User:Magnus Manske/Mix'n'match report/870
A report for the Mix'n'match tool. This page will be replaced regularly! Please note:
- If you fix something from this list on Wikidata, please fix it on Mix'n'match as well, if applicable. Otherwise, the error might be re-introduced from there.
- 'External ID' refers to the IDs in the original (external) catalog; the same as the statement value for the associated property.
Orphanet edit
rare diseases
Unknown external ID edit
Different items for the same external ID edit
- 747 enties have different items on Mix'n'match and Wikidata. Too many to show individually.
Same item for multiple external IDs in Mix'n'match edit
| Item in Mix'n'Match | Mix'n'match entry | External ID | External label |
|---|---|---|---|
| Addison's disease (Q8282) | 35039772 | 101959 | Chronic primary adrenal insufficiency |
| 35038556 | 85138 | Addison disease | |
| HIV/AIDS (Q12199) | 35035746 | 310050 | Acquired immunodeficiency |
| 35035096 | 319269 | Susceptibility/resistance to HIV infection | |
| hyperthyroidism (Q16499) | 35031620 | 181399 | Rare hyperthyroidism |
| 35040037 | 99819 | Familial gestational hyperthyroidism | |
| hemophilia (Q134003) | 35031204 | 448 | Hemophilia |
| 35039634 | 98429 | Rare coagulation disorder | |
| ovarian cancer (Q172341) | 35034292 | 213500 | Ovarian cancer |
| 35034306 | 213517 | Familial ovarian cancer | |
| sickle-cell disease (Q185034) | 35030630 | 232 | Sickle cell anemia |
| 35033657 | 275752 | Sickle cell disease and related diseases | |
| Zellweger syndrome (Q189167) | 35031899 | 1271 | Bowen syndrome |
| 35030733 | 912 | Zellweger syndrome | |
| Huntington's disease (Q190564) | 35032619 | 248111 | Juvenile Huntington disease |
| 35030621 | 399 | Huntington disease | |
| hydrocephalus (Q193003) | 35030686 | 2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius |
| 35030974 | 2185 | Congenital hydrocephalus | |
| Turner syndrome (Q202849) | 35030543 | 881 | Turner syndrome |
| 35039185 | 99226 | Monosomy X | |
| visceral heterotaxy (Q203115) | 35032107 | 157769 | Situs ambiguus |
| 35036966 | 450 | Heterotaxia | |
| pancreatic cancer (Q212961) | 35034660 | 1333 | Familial pancreatic carcinoma |
| 35034409 | 217074 | Rare carcinoma of pancreas | |
| fragile X syndrome (Q221472) | 35036155 | 449291 | Symptomatic form of fragile X syndrome in female carrier |
| 35030638 | 908 | Fragile X syndrome | |
| cleft lip and cleft palate (Q222634) | 35030794 | 1991 | Cleft lip with or without cleft palate |
| 35031376 | 199306 | Cleft lip/palate | |
| Bruton-type agammaglobulinemia (Q283108) | 35034654 | 229717 | Isolated agammaglobulinemia |
| 35030642 | 47 | X-linked agammaglobulinemia | |
| Schindler disease (Q310335) | 35031164 | 3137 | Alpha-N-acetylgalactosaminidase deficiency |
| 35038306 | 79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | |
| Langerhans-cell histiocytosis (Q374036) | 35034599 | 389 | Langerhans cell histiocytosis |
| 35040011 | 99874 | Adult pulmonary Langerhans cell histiocytosis | |
| amniotic band constriction (Q473753) | 35031825 | 1034 | Amniotic bands |
| 35035529 | 295000 | Constriction rings syndrome | |
| osteonecrosis (Q503629) | 35036534 | 399158 | Osteonecrosis |
| 35036533 | 399164 | Avascular necrosis | |
| Beckwith-Wiedemann syndrome (Q521863) | 35030765 | 116 | Beckwith-Wiedemann syndrome |
| 35034776 | 231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation | |
| 35034859 | 238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation | |
| aniridia (Q548719) | 35032847 | 250923 | Isolated aniridia |
| 35035899 | 77 | Aniridia | |
| dentinogenesis imperfecta (Q548984) | 35030949 | 167762 | Rare disease with dentinogenesis imperfecta |
| 35037782 | 49042 | Dentinogenesis imperfecta | |
| pulmonary valve stenosis (Q579527) | 35034323 | 3189 | Congenital pulmonary valve stenosis |
| 35039378 | 99054 | Valvular pulmonary stenosis | |
| thrombocytopenia (Q585285) | 35030896 | 168629 | Autosomal thrombocytopenia with normal platelets |
| 35037022 | 852 | X-linked thrombocytopenia with normal platelets | |
| myotonia congenita (Q587420) | 35034047 | 206973 | Congenital myotonia |
| 35030584 | 614 | Thomsen and Becker disease | |
| cryptophthalmos (Q590324) | 35038142 | 91396 | Isolated cryptophthalmia |
| 35039436 | 98562 | Cryptophthalmia | |
| juvenile polyposis syndrome (Q609165) | 35031430 | 2929 | Juvenile polyposis syndrome |
| 35034932 | 329971 | Generalized juvenile polyposis/juvenile polyposis coli | |
| cicatricial pemphigoid (Q627291) | 35037836 | 46486 | Mucous membrane pemphigoid |
| 35039978 | 99922 | Ocular pemphigoid | |
| glycogen storage disease I (Q630090) | 35031199 | 364 | Glycogen storage disease due to glucose-6-phosphatase deficiency |
| 35038288 | 79258 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | |
| 35038287 | 79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | |
| long QT syndrome (Q653924) | 35039823 | 101016 | Romano-Ward syndrome |
| 35031227 | 768 | Familial long QT syndrome | |
| biliary atresia (Q659033) | 35036852 | 30391 | Isolated Biliary atresia |
| 35037025 | 498345 | Biliary atresia | |
| Rubinstein-Taybi syndrome (Q666980) | 35035399 | 353277 | Rubinstein-Taybi syndrome due to CREBBP mutations |
| 35030662 | 783 | Rubinstein-Taybi syndrome | |
| mismatch repair cancer syndrome (Q736633) | 35033024 | 252202 | Constitutional mismatch repair deficiency syndrome |
| 35040035 | 99817 | Non-polyposis Turcot syndrome | |
| Treacher Collins syndrome (Q744790) | 35032142 | 155899 | Mandibulofacial dysostosis |
| 35030792 | 861 | Treacher-Collins syndrome | |
| polyarteritis nodosa (Q745162) | 35036378 | 404553 | Vasculitis due to ADA2 deficiency |
| 35036614 | 439762 | Systemic polyarteritis nodosa | |
| 35034402 | 767 | Polyarteritis nodosa | |
| cri-du-chat syndrome (Q752298) | 35033158 | 261893 | Partial deletion of the short arm of chromosome 5 |
| 35030709 | 281 | Monosomy 5p | |
| centronuclear myopathy (Q782958) | 35036655 | 595 | Centronuclear myopathy |
| 35030862 | 596 | X-linked centronuclear myopathy | |
| Lynch syndrome (Q783644) | 35034065 | 144 | Lynch syndrome |
| 35036679 | 443909 | Hereditary nonpolyposis colon cancer | |
| glycogen storage disease IV (Q829150) | 35035905 | 308621 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |
| 35035904 | 308638 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | |
| 35035880 | 308712 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | |
| vitelliform macular dystrophy (Q830265) | 35034974 | 1243 | Best vitelliform macular dystrophy |
| 35039359 | 99000 | Adult-onset foveomacular vitelliform dystrophy | |
| neurofibromatoses (Q847605) | 35030689 | 636 | Neurofibromatosis type 1 |
| 35030700 | 637 | Neurofibromatosis type 2 | |
| 35039059 | 93921 | Neurofibromatosis type 3 | |
| biotin-responsive basal ganglia disease (Q864845) | 35031334 | 199348 | Thiamine-responsive encephalopathy |
| 35037331 | 65284 | Biotin-responsive basal ganglia disease | |
| boutonneuse fever (Q895297) | 35039787 | 101334 | African tick typhus |
| 35038508 | 83313 | Boutonneuse fever | |
| dystonia (Q906492) | 35032117 | 156159 | Isolated dystonia |
| 35037855 | 68363 | Rare dystonia | |
| Cockayne syndrome (Q914389) | 35031114 | 191 | Cockayne syndrome |
| 35037937 | 90321 | Cockayne syndrome type 1 | |
| 35037936 | 90322 | Cockayne syndrome type 2 | |
| 35037938 | 90324 | Cockayne syndrome type 3 | |
| multiple familial trichoepithelioma (Q928767) | 35038267 | 79493 | Brooke-Spiegler syndrome |
| 35036981 | 867 | Familial multiple trichoepithelioma | |
| prolactinoma (Q954831) | 35034545 | 2965 | Prolactinoma |
| 35035174 | 314777 | Familial isolated pituitary adenoma | |
| congenital central hypoventilation syndrome (Q979129) | 35033002 | 661 | Ondine syndrome |
| 35040045 | 99803 | Haddad syndrome | |
| agammaglobulinemia (Q1047559) | 35031442 | 183669 | Agammaglobulinemia |
| 35034656 | 229720 | Syndromic agammaglobulinemia | |
| Stevens–Johnson syndrome (Q1053948) | 35037670 | 36426 | Stevens-Johnson syndrome |
| 35036122 | 537 | Lyell syndrome | |
| chronic inflammatory demyelinating polyradiculoneuropathy (Q1088030) | 35031422 | 2932 | Chronic inflammatory demyelinating polyneuropathy |
| 35039295 | 98916 | Acute inflammatory demyelinating polyradiculoneuropathy | |
| syringomyelia (Q1112977) | 35034638 | 3280 | Syringomyelia |
| 35040024 | 99856 | Primary syringomyelia | |
| Crigler-Najjar syndrome (Q1140000) | 35030742 | 205 | Crigler-Najjar syndrome |
| 35037436 | 79234 | Crigler-Najjar syndrome type 1 | |
| hepatocellular carcinoma (Q1148337) | 35034236 | 210159 | Adult hepatocellular carcinoma |
| 35037964 | 88673 | Hepatocellular carcinoma | |
| Waardenburg's syndrome (Q1151801) | 35031223 | 3440 | Waardenburg syndrome |
| 35030717 | 895 | Waardenburg syndrome type 2 | |
| clubfoot (Q1162164) | 35031368 | 199315 | Familial clubfoot with or without associated lower limb anomalies |
| 35035593 | 293144 | Familial clubfoot due to 5q31 microdeletion | |
| 35035591 | 293150 | Familial clubfoot due to PITX1 point mutation | |
| distichia (Q1229478) | 35039398 | 98600 | Eyebrow/eyelashes distichiasis |
| 35039183 | 99177 | Isolated distichiasis | |
| stiff-person syndrome (Q1235785) | 35031429 | 3198 | Stiff person syndrome and related disorders |
| 35036656 | 443192 | Classic stiff person syndrome | |
| 35036677 | 443804 | Focal stiff limb syndrome | |
| sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (Q1313757) | 35032942 | 254881 | Spinocerebellar ataxia with epilepsy |
| 35037261 | 70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | |
| Stargardt disease (Q1317319) | 35035260 | 364055 | Severe early-childhood-onset retinal dystrophy |
| 35030651 | 827 | Stargardt disease | |
| Emery-Dreifuss muscular dystrophy (Q1335642) | 35030558 | 261 | Emery-Dreifuss muscular dystrophy |
| 35039251 | 98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | |
| 35039270 | 98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | |
| 35039266 | 98863 | X-linked Emery-Dreifuss muscular dystrophy | |
| sitosterolemia (Q1336034) | 35039818 | 101022 | Mediterranean macrothrombocytopenia |
| 35031259 | 2882 | Sitosterolemia | |
| hyperparathyroidism (Q1344835) | 35031632 | 181408 | Rare hyperparathyroidism |
| 35039996 | 99879 | Familial isolated hyperparathyroidism | |
| syndactyly (Q1360044) | 35035515 | 295012 | Syndactyly type 6 |
| 35037892 | 90025 | Syndactyly | |
| 35039002 | 93402 | Syndactyly type 1 | |
| 35039001 | 93403 | Syndactyly type 2 | |
| 35039004 | 93404 | Syndactyly type 3 | |
| 35039005 | 93406 | Syndactyly type 5 | |
| essential thrombocytosis (Q1368780) | 35034786 | 3318 | Essential thrombocythemia |
| 35037595 | 71493 | Familial thrombocytosis | |
| fibrillary glomerulonephritis (Q1410776) | 35038192 | 91137 | Immunotactoid or fibrillary glomerulopathy |
| 35038794 | 97566 | Non-amyloid fibrillary glomerulopathy | |
| fibular hemimelia (Q1411024) | 35035488 | 295081 | Fibular hemimelia, unilateral |
| 35035487 | 295083 | Fibular hemimelia, bilateral | |
| 35038072 | 93323 | Fibular hemimelia | |
| multiple epiphyseal dysplasia (Q1452604) | 35030632 | 166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly |
| 35032389 | 251 | Multiple epiphyseal dysplasia | |
| coloboma (Q1462309) | 35031603 | 194 | Ocular coloboma |
| 35039310 | 98942 | Coloboma of choroid and retina | |
| 35039318 | 98943 | Coloboma of eye lens | |
| 35039319 | 98944 | Coloboma of iris | |
| 35039316 | 98945 | Coloboma of macula | |
| Müllerian agenesis (Q1473749) | 35032545 | 247768 | Müllerian aplasia and hyperandrogenism |
| 35033437 | 3109 | Mayer-Rokitansky-Küster-Hauser syndrome | |
| xanthinuria (Q1476965) | 35031277 | 3467 | Hereditary xanthinuria |
| 35039110 | 93601 | Xanthinuria type I | |
| 35039109 | 93602 | Xanthinuria type II | |
| pseudopseudohypoparathyroidism (Q1477265) | 35031846 | 665 | Albright hereditary osteodystrophy |
| 35038254 | 79445 | Pseudopseudohypoparathyroidism | |
| Hermansky-Pudlak syndrome (Q1506216) | 35034726 | 231531 | Hermansky-Pudlak syndrome type 7 |
| 35034727 | 231537 | Hermansky-Pudlak syndrome type 8 | |
| 35035694 | 280663 | Hermansky-Pudlak syndrome type 9 | |
| 35038253 | 79430 | Hermansky-Pudlak syndrome | |
| nesidioblastosis (Q1535394) | 35033896 | 276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency |
| 35033898 | 276598 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | |
| 35038498 | 79643 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | |
| Alagille syndrome (Q1544408) | 35033261 | 261600 | Alagille syndrome due to 20p12 microdeletion |
| 35033262 | 261619 | Alagille syndrome due to a JAG1 point mutation | |
| 35033274 | 261629 | Alagille syndrome due to a NOTCH2 point mutation | |
| 35030737 | 52 | Alagille syndrome | |
| lissencephaly (Q1544416) | 35039739 | 102009 | Classic lissencephaly |
| 35037784 | 48471 | Lissencephaly | |
| hypoparathyroidism (Q1586088) | 35031630 | 181405 | Rare hypoparathyroidism |
| 35031396 | 189466 | Familial isolated hypoparathyroidism due to impaired PTH secretion | |
| 35032767 | 2238 | Familial isolated hypoparathyroidism | |
| 35032836 | 2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | |
| popliteal pterygium syndrome (Q1587881) | 35031884 | 1300 | Autosomal dominant popliteal pterygium syndrome |
| 35035539 | 294963 | Popliteal pterygium syndrome | |
| hemoglobinopathy (Q1642147) | 35036280 | 466066 | Genetic hemoglobinopathy |
| 35037856 | 68364 | Hemoglobinopathy | |
| hemophagocytic lymphohistiocytosis (Q1642170) | 35032454 | 158032 | Hemophagocytic syndrome |
| 35030754 | 540 | Familial hemophagocytic lymphohistiocytosis | |
| Kindler syndrome (Q1741965) | 35037092 | 2908 | Kindler syndrome |
| 35035982 | 306539 | Hereditary acrokeratotic poikiloderma of Kindler-Weary | |
| osteopetrosis (Q1755568) | 35034667 | 2781 | Osteopetrosis |
| 35033059 | 667 | Autosomal recessive malignant osteopetrosis | |
| erythropoietic protoporphyria (Q1759600) | 35036653 | 443197 | X-linked erythropoietic protoporphyria |
| 35038304 | 79278 | Autosomal erythropoietic protoporphyria | |
| Klippel–Trénaunay–Weber syndrome (Q1774750) | 35031051 | 2346 | Angioosteohypertrophic syndrome |
| 35037932 | 90308 | Klippel-Trénaunay syndrome | |
| X-linked hypophosphatemic rickets (Q1779987) | 35030681 | 437 | Hypophosphatemic rickets |
| 35037907 | 89936 | X-linked hypophosphatemia | |
| hyperekplexia (Q1781802) | 35035826 | 306773 | Hyperekplexia |
| 35033826 | 3197 | Hereditary hyperekplexia | |
| acrocephalosyndactylia (Q1786496) | 35031948 | 1219 | Aurocephalosyndactyly |
| 35031712 | 946 | Acrocephalosyndactyly | |
| thanatophoric dysplasia (Q1787020) | 35032373 | 1860 | Thanatophoric dysplasia type 1 |
| 35030996 | 2655 | Thanatophoric dysplasia | |
| 35038045 | 93274 | Thanatophoric dysplasia type 2 | |
| 35038046 | 93275 | Thanatophoric dysplasia, Glasgow variant | |
| periodic paralysis (Q1788314) | 35034044 | 206976 | Periodic paralysis |
| 35036419 | 371433 | Genetic periodic paralysis | |
| Leigh disease (Q1815019) | 35031053 | 506 | Leigh syndrome |
| 35037270 | 70474 | Leigh syndrome with cardiomyopathy | |
| inclusion body myositis (Q1848471) | 35035290 | 363677 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
| 35031182 | 611 | Inclusion body myositis | |
| 35037542 | 79091 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | |
| myotonic dystrophy (Q1860507) | 35034064 | 206647 | Myotonic dystrophy |
| 35030578 | 273 | Steinert myotonic dystrophy | |
| moya moya disease (Q1951267) | 35033195 | 2573 | Moyamoya disease |
| 35035703 | 280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | |
| 35036340 | 401945 | Moyamoya disease with early-onset achalasia | |
| myoglobinuria (Q1956682) | 35040018 | 99845 | Genetic recurrent myoglobinuria |
| 35040019 | 99846 | Autosomal dominant myoglobinuria | |
| Duane-radial ray syndrome (Q2017218) | 35038090 | 93293 | Okihiro syndrome |
| 35031814 | 959 | Acro-renal-ocular syndrome | |
| pleomorphic adenoma (Q2064603) | 35033669 | 276148 | Benign epithelial tumor of salivary glands |
| 35036137 | 454821 | Pleomorphic salivary gland adenoma | |
| restrictive cardiomyopathy (Q2151267) | 35034498 | 217632 | Restrictive cardiomyopathy |
| 35037589 | 75249 | Familial isolated restrictive cardiomyopathy | |
| Sanfilippo syndrome (Q2200359) | 35031186 | 581 | Mucopolysaccharidosis type 3 |
| 35038311 | 79270 | Sanfilippo syndrome type B | |
| papillary thyroid cancer (Q2292945) | 35031537 | 146 | Differentiated thyroid carcinoma |
| 35035113 | 319487 | Familial papillary or follicular thyroid carcinoma | |
| familial lipoprotein lipase deficiency (Q2349695) | 35035889 | 309015 | Familial lipoprotein lipase deficiency |
| 35034045 | 411 | Hyperlipoproteinemia type 1 | |
| tetra-amelia (Q2406697) | 35035543 | 294971 | Tetra-amelia |
| 35033922 | 3301 | Tetraamelia-multiple malformations syndrome | |
| arrhythmogenic right ventricular cardiomyopathy (Q2555727) | 35034502 | 217656 | Familial isolated arrhythmogenic right ventricular dysplasia |
| 35037056 | 247 | Arrhythmogenic right ventricular cardiomyopathy | |
| scimitar syndrome (Q2557206) | 35034318 | 185 | Scimitar syndrome |
| 35039143 | 99125 | Congenital total pulmonary venous return anomaly | |
| mevalonic aciduria (Q3043158) | 35030880 | 29 | Mevalonic aciduria |
| 35035887 | 309025 | Mevalonate kinase deficiency | |
| glycine encephalopathy (Q3053945) | 35035566 | 289857 | Neonatal glycine encephalopathy |
| 35034278 | 407 | Glycine encephalopathy | |
| periodic fever syndrome (Q3278145) | 35039718 | 101995 | Periodic fever syndrome |
| 35039076 | 93665 | Autoinflammatory syndrome | |
| omodysplasia (Q3352097) | 35032973 | 2733 | Omodysplasia |
| 35038074 | 93328 | Autosomal dominant omodysplasia | |
| 35038073 | 93329 | Autosomal recessive omodysplasia | |
| leukoencephalopathy with vanishing white matter (Q3508563) | 35034695 | 135 | CACH syndrome |
| 35040026 | 99854 | Cree leukoencephalopathy | |
| brittle cornea syndrome (Q3508598) | 35034812 | 1900 | Ehlers-Danlos syndrome, kyphoscoliotic type |
| 35037925 | 90354 | Brittle cornea syndrome | |
| Ehlers-Danlos syndrome, arthrochalasis type (Q3508601) | 35034824 | 1899 | Ehlers-Danlos syndrome, arthrochalasis type |
| 35039998 | 99875 | Ehlers-Danlos syndrome type 7A | |
| 35039999 | 99876 | Ehlers-Danlos syndrome type 7B | |
| type I Ehlers-Danlos syndrome (Q3508606) | 35031083 | 287 | Ehlers-Danlos syndrome, classic type |
| 35037935 | 90309 | Ehlers-Danlos syndrome type 1 | |
| Baller-Gerold syndrome (Q3508616) | 35034784 | 1223 | Balantidiasis |
| 35031953 | 1225 | Baller-Gerold syndrome | |
| Opitz-GBBB syndrome (Q3508750) | 35034419 | 2745 | Opitz G/BBB syndrome |
| 35036003 | 306588 | Autosomal dominant Opitz G/BBB syndrome | |
| otopalatodigital syndrome type 1 (Q3508782) | 35034030 | 669 | Otopalatodigital syndrome |
| 35038136 | 90650 | Otopalatodigital syndrome type 1 | |
| intrahepatic cholestasis (Q3682587) | 35031670 | 172 | Progressive familial intrahepatic cholestasis |
| 35037337 | 65682 | Benign recurrent intrahepatic cholestasis | |
| 35037284 | 69665 | Intrahepatic cholestasis of pregnancy | |
| Salla disease (Q3843807) | 35035917 | 309331 | Intermediate severe Salla disease |
| 35035918 | 309334 | Salla disease | |
| Weill-Marchesani syndrome (Q3961695) | 35032477 | 2084 | Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome |
| 35033794 | 3449 | Weill-Marchesani syndrome | |
| PEHO syndrome (Q4357091) | 35033559 | 2836 | PEHO syndrome |
| 35040047 | 99807 | PEHO-like syndrome | |
| acrodysostosis (Q4357287) | 35035698 | 280651 | Acrodysostosis with multiple hormone resistance |
| 35031709 | 950 | Acrodysostosis | |
| neuronal ceroid lipofuscinosis (Q4358039) | 35031198 | 216 | Neuronal ceroid lipofuscinosis |
| 35038279 | 79262 | Adult neuronal ceroid lipofuscinosis | |
| Dent disease (Q4420121) | 35034634 | 1652 | Dent disease |
| 35039081 | 93623 | Dent disease type 2 | |
| multicentric osteolysis-nodulosis-arthropathy (Q4420136) | 35033747 | 3460 | Torg-Winchester syndrome |
| 35036421 | 371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | |
| 35038368 | 85196 | Nodulosis-arthropathy-osteolysis syndrome | |
| Koolen de Vries syndrome (Q4553565) | 35035278 | 363958 | 17q21.31 microdeletion syndrome |
| 35038906 | 96169 | Koolen-De Vries syndrome | |
| chromosome 18p deletion syndrome (Q4557543) | 35030842 | 1598 | Monosomy 18p |
| 35033167 | 261974 | Partial deletion of the short arm of chromosome 18 | |
| Kleefstra syndrome (Q4646476) | 35033251 | 261494 | Kleefstra syndrome |
| 35038915 | 96147 | Kleefstra syndrome due to 9q34 microdeletion | |
| Allan-Herndon-Dudley syndrome (Q4731121) | 35033888 | 280270 | Pelizaeus-Merzbacher-like disease |
| 35031847 | 59 | Allan-Herndon-Dudley syndrome | |
| spondylocostal dysostosis (Q4821698) | 35033892 | 1797 | Autosomal dominant spondylocostal dysostosis |
| 35031652 | 2311 | Autosomal recessive spondylocostal dysostosis | |
| Bazex–Dupré–Christol syndrome (Q4875174) | 35031562 | 113 | Bazex-Dupré-Christol syndrome |
| 35038244 | 79459 | Follicular atrophoderma-basal cell carcinoma | |
| CD30+ cutaneous T-cell lymphoma (Q5009807) | 35035957 | 300865 | Primary cutaneous anaplastic large cell lymphoma |
| 35034603 | 541 | Primary cutaneous CD30+ T-cell lymphoproliferative disease | |
| alopecia areata (Q5075435) | 35037070 | 700 | Alopecia totalis |
| 35031841 | 701 | Alopecia universalis | |
| coenzyme Q10 deficiency disease (Q5140809) | 35032968 | 255249 | Leigh syndrome with nephrotic syndrome |
| 35037658 | 35656 | Coenzyme Q10 deficiency | |
| congenital dyserythropoietic anemia (Q5160422) | 35034284 | 85 | Congenital dyserythropoietic anemia |
| 35039264 | 98869 | Congenital dyserythropoietic anemia type I | |
| congenital limb deformity (Q5160441) | 35035441 | 294944 | Congenital deformities of limbs |
| 35037860 | 68378 | Congenital limb malformation | |
| D-bifunctional protein deficiency (Q5203306) | 35031030 | 2981 | Pseudo-Zellweger syndrome |
| 35034308 | 300 | Bifunctional enzyme deficiency | |
| dentin dysplasia (Q5259533) | 35032210 | 1653 | Dentin dysplasia |
| 35035182 | 314721 | Atypical dentin dysplasia due to SMOC2 deficiency | |
| distal muscular dystrophy (Q5282843) | 35036529 | 399086 | Finnish upper limb-onset distal myopathy |
| 35036532 | 399096 | Distal anoctaminopathy | |
| 35037408 | 59135 | Laing early-onset distal myopathy | |
| 35034249 | 599 | Distal myopathy | |
| 35037376 | 63273 | Distal myopathy with posterior leg and anterior hand involvement | |
| Dysfibrinogenemia (Q5319404) | 35032607 | 248408 | Familial hypodysfibrinogenemia |
| 35034496 | 335 | Congenital fibrinogen deficiency | |
| 35039272 | 98881 | Familial dysfibrinogenemia | |
| familial partial lipodystrophy (Q5432945) | 35037533 | 79083 | PPARG-related familial partial lipodystrophy |
| 35039599 | 98306 | Familial partial lipodystrophy | |
| familial progressive hyperpigmentation (Q5432946) | 35035689 | 280628 | Familial progressive hyper- and hypopigmentation |
| 35037475 | 79146 | Familial progressive hyperpigmentation | |
| Feingold syndrome (Q5441566) | 35032139 | 1305 | Feingold syndrome |
| 35036434 | 391641 | Feingold syndrome type 1 | |
| Generalized pustular psoriasis (Q5532501) | 35032666 | 247353 | Generalized pustular psoriasis |
| 35036379 | 404546 | DITRA | |
| glycerol kinase deficiency (Q5572555) | 35035877 | 308993 | Glycerol kinase deficiency |
| 35030956 | 408 | Isolated glycerol kinase deficiency | |
| familial juvenile gout (Q5883713) | 35034228 | 209886 | Familial juvenile hyperuricemic nephropathy type 1 |
| 35034423 | 217330 | REN-related autosomal dominant tubulointerstitial kidney disease | |
| CD40 deficiency (Q5957519) | 35039805 | 101090 | Hyper-IgM syndrome type 3 |
| 35031444 | 183663 | Hyper-IgM syndrome with susceptibility to opportunistic infections | |
| hyper-IgM syndrome type 5 (Q5957527) | 35039807 | 101092 | Hyper-IgM syndrome type 5 |
| 35031443 | 183666 | Hyper-IgM syndrome without susceptibility to opportunistic infections | |
| hypoalphalipoproteinemia (Q5959167) | 35037227 | 31153 | Hypoalphalipoproteinemia |
| 35033913 | 425 | Apolipoprotein A-I deficiency | |
| hypoglossia (Q5959625) | 35032056 | 141152 | Isolated congenital hypoglossia/aglossia |
| 35032152 | 156212 | Hypoglossia/aglossia | |
| Ichthyosis follicularis with alopecia and photophobia syndrome (Q5986440) | 35032820 | 2273 | Ichthyosis follicularis-alopecia-photophobia syndrome |
| 35038387 | 85284 | BRESEK syndrome | |
| Infantile neuroaxonal dystrophy (Q6029060) | 35032699 | 2174 | Hunter-Carpenter-McDonald syndrome |
| 35037715 | 35069 | Infantile neuroaxonal dystrophy | |
| progeroid syndrome (Q6139748) | 35031798 | 139033 | Progeroid syndrome |
| 35035319 | 363245 | Genetic progeroid syndrome | |
| Leydig cell hypoplasia (Q6538005) | 35031252 | 755 | Leydig cell hypoplasia |
| 35038759 | 96265 | Leydig cell hypoplasia due to complete LH resistance | |
| 35038758 | 96266 | Leydig cell hypoplasia due to partial LH resistance | |
| methylmalonyl-CoA mutase deficiency (Q6824028) | 35031702 | 27 | Vitamin B12-unresponsive methylmalonic acidemia |
| 35035557 | 289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | |
| 35038334 | 79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | |
| neutral lipid storage disease (Q7003001) | 35032822 | 165 | Neutral lipid storage disease |
| 35039302 | 98907 | Dorfman-Chanarin disease | |
| pleuropulmonary blastoma (Q7204815) | 35035726 | 284343 | Pleuropulmonary blastoma familial tumor susceptibility syndrome |
| 35037367 | 64742 | Pleuropulmonary blastoma | |
| potassium-aggravated myotonia (Q7234683) | 35031077 | 612 | Potassium-aggravated myotonia |
| 35039214 | 99734 | Myotonia fluctuans | |
| 35039217 | 99735 | Myotonia permanens | |
| 35039218 | 99736 | Acetazolamide-responsive myotonia | |
| primary cutaneous amyloidosis (Q7243115) | 35031938 | 137807 | Primary cutaneous amyloidosis |
| 35035401 | 353220 | Familial primary localized cutaneous amyloidosis | |
| primary hypertrophic osteoarthropathy (Q7243138) | 35032320 | 1525 | Cranio-osteoarthropathy |
| 35032623 | 248095 | Primary hypertrophic osteoarthropathy | |
| progressive myoclonus epilepsy (Q7248853) | 35030793 | 308 | Unverricht-Lundborg disease |
| 35038663 | 98261 | Progressive myoclonic epilepsy | |
| pseudo-Hurler polydystrophy (Q7254411) | 35036766 | 423461 | Mucolipidosis type III alpha/beta |
| 35036767 | 423470 | Mucolipidosis type III gamma | |
| 35030522 | 577 | Mucolipidosis type III | |
| pulmonary hypoplasia (Q7259532) | 35032842 | 2257 | Primary pulmonary hypoplasia |
| 35031270 | 984 | Pulmonary agenesis | |
| pyruvate carboxylase deficiency disease (Q7263794) | 35036654 | 3008 | Pyruvate carboxylase deficiency |
| 35035412 | 353308 | Pyruvate carboxylase deficiency, infantile form | |
| 35035413 | 353314 | Pyruvate carboxylase deficiency, severe neonatal type | |
| 35035410 | 353320 | Pyruvate carboxylase deficiency, benign type | |
| pyruvate decarboxylase deficiency (Q7263801) | 35030953 | 765 | Pyruvate dehydrogenase deficiency |
| 35038297 | 79243 | Pyruvate dehydrogenase E1-alpha deficiency | |
| recessive dystrophic epidermolysis bullosa (Q7302398) | 35038236 | 79408 | Severe generalized recessive dystrophic epidermolysis bullosa |
| 35038235 | 79409 | Recessive dystrophic epidermolysis bullosa inversa | |
| sialuria (Q7506696) | 35031258 | 3166 | Sialuria |
| 35031119 | 834 | Free sialic acid storage disease | |
| tetrahydrobiopterin deficiency (Q7706537) | 35034551 | 1578 | Dehydratase deficiency |
| 35034850 | 238583 | Hyperphenylalaninemia | |
| wrinkly skin syndrome (Q8038353) | 35033567 | 2834 | Wrinkly skin syndrome |
| 35035369 | 357058 | Autosomal recessive cutis laxa type 2A | |
| Otodental syndrome (Q9390614) | 35033042 | 2791 | Otodental syndrome |
| 35040046 | 99806 | Oculootodental syndrome | |
| congenital bile acid synthesis defect (Q9398222) | 35037100 | 485631 | Congenital bile acid synthesis defect |
| 35037500 | 79095 | Congenital bile acid synthesis defect type 4 | |
| 35038300 | 79301 | Congenital bile acid synthesis defect type 1 | |
| 35038340 | 79302 | Congenital bile acid synthesis defect type 3 | |
| 35038341 | 79303 | Congenital bile acid synthesis defect type 2 | |
| neurohypophyseal diabetes insipidus (Q12412172) | 35031190 | 178029 | Central diabetes insipidus |
| 35037232 | 30925 | Hereditary central diabetes insipidus | |
| autosomal recessive limb-girdle muscular dystrophy type 2S (Q15812429) | 35035248 | 369840 | Autosomal recessive limb-girdle muscular dystrophy type 2S |
| 35035249 | 369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | |
| Hereditary intestinal polyposis (Q16784596) | 35039674 | 104010 | Intestinal polyposis syndrome |
| 35035311 | 363314 | Genetic intestinal polyposis | |
| multiple pterygium syndrome (Q16889762) | 35035452 | 294060 | Multiple pterygium syndrome |
| 35033365 | 2990 | Autosomal recessive multiple pterygium syndrome | |
| 22q11.2 distal deletion syndrome (Q17080095) | 35033241 | 261330 | Distal 22q11.2 microdeletion syndrome |
| 35030629 | 567 | 22q11.2 deletion syndrome | |
| Fish-eye disease (Q17105439) | 35031504 | 650 | LCAT deficiency |
| 35038303 | 79292 | Fish-eye disease | |
| peeling skin syndrome (Q17120550) | 35033317 | 263543 | Generalized peeling skin syndrome |
| 35036980 | 817 | Peeling skin syndrome | |
| hypoplastic tibiae-postaxial polydactyly syndrome (Q17122962) | 35033700 | 3332 | Hypoplastic tibiae-postaxial polydactyly syndrome |
| 35031799 | 988 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | |
| iridogoniodysgenesis syndrome (Q17125601) | 35038168 | 91483 | Rieger anomaly |
| 35039484 | 98634 | Iridogoniodysgenesis | |
| permanent neonatal diabetes mellitus (Q17143640) | 35037508 | 79134 | DEND syndrome |
| 35040004 | 99885 | Permanent neonatal diabetes mellitus | |
| autosomal dominant retinal vasculopathy with cerebral leukodystrophy (Q18209717) | 35032556 | 247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| 35033781 | 3421 | Cerebroretinal vasculopathy | |
| 35037370 | 63261 | HERNS syndrome | |
| 35037594 | 71291 | Hereditary vascular retinopathy | |
| nonpapillary renal cell carcinoma (Q18553255) | 35035097 | 319276 | Clear cell renal carcinoma |
| 35036779 | 422526 | Hereditary clear cell renal cell carcinoma | |
| adult spinal muscular atrophy (Q18553288) | 35031109 | 70 | Proximal spinal muscular atrophy |
| 35038506 | 83420 | Proximal spinal muscular atrophy type 4 | |
| familial medullary thyroid carcinoma (Q18553300) | 35031534 | 653 | Multiple endocrine neoplasia type 2 |
| 35039182 | 99361 | Familial medullary thyroid carcinoma | |
| severe congenital neutropenia (Q18553325) | 35037826 | 42738 | Severe congenital neutropenia |
| 35031318 | 486 | Autosomal dominant severe congenital neutropenia | |
| 35038433 | 86788 | X-linked severe congenital neutropenia | |
| Athabaskan brainstem dysgenesis syndrome (Q18553396) | 35037281 | 69737 | Bosley-Salih-Alorainy syndrome |
| 35037282 | 69739 | Athabaskan brainstem dysgenesis syndrome | |
| brachyolmia (Q18553406) | 35031877 | 1293 | Brachyolmia |
| 35036172 | 448242 | Autosomal recessive brachyolmia | |
| methylmalonic aciduria and homocystinuria type cblC (Q18553420) | 35031285 | 26 | Methylmalonic acidemia with homocystinuria |
| 35038308 | 79282 | Methylmalonic acidemia with homocystinuria, type cblC | |
| spondyloepiphyseal dysplasia with congenital joint dislocations (Q18553493) | 35032186 | 1792 | Humerospinal dysostosis |
| 35033335 | 263463 | CHST3-related skeletal dysplasia | |
| pyridoxine-refractory autosomal recessive sideroblastic anemia (Q18553629) | 35032939 | 255132 | Adult-onset autosomal recessive sideroblastic anemia |
| 35032981 | 260305 | Autosomal recessive sideroblastic anemia | |
| spondyloepimetaphyseal dysplasia, Missouri type (Q18553747) | 35031761 | 1040 | Metaphyseal anadysplasia |
| 35038085 | 93356 | Spondyloepimetaphyseal dysplasia, Missouri type | |
| multiple intestinal atresia (Q18554801) | 35031043 | 2300 | Multiple intestinal atresia |
| 35036589 | 436252 | Combined immunodeficiency-enteropathy spectrum | |
| acquired polycythemia (Q18555212) | 35034853 | 238547 | Acquired secondary polycythemia |
| 35039636 | 98428 | Secondary polycythemia | |
| microhydranencephaly (Q21014372) | 35032229 | 1665 | Sporadic fetal brain disruption sequence |
| 35036674 | 443162 | NDE1-related microhydranencephaly | |
| spinocerebellar ataxia type 19/22 (Q21097767) | 35039784 | 101107 | Spinocerebellar ataxia type 22 |
| 35039569 | 98772 | Spinocerebellar ataxia type 19/22 | |
| spinocerebellar ataxia type 15/16 (Q21097863) | 35039575 | 98769 | Spinocerebellar ataxia type 15/16 |
| 35039574 | 98770 | Spinocerebellar ataxia type 16 | |
| chromosome 19p13.13 deletion syndrome (Q21124550) | 35035362 | 357001 | 19p13.13 microdeletion syndrome |
| 35036177 | 447980 | 19p13.3 microduplication syndrome | |
| autosomal recessive spinocerebellar ataxia 18 (Q21124560) | 35035308 | 363429 | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome |
| 35035309 | 363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | |
| myofibrillar myopathy 2 (Q21505521) | 35036527 | 399058 | Alpha-B crystallin-related late-onset distal myopathy |
| 35039303 | 98910 | Alpha-crystallinopathy | |
| episodic ataxia type 1 (Q21694563) | 35037623 | 37612 | Episodic ataxia type 1 |
| 35031811 | 972 | Hereditary continuous muscle fiber activity | |
| Absence of fingerprints-congenital milia syndrome (Q22965397) | 35031861 | 1235 | Ectodermal dysplasia-absent dermatoglyphs syndrome |
| 35032217 | 1658 | Absence of fingerprints-congenital milia syndrome | |
| lethal congenital contracture syndrome 2 (Q26492778) | 35031935 | 137776 | Lethal congenital contracture syndrome type 2 |
| 35031941 | 137783 | Lethal congenital contracture syndrome type 3 | |
| mitochondrial DNA depletion syndrome 5 (Q26492817) | 35030985 | 1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
| 35032920 | 254803 | Mitochondrial DNA depletion syndrome, encephalomyopathic form | |
| multiple mitochondrial dysfunctions syndrome 1 (Q26492826) | 35035573 | 289573 | Multiple mitochondrial dysfunctions syndrome |
| 35036312 | 401869 | Multiple mitochondrial dysfunctions syndrome type 1 | |
| Charcot-Marie-Tooth disease axonal type 2T (Q27164466) | 35036680 | 443950 | DNAJB2-related Charcot-Marie-Tooth disease type 2 |
| 35036901 | 495274 | Charcot-Marie-Tooth disease type 2T | |
| cataract 32 multiple types (Q27674866) | 35038158 | 91492 | Early-onset non-syndromic cataract |
| 35039347 | 98988 | Early-onset anterior polar cataract | |
| 35039356 | 98993 | Early-onset posterior polar cataract | |
| osteogenesis imperfecta type 9 (Q27677747) | 35034371 | 216804 | Osteogenesis imperfecta type 2 |
| 35034373 | 216812 | Osteogenesis imperfecta type 3 | |
| 35034375 | 216820 | Osteogenesis imperfecta type 4 | |
| autosomal recessive congenital ichthyosis 1 (Q28024490) | 35039872 | 100976 | Bathing suit ichthyosis |
| 35035683 | 281122 | Self-healing collodion baby | |
| 35030771 | 313 | Lamellar ichthyosis | |
| methylmalonic acidemia cblA type (Q28065545) | 35034046 | 28 | Vitamin B12-responsive methylmalonic acidemia |
| 35038335 | 79310 | Vitamin B12-responsive methylmalonic acidemia type cblA | |
| autosomal recessive Robinow syndrome (Q28065569) | 35032302 | 1507 | Autosomal recessive Robinow syndrome |
| 35038717 | 97360 | Robinow syndrome | |
| hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism (Q28065599) | 35031892 | 137639 | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome |
| 35036711 | 447893 | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | |
| 35036710 | 447896 | Tremor-ataxia-central hypomyelination syndrome | |
| 35037520 | 77295 | Odontoleukodystrophy | |
| syndromic X-linked intellectual disability Hedera type (Q28065610) | 35033763 | 2076 | X-linked intellectual disability-epilepsy syndrome |
| 35039061 | 93952 | X-linked intellectual disability, Hedera type | |
| rigid spine syndrome (Q29982088) | 35035018 | 324604 | Classic multiminicore myopathy |
| 35038563 | 84132 | Desmin-related myopathy with Mallory body-like inclusions | |
| 35038682 | 97244 | Rigid spine syndrome | |
| complex cortical dysplasia with other brain malformations 7 (Q30988929) | 35034138 | 208444 | Bilateral frontal polymicrogyria |
| 35033776 | 268940 | Bilateral polymicrogyria | |
| 35035944 | 300573 | Polymicrogyria due to TUBB2B mutation | |
| cortical dysplasia-focal epilepsy syndrome (Q30989483) | 35030695 | 163681 | Cortical dysplasia-focal epilepsy syndrome |
| 35034581 | 221150 | Pitt-Hopkins-like syndrome | |
| hypogonadotropic hypogonadism (Q30990102) | 35036971 | 432 | Normosmic congenital hypogonadotropic hypogonadism |
| 35034032 | 478 | Kallmann syndrome | |
| autosomal recessive pseudohypoaldosteronism type 1 (Q32136454) | 35031294 | 171876 | Generalized pseudohypoaldosteronism type 1 |
| 35036859 | 756 | Pseudohypoaldosteronism type 1 | |
| muscular dystrophy-dystroglycanopathy type B6 (Q32139666) | 35035227 | 370968 | Congenital muscular dystrophy with intellectual disability |
| 35039289 | 98894 | Congenital muscular dystrophy type 1D | |
| neuronal ceroid lipofuscinosis 1 (Q32140531) | 35030938 | 168491 | Late infantile neuronal ceroid lipofuscinosis |
| 35034679 | 228329 | CLN1 disease | |
| 35038278 | 79263 | Infantile neuronal ceroid lipofuscinosis | |
| neuronal ceroid lipofuscinosis 10 (Q32140575) | 35030937 | 168486 | Congenital neuronal ceroid lipofuscinosis |
| 35034678 | 228337 | CLN10 disease | |
| hereditary spastic paraplegia 9A (Q32143434) | 35039836 | 100990 | Autosomal dominant spastic paraplegia type 9 |
| 35036721 | 447753 | Autosomal dominant complex spastic paraplegia type 9A | |
| Joubert syndrome 14 (Q32145623) | 35034537 | 220493 | Joubert syndrome with ocular defect |
| 35034536 | 220497 | Joubert syndrome with renal defect | |
| hemochromatosis type 5 (Q32146288) | 35032548 | 247790 | FTH1-related iron overload |
| 35036712 | 447792 | Hemochromatosis type 5 | |
| platelet-type bleeding disorder 9 (Q32146449) | 35037576 | 73271 | Bleeding diathesis due to a collagen receptor defect |
| 35039275 | 98886 | Bleeding diathesis due to integrin alpha2-beta1 deficiency | |
| Ambras type hypertrichosis universalis congenita (Q32146666) | 35031833 | 1023 | Congenital generalized hypertrichosis, Ambras type |
| 35032748 | 2222 | Hypertrichosis lanuginosa congenita | |
| Bifid nose (Q42848169) | 35031983 | 141242 | Paramedian nasal cleft |
| 35032934 | 2695 | Bifid nose | |
| Prader-Willi syndrome due to point mutation (Q48789662) | 35036547 | 398069 | Prader-Willi syndrome due to point mutation |
| 35030641 | 739 | Prader-Willi syndrome | |
| autosomal dominant non-syndromic intellectual disability 31 (Q50349635) | 35036604 | 438213 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| 35036603 | 438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | |
| punctate palmoplantar keratoderma type II (Q53660457) | 35036986 | 736 | Palmoplantar porokeratosis of Mantoux |
| 35038485 | 79502 | Punctate palmoplantar keratoderma type 2 | |
| primary hyperoxaluria type I (Q54320724) | 35034246 | 416 | Primary hyperoxaluria |
| 35039091 | 93598 | Primary hyperoxaluria type 1 | |
| inherited Creutzfeldt–Jakob disease (Q55345655) | 35031176 | 204 | Sporadic Creutzfeldt-Jakob disease |
| 35035738 | 282166 | Inherited Creutzfeldt-Jakob disease | |
| optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (Q55345656) | 35031943 | 1215 | Autosomal dominant optic atrophy plus syndrome |
| 35033843 | 3212 | Autosomal dominant optic atrophy and congenital deafness | |
| autosomal dominant vitreoretinochoroidopathy (Q55345683) | 35033353 | 263347 | MRCS syndrome |
| 35033440 | 3086 | Autosomal dominant vitreoretinochoroidopathy | |
| progressive supranuclear palsy-parkinsonism syndrome (Q55345717) | 35034881 | 240085 | Progressive supranuclear palsy-parkinsonism syndrome |
| 35039209 | 99750 | Atypical progressive supranuclear palsy syndrome | |
| familial infantile bilateral striatal necrosis (Q55345729) | 35034735 | 1576 | Infantile bilateral striatal necrosis |
| 35034568 | 225154 | Familial infantile bilateral striatal necrosis | |
| congenital absence/hypoplasia of fingers excluding thumb, unilateral (Q55780295) | 35035526 | 294990 | Congenital absence/hypoplasia of fingers excluding thumb |
| 35031812 | 973 | Congenital absence/hypoplasia of fingers excluding thumb, unilateral | |
| autosomal dominant deafness-onychodystrophy syndrome (Q55780470) | 35033943 | 3231 | Deafness-onychodystrophy syndrome |
| 35038491 | 79499 | Autosomal dominant deafness-onychodystrophy syndrome | |
| genochondromatosis (Q55780786) | 35038367 | 85197 | Genochondromatosis type 1 |
| 35038999 | 93398 | Genochondromatosis type 2 | |
| hereditary cryohydrocytosis with normal stomatin (Q55781516) | 35036550 | 398088 | Hereditary cryohydrocytosis with normal stomatin |
| 35037884 | 90044 | Familial pseudohyperkalemia | |
| corticosterone methyloxidase type 1 deficiency (Q55781638) | 35031507 | 427 | Familial hypoaldosteronism |
| 35040053 | 99763 | Familial hyperreninemic hypoaldosteronism type 1 | |
| immunodeficiency 27A (Q55781684) | 35035079 | 319569 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| 35039995 | 99898 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | |
| hypoplasminogenemia (Q55781763) | 35037017 | 722 | Hypoplasminogenemia |
| 35038774 | 97231 | Ligneous conjunctivitis | |
| methylcobalamin deficiency type cblE (Q55781940) | 35032746 | 2169 | Methylcobalamin deficiency type cblE |
| 35034525 | 622 | Homocystinuria without methylmalonic aciduria | |
| subaortic stenosis, membranous (Q55782331) | 35034467 | 3092 | Fixed subaortic stenosis |
| 35039377 | 99051 | Discrete fixed membranous subaortic stenosis | |
| isolated sulfite oxidase deficiency (Q55782334) | 35030951 | 833 | Encephalopathy due to sulfite oxidase deficiency |
| 35039215 | 99731 | Isolated sulfite oxidase deficiency | |
| intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (Q55782410) | 35031032 | 2301 | Congenital short bowel syndrome |
| 35033577 | 2978 | Chronic intestinal pseudoobstruction | |
| X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (Q55782460) | 35035088 | 319605 | X-linked mendelian susceptibility to mycobacterial diseases |
| 35035087 | 319612 | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | |
| X-linked acrogigantism due to Xq26 microduplication (Q55782503) | 35036093 | 300373 | Familial infantile gigantism |
| 35036163 | 448372 | X-linked acrogigantism due to Xq26 microduplication | |
| BOSMA Arhinia Microphthalmia Syndrome (Q55783319) | 35030933 | 1135 | Arrhinia-choanal atresia-microphthalmia syndrome |
| 35032846 | 2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | |
| paternal uniparental disomy of chromosome 14 (Q55783547) | 35033031 | 254519 | Kagami-Ogata syndrome |
| 35033373 | 263049 | Uniparental disomy of chromosome 14 | |
| 35038763 | 96334 | Paternal uniparental disomy of chromosome 14 | |
| 14q22q23 microdeletion syndrome (Q55783684) | 35032482 | 2055 | Growth deficiency-brachydactyly-dysmorphism syndrome |
| 35033279 | 264200 | 14q22q23 microdeletion syndrome | |
| thrombophilia due to protein S deficiency, autosomal dominant (Q55783893) | 35036877 | 26349 | Protein S acquired deficiency |
| 35033978 | 743 | Severe hereditary thrombophilia due to congenital protein S deficiency | |
| combined immunodeficiency due to ORAI1 deficiency (Q55783931) | 35030815 | 169090 | Combined immunodeficiency due to CRAC channel dysfunction |
| 35035134 | 317428 | Combined immunodeficiency due to ORAI1 deficiency | |
| glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (Q55783946) | 35034291 | 2364 | Glycogen storage disease due to lactate dehydrogenase deficiency |
| 35035629 | 284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | |
| pancreatic triacylglycerol lipase deficiency (Q55784308) | 35035885 | 309031 | Pancreatic triacylglycerol lipase deficiency |
| 35035886 | 309108 | Pancreatic colipase deficiency | |
| 35035883 | 309111 | Combined pancreatic lipase-colipase deficiency | |
| C3 glomerulonephritis (Q55784385) | 35034936 | 329918 | Non-immunoglobulin-mediated membranoproliferative glomerulonephritis |
| 35034931 | 329931 | C3 glomerulonephritis | |
| 35037416 | 54370 | Primary membranoproliferative glomerulonephritis | |
| distal tetrasomy 15q (Q55784391) | 35035798 | 314585 | 15q overgrowth syndrome |
| 35035797 | 314588 | Distal tetrasomy 15q | |
| immunodeficiency 28 (Q55784401) | 35035067 | 319547 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
| 35035076 | 319574 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | |
| familial episodic pain syndrome with predominantly upper body involvement (Q55784462) | 35036445 | 391384 | Familial episodic pain syndrome |
| 35036446 | 391389 | Familial episodic pain syndrome with predominantly upper body involvement | |
| severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (Q55784733) | 35035202 | 370088 | Acute infantile liver failure-multisystemic involvement syndrome |
| 35036636 | 440427 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | |
| polyglucosan body myopathy 1 with or without immunodeficiency (Q55784804) | 35034964 | 329173 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
| 35036471 | 397937 | Polyglucosan body myopathy type 1 | |
| muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (Q55784928) | 35035213 | 370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy |
| 35036893 | 899 | Walker-Warburg syndrome | |
| glioma susceptibility 9 (Q55784935) | 35032744 | 251627 | Oligodendroglioma |
| 35032697 | 251630 | Anaplastic oligodendroglioma | |
| rare head and neck malformation (Q55785495) | 35032011 | 155832 | Rare head and neck malformation |
| 35031493 | 183583 | Genetic head and neck malformation | |
| partial deletion of chromosome X (Q55786717) | 35033140 | 261811 | Partial deletion of chromosome 10 |
| 35033294 | 263726 | Partial deletion of chromosome X | |
| partial duplication of chromosome X (Q55786722) | 35033443 | 262648 | Partial duplication of chromosome 10 |
| 35033286 | 263768 | Partial duplication of chromosome X | |
| partial duplication of the short arm of chromosome X (Q55786723) | 35033412 | 262776 | Partial duplication of the short arm of chromosome 10 |
| 35033285 | 263775 | Partial duplication of the short arm of chromosome X | |
| partial duplication of the long arm of chromosome X (Q55786724) | 35033389 | 262914 | Partial duplication of the long arm of chromosome 10 |
| 35033283 | 263783 | Partial duplication of the long arm of chromosome X | |
| T+ B+ severe combined immunodeficiency (Q55787980) | 35035133 | 317416 | T-B+ severe combined immunodeficiency |
| 35036476 | 397802 | T+ B+ severe combined immunodeficiency | |
| X-linked intellectual disability-hypotonic face syndrome (Q55999563) | 35037614 | 73220 | X-linked intellectual disability-hypotonic face syndrome |
| 35039049 | 93970 | Holmes-Gang syndrome | |
| 35039048 | 93971 | Chudley-Lowry-Hoar syndrome | |
| 35039051 | 93972 | Juberg-Marsidi syndrome | |
| 35039050 | 93973 | Carpenter-Waziri syndrome | |
| 35039045 | 93975 | Renier-Gabreels-Jasper syndrome | |
| hyperinsulinemic hypoglycemia, familial, 2 (Q55999635) | 35033894 | 276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency |
| 35033903 | 276603 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | |
| 35038500 | 79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | |
| beta-thalassemia HBB/LCRB (Q56002774) | 35034760 | 231214 | Beta-thalassemia major |
| 35034758 | 231222 | Beta-thalassemia intermedia | |
| glutathione synthetase deficiency (Q102296856) | 35035568 | 289846 | Glutathione synthetase deficiency with 5-oxoprolinuria |
| 35031282 | 32 | Glutathione synthetase deficiency |