All diseases

6562 entries on 66 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00069 - Efavirenz, poor metabolism of 614546 - 0 0 CYP2B6 - -
00122 - hypoceruloplasminemia, hereditary 604290 AR 3 1 CP - -
00250 - rickets, hypophosphatemic, X-linked recessive 300554 XLR 2 2 CLCN5 - -
00252 - proteinuria, hypercalciuria, nephrocalcinosis 308990 XLR 4 4 CLCN5 - -
00284 - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - - 2 1 TBC1D24 - -
00285 - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - 7 4 TBC1D24 - -
00355 - dysgenesis, anterior segment - - 0 0 - - -
00423 - cancer, endometrial 608089 AD;SMu 219 185 CDH1, MLH3, MSH3, MSH6, PTEN - -
00457 - afibrinogenemia, congenital 202400 AR 3 3 FGA, FGB, FGG - -
00511 - asthma, susceptibility to 600807 AD 1 1 ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF - -
00521 - meconium ileus 614665 AR 1 1 GUCY2C - -
00522 - amyloidosis, visceral (type VIII) 105200 AD 3 2 APOA1, APOA2, B2M, FGA, LYZ - -
00536 - angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI) 105150 AD 1 1 CST3 - -
00557 - Cousin syndrome 260660 AR 0 0 TBX15 - -
00566 - Wolcott-Rallison syndrome 226980 AR 1 0 EIF2AK3 - -
00593 - RIDDLE syndrome 611943 AR 4 5 RNF168 - -
00598 - cancer, cervical, somatic 603956 - 4 4 FGFR3 - -
00600 - nevus, epidermal 162900 - 1 1 FGFR3, HRAS, NRAS, PIK3CA - -
00606 - mitochondrial respiratory chain complex II deficiency 252011 AR 0 0 SDHA, SDHAF1, SDHD - -
00631 - Guttmacher syndrome 176305 AD 0 0 HOXA13 - -
00633 - steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency 613571 - 0 0 POR - -
00649 - SC phocomelia syndrome 269000 AR 3 3 ESCO2 - -
00673 - Scaphocephaly, maxillary retrusion, and mental retardation 609579 - 0 0 FGFR2 - -
00698 - Stickler sydrome, type I, nonsyndromic ocular 609508 AD 10 10 COL2A1 - -
00699 - dysplasia, Czech 609162 AD 5 4 COL2A1 - -
00732 - Stapes ankylosis with broad thumb and toes 184460 AD 6 6 NOG - -
00736 - myotonia congenita, atypical, acetazolamide-responsive 608390 AD 11 4 SCN4A - -
00757 - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 609528 AR 1 1 SNAP29 - -
00787 - encephalopathy, neonatal, severe 300673 XLR 13 26 MECP2 - -
00808 - Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 AR 9 9 IGF1 - -
00825 - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) 300486 XLR 9 6 OPHN1 - -
00840 - mental retardation, X-linked, FRAXE type 309548 XLR 0 0 AFF2 - -
00862 - Vohwinkel syndrome with ichthyosis 604117 AD 0 0 LOR - -
00879 - ulna and fibula, absence of, with severe limb deficiency 276820 AR 0 0 WNT7A - -
00880 - Fuhrmann syndrome 228930 AR 0 0 WNT7A - -
00889 - C syndrome 211750 AD 0 0 CD96 - -
00917 - Oculodentodigital dysplasia, autosomal recessive 257850 AR 0 0 GJA1 - -
00918 - Hallermann-Streiff syndrome 234100 AR 0 0 GJA1 - -
00927 - cancer, colorectal, somatic - - 8 7 BRAF - -
00930 - Currarino syndrome 176450 AD 1 0 MNX1 - -
00931 - mesomelia-synostoses syndrome - XLD 0 0 SLCO5A1, SULF1 - -
00933 - leukemia, acute, lymphoblastic - - 30 30 PTPN11 - -
00935 - Birk-Barel mental retardation dysmorphism syndrome 612292 - 1 0 KCNK9 - -
00938 - Bamforth-Lazarus syndrome 241850 AR 0 0 FOXE1 - -
00943 - De Sanctis-Cacchione syndrome 278800 AR 0 0 ERCC6 - -
00946 - cardiomyopathy, hypertrophic, early-onset fatal - - 7 8 COX15 - -
00950 - dysplasia, craniofacial-skeletal-dermatologic - - 0 0 FGFR2 - -
00951 - Scaphocephaly and Axenfeld-Rieger anomaly - - 0 0 FGFR2 - -
00959 - dysplasia, otodental, chromsome deletion syndrome - - 0 0 FADD, FGF3 - -
00967 - Bowen-Conradi syndrome 211180 AR 0 0 EMG1 - -
00968 - Leukemia, acute myelogenous - - 0 0 KRAS - -
00971 - vitreoretinopathy, with phalangeal epiphyseal dysplasia - - 0 0 COL2A1 - -
00973 - Melorheostosis with osteopoikilosis 155950 - 0 0 LEMD3 - -
00980 - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) 238970 AR 14 14 SLC25A15 - -
00998 - Miller-Dieker lissencephaly syndrome - - 0 0 PAFAH1B1 - -
00999 - Carney complex variant 608837 - 7 8 MYH8 - -
01005 - melanoma, desmoplastic neurotrophic - - 0 0 NF1 - -
01043 - bleeding time, prolonged, brachydactyly and mental retardation - - 0 0 GNAS - -
01048 - velocardiofacial syndrome 192430 AD 2 2 DGCR14, DGCR2, DGCR6, DGCR8, TBX1 - -
01058 - Proud syndrome 300004 XL 0 0 ARX - -
01059 - IFAP syndrome with/without BRESHECK syndrome 308205 XLR 46 46 MBTPS2 - -
01076 - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis - - 2 4 COL4A5 - -
01103 - Leukemia, acute promyelocytic, PL2F/RARA type - - 0 0 ZBTB16 - -
01104 - Skeletal defects, genital hypoplasia, and mental retardation 612447 AR 1 0 ZBTB16 - -
01117 - mental retardation, X-linked syndromic, Fried type 300630 - 0 0 AP1S2 - -
01121 - agenesis, corpus callosum, with mental retardation, ocular coloboma and micrognathia 300472 XLR 0 0 IGBP1 - -
01124 - mental retardation, X-linked, syndromic, Martin-Probst type 300519 - 0 0 RAB40AL - -
01127 - mental retardation, X-linked, with isolated growth hormone deficiency 300123 - 0 0 SOX3 - -
01150 - Blepharophimosis-ptosis-intellectual disability syndrome 615057 - 0 0 UBE3B - -
01164 - adenosine triphosphate, elevated 102900 AD 1 1 PKLR - -
01173 - amyloidosis, hereditary, transthyretin-related 105210 AD 613 613 TTR - -
01175 - sclerosis, lateral, amyotrophic/Parkinsonism/dementia complex 1 105500 AD 0 0 TRPM7 - -
01206 - blood group system, Rhesus system and polypeptide 111690 - 0 0 RHCE - -
01210 - blood group system, antigen in Cartwright 112100 - 0 0 ACHE - -
01218 - Burkitt lymphoma 113970 - 63 63 MYC - -
01222 - tumor, carcinoid, intestinal 114900 - 1 0 SDHD - -
01242 - dementia, familial, Danish 117300 AD 0 0 ITM2B - -
01254 - Digital clubbing, isolated congenital 119900 AR 1 1 HPGD - -
01258 - Coloboma of optic disc 120430 AD 0 0 PAX6 - -
01282 - Dermatopathia pigmentosa reticularis 125595 AD 0 0 KRT14 - -
01283 - diabetes insipidus, neurohypophyseal 125700 AD 0 0 AVP - -
01310 - epidermolysis bullosa, simplex, simplex, Weber-Cockayne type 131800 AD 0 0 ITGB4, KRT14, KRT5 - -
01311 - epidermolysis bullosa, pretibial 131850 AD;AR 6 6 COL7A1 - -
01312 - Epidermolysis bullosa simplex, Koebner type 131900 AD 0 0 KRT14, KRT5 - -
01315 - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) 132000 AD 8 8 COL7A1 - -
01318 - Cylindromatosis, familial 132700 AD 0 0 CYLD - -
01321 - erythromelalgia, primary 133020 AD 31 31 SCN9A - -
01339 - fundus albipunctatus (retinitis punctata albescens (RPA)) 136880 AD;AR 109 109 PRPH2, RDH5, RHO, RLBP1 - -
01342 - lymphoma, MALT, somatic 137245 - 0 0 BCL10 - -
01358 - hawkinsinuria 140350 AD 0 0 HPD - -
01364 - hepatic adenoma, somatic 142330 - 0 0 HNF1A - -
01381 - Hyperchylomicronemia, late-onset 144650 - 0 0 APOA5 - -
01383 - hyperostosis, endosteal (Worth disease) 144750 AD 2 0 LRP5 - -
01395 - ichthyosis vulgaris 146700 AD;AR 2 1 FLG - -
01401 - sarcoma, Kaposi, susceptibility to 148000 AD 0 0 IL6 - -
01402 - keratitis, hereditary 148190 AD 0 0 PAX6 - -
01404 - keratoderma palmoplantar, deafness 148350 AD 1 1 GJB2 - -
01421 - anemia, macrocytic, refractory, due to 5q deletion, somatic 153550 - 0 0 RPS14 - -
01433 - melanoma astrocytoma syndrome 155755 AD 0 0 CDKN2A - -
01438 - dysplasia, metatrophic 156530 AD 4 0 TRPV4 - -
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