OBO ID: DOID:0112316
Term Name: methemoglobinemia and ambiguous genitalia Search Ontology:
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
is a type of:
OTHER methemoglobinemia and ambiguous genitalia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYB5A Methemoglobinemia and ambiguous genitalia 250790
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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