FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Mullerian aplasia and hyperandrogenism ID (Ontology) DOID:0111526 (Human Disease)
Definition A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
Also Known As "Mullerian duct failure and hyperandrogenism" ; "WNT4 deficiency"
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 Genes
 Mullerian aplasia and hyperandrogenism       2
 for disease ribbon | Mullerian aplasia and hyperandrogenism       2
 model of | Mullerian aplasia and hyperandrogenism       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______
gonadal disease                     |
 |__disorder of sexual development__|
                                    Mullerian aplasia and hyperandrogenism  2 rec.
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Is a autosomal dominant disease
disorder of sexual development
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Synonyms
  • "Mullerian duct failure and hyperandrogenism" EXACT
    "WNT4 deficiency" EXACT
Secondary IDs
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MESH:C567186
MIM:158330
NCI:C120376
ORDO:247768
UMLS_CUI:C2675014