FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term methemoglobinemia and ambiguous genitalia ID (Ontology) DOID:0112316 (Human Disease)
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.
Also Known As "METAG" ; "methemoglobinemia due to deficiency of cytochrome b5" ; "methemoglobinemia type IV" (for all, see Synonyms field below)
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 methemoglobinemia and ambiguous genitalia       2
 for disease ribbon | methemoglobinemia and ambiguous genitalia       2
 model of | methemoglobinemia and ambiguous genitalia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
gonadal disease                     |
 |__disorder of sexual development__|
                                    methemoglobinemia and ambiguous genitalia  2 rec.
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Is a autosomal recessive disease
disorder of sexual development
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Synonyms
  • "METAG" EXACT OMO:0003012
    "methemoglobinemia due to deficiency of cytochrome b5" EXACT
    "methemoglobinemia type IV" EXACT
    "pure isolated 17,20-lyase deficiency" EXACT
Secondary IDs
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MIM:250790