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Metadata
ID DOID:0111526
Name Mullerian aplasia and hyperandrogenism
Definition A sex development disorder characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12.
https://www.ncbi.nlm.nih.gov/pubmed/15317892
Xrefs

MESH:C567186

NCI:C120376

OMIM:158330

ORDO:247768

UMLS_CUI:C2675014

Synonyms

Mullerian duct failure and hyperandrogenism [EXACT]

WNT4 deficiency [EXACT]

Parent Relationships

is_a disorders of sexual development

is_a autosomal dominant disease

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