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Human Disease

methemoglobinemia and ambiguous genitalia

Term ID
DOID:0112316
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. (2)
References
Ontology
Human Disease   ( DOID:0112316 )
Relationships
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Genes Involved
Zebrafish Models