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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Mullerian aplasia and hyperandrogenism
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Accession:DOID:0111526 term browser browse the term
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 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: NCI:C120376;   ORDO:247768
For additional species annotation, visit the Alliance of Genome Resources.


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Mullerian aplasia and hyperandrogenism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by OMIM:158330
ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
OMIM
ClinVar
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Adrenogenital Syndrome 24
        hyperandrogenism 4
          Mullerian aplasia and hyperandrogenism 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        Congenital Abnormalities 5191
          Urogenital Abnormalities 261
            disorder of sexual development 156
              46, XX Disorders of Sex Development 28
                hyperandrogenism 4
                  Mullerian aplasia and hyperandrogenism 1
paths to the root