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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:androgen insensitivity syndrome
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Accession:DOID:4674 term browser browse the term
Definition:A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. (DO)
Synonyms:exact_synonym: AIS;   AR Deficiencies;   AR Deficiency;   Androgen Receptor Deficiency;   Androgen Resistance Syndrome;   DHTR Deficiencies;   DHTR Deficiency;   Dihydrotestosterone Receptor Deficiencies;   Dihydrotestosterone Receptor Deficiency;   Feminisation - testicular;   Goldberg-Maxwell syndrome;   Male Pseudohermaphroditism Due to Androgen Insensitivity;   TFM;   Testicular Feminization;   androgen insensitivity syndromes;   androgen receptor deficiencies;   androgen resistance syndromes;   testicular feminization syndrome;   testicular feminization syndromes;   testicular feminizations
 primary_id: MESH:D013734
 alt_id: OMIM:300068
 xref: GARD:5803;   ICD10CM:E34.5;   ICD9CM:259.51;   NCI:C120191;   NCI:C27226;   ORDO:754
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
androgen insensitivity syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
IEP		 ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
DNA:missense mutation:exon:p.M749V (human)
DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)
DNA:missense mutation:exon:p.R615S (human)
DNA:point mutation, repeats:exon
DNA:deletion
protein:altered localization:spinal cord, motor neuron, cytoplasm
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833 		JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567 		JBrowse link
Androgen Insensitivity Syndrome due to Coactivator Deficiency 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: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:16804045 PMID:28492532 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
Lubs 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: Type I familial incomplete male pseudohermaphroditism ClinVar PMID:16804045 PMID:28492532 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
partial 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: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome OMIM
ClinVar		 PMID:1303262 PMID:1430233 PMID:1598912 PMID:2010552 PMID:2918059 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      androgen insensitivity syndrome 4
        Androgen Insensitivity Syndrome due to Coactivator Deficiency 1
        Lubs Syndrome 1
        complete androgen insensitivity syndrome 1
        partial androgen insensitivity syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Urogenital Abnormalities 422
            disorder of sexual development 230
              46, XY Disorders of Sex Development 80
                androgen insensitivity syndrome 4
                  Androgen Insensitivity Syndrome due to Coactivator Deficiency 1
                  Lubs Syndrome 1
                  complete androgen insensitivity syndrome 1
                  partial androgen insensitivity syndrome 1
paths to the root