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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:complete androgen insensitivity syndrome
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Accession:DOID:0080775 term browser browse the term
Definition:An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. (DO)
Synonyms:exact_synonym: complete androgen-insensitivity syndromes
 xref: ICD10CM:E34.51;   ORDO:99429

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complete androgen insensitivity syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Complete androgen insensitivity syndrome ClinVar PMID:25741868 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    syndrome 9901
      androgen insensitivity syndrome 5
        complete androgen insensitivity syndrome 1
Path 2
Term Annotations click to browse term
  disease 14615
    Developmental Disease 12800
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12006
        Congenital Abnormalities 7256
          Urogenital Abnormalities 430
            disorder of sexual development 223
              46, XY Disorders of Sex Development 82
                androgen insensitivity syndrome 5
                  complete androgen insensitivity syndrome 1
paths to the root