| Achalasia-addisonianism-alacrimia syndrome |
| Charcot-Marie-Tooth disease, axonal, type 2N; Epileptic encephalopathy, early infantile, 29 |
| Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure |
| Hyperlysinemia; Saccharopinuria |
| GABA-transaminase deficiency |
| Tangier disease; HDL deficiency, type 2; {Coronary artery disease in familial hypercholesterolemia, protection against} |
| Ichthyosis, congenital, autosomal recessive 4A; Ichthyosis, congenital, autosomal recessive 4B (harlequin) |
| Surfactant metabolism dysfunction, pulmonary, 3 |
| Stargardt disease 1; Retinitis pigmentosa 19; Cone-rod dystrophy 3; {Macular degeneration, age-related, 2}; Fundus flavimaculatus; Retinal dystrophy, early-onset severe |
| Cholestasis, progressive familial intrahepatic 2; Cholestasis, benign recurrent intrahepatic, 2 |
| Cholestasis, progressive familial intrahepatic 3; Cholestasis, intrahepatic, of pregnancy, 3; Gallbladder disease 1 |
| Metachromtaic leukodystrophy |
| Dubin-Johnson syndrome |
| Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 |
| Hyperinsulinemic hypoglycemia, familial, 1; Hypoglycemia of infancy, leucine-sensitive; Diabetes mellitus, transient neonatal 2; Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal |
| Adrenoleukodystrophy; Adrenomyeloneuropathy, adult |
| ?Bile acid synthesis defect, congenital, 5 |
| Methylmalonic aciduria and homocystinuria, cblJ type |
| Sitosterolemia |
| Sitosterolemia, 210250 (3); {Gallbladder disease 4} |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| Chanarin-Dorfman syndrome |
| Acetyl-CoA carboxylase deficiency |
| Mitochondrial complex I deficiency due to ACAD9 deficiency |
| Acyl-CoA dehydrogenase, medium chain, deficiency of |
| Acyl-CoA dehydrogenase, short-chain, deficiency of |
| 2-methylbutyrylglycinuria |
| VLCAD deficiency |
| ?Spondyloepiphyseal dysplasia, Kimberley type; ?Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans |
| Alpha-methylacetoacetic aciduria |
| ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 |
| {Myocardial infarction, susceptibility to}; {Microvascular complications of diabetes 3}; [Angiotensin I-converting enzyme, benign serum increase]; {SARS, progression of} ; Renal tubular dysgenesis; {Stroke, hemorrhagic} |
| ?Leukodystrophy, progressive, early childhood-onset |
| [Blood group, Duffy system]; {Malaria, vivax, protection against}; [White blood cell count QTL] |
| Infantile cerebellar-retinal degeneration; ?Optic atrophy 9 |
| Peroxisomal acyl-CoA oxidase deficiency |
| Bile acid synthesis defect, congenital, 6 |
| ?Lysosomal acid phosphatase deficiency |
| Spondyloenchondrodysplasia with immune dysregulation |
| Amelogenesis imperfecta, type IJ |
| Nemaline myopathy 3, autosomal dominant or recessive; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, actin, congenital, with cores; Myopathy, congenital, with fiber-type disproportion 1; ?Myopathy, scapulohumeroperoneal |
| Aminoacylase 1 deficiency |
| Severe combined immunodeficiency due to ADA deficiency; Adenosine deaminase deficiency, partial |
| ?Inflammatory skin and bowel disease, neonatal, 1 |
| – |
| Weill-Marchesani syndrome 1, recessive |
| Thrombotic thrombocytopenic purpura, familial |
| Weill-Marchesani 4 syndrome, recessive |
| Microcornea, myopic chorioretinal atrophy, and telecanthus |
| Ehlers-Danlos syndrome, dermatosparaxix type |
| Geleophysic dysplasia 1 |
| Ectopia lentis, isolated, autosomal recessive; Ectopia lentis et pupillae |
| Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome 6 |
| Mental retardation, autosomal recessive 36 |
| ?Deafness, autosomal recessive 44 |
| ?Lethal congenital contracture syndrome 8 |
| Cerebral palsy, spastic quadriplegic, 3 |
| Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian |
| Lethal congenital contracture syndrome 9 |
| ?Febrile seizures, familial, 4; Usher syndrome, type 2C; Usher syndrome, type 2C, GPR98/PDZD7 digenic |
| Hypermethioninemia due to adenosine kinase deficiency |
| {Asthma, nocturnal, susceptibility to}; {Obesity, susceptibility to}; Beta-2-adrenoreceptor agonist, reduced response to |
| {Obesity, susceptibility to} |
| Adenylosuccinase deficiency |
| Myopathy, distal, 5 |
| – |
| Mental retardation, X-linked, FRAXE type |
| Spinocerebellar ataxia 28; Spastic ataxia 5, autosomal recessive |
| [Hereditary persistence of alpha-fetoprotein]; Alpha-fetoprotein deficiency |
| Aspartylglucosaminuria |
| Retinitis pigmentosa 75 |
| Sengers syndrome; Cataract 38, autosomal recessive |
| Glycogen storage disease IIIa; Glycogen storage disease IIIb |
| Lipodystrophy, congenital generalized, type 1 |
| Rhizomelic chondrodysplasia punctata, type 3 |
| Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
| {Obesity, late-onset}{Leanness, inherited} |
| {Hypertension, essential, susceptibility to}; {Preeclampsia, susceptibility to}; Renal tubular dysgenesis |
| {Hypertension, essential}; Renal tubular dysgenesis |
| Hyperoxaluria, primary, type 1 |
| [Beta-aminoisobutyric acid, urinary excretion of] |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| Joubert syndrome 3 |
| ?Alopecia-mental retardation syndrome 1 |
| Immunodeficiency with hyper-IgM, type 2 |
| Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; Deafness, X-linked 5 |
| Leukodystrophy, hypomyelinating, 3 |
| – |
| Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile; Cone-rod dystrophy |
| Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
| Hemolytic anemia due to adenylate kinase deficiency |
| Reticular dysgenesis |
| – |
| Obesity, hyperphagia, and developmental delay; 46XY sex reversal 8 |
| {46XY sex reversal 8, modifier of} |
| Bile acid synthesis defect, congenital, 2 |
| Porphyria, acute hepatic; {Lead poisoning, susceptibility to} |
| Anemia, sideroblastic, 1; Protoporphyria, erythropoietic, X-linked |
| Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive; Cutis laxa, autosomal dominant 3 |
| Microphthalmia, isolated 8 |
| Sjogren-Larsson syndrome |
| Hyperprolinemia, type II |
| Succinic semialdehyde dehydrogenase deficiency |
| Methylmalonate semialdehyde dehydrogenase deficiency |
| Epilepsy, pyridoxine-dependent |
| Glycogen storage disease XII |
| Fructose intolerance, hereditary |
| Congenital disorder of glycosylation, type Ik |
| Congenital disorder of glycosylation, type Ig |
| ?Congenital disorder of glycosylation, type Ii; Myasthenic syndrome, congenital, 14, with tubular aggregates |
| Congenital disorder of glycosylation, type Id |
| Congenital disorder of glycosylation, type Ic |
| Congenital disorder of glycosylation, type Ih; Polycystic liver disease 3 with or without kidney cysts |
| Congenital disorder of glycosylation, type Il; Gillessen-Kaesbach-Nishimura syndrome |
| Alstrom syndrome |
| Ichthyosis, congenital, autosomal recessive 2 |
| Ichthyosis, congenital, autosomal recessive 3 |
| Hypophosphatasia, infantile; Hypophosphatasia, childhood; Odontohypophosphatasia; Hypophosphatasia, adult |
| Amyotrophic lateral sclerosis 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending |
| Frontonasal dysplasia 1 |
| Parietal foramina 2; Frontonasal dysplasia 2; {Craniosynostosis 5, susceptibility to} |
| Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 |
| Amelogenesis imperfecta, type IF |
| Persistent Mullerian duct syndrome, type I |
| Persistent Mullerian duct syndrome, type II |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
| Megaloblastic anemia-1, Norwegian type |
| Myopathy due to myoadenylate deaminase deficiency |
| ?Spastic paraplegia 63; Pontocerebellar hypoplasia, type 9 |
| [AMP deaminase deficiency, erythrocytic] |
| Glycine encephalopathy |
| Hypobetalipoproteinemia, familial, 2 |
| ?Mental retardation, autosomal recessive, 37 |
| ?Microcephaly 16, primary, autosomal recessive |
| Nephronophthisis 16 |
| Spinocerebellar ataxia, autosomal recessive 10 |
| Gnathodiaphyseal dysplasia; Muscular dystrophy, limb-girdle, type 2L; Miyoshi muscular dystrophy 3 |
| Scott syndrome |
| Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
| GAPO syndrome; {?Hemangioma, capillary infantile, susceptibility to} |
| Hyaline fibromatosis syndrome |
| MEDNIK syndrome |
| Mental retardation, X-linked syndromic 5 |
| Hermansky-Pudlak syndrome 2 |
| Epileptic encephalopathy, early infantile, 48 |
| ?Hermansky-Pudlak syndrome 10 |
| Spastic paraplegia 47, autosomal recessive |
| Spastic paraplegia 51, autosomal recessive; Stuttering, familial persistent, 1 |
| Spastic paraplegia 50, autosomal recessive |
| Spastic paraplegia 52, autosomal recessive |
| Spastic paraplegia 48, autosomal recessive |
| ?Sotos syndrome 3 |
| Hypobetalipoproteinemia; Hypercholesterolemia, due to ligand-defective apo B |
| Hyperlipoproteinemia, type Ib |
| Hyperlipoproteinemia, type III; Sea-blue histiocyte disease; Alzheimer disease-2; {?Macular degeneration, age-related}; Lipoprotein glomerulopathy; {Coronary artery disease, severe, susceptibility to} |
| Mitochondrial complex IV deficiency |
| Adenine phosphoribosyltransferase deficiency |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| Diabetes insipidus, nephrogenic |
| [Glycerol quantitative trait locus] |
| Androgen insensitivity; Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity, partial, with or without breast cancer; {Prostate cancer, susceptibility to}; Hypospadias 1, X-linked |
| Periventricular heterotopia with microcephaly, 608097 (3) |
| Argininemia, 207800 (3) |
| Nephrotic syndrome, type 8 |
| Retinitis pigmentosa 78 |
| Mental retardation, X-linked 46 |
| Epileptic encephalopathy, early infantile, 8 |
| Joubert syndrome 8 |
| Retinitis pigmentosa with or without situs inversus |
| Bardet-Biedl syndrome 3; {Bardet-Biedl syndrome 1, modifier of}; ?Retinitis pigmentosa 55 |
| ?Spastic paraplegia 61, autosomal recessive |
| Ciliary dyskinesia, primary, 23 |
| ?Webb-Dattani syndrome |
| Metachromatic leukodystrophy |
| Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
| Chondrodysplasia punctata, X-linked recessive |
| Epileptic encephalopathy, early infantile, 38 |
| Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked 29 and others; Proud syndrome; Partington syndrome; Hydranencephaly with abnormal genitalia |
| Farber lipogranulomatosis, 228000 (3); Spinal muscular atrophy with progressive myoclonic epilepsy |
| Barrett esophagus/esophageal adenocarcinoma; ?Spinal muscular atrophy with congenital bone fractures 2 |
| Argininosuccinic aciduria |
| Asparagine synthetase deficiency |
| Canavan disease |
| Traboulsi syndrome |
| Microcephaly 5, primary, autosomal recessive |
| Citrullinemia |
| Harel-Yoon syndrome |
| Ataxia, cerebellar, Cayman type |
| Achromatopsia 7 |
| ?Spinocerebellar ataxia, autosomal recessive 25 |
| AICA-ribosiduria due to ATIC deficiency |
| Ataxia-telangiectasia; Lymphoma, B-cell non-Hodgkin, somatic; {Breast cancer, susceptibility to}; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, somatic |
| Persistent hyperplastic primary vitreous, autosomal recessive |
| Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive |
| Brody myopathy |
| {Deafness, autosomal recessive 12, modifier of} |
| ?Spinocerebellar ataxia, X-linked 1 |
| ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4; ?Combined oxidative phosphorylation deficiency 22 |
| Immunodeficiency 47 |
| Mental retardation, X-linked, syndromic, Hedera type; ?Parkinsonism with spasticity, X-linked |
| Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome |
| Cutis laxa, autosomal recessive, type IID |
| Renal tubular acidosis with deafness |
| Cutis laxa, autosomal recessive, type IIC |
| Menkes disease; Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3 |
| Wilson disease |
| ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
| Cholestasis, progressive familial intrahepatic 1; Cholestasis, benign recurrent intrahepatic; Cholestasis, intrahepatic, of pregnancy, 1 |
| ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 |
| Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial |
| Alpha-thalassemia/mental retardation syndrome Alpha-thalassemia myelodysplasia syndrome, somatic; Mental retardation-hypotonic facies syndrome, X-linked |
| 3-methylglutaconic aciduria, type I |
| Spermatogenic failure 5 |
| Diabetes insipidus, nephrogenic; Nephrogenic syndrome of inappropriate antidiuresis |
| Immunodeficiency 43, 241600 (3); ?Amyloidosis, familial visceral |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
| Peters-plus syndrome |
| Spastic paraplegia 26, autosomal recessive |
| Congenital disorder of glycosylation, type Iid |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 |
| ?Meckel syndrome 9; Joubert syndrome 27 |
| ?Meckel syndrome 10; Joubert syndrome 34 |
| Nestor-Guillermo progeria syndrome |
| ?Bardet-Biedl syndrome 18 |
| Bardet-Biedl syndrome 1 |
| Bardet-Biedl syndrome 10 |
| Bardet-Biedl syndrome 12 |
| Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 |
| Bardet-Biedl syndrome 4 |
| Bardet-Biedl syndrome 5 |
| Bardet-Biedl syndrome 7 |
| Bardet-Biedl syndrome 9 |
| [Blood group, Auberger system] ; [Blood group, Lutheran null] ; [Blood group, Lutheran system] |
| Deafness, dystonia, and cerebral hypomyelination |
| Maple syrup urine disease, type Ia |
| Maple syrup urine disease, type Ib |
| Lymphoma, MALT, somatic; {Lymphoma, follicular, somatic}; {Male germ cell tumor, somatic}; {Sezary syndrome, somatic}; {Mesothelioma, somatic}; ?Immunodeficiency 37 |
| Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome |
| Cataract 33, multiple types |
| Spondyloepimetaphyseal dysplasia, X-linked; Meester-Loeys syndrome |
| Syndactyly, mesoaxial synostotic, with phalangeal reduction; ?Camptosynpolydactyly, complex |
| Centronuclear myopathy 2 |
| Bloom syndrome |
| ?Agammaglobulinemia 4 |
| Hermansky-Pudlak syndrome 8 |
| ?Hermansky-pudlak syndrome 9 |
| Hyperbiliverdinemia |
| Osteogenesis imperfecta, type XIII |
| {HFE hemochromatosis, modifier of}; Brachydactyly, type A2; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
| Diaphanospondylodysostosis, 608022 (3) |
| Brachydactyly, type A2; Acromesomelic dysplasia, Demirhan type; Brachydactyly, type A1, D |
| Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia |
| Erythrocytosis due to bisphosphoglycerate mutase deficiency |
| Melanoma, malignant, somatic; Colorectal cancer, somatic; Adenocarcinoma of lung, somatic; Nonsmall cell lung cancer, somatic; Cardiofaciocutaneous syndrome; Noonan syndrome 7; LEOPARD syndrome 3 |
| Rigidity and multifocal seizure syndrome, lethal neonatal |
| {Breast-ovarian cancer, familial, 1}; {Pancreatic cancer, susceptibility to, 4}; Fanconi anemia, complementation group S |
| {Breast-ovarian cancer, familial, 2}; Fanconi anemia, complementation group D1; {Prostate cancer}; {Breast cancer, male, susceptibility to}; Wilms tumor; {Medulloblastoma}; {Glioblastoma 3}; {Pancreatic cancer 2} |
| Cerebellofaciodental syndrome |
| Mental retardation, X-linked 93 |
| Encephalopathy, progressive, with or without lipodystrophy; Lipodystrophy, congenital generalized, type 2; Neuropathy, distal hereditary motor, type VA; Silver spastic paraplegia syndrome |
| Bartter syndrome, type 4a; Sensorineural deafness with mild renal dysfunction |
| Biotinidase deficiency |
| Agammaglobulinemia, X-linked 1; Agammaglobulinemia and isolated hormone deficiency |
| Colorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1; [Premature chromatid separation trait] |
| ?Muscular dystrophy, limb-girdle, type 2X |
| Albinism, oculocutaneous, type VII |
| Temtamy syndrome |
| Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive |
| Dyserythropoietic anemia, congenital, type Ib |
| Neurodegeneration with brain iron accumulation 4; ?Spastic paraplegia 43, autosomal recessive |
| C1q deficiency |
| C1q deficiency |
| C1q deficiency |
| C2 deficiency; {Macular degeneration, age-related, 14, reduced risk of} |
| Spondylometaphyseal dysplasia, axial; Retinal dystrophy with macular staphyloma |
| Ciliary dyskinesia, primary, 26 |
| ?Orofaciodigital syndrome XIV |
| C3 deficiency; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}; {Macular degeneration, age-related, 9} |
| Amelogenesis imperfecta, type IIA4 |
| Joubert syndrome 17; Orofaciodigital syndrome VI, |
| C8 deficiency, type I |
| C8 deficiency, type II |
| Retinitis pigmentosa 64; Cone-rod dystrophy 16; Bardet-Biedl syndrome 21 |
| Hyperchlorhidrosis, isolated |
| Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
| Hyperammonemia due to carbonic anhydrase VA deficiency |
| Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
| Deafness, autosomal recessive 93 |
| Cone-rod synaptic disorder, congenital nonprogressive |
| Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities |
| Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystrophy, X-linked, 3 Aland Island eye disease |
| Retinal cone dystrophy 4 |
| Epileptic encephalopathy, early infantile, 50 |
| Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 |
| Spastic paraplegia 76, autosomal recessive |
| Muscular dystrophy, limb-girdle, type 2A |
| B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11A; Immunodeficiency 11B with atopic dermatitis |
| Candidiasis, familial, 2, autosomal recessive |
| Combined oxidative phosphorylation deficiency 27 |
| {?Obesity, susceptibility to} |
| Ichthyosis, congenital, autosomal recessive 12 |
| ?Autoimmune lymphoproliferative syndrome, type IIB; Hepatocellular carcinoma, somatic; {Breast cancer, protection against}; {Lung cancer, protection against} |
| Ventricular tachycardia, catecholaminergic polymorphic, 2 |
| Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalcemia, autosomal dominant, with Bartter syndrome{Epilepsy idiopathic generalized, susceptibility to, 8}; Hypercalciuric hypercalcemia; {Calcium, serum level of} |
| Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
| Spermatogenic failure 7 |
| Muscular dystrophy, limb-girdle, type IC; Rippling muscle disease; Creatine phosphokinase, elevated serum; Myopathy, distal, Tateyama type; Cardiomyopathy, familial hypertrophic; Long QT syndrome 9 |
| Homocystinuria, B6-responsive and nonresponsive types; Thrombosis, hyperhomocysteinemic |
| ?46XY sex reversal 5 |
| Mental retardation, autosomal recessive 3 |
| Joubert syndrome 9; Meckel syndrome 6; COACH syndrome |
| Hennekam lymphangiectasia-lymphedema syndrome 1 |
| Ciliary dyskinesia, primary, 17 |
| Ciliary dyskinesia, primary, 20 |
| Congenital disorder of glycosylation, type Iio |
| Ciliary dyskinesia, primary, 30 |
| Hypotonia, infantile, with psychomotor retardation |
| Ritscher-Schinzel syndrome 2 |
| {Bardet-Biedl syndrome 1, modifier of} |
| Ciliary dyskinesia, primary, 27 |
| 3-M syndrome 3 |
| ?PEHO syndrome-like |
| Hydrocephalus, nonsyndromic, autosomal recessive; ?Spinocerebellar ataxia 40 |
| Ciliary dyskinesia, primary, 29, 615872 (3) |
| Neuropathy, hereditary sensory, with spastic paraplegia |
| Immunodeficiency, common variable, 3 |
| ?Immunodeficiency 25 |
| Lymphoproliferative syndrome 2 |
| [Macrothrombocytopenia]; Platelet glycoprotein IV deficiency; {Malaria, cerebral, susceptibility to}; {Malaria, cerebral, reduced risk of}; {Coronary heart disease, susceptibility to, 7} |
| Immunodeficiency 19 |
| Immunodeficiency 18, 615615 (3); Immunodeficiency 18, SCID variant |
| Immunodeficiency 17, CD3 gamma deficient |
| Immunodeficiency with hyper-IgM, type 3 |
| Immunodeficiency, X-linked, with hyper-IgM |
| {Hemolytic uremic syndrome, atypical, susceptibility to, 2} |
| [Blood group Cromer]; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy] |
| Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy |
| Agammaglobulinemia 3 |
| Agammaglobulinemia 6 |
| Immunodeficiency, common variable, 6 |
| CD8 deficiency, familial |
| Dyserythropoietic anemia, congenital, type Ia |
| Deafness, autosomal recessive 105 |
| Meier-Gorlin syndrome 7 |
| ?Meier-Gorlin syndrome 5 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
| – |
| Usher syndrome, type 1D; Deafness, autosomal recessive 12; Usher syndrome, type 1D/F digenic; {Pituitary adenoma 5, multiple types} |
| Hypotrichosis, congenital, with juvenile macular dystrophy; Ectodermal dysplasia, ectrodactyly, and macular dystrophy |
| Cone-rod dystrophy 15; Retinitis pigmentosa 65 |
| Al Kaissi syndrome |
| ?Lissencephaly 7 with cerebellar hypoplasia |
| Microcephaly 3, primary, autosomal recessive |
| ?Microcephaly 12, primary, autosomal recessive |
| Hypotrichosis 2; Peeling skin syndrome 1 |
| Meier-Gorlin syndrome 4 |
| Specific granule deficiency |
| Polyarteritis nodosa, childhood-onset); ?Sneddon syndrome |
| ?Microcephaly 13, primary, autosomal recessive |
| Stromme syndrome |
| Microcephaly 6, primary, autosomal recessive; ?Seckel syndrome 4 |
| Joubert syndrome 25 |
| Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 |
| Microcephaly 8, primary, autosomal recessive |
| Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 |
| Nephronophthisis 15 |
| Morbid obesity and spermatogenic failure |
| Joubert syndrome 5; Senior-Loken syndrome 6; Leber congenital amaurosis 10; Meckel syndrome 4; ?Bardet-Biedl syndrome 14 |
| Joubert syndrome 15 |
| Mosaic variegated aneuploidy syndrome 2 |
| ?Seckel syndrome 6 |
| Cone-rod dystrophy and hearing loss |
| Nephronophthisis 18 |
| ?Epilepsy, progressive myoclonic, 8 |
| Ichthyosis, congenital, autosomal recessive 9 |
| Heterotaxy, visceral, 6, autosomal recessive |
| Complement factor D deficiency |
| {Hemolytic uremic syndrome, atypical, susceptibility to, 1}; Complement factor H deficiency; {Macular degeneration, age-related, 4}; Basal laminar drusen |
| {Macular degeneration, age-related, reduced risk of}; {Hemolytic uremic syndrome, atypical, susceptibility to} |
| {Macular degeneration, age-related, reduced risk of}; {Hemolytic uremic syndrome, atypical, susceptibility to} |
| Complement factor I deficiency; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}; {Macular degeneration, age-related, 13, susceptibility to} |
| Nemaline myopathy 7, autosomal recessive |
| Properdin deficiency, X-linked |
| Cystic fibrosis; Congenital bilateral absence of vas deferens; Sweat chloride elevation without CF; {Pancreatitis, idiopathic},{Hypertrypsinemia, neonatal}; {Bronchiectasis with or without elevated sweat chloride 1, modifier of} |
| Myasthenic syndrome, congenital, 6, presynaptic |
| Li-Fraumeni syndrome; Osteosarcoma, somatic; {Breast cancer, susceptibility to}; {Prostate cancer, familial, susceptibility to}; {Breast and colorectal cancer, susceptibility to} |
| [Chitotriosidase deficiency] |
| Muscular dystrophy, congenital, megaconial type |
| Pontocerebellar hypoplasia, type 8 |
| Megalocornea 1, X-linked |
| ?Prune belly syndrome |
| Myasthenic syndrome, congenital, 1A, slow-channel; Myasthenic syndrome, congenital, 1B, fast-channel; Multiple pterygium syndrome, lethal type |
| Myasthenic syndrome, congenital, 2A, slow-channel; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency |
| ?Myasthenic syndrome, congenital, 3A, slow-channel; Myasthenic syndrome, congenital, 3B, fast-channel; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; Multiple pterygium syndrome, lethal type |
| Myasthenic syndrome, congenital, 4A, slow-channel; Myasthenic syndrome, congenital, 4B, fast-channel; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency |
| Escobar syndrome; Multiple pterygium syndrome, lethal type |
| Ehlers-Danlos syndrome, musculocontractural type 1 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations |
| Macular corneal dystrophy |
| ?Peeling skin syndrome 3 |
| Temtamy preaxial brachydactyly syndrome |
| Deafness, autosomal recessive 48; Usher syndrome, type IJ |
| ?Lipodystrophy, familial partial, type 5 |
| Bare lymphocyte syndrome, type II, complementation group A; {Rheumatoid arthritis, susceptibility to} |
| Wolfram syndrome 2 |
| Microcephaly 17, primary, autosomal recessive |
| Filippi syndrome |
| Cold-induced sweating syndrome 2 |
| Myotonia congenita, recessive; Myotonia congenita, dominant; Myotonia levior, recessive |
| {Epilepsy, juvenile myoclonic, susceptibility to, 8}; {Epilepsy, juvenile absence, susceptibility to, 2}; {Epilepsy, idiopathic generalized, susceptibility to, 11}; Leukoencephalopathy with ataxia |
| Mental retardation, X-linked 49/15 |
| Dent disease; Nephrolithiasis, type I; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
| Bartter syndrome, type 4b, digenic |
| Bartter syndrome, type 3, 607364 (3); Bartter syndrome, type 4b, digenic |
| Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
| Deafness, autosomal recessive 29 |
| Hypomagnesemia 3, renal |
| Hypomagnesemia 5, renal, with ocular involvement |
| Candidiasis, familial, 4, autosomal recessive; {Aspergillosis, susceptibility to} |
| ?Mental retardation, X-linked, syndromic 32 |
| ?Deafness, autosomal recessive 103 |
| Congenital short bowel syndrome |
| Ceroid lipofuscinosis, neuronal, 3 |
| Ceroid lipofuscinosis, neuronal, 5 |
| Ceroid lipofuscinosis, neuronal, 6; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset |
| Ceroid lipofuscinosis, neuronal, 8, 600143 (3); Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant |
| Pontocerebellar hypoplasia, type 10 |
| 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia |
| Perrault syndrome 3 |
| Usher syndrome, type 3A; Retinitis pigmentosa 61 |
| Achromatopsia 2 |
| Retinitis pigmentosa 45 |
| Achromatopsia 3; Macular degeneration, juvenile |
| Hypomagnesemia 6, renal; Hypomagnesemia, seizures, and mental retardation |
| Jalili syndrome |
| – |
| ?Myopathy, congenital, Compton-North |
| ?Epilepsy, myoclonic, familial adult, 5 |
| Lethal congenital contracture syndrome 7 |
| Cortical dysplasia-focal epilepsy syndrome {Autism susceptibility 15}; Pitt-Hopkins like syndrome 1 |
| ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
| Neurodegeneration with brain iron accumulation 6 |
| ?Congenital disorder of glycosylation, type Iiq |
| Congenital disorder of glycosylation, type Iij |
| Congenital disorder of glycosylation, type IIl; Shaheen syndrome |
| Stickler syndrome, type II; Marshall syndrome; {Lumbar disc herniation, susceptibility to}; Fibrochondrogenesis 1 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia, autosomal dominant |
| Myasthenic syndrome, congenital, 19 |
| Epidermolysis bullosa, junctional, non-Herlitz type; Epidermolysis bullosa, junctional, localisata variant; Epithelial recurrent erosion dystrophy |
| Knobloch syndrome, type 1 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2; Osteogenesis imperfecta, type IV; imperfecta, type III; Osteogenesis imperfecta, type II; {Osteoporosis, postmenopausal}; Ehlers-Danlos syndrome, cardiac valvular type |
| Fibrosis of extraocular muscles, congenital, 5 |
| ?Steel syndrome |
| Alport syndrome, autosomal recessive; Hematuria, benign familial; Alport syndrome, autosomal dominant |
| Alport syndrome, autosomal recessive; Hematuria, familial benign |
| ?Deafness, X-linked 6 |
| Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 |
| Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; ?Myosclerosis, congenital |
| Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 |
| Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa, pretibial; EBD, Bart type; EBD, localisata variant; Transient bullous of the newborn; Epidermolysis bullosa pruriginosa; Toenail dystrophy, isolated; EBD inversa |
| Epiphyseal dysplasia, multiple, 2; ?Stickler syndrome, type V |
| 3MC syndrome 2 |
| Myasthenic syndrome, congenital, 5 |
| Coenzyme Q10 deficiency, primary, 1; {Multiple system atrophy, susceptibility to} |
| Coenzyme Q10 deficiency, primary, 7 |
| Coenzyme Q10 deficiency, primary, 6 |
| ?Coenzyme Q10 deficiency, primary, 8 |
| Coenzyme Q10 deficiency, primary, 5 |
| Immunodeficiency 8 |
| Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiency |
| ?Mitochondrial complex IV deficiency |
| Leigh syndrome due to cytochrome c oxidase deficiency); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| Mitochondrial complex IV deficiency |
| Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
| Charcot-Marie-Tooth disease, recessive intermediate D |
| Mitochondrial complex IV deficiency |
| ?Mitochondrial complex IV deficiency |
| [Hypoceruloplasminemia, hereditary]; Cerebellar ataxia; Hemosiderosis, systemic, due to aceruloplasminemia |
| Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 |
| Anterior segment dysgenesis 8 |
| – |
| Carboxypeptidase N deficiency |
| Carbamoylphosphate synthetase I deficiency; {Pulmonary hypertension, neonatal, susceptibility to}; {Venoocclusive disease after bone marrow transplantation} |
| CPT deficiency, hepatic, type IA |
| CPT II deficiency, myopathic, stress-induced; CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; {Encephalopathy, acute, infection-induced, 4, susceptibility to} |
| {Systemic lupus erythematosus, susceptibility to, 9}; Immunodeficiency, common variable, 7 |
| Mental retardation, autosomal recessive 34, with variant lissencephaly |
| ?Carnitine acetyltransferase deficiency |
| Retinitis pigmentosa-12, autosomal recessive; Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy |
| Focal segmental glomerulosclerosis 9; Ventriculomegaly with cystic kidney disease |
| Mental retardation, autosomal recessive 2 |
| Short stature with microcephaly and distinctive facies |
| Cold-induced sweating syndrome 1 |
| Osteogenesis imperfecta, type VII |
| Cataract 9, multiple types |
| Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cardiomyopathy, dilated, 1II |
| Cataract 17, multiple types |
| Cataract 22 |
| Surfactant metabolism dysfunction, pulmonary, 5 |
| Neutropenia, severe congenital, 7, autosomal recessive |
| Joubert syndrome 21 |
| Peeling skin syndrome 4 |
| Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) |
| Cerebroretinal microangiopathy with calcifications and cysts |
| Congenital cataracts, facial dysmorphism, and neuropathy |
| Cystathioninuria; Homocysteine, total plasma, elevated |
| Mental retardation, autosomal dominant 19; Colorectal cancer, somatic; Pilomatricoma, somatic; Ovarian cancer, somatic; Hepatocellular carcinoma, somatic; Medulloblastoma, somatic; Exudative vitreoretinopathy 7 |
| Cystinosis, nephropathic; Cystinosis, ocular nonnephropathic; Cystinosis, late-onset juvenile or adolescent nephropathic; Cystinosis, atypical nephropathic |
| Immunodeficiency 24 |
| Galactosialidosis |
| Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontitis 1, juvenile |
| Ceroid lipofuscinosis, neuronal, 10 |
| Ceroid lipofuscinosis, neuronal, 13, Kufs type |
| Pycnodysostosis |
| Megaloblastic anemia-1, Finnish type |
| Mental retardation, X-linked, syndromic 15 (Cabezas type) |
| 3-M syndrome 1 |
| Spinocerebellar ataxia, autosomal recessive 17 |
| ?Methemoglobinemia, type IV |
| Methemoglobinemia, type I; Methemoglobinemia, type II |
| Chronic granulomatous disease, autosomal, due to deficiency of CYBA |
| Chronic granulomatous disease, X-linked; Immunodeficiency 34, mycobacteriosis, X-linked |
| Mitochondrial complex III deficiency, nuclear type 6 |
| Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable |
| Hypoaldosteronism, congenital, due to CMO II deficiency; Hypoaldosteronism, congenital, due to CMO I deficiency; {Low renin hypertension, susceptibility to}; Aldosterone to renin ratio raised |
| 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; Anterior segment dysgenesis 6, multiple subtypes |
| Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
| Hypercalcemia, infantile |
| Focal facial dermal dysplasia 4 |
| Cerebrotendinous xanthomatosis |
| Vitamin D-dependent rickets, type I |
| Coumarin resistance; {Nicotine addiction, protection from}; {Lung cancer, resistance to} |
| Clopidogrel, impaired responsiveness to; Mephenytoin poor metabolizer; Omeprazole poor metabolizer; Proguanil poor metabolizer |
| {Debrisoquine sensitivity}; {Codeine sensitivity} |
| Rickets due to defect in vitamin D 25-hydroxylation |
| Spastic paraplegia 56, autosomal recessive |
| Ichthyosis, congenital, autosomal recessive 5 |
| Bietti crystalline corneoretinal dystrophy |
| Bile acid synthesis defect, congenital, 3; Spastic paraplegia 5A, autosomal recessive |
| D-2-hydroxyglutaric aciduria |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 |
| Hypomyelination with brainstem and spinal cord involvement and leg spasticity |
| Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
| [Dopamine-beta-hydroxylase activity levels, plasma]; Dopamine beta-hydroxylase deficiency |
| Maple syrup urine disease, type II |
| Woodhouse-Sakati syndrome |
| Mirror movements 1 and/or agenesis of the corpus callosum; Gaze palsy, familial horizontal, with progressive scoliosis, 2; Colorectal cancer, somatic; Esophageal carcinoma, somatic |
| Nephronophthisis 19; ?Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal |
| Van Maldergem syndrome 1; Mitral valve prolapse 2 |
| Severe combined immunodeficiency, Athabascan type; Omenn syndrome |
| Al-Raqad syndrome |
| Neuropathy, distal hereditary motor, type VIIB; {Amyotrophic lateral sclerosis, susceptibility to}; Perry syndrome |
| [Pentosuria], 260800 |
| Xeroderma pigmentosum, group E, DDB-negative subtype |
| Aromatic L-amino acid decarboxylase deficiency |
| Spastic paraplegia 28, autosomal recessive |
| Spastic paraplegia 54, autosomal recessive |
| ?Congenital disorder of glycosylation, type Ir |
| Spondylometaepiphyseal dysplasia, short limb-hand type |
| Spondyloepimetaphyseal dysplasia, Shohat type |
| Warsaw breakage syndrome |
| Mental retardation, X-linked 102 |
| Orofaciodigital syndrome V |
| Mental retardation, autosomal dominant 24; ?Dyskinesia, seizures, and intellectual developmental disorder |
| Epileptic encephalopathy, early infantile, 49 |
| Myopathy, myofibrillar, 1; Cardiomyopathy, dilated, 1I; Scapuloperoneal syndrome, neurogenic, Kaeser type; ?Muscular dystrophy, limb-girdle, type 2R |
| Deafness, autosomal recessive 59 |
| ?Diarrhea 7 |
| Nephrotic syndrome, type 7; {Hemolytic uremic syndrome, atypical, susceptibility to, 7} |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic |
| Desmosterolosis |
| Smith-Lemli-Opitz syndrome |
| Retinitis pigmentosa 59; Developmental delay and seizures with or without movement abnormalities; ?Congenital disorder of glycosylation, type 1bb |
| Megaloblastic anemia due to dihydrofolate reductase deficiency |
| 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 46XY sex reversal 7 |
| Miller syndrome |
| 2-aminoadipic 2-oxoadipic aciduria; ?Charcot-Marie-Tooth disease, axonal, type 2Q |
| Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome |
| Perlman syndrome |
| Dyskeratosis congenita, X-linked |
| Pyruvate dehydrogenase E2 deficiency |
| Dihydrolipoamide dehydrogenase deficiency |
| Lung cancer; Esophageal cancer |
| Mental retardation, X-linked 90 |
| Spondylocostal dysostosis 1, autosomal recessive |
| ?Split-hand/foot malformation 1 with sensorineural hearing loss |
| Duchenne muscular dystrophy; Becker muscular dystrophy; Cardiomyopathy, dilated, 3B |
| Dimethylglycine dehydrogenase deficiency |
| Hypophosphatemic rickets, AR |
| ?Polyendocrine-polyneuropathy syndrome; ?Deafness, autosomal dominant 71 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; ?Seckel syndrome 8 |
| Ciliary dyskinesia, primary, 13 |
| Ciliary dyskinesia, primary, 2 |
| Ciliary dyskinesia, primary, 18 |
| Spermatogenic failure 18; ?Ciliary dyskinesia, primary, 37 |
| Ciliary dyskinesia, primary, 7, with or without situs inversus |
| Ciliary dyskinesia, primary, 1, with or without situs inversus |
| Ciliary dyskinesia, primary, 34 |
| Spinal muscular atrophy, distal, autosomal recessive, 5 |
| Hyperphenylalaninemia, mild, non-BH4-deficient |
| 3-methylglutaconic aciduria, type V |
| Bone marrow failure syndrome 3 |
| ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
| Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset |
| Ciliary dyskinesia, primary, 16 |
| ?Mirror movements 3 |
| Systemic lupus erythematosus 16 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5 |
| Charcot-Marie-Tooth disease, dominant intermediate B; Centronuclear myopathy 1; Charcot-Marie-Tooth disease, axonal type 2M; Lethal congenital contracture syndrome 5 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| Immunodeficiency 40 |
| Adams-Oliver syndrome 2 |
| Epileptic encephalopathy, early infantile, 23 |
| Hyper-IgE recurrent infection syndrome, autosomal recessive |
| Myasthenic syndrome, congenital, 10; ?Fetal akinesia deformation sequence |
| Congenital disorder of glycosylation, type Im |
| Congenital disorder of glycosylation, type Ij, 608093 (3); Myasthenic syndrome, congenital, 13, with tubular aggregate |
| Developmental delay with short stature, dysmorphic features, and sparse hair |
| Congenital disorder of glycosylation, type Ie |
| Congenital disorder of glycosylation, type Iu |
| Spermatogenic failure 9 |
| Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity |
| Dihydropyrimidinuria |
| Cone-rod dystrophy 21 |
| Ciliary dyskinesia, primary, 21 |
| Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair |
| ?Hypotrichosis and recurrent skin vesicles |
| Ehlers-Danlos syndrome, musculocontractural type 2 |
| Keratosis palmoplantaris striata I, AD; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE |
| Hypotrichosis 6 |
| Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Skin fragility-woolly hair syndrome; Epidermolysis bullosa, lethal acantholytic; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis |
| ?Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 |
| Congenital anomalies of kidney and urinary tract 1; Spastic paraplegia 23 |
| Hermansky-Pudlak syndrome 7 |
| Thyroid dyshormonogenesis 6 |
| Thyroid dyshormonogenesis 5 |
| Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia |
| Short-rib thoracic dysplasia 3 with or without polydactyly |
| Short-rib thoracic dysplasia 15 with polydactyly |
| Muscular dystrophy, limb-girdle, type 2B; Myopathy, distal, with anterior tibial onset; Miyoshi muscular dystrophy 1 |
| Ciliary dyskinesia, primary, 25; {Dyslexia, susceptibility to, 1} |
| Combined oxidative phosphorylation deficiency 12 |
| Chondrodysplasia punctata, X-linked dominant; MEND syndrome |
| Arthrogryposis, distal, type 5D |
| Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| Urbach-Wiethe disease |
| Ectodermal dysplasia 1, hypohidrotic, X-linked; Tooth agenesis, selective, X-linked 1 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; [Hair morphology 1, hair thickness] |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
| ?Mental retardation, autosomal recessive 50 |
| Auriculocondylar syndrome 3; Question mark ears, isolated; {High density lipoprotein cholesterol level QTL 7} |
| Waardenburg syndrome, type 4B; Central hypoventilation syndrome, congenital; {Hirschsprung disease, susceptibility to, 4 |
| {Hirschsprung disease, susceptibility to, 2}; ABCD syndrome; Waardenburg syndrome, type 4A |
| Cutis laxa, autosomal recessive, type IB |
| Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; {Nonsmall cell lung cancer, susceptibility to}; ?Inflammatory skin and bowel disease, neonatal, 2 |
| Neuropathy, congenital hypomyelinating, 1; Charcot-Marie-Tooth disease, type 1D; Dejerine-Sottas disease |
| Wolcott-Rallison syndrome |
| Pulmonary venoocclusive disease 2 |
| Leukoencephalopathy with vanishing white matter |
| Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy |
| Leukoencephalopathy with vanishing white matter |
| Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy |
| Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy |
| MEHMO syndrome |
| Robin sequence with cleft mandible and limb anomalies |
| {Prostate cancer, hereditary, 2, susceptibility to}; Combined oxidative phosphorylation deficiency 17 |
| Vascular malformation, primary intraosseous |
| ?Deafness, autosomal recessive 88 |
| Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation; Spinocerebellar ataxia 34 |
| Mental retardation, autosomal recessive 58 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation |
| Emery-Dreifuss muscular dystrophy 1, X-linked |
| Bowen-Conradi syndrome |
| Band heterotopia |
| Nephrotic syndrome, type 10 |
| Amelogenesis imperfecta, type IB; Amelogenesis imperfecta, type IC |
| ?Glycogen storage disease XIII |
| {Diabetes mellitus, non-insulin-dependent, susceptibility to}; {Obesity, susceptibility to}; Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease |
| Spastic paraplegia 64, autosomal recessive |
| Adams-Oliver syndrome 4 |
| Elliptocytosis-1 |
| Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 |
| Vici syndrome |
| Epilepsy, progressive myoclonic 2A (Lafora) |
| {Microvascular complications of diabetes 2} |
| ?Deafness, autosomal recessive 102 |
| Deafness autosomal recessive 106 |
| [Eosinophil peroxidase deficiency] |
| Adenocarcinoma of lung, somatic; Glioblastoma, somatic; Gastric cancer, somatic; Ovarian cancer, somatic |
| Lethal congenital contractural syndrome 2 |
| Cerebrooculofacioskeletal syndrome 4 |
| Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; ?Cerebrooculofacioskeletal syndrome 2 |
| Xeroderma pigmentosum, group B; Trichothiodystrophy 2, photosensitive |
| Xeroderma pigmentosum, group F; ?XFE progeroid syndrome; Fanconi anemia, complementation group Q; Xeroderma pigmentosum, type F/Cockayne syndrome |
| Xeroderma pigmentosum, group G; Xeroderma pigmentosum, group G/Cockayne syndrome; Cerebrooculofacioskeletal syndrome 3 |
| Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome 1; De Sanctis-Cacchione syndrome; {Macular degeneration, age-related, susceptibility to, 5}; UV-sensitive syndrome 1; {Lung cancer, susceptibility to}; Premature ovarian failure 11 |
| Bone marrow failure syndrome 2 |
| Cockayne syndrome, type A; UV-sensitive syndrome 2 |
| Spastic paraplegia 62 |
| Spastic paraplegia 18, autosomal recessive |
| Roberts syndrome; SC phocomelia syndrome |
| Deafness, autosomal recessive 36; Deafness, neurosensory, without vestibular involvement, autosomal dominant |
| Estrogen resistance; {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}; {Breast cancer} |
| Deafness, autosomal recessive 35 |
| Glutaric acidemia IIA |
| Glutaric acidemia IIB |
| Glutaric acidemia IIC |
| Ethylmalonic encephalopathy |
| Ellis-van Creveld syndrome; ?Weyers acrofacial dysostosis |
| Ellis-van Creveld syndrome; ?Weyers acrofacial dysostosis |
| Short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
| Pontocerebellar hypoplasia, type 1B |
| Pontocerebellar hypoplasia, type 1C |
| Epidermolysis bullosa, nonspecific, autosomal recessive |
| Exostoses, multiple, type 1; Chondrosarcoma |
| Exostoses, multiple, type 2; ?Seizures, scoliosis, and macrocephaly syndrome |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities |
| Retinitis pigmentosa 25 |
| Factor X deficiency |
| Factor XII deficiency; Angioedema, hereditary, type III |
| Factor XIIIA deficiency; {Myocardial infarction, protection against}; {Venous thrombosis, protection against} |
| Factor XIIIB deficiency |
| Hypoprothrombinemia; Dysprothrombinemia; Thrombophilia due to thrombin defect; {Stroke, ischemic, susceptibility to}; {Pregnancy loss, recurrent, susceptibility to, 2} |
| Factor V deficiency; {Thrombophilia, susceptibility to, due to factor V Leiden}; {Stroke, ischemic, susceptibility to}; {Budd-Chiari syndrome}; Thrombophilia due to activated protein C resistance; {Pregnancy loss, recurrent, susceptibility to, 1} |
| Factor VII deficiency; {Myocardial infarction, decreased susceptibility to} |
| Hemophilia A |
| Hemophilia B; {Warfarin sensitivity}; Thrombophilia, X-linked, due to factor IX defect; {Deep venous thrombosis, protection against} |
| Spastic paraplegia 35, autosomal recessive |
| Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations |
| Tyrosinemia, type I |
| Leukodystrophy, hypomyelinating, 5 |
| Neuropathy, hereditary sensory and autonomic, type IIB |
| Amelogenesis imperfecta, type IG (enamel-renal syndrome) |
| Raine syndrome |
| ?Deafness, autosomal recessive 104 |
| Interstitial nephritis, karyomegalic |
| Fanconi anemia, complementation group A |
| Fanconi anemia, complementation group B |
| Fanconi anemia, complementation group C |
| Fanconi anemia, complementation group D2 |
| Fanconi anemia, complementation group E |
| Fanconi anemia, complementation group I |
| Fanconi anemia, complementation group L |
| Peroxisomal fatty acyl-CoA reductase 1 disorder |
| Combined oxidative phosphorylation deficiency 14 Spastic paraplegia 77, autosomal recessive |
| Autoimmune lymphoproliferative syndrome, type IB; {Lung cancer, susceptibility to} |
| ?Mitochondrial complex IV deficiency |
| Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 |
| Cutis laxa, autosomal recessive, type IA; Cutis laxa, autosomal dominant 2; Macular degeneration, age-related, 3; Neuropathy, hereditary, with or without age-related macular degeneration |
| Fructose-1,6-bisphosphatase deficiency |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
| ?Mental retardation, autosomal recessive 45 |
| Parkinson disease 15, autosomal recessive |
| {Lupus nephritis, susceptibility to}; {Malaria, severe, susceptibility to}; {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis} |
| Immunodeficiency 20 |
| Immunodeficiency due to ficolin 3 deficiency |
| Protoporphyria, erythropoietic, autosomal recessive |
| Kindler syndrome |
| Leukocyte adhesion deficiency, type III |
| Hypogonadotropic hypogonadism 22, with or without anosmia |
| Dysfibrinogenemia, congenital; Hypodysfibrinogenemia, congenital; Amyloidosis, familial visceral; Afibrinogenemia, congenital |
| Dysfibrinogenemia, congenital; Afibrinogenemia, congenital; Hypofibrinogenemia, congenital |
| Aarskog-Scott syndrome; Mental retardation, X-linked syndromic 16 |
| Charcot-Marie-Tooth disease, type 4H |
| Metacarpal 4-5 fusion |
| ?Renal hypodysplasia/aplasia 2 |
| Deafness, congenital with inner ear agenesis, microtia, and microdontia |
| Trichomegaly |
| Achondroplasia; Hypochondroplasia; Thanatophoric dysplasia, type I; Crouzon syndrome with acanthosis nigricans; Muenke syndrome; Bladder cancer, somatic; Colorectal cancer, somatic; Cervical cancer, somatic; LADD syndrome; CATSHL syndrome; Nevus, epidermal, somatic; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; SADDAN |
| Dysfibrinogenemia, congenital; Hypofibrinogenemia, congenital Afibrinogenemia, congenital; Hypodysfibrinogenemia |
| Fumarase deficiency; Leiomyomatosis and renal cell cancer |
| Hemophagocytic lymphohistiocytosis, familial; Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset; Reducing body myopathy, X-linked 1b, with late childhood or adult onset; Emery-Dreifuss muscular dystrophy 6, X-linked; ?Uruguay faciocardiomusculoskeletal syndrome |
| Thauvin-Robinet-Faivre syndrome |
| Charcot-Marie-Tooth disease, type 4J; Amyotrophic lateral sclerosis 11; Yunis-Varon syndrome; ?Polymicrogyria, bilateral temporooccipital |
| Osteogenesis imperfecta, type XI; Bruck syndrome 1 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; Cardiomyopathy, dilated, 1X; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 |
| Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
| Bleeding disorder, platelet-type, 21 |
| Heterotopia, periventricular; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Intestinal pseudoobstruction, neuronal; Melnick-Needles syndrome; Frontometaphyseal dysplasia 1; FG syndrome 2; Cardiac valvular dysplasia, X-linked; Terminal osseous dysplasia; Congenital short bowel syndrome |
| Spondylocarpotarsal synostosis syndrome; Larsen syndrome; Atelosteogenesis, type I; Atelosteogenesis, type II; Boomerang dysplasia |
| Ataxia, posterior column, with retinitis pigmentosa |
| Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
| Mental retardation, autosomal recessive 47 |
| Trimethylaminuria |
| Neurodegeneration due to cerebral folate transport deficiency |
| Bamforth-Lazarus syndrome; {Thyroid cancer, nonmedullary, 4} |
| Anterior segment dysgenesis 2, multiple subtypes; Cataract 34, multiple types; {Aortic aneurysm, familial thoracic 11, susceptibility to} |
| Enlarged vestibular aqueduct |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| Rhabdomyosarcoma, alveolar |
| Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; {Diabetes mellitus, type I, susceptibility to} |
| Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency |
| Fraser syndrome 1 |
| Bifid nose with or without anorectal and renal anomalies; Manitoba oculotrichoanal syndrome; Trigonocephaly 2 |
| Fraser syndrome 2 |
| ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia |
| Mental retardation, X-linked 104 |
| Epileptic encephalopathy, early infantile, 37 |
| Hypogonadotropic hypogonadism 24 without anosmia |
| Ovarian dysgenesis 1; Ovarian response to FSH stimulation; Ovarian hyperstimulation syndrome |
| Glutamate formiminotransferase deficiency |
| Hyperferritinemia-cataract syndrome; Neurodegeneration with brain iron accumulation 3; L-ferritin deficiency, dominant and recessive |
| Growth retardation, developmental delay, facial dysmorphism; {Obesity, susceptibility to, BMIQ14} |
| Mental retardation, X-linked 9/44 |
| Fucosidosis |
| [Bombay phenotype] |
| – |
| Friedreich ataxia; Friedreich ataxia with retained reflexes |
| Thrombocytopenia 3 |
| Cataract 18, autosomal recessive |
| Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) |
| Glycogen storage disease Ia |
| Neutropenia, severe congenital 4, autosomal recessive; Dursun syndrome |
| Glycogen storage disease II |
| – |
| ?Cerebral palsy, spastic quadriplegic, 1 |
| Krabbe disease |
| Galactose epimerase deficiency |
| Galactokinase deficiency with cataracts |
| Mucopolysaccharidosis IVA |
| Tumoral calcinosis, hyperphosphatemic, familial |
| Galactosemia |
| Cerebral creatine deficiency syndrome 2 |
| Giant axonal neuropathy-1 |
| Ciliary dyskinesia, primary, 33 |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3); Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities |
| – |
| ?Cardiomyopathy, dilated, 2B |
| Cerebral creatine deficiency syndrome 3 |
| Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC; Gaucher disease, perinatal lethal; {Parkinson disease, late-onset, susceptibility to}; {Lewy body dementia, susceptibility to} |
| Spastic paraplegia 46, autosomal recessive |
| Glycogen storage disease IV; Polyglucosan body disease, adult form |
| Glutaricaciduria, type I |
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B |
| MODY, type II; Diabetes mellitus, noninsulin-dependent, late onset; Hyperinsulinemic hypoglycemia, familial, 3; Diabetes mellitus, permanent neonatal |
| Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; {Myocardial infarction, susceptibility to} |
| [Blood group, Ii]; Cataract 13 with adult i phenotype; Adult i phenotype without cataract |
| Glycine encephalopathy |
| Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, recessive intermediate, A |
| Double-outlet right ventricle; Tetralogy of Fallot; Transposition of great arteries, dextro-looped 3; Right atrial isomerism |
| ?Acromesomelic dysplasia, Hunter-Thompson type; Brachydactyly, type C; Chondrodysplasia, Grebe type; Du Pan syndrome; Brachydactyly, type A2; Symphalangism, proximal, 1B; Multiple synostoses syndrome 2; {Osteoarthritis-5}; Brachydactyly, type A1, C |
| Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia with coloboma 6, digenic; Leber congenital amaurosis 17; Multiple synostoses syndrome 4 |
| – |
| – |
| Bleeding disorder, platelet-type, 17 |
| Combined oxidative phosphorylation deficiency 1 |
| Myasthenia, congenital, 12, with tubular aggregates |
| Vitamin K-dependent clotting factors, combined deficiency of, 1; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency |
| Growth hormone deficiency, isolated, type IA; Growth hormone deficiency, isolated, type IB; Growth hormone deficiency, isolated, type II; Kowarski syndrome |
| Laron dwarfism; {Hypercholesterolemia, familial, modifier of}; Increased responsiveness to growth hormone; Growth hormone insensitivity, partial |
| {Obesity, susceptibility to} |
| Growth hormone deficiency, isolated partial |
| Intrinsic factor deficiency |
| Deafness, autosomal recessive 15 |
| Oculodentodigital dysplasia; Syndactyly, type III; Hypoplastic left heart syndrome 1; Atrioventricular septal defect 3; Oculodentodigital dysplasia, autosomal recessive; Craniometaphyseal dysplasia, autosomal recessive; Erythrokeratodermia variabilis et progressiva 3; Palmoplantar keratoderma with congenital alopecia |
| Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3A; Vohwinkel syndrome; Keratoderma, palmoplantar, with deafness, Keratitis-ichthyosis-deafness syndrome; Hystrix-like ichthyosis with deafness; Bart-Pumphrey syndrome |
| Erythrokeratodermia variabilis et progressiva 1; Deafness, autosomal dominant 2B; Deafness, autosomal recessive; Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic, GJB2/GJB3 |
| Deafness, autosomal dominant 3B; Deafness, autosomal recessive 1B; Deafness, digenic GJB2/GJB6; Ectodermal dysplasia 2, Clouston type |
| Leukodystrophy, hypomyelinating, 2; Spastic paraplegia 44, autosomal recessive; Lymphedema, hereditary, IC |
| Glycerol kinase deficiency |
| GM1-gangliosidosis, type I; GM1-gangliosidosis, type II; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio) |
| Glycine encephalopathy |
| Lethal congenital contracture syndrome 11 |
| Lethal congenital contracture syndrome 1; Arthrogryposis, lethal, with anterior horn cell disease |
| Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polydactyly, preaxial, type IV; Polydactyly, postaxial, types A1 and B; {Hypothalamic hamartomas, somatic} |
| Diabetes mellitus, neonatal, with congenital hypothyroidism |
| Hyperekplexia, hereditary 1, autosomal dominant or recessive |
| Hyperekplexia 2, autosomal recessive |
| Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia |
| Glutamine deficiency, congenital |
| D-glyceric aciduria |
| GM2-gangliosidosis, AB variant |
| Alacrima, achalasia, and mental retardation syndrome |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 |
| Night blindness, congenital stationary, autosomal dominant 3; Night blindness, congenital stationary, type 1G |
| {Hypertension, essential, susceptibility to}; Night blindness, congenital stationary, type 1H |
| Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia |
| Sialuria; Nonaka myopathy |
| Glycine N-methyltransferase deficiency |
| Rhizomelic chondrodysplasia punctata, type 2 |
| Mucolipidosis III alpha/beta; Mucolipidosis II alpha/beta |
| Mucolipidosis III gamma |
| ?Hypogonadotropic hypogonadism 12 with or without anosmia |
| Hypogonadotropic hypogonadism 7 without anosmia |
| Mucopolysaccharidosis type IIID |
| Geroderma osteodysplasticum |
| Epilepsy, progressive myoclonic 6 |
| Bernard-Soulier syndrome, type A1 (recessive); {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}; Bernard-Soulier syndrome, type A2 (dominant); von Willebrand disease, platelet-type |
| Bernard-Soulier syndrome, type B; Giant platelet disorder, isolated |
| Bleeding disorder, platelet-type, 11 |
| Bernard-Soulier syndrome, type C |
| Simpson-Golabi-Behmel syndrome, type 1; Wilms tumor, somatic |
| Omodysplasia 1 |
| Hypertriglyceridemia, transient infantile |
| Molybdenum cofactor deficiency C |
| Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency |
| Hyperlipoproteinemia, type 1D |
| – |
| Night blindness, congenital stationary (complete), 1E, autosomal recessive |
| Amelogenesis imperfecta, hypomaturation type, IIA6 |
| ?Chorea, childhood-onset, with psychomotor retardation |
| Chudley-McCullough syndrome |
| Mental retardation, autosomal recessive 49 |
| Hemolytic anemia due to glutathione peroxidase deficiency |
| Spondylometaphyseal dysplasia, Sedaghatian type |
| Deafness, autosomal dominant 28; Ectodermal dysplasia/short stature syndrome |
| Hyperoxaluria, primary, type II |
| Mental retardation, X-linked 94 |
| Spinocerebellar ataxia, autosomal recessive 18 |
| Mental retardation, autosomal recessive, 6 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| Fraser syndrome 3 |
| Spinocerebellar ataxia, autosomal recessive 13; Spinocerebellar ataxia 44 |
| Night blindness, congenital stationary (complete), 1B, autosomal recessive |
| Frontotemporal lobar degeneration with ubiquitin-positive inclusions; Aphasia, primary progressive; Ceroid lipofuscinosis, neuronal, 11 |
| Deafness, autosomal recessive 25 |
| ?Deafness, autosomal recessive 101 |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities |
| Hemolytic anemia due to glutathione reductase deficiency |
| Hemolytic anemia due to glutathione synthetase deficiency; Glutathione synthetase deficiency |
| [Maleylacetoacetate isomerase deficiency] |
| Trichothiodystrophy 6, nonphotosensitive |
| – |
| Combined oxidative phosphorylation deficiency 23 |
| Moyamoya 6 with achalasia |
| Diarrhea 6; Meconium ileus |
| Leber congenital amaurosis 1; Cone-rod dystrophy 6; ?Central areolar choroidal dystrophy 1 |
| ?Epileptic encephalopathy, early infantile, 40 |
| Scurvy |
| Mucopolysaccharidosis VII |
| ?Glycogen storage disease XV; Polyglucosan body myopathy 2 |
| Glycogen storage disease 0, muscle |
| Glycogen storage disease 0, liver |
| Cortisone reductase deficiency 1 |
| Spastic paraplegia and psychomotor retardation with or without seizures |
| 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 |
| LCHAD deficiency; Trifunctional protein deficiency; HELLP syndrome, maternal, of pregnancy; Fatty liver, acute, of pregnancy |
| Trifunctional protein deficiency |
| [Histidinemia] |
| Hemochromatosis, type 2B |
| Usher syndrome type 3B; Charcot-Marie-Tooth disease, axonal, type 2W |
| ?Perrault syndrome 2 |
| Neutropenia, severe congenital 3, autosomal recessive |
| Sickle cell anemia; Thalassemias, beta-; Erythremias, beta-; Methemoglobinemias, beta- (3); Heinz body anemias, beta-; Thalassemia-beta, dominant inclusion-body; Hereditary persistence of fetal hemoglobin; Delta-beta thalassemia; {Malaria, resistance to} |
| Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation |
| Macrocephaly, dysmorphic facies, and psychomotor retardation |
| [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; [Skin/hair/eye pigmentation 1, blond/brown hair]; Mental retardation, autosomal recessive 38 |
| Spondylocostal dysostosis 4, autosomal recessive |
| Septooptic dysplasia; Pituitary hormone deficiency, combined, 5; Growth hormone deficiency with pituitary anomalies |
| Tay-Sachs disease; GM2-gangliosidosis, several forms; [Hex A pseudodeficiency] |
| Sandhoff disease, infantile, juvenile, and adult forms |
| Hemochromatosis; {Microvascular complications of diabetes 7; {Porphyria variegata, susceptibility to}; {Porphyria cutanea tarda, susceptibility to}; {Alzheimer disease, susceptibility to}; [Transferrin serum level QTL2] |
| Hemochromatosis, type 2A |
| Premature ovarian failure 9 |
| Alkaptonuria |
| Deafness, autosomal recessive 39 |
| Mucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73 |
| 3-hydroxyisobutryl-CoA hydrolase deficiency |
| Neuromyotonia and axonal neuropathy, autosomal recessive |
| Hemolytic anemia due to hexokinase deficiency; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79 |
| {Celiac disease, susceptibility to} |
| {Creutzfeldt-Jakob disease, variant, resistance to}; {Multiple sclerosis, susceptibility to, 1}; {Celiac disease, susceptibility to} |
| Holocarboxylase synthetase deficiency |
| HMG-CoA lyase deficiency |
| HMG-CoA synthase-2 deficiency |
| Oculoauricular syndrome |
| MODY, type III; {Diabetes mellitus, noninsulin-dependent, 2}; {Diabetes mellitus, insulin-dependent}; Hepatic adenoma, somatic; Renal cell carcinoma; Diabetes mellitus, insulin-dependent, 20 |
| {Asthma, susceptibility to}; Mental retardation, autosomal recessive 51 |
| ?Microtia, hearing impairment, and cleft palate (AR); ?Microtia with or without hearing impairment (AD) |
| Facial paresis, hereditary congenital, 3 |
| Ectodermal dysplasia 9, hair/nail type |
| Dystonia 2, torsion, autosomal recessive |
| Tyrosinemia, type III; Hawkinsinuria |
| Cranioosteoarthropathy; Hypertrophic osteoarthropathy, primary, autosomal recessive 1; Digital clubbing, isolated congenital |
| Lesch-Nyhan syndrome; HPRT-related gout |
| Hermansky-Pudlak syndrome 1 |
| Hermansky-Pudlak syndrome 3 |
| Hermansky-Pudlak syndrome 4 |
| Hermansky-Pudlak syndrome 5 |
| Hermansky-Pudlak syndrome 6 |
| Urofacial syndrome 1 |
| Alopecia universalis; Atrichia with papular lesions; Hypotrichosis 4 |
| Apparent mineralocorticoid excess |
| Pseudohermaphroditism, male, with gynecomastia |
| D-bifunctional protein deficiency; Perrault syndrome 1 |
| Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
| Bile acid synthesis defect, congenital, 1 |
| Anemia, sideroblastic, 4; Even-plus syndrome |
| Spastic paraplegia 13, autosomal dominant; Leukodystrophy, hypomyelinating, 4 |
| Schwartz-Jampel syndrome, type 1; Dyssegmental dysplasia, Silverman-Handmaker type |
| {Macular degeneration, age-related, 7}; {Macular degeneration, age-related, neovascular type}; CARASIL syndrome; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 |
| {Parkinson disease 13}, 610297 (3); 3-methylglutaconic aciduria, type VIII |
| Huntington disease, 143100 (3); Lopes-Maciel-Rodan syndrome |
| ?Mucopolysaccharidosis type IX |
| Ciliary dyskinesia, primary, 5 |
| Hydrolethalus syndrome |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy |
| ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
| ?Multiple mitochondrial dysfunctions syndrome 3; ?Spastic paraplegia 74, autosomal recessive |
| Endocrine-cerebroosteodysplasia |
| Immunodeficiency, common variable, 1 |
| Mucopolysaccharidosis II |
| Mucopolysaccharidosis Ih; Mucopolysaccharidosis Is; Mucopolysaccharidosis Ih/s |
| Microcephaly, epilepsy, and diabetes syndrome |
| {Hepatitis B virus, susceptibility to}; ?Immunodeficiency 45 |
| Immunodeficiency 27A, mycobacteriosis, AR; {H. pylori infection, susceptibility to}; {Tuberculosis, susceptibility to}; Immunodeficiency 27B, mycobacteriosis, AD; {Tuberculosis infection, protection against}; {Hepatitis B virus infection, susceptibility to} |
| Immunodeficiency 28, mycobacteriosis |
| Cranioectodermal dysplasia 1 |
| Short-rib thoracic dysplasia 9 with or without polydactyly; Retinitis pigmentosa 80 |
| Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 |
| ?Bardet-Biedl syndrome 19 |
| ?Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; ?Retinitis pigmentosa 81 |
| Short-rib thoracic dysplasia 16 with or without polydactyly |
| ?Bardet-Biedl syndrome 20 |
| Short-rib thoracic dysplasia 2 with or without polydactyly |
| Short-rib thoracic dysplasia 19 with or without polydactyly 19 |
| Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia |
| Growth retardation with deafness and mental retardation due to IGF1 deficiency |
| Insulin-like growth factor I, resistance to |
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
| Agammaglobulinemia 1 |
| Neuronopathy, distal hereditary motor, type VI; Charcot-Marie-Tooth disease, axonal, type 2S |
| Kappa light chain deficiency |
| Agammaglobulinemia 2 |
| Hypothyroidism, central, and testicular enlargement |
| ?Lacrimal duct defect |
| Acrocapitofemoral dysplasia; Brachydactyly, type A1 |
| Dysautonomia, familial |
| Immunodeficiency 15 |
| Inflammatory bowel disease 28, early onset, autosomal recessive |
| Inflammatory bowel disease 25, early onset, autosomal recessive; {Hepatitis B virus, susceptibility to} |
| Craniosynostosis and dental anomalies |
| Immunodeficiency 29, mycobacteriosis |
| Immunodeficiency 30 |
| Immunodeficiency 51 |
| Candidiasis, familial, 9 |
| Hypogonadotropic hypogonadism 18 with or without anosmia |
| Mental retardation, X-linked 21/34 |
| {Gastric cancer risk after H. pylori infection}; {Microvascular complications of diabetes 4}; Interleukin 1 receptor antagonist deficiency |
| [IgE, elevated level of]; Immunodeficiency 56 |
| Immunodeficiency 41 with lymphoproliferation and autoimmunity; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10} |
| Severe combined immunodeficiency, X-linked; Combined immunodeficiency, X-linked, moderate |
| Psoriasis 14, pustula |
| Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type |
| Deafness, autosomal recessive 42 |
| Mental retardation, autosomal recessive 59 |
| Chondrodysplasia with joint dislocations, GPAPP type |
| Retinitis pigmentosa 56; Macular dystrophy, vitelliform, 5 |
| Squamous cell carcinoma, head and neck, somatic |
| Mental retardation, truncal obesity, retinal dystrophy, and micropenis; Joubert syndrome 1 |
| Muscular dystrophy, congenital, with cataracts and intellectual disability |
| Opsismodysplasia |
| Hyperproinsulinemia; Maturity-onset diabetes of the young, type 10; Diabetes mellitus, permanent neonatal; Diabetes mellitus, insulin-dependent, 2 |
| Leprechaunism; Rabson-Mendenhall syndrome; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5 |
| – |
| Nephronophthisis 2, infantile |
| Senior-Loken syndrome 5 |
| ?Polydactyly, postaxial, type A7, 617642 |
| Myelodysplastic syndrome, preleukemic; Myelogenous leukemia, acute; Gastric cancer, somatic; Nonsmall cell lung cancer, somatic |
| ?Immunodeficiency 39 |
| Immunodeficiency 32A, mycobacteriosis, autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive |
| Hamamy syndrome |
| Multiple mitochondrial dysfunctions syndrome 4 |
| Myopathy with lactic acidosis, hereditary |
| Immunodeficiency 38 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 |
| Autoimmune disease, multisystem, with facial dysmorphism |
| Glanzmann thrombasthenia; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Bleeding disorder, platelet-type, 16, autosomal dominant |
| Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
| Epidermolysis bullosa, junctional, with pyloric stenosis |
| Muscular dystrophy, congenital, due to ITGA7 deficiency |
| Renal hypodysplasia/aplasia 1 |
| Leukocyte adhesion deficiency |
| Glanzmann thrombasthenia; Thrombocytopenia, neonatal alloimmune; {Myocardial infarction, susceptibility to}; Purpura, posttransfusion; Bleeding disorder, platelet-type, 16, autosomal dominant |
| Epidermolysis bullosa, junctional, with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type; Epidermolysis bullosa of hands and feet |
| Amelogenesis imperfecta, type IH |
| Lymphoproliferative syndrome 1 |
| [Inosine triphosphatase deficiency]; Epileptic encephalopathy, early infantile, 35 |
| Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome |
| ?Anhidrosis, isolated, with normal sweat glands |
| {Diabetes, type 1, susceptibility to} |
| Isovaleric acidemia |
| Thyroid dyshormonogenesis 4 |
| Neutropenia, severe congenital, 6, autosomal recessive |
| Polycythemia vera, somatic; Thrombocythemia 3; Myelofibrosis, somatic; Erythrocytosis, somatic; Leukemia, acute myeloid, somatic; {Budd-Chiari syndrome, somatic} |
| SCID, autosomal recessive, T-negative/B-positive type |
| Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
| ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K |
| Naxos disease; Arrhythmogenic right ventricular dysplasia 12 |
| Palmoplantar keratoderma and woolly hair; Nephrotic syndrome 16 |
| ?Charcot-Marie-Tooth disease, recessive intermediate, B; Deafness, autosomal recessive 89 |
| Lissencephaly 6, with microcephaly |
| Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 |
| Bartter syndrome, type 2 |
| SESAME syndrome,; Enlarged vestibular aqueduct, digenic |
| Hyperinsulinemic hypoglycemia, familial, 2; Diabetes, permanent neonatal, with or without neurologic features; {Diabetes mellitus, type 2, susceptibility to}; Diabetes mellitus, transient neonatal, 3; Maturity-onset diabetes of the young, type 13 |
| Snowflake vitreoretinal degeneration; Leber congenital amaurosis 16 |
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; ?Cerebellar atrophy, developmental delay, and seizures |
| Long QT syndrome 1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome 2; {Long QT syndrome 1, acquired, susceptibility to} |
| Retinal cone dystrophy 3B |
| Epilepsy, progressive myoclonic 3, with or without intracellular inclusions |
| Mental retardation, X-linked, syndromic, Claes-Jensen type |
| Cornea plana 2, autosomal recessive |
| Hydatidiform mole, recurrent, 2 |
| [Fructosuria] |
| Joubert syndrome 26 |
| Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly |
| ?Orofaciodigital syndrome XV |
| Alkuraya-Kucinskas syndrome |
| ?Meckel syndrome 12 |
| Spastic paraplegia 30, autosomal recessive; Neuropathy, hereditary sensory, type IIC; Mental retardation, autosomal dominant 9 |
| Spastic ataxia 2, autosomal recessive |
| ?Mental retardation, X-linked 100 |
| ?Hydrolethalus syndrome 2; Acrocallosal syndrome; Joubert syndrome 12; ?Al-Gazali-Bakalinova syndrome |
| ?Hypogonadotropic hypogonadism 13 with or without anosmia |
| Hypogonadotropic hypogonadism 8 with or without anosmia; ?Precocious puberty, central, 1 |
| Retinitis pigmentosa 69 |
| Spastic paraplegia, optic atrophy, and neuropathy |
| {Hodgkin lymphoma, susceptibility to}] |
| Mental retardation, X-linked 103 |
| Pseudohypoaldosteronism, type IID |
| Nemaline myopathy 9 |
| Retinitis pigmentosa 42; Cold-induced sweating syndrome 3 |
| Amelogenesis imperfecta, type IIA1 |
| Fletcher factor (prekallikrein) deficiency |
| [Kininogen deficiency]; [High molecular weight kininogen deficiency] |
| Mental retardation, autosomal recessive 41 |
| Lung cancer, somatic; Bladder cancer, somatic; Pancreatic carcinoma, somatic; Gastric cancer, somatic; Leukemia, acute myeloid; Noonan syndrome 3; Cardiofaciocutaneous syndrome 2; Breast cancer, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; RAS-associated autoimmune leukoproliferative disorder; Arteriovenous malformation of the brain, somatic |
| Ectodermal dysplasia 13, hair/tooth type |
| Epidermolytic hyperkeratosis; Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Ichthyosis histrix, Curth-Macklin type; Palmoplantar keratoderma, nonepidermolytic; Palmoplantar keratoderma, epidermolytic; Keratosis palmoplantaris striata III |
| Epidermolytic hyperkeratosis; Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Ichthyosis with confetti |
| Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, recessive 1; Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex, Weber-Cockayne type |
| Cirrhosis, cryptogenic; {Cirrhosis, noncryptogenic, susceptibility to} |
| Woolly hair, autosomal recessive 3 |
| Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex-MP; Dowling-Degos disease 1; Epidermolysis bullosa simplex-MCR; Epidermolysis bullosa simplex, recessive 1 |
| Woolly hair, autosomal dominant; ?Hypotrichosis 3; ?Ectodermal dysplasia 7, hair/nail type |
| Cirrhosis, cryptogenic; {Cirrhosis, noncryptogenic, susceptibility to} |
| Monilethrix; Erythrokeratodermia variabilis et progressiva 5 |
| Ectodermal dysplasia 4, hair/nail type |
| Myopathy, myofibrillar, 7 |
| ?Hydroxykynureninuria; Vertebral, cardiac, renal, and limb defects syndrome 2 |
| Hydrocephalus due to aqueductal stenosis; MASA syndrome; CRASH syndrome; Hydrocephalus with Hirschsprung disease; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; Corpus callosum, partial agenesis of |
| L-2-hydroxyglutaric aciduria |
| Poretti-Boltshauser syndrome, 615960 (3) |
| Muscular dystrophy, congenital merosin-deficient, 607855 (3); Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3) |
| Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, generalized atrophic benign, 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3) |
| Lissencephaly 5 |
| Nephrotic syndrome, type 5, with or without ocular abnormalities; Pierson syndrome |
| Epidermolysis bullosa, junctional, Herlitz type; Epidermolysis bullosa, junctional, non-Herlitz type; Amelogenesis imperfecta, type IA |
| Epidermolysis bullosa, junctional, Herlitz type; Epidermolysis bullosa, junctional, non-Herlitz type |
| Cortical malformations, occipital |
| Immunodeficiency due to defect in MAPBP-interacting protein |
| Alazami syndrome |
| ?Infantile liver failure syndrome 1 |
| Perrault syndrome 4; ?Hydrops, lactic acidosis, and sideroblastic anemia |
| Wilson-Turner syndrome |
| Immunodeficiency 52 |
| Pelger-Huet anomaly; Greenberg skeletal dysplasia; ?Reynolds syndrome |
| Norum disease; Fish-eye disease |
| ?Immunodeficiency 22 |
| Lactase deficiency, congenital |
| Glycogen storage disease XI |
| Hypercholesterolemia, familial, autosomal recessive |
| Cataract 46, juvenile-onset |
| Obesity, morbid, due to leptin deficiency |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect |
| Hypogonadotropic hypogonadism 23 with or without anosmia |
| Precocious puberty, male; Leydig cell hypoplasia with pseudohermaphroditism; Leydig cell hypoplasia with hypergonadotropic hypogonadism; Luteinizing hormone resistance, female; Leydig cell adenoma, somatic, with precocious puberty |
| Deafness, autosomal recessive 67 |
| Pituitary hormone deficiency, combined, 3 |
| Hyperglycinemia, lactic acidosis, and seizures |
| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome |
| LIG4 syndrome; {Multiple myeloma, resistance to} |
| Cataract 19, multiple types |
| Muscular dystrophy, limb-girdle, type 2W |
| Mental retardation, autosomal recessive 27 |
| Wolman disease; Cholesteryl ester storage disease |
| [High density lipoprotein cholesterol level QTL 12]; {Diabetes mellitus, noninsulin-dependent}; Hepatic lipase deficiency |
| Lipodystrophy, familial partial, type 6 |
| Hypotrichosis 7; Woolly hair, autosomal recessive 2 with or without hypotrichosis |
| Ichthyosis, congenital, autosomal recessive 8 |
| Lipoyltransferase 1 deficiency |
| Combined factor V and VIII deficiency |
| ?Mental retardation, autosomal recessive, 52 |
| Acheiropody; Polydactyly, preaxial type II; Triphalangeal thumb, type I; Triphalangeal thumb-polysyndactyly syndrome; Syndactyly, type IV; Hypoplastic or aplastic tibia with polydactyly; Laurin-Sandrow syndrome |
| Methylmalonic aciduria and homocystinuria, cblF type |
| Lipase deficiency, combined |
| Emery-Dreifuss muscular dystrophy 2, AD; Cardiomyopathy, dilated, 1A; Lipodystrophy, familial partial, type 2; Emery-Dreifuss muscular dystrophy 3, AR; Charcot-Marie-Tooth disease, type 2B1; Muscular dystrophy, congenital; Muscular dystrophy, limb-girdle, type 1B; Mandibuloacral dysplasia; Hutchinson-Gilford progeria; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type; Malouf syndrome |
| {Lipodystrophy, partial, acquired, susceptibility to}; ?Epilepsy, progressive myoclonic, 9 |
| Nemaline myopathy 10 |
| CODAS syndrome |
| Deafness, autosomal recessive 77 |
| Hypotrichosis 8; Woolly hair, autosomal recessive 1, with or without hypotrichosis |
| Myoglobinuria, acute recurrent, autosomal recessive |
| Lipoprotein lipase deficiency; Combined hyperlipidemia, familial; [High density lipoprotein cholesterol level QTL 11] |
| Retinal dystrophy, early-onset severe; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile |
| Immunodeficiency, common variable, 8, with autoimmunity |
| Urofacial syndrome 2 |
| Night blindness, congenital stationary (complete), 1F, autosomal recessive |
| ?Keratosis pilaris atrophicans |
| Donnai-Barrow syndrome |
| Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; ?Myasthenic syndrome, congenital, 17 |
| Osteoporosis-pseudoglioma syndrome; [Bone mineral density variability 1]; Hyperostosis, endostea; van Buchem disease, type 2, 607636; Osteosclerosis; {Osteoporosis}; Exudative vitreoretinopathy 4; Osteopetrosis, autosomal dominant 1; Polycystic liver disease 4 with or without kidney cysts |
| Myopia 23, autosomal recessive |
| Leigh syndrome, French-Canadian type |
| Ciliary dyskinesia, primary, 19 |
| Charcot-Marie-Tooth disease, axonal, type 2P |
| Deafness, autosomal recessive 63 |
| Cataract 44 |
| Glaucoma 3, primary congenital, D; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; ?Weill-Marchesani syndrome 3, recessive |
| Dental anomalies and short stature; Geleophysic dysplasia 3 |
| Cutis laxa, autosomal recessive, type IC |
| Leukotriene C4 synthase deficiency |
| Mitochondrial complex III deficiency, nuclear type 8 |
| Chediak-Higashi syndrome |
| Bardet-Biedl syndrome 17 |
| Microphthalmia/coloboma and skeletal dysplasia syndrome |
| ?Fanconi anemia, complementation group V |
| Spastic paraplegia 75, autosomal recessive |
| Bartter syndrome, type 5, antenatal, transient |
| Nephrotic syndrome 15 |
| Retinitis pigmentosa 62 |
| Immunodeficiency 12 |
| Hypospadias 2, X-linked |
| Mental retardation, autosomal recessive 15 |
| Mannosidosis, alpha-, types I and II |
| Mannosidosis, beta |
| Brunner syndrome; {Antisocial behavior} |
| Lung cancer, somatic |
| Nephronophthisis 20 |
| Dementia, frontotemporal, with or without parkinsonism; Pick disease; Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical; {Parkinson disease, susceptibility to} |
| Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2U |
| Spastic ataxia 3, autosomal recessive; ?Combined oxidative phosphorylation deficiency 25 |
| Deafness, autosomal recessive 49 |
| 3MC syndrome 1 |
| MASP2 deficiency |
| Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; Methionine adenosyltransferase deficiency, autosomal recessive |
| Epiphyseal dysplasia, multiple, 5; {Osteoarthritis susceptibility 2}; ?Spondyloepimetaphyseal dysplasia |
| Mental retardation, autosomal recessive 57 |
| IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3); ?Olmsted syndrome, X-linked |
| [Skin/hair/eye pigmentation 2, red hair/fair skin]; [Skin/hair/eye pigmentation 2, blond hair/fair skin]; [Analgesia from kappa-opioid receptor agonist, female-specific]; {UV-induced skin damage}; {Albinism, oculocutaneous, type II, modifier of}; {Melanoma, cutaneous malignant, 5} |
| Glucocorticoid deficiency, due to ACTH unresponsiveness |
| Obesity, autosomal dominant |
| 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
| Methylmalonyl-CoA epimerase deficiency |
| Immunodeficiency 54 |
| ?Meier-Gorlin syndrome 8 |
| ?Premature ovarian failure 10 |
| Ovarian dysgenesis 4 |
| Mucolipidosis IV |
| Microcephaly 1, primary, autosomal recessive |
| Epileptic encephalopathy, early infantile, 51 |
| Rett syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome, preserved speech variant; Encephalopathy, neonatal severe; {Autism susceptibility, X-linked 3}; Mental retardation, X-linked syndromic, Lubs type; Rett syndrome, atypical |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| Opitz-Kaveggia syndrome; Lujan-Fryns syndrome; Ohdo syndrome, X-linked |
| Microcephaly, postnatal progressive, with seizures and brain atrophy |
| Mental retardation, autosomal recessive 18 |
| ?Charcot-Marie-Tooth disease, type 2B2; Basel-Vanagait-Smirin-Yosef syndrome |
| Familial Mediterranean fever, AR; Familial Mediterranean fever, AD |
| Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant |
| Carpenter syndrome 2 |
| Klippel-Feil syndrome 2 |
| Retinitis pigmentosa 38 |
| Renal cell carcinoma, papillary, 1, familial and somatic; Hepatocellular carcinoma, childhood type, somatic; ?Deafness, autosomal recessive 97; {Osteofibrous dysplasia, susceptibility to} |
| Mental retardation, autosomal recessive 44 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| Charcot-Marie-Tooth disease, axonal, type 2A2A; Hereditary motor and sensory neuropathy VIA; Charcot-Marie-Tooth disease, axonal, type 2A2B |
| Microphthalmia, isolated 5; Nanophthalmos 2 |
| Microcephaly 15, primary, autosomal recessive |
| Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement |
| Congenital disorder of glycosylation, type Iia |
| Mitochondrial DNA depletion syndrome 11 |
| Keutel syndrome |
| Myopathy with extrapyramidal signs |
| Opitz GBBB syndrome, type I |
| ?Mental retardation, X-linked 101 |
| Combined oxidative phosphorylation deficiency 31 |
| Waardenburg syndrome, type 2A; Waardenburg syndrome/ocular albinism, digenic; Tietz albinism-deafness syndrome; {Melanoma, cutaneous malignant, susceptibility to, 8}; COMMAD syndrome |
| McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 |
| Meckel syndrome 1; Bardet-Biedl syndrome 13; Joubert syndrome 28 |
| Megalencephalic leukoencephalopathy with subcortical cysts |
| Colorectal cancer, hereditary nonpolyposis, type 2; Mismatch repair cancer syndrome; Muir-Torre syndrome |
| Griscelli syndrome, type 3 |
| Malonyl-CoA decarboxylase deficiency |
| Methylmalonic aciduria, vitamin B12-responsive |
| Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type |
| Methylmalonic aciduria and homocystinuria, cblC type |
| Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2 |
| Charcot-Marie-Tooth disease, axonal, type 2T; ?Spinocerebellar ataxia 43 |
| COPD, rate of decline of lung function in; {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of} |
| Spondyloepimetaphyseal dysplasia, Missouri type; Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type |
| Multicentric osteolysis, nodulosis, and arthropathy |
| Amelogenesis imperfecta, type IIA2 |
| Heterotaxy, visceral, 7, autosomal |
| Xanthinuria, type II |
| Molybdenum cofactor deficiency A |
| Molybdenum cofactor deficiency B |
| Congenital disorder of glycosylation, type Iib |
| Mitochondrial pyruvate carrier deficiency |
| Congenital disorder of glycosylation, type If |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| Congenital disorder of glycosylation, type Ib |
| Thrombocytopenia, congenital amegakaryocytic; Thrombocythemia 2; Myelofibrosis with myeloid metaplasia, somatic |
| Trichothiodystrophy 4, nonphotosensitive |
| Myeloperoxidase deficiency; {Alzheimer disease, susceptibility to}; {Lung cancer, protection against, in smokers} |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) |
| Charcot-Marie-Tooth disease, type 1B; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating; Charcot-Marie-Tooth disease, type 2J; Roussy-Levy syndrome; Charcot-Marie-Tooth disease, type 2I; Charcot-Marie-Tooth disease, dominant intermediate D |
| Glucocorticoid deficiency 2 |
| Combined oxidative phosphorylation deficiency 9 |
| ?Combined oxidative phosphorylation deficiency 16 |
| Combined oxidative phosphorylation deficiency 2 |
| – |
| Combined oxidative phosphorylation deficiency 5 |
| Combined oxidative phosphorylation deficiency 32 |
| ?Combined oxidative phosphorylation deficiency 34 |
| Immunodeficiency, common variable, 5 |
| Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome; Mismatch repair cancer syndrome |
| Endometrial carcinoma, somatic; Familial adenomatous polyposis 4, |
| ?Premature ovarian failure 13 |
| Colorectal cancer, hereditary nonpolyposis, type 5; Endometrial cancer, familial; Mismatch repair cancer syndrome |
| Microcephaly, congenital cataract, and psoriasiform dermatitis |
| Immunodeficiency 50 |
| Deafness, autosomal recessive 74 |
| Combined oxidative phosphorylation deficiency 15 |
| {Neural tube defects, folate-sensitive, susceptibility to}; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| Homocystinuria due to MTHFR deficiency; {Schizophrenia, susceptibility to}; {Vascular disease, susceptibility to}; {Neural tube defects, susceptibility to}; {Thromboembolism, susceptibility to} |
| Myotubular myopathy, X-linked |
| Charcot-Marie-Tooth disease, type 4B1 |
| Combined oxidative phosphorylation deficiency 10 |
| ?Spastic ataxia 4, autosomal recessive |
| Homocystinuria-megaloblastic anemia, cblG complementation type; {Neural tube defects, folate-sensitive, susceptibility to} |
| Homocystinuria-megaloblastic anemia, cbl E type; {Neural tube defects, folate-sensitive, susceptibility to} |
| Abetalipoproteinemia; {Metabolic syndrome, protection against} |
| Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3); Fetal akinesia deformation sequence, 208150 (3) |
| Methylmalonic aciduria, mut(0) type |
| Adenomas, multiple colorectal; Gastric cancer, somatic; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
| Mevalonic aciduria; Hyper-IgD syndrome; Porokeratosis 3, multiple types |
| Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 |
| Proximal myopathy and ophthalmoplegia |
| Cardiomyopathy, hypertrophic, 1; Cardiomyopathy, dilated, 1S; Myopathy, myosin storage, autosomal dominant; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type; Left ventricular noncompaction 5; Myopathy, myosin storage, autosomal recessive |
| Cardiomyopathy, hypertrophic, 8 |
| Deafness, autosomal recessive 3 |
| Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism |
| Glomerulosclerosis, focal segmental, 6 |
| Deafness, autosomal recessive 30 |
| Griscelli syndrome, type 1 |
| Microvillus inclusion disease |
| Deafness, autosomal dominant 22; Deafness, autosomal recessive 37; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy |
| Usher syndrome, type 1B; Deafness, autosomal recessive 2; Deafness, autosomal dominant 11 |
| Cardiomyopathy, dilated, 1KK; Cardiomyopathy, hypertrophic, 22; Cardiomyopathy, familial restrictive, 4; Nemaline myopathy 11, autosomal recessive |
| Ogden syndrome, 300855 (3); ?Microphthalmia, syndromic 1 |
| ?2,4-dienoyl-CoA reductase deficiency |
| Schindler disease, type I; Kanzaki disease; Schindler disease, type III |
| Mucopolysaccharidosis type IIIB (Sanfilippo B); ?Charcot-Marie-Tooth disease, axonal, type 2V |
| N-acetylglutamate synthase deficiency |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| Spondyloepimetaphyseal dysplasia, Camera-Genevieve type |
| Combined oxidative phosphorylation deficiency 24 |
| [Acetylation, slow] |
| ?N-acetylaspartate deficiency |
| Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome 2 |
| Gray platelet syndrome |
| Nijmegen breakage syndrome; Aplastic anemia; Leukemia, acute lymphoblastic |
| – |
| – |
| – |
| Chronic granulomatous disease due to deficiency of NCF-2 |
| ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III |
| Lissencephaly 4 (with microcephaly); ?Microhydranencephaly |
| Norrie disease; Exudative vitreoretinopathy 2, X-linked |
| Charcot-Marie-Tooth disease, type 4D |
| Mental retardation, autosomal recessive 46 |
| Mitochondrial complex I deficiency |
| Leigh syndrome |
| Mitochondrial complex I deficiency |
| Leigh syndrome due to mitochondrial complex 1 deficiency |
| {Thyroid carcinoma, Hurthle cell} |
| Leigh syndrome due to mitochondrial complex I deficiency |
| Leigh syndrome due to mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency; Leigh syndrome |
| Mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency |
| Mitochondrial complex 1 deficiency |
| Leigh syndrome due to mitochondrial complex I deficiency |
| Linear skin defects with multiple congenital anomalies 3; ?Mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency |
| ?Mitochondrial complex I deficiency |
| Mitochondrial complex I deficienc |
| Mitochondrial complex I deficiency |
| Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency |
| Leigh syndrome; Mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency |
| Leigh syndrome |
| Leigh syndrome due to mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency |
| Mitochondrial complex I deficiency |
| Nemaline myopathy 2, autosomal recessive |
| ?Epileptic encephalopathy, early infantile, 21 |
| ?{Amyotrophic lateral sclerosis, susceptibility to}; Charcot-Marie-Tooth disease, axonal, type 2CC |
| Charcot-Marie-Tooth disease, type 2E; Charcot-Marie-Tooth disease, type 1F; Charcot-Marie-Tooth disease, dominant intermediate G |
| Short-rib thoracic dysplasia 6 with or without polydactyly; {Amyotrophic lateral sclerosis, susceptibility to, 24} |
| ?Retinitis pigmentosa 67 |
| ?Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 |
| Lethal congenital contracture syndrome 10; ?Arthrogryposis, Perthes disease, and upward gaze palsy; Nevus comedonicus, somatic |
| Sialidosis, type I, 256550 (3); Sialidosis, type II |
| Diarrhea 4, malabsorptive, congenital |
| Multiple mitochondrial dysfunctions syndrome 1 |
| Neuropathy, hereditary sensory and autonomic, type V |
| Congenital disorder of deglycosylation |
| Epilepsy, progressive myoclonic 2B (Lafora) |
| Dyskeratosis congenita, autosomal recessive 2 |
| ?Seckel syndrome 7 |
| Ichthyosis, congenital, autosomal recessive 6 |
| Spondylo-megaepiphyseal-metaphyseal dysplasia |
| {Vitiligo-associated multiple autoimmune disease susceptibility 1}; Palmoplantar carcinoma, multiple self-healing; Autoinflammation with arthritis and dyskeratosis |
| Hydatidiform mole, recurrent, 1 |
| Ciliary dyskinesia, primary, 6 |
| Leber congenital amaurosis 9 |
| Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency |
| Dyskeratosis congenita, autosomal recessive 1 |
| {Nasopharyngeal carcinoma 1}; Niemann-Pick disease, type C1; Niemann-Pick disease, type D |
| Niemann-pick disease, type C2 |
| Nephronophthisis 1, juvenile; Senior-Loken syndrome-1; Joubert syndrome 4 |
| Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7 |
| Nephronophthisis 4; Senior-Loken syndrome 4 |
| Nephrotic syndrome, type 1 |
| Nephrotic syndrome, type 2 |
| Atrial fibrillation, familial, 6; Atrial standstill 2 |
| Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, Miura type; Short stature with nonspecific skeletal abnormalities |
| Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive |
| Obesity, mild, early-onset |
| Cholestasis, progressive familial intrahepatic, 5 |
| Enhanced S-cone syndrome; Retinitis pigmentosa 37 |
| Pitt-Hopkins-like syndrome 2; {Schizophrenia, susceptibility to, 17} |
| CHILD syndrome; CK syndrome |
| Seckel syndrome 10 |
| Mental retardation, autosomal recessive 5 |
| Spastic paraplegia 45, autosomal recessive |
| Anemia, hemolytic, due to UMPH1 deficiency |
| Calcification of joints and arteries |
| Familial adenomatous polyposis 3 |
| Insensitivity to pain, congenital, with anhidrosis; Medullary thyroid carcinoma, familial |
| Mitochondrial complex I deficiency |
| Nephrotic syndrome, type 11 |
| ?Atrial fibrillation 15 |
| Striatonigral degeneration, infantile |
| Nephrotic syndrome, type 12 |
| ?Congenital disorder of glycosylation, type 1aa; Mental retardation, autosomal dominant 55, with seizures |
| Night blindness, congenital stationary (complete), 1A, X-linked |
| Gyrate atrophy of choroid and retina with or without ornithinemia |
| Albinism, oculocutaneous, type II; Albinism, brown oculocutaneous; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; [Skin/hair/eye pigmentation 1, blond/brown hair] |
| Pseudo-TORCH syndrome 1 |
| Lowe syndrome, 309000 (3); Dent disease 2 |
| Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10; ?Retinitis pigmentosa 23 |
| Alpha-ketoglutarate dehydrogenase deficiency |
| Mental retardation, X-linked 106 |
| Optic atrophy 1; {Glaucoma, normal tension, susceptibility to}; Optic atrophy plus syndrome; Behr syndrome; ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) |
| 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
| 5-oxoprolinase deficiency |
| Colorblindness, protan; Blue cone monochromacy |
| Immunodeficiency 9; Myopathy, tubular aggregate, 2 |
| Meier-Gorlin syndrome 1 |
| Meier-Gorlin syndrome 2 |
| Meier-Gorlin syndrome 3 |
| Osteopetrosis, autosomal recessive 5 |
| Ornithine transcarbamylase deficiency |
| Deafness, autosomal recessive 22 |
| Deafness, autosomal recessive 9; Auditory neuropathy, autosomal recessive, 1 |
| Deafness, autosomal recessive 18B |
| Deafness, autosomal recessive 84B |
| Autoinflammation, panniculitis, and dermatosis syndrome |
| Bleeding disorder, platelet-type, 8 |
| Osteogenesis imperfecta, type VIII |
| Myopia, high, with cataract and vitreoretinal degeneration |
| Uncombable hair syndrome |
| Preimplantation embryonic lethality 2 |
| Phenylketonuria; [Hyperphenylalaninemia, non-PKU mild] |
| Mental retardation, X-linked 30/47 |
| Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type |
| Neurodegeneration with brain iron accumulation 1; HARP syndrome |
| Brachyolmia 4 with mild epiphyseal and metaphyseal changes |
| Adenocarcinoma of lung, somatic; Adenocarcinoma, ovarian, somatic; Parkinson disease, juvenile, type 2; {Leprosy, susceptibility to} |
| Parkinson disease 7, autosomal recessive early-onset |
| Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
| ?Otofaciocervical syndrome 2 |
| Waardenburg syndrome, type 1; Waardenburg syndrome, type 3; Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar |
| Maturity-onset diabetes of the young, type IX; Diabetes mellitus, type 2; {Diabetes mellitus, ketosis-prone, susceptibility to} |
| Rhabdomyosarcoma 2, alveolar |
| Pyruvate carboxylase deficiency |
| Hyperphenylalaninemia, BH4-deficient, D |
| Propionicacidemia |
| Propionicacidemia |
| Microcephaly, seizures, spasticity, and brain calcification |
| Usher syndrome, type 1F; Deafness, autosomal recessive 23; Usher syndrome, type 1D/F digenic |
| ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic |
| PEPCK deficiency, mitochondrial |
| ?Pontocerebellar hypoplasia, type 3 |
| ?Ataxia-telangiectasia-like disorder 2 |
| Microcephalic osteodysplastic primordial dwarfism, type II |
| Obesity with impaired prohormone processing; {Obesity, susceptibility to, BMIQ12} |
| Spondylometaphyseal dysplasia with cone-rod dystrophy |
| Dyskinesia, limb and orofacial, infantile-onset; Striatal degeneration, autosomal dominant |
| Night blindness, congenital stationary, autosomal dominant 2; Retinitis pigmentosa-40 |
| Cone dystrophy 4 |
| ?Joubert syndrome 22 |
| Retinitis pigmentosa 57 |
| Retinal cone dystrophy 3; Achromatopsia 6 |
| Lacticacidemia due to PDX1 deficiency |
| Pyruvate dehydrogenase phosphatase deficiency |
| Coenzyme Q10 deficiency, primary, 2 |
| Coenzyme Q10 deficiency, primary, 3 |
| Pancreatic agenesis 1; MODY, type IV; {Diabetes mellitus, type II, susceptibility to} |
| {Retinal disease in Usher syndrome type IIA, modifier of}; Usher syndrome, type IIC, GPR98/PDZD7 digenic |
| Prolidase deficiency |
| Mitochondrial complex IV deficiency |
| Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD); Heimler syndrome 1 |
| Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B |
| ?Peroxisome biogenesis disorder 14B |
| Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B |
| Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B |
| Peroxisome biogenesis disorder 13A (Zellweger) |
| Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B |
| Peroxisome biogenesis disorder 12A (Zellweger |
| Peroxisome biogenesis disorder 5A (Zellweger; Peroxisome biogenesis disorder 5B |
| Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B |
| Peroxisome biogenesis disorder 10A (Zellweger); ?Peroxisome biogenesis disorder 10B |
| Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5 |
| Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 |
| Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder 9B |
| – |
| Glycogen storage disease X |
| Mental retardation, autosomal recessive 42 |
| Hyperphosphatasia with mental retardation syndrome 3 |
| Hyperphosphatasia with mental retardation syndrome 4 |
| Phosphoglycerate kinase 1 deficiency |
| Congenital disorder of glycosylation, type It |
| Immunodeficiency 23 |
| ?Progesterone resistance |
| ?Microcephaly 11, primary, autosomal recessive |
| Borjeson-Forssman-Lehmann syndrome |
| Mental retardation syndrome, X-linked, Siderius type |
| Phosphoglycerate dehydrogenase deficiency; Neu-Laxova syndrome 1 |
| Muscle glycogenosis |
| Glycogen storage disease, type IXa1; Glycogen storage disease, type IXa2 |
| Phosphorylase kinase deficiency of liver and muscle, autosomal recessive |
| Glycogen storage disease IXc; Cirrhosis due to liver phosphorylase kinase deficiency |
| Fibrosis of extraocular muscles, congenital, 2 |
| Refsum disease |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| Joubert syndrome 33 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphedema, hereditary, III |
| Arthrogryposis, distal, type 5; Arthrogryposis, distal, type 3 ?Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch |
| Paroxysmal nocturnal hemoglobinuria, somatic; Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| Glycosylphosphatidylinositol biosynthesis defect 16 |
| Mental retardation, autosomal recessive 53 |
| CHIME syndrome |
| Glycosylphosphatidylinositol deficiency |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| Hyperphosphatasia with mental retardation syndrome 2 |
| ?Paroxysmal nocturnal hemoglobinuria 2; Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| Hyperphosphatasia with mental retardation syndrome 1 |
| Glycosylphosphatidylinositol biosynthesis defect 11 |
| Hyperphosphatasia with mental retardation syndrome 6 |
| Ciliary dyskinesia, primary, 36, X-linked |
| Ovarian cancer, somatic; Breast cancer, somatic; Colorectal cancer, somatic; Gastric cancer, somatic; Hepatocellular carcinoma, somatic; Nonsmall cell lung cancer, somatic; Keratosis, seborrheic, somatic; Nevus, epidermal, somatic; CLOVE syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Cowden syndrome 5 |
| ?Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 |
| Ataxia-oculomotor apraxia 3 |
| Parkinson disease 6, early onset |
| Lethal congenital contractural syndrome 3 |
| Heterotaxy, visceral, 8, autosomal |
| Polycystic kidney disease 4, with or without hepatic disease |
| Pyruvate kinase deficiency; Adenosine triphosphate, elevated, of erythrocytes |
| [Fleck retina, familial benign] |
| Infantile neuroaxonal dystrophy 1; Neurodegeneration with brain iron accumulation 2B; Parkinson disease 14, autosomal recessive |
| Platelet-activating factor acetylhydrolase deficiency; {Asthma, susceptibility to}; {Atopy, susceptibility to} |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| Epileptic encephalopathy, early infantile, 12 |
| Auriculocondylar syndrome 2 |
| Nail disorder, nonsyndromic congenital, 3, (leukonychia) |
| Nephrotic syndrome, type 3 |
| ?Spermatogenic failure 17 |
| ?Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Muscular dystrophy, limb-girdle, type 2Q |
| Leukodystrophy and acquired microcephaly with or without dystonia |
| Spinal muscular atrophy, distal, autosomal recessive, 4; Charcot-Marie-Tooth disease, recessive intermediate C |
| Dysplasminogenemia; Plasminogen deficiency, type I |
| Microcephaly and chorioretinopathy, autosomal recessive, 2 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 1 |
| Bruck syndrome 2 |
| Lysyl hydroxylase 3 deficiency |
| Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked |
| Congenital disorder of glycosylation, type Ia |
| Charcot-Marie-Tooth disease, type 1; Dejerine-Sottas disease; Neuropathy, recurrent, with pressure palsies; Charcot-Marie-Tooth disease, type 1E; Roussy-Levy syndrome; ?Neuropathy, inflammatory demyelinating |
| Spinocerebellar ataxia, autosomal recessive 2 |
| Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 4 |
| Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia 4 |
| ?Pancreatic lipase deficiency |
| Immunodeficiency due to purine nucleoside phosphorylase deficiency |
| Ichthyosis, congenital, autosomal recessive 10 |
| Neutral lipid storage disease with myopathy |
| Spastic paraplegia 39, autosomal recessive; Boucher-Neuhauser syndrome; ?Laurence-Moon syndrome; Oliver-McFarlane syndrome |
| ?Mitochondrial myopathy with lactic acidosis |
| Pyridoxamine 5′-phosphate oxidase deficiency |
| Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 |
| Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis |
| Cone-rod dystrophy 20 |
| ?Premature ovarian failure 2B |
| Dowling-Degos disease 4; ?Muscular dystrophy, limb-girdle, type 2Z |
| Pigmentary disorder, reticulate, with systemic manifestations, X-linked |
| FILS syndrome; {Colorectal cancer, susceptibility to, 12} |
| Progressive external ophthalmoplegia, autosomal recessive 1; Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) |
| Xeroderma pigmentosum, variant type |
| Treacher Collins syndrome 3, 248390 (3); Leukodystrophy, hypomyelinating, 11 |
| Treacher Collins syndrome 2 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism |
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| Obesity, adrenal insufficiency, and red hair due to POMC deficiency; {Obesity, early-onset, susceptibility to} |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Retinitis pigmentosa 76 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 |
| Anauxetic dysplasia |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome P450 oxidoreductase |
| Pituitary hormone deficiency, combined, 1 |
| Deafness, X-linked 2 |
| Sudden cardiac failure, infantile; ?Sudden cardiac failure, alcohol-induced |
| Obesity, severe; [Obesity, resistance to]; Insulin resistance, severe, digenic; Lipodystrophy, familial partial, type 3; Carotid intimal medial thickness 1; {Diabetes, type 2} |
| {Obesity, variation in} |
| Osteogenesis imperfecta, type IX |
| Microcephaly, short stature, and impaired glucose metabolism 2 |
| Lung cancer |
| Ceroid lipofuscinosis, neuronal, 1 |
| Renpenning syndrome |
| Neuropathy, hereditary sensory and autonomic, type VIII |
| Brittle cornea syndrome 2 |
| ?Epilepsy, progressive myoclonic, 10 |
| Methylmalonic aciduria and homocystinuria, cblC type, digenic |
| ?Myasthenic syndrome, congenital, 22 |
| Hemophagocytic lymphohistiocytosis, familial, 2; Lymphoma, non-Hodgkin; Aplastic anemia |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| Epilepsy, progressive myoclonic 1B |
| ?Bleeding disorder, platelet-type, 19 |
| Autoimmune lymphoproliferative syndrome, type III |
| Immunodeficiency 26, with or without neurologic abnormalities |
| Dystonia 16 |
| Short stature, brachydactyly, intellectual developmental disability, and seizures |
| Thrombophilia due to protein C deficiency, autosomal dominant); Thrombophilia due to protein C deficiency, autosomal recessive |
| Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4} |
| Retinitis pigmentosa 41; Cone-rod dystrophy 12; Stargardt disease 4; Macular dystrophy, retinal, 2 |
| Pituitary hormone deficiency, combined, 2 |
| Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive |
| Epilepsy, early-onset, vitamin B6-dependent |
| {Amyotrophic lateral sclerosis, susceptibility to} |
| Retinitis pigmentosa 7 and digenic; Leber congenital amaurosis 18; Macular dystrophy, patterned, 1; Retinitis punctata albescens; Choroidal dystrophy, central areolar 2; Macular dystrophy, vitelliform, 3 |
| Gout, PRPS-related; Phosphoribosylpyrophosphate synthetase superactivity; Charcot-Marie-Tooth disease, X-linked recessive, 5; Arts syndrome; Deafness, X-linked 1 |
| Agnathia-otocephaly complex |
| Pancreatitis, hereditary; Trypsinogen deficiency |
| Mental retardation, autosomal recessive 1 |
| Microphthalmia, isolated 6 |
| Dejerine-Sottas disease; Charcot-Marie-Tooth disease, type 4F |
| Metachromatic leukodystrophy due to SAP-b deficiency; Gaucher disease, atypical; Combined SAP deficiency; Krabbe disease, atypical |
| ?Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 |
| – |
| Autoinflammation, lipodystrophy, and dermatosis syndrome |
| – |
| Ovarian dysgenesis 3 |
| Phosphoserine phosphatase deficiency |
| Medulloblastoma, somatic; Basal cell carcinoma, somatic; Basal cell nevus syndrome |
| {Autism, susceptibility to, X-linked 4} |
| Cowden syndrome 1; Lhermitte-Duclos syndrome; Bannayan-Riley-Ruvalcaba syndrom; {Meningioma; {Glioma susceptibility 2}; Macrocephaly/autism syndrome; PTEN hamartoma tumor syndrome; VATER association with macrocephaly and ventriculomegaly; {Prostate cancer, somatic} Malignant melanoma, somatic; Endometrial carcinoma, somatic; Squamous cell carcinoma, head and neck, somatic |
| Pancreatic and cerebellar agenesis; Pancreatic agenesis 2 |
| {Asthma, aspirin-induced, susceptibility to} |
| Chondrodysplasia, Blomstrand type; Eiken syndrome; Failure of tooth eruption, primary; Metaphyseal chondrodysplasia, Murk Jansen type |
| ?Choanal atresia and lymphedema |
| {Diabetes, type 1, susceptibility to}; {Rheumatoid arthritis, susceptibility to}; {Systemic lupus erythematosus susceptibility to} |
| {Hepatitis C virus, susceptibility to}; Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive |
| ?Breasts and/or nipples, aplasia or hypoplasia of |
| Nephrotic syndrome, type 6 |
| Deafness, autosomal recessive 84A; Deafness, autosomal dominant 73 |
| Lipodystrophy, congenital generalized, type 4 |
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease |
| Hyperphenylalaninemia, BH4-deficient, A |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| ?Mental retardation, autosomal recessive 55 |
| Anterior segment dysgenesis 7, with sclerocornea |
| Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB |
| Leukodystrophy, hypomyelinating, 10 |
| Glycogen storage disease VI |
| McArdle disease |
| Myopathy, myofibrillar, 8 |
| Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy |
| Hyperphenylalaninemia, BH4-deficient, C |
| Warburg micro syndrome 3 |
| Carpenter syndrome |
| Griscelli syndrome, type 2 |
| Cone-rod dystrophy 18 |
| Smith-McCort dysplasia 2 |
| Mental retardation, X-linked 72; ?Waisman syndrome |
| Warburg micro syndrome 1 |
| Martsolf syndrome; Warburg micro syndrome 2 |
| Fanconi anemia, complementation group O; {Breast-ovarian cancer, familial, susceptibility to, 3} |
| Severe combined immunodeficiency, B cell-negative; Omenn syndrome; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Combined cellular and humoral immune defects with granulomas |
| Severe combined immunodeficiency, B cell-negative; Omenn syndrome; Combined cellular and humoral immune defects with granulomas |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence |
| Microphthalmia, syndromic 12 |
| Leukodystrophy, hypomyelinating, 9 |
| Pontocerebellar hypoplasia, type 6 |
| ?Bleeding disorder, platelet-type, 18 |
| Lung cancer |
| Microphthalmia, isolated 3 |
| Retinoblastoma; Osteosarcoma, somatic; Bladder cancer, somatic; Small cell cancer of the lung, somatic; Retinoblastoma, trilateral |
| Pancreatic carcinoma, somatic; Seckel syndrome 2; Jawad syndrome |
| Polyglucosan body myopathy 1 with or without immunodeficiency |
| TARP syndrome |
| ?Alopecia, neurologic defects, and endocrinopathy syndrome |
| Thrombocytopenia-absent radius syndrome |
| ?Mental retardation, X-linked, syndromic 11, Shashi type |
| ?Retinitis pigmentosa 66 |
| Retinal dystrophy, iris coloboma, and comedogenic acne syndrome; Microphthalmia, isolated, with coloboma 10 |
| Retinal dystrophy with or without extraocular anomalies |
| Leber congenital amaurosis 12 |
| ?Retinal dystrophy, juvenile cataracts, and short stature syndrome |
| Leber congenital amaurosis 13 |
| Fundus albipunctatus |
| Deafness, autosomal recessive 24 |
| Rothmund-Thomson syndrome; RAPADILINO syndrome; Baller-Gerold syndrome |
| ?Spastic paraplegia 72, autosomal recessive; ?Spastic paraplegia 72, autosomal dominant |
| Retinitis pigmentosa 77 |
| Lissencephaly 2 (Norman-Roberts type); {Epilepsy, familial temporal lobe, 7} |
| [Hyperproreninemia] (3); Renal tubular dysgenesis; Hyperuricemic nephropathy, familial juvenile 2 |
| Congenital disorder of glycosylation, type In |
| Bare lymphocyte syndrome, type II, complementation group C; Bare lymphocyte syndrome, type II, complementation group E |
| Mitchell-Riley syndrome |
| MHC class II deficiency, complementation group B |
| Bare lymphocyte syndrome, type II, complementation group D |
| Retinitis pigmentosa 4, autosomal dominant or recessive; Night blindness, congenital stationary, autosomal dominant 1; Retinitis punctata albescens |
| Macrocephaly, alopecia, cutis laxa, and scoliosis |
| Popliteal pterygium syndrome, Bartsocas-Papas type |
| ?Spondylocostal dysostosis 6 |
| Fundus albipunctatus; Retinitis punctata albescens; Newfoundland rod-cone dystrophy; Bothnia retinal dystrophy |
| Mental retardation, X-linked 61 |
| Combined oxidative phosphorylation deficiency 11 |
| Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosis; Anauxetic dysplasia 1 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
| Aicardi-Goutieres syndrome 4 |
| Aicardi-Goutieres syndrome 2 |
| Aicardi-Goutieres syndrome 3 |
| Leukoencephalopathy, cystic, without megalencephaly |
| RIDDLE syndrome |
| Cerebellar ataxia and hypogonadotropic hypogonadism |
| Microcephalic osteodysplastic primordial dwarfism, type I; Roifman syndrome |
| Gaze palsy, familial horizontal, with progressive scoliosis, 1 |
| Kohlschutter-Tonz syndrome |
| Retinitis pigmentosa 7, digenic |
| Brachydactyly, type B1; Robinow syndrome, autosomal recessive |
| Immunodeficiency 42 |
| Retinitis pigmentosa 1 |
| Leber congenital amaurosis 2; Retinitis pigmentosa 20 |
| Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic; Cone-rod dystrophy, X-linked, 1 |
| Joubert syndrome 7; Meckel syndrome 5; COACH syndrome |
| ?Ribose 5-phosphate isomerase deficiency |
| {Autism, susceptibility to, X-linked 5}; Mental retardation, X-linked, syndromic, 35 |
| Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; Mitochondrial DNA depletion syndrome 8B (MNGIE type) |
| Retinoschisis |
| Ciliary dyskinesia, primary, 24 |
| Ciliary dyskinesia, primary, 32 |
| Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; Palmoplantar hyperkeratosis and true hermaphroditism |
| Anonychia congenita |
| Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type |
| Dyskeratosis congenita, autosomal recessive 5; Dyskeratosis congenita, autosomal dominant 4; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
| Optic atrophy 10 with or without ataxia, mental retardation, and seizures |
| Microcephaly, short stature, and polymicrogyria with seizures |
| ?Spinocerebellar ataxia, autosomal recessive 15 |
| Mental retardation, autosomal recessive 61 |
| {Malignant hyperthermia susceptibility 1}; Central core disease; Minicore myopathy with external ophthalmoplegia; Neuromuscular disease, congenital, with uniform type 1 fiber; King-Denborough syndrome |
| Deafness, autosomal recessive 68 |
| Spastic ataxia, Charlevoix-Saguenay type |
| Oguchi disease-; Retinitis pigmentosa 47 |
| ?Coloboma, ocular, autosomal recessive |
| Tumoral calcinosis, familial, normophosphatemic; MIRAGE syndrome |
| Aicardi-Goutieres syndrome 5; ?Chilblain lupus 2 |
| Chylomicron retention disease |
| [Sarcosinemia] |
| ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures |
| Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
| ?Microcephaly 14, primary, autosomal recessive |
| Shwachman-Diamond syndrome; {Aplastic anemia, susceptibility to} |
| Charcot-Marie-Tooth disease, type 4B3 |
| Charcot-Marie-Tooth disease, type 4B2 |
| Lathosterolosis |
| Epilepsy, progressive myoclonic 4, with or without renal failure |
| Van den Ende-Gupta syndrome |
| Epilepsy, generalized, with febrile seizures plus, type 1; Brugada syndrome 5; Cardiac conduction defect, nonspecific; Atrial fibrillation, familial, 13; Epileptic encephalopathy, early infantile, 52 |
| Hyperkalemic periodic paralysis, type 2; Paramyotonia congenita; Myotonia congenita, atypical, acetazolamide-responsive; Myasthenic syndrome, congenital, 16; Hypokalemic periodic paralysis, type 2 |
| Long QT syndrome-3; Brugada syndrome 1; Heart block, progressive, type IA; Heart block, nonprogressive Ventricular fibrillation, familial, 1; Sick sinus syndrome 1; Cardiomyopathy, dilated, 1E; {Sudden infant death syndrome, susceptibility to}; Atrial fibrillation, familial, 10 |
| Erythermalgia, primary; Paroxysmal extreme pain disorder; Insensitivity to pain, congenital; Febrile seizures, familial, 3B; Epilepsy, generalized, with febrile seizures plus, type 7; Small fiber neuropathy; {Dravet syndrome, modifier of}; HSAN2D, autosomal recessive |
| Pseudohypoaldosteronism, type I; Bronchiectasis with or without elevated sweat chloride 2 |
| Liddle syndrome; Pseudohypoaldosteronism, type I; Bronchiectasis with or without elevated sweat chloride 1 |
| Liddle syndrome; Pseudohypoaldosteronism, type I; Bronchiectasis with or without elevated sweat chloride 3 |
| Mitochondrial complex IV deficiency |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 |
| ?Leukoencephalopathy with dystonia and motor neuropathy |
| Spinocerebellar ataxia, autosomal recessive 21 |
| {Obesity, association with} |
| Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 |
| Leigh syndrome; Mitochondrial respiratory chain complex II deficiency; Cardiomyopathy, dilated, 1GG; Paragangliomas 5 |
| Mitochondrial complex II deficiency |
| Paragangliomas 1, with or without deafness, 168000 (3); Pheochromocytoma, 171300 (3); Carcinoid tumors, intestinal, 114900 (3); Merkel cell carcinoma, somatic (3); Paraganglioma and gastric stromal sarcoma; Cowden syndrome 3; Mitochondrial complex II deficiency |
| Ichthyosis, congenital, autosomal recessive 13 |
| Craniolenticulosutural dysplasia |
| Dyserythropoietic anemia, congenital, type II; Cowden syndrome 7 |
| Cole-Carpenter syndrome 2 |
| Retinitis pigmentosa 35; Cone-rod dystrophy 10 |
| Pontocerebellar hypoplasia type 2D |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Hemorrhagic diathesis due to antithrombin Pittsburgh; {Pulmonary disease, chronic obstructive, susceptibility to} |
| Corticosteroid-binding globulin deficiency |
| ?Deafness, autosomal recessive 91 |
| Palmoplantar keratoderma, Nagashima type |
| Peeling skin syndrome 5 |
| Thrombophilia due to antithrombin III deficiency |
| Plasminogen activator inhibitor-1 deficiency; {Transcription of plasminogen activator inhibitor, modulator of} |
| Alpha-2-plasmin inhibitor deficiency |
| Angioedema, hereditary, types I and II; Complement component 4, partial deficiency of |
| {Preterm premature rupture of the membranes, susceptibility to}; Osteogenesis imperfecta, type X |
| Amyotrophic lateral sclerosis 4, juvenile; Spinocerebellar ataxia, autosomal recessive 1 |
| Pyle disease |
| Surfactant metabolism dysfunction, pulmonary, 1 |
| Combined oxidative phosphorylation deficiency 18 |
| Muscular dystrophy, limb-girdle, type 2D |
| Muscular dystrophy, limb-girdle, type 2E |
| Muscular dystrophy, limb-girdle, type 2F; Cardiomyopathy, dilated, 1L |
| Muscular dystrophy, limb-girdle, type 2C |
| Mucopolysaccharidosis type IIIA (Sanfilippo A) |
| Lymphoproliferative syndrome, X-linked, 1 |
| Frank-ter Haar syndrome |
| Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild |
| Short stature, idiopathic familial; Leri-Weill dyschondrosteosis; Langer mesomelic dysplasia |
| [Sedoheptulokinase deficiency] |
| Sucrase-isomaltase deficiency, congenital |
| ?Amyotrophic lateral sclerosis 16, juvenile; ?Spinal muscular atrophy, distal, autosomal recessive, 2 |
| Marinesco-Sjogren syndrome |
| Obesity, severe |
| ?Cataract 45 |
| Optic disc anomalies with retinal and/or macular dystrophy |
| Trichohepatoenteric syndrome 2 |
| Bile acid malabsorption, primary |
| Anemia, hypochromic microcytic, with iron overload 1 |
| Bartter syndrome, type 1 |
| Gitelman syndrome |
| Epileptic encephalopathy, early infantile, 34; {Epilepsy, idiopathic generalized, susceptibility to, 14} |
| Agenesis of the corpus callosum with peripheral neuropathy |
| Epileptic encephalopathy, early infantile, 25 |
| Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency |
| Salla disease; Sialic acid storage disorder, infantile |
| Myasthenic syndrome, congenital, 21, presynaptic |
| Thiamine-responsive megaloblastic anemia syndrome |
| Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
| {?Schizophrenia susceptibility 18}; Dicarboxylic aminoaciduria |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
| Hypouricemia, renal |
| Breast cancer, somatic; Lung cancer, somatic; Rhabdomyosarcoma, somatic |
| Carnitine deficiency, systemic primary |
| Night blindness, congenital stationary (complete), 1D, autosomal recessive |
| [Skin/hair/eye pigmentation 6, blond/brown hair]; [Skin/hair/eye pigmentation 6, blue/green eyes]; Amelogenesis imperfecta, type IIA5 |
| [Skin/hair/eye pigmentation 4, fair/dark skin]; Albinism, oculocutaneous, type VI |
| Combined D-2- and L-2-hydroxyglutaric aciduria |
| Epileptic encephalopathy, early infantile, 39 |
| Citrullinemia, adult-onset type I; Citrullinemia, type II, neonatal-onset |
| Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) |
| Carnitine-acylcarnitine translocase deficiency |
| Epileptic encephalopathy, early infantile, 3 |
| Combined oxidative phosphorylation deficiency 28 |
| ?Exercise intolerance, riboflavin-responsive |
| Anemia, sideroblastic, 2, pyridoxine-refractory |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR |
| Neuropathy, hereditary motor and sensory, type VIB |
| ?Nephrolithiasis, calcium oxalate |
| Diastrophic dysplasia; Atelosteogenesis II; Achondrogenesis Ib; Epiphyseal dysplasia, multiple, 4; Diastrophic dysplasia, broad bone-platyspondylic variant; De la Chapelle dysplasia |
| Diarrhea 1, secretory chloride, congenital |
| Pendred syndrome; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
| ?Deafness, autosomal recessive 61 |
| Histiocytosis-lymphadenopathy plus syndrome |
| GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; {Epilepsy, idiopathic generalized, susceptibility to, 12}; Dystonia 9; Stomatin-deficient cryohydrocytosis with neurologic defects |
| Arterial tortuosity syndrome |
| {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome |
| {Uric acid concentration, serum, QTL 2}; Hypouricemia, renal, 2 |
| Hypermanganesemia with dystonia 1 |
| Spastic paraplegia 42, autosomal dominant; Congenital cataracts, hearing loss, and neurodegeneration |
| Nephrolithiasis/osteoporosis, hypophosphatemic, 1; ?Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 |
| Pulmonary alveolar microlithiasis |
| Hypophosphatemic rickets with hypercalciuria |
| Congenital disorder of glycosylation, type Iif |
| ?Arthrogryposis, mental retardation, and seizures |
| Congenital disorder of glycosylation, type Iic |
| Schneckenbecken dysplasia |
| Iminoglycinuria, digenic; Hyperglycinuria |
| Glycogen storage disease Ib; Glycogen storage disease Ic |
| Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis |
| Spondylocheirodysplasia, Ehlers-Danlos syndrome-like |
| Hypermanganesemia with dystonia 2 |
| Acrodermatitis enteropathica |
| Congenital disorder of glycosylation, type Iin |
| Cystinuria |
| Albinism, oculocutaneous, type IV; [Skin/hair/eye pigmentation 5, black/nonblack hair]; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, dark/light eyes] |
| Folate malabsorption, hereditary |
| Ovalocytosis, SA type; Spherocytosis, type 4; [Malaria, resistance to]; Renal tubular acidosis, distal, AD; Renal tubular acidosis, distal, AR; [Blood group, Diego]; [Blood group, Waldner]; [Blood group, Wright]; [Blood group, Froese]; [Blood group, Swann]; Cryohydrocytosis |
| Corneal endothelial dystrophy, autosomal recessive; Corneal endothelial dystrophy and perceptive deafness; Corneal dystrophy, Fuchs endothelial, 4 |
| Renal tubular acidosis, proximal, with ocular abnormalities |
| Brown-Vialetto-Van Laere syndrome 2 |
| Brown-Vialetto-Van Laere syndrome 1; ?Fazio-Londe disease |
| Glucose/galactose malabsorption |
| Renal glucosuria |
| Thyroid dyshormonogenesis 1 |
| Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic |
| Mental retardation, autosomal recessive 48 |
| Hartnup disorder; Iminoglycinuria, digenic; Hyperglycinuria |
| Hyperglycinuria; Iminoglycinuria, digenic |
| {Nicotine dependence, protection against}; Parkinsonism-dystonia, infantile |
| Hyperekplexia 3 |
| Cerebral creatine deficiency syndrome 1 |
| Glycine encephalopathy with normal serum glycine |
| Retinitis pigmentosa 68 |
| Lysinuric protein intolerance |
| Cystinuria |
| ?Lichtenstein-Knorr syndrome |
| Diarrhea 8, secretory sodium, congenital |
| Hyperbilirubinemia, Rotor type, digenic |
| Hyperbilirubinemia, Rotor type, digenic |
| Hypertrophic osteoarthropathy, primary, autosomal recessive 2 |
| Deafness and myopia |
| Meleda disease |
| Fanconi anemia, complementation group P |
| Schimke immunoosseous dysplasia |
| Specific granule deficiency 2 |
| Heart and brain malformation syndrome |
| [Blood group, Vel system] |
| Microphthalmia with limb anomalies |
| Dentin dysplasia, type I, with microdontia and misshapen teeth |
| Niemann-Pick disease, type A; Niemann-Pick disease, type B |
| Mental retardation, X-linked, Snyder-Robinson type |
| Waardenburg syndrome, type 2D; Piebaldism |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism |
| Leukoencephalopathy, brain calcifications, and cysts |
| Osteopetrosis, autosomal recessive 8 |
| Spinocerebellar ataxia, autosomal recessive 20 |
| Mental retardation, anterior maxillary protrusion, and strabismus |
| Amyotrophic lateral sclerosis 1 |
| Ovarian dysgenesis 5 |
| Sclerosteosis 1; Van Buchem disease; Craniodiaphyseal dysplasia, autosomal dominant |
| Hypotrichosis-lymphedema-telangiectasia syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| Hepatic venoocclusive disease with immunodeficiency; {Mycobacterium tuberculosis, susceptibility to} |
| ?Osteogenesis imperfecta, type XII |
| Ciliary dyskinesia, primary, 28 |
| Osteogenesis imperfecta, type XVII |
| ?Spermatogenic failure 6 |
| Epilepsy, hearing loss, and mental retardation syndrome |
| Centronuclear myopathy 5 |
| Spastic paraplegia 11, autosomal recessive; Amyotrophic lateral sclerosis 5, juvenille; Charcot-Marie-Tooth disease, axonal, type 2X |
| Troyer syndrome |
| Mast syndrome |
| Spastic paraplegia 7, autosomal recessive |
| Pancreatitis, hereditary; {Fibrocalculous pancreatic diabetes, susceptibility to}; Tropical calcific pancreatitis, 608189 (3) |
| Netherton syndrome |
| Diarrhea 3, secretory sodium, congenital, syndromic |
| Dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
| Ruijs-Aalfs syndrome |
| Elliptocytosis-2; Pyropoikilocytosis; Spherocytosis, type 3 |
| Spinocerebellar ataxia 5, 600224 (3); Spinocerebellar ataxia, autosomal recessive 14 |
| Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Myopathy, distal, with rimmed vacuoles |
| Pseudovaginal perineoscrotal hypospadias |
| Congenital disorder of glycosylation, type Iq; Kahrizi syndrome |
| Congenital disorder of glycosylation, type Iy |
| Ichthyosis, congenital, autosomal recessive 11 |
| Mental retardation, autosomal recessive 12; ?Epileptic encephalopathy, early infantile, 15 |
| Salt and pepper developmental regression syndrome |
| Native American myopathy |
| Premature ovarian failure 8 |
| Microcephaly-capillary malformation syndrome |
| Lipoid adrenal hyperplasia |
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive; Immunodeficiency 31C, autosomal dominant |
| Immunodeficiency 44 |
| Microcephaly 7, primary, autosomal recessive |
| Immunodeficiency 10,; Myopathy, tubular aggregate, 1; Stormorken syndrome |
| Microphthalmia, syndromic 9; Microphthalmia, isolated, with coloboma 8 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy |
| Ichthyosis, X-linked, 308100 (3) |
| ?Congenital disorder of glycosylation, type Iw |
| ?Congenital disorder of glycosylation, type Ix |
| Spinocerebellar ataxia, autosomal recessive 16 |
| Hemophagocytic lymphohistiocytosis, familial, 4 |
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
| Medulloblastoma, desmoplastic; {Meningioma, familial, susceptibility to}; Basal cell nevus syndrome; Joubert syndrome 32 |
| Glutaric aciduria III |
| Ichthyosis, congenital, autosomal recessive 14 |
| Multiple sulfatase deficiency |
| Spermatogenic failure 16 |
| Sulfite oxidase deficiency |
| Leigh syndrome, due to COX IV deficiency; Charcot-Marie-Tooth disease, type 4K |
| ?Premature ovarian failure 12; ?Spermatogenic failure 15, 616950 (3) |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders |
| Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| Deafness, autosomal recessive 76 |
| Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 |
| Spinocerebellar ataxia, autosomal recessive 11 |
| Epileptic encephalopathy, early infantile, 18 |
| {Neural tube defects, susceptibility to}; Sacral agenesis with vertebral anomalies |
| Hypogonadotropic hypogonadism 10 with or without anosmia |
| Mitochondrial complex IV deficiency |
| Hypogonadotropic hypogonadism 11 with or without anosmia |
| Corneal dystrophy, gelatinous drop-like |
| Dystonia-Parkinsonism, X-linked; Mental retardation, X-linked, syndromic 33 |
| Mental retardation, autosomal recessive 60 |
| Mental retardation, autosomal recessive 40 |
| ?Spermatogenic failure 13 |
| Alazami-Yuan syndrome |
| Transaldolase deficiency |
| Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
| Bare lymphocyte syndrome, type I |
| Bare lymphocyte syndrome, type I, due to TAP2 deficiency; Wegener-like granulomatosis |
| Bare lymphocyte syndrome, type I |
| Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type |
| ?Combined oxidative phosphorylation deficiency 21 |
| Tyrosinemia, type II |
| Barth syndrome |
| Warburg micro syndrome 4 |
| Pontocerebellar hypoplasia, type 11 |
| Myoclonic epilepsy, infantile, familial; Epileptic encephalopathy, early infantile, 16; DOORS syndrome; Deafness , autosomal recessive 86; Deafness, autosomal dominant 65 |
| Macrocephaly/megalencephaly syndrome, autosomal recessive |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum |
| Kenny-Caffey syndrome, type 1; Hypoparathyroidism-retardation-dysmorphism syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| Cousin syndrome |
| Adrenocorticotropic hormone deficiency |
| {Asthma, aspirin-induced, susceptibility to}; Asthma and nasal polyps |
| Spondylocostal dysostosis 5 |
| Ghosal hematodiaphyseal syndrome; ?Thromboxane synthase deficiency |
| Muscular dystrophy, limb-girdle, type 2G; Cardiomyopathy, hypertrophic, 25 |
| ?Uncombable hair syndrome 3 |
| Osteopetrosis, autosomal recessive 1 |
| Transcobalamin II deficiency |
| Short-rib thoracic dysplasia 17 with or without polydactyly |
| Joubert syndrome 13 |
| ?Meckel syndrome 8; Joubert syndrome 24 |
| Orofaciodigital syndrome IV; Joubert syndrome 18 |
| [?Hypertryptophanemia |
| Spinocerebellar ataxia, autosomal recessive 23 |
| Cataract 36 |
| Transient erythroblastopenia of childhood |
| Spastic paraplegia 49, autosomal recessive |
| Mental retardation, autosomal recessive 14 |
| Ventricular tachycardia, catecholaminergic polymorphic, 3 |
| Deafness, autosomal dominant 8/12; Deafness, autosomal recessive 21 |
| You-Hoover-Fong syndrome |
| Microphthalmia, isolated, with coloboma 9 |
| {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; {Dyskeratosis congenita, autosomal recessive 4}; {Dyskeratosis congenita, autosomal dominant 2}; {Leukemia, acute myeloid}; {Melanoma, cutaneous malignant, 9} |
| Spermatogenic failure, X-linked, 2 |
| ?Spermatogenic failure 23 |
| – |
| Atransferrinemia |
| ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |
| Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3); ?Spastic paraplegia 57, autosomal recessive, 615658 (3) |
| Hemochromatosis, type 3 |
| Immunodeficiency 46 |
| Thyroid dyshormonogenesis 3; {Autoimmune thyroid disease, susceptibility to, 3} |
| Catel-Manzke syndrome |
| Camurati-Engelmann disease; {Cystic fibrosis lung disease, modifier of} |
| Ichthyosis, congenital, autosomal recessive 1 |
| ?Uncombable hair syndrome 2 |
| Peeling skin syndrome 2 |
| Segawa syndrome, recessive |
| Mental retardation, X-linked 12/35 |
| Beaulieu-Boycott-Innes syndrome |
| Thyroid hormone resistance; Thyroid hormone resistance, autosomal recessive; Thyroid hormone resistance, selective pituitary |
| Welander distal myopathy |
| {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6} |
| 3-methylglutaconic aciduria, type IX |
| Mohr-Tranebjaerg syndrome |
| Hypercholanemia, familia; Cholestasis, progressive familial intrahepatic 4 |
| Mitochondrial DNA depletion syndrome 2 (myopathic type); ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
| Short stature, developmental delay, and congenital heart defects |
| Preimplantation embryonic lethality |
| {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}; {HIV1 infection, resistance to} |
| Deafness, autosomal recessive 7; Deafness, autosomal dominant 36 |
| Epidermodysplasia verruciformis |
| Epidermodysplasia verruciformis |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
| Meckel syndrome 13; ?Joubert syndrome 29; Orofaciodigital syndrome XVI |
| Optic atrophy 7 |
| Mitochondrial complex I deficiency |
| Joubert syndrome 16 |
| Congenital disorder of glycosylation, type Iik |
| Congenital disorder of glycosylation, type Iip |
| Joubert syndrome 2; Meckel syndrome 2 |
| Joubert syndrome 20; Meckel syndrome 11 |
| Joubert syndrome 14 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 |
| Meckel syndrome 3; Joubert syndrome 6; {Bardet-Biedl syndrome 14, modifier of}; COACH syndrome; Nephronophthisis 11 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 |
| Carey-Fineman-Ziter syndrome |
| Deafness, autosomal recessive 6 |
| {Autism, susceptibility to, X-linked 6} |
| Enterokinase deficiency |
| Deafness, autosomal recessive 8/10 |
| Iron-refractory iron deficiency anemia |
| Lissencephaly 8 |
| Squamous cell carcinoma, head and neck |
| Paget disease of bone 5, juvenile-onset |
| Immunoglobulin A deficiency 2; Immunodeficiency, common variable, 2 |
| Immunodeficiency, common variable, 4 |
| ?Immunodeficiency 16 |
| Osteopetrosis, autosomal recessive 2 |
| Mental retardation, autosomal recessive 54 |
| Cardiomyopathy, hypertrophic, 7; Cardiomyopathy, familial restrictive, 1; ?Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF |
| Nemaline myopathy 5, Amish type |
| Ehlers-Danlos syndrome, classic-like; Vesicoureteral reflux 8 |
| Pontocerebellar hypoplasia, type7 |
| ?Muscular dystrophy, limb-girdle, type 2Y |
| Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; {Basal cell carcinoma 7}, 614740 (3); {Glioma susceptibility 1} |
| Galloway-Mowat syndrome 4 |
| Hemolytic anemia due to triosephosphate isomerase deficiency |
| Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) |
| Nemaline myopathy 1, autosomal dominant or recessive; CAP myopathy 1; Myopathy, congenital, with fiber-type disproportion |
| {Thiopurines, poor metabolism of, 1} |
| Thyroid dyshormonogenesis 2A |
| Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive 7 |
| Deafness, autosomal recessive 79 |
| Immunodeficiency 7, TCR-alpha/beta deficient |
| Senior-Loken syndrome 9 |
| {Psoriasis susceptibility 13}; ?Candidiasis, familial, 8 |
| Seckel syndrome 9 |
| Muscular dystrophy, limb-girdle, type 2S |
| Spondyloepiphyseal dysplasia tarda |
| Mental retardation, autosomal recessive 13 |
| Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness |
| Trehalase deficiency |
| Nasu-Hakola disease |
| Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus, 610448 (3); Vasculopathy, retinal, with cerebral leukodystrophy; {Systemic lupus erythematosus, susceptibility to} |
| Thyrotropin-releasing hormone deficiency |
| Charcot-Marie-Tooth disease, type 2R |
| Muscular dystrophy, limb-girdle, type 2H; ?Bardet-Biedl syndrome 11 |
| Mulibrey nanism |
| Deafness, autosomal recessive 28 |
| Achondrogenesis, type IA |
| Mosaic variegated aneuploidy syndrome 3 |
| Spinal muscular atrophy with congenital bone fractures 1; ?Muscular dystrophy, congenital, Davignon-Chauveau type |
| Combined oxidative phosphorylation deficiency 35 |
| Microcephaly, short stature, and impaired glucose metabolism 1 |
| Combined oxidative phosphorylation deficiency 30 |
| Combined oxidative phosphorylation deficiency 26 |
| {Deafness, mitochondrial, modifier of}; Liver failure, transient infantile |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis |
| Hypomagnesemia 1, intestinal |
| Pontocerebellar hypoplasia, type 2F |
| Pontocerebellar hypoplasia type 2B |
| Pontocerebellar hypoplasia type 2A,; Pontocerebellar hypoplasia type 4; ?Pontocerebellar hypoplasia type 5 |
| Combined oxidative phosphorylation deficiency 3 |
| Hypothyroidism, congenital, nongoitrous 4, |
| Hypothyroidism, congenital, nongoitrous, 1; Thyroid adenoma, hyperfunctioning, somatic; Hyperthyroidism, nonautoimmune; Thyroid carcinoma with thyrotoxicosis; Hyperthyroidism, familial gestational |
| Mental retardation, X-linked 58 |
| ?Deafness, autosomal recessive 98 |
| Sudden infant death with dysgenesis of the testes syndrome |
| ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
| Mitochondrial complex III deficiency, nuclear type 2 |
| Nephronophthisis 12, 613820 (3); Short-rib thoracic dysplasia 4 with or without polydactyly |
| Ciliary dyskinesia, primary, 35 |
| Trichohepatoenteric syndrome 1 |
| Gastrointestinal defects and immunodeficiency syndrome |
| Bardet-Biedl syndrome 8; ?Retinitis pigmentosa 51 |
| Mental retardation, autosomal recessive 39 |
| Cone-rod dystrophy 19 |
| Cardiomyopathy, familial hypertrophic, 9; Cardiomyopathy, dilated, 1G; Tibial muscular dystrophy, tardive; Muscular dystrophy, limb-girdle, type 2J; Myopathy, proximal, with early respiratory muscle involvement; Salih myopathy |
| Ataxia with isolated vitamin E deficiency |
| ?Retinal dystrophy and obesity |
| Cortical dysplasia, complex, with other brain malformations 8 |
| Oocyte maturation defect 2 |
| Microcephaly and chorioretinopathy, autosomal recessive, 3 |
| Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| Combined oxidative phosphorylation deficiency 4 |
| Retinitis pigmentosa 14; Leber congenital amaurosis 15 |
| Mental retardation, autosomal recessive 7 |
| Focal facial dermal dysplasia 3, Setleis type; Barber-Say syndrome; Ablepharon-macrostomia syndrome |
| ?Combined oxidative phosphorylation deficiency 29 |
| Burn-McKeown syndrome |
| ?Glucocorticoid deficiency 5 |
| Immunodeficiency 35 |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; [Skin/hair/eye pigmentation 3, light/dark/freckling skin]; {Melanoma, cutaneous malignant, susceptibility to, 8}; [Skin/hair/eye pigmentation 3, blue/green eyes] |
| Nasu-Hakola disease |
| Albinism, oculocutaneous, type III; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] |
| Spinal muscular atrophy, X-linked 2, infantile |
| Epileptic encephalopathy, early infantile, 44; ?Spinocerebellar ataxia, autosomal recessive 24 |
| Mental retardation, X-linked syndromic, Nascimento-type |
| Fanconi anemia, complementation group T, 616435 (3) |
| Kaufman oculocerebrofacial syndrome, 244450 (3) |
| Johanson-Blizzard syndrome |
| {?Parkinson disease 5, susceptibility to}; Spastic paraplegia 79, autosomal recessive |
| {Obesity, susceptibility to} |
| {Obesity, severe, and type II diabetes} |
| Crigler-Najjar syndrome, type I; [Gilbert syndrome; Crigler-Najjar syndrome, type II; Hyperbilirubinemia, familial transient neonatal; [Bilirubin, serum level of, QTL1] |
| Orotic aciduria |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| Immunodeficiency with hyper IgM, type 5 |
| Beta-ureidopropionase deficiency |
| Mental retardation, X-linked, syndromic 14 |
| ?Mitochondrial complex III deficiency, nuclear type 7 |
| ?Mitochondrial complex III deficiency, nuclear type 9 |
| Mitochondrial complex III deficiency, nuclear type 3 |
| Mitochondrial complex III deficiency, nuclear type 5 |
| Mitochondrial complex III deficiency, nuclear type 4 |
| ?Urocanase deficiency |
| Porphyria cutanea tarda; Porphyria, hepatoerythropoietic |
| Porphyria, congenital erythropoietic |
| Poikiloderma with neutropenia |
| – |
| Usher syndrome, type 1G |
| Usher syndrome, type 2A; Retinitis pigmentosa 39 |
| Pseudo-TORCH syndrome 2 |
| Mental retardation 105 |
| Pituitary adenoma 4, ACTH-secreting, somatic |
| Mental retardation, X-linked 99; Mental retardation, X-linked 99, syndromic, female-restricted |
| UV-sensitive syndrome 3 |
| Striatonigral degeneration, childhood-onset |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| Combined oxidative phosphorylation deficiency 20 |
| ?Microphthalmia, syndromic 11 |
| Rickets, vitamin D-resistant, type IIA; ?Osteoporosis, involutional |
| von Hippel-Lindau syndrome; Renal cell carcinoma, somatic; Pheochromocytoma; Hemangioblastoma, cerebellar, somatic; Erythrocytosis, familial, 2 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 |
| Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| Myopathy, X-linked, with excessive autophagy |
| Leukodystrophy, hypomyelinating, 12 |
| Choreoacanthocytosis |
| Cohen syndrome |
| Parkinson disease 23, autosomal recessive, early onset |
| Mucopolysaccharidosis-plus syndrome |
| Arthrogryposis, renal dysfunction, and cholestasis 1 |
| Spastic paraplegia 53, autosomal recessive |
| Neutropenia, severe congenital, 5, autosomal recessive |
| Pontocerebellar hypoplasia, type 2E |
| Pontocerebellar hypoplasia type 1A |
| ?Spinocerebellar ataxia, autosomal recessive 22 |
| von Willebrand disease, types 2A, 2B, 2M, and 2N; von Willebrand disease, type 1; von Willibrand disease, type 3 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizure |
| Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked; Thrombocytopenia, X-linked, intermittent |
| Deafness, autosomal recessive 107 |
| ?Bardet-Biedl syndrome 15; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly |
| Nephronophthisis 13; ?Cranioectodermal dysplasia 4; ?Short-rib thoracic dysplasia 5 with or without polydactyly; Senior-Loken syndrome 8 |
| Short-rib thoracic dysplasia 11 with or without polydactyly |
| Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly |
| – |
| Short-rib thoracic dysplasia 8 with or without polydactyly |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
| Amelogenesis imperfecta, type IIA3 |
| Galloway-Mowat syndrome 1 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
| Wolfram syndrome 1; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome, autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}; ?Cataract 41 |
| Arthropathy, progressive pseudorheumatoid, of childhood; Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
| Pseudohypoaldosteronism, type IIC; Neuropathy, hereditary sensory and autonomic, type II |
| Osteogenesis imperfecta, type XV; {Osteoporosis, early-onset, susceptibility to, autosomal dominant} |
| Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 |
| Split-hand/foot malformation 6; Tooth agenesis, selective, 8 |
| ?Tetra-amelia syndrome |
| ?SERKAL syndrome, 611812 (3); Mullerian aplasia and hyperandrogenism |
| Ulna and fibula, absence of, with severe limb deficiency; Fuhrmann syndrome |
| Dyskeratosis congenita, autosomal recessive 3 |
| Werner syndrome |
| Esophageal squamous cell carcinoma, somatic; Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile |
| Xanthinuria, type I, |
| Lymphoproliferative syndrome, X-linked, 2 |
| Xeroderma pigmentosum, group A |
| Xeroderma pigmentosum, group C |
| Nephronophthisis-like nephropathy 1 |
| ?Spinocerebellar ataxia, autosomal recessive 26 |
| ?Fanconi anemia, complementation group U |
| Short stature, microcephaly, and endocrine dysfunction |
| {Pseudoxanthoma elasticum, modifier of severity of}; Desbuquois dysplasia 2 |
| {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3); Spondyloocular syndrome |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 |
| ?Optic atrophy 11 |
| Grange syndrome |
| Autoimmune disease, multisystem, infantile-onset, 2; Immunodeficiency 48 |
| Leukemia, acute promyelocytic, PL2F/RARA type; Skeletal defects, genital hypoplasia, and mental retardation |
| Immunodeficiency-centromeric instability-facial anomalies syndrome-2 |
| ?Lethal congenital contracture syndrome 6 |
| Mental retardation, autosomal recessive 56 |
| Wieacker-Wolff syndrome |
| Spastic paraplegia 15, autosomal recessive |
| Heterotaxy, visceral, 1, X-linked; Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3); VACTERL association, X-linked |
| Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy, lethal |
| Ciliary dyskinesia, primary, 22 |
| ?Spermatogenic failure 14 |
| ?Polydactyly, postaxial, type A6 |
| ?Microcephaly 10, primary, autosomal recessive |
| ?Exudative vitreoretinopathy 6; Retinitis pigmentosa 72, |
| Nephronophthisis 14; Joubert syndrome 19 |
| Brittle cornea syndrome 1 |
| ?Retinitis pigmentosa 58 |
| Oocyte maturation defect 1, |