WormBase Tree Display for DO_term: DOID:0111066
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| DOID:0111066 | Name | congenital bile acid synthesis defect 5 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. | ||||
| Synonym | Exact | CBAS5 | |||
| Parent | Is_a | DOID:0050674 | |||
| DB_info | Database | OMIM | disease | 616278 | |
| Attribute_of | Gene_by_orthology | WBGene00004058 | |||
| WBGene00004059 |
