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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.



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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: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Reifenstein syndrome
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
ClinVar Annotator: match by OMIM:300068
ClinVar Annotator: match by OMIM:312300
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
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: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer
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 17289
    syndrome 8166
      androgen insensitivity syndrome 4
        Androgen Insensitivity Syndrome due to Coactivator Deficiency 0
        Lubs Syndrome 0
        complete androgen insensitivity syndrome 1
        partial androgen insensitivity syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Urogenital Abnormalities 342
            disorder of sexual development 181
              46, XY Disorders of Sex Development 47
                androgen insensitivity syndrome 4
                  Androgen Insensitivity Syndrome due to Coactivator Deficiency 0
                  Lubs Syndrome 0
                  complete androgen insensitivity syndrome 1
                  partial androgen insensitivity syndrome 1
paths to the root