ClinVar Miner

Variants by condition

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Gene type:
Total conditions: 25669
Total variants: 4519162
Total genes and gene combinations: 57201
Total submitters: 3419
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Filter Condition Variants Genes Submitters
not provided 1434192 29722 279
not specified 1300025 27559 114
Inborn genetic diseases 355109 4826 6
Hereditary cancer-predisposing syndrome 192537 242 59
Cardiovascular phenotype 90556 305 7
Ovarian serous cystadenocarcinoma 50773 14680 1
Thyroid cancer, nonmedullary, 1 46783 10567 7
Familial cancer of breast 42722 9804 137
See cases 26496 14628 118
Nonpapillary renal cell carcinoma 25862 7382 8
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 25082 28 1
Primary ciliary dyskinesia 25070 102 30
Hereditary breast ovarian cancer syndrome 24314 174 75
Uterine corpus endometrial carcinoma 23553 10927 1
Familial thoracic aortic aneurysm and aortic dissection 21909 79 29
Cervical cancer 19867 10124 5
Hereditary nonpolyposis colorectal neoplasms 19620 29 8
Cardiomyopathy 19288 158 40
Gastric cancer 18410 9321 12
Malignant tumor of esophagus 17217 9085 11
Acute myeloid leukemia 17126 8342 56
Fanconi anemia 16758 55 20
Lung cancer 16142 8796 18
Sarcoma 15795 8787 6
Ataxia-telangiectasia syndrome 14280 18 105
Early-infantile DEE 13977 18 1
Neurofibromatosis, type 1 13791 50 176
Long QT syndrome 13474 185 35
Hypertrophic cardiomyopathy 12841 142 55
Familial adenomatous polyposis 1 12356 13 82
Spastic paraplegia 12094 81 18
Hepatocellular carcinoma 11998 6958 12
Thymoma 11808 7378 1
Nemaline myopathy 2 11114 5 72
Melanoma 10977 6677 11
Retinal dystrophy 10697 394 23
Tuberous sclerosis 2 9831 26 102
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 9664 8 1
Breast-ovarian cancer, familial, susceptibility to, 1 9259 39 152
Malignant tumor of urinary bladder 8718 5674 9
Uterine carcinosarcoma 8571 5991 1
Duchenne muscular dystrophy 8552 23 89
Catecholaminergic polymorphic ventricular tachycardia 1 8092 20 52
Breast-ovarian cancer, familial, susceptibility to, 2 7773 32 141
RASopathy 7755 54 19
Bardet-Biedl syndrome 7553 64 35
RYR1-related disorder 7547 5 18
Charcot-Marie-Tooth disease type 2 7507 41 7
Cholangiocarcinoma 7092 5029 3
Bethlem myopathy 1A 6605 18 54
Colon adenocarcinoma 6500 4786 4
Joubert syndrome; Meckel-Gruber syndrome 6448 21 2
Alstrom syndrome 6322 5 90
Gastrointestinal stromal tumor 6255 18 30
Charcot-Marie-Tooth disease type 4 6088 36 7
Cohen syndrome 6056 13 96
Clear cell carcinoma of kidney 6026 4463 3
DICER1-related tumor predisposition 5847 4 24
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 5715 7 3
Dyskeratosis congenita 5605 34 15
Lynch syndrome 5560 28 32
Gorlin syndrome 5549 12 54
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 5546 11 1
Retinitis pigmentosa 5526 200 54
Cystic fibrosis 5452 36 110
Kabuki syndrome 5358 5 2
Papillary renal cell carcinoma type 1 5260 3390 22
Rhabdoid tumor predisposition syndrome 2 5241 4 26
Autosomal recessive polycystic kidney disease 5151 8 52
Malignant lymphoma, large B-cell, diffuse 5077 3769 4
Malignant hyperthermia, susceptibility to, 1 5054 12 59
Tuberous sclerosis syndrome 5010 6 22
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26 4965 2 1
Ehlers-Danlos syndrome, classic type, 1 4872 8 52
Baller-Gerold syndrome 4843 5 17
Neuroblastoma, susceptibility to, 3 4800 4 21
Colorectal cancer, susceptibility to, 10 4782 6 22
Epileptic encephalopathy 4743 77 21
Nephronophthisis 4736 42 9
Hereditary diffuse gastric adenocarcinoma 4690 7 52
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 4574 9 3
Charcot-Marie-Tooth disease axonal type 2O 4481 9 39
Familial cancer of breast; Fanconi anemia complementation group J 4432 5 6
LAMA2-related muscular dystrophy 4422 4 10
Tuberous sclerosis 1 4369 13 84
Familial hypercholesterolemia 4339 22 32
Polycystic kidney disease, adult type 4292 16 134
Bloom syndrome 4135 5 66
Cardiac arrhythmia 4026 42 19
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 4022 3 3
CHARGE syndrome 3987 20 119
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 3954 2 44
Brugada syndrome 3778 50 35
Neuronal ceroid lipofuscinosis 3771 29 10
Primary dilated cardiomyopathy 3736 175 67
Werner syndrome 3735 5 33
Jeune thoracic dystrophy 3660 35 6
Retinoblastoma 3624 17 54
Chédiak-Higashi syndrome 3611 7 40
Juvenile polyposis syndrome 3571 6 27
Hypercholesterolemia, familial, 1 3556 53 148
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 3470 8 2
Oligodontia-cancer predisposition syndrome 3453 4 31
Intellectual disability 3445 939 89
Colorectal cancer 3444 2345 45
Adams-Oliver syndrome 5 3434 12 35
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 3427 3 10
Wilson disease 3427 11 106
Leigh syndrome 3416 92 58
Marfan syndrome 3411 28 140
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 3402 4 10
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 3377 5 6
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 3362 7 5
Renal cell carcinoma 3322 7 6
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 3316 5 8
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 3287 6 1
Ellis-van Creveld syndrome; Curry-Hall syndrome 3283 8 7
Charcot-Marie-Tooth disease 3245 119 24
Multiple endocrine neoplasia, type 2 3225 5 14
Hereditary spastic paraplegia 11 3214 11 73
Glycine encephalopathy 3210 13 53
EGFR-related lung cancer 3155 2 3
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 3150 3 10
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 3143 9 1
Lynch syndrome 5 3091 7 72
Ovarian cancer 3043 1954 15
Congenital contractural arachnodactyly 3027 3 56
Lynch syndrome 1 2980 22 79
Microcephaly, normal intelligence and immunodeficiency 2980 7 43
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2971 11 6
Ehlers-Danlos syndrome, type 4 2954 7 74
Hereditary pancreatitis 2917 19 50
Progressive sclerosing poliodystrophy 2893 8 36
Glycogen storage disease, type II 2883 7 96
Catecholaminergic polymorphic ventricular tachycardia 2834 18 16
Glycogen storage disease type III 2822 3 61
Osteogenesis imperfecta type I 2818 10 71
Familial pancreatic carcinoma 2810 2163 5
Joubert syndrome 2782 45 22
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2730 9 2
Severe combined immunodeficiency due to DNA-PKcs deficiency 2726 6 17
Dilated cardiomyopathy 1G 2717 25 91
Propionic acidemia 2714 8 66
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2683 4 6
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2677 6 1
MHC class II deficiency 2630 16 27
Squamous cell carcinoma of the head and neck 2628 2152 7
BAP1-related tumor predisposition syndrome 2591 5 32
Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paraganglioma syndrome 5 2580 1 3
Li-Fraumeni syndrome 2575 12 26
Niemann-Pick disease, type C1 2558 9 77
Hereditary pheochromocytoma and paraganglioma 2541 20 23
Usher syndrome type 2A 2513 6 90
Familial adenomatous polyposis 2 2484 8 65
Aortic aneurysm, familial thoracic 4 2468 5 42
Multiple endocrine neoplasia, type 1 2442 8 67
Squamous cell lung carcinoma 2428 1966 4
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2371 1 6
Peroxisome biogenesis disorder 2350 21 17
Peutz-Jeghers syndrome 2350 13 55
Combined immunodeficiency due to DOCK8 deficiency 2330 12 40
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2283 3 1
KBG syndrome 2283 26 123
Vici syndrome 2280 5 48
Familial sleep-related hypermotor epilepsy 2277 19 8
Perlman syndrome 2266 8 26
Autosomal recessive limb-girdle muscular dystrophy type 2J 2250 21 45
Congenital myasthenic syndrome 8 2229 8 37
Alpha thalassemia-X-linked intellectual disability syndrome 2228 7 43
Early-onset myopathy with fatal cardiomyopathy 2203 20 30
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2201 2 2
Zellweger spectrum disorders 2191 9 5
Kleefstra syndrome 1 2177 94 81
Birt-Hogg-Dube syndrome 2173 5 40
Tibial muscular dystrophy 2172 22 23
Myopathy, myofibrillar, 9, with early respiratory failure 2163 21 23
Combined immunodeficiency due to LRBA deficiency 2150 8 47
Uveal melanoma 2150 1843 4
Familial focal epilepsy with variable foci 2137 5 3
Hereditary spastic paraplegia 2128 114 26
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2127 7 11
PTEN hamartoma tumor syndrome 2120 15 39
Aortic aneurysm, familial thoracic 7 2115 7 39
Lymphoma 2109 1781 2
Colorectal cancer, hereditary nonpolyposis, type 2 2100 3 54
Maple syrup urine disease 2070 8 53
Breast and/or ovarian cancer 2065 28 4
Very long chain acyl-CoA dehydrogenase deficiency 2039 8 69
Hypertrophic cardiomyopathy 14 2009 9 25
Maturity-onset diabetes of the young 2003 20 21
Developmental and epileptic encephalopathy 94 1996 4 83
Pitt-Hopkins-like syndrome 2 1994 9 25
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 1990 3 4
Malignant tumor of breast 1986 73 18
Landau-Kleffner syndrome 1969 7 79
Dilated cardiomyopathy 1DD 1963 5 46
Hyperkalemic periodic paralysis 1949 6 21
Developmental and epileptic encephalopathy, 12 1948 10 21
Congenital hyperammonemia, type I 1940 2 46
Lynch syndrome 4 1939 7 66
Glioma susceptibility 1 1938 1632 9
Early Myoclonic Encephalopathy 1931 6 7
Familial melanoma 1931 17 9
Classic or attenuated familial adenomatous polyposis 1928 2 5
Neurofibromatosis, type 2 1923 6 49
Fanconi anemia complementation group A 1922 27 76
Imerslund-Grasbeck syndrome 1920 9 16
Pancreatic adenocarcinoma 1906 1106 2
Tumor predisposition syndrome 3 1905 2 20
Malignant hyperthermia, susceptibility to, 5 1888 1 17
Fabry disease 1879 7 76
Saldino-Mainzer syndrome 1872 10 32
Polycystic kidney disease 4 1862 4 74
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 1845 6 10
Brugada syndrome 8 1811 7 9
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 1808 2 1
Usher syndrome type 1 1806 12 56
Deficiency of alpha-mannosidase 1803 8 57
Leber congenital amaurosis 1784 68 25
CFTR-related disorder 1778 7 11
Ehlers-Danlos syndrome, dermatosparaxis type 1774 5 25
Autosomal recessive limb-girdle muscular dystrophy type 2A 1757 7 76
Multiple acyl-CoA dehydrogenase deficiency 1746 5 50
Charlevoix-Saguenay spastic ataxia 1732 3 80
Adrenocortical carcinoma, hereditary 1719 1403 5
Neoplasm 1717 316 2
Walker-Warburg congenital muscular dystrophy 1707 9 5
Cornelia de Lange syndrome 1 1700 13 101
Fanconi anemia complementation group O 1687 6 14
Arrhythmogenic right ventricular cardiomyopathy 1677 49 32
Progressive familial heart block type IB 1665 3 23
Dilated cardiomyopathy 1O 1660 3 14
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 1655 5 7
Breast-ovarian cancer, familial, susceptibility to, 4 1654 6 36
Immunodeficiency 104 1651 6 29
Arrhythmogenic right ventricular dysplasia 9 1640 18 70
Nephrolithiasis/nephrocalcinosis 1637 7 2
Familial hemophagocytic lymphohistiocytosis 3 1634 3 38
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1633 1 22
Rubinstein-Taybi syndrome 1630 11 7
Retinitis pigmentosa 12; Leber congenital amaurosis 8 1624 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 1616 1338 1
Tramadol response 1610 17 1
Mucopolysaccharidosis type 1 1608 10 19
FG syndrome 1598 3 2
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1595 1 6
Familial cold autoinflammatory syndrome 3 1585 2 10
Cortical dysplasia-focal epilepsy syndrome 1584 8 31
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1583 20 11
Phenylketonuria 1570 9 100
Developmental and epileptic encephalopathy, 23 1567 4 27
Monogenic diabetes 1558 52 10
Endometrial carcinoma 1553 39 25
Adrenoleukodystrophy 1551 11 84
Arrhythmogenic right ventricular dysplasia 10 1541 6 38
Chuvash polycythemia; Von Hippel-Lindau syndrome 1538 6 2
Hajdu-Cheney syndrome 1537 4 26
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 1535 6 1
Noonan syndrome 9 1534 4 37
Alagille syndrome due to a JAG1 point mutation 1533 9 70
Retinitis pigmentosa 39 1533 2 36
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 1519 1 9
Brachyolmia-amelogenesis imperfecta syndrome 1516 8 15
Alport syndrome 1510 9 25
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 1502 5 3
Intellectual disability, autosomal dominant 5 1495 7 96
Parathyroid carcinoma 1495 6 6
Glycogen storage disease, type V 1489 2 63
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 1488 4 4
Autoinflammatory syndrome 1482 43 4
Myopathy, proximal, and ophthalmoplegia 1479 8 40
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 1456 5 8
Nephronophthisis 15 1448 3 21
Intellectual disability, autosomal dominant 1 1444 14 50
Dilated cardiomyopathy 1JJ 1441 2 27
Hereditary sensory neuropathy-deafness-dementia syndrome 1433 6 17
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1430 10 33
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 1419 4 2
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 1411 3 12
Galactosylceramide beta-galactosidase deficiency 1407 6 71
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1401 7 62
Hereditary hemorrhagic telangiectasia 1383 5 12
Hereditary insensitivity to pain with anhidrosis 1382 5 41
Pyruvate carboxylase deficiency 1376 4 34
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 1375 3 6
Epidermodysplasia verruciformis 1374 11 2
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 1372 4 5
TTN-related disorder 1368 21 12
Metachromatic leukodystrophy 1364 12 79
Cone-rod dystrophy 6; Leber congenital amaurosis 1 1363 3 3
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 1363 3 1
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1361 2 6
Mucopolysaccharidosis, MPS-II 1361 7 65
Capillary malformation-arteriovenous malformation syndrome 1358 5 5
Connective tissue disorder 1356 86 6
Wilms tumor 1 1354 7 28
Hereditary spastic paraplegia 49 1352 3 29
Arrhythmogenic right ventricular dysplasia 11 1351 3 43
Dilated cardiomyopathy 1W 1350 2 9
Li-Fraumeni syndrome 1 1349 5 66
Acrocallosal syndrome 1345 3 25
Retinitis pigmentosa 25 1334 8 61
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 1332 1 4
Colorectal cancer, hereditary nonpolyposis, type 7 1325 2 16
Left ventricular noncompaction 8 1322 4 26
X-linked Alport syndrome 1322 7 104
Facioscapulohumeral muscular dystrophy 2 1319 4 16
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 1317 2 8
Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 1314 4 3
Prostate cancer, hereditary, 1 1307 9 9
Idiopathic generalized epilepsy 1306 16 8
Dystonic disorder 1303 26 14
Familial intrahepatic cholestasis 1298 6 1
Familial cold autoinflammatory syndrome 2 1295 3 40
Mucolipidosis type II; Pseudo-Hurler polydystrophy 1294 1 7
Mowat-Wilson syndrome 1293 4 84
Gorlin syndrome; Medulloblastoma 1292 4 1
Developmental and epileptic encephalopathy, 9 1279 7 63
Progressive myoclonic epilepsy 1279 20 4
Tay-Sachs disease 1275 6 67
Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma 1263 6 2
Polyglandular autoimmune syndrome, type 1 1262 8 44
Hereditary spastic paraplegia 39 1257 4 21
PCNT-related disorder 1257 2 1
Aortic valve disease 2 1253 4 20
Beckwith-Wiedemann syndrome 1251 15 35
Donnai-Barrow syndrome 1247 2 43
Mucopolysaccharidosis, MPS-IV-A 1245 9 50
Genitopatellar syndrome 1241 4 28
Severe myoclonic epilepsy in infancy 1238 16 88
Congenital myasthenic syndrome 4A 1231 9 22
Renal carnitine transport defect 1231 9 61
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 1229 3 17
Pityriasis rubra pilaris; Psoriasis 2 1228 5 7
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1227 2 30
MHC class I deficiency 1223 7 17
Hereditary hemochromatosis 1220 6 4
Schimke immuno-osseous dysplasia 1219 3 36
Ehlers-Danlos syndrome 1217 39 13
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 1215 2 8
Dilated cardiomyopathy 1KK 1213 3 28
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 1211 2 4
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 1210 4 1
Fraser syndrome 1 1209 6 51
Hereditary spastic paraplegia 4 1203 19 97
Emery-Dreifuss muscular dystrophy 1200 13 8
Long QT syndrome 5 1193 1 14
Charcot-Marie-Tooth disease dominant intermediate B 1192 10 24
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 1189 3 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1186 8 45
Methylmalonic acidemia with homocystinuria, type cblX 1179 4 29
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 1178 3 1
Myofibrillar myopathy 4 1177 4 16
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1174 3 3
Neurodevelopmental disorder 1174 633 43
Charcot-Marie-Tooth disease, type I 1173 30 5
Mucopolysaccharidosis, MPS-III-A 1169 10 58
Neonatal-onset encephalopathy with rigidity and seizures 1166 2 22
Generalized epilepsy-paroxysmal dyskinesia syndrome 1159 3 26
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 1155 2 8
Autosomal recessive DOPA responsive dystonia 1151 5 43
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 1151 2 8
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 1143 1 5
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 1142 1 1
Familial hemophagocytic lymphohistiocytosis 5 1142 5 26
Familial hemiplegic migraine 1140 6 3
Koolen-de Vries syndrome 1137 10 64
DOCK2 deficiency 1136 6 15
Autosomal dominant polycystic kidney disease 1131 26 14
Glanzmann thrombasthenia 1130 9 13
Familial colorectal cancer 1127 26 12
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 1126 2 2
Joubert syndrome 21 1120 5 35
Rett syndrome 1119 11 114
Familial Mediterranean fever 1117 2 61
Intellectual disability, X-linked 1 1110 7 65
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 1100 3 5
Cholestanol storage disease 1098 3 55
Severe neonatal-onset encephalopathy with microcephaly 1097 14 20
Desmin-related myofibrillar myopathy 1093 6 45
Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 1093 1 1
Developmental and epileptic encephalopathy, 36 1082 5 31
Diamond-Blackfan anemia 1082 34 12
Severe combined immunodeficiency due to DCLRE1C deficiency 1082 7 22
Autosomal recessive limb-girdle muscular dystrophy type 2B 1080 6 64
Dystonia 12 1080 3 25
Jeune thoracic dystrophy; Nephronophthisis 1080 2 1
Supravalvar aortic stenosis 1078 3 34
Ataxia-telangiectasia-like disorder 1075 2 3
Lethal multiple pterygium syndrome 1069 9 19
Creatine transporter deficiency 1067 8 70
Primary ciliary dyskinesia 3 1066 13 64
Combined oxidative phosphorylation defect type 17 1064 1 24
Carnitine palmitoyl transferase 1A deficiency 1055 2 31
Charcot-Marie-Tooth disease axonal type 2C 1051 3 29
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 1051 6 5
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 1048 5 1
Glycogen storage disease IXb 1048 4 29
Hypercholesterolemia, autosomal dominant, 3 1048 3 35
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 1047 1 1
Hypertrophic cardiomyopathy 1 1046 39 88
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 1037 2 2
Smith-Lemli-Opitz syndrome 1037 5 76
Developmental and epileptic encephalopathy, 30 1034 7 19
Familial meningioma 1033 19 19
Ehlers-Danlos syndrome, kyphoscoliotic type 1 1031 6 35
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1027 5 53
Familial dysautonomia 1024 1 23
Glucose-6-phosphate transport defect 1023 3 32
Blau syndrome; Regional enteritis 1022 3 1
Methylcobalamin deficiency type cblG 1022 4 17
Autosomal dominant Parkinson disease 8 1017 2 33
Multiple congenital exostosis 1016 7 20
Developmental and epileptic encephalopathy 1015 106 31
Pyridoxine-dependent epilepsy 1013 9 57
Carnitine palmitoyltransferase II deficiency 1010 2 15
Mosaic variegated aneuploidy syndrome 1 1008 8 21
Carney complex, type 1 1003 4 14
Primary familial hypertrophic cardiomyopathy 1002 93 17
BRCA2-related cancer predisposition 1000 5 7
Cowden syndrome 1 998 8 78
Multiple gastrointestinal atresias 991 4 13
Medium-chain acyl-coenzyme A dehydrogenase deficiency 979 3 63
Telangiectasia, hereditary hemorrhagic, type 2 978 2 52
Intellectual disability, autosomal recessive 53 973 7 27
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 973 4 9
Congenital long QT syndrome 972 36 14
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 968 1 3
Kabuki syndrome 1 968 13 139
Holocarboxylase synthetase deficiency 967 4 31
VPS13B-related disorder 967 3 1
Benign neonatal seizures 962 3 2
Developmental and epileptic encephalopathy, 54 961 9 55
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 959 2 8
Glycogen storage disease, type VII 958 2 23
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 957 2 1
Loeys-Dietz syndrome 2 957 5 48
Kabuki syndrome 2 955 8 66
Congenital muscular dystrophy due to integrin alpha-7 deficiency 954 4 23
Herpes simplex encephalitis, susceptibility to, 1 954 5 8
Ellis-van Creveld syndrome 953 10 54
Immunodeficiency 14 953 5 38
Immunodeficiency 35 948 3 19
Xanthinuria type II 948 4 13
Dextro-looped transposition of the great arteries 946 3 7
Mucopolysaccharidosis type 6 945 6 45
Combined malonic and methylmalonic acidemia 939 2 31
Familial infantile myasthenia 938 3 31
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 937 2 1
Shprintzen-Goldberg syndrome 935 4 38
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 934 5 1
Sotos syndrome 932 12 104
Epilepsy, familial focal, with variable foci 3 928 4 36
Hyperphosphatasia with intellectual disability syndrome 2 927 5 29
Lethal congenital glycogen storage disease of heart 927 6 6
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 927 3 2
MEGF10-related myopathy 926 1 15
Arrhythmogenic right ventricular dysplasia 13 925 5 17
2-aminoadipic 2-oxoadipic aciduria 923 3 22
Cone-rod dystrophy 13; Leber congenital amaurosis 6 923 3 5
Pitt-Hopkins syndrome 922 7 79
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 921 5 26
Glutaric aciduria, type 1 919 7 73
Peroxisome biogenesis disorder 2B 914 6 9
Autosomal recessive nonsyndromic hearing loss 3 910 5 82
Dilated cardiomyopathy 1J 910 3 6
Aicardi-Goutieres syndrome 5 908 4 23
Developmental and epileptic encephalopathy, 34 906 3 19
Hereditary spastic paraplegia 7 904 8 85
Von Hippel-Lindau syndrome 903 9 60
Osteogenesis imperfecta 902 38 36
Autoimmune interstitial lung disease-arthritis syndrome 901 5 20
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 901 2 23
Mucolipidosis type IV 901 6 37
Hereditary spastic paraplegia 48 900 6 28
Usher syndrome type 1F 896 4 24
Arrhythmogenic right ventricular dysplasia 5 893 1 16
Epidermolysis bullosa dystrophica 888 2 9
Familial prostate cancer 886 757 11
Finnish congenital nephrotic syndrome 886 13 67
Infantile neuroaxonal dystrophy 886 3 35
DYRK1A-related intellectual disability syndrome 881 7 76
Argininosuccinate lyase deficiency 880 5 57
Neuronal ceroid lipofuscinosis 7 880 9 41
Immunodeficiency 51 879 7 19
Autosomal recessive limb-girdle muscular dystrophy type R18 878 2 24
Muscular dystrophy-dystroglycanopathy type B6 875 5 7
ALG1-congenital disorder of glycosylation 874 4 36
Methylcobalamin deficiency type cblE 874 3 18
Cryopyrin associated periodic syndrome 872 3 7
Usher syndrome type 1B 872 1 5
Exostoses, multiple, type 2 871 4 39
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 869 9 1
Congenital factor V deficiency 867 2 16
Hereditary spherocytosis type 1 865 5 54
Multiple endocrine neoplasia type 4 863 6 25
3-methylcrotonyl-CoA carboxylase 1 deficiency 862 3 32
DiGeorge syndrome 862 20 23
PHGDH deficiency 857 3 16
Congenital muscular hypertrophy-cerebral syndrome 854 6 49
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 852 1 5
Familial hypokalemia-hypomagnesemia 852 5 80
Luscan-Lumish syndrome 852 4 36
Niemann-Pick disease, type B; Niemann-Pick disease, type A 852 3 13
Osteogenesis imperfecta type 8 852 2 39
Majeed syndrome 850 4 24
Atypical hemolytic-uremic syndrome 849 33 11
Familial acute necrotizing encephalopathy 849 7 25
PKD1-related disorder 849 4 2
Breast-ovarian cancer, familial, susceptibility to, 3 848 7 37
Charcot-Marie-Tooth disease axonal type 2Z 846 1 33
Nephronophthisis 14 845 3 17
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 844 3 3
Autosomal recessive nonsyndromic hearing loss 77 843 1 49
Hermansky-Pudlak syndrome 2 841 4 25
Charcot-Marie-Tooth disease axonal type 2P 840 2 38
Adenylosuccinate lyase deficiency 839 3 42
GNE myopathy; Sialuria 839 1 7
Candidiasis, familial, 9 838 7 12
Leber congenital amaurosis 2; Retinitis pigmentosa 20 838 2 4
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 837 4 1
VPS13A-related neurodegenerative disease 836 4 42
GLUT1 deficiency syndrome 1, autosomal recessive 835 5 2
Acyl-CoA oxidase deficiency 833 3 23
COG5-congenital disorder of glycosylation 832 9 22
Leukocyte adhesion deficiency 1 831 1 25
Epilepsy, familial adult myoclonic, 5 829 3 17
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 829 3 45
Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 829 2 1
Sandhoff disease 828 4 58
Immunodeficiency 827 12 9
Cranioectodermal dysplasia 1 822 5 27
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 821 3 13
Colorectal cancer, susceptibility to, 12 819 4 30
KMT2D-related disorder 819 2 4
Legius syndrome 817 5 43
Lysinuric protein intolerance 817 7 32
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 816 4 1
Epilepsy with myoclonic atonic seizures 816 9 59
Infantile-onset ascending hereditary spastic paralysis 814 2 22
Brody myopathy 813 5 22
Citrullinemia 810 6 7
Sphingolipid activator protein 1 deficiency 810 3 16
Angelman syndrome 808 18 73
Fanconi anemia complementation group P 808 2 33
ALG6-congenital disorder of glycosylation 1C 805 3 26
Carcinoma of colon 804 64 15
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 804 5 2
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 802 1 12
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 801 2 36
Rare genetic deafness 801 91 2
Epilepsy 800 89 24
Immunodeficiency, common variable, 10 798 9 27
Congenital disorder of deglycosylation 797 3 20
Mitochondrial complex I deficiency, nuclear type 1 796 38 24
Tyrosinemia type I 796 4 40
Developmental and epileptic encephalopathy, 31A 794 11 42
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 790 4 12
Hereditary factor VIII deficiency disease 789 18 58
Succinate-semialdehyde dehydrogenase deficiency 788 5 46
Atrioventricular septal defect 4 785 4 6
Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 785 3 6
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 784 5 33
PMM2-congenital disorder of glycosylation 784 5 85
Autosomal recessive Alport syndrome 783 6 65
Fibrous dysplasia of jaw 783 6 23
Hereditary pulmonary alveolar proteinosis 781 3 2
Joubert syndrome; Orofaciodigital syndrome I 781 5 1
Fanconi anemia complementation group E 777 2 21
Hyperekplexia 3 776 1 28
Multiple sulfatase deficiency 776 5 35
Short-rib thoracic dysplasia 6 with or without polydactyly 774 18 27
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 773 5 1
Usher syndrome type 2A; Retinitis pigmentosa 39 773 3 15
3-methylcrotonyl-CoA carboxylase 2 deficiency 772 2 44
Treacher Collins syndrome 1 770 7 49
Gamma-aminobutyric acid transaminase deficiency 769 5 19
Immunodeficiency, common variable, 7 769 5 20
Pyruvate dehydrogenase E1-alpha deficiency 767 5 70
ALG9 congenital disorder of glycosylation 763 8 14
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 763 4 27
Schuurs-Hoeijmakers syndrome 758 2 49
Autosomal recessive limb-girdle muscular dystrophy type 2D 757 3 49
Pheochromocytoma/paraganglioma syndrome 5 757 2 32
Severe combined immunodeficiency due to IKK2 deficiency 757 5 15
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 756 10 63
Mucopolysaccharidosis, MPS-III-D 755 3 21
Charcot-Marie-Tooth Neuropathy X 754 4 1
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency 753 1 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 753 6 53
Anauxetic dysplasia 750 4 1
Autosomal recessive nonsyndromic hearing loss 4 750 5 62
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 748 3 3
Giant axonal neuropathy 1 746 4 36
Prostate cancer 746 463 29
FOXG1 disorder 745 6 72
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 744 4 2
Isovaleryl-CoA dehydrogenase deficiency 744 1 42
Deficiency of acetyl-CoA acetyltransferase 743 4 41
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 741 6 1
Chromosome 2q32-q33 deletion syndrome 740 6 73
Collagen 6-related myopathy 737 6 12
Cystinuria 735 6 75
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 734 1 9
Ornithine carbamoyltransferase deficiency 734 7 67
DNA ligase IV deficiency 733 1 37
Immunodeficiency 39 733 3 11
Polycystic kidney disease 731 16 16
Severe X-linked myotubular myopathy 728 7 44
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 728 7 43
Dyskeratosis congenita, autosomal dominant 6 726 3 15
Ichthyosis linearis circumflexa 725 2 2
Biotinidase deficiency 724 4 75
3-methylglutaconic aciduria, type VIIB 723 6 22
Autosomal recessive ataxia, Beauce type 723 6 48
Long QT syndrome 1 722 18 82
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 722 3 26
Haddad syndrome 721 3 3
Asphyxiating thoracic dystrophy 3 719 13 65
Combined oxidative phosphorylation defect type 27 719 3 21
Polycystic kidney disease 2 717 6 72
Beta-D-mannosidosis 716 7 32
Developmental and epileptic encephalopathy, 1; not provided; Autosomal dominant nonsyndromic hearing loss 65 714 2 1
Microcephaly 5, primary, autosomal recessive 713 4 70
Distal hereditary motor neuropathy type 2 712 3 6
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 712 4 6
Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 710 1 1
Neuronal ceroid lipofuscinosis 1 710 4 55
Autosomal recessive limb-girdle muscular dystrophy 708 23 10
Developmental and epileptic encephalopathy, 26 708 5 48
Lowe syndrome 708 4 46
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 705 4 2
Hypophosphatasia 703 2 19
Congenital myasthenic syndrome 702 24 19
Transcobalamin II deficiency 699 2 25
MEGF8-related Carpenter syndrome 698 4 22
Citrin deficiency 697 2 2
Myopathy, centronuclear, 2 697 8 16
Achondrogenesis, type IA 695 2 17
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 695 1 12
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 692 4 23
Peroxisome biogenesis disorder, complementation group 7 689 3 1
Myasthenic syndrome, congenital, 22 686 2 25
CREBBP-related disorder 684 5 4
Noonan syndrome 684 31 36
Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3 683 4 1
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 682 3 5
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 681 4 2
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related 679 4 1
Pulmonary hypertension, primary, 1 678 16 29
Hereditary nonpolyposis colon cancer 676 14 12
Developmental and epileptic encephalopathy, 25 675 4 31
Nemaline myopathy 6 675 4 26
Brugada syndrome 4 674 1 25
Granulomatous disease, chronic, X-linked 673 8 34
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 670 3 7
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 668 2 2
Mucopolysaccharidosis type 7 668 3 41
Brugada syndrome 1 667 13 57
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 667 4 1
Cowden syndrome 667 10 14
Microcephalic osteodysplastic primordial dwarfism type II 667 3 55
Ornithine aminotransferase deficiency 666 4 27
Intellectual disability, autosomal dominant 16 664 1 33
Aortic valve disease 1 663 14 31
Familial hemophagocytic lymphohistiocytosis 2 660 4 45
Pigmentary pallidal degeneration 657 7 47
EP300-related disorder 656 3 4
Androgen resistance syndrome; Kennedy disease 655 2 1
Familial isolated arrhythmogenic right ventricular dysplasia 655 10 8
Mitochondrial disease 653 138 26
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 651 3 32
Danon disease 651 3 35
PLXNA1-related disorder 650 2 1
Autoimmune lymphoproliferative syndrome type 1 646 9 30
Isolated focal cortical dysplasia type II 646 5 16
Osteogenesis imperfecta type 7 645 4 27
Isolated microphthalmia 5 643 2 14
X-linked agammaglobulinemia with growth hormone deficiency 643 5 7
Fanconi anemia complementation group I 640 2 24
Hyperammonemia, type III 639 2 26
Developmental and epileptic encephalopathy, 18 638 5 42
Episodic ataxia type 1 638 5 32
Myoclonic dystonia 11 636 5 44
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 635 7 23
Pendred syndrome 635 7 46
Autosomal dominant limb-girdle muscular dystrophy type 1F 632 4 21
Pyruvate dehydrogenase E3 deficiency 632 3 31
Aortic aneurysm, familial thoracic 8 628 3 12
Biotin-responsive basal ganglia disease 628 2 48
RAI1-related disorder 628 1 1
Tatton-Brown-Rahman overgrowth syndrome 626 11 55
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 623 1 9
Neutral lipid storage myopathy 622 4 23
Charcot-Marie-Tooth disease type 4C 621 3 55
Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 620 2 1
Deficiency of malonyl-CoA decarboxylase 620 7 21
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 620 5 4
Autosomal recessive nonsyndromic hearing loss 12 616 6 36
CEP290-related disorder 615 3 12
Severe early-childhood-onset retinal dystrophy 613 13 76
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 612 5 16
Congenital myopathy with internal nuclei and atypical cores 611 1 13
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 611 3 14
Desbuquois dysplasia 1 610 8 16
PLXNA3-related disorder 607 1 1
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 606 1 7
Autism spectrum disorder 606 352 36
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 606 4 3
Loeys-Dietz syndrome 4 606 11 42
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 606 3 7
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 603 3 6
Orofaciodigital syndrome type 6; Joubert syndrome 17 603 2 11
Amelocerebrohypohidrotic syndrome 602 2 22
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 601 5 6
MELAS syndrome 600 40 22
Fanconi anemia complementation group D2 599 6 35
Alkaptonuria 598 3 38
Costello syndrome 597 8 54
Peroxisome biogenesis disorder 9B 597 2 10
Salla disease 596 8 21
Citalopram response 595 2 1
Escitalopram response 595 2 1
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 595 3 7
Sertraline response 595 2 1
Voriconazole response 595 2 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 593 4 19
Infantile-onset X-linked spinal muscular atrophy 593 4 15
Methylmalonic aciduria, cblA type 590 3 34
Cobalamin C disease 589 10 69
Eichsfeld type congenital muscular dystrophy 589 2 42
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 589 2 6
Usher syndrome type 1D 588 6 44
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 587 5 51
Juvenile myelomonocytic leukemia 587 11 13
Usher syndrome type 3B 586 4 6
Arginine:glycine amidinotransferase deficiency 584 6 14
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 583 2 4
Intellectual disability, CASK-related, X-linked 583 4 2
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 583 3 23
Aplastic anemia 579 12 8
Atrioventricular septal defect 5 579 2 5
Hereditary leiomyomatosis and renal cell cancer 579 1 37
Neuropathy, hereditary sensory and autonomic, type 1C 579 3 21
Congenital multicore myopathy with external ophthalmoplegia 578 6 47
Episodic kinesigenic dyskinesia 577 10 3
PLXNA4-related disorder 577 1 1
Mitochondrial trifunctional protein deficiency 576 5 24
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 576 6 1
Amyotrophic lateral sclerosis type 21 575 4 12
Cerebral cavernous malformation 575 10 44
Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 575 2 7
Glycogen storage disease IXd 574 2 28
TP63-Related Spectrum Disorders 574 3 5
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 573 7 1
Predisposition to invasive fungal disease due to CARD9 deficiency 573 4 12
Primary ciliary dyskinesia 7 572 6 57
Wolfram syndrome 1 572 2 46
Deficiency of aromatic-L-amino-acid decarboxylase 571 1 36
EBV-positive nodal T- and NK-cell lymphoma 571 512 1
Leber congenital amaurosis 13 571 5 36
PRPH2-related disorder 571 3 7
Autoimmune lymphoproliferative syndrome type 2A 570 2 14
Birt-Hogg-Dube syndrome 1 570 2 24
X-linked Emery-Dreifuss muscular dystrophy 570 10 21
Left ventricular noncompaction 1 568 10 20
Multiple endocrine neoplasia type 2A 568 7 32
Familial cancer of breast; Ataxia-telangiectasia syndrome 567 2 14
Axenfeld-Rieger syndrome type 3 565 9 31
Hypertrophic cardiomyopathy 4 565 10 89
Hypohidrotic X-linked ectodermal dysplasia 564 2 41
MPI-congenital disorder of glycosylation 564 2 25
Menkes kinky-hair syndrome 564 4 44
PLXNA2-related disorder 564 1 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 563 5 1
Usher syndrome type 2C 563 8 55
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 562 4 3
Atrial septal defect 7 561 4 15
Erythrocytosis, familial, 3 560 3 6
Junctional epidermolysis bullosa gravis of Herlitz 560 7 25
Fanconi anemia complementation group C 559 4 45
Usher syndrome 559 39 24
Compton-North congenital myopathy 558 2 11
Noonan syndrome and Noonan-related syndrome 557 25 2
Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 556 6 1
Brugada syndrome 5 555 2 8
Arthrogryposis multiplex congenita 6 554 3 16
Immunodeficiency 23 554 4 17
Leukocyte adhesion deficiency 3 553 4 17
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 552 4 14
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 552 2 4
Primary hyperoxaluria, type I 551 3 52
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 550 3 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8 549 2 4
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 549 1 8
Deficiency of ferroxidase 548 3 28
Peroxisome biogenesis disorder 11A (Zellweger) 548 4 6
Autosomal recessive limb-girdle muscular dystrophy type 2E 547 4 38
Arginase deficiency 545 3 34
Lymphoproliferative syndrome 1 544 3 17
Coffin-Siris syndrome 1 543 25 111
Cerebral creatine deficiency syndrome 541 5 3
Charcot-Marie-Tooth disease dominant intermediate C 541 6 15
Congenital myasthenic syndrome 12 541 3 24
Methylmalonic aciduria, cblB type 541 3 38
MOGS-congenital disorder of glycosylation 539 3 19
Spastic ataxia 2 539 4 29
Hereditary spastic paraplegia 3A 538 3 40
Susceptibility to mononeuropathy of the median nerve, mild 536 3 7
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 535 2 2
Progressive familial intrahepatic cholestasis type 2 534 3 35
Autosomal recessive limb-girdle muscular dystrophy type 2F 533 1 13
Deficiency of galactokinase 533 4 22
Hearing impairment 533 142 22
Inflammatory skin and bowel disease, neonatal, 1 533 2 13
Weaver syndrome 531 5 35
Isolated cryptophthalmia; Fraser syndrome 2 530 2 5
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 529 1 15
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation 529 1 7
Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 528 3 4
Bardet-Biedl syndrome 14 526 4 15
Pheochromocytoma 526 20 44
Primary pulmonary hypertension 526 4 2
Atrial fibrillation, familial, 7 524 2 18
Combined deficiency of sialidase AND beta galactosidase 524 4 27
Congenital myasthenic syndrome 5 524 1 38
Deficiency of adenosine deaminase 2 524 4 36
Hereditary fructosuria 524 5 49
Melanoma, cutaneous malignant, susceptibility to, 5 524 3 6
RFT1-congenital disorder of glycosylation 524 3 27
Aspartylglucosaminuria 523 1 35
TNF receptor-associated periodic fever syndrome (TRAPS) 523 3 29
Charcot-Marie-Tooth disease type 2E 522 5 17
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 522 3 9
Paroxysmal nonkinesigenic dyskinesia 521 6 1
ALG12-congenital disorder of glycosylation 520 6 24
Autosomal recessive limb-girdle muscular dystrophy type 2C 520 8 41
FGFR2-related craniosynostosis 520 4 5
Bardet-Biedl syndrome 1 519 19 66
H syndrome 519 3 30
Leber congenital amaurosis 4 519 3 19
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 519 2 7
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 518 3 1
Aicardi-Goutieres syndrome 4 515 4 26
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 515 3 18
Oculofaciocardiodental syndrome 515 4 45
Pontocerebellar hypoplasia type 1A 515 3 23
Primary ciliary dyskinesia 23 515 3 22
Retinitis pigmentosa 59 515 3 16
Polyglucosan body myopathy type 1 513 5 24
Sucrase-isomaltase deficiency 513 1 30
COG7 congenital disorder of glycosylation 512 4 21
Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 510 1 4
Rienhoff syndrome 510 3 19
Combined oxidative phosphorylation defect type 14 509 7 23
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 509 3 5
BRCA2-related disorder 508 2 9
Hypercholesterolemia, familial, 4 508 4 20
Mosaic variegated aneuploidy syndrome 2 508 3 12
3-Methylglutaconic aciduria type 2 507 7 30
Arterial tortuosity syndrome 507 1 32
Hepatic veno-occlusive disease-immunodeficiency syndrome 507 3 18
Lethal Kniest-like syndrome 507 3 19
Epilepsy, progressive myoclonic, 1B 506 6 23
Cardiac arrhythmia, ankyrin-B-related 505 3 38
Histiocytic medullary reticulosis 505 6 22
Weill-Marchesani syndrome 505 9 3
NIK deficiency 503 2 1
Bronchiectasis with or without elevated sweat chloride 1 502 6 15
Central core myopathy 501 13 64
Hyperinsulinemic hypoglycemia, familial, 1 501 8 54
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 500 8 22
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 499 1 29
Woodhouse-Sakati syndrome 499 2 25
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 498 2 14
Deficiency of hydroxymethylglutaryl-CoA lyase 498 4 32
Autosomal recessive nonsyndromic hearing loss 2 496 1 36
Cowden syndrome 6 496 2 9
Nemaline myopathy 8 496 1 27
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 496 3 6
Combined immunodeficiency due to ZAP70 deficiency 495 1 10
Merosin deficient congenital muscular dystrophy 494 3 65
Short-rib thoracic dysplasia 11 with or without polydactyly 494 4 17
Schwartz-Jampel syndrome 493 3 15
Wolman disease 493 2 12
Arteriohepatic dysplasia 492 1 5
Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 492 3 2
Growth delay due to insulin-like growth factor I resistance 491 4 46
Aicardi-Goutieres syndrome 2 490 3 51
Autosomal recessive osteopetrosis 1 490 3 49
Congenital glucose-galactose malabsorption 490 2 16
IFT172-related disorder 489 4 3
Hypokalemic periodic paralysis, type 1 488 5 34
Spongy degeneration of central nervous system 488 6 40
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 487 4 1
Muscle AMP deaminase deficiency 485 1 18
GNAS-related disorder 484 1 6
Sulfite oxidase deficiency 484 1 33
Neuropathy, hereditary sensory, type 1F 483 3 12
Peroxisome biogenesis disorder 3A (Zellweger) 483 3 14
Actin accumulation myopathy 481 7 40
Disorders of Intracellular Cobalamin Metabolism 481 14 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 481 2 18
Infantile spasms 481 7 5
Familial X-linked hypophosphatemic vitamin D refractory rickets 480 7 54
Hereditary spastic paraplegia 15 480 1 47
Age related macular degeneration 1 479 4 10
Joubert syndrome 3 479 3 42
Baraitser-Winter syndrome 1 478 3 57
Brown-Vialetto-van Laere syndrome 2 478 4 32
Orofacial-digital syndrome IV; Joubert syndrome 18 478 3 3
Aniridia 1; Irido-corneo-trabecular dysgenesis 477 7 2
Holoprosencephaly 11 476 3 14
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 476 5 2
Neurodegeneration with brain iron accumulation 5 476 6 75
Bardet-Biedl syndrome 10 475 3 53
X-linked severe combined immunodeficiency 473 4 35
Christianson syndrome 472 5 38
Developmental and epileptic encephalopathy, 33 472 12 23
Progressive myoclonic epilepsy type 5 472 1 5
X-linked myopathy with postural muscle atrophy 472 4 15
Martsolf syndrome; Warburg micro syndrome 2 471 3 3
Nephrotic syndrome, type 3 471 3 34
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 471 6 60
Hereditary hyperekplexia 470 3 2
Mucolipidosis type II 469 4 32
PKHD1-related disorder 467 2 1
Transitory neonatal diabetes mellitus 467 6 1
Agenesis of the corpus callosum with peripheral neuropathy 466 6 26
Charcot-Marie-Tooth disease type 2R 466 2 12
Cornelia de Lange syndrome 3 465 2 41
Syndromic multisystem autoimmune disease due to ITCH deficiency 465 2 12
Aortic aneurysm, familial thoracic 6 464 10 24
Gaucher disease 464 5 16
MUC16-related disorder 464 2 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 464 2 26
Ovarian neoplasm 464 34 22
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 462 1 3
Autosomal recessive nonsyndromic hearing loss 9 461 7 54
Peroxisome biogenesis disorder, complementation group K 460 3 1
Ulnar-mammary syndrome 460 2 25
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 459 2 7
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 459 2 30
GM3 synthase deficiency 459 7 22
Short-rib thoracic dysplasia 8 with or without polydactyly 459 2 17
Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 458 3 3
Autosomal recessive congenital ichthyosis 1 457 5 43
Bardet-Biedl syndrome; McKusick-Kaufman syndrome 457 2 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 457 5 20
Pierpont syndrome 457 3 19
Nance-Horan syndrome 456 2 17
Nephronophthisis 18 456 2 8
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 455 4 4
Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 454 1 1
Hereditary xanthinuria type 1 454 3 27
Deficiency of butyryl-CoA dehydrogenase 453 5 49
Familial adenomatous polyposis 4 453 3 24
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 453 7 47
Optic atrophy 453 164 10
Rafiq syndrome 453 7 33
Type 2 diabetes mellitus 453 46 46
Complex neurodevelopmental disorder 452 56 22
Progressive myoclonic epilepsy type 7 452 2 28
Hypertrophic cardiomyopathy 10 451 2 33
Nephronophthisis 4; Senior-Loken syndrome 4 451 1 5
Peroxisome biogenesis disorder 5A (Zellweger) 451 1 12
Inflammatory bowel disease 28 450 4 25
Primary ciliary dyskinesia 28 449 7 17
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 448 2 6
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 447 1 5
Tyrosinemia type II 447 3 17
Classic homocystinuria 446 2 56
Combined immunodeficiency due to MALT1 deficiency 446 3 18
Developmental and epileptic encephalopathy, 32 445 2 46
Joubert syndrome 20; Meckel syndrome, type 11 445 5 4
Alzheimer disease 444 18 16
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 444 3 24
Orthostatic hypotension 1 444 1 13
Seckel syndrome 1 444 4 18
Autosomal recessive inherited pseudoxanthoma elasticum 443 8 37
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 443 2 4
Joubert syndrome 14 443 6 21
Autosomal dominant limb-girdle muscular dystrophy type 1G 442 1 11
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 442 3 43
BRCA1-related cancer predisposition 441 2 2
Methylmalonic aciduria and homocystinuria type cblF 441 2 18
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 441 2 3
Rubinstein-Taybi syndrome due to CREBBP mutations 441 10 90
Nephronophthisis 16 440 2 18
Early-onset Lafora body disease 439 5 5
Telangiectasia, hereditary hemorrhagic, type 1 439 3 67
Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 438 2 4
Seizure 438 162 29
beta Thalassemia 438 7 49
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 437 4 4
Haim-Munk syndrome; Periodontitis, aggressive; Papillon-Lefèvre syndrome 436 3 4
Congenital myasthenic syndrome 2A 435 3 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 435 6 3
Noonan syndrome 4 435 3 64
Thrombophilia due to protein S deficiency, autosomal recessive 435 4 5
Dyskeratosis congenita, autosomal dominant 1 434 11 13
Dystonia 5; GTP cyclohydrolase I deficiency 434 5 2
Glycogen storage disease IXa1 433 2 45
Leber congenital amaurosis 3 433 3 24
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 433 3 13
Hermansky-Pudlak syndrome 432 15 9
Cutis laxa, autosomal recessive, type 1B 431 4 24
Kostmann syndrome 431 4 26
NF1-related disorder 431 4 6
Neonatal diabetes mellitus with congenital hypothyroidism 431 1 14
Wiedemann-Steiner syndrome 431 5 102
5-Oxoprolinase deficiency 430 3 18
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 430 1 22
Ethylmalonic encephalopathy 429 3 37
Leber congenital amaurosis 8 429 1 25
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 428 2 25
DK1-congenital disorder of glycosylation 427 2 11
KIDINS220-related disorder 427 1 2
Brown-Vialetto-van Laere syndrome 1 425 3 19
Hereditary cancer 425 107 6
Hereditary hyperinsulinism 425 3 1
Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 424 3 5
Fucosidosis 424 4 29
Occult macular dystrophy 424 3 28
Hereditary sensory and autonomic neuropathy type 1 423 2 3
Intestinal hypomagnesemia 1 423 3 30
Melanoma-pancreatic cancer syndrome 423 4 23
Nijmegen breakage syndrome-like disorder 423 3 35
Alpha-1-antitrypsin deficiency 421 1 53
Holoprosencephaly 3 421 8 33
Progressive myoclonic epilepsy type 3 421 4 30
Andersen Tawil syndrome; Short QT syndrome type 3 420 1 1
Hereditary antithrombin deficiency 420 16 41
Mitochondrial DNA depletion syndrome 13 420 2 40
Short-rib thoracic dysplasia 13 with or without polydactyly 419 2 9
Sitosterolemia 419 5 13
Myofibrillar myopathy 3 416 3 23
Herpes simplex encephalitis, susceptibility to, 3 414 6 6
Junctional epidermolysis bullosa 414 11 11
Peroxisome biogenesis disorder 12A (Zellweger) 412 2 11
Autosomal dominant epilepsy with auditory features 411 2 1
Autosomal recessive limb-girdle muscular dystrophy type 2Y 411 4 10
Niemann-Pick disease, type A 410 4 37
Hyperekplexia 2 409 1 15
LZTR1-related schwannomatosis 408 4 36
Achromatopsia 407 9 13
Amyotrophic lateral sclerosis type 4 407 3 33
Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 407 3 1
Holoprosencephaly 5 407 8 29
Mitochondrial complex IV deficiency, nuclear type 1 407 32 38
COG1 congenital disorder of glycosylation 406 6 17
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 406 4 55
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 405 5 4
Nemaline myopathy 10 405 2 21
Polyhydramnios, megalencephaly, and symptomatic epilepsy 405 3 12
Developmental and epileptic encephalopathy, 8 404 3 41
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 404 3 20
Autosomal dominant Alport syndrome 403 6 59
alpha Thalassemia 403 18 38
Congenital primary aphakia; Anterior segment dysgenesis 402 2 1
Deficiency of hyaluronoglucosaminidase 401 1 8
Upshaw-Schulman syndrome 401 3 31
X-linked lymphoproliferative disease due to XIAP deficiency 400 3 27
Charcot-Marie-Tooth disease type 4A 399 5 23
Autosomal dominant cerebellar ataxia 398 16 4
Hereditary spastic paraplegia 28 396 3 14
Herpes simplex encephalitis, susceptibility to, 4 396 1 7
Parkinsonism-dystonia, infantile 396 4 3
Stuve-Wiedemann syndrome 396 4 16
ANKRD1-related dilated cardiomyopathy 395 1 1
ATM-related disorder 395 2 5
Lafora disease 395 5 28
Fanconi anemia complementation group G 394 2 32
Hirschsprung disease, susceptibility to, 1 394 40 26
Xeroderma pigmentosum 394 14 7
Joubert syndrome 15 393 1 13
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 392 5 1
Developmental and epileptic encephalopathy, 14 392 3 37
Bardet-Biedl syndrome 2 390 3 41
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 390 8 4
Congenital disorder of glycosylation, type IAA 389 3 8
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 389 2 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 388 4 69
Familial hemophagocytic lymphohistiocytosis 4 388 3 14
Developmental and epileptic encephalopathy, 37 387 2 25
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 387 4 28
Spondyloepiphyseal dysplasia with congenital joint dislocations 387 2 25
Megaconial type congenital muscular dystrophy 386 6 24
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 386 9 5
Vanishing white matter disease 386 11 39
Bardet-Biedl syndrome 9 385 3 28
CDH1-related diffuse gastric and lobular breast cancer syndrome 385 2 9
Metaphyseal chondrodysplasia, McKusick type 385 2 17
Neuronal ceroid lipofuscinosis 2 385 1 56
Hermansky-Pudlak syndrome 1 384 4 42
Amyloidosis, hereditary systemic 1 383 7 44
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 383 2 2
Melanoma, cutaneous malignant, susceptibility to, 3 383 4 11
Anophthalmia-microphthalmia syndrome 382 46 4
TSC2-related disorder 382 3 3
Congenital microvillous atrophy 381 5 26
Imerslund-Grasbeck syndrome type 1 381 5 19
Maple syrup urine disease type 1A 381 4 24
Alpha-methylacyl-CoA racemase deficiency 380 5 10
Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 380 2 5
CBL-related disorder 379 6 50
Ataxia-telangiectasia-like disorder 1 378 1 35
Bardet-Biedl syndrome 12 378 2 34
Fraser syndrome 2 378 2 23
Isolated microphthalmia 2 378 2 7
Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 377 5 1
Bifunctional peroxisomal enzyme deficiency 376 2 33
EAST syndrome 376 2 19
Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 376 1 3
MYH9-related disorder 376 4 5
Neutropenia, severe congenital, 2, autosomal dominant 376 7 12
Hypercholesterolemia, autosomal dominant, type B 375 4 55
Mucopolysaccharidosis, MPS-III-C 375 2 39
Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 375 3 5
Surfactant metabolism dysfunction, pulmonary, 4 375 2 12
Renal cysts and diabetes syndrome 374 8 46
Townes syndrome 374 3 4
Citrullinemia type I 373 5 58
ADCY3-related disorder 372 2 1
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 372 3 1
Thrombophilia due to protein C deficiency, autosomal dominant 372 2 30
Aneurysm-osteoarthritis syndrome 371 3 44
Miyoshi muscular dystrophy 1 371 4 20
Aicardi-Goutieres syndrome 3 370 6 24
Generalized epilepsy with febrile seizures plus, type 9 370 5 27
PLEC-related disorder 370 4 2
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 369 5 7
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 368 3 14
GNE myopathy 368 2 51
Hereditary spastic paraplegia 31 368 4 31
Lipoic acid synthetase deficiency 368 7 17
Thyroid dyshormonogenesis 6 368 2 48
Maturity-onset diabetes of the young type 2 367 4 55
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 365 2 2
Familial encephalopathy with neuroserpin inclusion bodies 364 3 13
Hepatic methionine adenosyltransferase deficiency 364 4 21
Congenital prothrombin deficiency 363 2 13
Methylmalonic acidemia with homocystinuria, type cblJ 363 1 22
UDPglucose-4-epimerase deficiency 363 3 23
Weill-Marchesani 4 syndrome, recessive 363 3 19
Spinocerebellar ataxia type 19/22 362 3 28
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 360 3 7
Germ cell tumor of testis 360 342 3
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 360 2 16
Congenital myopathy 18 359 1 9
Pyruvate dehydrogenase E1-beta deficiency 359 4 15
Autosomal recessive early-onset Parkinson disease 6 358 5 30
Primary ciliary dyskinesia 33 358 4 12
Autosomal dominant nonsyndromic hearing loss 11 357 1 38
Dihydropteridine reductase deficiency 357 4 25
Hereditary spastic paraplegia 50 357 5 42
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 357 1 4
Primary ciliary dyskinesia 6 357 2 11
STING-associated vasculopathy with onset in infancy 357 4 25
Camptomelic dysplasia 356 4 37
Methylmalonic aciduria and homocystinuria type cblD 356 4 22
PGM1-congenital disorder of glycosylation 356 4 25
Parkinsonian-pyramidal syndrome 356 1 20
Developmental and epileptic encephalopathy, 5 355 3 55
Mucopolysaccharidosis, MPS-III-B 355 2 44
D-2-hydroxyglutaric aciduria 1 354 6 22
Alpha-N-acetylgalactosaminidase deficiency type 1 353 4 12
Hawkinsinuria; Tyrosinemia type III 353 3 3
Combined immunodeficiency due to OX40 deficiency 351 5 6
Ectodermal dysplasia and immunodeficiency 2 351 5 16
Pyridoxal phosphate-responsive seizures 351 2 32
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 350 7 8
Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 350 3 1
Hereditary factor IX deficiency disease 350 2 34
Joubert syndrome 8 350 6 17
CDKL5 disorder 349 3 4
Nemaline myopathy 349 11 10
Disseminated atypical mycobacterial infection 348 3 1
Junctional epidermolysis bullosa with pyloric atresia 348 6 28
Fumarase deficiency 347 4 26
RPGRIP1L-related disorder 347 1 1
Achondrogenesis, type IB 346 2 16
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 345 3 31
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 345 4 26
Severe combined immunodeficiency due to CORO1A deficiency 345 7 12
Glycogen storage disease IXc 344 2 24
Immunodeficiency, common variable, 2 344 4 47
Leber congenital amaurosis 7; Cone-rod dystrophy 2 344 3 2
Renal tubular dysgenesis 344 6 18
Abetalipoproteinaemia 343 2 27
Neuropathy, hereditary motor and sensory, type 6B 343 4 14
Autosomal dominant nocturnal frontal lobe epilepsy 5 342 2 20
Bartter disease type 1 342 2 33
Frontotemporal dementia 342 25 30
Generalized juvenile polyposis/juvenile polyposis coli 342 13 23
Hypogonadotropic hypogonadism 2 with or without anosmia 342 6 45
Thyrotoxic periodic paralysis, susceptibility to, 1 342 1 4
Melnick-Fraser syndrome 341 7 5
Agammaglobulinemia 4, autosomal recessive 340 3 15
Permanent neonatal diabetes mellitus 340 8 12
APC-related disorder 339 2 1
Autoimmune lymphoproliferative syndrome type 2B 339 6 11
Fibromatosis, gingival, 1 339 3 7
Hypertrophic cardiomyopathy 19 339 2 7
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 339 3 1
Interstitial lung disease due to ABCA3 deficiency 338 3 37
Long QT syndrome 2 338 10 68
Developmental and epileptic encephalopathy, 2 337 10 76
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 337 1 6
Immunodeficiency due to CD25 deficiency 336 6 9
Primary ciliary dyskinesia 30 336 4 16
Encephalopathy due to GLUT1 deficiency 335 4 44
LAMA5-related disorder 335 2 2
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 334 1 4
Hereditary spastic paraplegia 47 334 6 36
Generalized epilepsy with febrile seizures plus, type 2 333 3 53
Hereditary spastic paraplegia 73 333 2 21
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 333 2 3
Medulloblastoma; Familial dysautonomia 333 1 2
Congenital disorder of glycosylation 332 21 12
Glycogen storage disease due to muscle beta-enolase deficiency 331 1 15
Inherited breast cancer and ovarian cancer 330 10 4
Kidney disorder 330 59 3
Usher syndrome type 1C 330 2 24
Autosomal recessive nonsyndromic hearing loss 1A 329 7 96
Proline dehydrogenase deficiency 329 5 18
Iodotyrosyl coupling defect 328 2 29
Charcot-Marie-Tooth disease axonal type 2F 327 1 24
Hemochromatosis type 3 327 3 19
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 326 7 33
PHIP-related disorder 326 4 2
3-Methylglutaconic aciduria type 3; Optic atrophy 3 325 2 6
Autosomal recessive hypophosphatemic bone disease 325 2 43
Pontocerebellar hypoplasia type 6 325 2 45
Arrhythmogenic right ventricular dysplasia 2 324 4 14
Heterotaxy, visceral, 4, autosomal 324 5 15
Immunodeficiency 67 324 2 18
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 324 2 7
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 323 2 45
Autosomal recessive limb-girdle muscular dystrophy type 2W 323 3 11
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 323 5 26
Hereditary angioedema type 1 323 2 30
Brittle cornea syndrome 1 322 4 36
Hyperprolinemia type 2 321 5 18
POLG-related disorder 321 5 21
Brain small vessel disease 1 with or without ocular anomalies 320 3 60
Ehlers-Danlos syndrome progeroid type 320 3 14
Familial hypobetalipoproteinemia 1 320 3 28
Congenital glaucoma 319 4 1
Kleefstra syndrome 2 319 7 74
Nemaline myopathy 5 319 6 17
Chondrodysplasia punctata, brachytelephalangic, autosomal 318 2 2
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 318 3 4
Glycogen storage disease, type IV 317 4 35
Acyl-CoA dehydrogenase 9 deficiency 316 3 31
Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 316 1 5
PIEZO1-related disorder 316 2 3
Seizures, benign familial neonatal, 2 316 3 46
ATM-related cancer predisposition 315 4 7
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 315 1 3
Neu-Laxova syndrome 2 315 2 7
Nonsyndromic genetic hearing loss 315 51 17
Cone-rod dystrophy 314 78 17
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 314 4 6
Joubert syndrome 17 314 8 49
Microcephaly 314 235 20
Renal tubular acidosis with progressive nerve deafness 314 2 35
Spondyloenchondrodysplasia with immune dysregulation 314 1 18
ABCA4-related disorder 313 3 7
Duane-radial ray syndrome 313 3 26
Marinesco-Sjögren syndrome 313 3 26
OBSCN-related disorder 313 2 1
Galactosemia 312 2 7
Hereditary sensory and autonomic neuropathy with spastic paraplegia 312 1 13
Cataract 18 311 1 18
Pheochromocytoma/paraganglioma syndrome 4 311 8 41
Wiskott-Aldrich syndrome 2 311 3 13
Fanconi anemia complementation group J 309 1 28
Griscelli syndrome type 2 309 3 25
Carnitine acylcarnitine translocase deficiency 308 3 19
NCOA1-related disorder 308 1 1
Primary hyperoxaluria type 3 308 2 33
Xeroderma pigmentosum, group C 308 3 33
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 307 1 7
Nephronophthisis 9 307 6 5
Deficiency of 2-methylbutyryl-CoA dehydrogenase 306 3 32
Leukocyte adhesion deficiency type II 306 4 22
Noonan syndrome 8 306 5 50
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 306 2 6
Vesicoureteral reflux 2 306 2 17
Amelogenesis imperfecta hypomaturation type 2A3 305 1 14
Corneal dystrophy 305 11 7
Ehlers-Danlos syndrome, spondylocheirodysplastic type 305 1 11
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 304 2 9
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 303 5 53
Ehlers-Danlos syndrome, musculocontractural type 2 303 2 10
Hereditary spastic paraplegia 30 303 2 37
Hypertrophic cardiomyopathy 2 303 17 25
Intellectual disability, autosomal recessive 42 303 2 24
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 303 2 7
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 302 2 1
Premature ovarian failure 302 251 6
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 301 3 11
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 301 5 39
Progressive myoclonic epilepsy type 8 301 2 11
Achromatopsia 3 300 2 33
Combined immunodeficiency due to CTPS1 deficiency 300 3 8
Familial juvenile hyperuricemic nephropathy type 1 300 2 47
Hereditary spastic paraplegia 6 300 5 18
Hypomyelination and Congenital Cataract 300 6 19
Joubert syndrome 25 300 5 13
Recessive dystrophic epidermolysis bullosa 300 2 49
Cockayne syndrome type 2 299 5 42
Atrial standstill 1; Atrial fibrillation, familial, 11 298 2 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 298 3 3
Cornelia de Lange syndrome 5 298 3 53
Glutamate formiminotransferase deficiency 298 1 16
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 298 2 11
Neurodevelopmental delay 298 203 20
Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 297 2 4
Craniosynostosis syndrome 297 50 14
Junctional epidermolysis bullosa, non-Herlitz type 297 8 28
SLC35A2-congenital disorder of glycosylation 297 10 29
Brain small vessel disease 2A, autosomal dominant 296 3 43
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 296 4 78
Familial ovarian cancer 296 22 7
Nephronophthisis-like nephropathy 1 296 3 12
Nephropathic cystinosis 296 7 31
ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 295 2 4
Gray platelet syndrome 295 2 25
Long QT syndrome 11 295 5 26
Pulmonary arterial hypertension 295 31 10
Glutathione synthetase deficiency with 5-oxoprolinuria 294 2 4
Hyper-IgM syndrome type 1 294 4 25
Prostate cancer, hereditary, 9 294 1 17
Common variable immunodeficiency 293 13 5
Fructose-biphosphatase deficiency 293 2 32
Glycogen storage disease, type VI 293 1 32
Hyperphosphatasia with intellectual disability syndrome 5 293 6 12
Infantile nephronophthisis 293 5 32
Leber congenital amaurosis 5 293 3 19
Macular corneal dystrophy 293 3 20
Severe combined immunodeficiency due to LCK deficiency 293 1 8
Autosomal recessive retinitis pigmentosa 292 39 6
Cornelia de Lange syndrome 4 292 3 32
Sitosterolemia 1 292 4 23
3M syndrome 2 291 2 30
Bilateral frontoparietal polymicrogyria 291 2 26
Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 291 2 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 291 2 4
Amyotrophic lateral sclerosis type 1 290 10 42
Aniridia 1 290 6 41
Elliptocytosis 2 290 2 22
Myoglobinuria, acute recurrent, autosomal recessive 290 4 22
NRP2-related disorder 290 2 2
Primary hyperoxaluria, type II 290 1 31
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 289 2 3
Familial adenomatous polyposis 3 289 3 26
GNPTG-mucolipidosis 289 3 27
Hereditary factor XI deficiency disease 289 3 38
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 288 3 8
Mitochondrial DNA depletion syndrome 9 288 3 24
Nemaline myopathy 9 288 1 11
Arrhythmogenic right ventricular dysplasia 8 287 2 44
Breast neoplasm 287 22 13
Dihydropyrimidine dehydrogenase deficiency 287 2 34
Megalencephalic leukoencephalopathy with subcortical cysts 1 287 4 44
Neurodegeneration with brain iron accumulation 6 287 2 13
Norman-Roberts syndrome 287 4 25
PKD1L1-related disorder 287 1 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 287 3 9
ALMS1-related disorder 286 2 1
Hereditary spherocytosis type 3 286 5 21
Noonan syndrome 1 286 21 101
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 286 2 86
SEMA3G-related disorder 285 1 1
Tip-toe gait 285 56 1
Spermatogenic failure 28; Premature ovarian failure 15 284 2 4
Atypical glycine encephalopathy 283 1 16
Autosomal recessive limb-girdle muscular dystrophy type 2I 283 2 33
Epilepsy, familial focal, with variable foci 1 283 11 75
Pseudohypoaldosteronism type 2B 283 2 15
Candidiasis, familial, 8 282 3 5
Netherton syndrome 282 1 42
Oculotrichoanal syndrome 282 2 8
3-Methylglutaconic aciduria type 3 281 4 21
Ehlers-Danlos syndrome, classic type 281 15 29
Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 281 4 3
Hyper-IgM syndrome type 2 281 3 21
Hereditary acrodermatitis enteropathica 280 2 16
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 280 1 44
Loeys-Dietz syndrome 279 14 12
Multiple congenital anomalies-hypotonia-seizures syndrome 2 279 3 28
Retinitis pigmentosa 26 279 4 31
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 278 1 1
Neuroblastoma 278 42 10
Primary ciliary dyskinesia 32 278 3 12
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 277 1 5
Hyper-IgM syndrome type 5 277 3 14
Neuronal ceroid lipofuscinosis 3 277 1 37
POLE-related disorder 277 2 3
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 276 1 2
Hemochromatosis type 4 276 1 20
Hermansky-Pudlak syndrome 3 276 2 26
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 276 6 28
Purine-nucleoside phosphorylase deficiency 276 2 22
Stargardt disease 276 21 18
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 276 8 18
Bardet-Biedl syndrome 4 275 1 29
Deficiency of steroid 11-beta-monooxygenase 274 4 29
Inosine triphosphatase deficiency 274 7 3
Rotor syndrome 274 5 20
Spondyloepimetaphyseal dysplasia, PAPSS2 type 274 1 21
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 273 1 3
Stickler syndrome type 1 273 2 50
Colorectal cancer, susceptibility to, 1 272 4 7
Hereditary spastic paraplegia 75 272 2 15
SH2B1-related disorder 272 1 3
Arthrogryposis, distal, type 1A 271 7 16
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 271 6 24
Open-angle glaucoma 271 1 1
Pyropoikilocytosis, hereditary 271 3 8
HNSHA due to aldolase A deficiency 270 4 11
Hypoalphalipoproteinemia, primary, 1 270 7 10
Peroxisome biogenesis disorder 1A (Zellweger) 270 11 40
Sjögren-Larsson syndrome 270 4 41
Deficiency of guanidinoacetate methyltransferase 269 2 39
RPGR-related retinopathy 269 2 5
Anemia, congenital dyserythropoietic, type 1a 268 4 22
Atrial fibrillation, familial, 18 268 1 8
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 268 1 2
Hypomyelinating leukodystrophy 6 268 2 39
Neuronopathy, distal hereditary motor, autosomal recessive 5 268 3 20
Tangier disease 268 6 13
Dilated cardiomyopathy 1II 267 2 5
MAGEL2-related disorder 267 1 1
Welander distal myopathy 267 1 7
Congenital muscular dystrophy due to partial LAMA2 deficiency 266 3 4
Niemann-Pick disease, type C2 266 3 27
Thrombocytopenia 2 266 4 30
Tyrosinase-positive oculocutaneous albinism 266 6 61
von Willebrand disease type 1 266 3 35
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 265 1 4
Corneal dystrophy-perceptive deafness syndrome 264 1 9
Fanconi-Bickel syndrome 264 2 23
Combined immunodeficiency due to STK4 deficiency 263 3 10
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 263 3 7
Dilated cardiomyopathy 1D 263 3 35
Hypogonadotropic hypogonadism 1 with or without anosmia 263 1 35
Congenital insensitivity to pain-hypohidrosis syndrome 262 4 12
KSR2-related disorder 262 1 1
Retinal disorder 262 110 3
Immunodeficiency 18 261 3 14
Long QT syndrome 3 261 2 40
Pontoneocerebellar hypoplasia 261 18 7
Wolcott-Rallison dysplasia 261 1 27
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 260 2 20
Focal segmental glomerulosclerosis 260 60 14
L-2-hydroxyglutaric aciduria 260 3 37
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 260 2 3
Developmental and epileptic encephalopathy, 69 259 1 37
Developmental and epileptic encephalopathy, 7 259 3 74
Glycine encephalopathy 1 259 4 29
Hereditary spastic paraplegia 54 259 3 28
Joubert syndrome and related disorders 259 31 6
Mesothelioma 259 246 2
Palmoplantar keratoderma-esophageal carcinoma syndrome 259 1 10
Familial renal glucosuria 258 5 26
Focal segmental glomerulosclerosis 2 258 1 27
MECP2-related disorder 258 2 8
46,XY sex reversal 9 257 2 6
Charcot-Marie-Tooth disease dominant intermediate F 257 1 12
Developmental and epileptic encephalopathy, 11 257 2 79
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 257 2 4
Hypogonadotropic hypogonadism 5 with or without anosmia 257 4 27
Schizophrenia 257 232 20
Anterior segment dysgenesis 7 256 3 16
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 256 1 3
BBS9-related disorder 256 1 1
Bardet-Biedl syndrome 7 256 2 36
FLNA-related disorder 256 2 11
CHD7-related disorder 255 2 5
DNAH17-related disorder 253 6 1
Developmental and epileptic encephalopathy, 4 253 10 93
Glycogen storage disease XV; Polyglucosan body myopathy type 2 253 3 4
Hyperlipoproteinemia, type I 253 3 29
Muscle eye brain disease 253 2 6
Pituitary adenoma 5, multiple types 253 5 8
Sessile serrated polyposis cancer syndrome 253 1 14
von Willebrand disease type 3 253 1 23
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 252 12 71
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 252 2 29
Age related macular degeneration 4 252 1 7
Cerebral cavernous malformation 2 252 5 28
Dilated cardiomyopathy 1GG 252 1 6
FLNB-Related Spectrum Disorders 252 2 2
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 252 1 6
Inflammatory bowel disease 25 252 4 12
LEPR-related disorder 252 2 2
Nephrotic syndrome, type 2 252 2 49
Polycystic liver disease 2 252 2 19
Primary ciliary dyskinesia 19 252 1 24
Autosomal recessive proximal renal tubular acidosis 251 3 11
Congenital amegakaryocytic thrombocytopenia 251 1 18
Stickler syndrome type 2 251 3 43
Autosomal dominant nonsyndromic hearing loss 4A 250 2 21
Charcot-Marie-Tooth disease X-linked dominant 1 250 5 68
Dilated cardiomyopathy 3B 250 4 24
Gingival disorder 250 1 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 250 3 82
Meckel syndrome, type 1 250 4 20
Retinitis pigmentosa 28 250 2 25
Retinitis pigmentosa 3 250 4 36
Telangiectasia, hereditary hemorrhagic, type 5 250 2 13
Ehlers-Danlos syndrome, classic type, 2 249 4 36
Factor V deficiency 249 1 16
Larsen-like syndrome, B3GAT3 type 249 4 15
Thrombophilia due to thrombin defect 249 4 23
Pontocerebellar hypoplasia type 1B 248 3 43
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 247 3 10
Congenital disorder of glycosylation type 1E 247 5 16
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 247 2 5
Finnish type amyloidosis 247 1 18
Multiple congenital anomalies-hypotonia-seizures syndrome 3 247 2 25
Nail-patella syndrome 247 2 42
Agammaglobulinemia 2, autosomal recessive 246 2 14
Alzheimer disease 4 246 5 17
Breast ductal adenocarcinoma 246 254 2
Nicolaides-Baraitser syndrome 246 4 55
Xeroderma pigmentosum variant type 246 3 22
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 245 2 83
Microcephaly 1, primary, autosomal recessive 245 8 38
Sengers syndrome; Cataract 38 245 2 4
Bailey-Bloch congenital myopathy 244 3 21
Holoprosencephaly sequence 244 13 6
Oculodentodigital dysplasia, autosomal recessive 244 3 3
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 243 5 25
Autism 243 230 35
Fanconi anemia complementation group D1 243 2 21
Hereditary spastic paraplegia 2 243 5 19
NOTCH1-related disorder 243 3 5
Syndromic X-linked intellectual disability 14 243 3 22
BRCA1-related disorder 242 3 3
Greig cephalopolysyndactyly syndrome 242 3 35
Hemolytic uremic syndrome, atypical, susceptibility to, 1 242 8 22
Retinitis pigmentosa 12 242 1 25
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 241 2 70
ALG8 congenital disorder of glycosylation 241 2 19
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 241 1 2
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 241 2 4
Knobloch syndrome 241 5 28
Lysosomal acid lipase deficiency 241 1 37
Maturity-onset diabetes of the young type 3 241 4 56
Muscular dystrophy, limb-girdle, autosomal dominant 4 241 4 24
Congenital myopathy with fiber type disproportion 240 15 23
Intellectual developmental disorder with autism and macrocephaly 240 5 78
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 240 3 3
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 240 6 22
Pheochromocytoma/paraganglioma syndrome 1 240 70 25
Pseudohypoaldosteronism, type IB1, autosomal recessive 240 4 21
TBX3-related disorder 239 2 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 238 1 2
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 238 1 17
Hypercalcemia, infantile, 1 238 2 36
Spondylocostal dysostosis 3, autosomal recessive 238 4 10
DNMT3A-related disorder 237 3 4
NRP1-related disorder 237 2 1
Pyruvate dehydrogenase E2 deficiency 237 3 21
Autosomal dominant nonsyndromic hearing loss 6 236 2 26
Intellectual disability, X-linked syndromic, Turner type 236 4 70
Marshall-Smith syndrome; Malan overgrowth syndrome 236 2 14
Enhanced S-cone syndrome 235 3 20
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin 235 1 4
Paramyotonia congenita of Von Eulenburg 235 2 20
Peters plus syndrome 235 3 28
Syndromic X-linked intellectual disability Raymond type 235 4 21
Type A2 brachydactyly; Acromesomelic dysplasia 3 235 1 1
Vitamin D-dependent rickets type II with alopecia 235 4 29
Global developmental delay 234 177 37
Hereditary von Willebrand disease 234 1 14
Intellectual disability, X-linked 102 234 5 94
SEMA3F-related disorder 234 1 1
Cardiomyopathy, familial restrictive, 3 233 1 4
Leber congenital amaurosis 2 233 2 24
SYNE1-related disorder 233 4 4
Vitamin B2 deficiency 233 1 1
Breast-ovarian cancer, familial, susceptibility to, 5 232 5 30
Cerebral folate transport deficiency 232 3 25
Dilated cardiomyopathy 1S 232 19 48
Familial Mediterranean fever, autosomal dominant 232 4 32
Glycogen storage disorder due to hepatic glycogen synthase deficiency 232 2 25
Hurler syndrome 232 3 37
NPHP4-related disorder 232 1 3
Neuronal ceroid lipofuscinosis 5 232 2 41
Primary ciliary dyskinesia 15 232 4 26
Cataract 6 multiple types 231 2 19
Dilated cardiomyopathy 1A 231 38 59
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 231 3 2
Joubert syndrome 5 231 3 37
MKS1-related disorder 231 2 3
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 231 1 1
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 230 1 3
Charcot-Marie-Tooth disease type 4D 230 4 25
Holt-Oram syndrome 230 2 42
Juvenile onset Parkinson disease 19A 230 1 10
Leprechaunism syndrome 230 3 13
Achromatopsia 2 229 1 45
Leber congenital amaurosis 12 229 1 8
Pulmonary hypertension, primary, 4 229 1 13
Dyskeratosis congenita, autosomal dominant 2 228 2 23
3M syndrome 1 227 3 47
Autosomal recessive congenital ichthyosis 2 227 6 31
Catecholaminergic polymorphic ventricular tachycardia 2 227 2 27
Congenital Muscular Dystrophy, alpha-dystroglycan related 227 6 1
Dyskeratosis congenita, autosomal recessive 5 227 4 24
Dystonia 9 227 4 12
Multiple epiphyseal dysplasia type 4 227 3 19
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 226 2 28
DYRK1B-related disorder 226 1 1
Developmental and epileptic encephalopathy, 42 226 6 60
Immunodeficiency 28 226 5 7
Lymphoproliferative syndrome 2 226 6 9
NOTCH2-related disorder 226 1 2
Progressive encephalopathy with leukodystrophy due to DECR deficiency 226 3 9
Pure or complex autosomal recessive spastic paraplegia 226 3 1
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 226 1 3
X-linked intellectual disability Cabezas type 226 3 45
MSH6-related disorder 225 1 3
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 225 1 10
Meniere disease 225 56 3
Cerebroretinal microangiopathy with calcifications and cysts 1 224 2 31
Charcot-Marie-Tooth disease type 1C 224 3 18
Insulin-resistant diabetes mellitus AND acanthosis nigricans 224 3 11
Nephronophthisis 4 224 3 24
Vitreoretinopathy 224 6 4
von Willebrand disease type 2 224 1 28
AFF4-related disorder 223 1 2
Autosomal recessive nonsyndromic hearing loss 23 223 2 27
Dubin-Johnson syndrome 223 4 33
Hypokalemic periodic paralysis, type 2 223 2 23
Intellectual disability, autosomal dominant 14 223 6 60
Intellectual disability, autosomal dominant 52 223 2 56
Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 223 2 4
Pigmentary retinal dystrophy 223 5 31
Diastrophic dysplasia 222 2 22
Hearing loss, autosomal recessive 222 60 20
Progressive familial intrahepatic cholestasis type 1 222 7 26
SDCCAG8-related disorder 222 2 1
Amyotrophic lateral sclerosis type 5 221 3 11
Brachydactyly type B1; Autosomal recessive Robinow syndrome 221 1 3
CFI-related disorder 221 1 4
Chronic granulomatous disease 221 7 3
Fraser syndrome 3 221 16 15
Primary erythromelalgia 221 2 26
Rabson-Mendenhall syndrome 221 2 11
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 220 2 26
Temtamy syndrome 220 6 28
Thyroid hormone resistance, generalized, autosomal dominant 220 3 24
46,XY sex reversal 6 219 3 22
Charcot-Marie-Tooth disease axonal type 2L 219 1 9
Charcot-Marie-Tooth disease axonal type 2X 219 3 15
FAT1-related disorder 219 5 3
Hennekam lymphangiectasia-lymphedema syndrome 1 219 2 22
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 219 2 2
Primary ciliary dyskinesia 27 219 2 11
Senior-Loken syndrome 5 219 1 22
ARID1B-Related Disorder 218 6 4
Acromicric dysplasia 218 5 14
Cataract 14 multiple types 218 2 20
NEB-related disorder 218 3 3
Posterior column ataxia-retinitis pigmentosa syndrome 218 4 21
Steinert myotonic dystrophy syndrome 218 8 13
3-methylglutaconic aciduria type 1 217 4 18
Arterial calcification, generalized, of infancy, 1 217 3 16
Becker muscular dystrophy 217 3 42
Charcot-Marie-Tooth disease type 4H 217 1 22
DDX41-related hematologic malignancy predisposition syndrome 217 2 26
Deficiency of isobutyryl-CoA dehydrogenase 217 2 21
Hydatidiform mole, recurrent, 1 217 3 22
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 217 1 14
Adult hypophosphatasia 216 1 33
Basal laminar drusen; Factor H deficiency; Age related macular degeneration 4; Atypical hemolytic-uremic syndrome 216 1 1
Congenital myasthenic syndrome 16 216 2 8
Developmental and epileptic encephalopathy, 13 216 5 60
Developmental disorder 216 168 4
Fanconi anemia complementation group L 216 2 24
INPP5E-related disorder 216 1 2
Medulloblastoma 216 27 20
Pulmonary hypertension, primary, 2 216 1 14
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 216 7 30
Alzheimer disease 3 215 1 38
Amyotrophic lateral sclerosis type 8; Adult-onset proximal spinal muscular atrophy, autosomal dominant 215 2 2
Autosomal dominant nonsyndromic hearing loss 17 215 3 14
Glucocorticoid-remediable aldosteronism 215 5 5
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 215 2 12
Epidermolysis bullosa dystrophica inversa, autosomal recessive 214 2 2
Hyperinsulinism-hyperammonemia syndrome 214 4 28
Hypoparathyroidism, deafness, renal disease syndrome 214 4 49
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 214 3 22
Autosomal recessive distal spinal muscular atrophy 1 213 2 41
Congenital lipoid adrenal hyperplasia due to STAR deficency 213 3 23
Familial multiple polyposis syndrome 213 3 16
Glaucoma 3, primary congenital, D 213 1 6
Ichthyosis vulgaris 213 1 62
Microcephaly 3, primary, autosomal recessive 213 1 42
Primary familial dilated cardiomyopathy 213 46 7
Blau syndrome 212 2 33
Congenital brain dysgenesis due to glutamine synthetase deficiency 212 3 10
Dilated cardiomyopathy 1E 212 2 18
Focal segmental glomerulosclerosis 6 212 3 14
Migraine, familial hemiplegic, 2 212 2 27
Potassium-aggravated myotonia 212 2 13
Severe combined immunodeficiency disease 212 37 7
ANKRD11-related disorder 211 2 1
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 211 1 3
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 211 1 6
Autosomal dominant optic atrophy classic form 211 3 42
BBS1-related disorder 211 2 1
Charcot-Marie-Tooth disease type 4B2 211 4 29
Joubert syndrome 9 211 4 35
Karyomegalic interstitial nephritis 211 2 20
Neural tube defect 211 16 14
SEMA3E-related disorder 211 1 1
SMARCA4-related disorder 211 1 2
Spherocytosis 211 8 4
Congenital stationary night blindness 1E 210 1 19
Craniometaphyseal dysplasia, autosomal dominant 210 4 10
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2 210 3 3
Frank-Ter Haar syndrome 210 1 19
PCSK1-related disorder 210 1 1
Pseudohypoaldosteronism type 2C 210 2 11
Rothmund-Thomson syndrome type 2 210 4 21
Snijders Blok-Campeau syndrome 210 4 64
Autosomal recessive nonsyndromic hearing loss 97 209 1 3
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 209 2 4
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 209 1 4
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 209 5 9
Paroxysmal extreme pain disorder 209 3 11
Specific granule deficiency 209 3 1
Waardenburg syndrome type 2A 209 4 29
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 208 4 5
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 208 2 2
Congenital disorder of glycosylation type Ir 208 2 10
Distal arthrogryposis type 2B1 208 4 29
Ectopia lentis 1, isolated, autosomal dominant 208 6 13
FBN1-related disorder 208 3 7
Juvenile retinoschisis 208 2 44
Monogenic hearing loss 208 66 2
Pseudohypoparathyroidism type 1B 208 4 14
SETX-related disorder 208 2 1
SIM1-related disorder 208 1 3
WFS1-Related Spectrum Disorders 208 2 3
Xeroderma pigmentosum, group F 208 2 15
Autosomal dominant nonsyndromic hearing loss 22 207 2 30
Bernard Soulier syndrome 207 5 28
Focal segmental glomerulosclerosis 3, susceptibility to 207 2 13
Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 207 2 4
PTCH1-related disorder 207 3 6
Pseudohypoaldosteronism type 2D 207 1 13
Susceptibility to respiratory infections associated with CD8alpha chain mutation 207 3 6
TUB-related disorder 207 2 1
WDPCP-related disorder 207 1 2
CACNA1A-related disorder 206 6 8
Pontocerebellar hypoplasia type 2D 206 4 29
Autosomal dominant nonsyndromic hearing loss 12 205 2 33
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 205 1 2
Breast carcinoma 205 35 9
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 205 1 3
Cernunnos-XLF deficiency 205 2 11
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 205 2 4
Fanconi anemia complementation group F 205 3 17
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 205 1 5
Nephrotic syndrome 15 205 2 10
Pigmented paravenous retinochoroidal atrophy 205 1 12
Stiff skin syndrome 205 5 5
ZTTK syndrome 205 4 62
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 204 1 6
Familial hyperinsulinism 204 7 5
Maturity-onset diabetes of the young type 1 204 3 36
Mitochondrial DNA depletion syndrome 1 204 11 37
Rhizomelic chondrodysplasia punctata type 3 204 2 11
DYNC1H1-related disorder 203 2 8
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 203 1 4
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 203 4 1
Neurofibromatosis, familial spinal 203 2 6
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 202 3 78
Carnitine palmitoyl transferase II deficiency, severe infantile form 202 2 22
FANCA-related disorder 202 6 1
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 202 5 1
Leber congenital amaurosis 9 202 2 21
Neurofibromatosis-Noonan syndrome 202 5 30
Osteogenesis imperfecta with normal sclerae, dominant form 202 4 43
Chondrocalcinosis 2 201 5 5
Holoprosencephaly 7 201 5 15
Immunodeficiency 19 201 3 11
Low phospholipid associated cholelithiasis; Familial intrahepatic cholestasis 201 3 1
Megalencephalic leukoencephalopathy with subcortical cysts 201 4 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 201 2 10
Plasma factor XI deficiency 201 1 1
Seizures, benign familial infantile, 3 201 3 29
Succinyl-CoA acetoacetate transferase deficiency 201 2 21
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 200 3 46
Pheochromocytoma/paraganglioma syndrome 3 200 3 21
Tay-Sachs disease, variant AB 200 4 18
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 199 1 10
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 199 1 1
D-2-hydroxyglutaric aciduria 2 199 4 14
Mitochondrial complex I deficiency 199 33 30
Retinitis pigmentosa 40 199 29 30
EPPK1-related disorder 198 1 1
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 198 1 3
Focal segmental glomerulosclerosis 1 198 5 23
Isolated focal non-epidermolytic palmoplantar keratoderma 198 2 6
Malignant hyperthermia of anesthesia 198 6 13
Optic atrophy 3 198 2 10
Polycystic liver disease 1 198 6 27
SEMA3D-related disorder 198 2 1
Seizures, benign familial neonatal, 1 198 5 37
Cataract 1 multiple types 197 4 25
Charcot-Marie-Tooth disease X-linked dominant 6 197 2 14
Qualitative or quantitative defects of delta-sarcoglycan 197 1 1
Sick sinus syndrome 1 197 2 8
Sterile multifocal osteomyelitis with periostitis and pustulosis 197 3 10
USH2A-related disorder 197 3 12
Ventricular fibrillation, paroxysmal familial, type 1 197 14 5
Asphyxiating thoracic dystrophy 2 196 2 13
COG4-congenital disorder of glycosylation 196 2 16
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 196 1 2
Methylmalonic acidemia 196 7 4
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 196 4 1
Amyotrophic lateral sclerosis type 15 195 3 16
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 195 3 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 195 4 46
BBS2-related disorder 195 1 3
Developmental and epileptic encephalopathy, 21 195 6 8
Immunodeficiency, common variable, 4 195 4 9
Meckel syndrome, type 4 195 4 21
Neutrophil immunodeficiency syndrome 195 3 8
Roberts-SC phocomelia syndrome 195 2 21
FRAS1-related disorder 194 3 1
Glucocorticoid resistance 194 3 12
Hereditary spastic paraplegia 45 194 3 19
Peripheral neuropathy 194 49 11
Reticular dysgenesis 194 2 14
Androgen resistance syndrome 193 3 46
Budd-Chiari syndrome 193 1 1
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 193 2 11
Kindler syndrome 193 2 24
Polydactyly 193 5 4
Warts, hypogammaglobulinemia, infections, and myelokathexis 193 4 5
Autosomal recessive nonsyndromic hearing loss 21 192 2 25
COL1A1-related disorder 192 2 3
Childhood onset GLUT1 deficiency syndrome 2 192 3 25
DNAH9-related disorder 192 4 1
Diamond-Blackfan anemia 8 192 3 14
Fibromuscular dysplasia, multifocal 192 2 9
Hermansky-Pudlak syndrome 4 192 3 23
KCNQ1-related disorder 192 2 7
NTRK2-related disorder 192 2 1
Renal hypodysplasia/aplasia 1 192 5 20
Vitamin K-dependent clotting factors, combined deficiency of, type 1 192 3 7
Acute febrile neutrophilic dermatosis 191 2 4
Aromatase deficiency 191 4 13
Autosomal recessive juvenile Parkinson disease 2 191 8 41
Autosomal recessive nonsyndromic hearing loss 37 191 1 12
Congenital stationary night blindness 1C 191 8 28
Mucopolysaccharidosis, MPS-IV-B 191 2 17
Polycystic kidney disease 3 with or without polycystic liver disease 191 3 30
Stüve-Wiedemann syndrome 1 191 1 17
Syndromic X-linked intellectual disability Hedera type 191 3 12
Autosomal recessive nonsyndromic hearing loss 30 190 1 31
Irido-corneo-trabecular dysgenesis 190 13 10
Leber congenital amaurosis 10 190 6 22
Neurodevelopmental abnormality 190 131 8
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 189 5 67
Autosomal recessive ataxia due to ubiquinone deficiency 189 4 50
Basal cell carcinoma, susceptibility to, 1 189 6 7
Deficiency of steroid 17-alpha-monooxygenase 189 2 29
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 189 2 24
Freeman-Sheldon syndrome 189 1 24
Nephronophthisis 7 189 1 8
Progressive familial heart block, type 1A 189 3 7
Diabetes insipidus, nephrogenic, autosomal 188 2 22
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 188 1 6
Generalized pustular psoriasis 188 3 9
Leber congenital amaurosis 1 188 10 39
Myhre syndrome 188 1 34
CHEK2-related cancer predisposition 187 3 39
Congenital afibrinogenemia 187 4 21
Intellectual disability, X-linked 93 187 1 46
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 187 1 47
Thrombocytopenia 187 35 8
ALG3-congenital disorder of glycosylation 186 4 25
Deficiency of iodide peroxidase 186 3 30
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 186 3 4
Ehlers-Danlos syndrome, musculocontractural type 186 3 10
Familial infantile myoclonic epilepsy 186 3 7
IFT74-related disorder 186 1 2
Immunodeficiency, common variable, 1 186 6 12
Maple syrup urine disease type 1B 186 1 16
Meckel syndrome, type 6 186 3 20
Obesity 186 53 28
Retinal cone dystrophy 4 186 1 13
Heimler syndrome 1 185 4 13
Hyaline fibromatosis syndrome 185 3 30
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 185 2 19
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 185 3 58
RPE65-related recessive retinopathy 185 1 3
Atelosteogenesis type II 184 2 11
Carpenter syndrome 184 2 4
Cerebrooculofacioskeletal syndrome 1 184 5 11
Chitotriosidase deficiency 184 1 5
Cranioectodermal dysplasia 2 184 3 13
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 184 8 11
Intellectual disability-severe speech delay-mild dysmorphism syndrome 184 3 83
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 184 2 5
Microphthalmia with brain and digit anomalies; Orofacial cleft 11 184 2 2
Nephrotic syndrome 184 61 15
SEMA3C-related disorder 184 1 1
3-hydroxyisobutyryl-CoA hydrolase deficiency 183 3 29
ADGRV1-related disorder 183 2 2
COL18A1-related disorder 183 3 2
COL2A1-related disorder 183 1 8
Congenital myasthenic syndrome 18 183 2 10
Dent disease type 1 183 3 33
Encephalopathy, acute, infection-induced, susceptibility to, 4 183 2 6
Hereditary diffuse leukoencephalopathy with spheroids 183 5 22
Myosin storage myopathy 183 6 20
Primary ciliary dyskinesia 14 183 2 29
SEMA3A-related disorder 183 1 1
SEMA3B-related disorder 183 3 1
Syndromic X-linked intellectual disability Claes-Jensen type 183 4 78
Bietti crystalline corneoretinal dystrophy 182 5 33
Childhood apraxia of speech 182 7 35
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 182 3 17
Hypophosphatemic rickets, autosomal recessive, 2 182 1 10
Intellectual disability, autosomal dominant 6 182 1 65
Periventricular heterotopia with microcephaly, autosomal recessive 182 3 26
Amyotrophic lateral sclerosis 181 63 20
Anophthalmia/microphthalmia-esophageal atresia syndrome 181 11 37
Choroideremia 181 7 44
Cone-rod dystrophy 15 181 3 29
Dilated cardiomyopathy 1X 181 1 7
Ectopia lentis 2, isolated, autosomal recessive 181 4 17
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 181 2 16
Fibrochondrogenesis 1 181 2 11
Hermansky-Pudlak syndrome 9 181 1 15
Hypoplastic left heart syndrome 181 10 10
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 181 4 38
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 181 2 37
Temtamy preaxial brachydactyly syndrome 181 2 9
Autosomal dominant polycystic liver disease 180 26 4
Congenital generalized lipodystrophy type 1 180 1 25
RET-related disorder 180 3 4
Spondylocostal dysostosis 2, autosomal recessive 180 6 13
Alexander disease 179 2 58
Autosomal recessive nonsyndromic hearing loss 8 179 2 56
Café-au-lait macules with pulmonary stenosis 179 2 6
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 179 3 6
Familial cold autoinflammatory syndrome 1 179 1 13
Hypersulfaturia; Nephrolithiasis susceptibility caused by SLC26A1 179 1 2
Hypertrophic cardiomyopathy 26 179 4 47
Mulibrey nanism syndrome 179 6 25
Parkinson disease 17 179 2 9
Phelan-McDermid syndrome 179 30 71
Proteosome-associated autoinflammatory syndrome 179 2 1
Sacral defect with anterior meningocele 179 2 3
ABCC2-related disorder 178 4 1
Acrodysostosis 2 with or without hormone resistance 178 3 24
Basal laminar drusen 178 1 9
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 178 2 36
Cutis laxa with osteodystrophy 178 3 17
Leber congenital amaurosis 6 178 1 30
Lethal acantholytic epidermolysis bullosa 178 1 5
Long QT syndrome 10 178 4 8
PALB2-related disorder 178 2 8
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 178 2 9
Pseudo-Hurler polydystrophy 178 3 25
Woolly hair-skin fragility syndrome 178 2 6
Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 177 4 4
CC2D2A-related disorder 177 1 7
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 177 11 55
Dilated cardiomyopathy 2B 177 2 9
Familial colorectal cancer type X 177 9 2
JAG1-related disorder 177 1 3
BBS10-related disorder 176 1 1
Focal segmental glomerulosclerosis 5 176 2 22
Holoprosencephaly 9 176 1 19
Lissencephaly 9 with complex brainstem malformation 176 3 38
Alternating hemiplegia of childhood 1 175 3 13
Congenital myotonia, autosomal recessive form 175 4 51
Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 175 7 1
Fleck corneal dystrophy 175 2 10
Intellectual disability, autosomal dominant 43 175 4 50
Left ventricular noncompaction 10 175 2 33
Pyknodysostosis 175 1 31
Thrombophilia due to protein S deficiency, autosomal dominant 175 1 32
Bartter disease type 3; Bartter disease type 4B 174 2 4
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 174 1 4
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 174 4 1
Accelerated tumor formation, susceptibility to 173 3 3
Autosomal dominant centronuclear myopathy 173 6 32
Cardiomyopathy, familial hypertrophic 27 173 2 30
Complement component 3 deficiency 173 1 10
Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 173 3 1
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 173 1 7
Osteogenesis imperfecta, perinatal lethal 173 3 49
Parietal foramina 2 173 1 8
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 173 3 6
Wolff-Parkinson-White pattern 173 51 11
Alopecia universalis congenita 172 2 9
Atrichia with papular lesions 172 2 6
BBS4-related disorder 172 1 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 172 2 52
Episodic ataxia type 2 172 10 51
NPC1-related disorder 172 2 2
Ullrich congenital muscular dystrophy 1A 172 5 45
3 beta-Hydroxysteroid dehydrogenase deficiency 171 2 19
APC-Associated Polyposis Disorders 171 1 4
Abnormality of the musculature 171 55 1
Athabaskan severe combined immunodeficiency 171 1 3
Cenani-Lenz syndactyly syndrome 171 3 12
Charcot-Marie-Tooth disease type 4F 171 4 26
Embryonal rhabdomyosarcoma 171 39 3
Intellectual disability, autosomal dominant 13 171 5 57
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 171 5 58
Muir-Torré syndrome 171 3 14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 171 3 20
Otospondylomegaepiphyseal dysplasia, autosomal recessive 171 2 17
Senior-Loken syndrome 4 171 2 9
Smith-Magenis syndrome 171 8 67
Torsion dystonia 6 171 2 25
Agammaglobulinemia 6, autosomal recessive 170 1 5
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 170 3 11
Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 170 2 1
Charcot-Marie-Tooth disease type 2B 170 3 7
Corticosterone methyl oxidase type II deficiency 170 1 1
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 170 2 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 170 4 62
MYH7-related skeletal myopathy 170 6 20
Short-rib thoracic dysplasia 7 with or without polydactyly 170 2 7
X-linked agammaglobulinemia 170 2 38
Amyotrophic lateral sclerosis type 6 169 2 18
COL4A1-related disorder 169 2 9
GLI2-related disorder 169 1 5
MYO5B-related disorder 169 4 1
SRD5A3-congenital disorder of glycosylation 169 2 21
Somatotroph adenoma 169 6 13
COL7A1-related disorder 168 2 5
Factor H deficiency 168 1 14
Familial isolated deficiency of vitamin E 168 2 30
Fetal anomalies with a likely genetic cause 168 135 2
Hereditary spastic paraplegia 64 168 2 15
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 168 4 13
Joubert syndrome 7 168 4 21
Kartagener syndrome 168 24 34
Matthew-Wood syndrome 168 3 20
Neurodegeneration with brain iron accumulation 4 168 2 31
Neurodevelopmental disorder with or without early-onset generalized epilepsy 168 2 37
Polyposis syndrome, hereditary mixed, 2 168 1 8
Autosomal recessive nonsyndromic hearing loss 7 167 3 38
Bohring-Opitz syndrome 167 2 43
Chondrodysplasia with joint dislocations, gPAPP type 167 2 7
Cleidocranial dysostosis 167 4 40
Combined immunodeficiency due to CD3gamma deficiency 167 5 11
Glaucoma 3A 167 6 34
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 167 4 39
Immunodeficiency 25 167 3 11
Intellectual disability, autosomal dominant 45 167 4 50
Late-infantile neuronal ceroid lipofuscinosis 167 1 2
POLD1-related disorder 167 1 2
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Prostate cancer; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 166 1 2
Hereditary spherocytosis type 4 166 2 21
Joubert syndrome 1 166 16 20
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 166 1 10
Osteopetrosis 166 10 5
TRIM32-related disorder 166 1 1
Abnormal esophagus morphology 165 130 1
Hypogonadotropic hypogonadism 7 with or without anosmia 165 11 31
Atrial fibrillation, familial, 6 164 4 5
BBS12-related disorder 164 1 1
Candidiasis, familial, 6 164 1 7
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 164 1 3
Congenital ichthyosis of skin 164 3 2
Cystinosis 164 2 15
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 164 2 2
FBN3-related disorder 164 1 1
Glutaric acidemia type 2C 164 1 1
Hyperglycinuria 164 4 9
LRP2-related disorder 164 1 1
Male infertility 164 87 11
Oxoglutaricaciduria 164 2 11
Pancreatic cancer, susceptibility to, 1 164 2 8
Agammaglobulinemia 3, autosomal recessive 163 2 8
Autosomal recessive Robinow syndrome 163 2 22
FAT4-related disorder 163 1 3
Geleophysic dysplasia 1 163 2 25
Lymphatic malformation 6 163 3 31
MSH2-related disorder 163 1 4
Methylmalonic acidemia due to transcobalamin receptor defect 163 1 7
Oroticaciduria 163 1 8
Primary hypomagnesemia 163 1 32
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 162 2 5
C3 glomerulonephritis 162 7 12
Cone-rod dystrophy 5 162 4 13
Dilated cardiomyopathy 1L 162 1 8
Ehlers-Danlos syndrome, arthrochalasia type 162 5 16
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 162 1 5
Hermansky-Pudlak syndrome 5 162 3 20
Hypohidrotic ectodermal dysplasia 162 3 3
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 162 1 31
MYO7A-related disorder 162 1 10
PLA2G6-associated neurodegeneration 162 4 8
Pelizaeus-Merzbacher disease 162 8 38
Short QT syndrome type 1; Long QT syndrome 2 162 1 7
Short stature 162 88 16
Atrial fibrillation, familial, 14 161 2 12
COL11A1-related disorder 161 2 6
Dalmatian hypouricemia 161 1 17
Epilepsy, idiopathic generalized, susceptibility to, 12 161 3 13
Farber lipogranulomatosis 161 2 20
Non-acquired combined pituitary hormone deficiency with spine abnormalities 161 1 16
Ocular cystinosis 161 5 6
Platelet-type bleeding disorder 9 161 2 2
Pyogenic bacterial infections due to MyD88 deficiency 161 2 7
Cone-rod dystrophy 2 160 6 21
Joubert syndrome 16 160 1 18
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 160 2 16
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 160 2 5
RECQL4-related disorder 160 2 3
Aicardi Goutieres syndrome 159 9 5
Bartter disease type 2 159 1 33
CUBN-related disorder 159 3 3
Congenital anomaly of kidney and urinary tract 159 58 11
Congenital sensory neuropathy with selective loss of small myelinated fibers 159 2 12
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 159 2 2
Glycogen storage disease type X 159 5 18
Neuronal ceroid lipofuscinosis 8 159 1 27
Amyotrophic lateral sclerosis type 8 158 2 5
Autism spectrum disorder due to AUTS2 deficiency 158 12 62
Brachydactyly 158 5 3
Branchiootorenal syndrome 2 158 4 16
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 158 3 7
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 158 2 2
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 158 2 11
Deficiency of phosphoserine phosphatase 158 3 11
Distal spinal muscular atrophy 158 25 10
Erythrocytosis, familial, 4 158 4 13
Lynch syndrome 4; Mismatch repair cancer syndrome 4 158 1 7
Nephronophthisis 12 158 2 21
Nephrotic syndrome, type 6 158 2 8
Neutral 1 amino acid transport defect 158 1 21
Osteogenesis imperfecta type III 158 13 34
Sulfate transporter-related osteochondrodysplasia 158 2 2
Adult-onset proximal spinal muscular atrophy, autosomal dominant 157 3 4
Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 157 2 1
Autosomal dominant pseudohypoaldosteronism type 1 157 4 21
COG8-congenital disorder of glycosylation 157 5 16
Combined oxidative phosphorylation defect type 8 157 1 17
Congenital secretory diarrhea, chloride type 157 2 35
Duane-radial ray syndrome; Oculootoradial syndrome 157 1 3
Hereditary spastic paraplegia 53 157 2 7
Holoprosencephaly 2 157 5 13
Hyperimmunoglobulin D with periodic fever 157 3 27
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 157 4 23
MACF1-related disorder 157 3 1
MKKS-related disorder 157 1 2
Usher syndrome type 2C; Febrile seizures, familial, 4 157 1 3
Exudative vitreoretinopathy 1 156 10 27
Infantile hypophosphatasia 156 2 31
Neuronal ceroid lipofuscinosis 13 156 1 16
Andersen Tawil syndrome 155 3 33
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 155 4 6
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Fanconi anemia, complementation group S 155 2 1
Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 155 1 3
Peroxisome biogenesis disorder 7A (Zellweger) 155 3 14
Tumoral calcinosis, hyperphosphatemic, familial, 1 155 4 20
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 154 4 5
BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 154 1 2
Diamond-Blackfan anemia 10 154 3 20
Myopathy, centronuclear, 5 154 4 21
Neural tube defects, folate-sensitive 154 2 3
Schaaf-Yang syndrome 154 1 57
ZNF469-related disorder 154 2 1
COL6A3-related disorder 153 2 5
Congenital dyserythropoietic anemia, type I 153 3 7
Fibrochondrogenesis 2 153 1 9
Hereditary cryohydrocytosis with reduced stomatin 153 3 7
Kufor-Rakeb syndrome 153 2 23
Maturity-onset diabetes of the young type 8 153 1 26
Microcephaly 9, primary, autosomal recessive 153 1 16
O'Donnell-Luria-Rodan syndrome 153 5 45
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 153 1 1
Pituitary hormone deficiency, combined, 2 153 2 26
Schöpf-Schulz-Passarge syndrome 153 3 5
Adams-Oliver syndrome 4 152 1 9
Age related macular degeneration 5 152 5 2
Cleft lip/palate-ectodermal dysplasia syndrome 152 1 10
Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency 152 2 2
Familial hypocalciuric hypercalcemia 1 152 1 32
Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 152 4 1
Hereditary spherocytosis type 2 152 5 44
Left-right axis malformations 152 1 3
Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy 152 2 3
ABCB11-related disorder 151 2 1
ABCB4-related disorder 151 2 4
Brunner syndrome 151 2 20
Epidermolysis bullosa, junctional 6, with pyloric atresia 151 2 5
FLNC-related disorder 151 2 5
Infantile cortical hyperostosis 151 3 12
Laryngo-onycho-cutaneous syndrome 151 2 8
Leber congenital amaurosis 7 151 2 12
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 151 2 3
Sarcotubular myopathy; Bardet-Biedl syndrome 11 151 1 7
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 150 2 1
COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 150 1 2
Cerebral cavernous malformation 3 150 4 21
Gaze palsy, familial horizontal, with progressive scoliosis 1 150 3 18
Lissencephaly due to LIS1 mutation 150 3 43
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 150 3 10
Piebaldism 150 4 21
TERT-related disorder 150 2 3
TRIO-related disorder 150 3 6
TTC8-related disorder 150 1 1
UCP3-related disorder 150 2 2
X-linked lymphoproliferative disease due to SH2D1A deficiency 150 2 23
Congenital defect of folate absorption 149 4 17
GRACILE syndrome 149 2 16
Hyperparathyroidism 1 149 3 9
Intellectual developmental disorder with seizures and language delay 149 2 51
MYH7-related disorder 149 5 10
Mitochondrial neurogastrointestinal encephalomyopathy 149 6 3
Pierson syndrome 149 2 18
Borjeson-Forssman-Lehmann syndrome 148 1 37
Ehlers-Danlos syndrome, arthrochalasia type, 2 148 2 21
Epidermolysis bullosa simplex due to plakophilin deficiency 148 1 7
Hereditary spherocytosis type 5 148 1 13
Imerslund-Grasbeck syndrome type 2 148 4 13
MYH6-related disorder 148 3 2
Senior-Loken syndrome 6 148 4 7
Symmetrical dyschromatosis of extremities 148 4 15
Benign recurrent intrahepatic cholestasis type 2 147 2 10
CEP164-related disorder 147 1 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 147 4 20
Hemochromatosis type 2A 147 2 23
Idiopathic basal ganglia calcification 1 147 7 42
Mandibulofacial dysostosis-microcephaly syndrome 147 1 72
Microcephaly 6, primary, autosomal recessive 147 2 21
Tumoral calcinosis, hyperphosphatemic, familial, 3 147 2 7
Xeroderma pigmentosum group A 147 3 25
CDH23-related disorder 146 3 5
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 146 2 1
Diffuse midline glioma, H3 K27M-mutant 146 34 2
Dilated cardiomyopathy 1AA 146 1 28
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 146 5 14
Hereditary spastic paraplegia 43 146 2 9
Oligosynaptic infertility; 46,XY disorder of sex development 146 1 1
Proline dehydrogenase deficiency; Schizophrenia 4 146 2 4
Townes-Brocks syndrome 1 146 1 53
Type 2 collagenopathy 146 1 6
X-linked intellectual disability, Cantagrel type 146 2 57
Amelogenesis imperfecta type 1G 145 2 21
Atypical hemolytic-uremic syndrome with C3 anomaly 145 1 16
Carnitine palmitoyl transferase II deficiency, myopathic form 145 2 21
Congenital disorder of glycosylation, type IIq 145 3 9
Developmental and epileptic encephalopathy, 28 145 9 38
FOCAD-related disorder 145 1 1
History of neurodevelopmental disorder 145 67 2
Lung adenocarcinoma 145 50 9
Macrocephaly-developmental delay syndrome 145 5 26
Progressive familial intrahepatic cholestasis type 3 145 4 29
Pyruvate dehydrogenase complex deficiency 145 5 6
TMEM165-congenital disorder of glycosylation 145 4 9
Autosomal dominant distal renal tubular acidosis 144 1 21
Carnitine palmitoyl transferase II deficiency, neonatal form 144 2 13
Cone-rod dystrophy 7 144 3 12
DNAH11-related disorder 144 3 2
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 144 2 18
LAMB2-related infantile-onset nephrotic syndrome 144 3 11
Lissencephaly due to TUBA1A mutation 144 3 67
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 144 4 33
Meckel syndrome, type 5 144 2 9
Metaphyseal chondrodysplasia, Schmid type 144 2 29
Osteoglophonic dysplasia 144 4 6
Renal hypomagnesemia 4 144 3 6
Vitelliform macular dystrophy 2 144 5 39
FBN2-related disorder 143 2 2
Inflammatory bowel disease 1 143 8 15
Retinitis pigmentosa 1 143 3 40
Schneckenbecken dysplasia 143 1 8
WFS1-related disorder 143 2 3
Waardenburg syndrome type 1 143 8 41
Wilson-Turner syndrome 143 2 13
ZFHX3-related disorder 143 1 3
Basal cell nevus syndrome 1 142 6 27
Charcot-Marie-Tooth disease type 4B3 142 2 24
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 142 2 8
Inherited ovarian cancer (without breast cancer) 142 12 4
Neuronopathy, distal hereditary motor, autosomal recessive 4 142 3 10
Autosomal recessive nonsyndromic hearing loss 28 141 5 46
CEDNIK syndrome 141 3 18
FMN2-related disorder 141 2 1
FSIP2-related disorder 141 2 1
Myoclonic dystonia 26 141 3 11
Patterned macular dystrophy 2 141 1 11
Pyruvate kinase deficiency of red cells 141 3 42
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 140 2 4
CACNA1H-related disorder 140 1 3
Capillary malformation-arteriovenous malformation 1 140 5 43
DICER1-related disorder 140 1 2
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 140 1 4
Lynch-like syndrome 140 4 1
Oculocutaneous albinism type 1A 140 3 44
Retinitis pigmentosa 45 140 2 29
Vitamin D-dependent rickets, type 1A 140 1 25
3-methylglutaconic aciduria type 5 139 2 9
Acute intermittent porphyria 139 5 43
Amyotrophic lateral sclerosis type 2, juvenile 139 2 20
Autosomal dominant nocturnal frontal lobe epilepsy 4 139 1 22
Autosomal recessive nonsyndromic hearing loss 31 139 1 9
BRIP1-related disorder 139 1 6
Cayman type cerebellar ataxia 139 1 9
Dystonia 16 139 3 18
Familial cylindromatosis 139 2 6
LZTR1-related disorder 139 2 4
Lissencephaly 4 139 3 9
Migraine, familial hemiplegic, 3 139 2 9
Platelet-type bleeding disorder 10 139 1 24
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 139 5 22
TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 139 2 3
Trigonocephaly 1 139 4 3
Warburg micro syndrome 2 139 1 17
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 138 3 12
Ciliary dyskinesia, primary, 40 138 8 29
Congenital myopathy 4B, autosomal recessive 138 2 16
Congenital nephrotic syndrome 138 2 2
Fanconi anemia complementation group B 138 1 20
Heimler syndrome 2 138 1 10
Hereditary spastic paraplegia 10 138 1 37
Hereditary spastic paraplegia 35 138 5 46
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 138 3 16
Microcephaly 4, primary, autosomal recessive 138 1 21
Peroxisome biogenesis disorder 6A (Zellweger) 138 2 11
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 138 2 3
Age related macular degeneration 9 137 1 3
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 137 1 2
Autosomal recessive congenital ichthyosis 3 137 4 21
Autosomal recessive limb-girdle muscular dystrophy type 2N 137 3 12
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 137 2 5
Brachydactyly type B1 137 1 13
DMD-related disorder 137 1 5
Interstitial lung disease 2 137 23 23
Jervell and Lange-Nielsen syndrome 1 137 4 19
Joubert syndrome 6 137 2 27
Metachondromatosis 137 2 15
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 137 5 26
Pyruvate dehydrogenase E3-binding protein deficiency 137 4 27
Sneddon syndrome; Deficiency of adenosine deaminase 2 137 1 3
Abnormal bleeding; Thrombocytopenia 136 72 2
Amyotrophic neuralgia 136 2 15
Cerebrooculofacioskeletal syndrome 2 136 1 9
Combined oxidative phosphorylation deficiency 44 136 3 19
Cone-rod dystrophy 12 136 3 19
DNHD1-related disorder 136 1 1
Episodic pain syndrome, familial, 2 136 2 22
FADD-related immunodeficiency 136 3 5
Hereditary intrinsic factor deficiency 136 1 12
Hypothyroidism due to TSH receptor mutations 136 4 23
Idiopathic hypereosinophilic syndrome 136 1 3
KMT2C-related disorder 136 2 3
Meckel syndrome, type 8; Joubert syndrome 24 136 1 5
ANO5-Related Muscle Diseases 135 3 2
Cholestasis, intrahepatic, of pregnancy, 3 135 4 13
Clark-Baraitser syndrome 135 2 49
Febrile seizures, familial, 11 135 2 6
Inflammatory bowel disease 135 10 6
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 135 11 49
Normal pregnancy 135 138 1
Primary ciliary dyskinesia 9 135 1 21
Saethre-Chotzen syndrome 135 6 19
TP53-related disorder 135 1 5
Wagner disease 135 2 22
Abnormality of the nervous system 134 100 3
Autosomal dominant nonsyndromic hearing loss 1 134 1 20
COL11A2-related disorder 134 1 5
Coffin-Siris syndrome 134 13 18
Cranium bifidum occultum 134 1 1
Crouzon syndrome 134 1 30
Ehlers-Danlos syndrome due to tenascin-X deficiency 134 3 43
Primary ciliary dyskinesia 13 134 3 23
TTC21B-related disorder 134 1 1
Xeroderma pigmentosum, group G 134 2 16
Agammaglobulinemia 133 3 2
Alternating hemiplegia of childhood 2 133 2 32
Autosomal recessive nonsyndromic hearing loss 18B 133 2 47
Cone-rod dystrophy 13 133 1 17
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 133 3 65
Developmental delay with or without dysmorphic facies and autism 133 2 45
Diabetes mellitus, transient neonatal, 2 133 3 10
Drash syndrome 133 2 13
Familial hypoparathyroidism 133 6 5
Hemolytic anemia 133 8 6
Nemaline myopathy 7 133 2 9
Nephrotic syndrome, type 4 133 2 21
Oculocutaneous albinism 133 4 8
Pallister-Hall syndrome 133 1 14
RTEL1-related disorder 133 2 3
Usher syndrome type 2D 133 1 8
3MC syndrome 1 132 4 22
Asphyxiating thoracic dystrophy 4 132 2 7
Cone dystrophy with supernormal rod response 132 1 26
Congenital myasthenic syndrome 15 132 2 4
Heterotaxy, visceral, 5, autosomal 132 3 18
Homozygous familial hypercholesterolemia 132 4 2
Lamellar ichthyosis 132 12 4
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 132 2 5
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 132 2 46
Peroxisome biogenesis disorder 4A (Zellweger) 132 5 25
TSC1-related disorder 132 1 2
Triglyceride storage disease with ichthyosis 132 3 17
Autosomal recessive omodysplasia 131 2 7
Bartsocas-Papas syndrome 1 131 1 10
Blepharophimosis, ptosis, and epicanthus inversus syndrome 131 2 31
Cockayne syndrome type 1 131 3 31
Congenital adrenal hyperplasia 131 11 2
DCTN1-related disorder 131 1 3
Exostoses, multiple, type 1 131 3 45
Fanconi anemia, complementation group S 131 4 11
Glucocorticoid deficiency 1 131 2 17
LEOPARD syndrome 1 131 2 31
Lathosterolosis 131 2 11
Loeys-Dietz syndrome 1 131 4 35
MC4R-related disorder 131 1 1
Medulloblastoma WNT activated 131 26 1
Multiple endocrine neoplasia 131 4 4
Neurodevelopmental disorder with hypotonia, seizures, and absent language 131 4 40
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 131 2 3
Pulmonary fibrosis 131 14 3
Rhizomelic chondrodysplasia punctata type 1 131 1 19
ABCA4-related retinopathy 130 3 7
Autosomal recessive Alport syndrome; Benign familial hematuria 130 1 3
Autosomal recessive nonsyndromic hearing loss 18A 130 2 17
Brugada syndrome 7 130 1 7
Cataract 36 130 3 14
Episodic ataxia type 5 130 2 5
Galloway-Mowat syndrome 1 130 3 28
Growth delay due to insulin-like growth factor type 1 deficiency 130 3 10
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 130 3 35
Plasminogen deficiency, type I; Angioedema, hereditary, 4 130 2 2
Primary ciliary dyskinesia 5 130 3 39
Rhizomelic chondrodysplasia punctata 130 5 3
Sphingomyelin/cholesterol lipidosis 130 5 7
TNXB-related disorder 130 2 2
Xeroderma pigmentosum, group D 130 3 24
Auriculocondylar syndrome 2 129 1 24
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 129 3 9
BBS7-related disorder 129 2 1
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 129 4 5
COL4A4-related disorder 129 1 3
Congenital stationary night blindness autosomal dominant 2 129 2 7
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 129 4 25
DNAH1-related disorder 129 1 2
FREM2-related disorder 129 1 2
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 129 2 1
Hypothyroidism, congenital, nongoitrous, 2 129 4 21
LRP1B-related disorder 129 1 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 129 3 27
Microcephaly 7, primary, autosomal recessive 129 1 25
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 129 1 55
PMS2-related disorder 129 1 3
Renal tubular dysgenesis of genetic origin 129 3 18
ARID1A-related disorder 128 3 1
Amelogenesis imperfecta 128 15 8
Brooke-Spiegler syndrome 128 2 11
Intellectual developmental disorder 61 128 5 52
Intellectual developmental disorder, autosomal dominant 64 128 3 46
UNC13A-related disorder 128 1 2
ALG11-congenital disorder of glycosylation 127 9 18
COL6A2-related disorder 127 2 5
DNAH5-related disorder 127 3 1
Factor XIII, A subunit, deficiency of 127 1 21
Intellectual disability, autosomal dominant 50 127 3 58
Keratosis follicularis 127 4 17
Laron-type isolated somatotropin defect 127 2 23
Metatropic dysplasia 127 2 15
Multiple cutaneous and mucosal venous malformations 127 1 14
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 127 1 5
Pseudohypoaldosteronism type 2E 127 2 8
Thrombomodulin-related bleeding disorder 127 1 8
Action myoclonus-renal failure syndrome 126 3 22
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 126 2 11
Arrhythmogenic right ventricular dysplasia 12 126 2 15
Autosomal dominant nonsyndromic hearing loss 10 126 3 19
Bardet-Biedl syndrome 13 126 2 12
Bardet-Biedl syndrome 6 126 2 20
Branchiootic syndrome 1 126 3 19
Congenital fibrosis of extraocular muscles type 1 126 2 18
Craniolenticulosutural dysplasia 126 2 10
Diaphanospondylodysostosis 126 1 12
Endometrial carcinoma; Familial adenomatous polyposis 4 126 3 2
LRP5-related disorder 126 1 2
Martsolf syndrome 126 2 7
Meckel syndrome, type 3 126 2 22
Mitochondrial complex II deficiency, nuclear type 1 126 6 22
Renal hypomagnesemia 5 with ocular involvement 126 2 17
SYNE2-related disorder 126 1 1
Adenine phosphoribosyltransferase deficiency 125 4 14
Autosomal recessive spinocerebellar ataxia 10 125 2 32
COL5A1-related disorder 125 2 1
Carnitine deficiency 125 1 2
Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 125 4 2
Coffin-Siris syndrome 6 125 6 42
Diamond-Blackfan anemia 5 125 4 11
Dyslipidemia 125 2 1
Dystonia 5 125 5 33
Early onset severe obesity 125 25 1
IFT140-related disorder 125 3 1
Mitochondrial DNA depletion syndrome, myopathic form 125 2 26
Naxos disease 125 2 9
Nephronophthisis 8 125 2 1
Renal dysplasia, cystic, susceptibility to 125 2 12
Steroid-resistant nephrotic syndrome 125 9 6
Syndromic X-linked intellectual disability Najm type 125 3 54
ATP8B1-related disorder 124 2 2
Autosomal recessive congenital ichthyosis 5 124 2 19
Diamond-Blackfan anemia 6 124 3 26
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 124 2 5
GLI3-related disorder 124 1 4
KMT2A-related disorder 124 2 1
Nephronophthisis 3 124 2 21
Polydactyly of a triphalangeal thumb 124 5 4
Retinitis pigmentosa 4 124 1 23
Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 124 1 3
APOB-related disorder 123 2 3
ARHGEF28-related disorder 123 2 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 123 3 3
Corticosterone 18-monooxygenase deficiency 123 1 10
Dilated cardiomyopathy 1U 123 2 4
Global developmental delay with or without impaired intellectual development 123 6 31
Hemolytic anemia due to glucophosphate isomerase deficiency 123 1 16
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 123 1 35
Isolated Nonsyndromic Congenital Heart Disease 123 1 1
Maturity-onset diabetes of the young type 11 123 4 19
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 123 7 21
Multiple mitochondrial dysfunctions syndrome 1 123 2 13
SPEN-related disorder 123 1 1
Transcobalamin I deficiency 123 1 1
Weiss-Kruszka syndrome 123 3 45
Cataract 5 multiple types 122 4 14
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 122 2 19
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 122 4 31
Hypogonadotropic hypogonadism 3 with or without anosmia 122 1 39
Intellectual developmental disorder 62 122 3 42
MYBPC3-related disorder 122 1 7
Perrault syndrome 1 122 9 20
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 122 2 16
Seckel syndrome 4 122 2 9
Sitosterolemia 2 122 3 24
Spinocerebellar ataxia type 14 122 1 38
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 122 6 26
CACNA1C-related disorder 121 1 8
Charcot-Marie-Tooth disease type 4B1 121 1 36
Developmental delay, impaired speech, and behavioral abnormalities 121 3 37
Hypophosphatemic rickets, autosomal recessive, 1 121 1 13
NIPBL-related disorder 121 1 1
NOTCH3-related disorder 121 2 2
Neuronopathy, distal hereditary motor, type 5A 121 3 14
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 121 2 7
Rhizomelic chondrodysplasia punctata type 2 121 2 17
TRRAP-related disorder 121 2 2
TWIST1-related craniosynostosis 121 5 13
Warburg micro syndrome 1 121 2 29
Wiskott-Aldrich syndrome 121 3 29
COL4A3-related disorder 120 2 3
Congenital bile acid synthesis defect 2 120 1 17
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 120 3 23
Familial visceral amyloidosis, Ostertag type 120 4 22
Geleophysic dysplasia 120 7 3
Hecht syndrome 120 3 12
Heterotaxy, visceral, 1, X-linked 120 3 14
Hyperparathyroidism 2 with jaw tumors 120 2 13
Inherited MMR deficiency (Lynch syndrome) 120 4 4
Intellectual disability, autosomal dominant 39 120 2 57
Intellectual disability, autosomal recessive 13 120 2 43
Maturity-onset diabetes of the young type 7 120 2 14
NEK1-related disorder 120 1 1
Noonan syndrome 5 120 3 37
OTOG-related disorder 120 1 1
PEX6-related disorder 120 1 2
RELN-related disorder 120 4 2
Radio-Tartaglia syndrome 120 1 48
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 120 3 51
Aortic valve disease 1; Adams-Oliver syndrome 5 119 3 12
Bartter syndrome 119 5 3
Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 119 1 2
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 119 2 37
DST-related disorder 119 3 4
Diaphyseal medullary stenosis-bone malignancy syndrome 119 2 8
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 119 3 9
FLCN-related disorder 119 1 1
Heterotopia, periventricular, X-linked dominant 119 3 46
Intellectual disability, autosomal dominant 9 119 3 50
MLH1-related disorder 119 3 1
Mitochondrial DNA depletion syndrome 8a 119 3 17
POMC-related disorder 119 2 1
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 119 2 12
ALS2-related disorder 118 2 4
Cutis laxa 118 9 4
Deficiency of butyrylcholinesterase 118 3 25
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 118 6 30
Lamb-Shaffer syndrome 118 8 57
SCN1A-related disorder 118 2 6
Thyroid dyshormonogenesis 1 118 1 15
Warburg micro syndrome 3 118 3 9
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 117 3 8
Centronuclear myopathy 117 21 9
Combined oxidative phosphorylation defect type 11 117 1 28
Cone-rod synaptic disorder, congenital nonprogressive 117 5 16
Congenital muscular dystrophy with intellectual disability and severe epilepsy 117 4 9
Congenital stationary night blindness 1D 117 1 13
DYNC2H1-related disorder 117 1 3
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 117 2 16
Dystonia 28, childhood-onset 117 3 45
Gaucher disease type I 117 4 41
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 117 1 28
HSPG2-related disorder 117 3 2
Hypotrichosis 6 117 1 12
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 117 1 6
Melanoma and neural system tumor syndrome 117 3 5
Multiple endocrine neoplasia type 2B 117 2 20
NPHP3-related disorder 117 3 4
Neuroblastoma, susceptibility to, 2 117 2 6
Niemann-Pick disease, type C 117 2 2
Retinal macular dystrophy type 2 117 1 8
Spinocerebellar ataxia type 35 117 1 29
Stargardt disease 4 117 1 7
Trimethylaminuria 117 3 20
Van der Woude syndrome 1 117 4 24
Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 116 3 5
Cardiofaciocutaneous syndrome 4 116 2 27
DNAH2-related disorder 116 1 1
Dicarboxylic aminoaciduria 116 2 6
Foveal hypoplasia 1 116 3 6
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 116 1 46
Intellectual disability, autosomal dominant 56 116 5 54
Isolated microphthalmia 3 116 3 8
MDN1-related disorder 116 2 1
Sifrim-Hitz-Weiss syndrome 116 2 52
Trichohepatoenteric syndrome 2 116 3 24
Tubulinopathy 116 3 5
COL4A2-related disorder 115 1 4
Chuvash polycythemia 115 3 13
Dilated cardiomyopathy 1KK; MYPN-related myopathy 115 2 5
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 115 1 4
Dilated cardiomyopathy 1P 115 2 14
Ectopia lentis et pupillae 115 2 10
Factor VII deficiency 115 1 11
KIF1A-related disorder 115 2 5
MORM syndrome; Joubert syndrome 1 115 1 3
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Neurodegeneration with ataxia and late-onset optic atrophy 115 1 3
PEX1-related disorder 115 3 3
Parkinson disease, late-onset 115 27 30
Pulmonary hypertension, neonatal, susceptibility to 115 1 1
SCN5A-related disorder 115 2 10
Arthrogryposis, distal, with impaired proprioception and touch 114 4 36
Atrioventricular septal defect, susceptibility to, 2 114 4 9
Beck-Fahrner syndrome 114 1 38
CELSR1-related disorder 114 4 1
Charcot-Marie-Tooth disease axonal type 2N 114 2 31
Congenital contractures of the limbs and face, hypotonia, and developmental delay 114 2 39
Familial multiple trichoepitheliomata 114 2 3
Hermansky-Pudlak syndrome 6 114 3 25
Hypobetalipoproteinemia 114 3 4
Intellectual disability, autosomal recessive 1 114 1 17
Lethal polymalformative syndrome, Boissel type 114 1 11
Long QT syndrome 12 114 6 17
Methylcrotonyl-CoA carboxylase deficiency 114 2 4
Osteogenesis imperfecta type 13 114 3 16
Spondylometaphyseal dysplasia, Kozlowski type 114 2 12
TMEM67-related disorder 114 1 5
TRPC5-related disorder 114 1 1
ANK2-related disorder 113 3 2
Abnormality of neuronal migration 113 77 2
Acromesomelic dysplasia 1, Maroteaux type 113 3 27
Autosomal dominant keratitis 113 3 2
Axenfeld-Rieger syndrome type 1 113 5 14
Cone dystrophy 4 113 1 25
DCHS2-related disorder 113 1 1
FANCM-related disorder 113 2 2
FLNB-related disorder 113 1 4
Factor 5 and Factor VIII, combined deficiency of, 2 113 2 4
Hereditary spastic paraplegia 8 113 8 22
Long QT syndrome 6 113 4 13
MGAT2-congenital disorder of glycosylation 113 2 12
Neuronopathy, distal hereditary motor, autosomal dominant 8 113 2 7
PTEN-related disorder 113 5 9
Perry syndrome 113 1 14
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 113 2 15
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 113 4 6
Sorsby fundus dystrophy 113 1 8
Spondylocostal dysostosis 1, autosomal recessive 113 5 17
ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 112 2 2
Atypical hemolytic-uremic syndrome; Complement component 3 deficiency; C3 glomerulonephritis 112 1 1
Autosomal dominant nonsyndromic hearing loss 3A 112 1 31
Autosomal recessive limb-girdle muscular dystrophy type 2K 112 1 11
BARD1-related cancer predisposition 112 1 3
CIC-related disorder 112 1 1
Corticosterone methyloxidase type 2 deficiency 112 1 8
Elliptocytosis 1 112 1 14
Epiphyseal dysplasia, multiple, 2 112 3 15
Hereditary motor and sensory neuropathy with optic atrophy 112 4 8
Hereditary spastic paraplegia 72 112 2 7
Immunodeficiency 37 112 2 3
Isolated microphthalmia 6 112 2 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 112 4 8
Self-limited epilepsy with centrotemporal spikes 112 39 2
Usher syndrome type 2 112 7 9
VWF-related disorder 112 1 4
Waardenburg syndrome type 4C 112 2 24
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 111 1 2
Autosomal dominant hypocalcemia 1 111 1 24
Cerebral palsy, spastic quadriplegic, 2 111 3 12
Charcot-Marie-Tooth disease type 2A2 111 3 55
Congenital heart disease 111 58 14
Familial pulmonary capillary hemangiomatosis 111 3 16
Intellectual disability, autosomal recessive 5 111 2 24
Joubert syndrome with renal defect 111 4 11
Maple syrup urine disease, mild variant 111 2 4
NSD1-related disorder 111 1 1
Periventricular nodular heterotopia 7 111 3 31
Peroxisome biogenesis disorder 2A (Zellweger) 111 1 8
SAMD9-related disorder 111 1 3
Sideroblastic anemia 2 111 2 15
carboxymethyl-dextran-A2-gadolinium-DOTA 111 3 1
ABCG8-related disorder 110 2 1
Autosomal recessive congenital ichthyosis 10 110 2 24
Branched-chain keto acid dehydrogenase kinase deficiency 110 2 13
Congenital myasthenic syndrome 4C 110 12 25
Erythrocyte AMP deaminase deficiency 110 1 5
Factor V and factor VIII, combined deficiency of, type 1 110 5 9
Hereditary spastic paraplegia 62 110 2 8
MSH3-related disorder 110 2 1
MYOM2-related disorder 110 2 1
Microcephaly, seizures, and developmental delay 110 2 27
Multiple epiphyseal dysplasia type 1 110 2 30
Seckel syndrome 5 110 2 8
Severe intellectual disability-progressive spastic diplegia syndrome 110 3 63
X-linked mixed hearing loss with perilymphatic gusher 110 1 34
Allan-Herndon-Dudley syndrome 109 4 46
Beta-thalassemia HBB/LCRB 109 9 35
Bruck syndrome 2 109 2 22
Charcot-Marie-Tooth disease type 1B 109 3 29
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 109 2 22
GM1 gangliosidosis 109 2 7
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 109 3 25
Intellectual developmental disorder with autistic features and language delay, with or without seizures 109 3 32
Multicentric osteolysis nodulosis arthropathy spectrum 109 2 11
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 109 5 41
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 109 1 5
Scapuloperoneal spinal muscular atrophy 109 2 5
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 109 2 4
AXIN2-related disorder 108 1 4
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 108 2 28
Autosomal recessive distal renal tubular acidosis 108 4 11
CDH1-related disorder 108 2 1
DYSF-related disorder 108 2 6
Desmosterolosis 108 1 15
FGFR3-related disorder 108 1 6
Familial spontaneous pneumothorax 108 1 10
Hyperekplexia 1 108 3 39
MYH3-related disorder 108 2 7
Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2; Polycystic kidney disease 8 108 3 2
Patterned macular dystrophy 1 108 1 19
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 108 1 17
RYR1-related myopathy 108 2 11
RYR2-related disorder 108 3 5
STT3B-congenital disorder of glycosylation 108 4 5
Usher syndrome type 3 108 1 17
Atrial fibrillation, familial, 3 107 2 7
Autosomal dominant nonsyndromic hearing loss 2A 107 3 29
Brachyrachia (short spine dysplasia) 107 2 3
Combined oxidative phosphorylation defect type 7; Spastic paraplegia 107 1 1
Congenital dyserythropoietic anemia, type II 107 2 25
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 107 46 2
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 107 9 8
Epidermolysis bullosa simplex 107 5 5
Familial adenomatous polyposis 2; Gastric cancer 107 2 4
Histidinemia 107 1 5
Hypertrophic cardiomyopathy 6 107 2 21
Lethal congenital contractural syndrome Finnish type 107 2 1
Noonan syndrome 10 107 2 46
Prolidase deficiency 107 1 27
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 107 2 3
Tietz syndrome 107 2 7
ABCC8-related disorder 106 2 4
Bardet-Biedl syndrome 5 106 2 23
Beckwith-Wiedemann syndrome; IMAGe syndrome 106 1 6
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 106 1 5
CHEK2-related disorder 106 1 2
Citrullinemia, type II, adult-onset 106 3 6
Currarino triad 106 4 16
DCHS1-related disorder 106 2 2
Dermatofibrosis lenticularis disseminata 106 3 18
Epilepsy, idiopathic generalized, susceptibility to, 13 106 1 6
Hereditary retinoblastoma 106 1 3
Huntington disease-like 1 106 2 3
Intellectual developmental disorder with dysmorphic facies and ptosis 106 2 44
Low phospholipid associated cholelithiasis 106 2 15
Mast syndrome 106 1 19
NEFH-related disorder 106 1 1
SON-related disorder 106 2 1
Urofacial syndrome type 1 106 1 12
Aicardi-Goutieres syndrome 6 105 3 28
Alacrima, achalasia, and intellectual disability syndrome 105 2 10
CSMD1-related disorder 105 4 1
Fanconi anemia complementation group J; Ovarian cancer 105 1 1
Hypotonia, ataxia, and delayed development syndrome 105 1 51
Jalili syndrome 105 1 18
MAP1B-related disorder 105 2 1
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 105 1 2
Oculocutaneous albinism type 4 105 2 29
Otofaciocervical syndrome 1 105 1 7
RAB23-related Carpenter syndrome 105 2 14
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 105 1 4
Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 105 1 4
Sick sinus syndrome 2, autosomal dominant 105 3 13
Steel syndrome 105 2 26
Usher syndrome type 1G 105 3 20
X-linked intellectual disability-cerebellar hypoplasia syndrome 105 2 50
ANKRD26-related disorder 104 2 1
Acrodysostosis 1 with or without hormone resistance 104 2 11
Amyotrophic lateral sclerosis type 10 104 9 26
Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 104 1 2
Autosomal recessive congenital ichthyosis 6 104 3 20
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 104 2 3
Conotruncal heart malformations 104 9 9
Cutis laxa, autosomal dominant 1 104 1 13
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 104 2 6
Hypouricemia, renal, 2 104 3 20
ITGB4-related disorder 104 2 1
Jervell and Lange-Nielsen syndrome 2 104 1 11
MAPT-Related Spectrum Disorders 104 1 2
Myopathy, lactic acidosis, and sideroblastic anemia 1 104 3 18
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 104 2 34
PPARG-related disorder 104 2 2
Short QT syndrome type 2 104 2 5
Short QT syndrome type 3 104 2 3
Autosomal recessive nonsyndromic hearing loss 63 103 7 20
COG6-congenital disorder of glycosylation 103 1 23
Developmental delay with autism spectrum disorder and gait instability 103 3 29
Episodic ataxia type 6 103 1 14
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 103 2 8
Hypertrichotic osteochondrodysplasia Cantu type 103 3 28
Melanoma, cutaneous malignant, susceptibility to, 1 103 5 6
NPHP1-related disorder 103 2 3
Osteogenesis imperfecta type 11 103 1 24
Primary ciliary dyskinesia 16 103 3 7
Sanfilippo syndrome 103 6 3
Vitamin D hydroxylation-deficient rickets, type 1B 103 2 17
Adams-Oliver syndrome 2 102 1 32
Arthrogryposis, renal dysfunction, and cholestasis 1 102 4 28
Autosomal recessive nonsyndromic hearing loss 24 102 1 21
Autosomal recessive osteopetrosis 7 102 3 11
Charcot-Marie-Tooth disease type 2D 102 1 17
Chondrosarcoma 102 1 5
Cranioectodermal dysplasia 4 102 1 8
DSP-related disorder 102 1 4
Developmental and epileptic encephalopathy, 1 102 36 35
Diabetes insipidus, nephrogenic, X-linked 102 2 26
EEM syndrome 102 1 8
Hydrocephalus, nonsyndromic, autosomal recessive 2 102 4 37
Infantile GM1 gangliosidosis 102 2 27
Intellectual disability, X-linked 49 102 1 37
Microcytic anemia 102 1 7
NPHP3-related Meckel-like syndrome 102 2 9
Oculocutaneous albinism type 3 102 2 19
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 102 1 2
Sialic acid storage disease, severe infantile type 102 3 21
Spinocerebellar ataxia type 11 102 1 22
TJP2-related disorder 102 1 2
XIRP2-related disorder 102 1 1
Autosomal recessive osteopetrosis 5 101 2 9
CPE-related disorder 101 2 1
CTCF-related neurodevelopmental disorder 101 4 46
Charcot-Marie-Tooth disease type 4J 101 1 20
Chronic infantile neurological, cutaneous and articular syndrome 101 1 13
DOCK6-related disorder 101 1 1
Diabetic retinopathy 101 2 1
Familial amyloid nephropathy with urticaria AND deafness 101 1 11
Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis 101 3 1
Familial hyperthyroidism due to mutations in TSH receptor 101 2 11
Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 101 1 3
Hypercholanemia, familial 1 101 4 7
Limb-girdle muscular dystrophy 101 39 12
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 101 4 7
Microcephaly and chorioretinopathy 1 101 2 35
Mitochondrial complex III deficiency nuclear type 2 101 5 22
Moyamoya disease 2 101 5 28
Nephrogenic diabetes insipidus 101 3 7
Polymerase proofreading-related adenomatous polyposis 101 3 5
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 101 4 2
Renal-hepatic-pancreatic dysplasia 1 101 2 9
Retinitis pigmentosa 38 101 5 35
SCN2A-related disorder 101 1 9
SETBP1-related disorder 101 1 5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 101 4 21
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 101 2 30
Stromme syndrome 101 2 26
Troyer syndrome 101 3 19
Atrial fibrillation, familial, 9 100 2 3
Charcot-Marie-Tooth disease recessive intermediate A 100 2 13
Dilated cardiomyopathy 1HH 100 2 22
Hypertrophic cardiomyopathy 11 100 1 17
Intellectual disability, autosomal dominant 29 100 2 48
LAMA2-related disorder 100 3 5
MET-related disorder 100 1 1
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 100 2 11
Pleuropulmonary blastoma 100 4 14
SEPN1-related disorder 100 1 1
Batten-Turner congenital myopathy 99 3 4
Brain-lung-thyroid syndrome 99 3 21
Complement component 5 deficiency; Eculizumab, poor response to 99 2 2
Fibromatosis, gingival, 1; Noonan syndrome 4 99 2 4
Global developmental delay with speech and behavioral abnormalities 99 1 34
Greenberg dysplasia 99 1 8
Isolated thoracic aortic aneurysm 99 16 1
MLH3-related disorder 99 1 2
Microcephaly, epilepsy, and diabetes syndrome 99 4 3
NCOR2-related disorder 99 2 1
Neuronal ceroid lipofuscinosis 10 99 3 19
Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension 99 2 1
Asphyxiating thoracic dystrophy 5 98 1 5
Autosomal dominant striatal neurodegeneration type 1 98 1 8
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 98 2 3
COL4A5-related disorder 98 1 1
Cataract 33 98 2 4
Ceroid lipofuscinosis, neuronal, 6A 98 2 35
Cone-rod dystrophy 3 98 3 27
Congenital lactase deficiency 98 2 13
Leber congenital amaurosis 14 98 2 13
MYO18B-related disorder 98 1 1
Non-obstructive azoospermia 98 36 11
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 98 3 7
Occipital pachygyria and polymicrogyria 98 2 23
PRR12-related disorder 98 2 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 98 2 7
SETD1B-related disorder 98 1 1
SIN3A-related intellectual disability syndrome due to a point mutation 98 3 45
Spastic ataxia 98 65 6
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 98 1 4
8q24.3 microdeletion syndrome 97 3 51
Autosomal recessive axonal neuropathy with neuromyotonia 97 1 21
Beare-Stevenson cutis gyrata syndrome 97 1 9
Congenital adrenal hypoplasia, X-linked 97 5 29
Diamond-Blackfan anemia 1 97 5 26
Glucocorticoid deficiency with achalasia 97 3 36
Heterotaxy, visceral, 8, autosomal 97 1 24
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 97 5 36
LYST-related disorder 97 2 1
Lethal tight skin contracture syndrome 97 5 11
MTOR-related disorder 97 1 2
MYO15A-related disorder 97 1 1
Methylmalonate semialdehyde dehydrogenase deficiency 97 2 13
Neuronopathy, distal hereditary motor, type 7B 97 1 10
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 97 3 11
Retinitis pigmentosa 19 97 3 24
SMPD1-related disorder 97 3 1
Spinocerebellar ataxia type 5 97 1 40
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 97 2 11
Alkuraya-Kucinskas syndrome 96 1 31
Dilated cardiomyopathy 1R 96 2 20
FAT2-related disorder 96 3 1
Geroderma osteodysplastica 96 1 24
Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 96 2 1
Intellectual disability, autosomal dominant 57 96 6 44
Joubert syndrome 2 96 1 13
PKD2-related disorder 96 2 1
Sialuria 96 2 14
Tourette syndrome 96 4 9
Trichorhinophalangeal dysplasia type I 96 6 44
Waardenburg syndrome 96 13 9
Abnormal brain morphology 95 77 5
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 95 1 2
COL12A1-related disorder 95 2 3
COL1A2-related disorder 95 1 6
Coxopodopatellar syndrome 95 2 22
Developmental and epileptic encephalopathy, 46 95 4 34
Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 95 1 1
Fanconi anemia complementation group N 95 1 16
Hyperinsulinemic hypoglycemia, familial, 2 95 1 20
Hypodontia 95 7 6
Late-onset retinal degeneration 95 2 12
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 95 2 42
Miller syndrome 95 2 18
Mitochondrial complex I deficiency, nuclear type 16 95 3 27
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 95 2 10
Myoepithelial tumor 95 95 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 95 6 43
Phytanic acid storage disease 95 3 27
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 95 4 15
SCAPER-related disorder 95 2 1
SDHA-related disorder 95 1 4
Stargardt disease 3 95 2 7
AHDC1-related disorder 94 1 1
Aarskog syndrome 94 2 39
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 94 4 3
Decreased circulating carnitine concentration 94 1 2
FREM1-related disorder 94 2 5
Factor VII-activating protease marburg I 94 3 1
HUWE1-related disorder 94 3 2
Hereditary coproporphyria 94 5 15
Infantile onset spinocerebellar ataxia 94 2 17
Mitochondrial complex IV deficiency, nuclear type 3 94 3 8
Muscular dystrophy, limb-girdle, autosomal recessive 23 94 5 36
Osteogenesis imperfecta type 6 94 3 30
PDGFRA-related disorder 94 2 1
Retinitis pigmentosa 11 94 4 28
TCOF1-related disorder 94 1 1
Timothy syndrome 94 1 30
UBR4-related disorder 94 6 2
ALDH18A1-related de Barsy syndrome 93 2 24
Apparent mineralocorticoid excess 93 1 18
Autosomal dominant aplasia and myelodysplasia 93 2 13
Autosomal dominant nonsyndromic hearing loss 20 93 2 25
Autosomal dominant nonsyndromic hearing loss 5 93 3 21
Behavior disorder 93 2 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 93 2 45
Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive 93 1 1
Chudley-McCullough syndrome 93 4 27
Cognitive impairment with or without cerebellar ataxia 93 2 33
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 93 1 2
Combined PSAP deficiency 93 2 12
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 93 2 2
Deafness-lymphedema-leukemia syndrome 93 2 14
Developmental and epileptic encephalopathy 98 93 2 16
FG syndrome 1 93 4 21
Isolated Coronal Synostosis 93 1 1
KIF1B-related disorder 93 3 1
MYH11-related disorder 93 2 1
Noonan syndrome 6 93 2 22
Orofacial cleft 8 93 2 2
PDZD2-related disorder 93 2 2
Primary ciliary dyskinesia 10 93 3 14
Pseudohyperaldosteronism type 2; Autosomal dominant pseudohypoaldosteronism type 1 93 1 2
Schnyder crystalline corneal dystrophy 93 3 6
Surfactant metabolism dysfunction, pulmonary, 1 93 3 17
UGT1A1-related disorder 93 1 4
VCAN-related disorder 93 1 1
Atypical hemolytic-uremic syndrome with I factor anomaly 92 3 13
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 92 1 33
Autosomal recessive multiple pterygium syndrome 92 3 26
Autosomal recessive nonsyndromic hearing loss 35 92 1 18
CUL4B-related disorder 92 2 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 92 3 7
Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 92 2 1
Congenital heart defects, multiple types, 4 92 4 19
Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 92 3 4
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 92 5 33
FAT3-related disorder 92 1 1
Left ventricular noncompaction cardiomyopathy 92 41 7
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 92 1 5
NLRP2-related disorder 92 1 1
Neonatal severe primary hyperparathyroidism 92 1 15
Paroxysmal nonkinesigenic dyskinesia 1 92 4 27
RECQL5-related disorder 92 2 1
Spinocerebellar ataxia type 28 92 2 25
Van der Woude syndrome 2 92 4 17
X-linked myopathy with excessive autophagy 92 2 11
ABCC6-related disorder 91 2 3
ALK-related disorder 91 1 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 91 3 31
Bronchiectasis with or without elevated sweat chloride 2 91 3 9
CRB2-related disorder 91 1 2
Congenital factor VII deficiency 91 1 27
Congenital isolated adrenocorticotropic hormone deficiency 91 2 18
Congenital muscular dystrophy due to LMNA mutation 91 3 20
Congenital myasthenic syndrome 9 91 1 11
DeSanto-Shinawi syndrome due to WAC point mutation 91 3 43
Developmental cataract 91 47 9
Glanzmann thrombasthenia 1 91 5 16
Hemolytic anemia due to glutathione reductase deficiency 91 3 9
Holoprosencephaly 4 91 4 14
Intellectual disability, X-linked, syndromic 33 91 1 35
Intellectual disability, autosomal dominant 30 91 4 41
Intellectual disability, autosomal recessive 65 91 2 41
MED12-Related Disorders 91 2 6
Oculodentodigital dysplasia 91 1 18
PCLO-related disorder 91 1 1
PTPRS-related disorder 91 1 1
Paget disease of bone 2, early-onset 91 3 5
Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 91 2 2
RNF213-related disorder 91 2 1
SAMD9L-related disorder 91 1 3
Sialic acid storage disease, severe infantile type; Salla disease 91 3 6
Tooth agenesis, selective, 3 91 3 17
Adult polyglucosan body disease 90 1 16
Autosomal recessive nonsyndromic hearing loss 16 90 7 38
Bethlem myopathy 2 90 5 30
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 90 2 6
Ectopic tissue 90 1 1
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 90 1 4
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 90 2 5
Intellectual disability, autosomal recessive 7 90 1 22
NBAS-related disorder 90 2 1
Osteopetrosis with renal tubular acidosis 90 2 17
Paget disease of bone 3 90 4 6
Autosomal dominant nonsyndromic hearing loss 56 89 3 17
Autosomal recessive early-onset Parkinson disease 7 89 1 16
Autosomal recessive limb-girdle muscular dystrophy type 2L 89 1 37
BDNF-related disorder 89 1 1
CACNA1S-related disorder 89 1 1
Catecholaminergic polymorphic ventricular tachycardia 5 89 1 17
Choroidal dystrophy, central areolar 2 89 1 11
Congenital myotonia, autosomal dominant form 89 4 43
Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 89 1 2
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 89 3 3
Dyskinesia with orofacial involvement, autosomal dominant 89 1 31
Hypogonadotropic hypogonadism 89 25 8
Intellectual disability, autosomal dominant 22 89 7 46
Joubert syndrome 24 89 2 12
KDM6B-related disorder 89 2 2
KIT-related disorder 89 1 3
LDLR-related disorder 89 2 1
MED13L-related disorder 89 1 4
Meacham syndrome 89 2 3
Microcephalic primordial dwarfism due to RTTN deficiency 89 1 24
Microcytic anemia with liver iron overload 89 1 8
Noonan syndrome-like disorder with loose anagen hair 1 89 2 39
Otospondylomegaepiphyseal dysplasia, autosomal dominant 89 2 16
Pilarowski-Bjornsson syndrome 89 3 31
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 89 3 7
Radial aplasia-thrombocytopenia syndrome 89 10 39
SPTAN1-related disorder 89 1 5
ALPK3-related disorder 88 2 2
Arthrogryposis, renal dysfunction, and cholestasis 2 88 2 14
Autosomal dominant nonsyndromic hearing loss 25 88 1 13
Autosomal recessive nonsyndromic hearing loss 84B 88 1 40
BARD1-related disorder 88 1 1
Branchiootorenal syndrome 1 88 3 37
Chopra-Amiel-Gordon syndrome 88 2 32
Coffin-Lowry syndrome 88 1 44
Combined immunodeficiency due to partial RAG1 deficiency 88 1 4
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 88 4 29
EHHADH-related disorder 88 1 1
LRRK1-related disorder 88 2 1
MYO7B-related disorder 88 3 1
Meier-Gorlin syndrome 1 88 5 22
Multiple synostoses syndrome 3 88 1 6
Poirier-Bienvenu neurodevelopmental syndrome 88 4 45
Porphobilinogen synthase deficiency 88 2 12
Primary ciliary dyskinesia 11 88 4 22
SQSTM1-related disorder 88 2 3
Sengers syndrome 88 2 19
Au-Kline syndrome 87 3 45
Autosomal recessive nonsyndromic hearing loss 67 87 2 17
Baraitser-winter syndrome 2 87 2 27