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ONTOLOGY REPORT - ANNOTATIONS


Term:androgen insensitivity syndrome
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Accession:DOID:4674 term browser browse the term
Definition:A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Synonyms:exact_synonym: AIS;   ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER;   AR Deficiencies;   AR Deficiency;   Androgen Insensitivity Syndromes;   Androgen Receptor Deficiencies;   Androgen Receptor Deficiency;   Androgen Resistance Syndrome;   Androgen Resistance Syndromes;   Complete Androgen-Insensitivity Syndrome;   Complete Androgen-Insensitivity Syndromes;   DHTR Deficiencies;   DHTR Deficiency;   Dihydrotestosterone Receptor Deficiencies;   Dihydrotestosterone Receptor Deficiency;   FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1;   Feminisation - testicular;   Goldberg-Maxwell syndrome;   Male Pseudohermaphroditism Due to Androgen Insensitivity;   PAIS;   Partial Androgen Insensitivities;   Partial Androgen Insensitivity;   Partial Androgen-Insensitivity Syndrome;   Partial Androgen-Insensitivity Syndromes;   Reifenstein Syndrome;   Reifenstein's Syndrome;   Reifensteins Syndrome;   TFM;   Testicular Feminization;   Testicular Feminization Syndrome;   Testicular Feminization Syndromes;   Testicular Feminizations
 narrow_synonym: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
 primary_id: MESH:D013734;   RDO:0004406
 alt_id: OMIM:300068;   OMIM:312300
 xref: GARD:5803
For additional species annotation, visit the Alliance of Genome Resources.


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androgen insensitivity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:7240710
RGD:8554872
RGD:11576240
RGD:11576235
RGD:11576233
RGD:11576232
RGD:11571628
RGD:11571627
RGD:11571622
RGD:11554173
G Fkbp4 FKBP prolyl isomerase 4 JBrowse link 4 161,748,993 161,757,447 RGD:13592920
G Kat7 lysine acetyltransferase 7 JBrowse link 10 83,095,067 83,128,342 RGD:9681005
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
Lubs Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      androgen insensitivity syndrome 3
        Androgen Insensitivity Syndrome due to Coactivator Deficiency 1
        Lubs Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Urogenital Abnormalities 242
            sex development disorder 113
              46, XY Disorders of Sex Development 41
                androgen insensitivity syndrome 3
                  Androgen Insensitivity Syndrome due to Coactivator Deficiency 1
                  Lubs Syndrome 1
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