Term Name:	methemoglobinemia and ambiguous genitalia
Synonyms:	METAG, methemoglobinemia due to deficiency of cytochrome b5, methemoglobinemia type IV, pure isolated 17,20-lyase deficiency
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.
Ontology:	Human Disease [DOID:0112316]   ( DOID:0112316 )