methemoglobinemia and ambiguous genitalia (DOID:0112316)
Alliance: disease page
Synonyms: METAG; methemoglobinemia due to deficiency of cytochrome b5; methemoglobinemia type IV; pure isolated 17,20-lyase deficiency
Alt IDs: OMIM:250790
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.