All diseases

4818 entries on 49 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00018 - 17-beta-hydroxysteroid dehydrogenase X deficiency 300438 - - - HSD17B10 - -
00026 - arthrogryposis, congenital - - - - GLE1 - -
00029 - hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC) 613730 - - - JAM3 - -
00031 - Mulibrey nanism 253250 - - - TRIM37 - -
00044 - amyloidosis, Finnish type (type V) 105120 - - - GSN - -
00053 - RAPADILINO syndrome 266280 - - - RECQL4 - -
00056 - X-linked syndrome of central hypothyroidism and testical enlargement - - - - - - -
00065 - Rett syndrome, congenital variant 613454 - - - FOXG1 - -
00069 - Efavirenz, poor metabolism of 614546 - - - CYP2B6 - -
00099 - dysplasia, ectodermal-syndactyly syndrome, type 1 (EDSS-1) 613573 - - - PVRL4 - -
00100 - Choanal atresia and lymphedema 613611 - - - PTPN14 - -
00122 - aceruloplasminemia 604290 - - - CP - -
00168 - polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC) 612674 - - - ABHD12 - -
00235 - diabetes mellitus, neonatal, transient, type 1 (TNDM-1) 601410 - - - PLAGL1, ZFP57 - -
00249 - Dent disease, type 1 300009 - - - CLCN5 - -
00250 - hypophosphatemic rickets, X-linked recessive (HPXR) 300554 - - - CLCN5 - -
00252 - proteinuria, hypercalciuria, nephrocalcinosis 308990 - - - CLCN5 - -
00284 - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - - - - TBC1D24 - -
00318 - cancer, breast - - - - BRCA1, BRCA2 - -
00323 - Dent disease, type 2 300555 - - - OCRL - -
00355 - dysgenesis, anterior segment - - - - - - -
00423 - cancer, endometrial 608089 - - - CDH1, MLH3, MSH3, MSH6, PTEN - -
00457 - afibrinogenemia, congenital 202400 - - - FGA, FGB, FGG - -
00475 - albinism, ocular, with sensorineural deafness (Waardenburg syndrome, (WS-2OA)) 103470 - - - MITF, TYR - -
00511 - asthma, susceptibility to 600807 - - - ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF - -
00521 - meconium ileus 614665 - - - GUCY2C - -
00522 - amyloidosis, visceral (type VIII) 105200 - - - APOA1, APOA2, B2M, FGA, LYZ - -
00536 - angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI) 105150 - - - CST3 - -
00542 - Schwartz-Jampel syndrome, type 1 255800 - - - HSPG2 - -
00543 - dysplasia, dyssegmental, Silverman-Handmaker type 224410 - - - HSPG2 - -
00544 - GLUT1 deficiency syndrome, type 1 606777 - - - SLC2A1 - -
00545 - GLUT1 deficiency syndrome, type 2 612126 - - - SLC2A1 - -
00557 - Cousin syndrome 260660 - - - TBX15 - -
00558 - Alagille syndrome, type 2 610205 - - - NOTCH2 - -
00559 - Hajdu-Cheney syndrome 102500 - - - NOTCH2 - -
00562 - Hypoparathyroidism-retardation-dysmorphism syndrome 241410 - - - TBCE - -
00566 - Wolcott-Rallison syndrome 226980 - - - EIF2AK3 - -
00569 - Donnai-Barrow syndrome 222448 - - - LRP2 - -
00574 - deletion syndrome, chromosome 2q37 600430 - - - HDAC4 - -
00581 - Boomerang dysplasia 112310 - - - FLNB - -
00583 - telangiectasia, cutaneous, and cancer syndrome, familial 614564 - - - ATR - -
00586 - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 - - - TP63 - -
00588 - Hay-Wells syndrome 106260 - - - TP63 - -
00589 - ADULT syndrome 103285 - - - TP63 - -
00590 - Limb-mammary syndrome 603543 - - - TP63 - -
00591 - Rapp-Hodgkin syndrome 129400 - - - TP63 - -
00593 - RIDDLE syndrome 611943 - - - RNF168 - -
00594 - achondroplasia 100800 - - - FGFR3 - -
00595 - Hypochondroplasia 146000 - - - FGFR3 - -
00597 - Crouzon syndrome, with acanthosis nigricans 612247 - - - FGFR3 - -
00598 - cancer, cervical, somatic 603956 - - - FGFR3 - -
00600 - nevus, epidermal 162900 - - - FGFR3, HRAS, NRAS, PIK3CA - -
00602 - Spermatocytic seminoma, somatic 273300 - - - BCL10, FGFR3, KIT, STK11 - -
00604 - Weyers acrodental dysostosis 193530 - - - EVC, EVC2 - -
00606 - mitochondrial respiratory chain complex II deficiency 252011 - - - SDHA, SDHAF1, SDHD - -
00614 - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 - - - MEF2C - -
00624 - Raine syndrome 259775 - - - FAM20C - -
00625 - dystonia, juvenile-onset 607371 - - - ACTB - -
00628 - Robinow-Sorauf syndrome 180750 - - - TWIST1 - -
00629 - Bosley-Salih-Alorainy syndrome 601536 - - - HOXA1 - -
00630 - Hand-foot-uterus syndrome 140000 - - - HOXA13 - -
00631 - Guttmacher syndrome 176305 - - - HOXA13 - -
00633 - Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 - - - POR - -
00638 - Ehlers-Danlos syndrome, cardiac valvular form 225320 - - - COL1A2 - -
00646 - Polydactyly, preaxial type II 174500 - - - LMBR1 - -
00648 - Roberts syndrome 268300 - - - ESCO2 - -
00649 - SC phocomelia syndrome 269000 - - - ESCO2 - -
00650 - Jackson-Weiss syndrome 123150 - - - FGFR1, FGFR2 - -
00664 - Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 - - - DOCK8 - -
00665 - Bifid nose with or without anorectal and renal anomalies 608980 - - - FREM1 - -
00673 - Scaphocephaly, maxillary retrusion, and mental retardation 609579 - - - FGFR2 - -
00674 - dysplasia, bent bone syndrome (BBDS) 614592 - - - FGFR2 - -
00681 - cancer, pancreatic 260350 - - - KRAS, RBBP8, SMAD4, STK11, TP53 - -
00683 - cancer, breast, familial 114480 - - - 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 - - - HRAS, KRAS, NRAS - -
00698 - Stickler sydrome, type I, nonsyndromic ocular 609508 - - - COL2A1 - -
00699 - dysplasia, Czech 609162 - - - COL2A1 - -
00705 - Metachondromatosis 156250 - - - PTPN11 - -
00715 - Mainzer-Saldino syndrome 266920 - - - IFT140 - -
00719 - Townes-Brocks syndrome 107480 - - - SALL1 - -
00723 - neurofibromatosis, familial spinal 162210 - - - NF1 - -
00727 - Small patella syndrome 147891 - - - TBX4 - -
00729 - Symphalangism, proximal 185800 - - - GDF5, NOG - -
00731 - Tarsal-carpal coalition syndrome 186570 - - - NOG - -
00732 - Stapes ankylosis with broad thumb and toes 184460 - - - NOG - -
00734 - Hyperkalemic periodic paralysis, type 2 170500 - - - SCN4A - -
00736 - myotonia, potassium-aggravated 608390 - - - SCN4A - -
00741 - Schinzel-Giedion midface retraction syndrome 269150 - - - SETBP1 - -
00750 - Alagille syndrome 118450 - - - JAG1 - -
00753 - Popliteal pterygium syndrome, lethal type 263650 - - - RIPK4 - -
00754 - Van den Ende-Gupta syndrome 600920 - - - SCARF2 - -
00757 - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 609528 - - - SNAP29 - -
00759 - dystrophy, neuroaxonal, infantile, type 1 256600 - - - PLA2G6 - -
00771 - Wilson-Turner syndrome 309585 - - - HDAC8 - -
00776 - Borjeson-Forssman-Lehmann syndrome 301900 - - - PHF6 - -
00787 - encephalopathy, neonatal, severe 300673 - - - MECP2 - -
00797 - mental retardation, anterior maxillary protrusion, and strabismus 613671 - - - SOBP - -
00805 - Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 - - - HEPACAM - -
00806 - Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 613926 - - - HEPACAM - -
00808 - Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 - - - IGF1 - -
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