| 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 |
|---|---|
| AMACR | alpha-methylacyl-CoA racemase |
