All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01059 - IFAP syndrome with or without BRESHECK syndrome 308205 - 46 46 MBTPS2 - -
00139 ID intellectual disability (ID) - - 1541 1278 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 531 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 - 4 4 MBTPS2, SAT1 - -
05296 OI osteogenesis imperfecta (OI) - - 3335 599 CCDC134, COL1A1, COL1A2, MBTPS2, MESDC2 - -
02206 OLMSX keratoderma, palmoplantar, mutilating, with periorificial keratotic plaques, X-linked (Olmsted syndrome, X-liked (OLMSX)) 300918 - 0 0 MBTPS2 - -
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