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| 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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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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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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autosomal dominant disease disorder of sexual development |
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External Crossreferences & Linkouts
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MESH:C567186 MIM:158330 NCI:C120376 ORDO:247768 UMLS_CUI:C2675014 |
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