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About: methemoglobinemia and ambiguous genitalia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • methemoglobinemia and ambiguous genitalia
described by
id
  • DOID:0112316
database_cross_reference
  • OMIM:250790
has_exact_synonym
  • METAG
  • methemoglobinemia type IV
  • pure isolated 17,20-lyase deficiency
  • methemoglobinemia due to deficiency of cytochrome b5
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 CYB5A on chromosome 18q22.3.
is topic of
is annotatedSource of
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