Methemoglobinemia And Ambiguous Genitalia
Disease ID: disease_node_17165
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| Dbxref | MIM:250790 |
|---|---|
| Subclassof | DOID_1923, DOID_0050737 |
| Data Source | DOID |
| Synonyms | METAG, methemoglobinemia due to deficiency of cytochrome b5, methemoglobinemia type IV, pure isolated 17,20-lyase deficiency |
| Doid Label | methemoglobinemia and ambiguous genitalia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17165 |
| Doid Id | DOID_0112316 |
| Label | Methemoglobinemia And Ambiguous Genitalia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)