All diseases

59 entries on 1 page. Showing entries 1 - 59.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01310 - epidermolysis bullosa, simplex, simplex, Weber-Cockayne type 131800 AD - - ITGB4, KRT14, KRT5 - -
01670 - asthma, nasal polyps, and aspirin intolerance 208550 AR - - PTGER2, TBX21 - -
01774 - epidermolysis bullosa, junctional, non-Herlitz type 226650 AR 1 1 COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 - -
01777 - epidermolysis bullosa, junctional, with pyloric atresia 226730 AR 1 1 ITGA6, ITGB4 - -
03281 - dystrophy, muscular, congenital, due to integrin alpha-7 deficiency 613204 AR - - ITGA7 - -
04527 AI1H amelogenesis imperfecta, type IH (AI1H) 616221 AR - - ITGB6 - -
02740 AITD thyroid disease, autoimmune, susceptibility to (AITD) 608175 - - - TG, ZFAT - susceptibility
00190 ARCI1 ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1) 242300 AR 155 140 TGM1 - -
00192 ARCI2 ichthyosis, congenital, autosomal recessive, type 2 (ARCI-2) 242100 AR 3 3 ALOX12B, TGM1 - -
01182 ARVD1 dysplasia, arrhythmogenic right ventricular, type 1 (ARVD-1) 107970 AD - - TGFB3 - -
02645 ASRT1 asthma-related traits, susceptibility to, type 1 (ASRT-1) 607277 - - - PTGDR - -
01576 BDPLT16 bleeding disorder, platelet, type 16 187800 AD - - ITGA2B - -
07096 BDPLT24 bleeding disorder, platelet, type 24 619271 AD - - ITGB3 - -
03579 BDPLT9 bleeding disorder, platelet type 9 (BDPLT-9) 614200 - - - ITGA2 - -
05692 BRWS Baraitser-Winter syndrome (BRWS) - - 42 42 ACTB, ACTG1 - -
01012 BRWS2 Baraitser-Winter syndrome, type 2 (BRWS2) 614583 AD 4 4 ACTG1 - -
01305 CAEND;DPD1 Camurati-Engelmann disease (CAEND, dysplasia, diaphyseal, progressive type 1 (DPD-1)) 131300 AD - - TGFB1 - -
00882 cancer, esophageal cancer, esophageal 133239 - 9 1 DCC, DEC1, DLEC1, LZTS1, RNF6, TGFBR2, WWOX - -
05031 CATMANS Catel-Manzke syndrome (CATMANS) 616145 AR 4 4 KYNU, TGDS - -
00462 CDA dystrophy, cornea, Avellino type (CDA) 607541 AD 8 8 TGFBI - -
00460 CDGG1 dystrophy, corneal, Groenouw type I (CDGG-1) 121900 AD 5 5 TGFBI - -
00465 CDL3A dystrophy, corneal, lattice type IIIA (CDL-3A) 608471 AD 18 18 TGFBI - -
00464 CDRB;CDB1 dystrophy, corneal, Reis-Bucklers type (CDRB, corneal dystrophy of Bowman layer type 1 (CDB-1)) 608470 - 10 9 TGFBI - -
00463 CDTB;CDB2 dystrophy, corneal, Thiel-Behnke type (CDTB, corneal dystrophy of Bowman layer type2 (CDB-2)) 602082 AD 5 4 TGFBI - -
00128 CF cystic fibrosis (CF) 219700 AR 562 554 CFTR, FCGR2A, TGFB1 - -
01011 DFNA20;DFNA26 deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26) 604717 AD 14 5 ACTG1 - -
01266 EBMD dystrophy, corneal, epithelial basement membrane (EBMD) 121820 AD 1 1 TGFBI - -
00104 EHT hypertension, essential, susceptibility to (EHT) 145500 Mu 2 388 ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE - -
07095 GT1 thrombasthenia, Glanzmann's, type 1 273800 AR - - ITGA2B - -
02093 GT2;BDPLT23 thrombasthenia, Glanzmann's, type 2 619267 AR 2 2 ITGB3 - -
05464 HNPCC (Lynch) cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome) - - 1602 629 EPCAM, MLH1, MLH3, MSH2, MSH6, PMS2, TGFBR2 - -
00881 HNPCC6 cancer, colorectal, nonpolyposis, hereditary, type 6 (HNPCC-6) 614331 - - - TGFBR2 - -
00438 HPE holoprosencephaly (HPE) 236100 - 15 14 GLI2, SHH, SIX3, TGIF1, ZIC2 - -
01369 HPE4 holoprosencephaly, type 4 (HPE-4) 142946 AD - - TGIF1 - -
03008 IBD10 bowel disease, inflammatory, type 10 (IBD-10) 611081 - - - ATG16L1 - -
06431 IBDIMDE Inflammatory bowel disease, immunodeficiency, and encephalopathy 618213 AR - - TGFB1 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
03722 ILNEB lung disease, interstitial, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) 614748 AR 2 2 ITGA3 - -
06956 LAD leukocyte adhesion deficiency - - 432 432 FERMT3, ITGB2 - -
01240 LAD1 leukocyte adhesion deficiency, type I 116920 AR 1 1 ITGB2 - -
00461 LCD1 dystrophy, corneal, lattice type I (LCD-1) 122200 AD 24 24 TGFBI - -
00884 LDS Loeys-Dietz syndrome (LDS) - - 54 53 SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 - -
02831 LDS1 Loeys-Dietz syndrome, type 1 (LDS-1) 609192 AD 16 13 TGFBR1 - -
00883 LDS2 Loeys-Dietz syndrome, type 2 (LDS-2) 610168 AD 12 11 TGFBR2 - autosomal dominant
00203 LDS4 Loeys-Dietz syndrome, type 4 (LDS_4) 614816 AD 4 3 TGFB2 - hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); no cervical spine instability (-HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); dissection at young age; arterial tortuosity (HP:0005116)
04015 LDS5;RNHF Loeys-Dietz syndrome, type 5 (LDS-5, Rienhoff syndrome (RNHF)) 615582 AD 2 2 TGFB3 - hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); cervical spine instability (HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); no pneumothorax (-HP:0002107); hernia (HP:0100790); no arterial tortuosity (-HP:0005116)
02760 MCI1 myocardial infarction, susceptibility to, type 1 (MCI-1) 608446 - 41 2 ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4 - -
05446 ML mucolipidosis (ML) - - 10 10 GNPTAB, GNPTG - -
01931 ML3C mucolipidosis, type III, gamma (ML-3C) 252605 AR 8 8 GNPTG - -
01319 MSSE epithelioma, squamous, multiple self healing (MSSE) 132800 AD - - TGFBR1 - -
02876 PSS2 skin, peeling, syndrome, type 2 (PSS-2) 609796 AR - - TGM5 - -
01593 RHDA1 hypodysplasia/aplasia, renal, type 1 (RHDA1) 191830 AR 1 1 ITGA8 - -
00216 SCA35 ataxia, spinocerebellar, type 35 (SCA-35) 613908 AD 1 1 TGM6 - -
06705 SCAR25 ?Spinocerebellar ataxia, autosomal recessive 25 617584 AR - - ATG5 - -
02887 SLEB6 lupus erythematosus, systemic, type 6 (SLEB-6) 609939 - - - ITGAM - -
02099 TDH3 thyroid dyshormonogenesis, type 3 (TDH-3) 274700 AR - - TG - -
05273 UHS hair, uncombable syndrome (UHS) - - 11 11 PADI3, TCHH, TGM3 hair -
05275 UHS2 hair, uncombable syndrome, type 2 (UHS-2) 617251 AR - - TGM3 hair -
01430 VSCM myopathy, visceral (VSCM; megaduodenum and/or megacystis) 155310 AD 68 68 ACTG2 - autosomal dominant
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