All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00508 ARCI-4A ichthyosis, congenital, autosomal recessive, type 4A (ARCI-4A) 601277 - - - ABCA12 - -
00507 ARCI-4B ichthyosis, congenital, autosomal recessive, type 4B (ARCI-4B, harlequin) 242500 - - - ABCA12 - -
00174 FH hypercholesterolemia, familial (FH) 143890 - - - ABCA1, APOA2, EPHX2, GHR, ITIH4, LDLR, PPP1R17 - -
00176 HDLCD-2 hypoalphalipoproteinemia (HDL deficiency, type 2 (HDLCD-2)) 604091 - - - ABCA1, APOA1 - -
00175 TGD Tangier disease (TGD) 205400 - - - ABCA1 - -
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