All diseases

4958 entries on 50 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00026 - arthrogryposis, congenital - 4 5 GLE1 - -
00031 - Mulibrey nanism (muscle-liver-brain-eye dwarfism) 253250 0 0 TRIM37 - -
00044 - amyloidosis, Finnish type (type V) 105120 24 24 GSN - -
00056 - X-linked syndrome of central hypothyroidism and testical enlargement - 0 0 - - -
00065 - Rett syndrome, congenital variant 613454 19 32 FOXG1 - -
00069 - Efavirenz, poor metabolism of 614546 0 0 CYP2B6 - -
00100 - Choanal atresia and lymphedema 613611 0 0 PTPN14 - -
00122 - aceruloplasminemia 604290 3 1 CP - -
00250 - rickets, hypophosphatemic, X-linked recessive 300554 2 2 CLCN5 - -
00252 - proteinuria, hypercalciuria, nephrocalcinosis 308990 4 4 CLCN5 - -
00284 - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - 2 1 TBC1D24 - -
00318 - cancer, breast - 13060 10823 BRCA1, BRCA2 - -
00355 - dysgenesis, anterior segment - 0 0 - - -
00423 - cancer, endometrial 608089 0 0 CDH1, MLH3, MSH3, MSH6, PTEN - -
00457 - afibrinogenemia, congenital 202400 3 3 FGA, FGB, FGG - -
00511 - asthma, susceptibility to 600807 1 1 ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF - -
00521 - meconium ileus 614665 1 1 GUCY2C - -
00522 - amyloidosis, visceral (type VIII) 105200 3 2 APOA1, APOA2, B2M, FGA, LYZ - -
00536 - angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI) 105150 1 1 CST3 - -
00557 - Cousin syndrome 260660 0 0 TBX15 - -
00558 - Alagille syndrome, type 2 610205 1 1 NOTCH2 - -
00559 - Hajdu-Cheney syndrome 102500 0 0 NOTCH2 - -
00562 - Hypoparathyroidism-retardation-dysmorphism syndrome 241410 0 0 TBCE - -
00566 - Wolcott-Rallison syndrome 226980 0 0 EIF2AK3 - -
00569 - Donnai-Barrow syndrome 222448 0 0 LRP2 - -
00581 - Boomerang dysplasia 112310 0 0 FLNB - -
00583 - telangiectasia, cutaneous, and cancer syndrome, familial 614564 0 0 ATR - -
00586 - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 0 0 TP63 - -
00588 - Hay-Wells syndrome 106260 0 0 TP63 - -
00589 - ADULT syndrome 103285 0 0 TP63 - -
00590 - Limb-mammary syndrome 603543 0 0 TP63 - -
00591 - Rapp-Hodgkin syndrome 129400 0 0 TP63 - -
00593 - RIDDLE syndrome 611943 0 0 RNF168 - -
00594 - achondroplasia 100800 0 0 FGFR3 - -
00595 - Hypochondroplasia 146000 0 0 FGFR3 - -
00597 - Crouzon syndrome, with acanthosis nigricans 612247 0 0 FGFR3 - -
00598 - cancer, cervical, somatic 603956 1 1 FGFR3 - -
00600 - nevus, epidermal 162900 0 0 FGFR3, HRAS, NRAS, PIK3CA - -
00604 - Weyers acrodental dysostosis 193530 0 0 EVC, EVC2 - -
00606 - mitochondrial respiratory chain complex II deficiency 252011 0 0 SDHA, SDHAF1, SDHD - -
00614 - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 1 1 MEF2C - -
00624 - Raine syndrome 259775 0 0 FAM20C - -
00625 - dystonia, juvenile-onset 607371 0 0 ACTB - -
00628 - Robinow-Sorauf syndrome 180750 0 0 TWIST1 - -
00629 - Bosley-Salih-Alorainy syndrome 601536 0 0 HOXA1 - -
00630 - Hand-foot-uterus syndrome 140000 0 0 HOXA13 - -
00631 - Guttmacher syndrome 176305 0 0 HOXA13 - -
00633 - steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency 613571 0 0 POR - -
00638 - Ehlers-Danlos syndrome, cardiac valvular form 225320 1 1 COL1A2 - -
00646 - Polydactyly, preaxial type II 174500 1 1 LMBR1 - -
00648 - Roberts syndrome 268300 38 38 ESCO2 - -
00649 - SC phocomelia syndrome 269000 3 3 ESCO2 - -
00650 - Jackson-Weiss syndrome 123150 0 0 FGFR1, FGFR2 - -
00664 - Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 0 0 DOCK8 - -
00665 - Bifid nose with or without anorectal and renal anomalies 608980 0 0 FREM1 - -
00673 - Scaphocephaly, maxillary retrusion, and mental retardation 609579 0 0 FGFR2 - -
00674 - dysplasia, bent bone syndrome (BBDS) 614592 5 5 FGFR2 - -
00681 - cancer, pancreatic 260350 11 1 KRAS, RBBP8, SMAD4, STK11, TP53 - -
00683 - cancer, breast, familial 114480 765 748 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
00684 - SFM syndrome, somatic mosaic 163200 0 0 HRAS, KRAS, NRAS - -
00698 - Stickler sydrome, type I, nonsyndromic ocular 609508 9 10 COL2A1 - -
00699 - dysplasia, Czech 609162 4 4 COL2A1 - -
00705 - Metachondromatosis 156250 0 0 PTPN11 - -
00715 - Mainzer-Saldino syndrome 266920 2 2 IFT140 - -
00723 - neurofibromatosis, familial spinal 162210 0 0 NF1 - -
00729 - Symphalangism, proximal 185800 0 0 GDF5, NOG - -
00731 - Tarsal-carpal coalition syndrome 186570 0 0 NOG - -
00732 - Stapes ankylosis with broad thumb and toes 184460 0 0 NOG - -
00734 - Hyperkalemic periodic paralysis, type 2 170500 8 8 SCN4A - -
00736 - myotonia, potassium-aggravated 608390 3 3 SCN4A - -
00741 - Schinzel-Giedion midface retraction syndrome 269150 1 1 SETBP1 - -
00750 - Alagille syndrome 118450 1 1 JAG1 - -
00753 - Popliteal pterygium syndrome, lethal type 263650 0 0 RIPK4 - -
00754 - Van den Ende-Gupta syndrome 600920 0 0 SCARF2 - -
00757 - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 609528 1 1 SNAP29 - -
00771 - Wilson-Turner syndrome 309585 0 0 HDAC8 - -
00787 - encephalopathy, neonatal, severe 300673 6 19 MECP2 - -
00797 - mental retardation, anterior maxillary protrusion, and strabismus 613671 0 0 SOBP - -
00805 - Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 0 0 HEPACAM - -
00806 - Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 613926 0 0 HEPACAM - -
00808 - Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 9 9 IGF1 - -
00811 - atrophy, muscular, spinal, lower extremity, autosomal dominant 158600 0 0 DYNC1H1 - -
00820 - mental retardation, X-linked, Snyder-Robinson type 309583 0 0 SMS - -
00821 - mental retardation, X-linked, with epilepsy 300423 0 0 ATP6AP2 - -
00823 - mental retardation, X-linked, syndromic, Claes-Jensen type 300534 0 0 KDM5C - -
00825 - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) 300486 5 3 OPHN1 - -
00829 - immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 0 0 MAGT1 - -
00838 - mental retardation, X-linked syndromic, Raymond type 300799 0 0 ZDHHC9 - -
00839 - mental retardation, X-linked syndromic, Christianson type 300243 0 0 SLC9A6 - -
00840 - mental retardation, X-linked, FRAXE type 309548 0 0 AFF2 - -
00845 - Alazami syndrome 615071 1 1 LARP7 - -
00849 - Hydrocephalus, nonsyndromic, autosomal recessive 2 615219 0 0 MPDZ - -
00852 - Hydrocephalus, nonsyndromic, autosomal recessive 236600 0 0 CCDC88C - -
00858 - Chudley-McCullough syndrome 604213 1 1 GPSM2 - -
00859 - Caudal regression syndrome 600145 0 0 VANGL1 - -
00862 - Vohwinkel syndrome with ichthyosis 604117 0 0 LOR - -
00863 - SESAME syndrome 612780 1 1 KCNJ10 - -
00866 - Popliteal pterygium syndrome 119500 0 0 IRF6 - -
00868 - Eagle-Barrett syndrome 100100 0 0 CHRM3 - -
00878 - Crigler-Najjar syndrome, type I 218800 0 0 UGT1A1 - -
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