All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01059 - IFAP syndrome with/without BRESHECK syndrome 308205 XLR 46 46 MBTPS2 - -
02206 - Olmsted syndrome, X-linked 300918 XLR 0 0 MBTPS2 - -
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
05716 KFSD keratosis follicularis spinulosa decalvans (KFDS) 612843 - 0 0 MBTPS2 - follicular hyperkeratosis, progressive cicatricial alopecia, photophobia
01060 KFSDX keratosis follicularis spinulosa decalvans, X-linked (KFSDX) 308800 XLR 4 4 MBTPS2, SAT1 - -
05296 OI osteogenesis imperfecta (OI) - AD 4232 1117 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, MBTPS2, MESDC2, P3H1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
05935 OI19 osteogenesis imperfecta type XIX (OI19) 301014 XLR 1 0 MBTPS2 - -
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