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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:partial androgen insensitivity syndrome
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Accession:DOID:0080776 term browser browse the term
Definition:An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. (DO)
Synonyms:exact_synonym: ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER;   FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1;   PAIS;   Partial Androgen Insensitivities;   Partial Androgen Insensitivity;   Partial Androgen-Insensitivity Syndromes;   Reifenstein Syndrome;   Reifenstein's Syndrome;   Reifensteins Syndrome
 narrow_synonym: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
 primary_id: OMIM:312300
 xref: GARD:5692;   NCI:C120192;   ORDO:90797
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      androgen insensitivity syndrome 4
        partial androgen insensitivity syndrome 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Urogenital Abnormalities 324
            disorder of sexual development 162
              46, XY Disorders of Sex Development 46
                androgen insensitivity syndrome 4
                  partial androgen insensitivity syndrome 1
paths to the root