All diseases

11 entries on 1 page. Showing entries 1 - 11.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00780 CIIPX pseudoobstruction, intestinal, neuronal, chronic idiopathic, X-linked (CIIPX) 300048 - - - FLNA - -
00785 CVD-1;XMVD dysplasia, valvular, cardiac, X-linked, type 1 (CVD-1, myxomatous valvular dystrophy, X-linked (XMVD)) 314400 - - - FLNA - -
00784 FGS-2 FG syndrome, type 2 (FGS-2) 300321 - - - FLNA - -
00782 FMD dysplasia, frontometaphyseal (FMD) 305620 - - - FLNA - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00781 MNS Melnick-Needles syndrome (MNS) 309350 - - - FLNA - -
00778 OPD-1 otopalatodigital syndrome, type I (OPD-1) 311300 - - - FLNA - -
00779 OPD-2 otopalatodigital syndrome, type II (OPD-2) 304120 - - - FLNA - -
00777 PVNH-1 heterotopia, periventricular, type 1 (PVNH-1) 300049 - - - FLNA - -
00783 PVNH-4 heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4) 300537 - - - FLNA - -
00786 TOD terminal osseous dysplasia (TOD) 300244 - - - FLNA - -
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