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
00785 CVD1;XMVD;EDS5 dysplasia, valvular, cardiac, X-linked, type 1 (CVD-1, XMVD, EDS5) 314400 XL 51 51 FLNA - -
00784 FGS2 FG syndrome, type 2 (FGS-2) 300321 XL 1 1 FLNA - -
00782 FMD1 dysplasia, frontometaphyseal (FMD1) 305620 XLR 58 59 FLNA - -
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 - -
00780 IPOX intestinal pseudoobstruction, neuronal 300048 XLR 3 3 FLNA - -
00781 MNS Melnick-Needles syndrome (MNS) 309350 XLD 26 26 FLNA - -
00778 OPD1 otopalatodigital syndrome, type I (OPD-1) 311300 XLD 16 16 FLNA - -
00779 OPD2 otopalatodigital syndrome, type II (OPD-2) 304120 XLD 20 20 FLNA - -
00777 PVNH1 heterotopia, periventricular, type 1 (PVNH-1) 300049 XLD 54 54 FLNA - -
00783 PVNH4 heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4) 300537 - 17 17 FLNA - -
00786 TOD terminal osseous dysplasia (TOD) 300244 XLD 10 10 FLNA - -
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