All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - 2237 1935 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
03771 PBD9B peroxisome biogenesis disorder, type 9B (PBD9B) 614879 AR 0 0 PEX7 - -
01709 RCDP1 chondrodysplasia punctata, rhizomelic, type 1 (RCDP-1) 215100 AR 2 2 PEX7 - -
02048 Refsum Refsum disease (deficiency, phytanic acid oxidase) 266500 AR 3 3 PEX7, PHYH - -
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