WormBase Tree Display for DO_term: DOID:0112316
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| DOID:0112316 | Name | methemoglobinemia and ambiguous genitalia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. | ||||
| Synonym | Exact | METAG | |||
| methemoglobinemia due to deficiency of cytochrome b5 | |||||
| methemoglobinemia type IV | |||||
| pure isolated 17,20-lyase deficiency | |||||
| Parent | Is_a | DOID:1923 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 250790 | |
| Attribute_of | Gene_by_orthology | WBGene00007848 | |||
| WBGene00020931 |
