Dataset | OMIM Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. (Orphanet Rare Disease Ontology, Orphanet_79095) |
External Link | http://www.omim.org/entry/614307 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the alpha-methylacyl-coa racemase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Symbol | Name |
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AMACR | alpha-methylacyl-CoA racemase |