All diseases

5282 entries on 53 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00031 - Mulibrey nanism (muscle-liver-brain-eye dwarfism) 253250 - 0 0 TRIM37 - -
00056 - X-linked syndrome of central hypothyroidism and testical enlargement - - 0 0 - - -
00065 - Rett syndrome, congenital variant 613454 - 30 32 FOXG1 - -
00069 - Efavirenz, poor metabolism of 614546 - 0 0 CYP2B6 - -
00100 - Choanal atresia and lymphedema 613611 - 0 21 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 - -
00285 - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - 5 4 TBC1D24 - -
00355 - dysgenesis, anterior segment - - 0 0 - - -
00423 - cancer, endometrial 608089 - 203 171 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 - -
00559 - Hajdu-Cheney syndrome 102500 - 23 11 NOTCH2 - -
00562 - Hypoparathyroidism-retardation-dysmorphism syndrome 241410 - 0 0 TBCE - -
00566 - Wolcott-Rallison syndrome 226980 - 0 0 EIF2AK3 - -
00581 - Boomerang dysplasia 112310 - 5 0 FLNB - -
00583 - telangiectasia, cutaneous, and cancer syndrome, familial 614564 - 1 1 ATR - -
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 - 4 4 FGFR3 - -
00600 - nevus, epidermal 162900 - 0 0 FGFR3, HRAS, NRAS, PIK3CA - -
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 - -
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 - -
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 - 2 0 FREM1 - -
00673 - Scaphocephaly, maxillary retrusion, and mental retardation 609579 - 0 0 FGFR2 - -
00674 - dysplasia, bent bone syndrome (BBDS) 614592 - 5 5 FGFR2 - -
00683 - cancer, breast, familial 114480 - 8011 749 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 - 12 1 GDF5, NOG - -
00731 - Tarsal-carpal coalition syndrome 186570 - 4 0 NOG - -
00732 - Stapes ankylosis with broad thumb and toes 184460 - 6 0 NOG - -
00736 - myotonia, potassium-aggravated 608390 - 3 3 SCN4A - -
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 - 11 24 MECP2 - -
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 - -
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 - -
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 - 16 15 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 - 1 0 CHRM3 - -
00878 - Crigler-Najjar syndrome, type I 218800 - 0 0 UGT1A1 - -
00879 - ulna and fibula, absence of, with severe limb deficiency 276820 - 0 0 WNT7A - -
00880 - Fuhrmann syndrome 228930 - 0 0 WNT7A - -
00886 - Chilblain lupus 610448 - 4 4 TREX1 - -
00887 - Vasculopathy, retinal, with cerebral leukodystrophy 192315 - 6 6 TREX1 - -
00889 - C syndrome 211750 - 0 0 CD96 - -
00898 - Wolf-Hirschhorn syndrome - - 0 0 WHSC1 - -
00904 - Aplasia of lacrimal and salivary glands 180920 - 0 0 FGF10 - -
00906 - Liebenberg syndrome 186550 - 0 0 PITX1 - -
00914 - Oculodentodigital dysplasia 164200 - 0 0 GJA1 - -
00917 - Oculodentodigital dysplasia, autosomal recessive 257850 - 0 0 GJA1 - -
00918 - Hallermann-Streiff syndrome 234100 - 0 0 GJA1 - -
00919 - Sudden infant death with dysgenesis of the testes syndrome 608800 - 0 0 TSPYL1 - -
00927 - cancer, colorectal, somatic - - 8 7 BRAF - -
00930 - Currarino syndrome 176450 - 1 0 MNX1 - -
00931 - mesomelia-synostoses syndrome - - 0 0 SLCO5A1, SULF1 - -
00933 - leukemia, acute, lymphoblastic - - 30 30 PTPN11 - -
00935 - Birk-Barel mental retardation dysmorphism syndrome 612292 - 0 0 KCNK9 - -
00938 - Bamforth-Lazarus syndrome 241850 - 0 0 FOXE1 - -
00940 - mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156 - 0 0 INPP5E - -
00943 - De Sanctis-Cacchione syndrome 278800 - 0 0 ERCC6 - -
00944 - Goldberg-Shprintzen megacolon syndrome 609460 - 2 1 KIAA1279 - -
00946 - cardiomyopathy, hypertrophic, early-onset fatal - - 2 2 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 - -
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