| Metadata | |
|---|---|
| ID | DOID:0112316 |
| Name | methemoglobinemia and ambiguous genitalia |
| 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. https://pubmed.ncbi.nlm.nih.gov/20080843/, https://pubmed.ncbi.nlm.nih.gov/22170710/ |
| Xrefs | |
| Synonyms |
METAG [EXACT] methemoglobinemia due to deficiency of cytochrome b5 [EXACT] methemoglobinemia type IV [EXACT] pure isolated 17,20-lyase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |