | CAP myopathy 1 Myopathy, congenital Nemaline myopathy 1, autosomal dominant or recessive | |
TPO | Thrombocythemia 1 Thyroid dyshormonogenesis 2A | |
TPP1 | Ceroid lipofuscinosis, neuronal Spinocerebellar ataxia, autosomal recessive 7 | |
TRAPPC11 | Muscular dystrophy, limb-girdle | |
TRAPPC2 | Spondyloepiphyseal dysplasia tarda | X-Linked Spondyloepiphyseal Dysplasia Tarda |
TRAPPC4 | Neurodevelopmental disorder with epilepsy, spasticity | |
TRAPPC9 | Mental retardation, autosomal recessive 13 | |
TRDN | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness | Catecholaminergic Polymorphic Ventricular Tachycardia |
TREX1 | Aicardi-Goutieres syndrome 1, dominant and recessive Chilblain lupus Vasculopathy, retinal | Aicardi-Goutieres Syndrome Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations |
TRIM2 | Charcot-Marie-Tooth disease, type 2R | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
TRIM32 | Muscular dystrophy, limb-girdle | Bardet-Biedl Syndrome Overview |
TRIM37 | Mulibrey nanism | |
TRIO | Intellectual developmental disorder, autosomal dominant 44 Intellectual developmental disorder, autosomal dominant 63 | TRIO-Related Intellectual Disability |
TRIOBP | Deafness, autosomal recessive 28 | Hereditary Hearing Loss and Deafness Overview |
TRIP11 | Achondrogenesis, type IA Odontochondrodysplasia 1 | |
TRIP12 | Mental retardation, autosomal dominant 49 | |
TRIP13 | Mosaic variegated aneuploidy syndrome 3 Oocyte maturation defect 9 | |
TRIP4 | Spinal muscular atrophy with congenital bone fractures 1 | |
TRIT1 | Combined oxidative phosphorylation deficiency 35 | |
TRMT1 | Intellectual developmental disorder, autosomal recessive 68 | |
TRMT10A | Microcephaly, short stature | |
TRMU | Liver failure, transient infantile | |
TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis Sideroblastic anemia with B-cell immunodeficiency, periodic fevers | |
TRPM1 | Night blindness, congenital stationary (complete) | |
TRPM4 | Erythrokeratodermia veriabilis et progressiva 6 Progressive familial heart block, type IB | Brugada Syndrome |
TRPM6 | Hypomagnesemia 1, intestinal | |
TRPS1 | Trichorhinophalangeal syndrome, type I Trichorhinophalangeal syndrome, type III | Trichorhinophalangeal Syndrome |
TRPV3 | Olmsted syndrome 1 | |
TRPV4 | Brachyolmia type 3 Digital arthropathy-brachydactyly, familial Hereditary motor and sensory neuropathy, type IIc Metatropic dysplasia Neuronopathy, distal hereditary motor Parastremmatic dwarfism SED, Maroteaux type Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type | Autosomal Dominant TRPV4 Disorders |
TRPV6 | Hyperparathyroidism, transient neonatal | Pancreatitis Overview |
TRRAP | Developmental delay with or without dysmorphic facies and autism | |
TSC1 | Focal cortical dysplasia, type II Lymphangioleiomyomatosis Tuberous sclerosis-1 | Tuberous Sclerosis Complex |
TSC2 | Lymphangioleiomyomatosis, somatic Tuberous sclerosis-2 | Tuberous Sclerosis Complex |
TSEN15 | Pontocerebellar hypoplasia, type 2F | |
TSEN2 | Pontocerebellar hypoplasia type 2B | |
TSEN54 | Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 | TSEN54 Pontocerebellar Hypoplasia |
TSFM | Combined oxidative phosphorylation deficiency 3 | |
TSHB | Hypothyroidism, congenital | |
TSHR | Hyperthyroidism, familial gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital Thyroid adenoma, hyperfunctioning Thyroid carcinoma with thyrotoxicosis, somatic (3) | |
TSPAN7 | Intellectual developmental disorder, X-linked 58 | |
TSPYL1 | Sudden infant death with dysgenesis of the testes syndrome | |
TTC19 | Mitochondrial complex III deficiency, nuclear type 2 | |
TTC21B | Nephronophthisis 12 Short-rib thoracic dysplasia 4 with or without polydactyly | Joubert Syndrome Nephronophthisis |
TTC37 | Trichohepatoenteric syndrome 1 | Trichohepatoenteric Syndrome |
TTC7A | Gastrointestinal defects and immunodeficiency syndrome | |
TTC8 | Bardet-Biedl syndrome 8 | Bardet-Biedl Syndrome Overview Nonsyndromic Retinitis Pigmentosa Overview |
TTN | Cardiomyopathy, dilated Cardiomyopathy, familial hypertrophic Muscular dystrophy, limb-girdle Myopathy, myofibrillar Salih myopathy Tibial muscular dystrophy, tardive | Dilated Cardiomyopathy Overview Udd Distal Myopathy - Tibial Muscular Dystrophy Salih Myopathy Hereditary Myopathy with Early Respiratory Failure |
TTPA | Ataxia with isolated vitamin E deficiency | Ataxia with Vitamin E Deficiency |
TTR | Amyloidosis, hereditary Carpal tunnel syndrome, familial | Hereditary Transthyretin Amyloidosis |
TUBA1A | Lissencephaly 3 | Tubulinopathies Overview |
TUBA8 | | |
TUBB | Cortical dysplasia, complex Symmetric circumferential skin creases, congenital | Tubulinopathies Overview |
TUBB2A | Cortical dysplasia, complex | Tubulinopathies Overview |
TUBB2B | Cortical dysplasia, complex | Congenital Fibrosis of the Extraocular Muscles Overview Tubulinopathies Overview |
TUBB3 | Cortical dysplasia, complex Fibrosis of extraocular muscles, congenital | Congenital Fibrosis of the Extraocular Muscles Overview Tubulinopathies Overview |
TUBB4A | Dystonia 4, torsion Leukodystrophy, hypomyelinating | TUBB4A-Related Leukodystrophy |
TUBG1 | Cortical dysplasia, complex | |
TUBGCP2 | Pachygyria, microcephaly | |
TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive | |
TUFM | Combined oxidative phosphorylation deficiency 4 | |
TUSC3 | Mental retardation, autosomal recessive 7 | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
TWIST1 | Craniosynostosis 1 Robinow-Sorauf syndrome Saethre-Chotzen syndrome with or without eyelid anomalies Sweeney-Cox syndrome | Saethre-Chotzen Syndrome |
TWIST2 | Ablepharon-macrostomia syndrome Barber-Say syndrome Focal facial dermal dysplasia 3, Setleis type | |
TWNK | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Perrault syndrome 5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | Infantile-Onset Spinocerebellar Ataxia Perrault Syndrome |
TXNL4A | Burn-McKeown syndrome | Burn-McKeown Syndrome |
TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | Mitochondrial Neurogastrointestinal Encephalopathy Disease |
TYR | Albinism, oculocutaneous Albinism, oculocutaneous Waardenburg syndrome/albinism, digenic | |
TYRP1 | Albinism, oculocutaneous | |
UBA1 | Spinal muscular atrophy, X-linked 2 VEXAS syndrome, somatic | Spinal Muscular Atrophy, X-Linked Infantile |
UBA5 | Developmental and epileptic encephalopathy 44 | |
UBE2A | Intellectual developmental disorder, X-linked syndromic | |
UBE2T | Fanconi anemia, complementation group T | Fanconi Anemia |
UBE3A | Angelman syndrome | Angelman Syndrome Prader-Willi Syndrome |
UBE3B | Kaufman oculocerebrofacial syndrome | Kaufman Oculocerebrofacial Syndrome |
UBR1 | Johanson-Blizzard syndrome | Pancreatitis Overview |
UBTF | Neurodegeneration, childhood-onset | |
UFC1 | Neurodevelopmental disorder with spasticity and poor growth | |
UFM1 | Leukodystrophy, hypomyelinating | |
UGDH | Developmental and epileptic encephalopathy 84 | |
UGP2 | Developmental and epileptic encephalopathy 83 | |
UGT1A1 | Crigler-Najjar syndrome, type I Crigler-Najjar syndrome, type II Hyperbilirubinemia, familial transient neonatal | |
UMOD | Tubulointerstitial kidney disease, autosomal dominant | Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD |
UMPS | Orotic aciduria | |
UNC13D | Hemophagocytic lymphohistiocytosis, familial | Familial Hemophagocytic Lymphohistiocytosis |
UNC80 | Hypotonia, infantile | UNC80 Deficiency |
UPB1 | Beta-ureidopropionase deficiency | |
UPF3B | Intellectual developmental disorder, X-linked syndromic 14 | |
UQCC2 | Mitochondrial complex III deficiency, nuclear type 7 | |
UQCRC2 | Mitochondrial complex III deficiency, nuclear type 5 | |
UROC1 | | |
UROD | Porphyria cutanea tarda Porphyria, hepatoerythropoietic | Familial Porphyria Cutanea Tarda Hepatoerythropoietic Porphyria |
UROS | Porphyria, congenital erythropoietic | Congenital Erythropoietic Porphyria |
USB1 | Poikiloderma with neutropenia | Poikiloderma with Neutropenia |
USH1C | Deafness, autosomal recessive 18A Usher syndrome, type 1C | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
USH1G | Usher syndrome, type 1G | Usher Syndrome Type I |
USH2A | Retinitis pigmentosa 39 Usher syndrome, type 2A | Usher Syndrome Type II Nonsyndromic Retinitis Pigmentosa Overview |
USP18 | Pseudo-TORCH syndrome 2 | |
USP9X | Intellectual developmental disorder, X-linked 99 Intellectual developmental disorder, X-linked 99 | |
UVSSA | UV-sensitive syndrome 3 | |
VAMP1 | Myasthenic syndrome, congenital Spastic ataxia 1, autosomal dominant | |
VAMP2 | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
VANGL1 | Caudal regression syndrome | |
VARS2 | Combined oxidative phosphorylation deficiency 20 Neurodevelopmental disorder with microcephaly, seizures | |
VCAN | Wagner syndrome 1 | VCAN-Related Vitreoretinopathy |
VCL | Cardiomyopathy, dilated Cardiomyopathy, hypertrophic | Dilated Cardiomyopathy Overview |
VCP | Charcot-Marie-Tooth disease, type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia |
VDR | Rickets, vitamin D-resistant | |
VHL | Erythrocytosis, familial Hemangioblastoma, cerebellar Pheochromocytoma Renal cell carcinoma, somatic von Hippel-Lindau syndrome | Von Hippel-Lindau Syndrome |
VIPAS39 | Arthrogryposis, renal dysfunction | |
VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | VLDLR Cerebellar Hypoplasia |
VPS13A | Choreoacanthocytosis | Chorea-Acanthocytosis |
VPS13B | Cohen syndrome | Cohen Syndrome |
VPS33B | Arthrogryposis, renal dysfunction | |
VPS37A | Spastic paraplegia 53, autosomal recessive | |
VPS45 | Neutropenia, severe congenital | |
VPS53 | Pontocerebellar hypoplasia, type 2E | |
VRK1 | Pontocerebellar hypoplasia type 1A | |
VSX2 | | |
VWF | von Willebrand disease, type 1 von Willebrand disease, type 3 von Willebrand disease, types 2A | von Willebrand Disease |
WAC | Desanto-Shinawi syndrome | WAC-Related Intellectual Disability |
WAS | Neutropenia, severe congenital Thrombocytopenia, X-linked Thrombocytopenia, X-linked Wiskott-Aldrich syndrome | WAS-Related Disorders |
WASF1 | Neurodevelopmental disorder with absent language and variable seizures | |
WDFY3 | | |
WDPCP | Congenital heart defects, hamartomas of tongue | Bardet-Biedl Syndrome Overview |
WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
WDR19 | Nephronophthisis 13 Senior-Loken syndrome 8 | Cranioectodermal Dysplasia Nephronophthisis |
WDR26 | Skraban-Deardorff syndrome | WDR26-Related Intellectual Disability |
WDR35 | Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly | Cranioectodermal Dysplasia |
WDR37 | Neurooculocardiogenitourinary syndrome | |
WDR45 | Neurodegeneration with brain iron accumulation 5 | Neurodegeneration with Brain Iron Accumulation Disorders Overview Beta-Propeller Protein-Associated Neurodegeneration |
WDR45B | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | |
WDR62 | Microcephaly 2, primary | WDR62 Primary Microcephaly |
WDR73 | Galloway-Mowat syndrome 1 | |
WDR81 | Cerebellar ataxia, mental retardation Hydrocephalus, congenital | |
WFS1 | Deafness, autosomal dominant 6/14/38 Wolfram syndrome 1 Wolfram-like syndrome, autosomal dominant | Hereditary Hearing Loss and Deafness Overview WFS1 Wolfram Syndrome Spectrum Disorder |
WHRN | Deafness, autosomal recessive 31 Usher syndrome, type 2D | Usher Syndrome Type II Hereditary Hearing Loss and Deafness Overview |
WNK1 | Neuropathy, hereditary sensory and autonomic Pseudohypoaldosteronism, type IIC | Hereditary Sensory and Autonomic Neuropathy Type II Pseudohypoaldosteronism Type II |
WNT1 | Osteogenesis imperfecta, type XV | |
WNT10A | Odontoonychodermal dysplasia Schopf-Schulz-Passarge syndrome Tooth agenesis, selective | Hypohidrotic Ectodermal Dysplasia |
WNT10B | Split-hand/foot malformation 6 Tooth agenesis, selective | |
WNT3 | | |
WNT4 | Mullerian aplasia and hyperandrogenism | |
WNT5A | Robinow syndrome, autosomal dominant 1 | Autosomal Dominant Robinow Syndrome |
WNT7A | Fuhrmann syndrome Ulna and fibula, absence of | |
WRAP53 | Dyskeratosis congenita, autosomal recessive 3 | Dyskeratosis Congenita |
WRN | Werner syndrome | Werner Syndrome |
WT1 | Denys-Drash syndrome Frasier syndrome Meacham syndrome Mesothelioma, somatic Nephrotic syndrome, type 4 Wilms tumor, type 1 | Wilms Tumor Predisposition PAX6-Related Aniridia WT1 Disorder |
WWOX | Developmental and epileptic encephalopathy 28 Esophageal squamous cell carcinoma, somatic Spinocerebellar ataxia, autosomal recessive 12 | |
XIAP | Lymphoproliferative syndrome, X-linked | Lymphoproliferative Disease, X-Linked |
XPA | Xeroderma pigmentosum, group A | Xeroderma Pigmentosum |
XPC | Xeroderma pigmentosum, group C | Xeroderma Pigmentosum |
XRCC4 | Short stature, microcephaly | |
XYLT1 | Desbuquois dysplasia 2 | |
XYLT2 | Spondyloocular syndrome | |
YAP1 | Coloboma, ocular | |
YARS2 | Myopathy, lactic acidosis | |
YIF1B | Kaya-Barakat-Masson syndrome | |
YWHAG | Developmental and epileptic encephalopathy 56 | |
YY1 | Gabriele-de Vries syndrome | Gabriele-de Vries Syndrome |
ZAP70 | Autoimmune disease, multisystem Immunodeficiency 48 | ZAP70-Related Combined Immunodeficiency |
ZBTB18 | Mental retardation, autosomal dominant 22 | |
ZBTB20 | Primrose syndrome | Primrose Syndrome |
ZBTB24 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | |
ZC3H14 | Intellectual developmental disorder, autosomal recessive 56 | |
ZC4H2 | Wieacker-Wolff syndrome Wieacker-Wolff syndrome, female-restricted | |
ZDHHC9 | Mental retardation, X-linked syndromic | |
ZEB2 | Mowat-Wilson syndrome | Mowat-Wilson Syndrome |
ZFP57 | Diabetes mellitus, transient neonatal 1 | Diabetes Mellitus, 6q24-Related Transient Neonatal |
ZFPM2 | 46XY sex reversal 9 Diaphragmatic hernia 3 Tetralogy of Fallot | |
ZFYVE26 | Spastic paraplegia 15, autosomal recessive | Spastic Paraplegia 15 |
ZIC1 | Structural brain anomalies with impaired intellectual development and craniosynostosis | |
ZIC2 | Holoprosencephaly 5 | Holoprosencephaly Overview |
ZIC3 | Congenital heart defects, nonsyndromic Heterotaxy, visceral VACTERL association, X-linked | |
ZMIZ1 | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | |
ZMPSTE24 | Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal | |
ZMYND10 | Ciliary dyskinesia, primary | Primary Ciliary Dyskinesia |
ZMYND11 | Mental retardation, autosomal dominant 30 | |
ZNF335 | Microcephaly 10, primary | |
ZNF423 | Joubert syndrome 19 Nephronophthisis 14 | Joubert Syndrome Nephronophthisis |
ZNF462 | Weiss-Kruszka syndrome | Weiss-Kruszka Syndrome |
ZNF469 | Brittle cornea syndrome 1 | |
ZNHIT3 | PEHO syndrome | |
ADAMTS19 | | |
ADPRHL2 | Neurodegeneration, childhood-onset | |
AGR2 | | |
ATP5MD | | |
BCKDK | Branched-chain keto acid dehydrogenase kinase deficiency | |
BRD4 | Cornelia de Lange Syndrome | |
C15orf41 | Dyserythropoietic anemia, congenital | |
CCDC114 | Ciliary dyskinesia, primary | |
CCDC151 | Ciliary dyskinesia, primary | |
CD2AP | Glomerulosclerosis, focal segmental | |
CLCNKA | Bartter syndrome, type 4b | |
CNKSR2 | Intellectual developmental disorder, X-linked | |
CSNK1E | | |
Cxorf56 | | |
EMC10 | Neurodevelopmental disorder with dysmorphic facies and variable seizures | |
EMX2 | Schizencephaly | |
EXOC3L2 | | |
GOLGA2 | | |
HACD1 | | |
IMPAD1 | Chondrodysplasia with joint dislocations, GPAPP type | |
IPO8 | VISS syndrome | |
KARS | Deafness, autosomal recessive 89 Deafness, congenital Leukoencephalopathy, progressive | |
NUDT2 | | |
PIH1D3 | Ciliary dyskinesia, primary | |
PPP1R21 | Neurodevelopmental disorder with hypotonia, facial dysmorphism | |
RAB11A | | |
RHOA | Ectodermal dysplasia with facial dysmorphism and acral, ocular | |
SCAMP5 | | |
SHANK1 | | |
SHROOM4 | Intellectual developmental disorder, X-linked syndromic | |
SLC26A7 | | |
TAOK1 | Developmental delay with or without intellectual impairment or behavioral abnormalities | |
TTC26 | Biliary, renal | |
USP53 | Cholestasis, progressive familial intrahepatic | |
VPS41 | Spinocerebellar ataxia, autosomal recessive 29 | |
WDR34 | Short-rib thoracic dysplasia 11 with or without polydactyly | |
WDR60 | Short-rib thoracic dysplasia 8 with or without polydactyly | |
ZNF711 | Intellectual developmental disorder, X-linked 97 | |