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ONTOLOGY REPORT - ANNOTATIONS


Term:Mullerian aplasia and hyperandrogenism
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Accession:DOID:0111526 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Mullerian duct failure and hyperandrogenism;   WNT4 deficiency
 primary_id: MESH:C567186
 alt_id: OMIM:158330
 xref: ORDO:247768
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Mullerian aplasia and hyperandrogenism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      Adrenogenital Syndrome 25
        hyperandrogenism 4
          Mullerian aplasia and hyperandrogenism 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        Congenital Abnormalities 3810
          Urogenital Abnormalities 237
            sex development disorder 103
              Adrenogenital Syndrome 25
                hyperandrogenism 4
                  Mullerian aplasia and hyperandrogenism 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.