methemoglobinemia and ambiguous genitalia

Summary

DOID:0112316 - methemoglobinemia and ambiguous genitalia

Disease Ontology 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.

Synonyms: METAG, methemoglobinemia due to deficiency of cytochrome b5, methemoglobinemia type IV, pure isolated 17,20-lyase deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cyb5a

MIM:

MIM:250790 - METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG

MIM:250790 - METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), disorder of sexual development (is_a)