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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 Deficiencies;   Androgen Receptor Deficiency;   Androgen Resistance Syndrome;   Androgen Resistance Syndromes;   DHTR Deficiencies;   DHTR Deficiency;   Dihydrotestosterone Receptor Deficiencies;   Dihydrotestosterone Receptor Deficiency;   Feminisation - testicular;   Goldberg-Maxwell syndrome;   Male Pseudohermaphroditism Due to Androgen Insensitivity;   TFM;   Testicular Feminization;   Testicular Feminization Syndrome;   Testicular Feminizations;   androgen insensitivity syndromes;   testicular feminization syndromes
 primary_id: MESH:D013734
 alt_id: OMIM:300068
 xref: GARD:5803;   ICD10CM:E34.5;   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
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1720929 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7641413 PMID:7671849 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8281139 PMID:8325932 PMID:8339746 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8626869 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9039340 PMID:9328206 PMID:9360511 PMID:9543136 PMID:9544375 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9856504 PMID:10092153 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10425033 PMID:10458483 PMID:10690872 PMID:10834333 PMID:10840043 PMID:11181525 PMID:11225909 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11587068 PMID:11788616 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12705360 PMID:12843171 PMID:14974091 PMID:15531547 PMID:15541764 PMID:15925895 PMID:16083860 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:17054461 PMID:17937062 PMID:19463997 PMID:20011049 PMID:20150575 PMID:20493947 PMID:20671138 PMID:21730179 PMID:21962961 PMID:22334387 PMID:22995991 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25326637 PMID:25433660 PMID:25613104 PMID:25674389 PMID:25741868 PMID:26688387 PMID:26778393 PMID:26980296 PMID:27267075 PMID:27583472 PMID:27899157 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28624954 PMID:28857053 PMID:29051026 PMID:29785970 PMID:30599484, PMID:1487249, PMID:8325950, PMID:1424203, PMID:20888558, PMID:7970939, PMID:3186717, PMID:7643075 RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:83,095,067...83,128,342
Ensembl chr10:83,095,068...83,128,297
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 PMID:7581399 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8281139 PMID:8325932 PMID:8446106 PMID:8723113 PMID:8823308 PMID:8824883 PMID:9039340 PMID:9345099 PMID:9543136 PMID:9768671 PMID:9851768 PMID:10485299 PMID:10543676 PMID:10999818 PMID:11788616 PMID:11788673 PMID:15001585 PMID:15925895 PMID:16083860 PMID:16450583 PMID:16804045 PMID:17054461 PMID:20011049 PMID:24321103 PMID:24737579 PMID:25241384 PMID:25326637 PMID:25741868 PMID:26778393 PMID:27267075 PMID:28186600 PMID:28261839 PMID:28492532 PMID:28624954 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Urogenital Abnormalities 289
            disorder of sexual development 184
              46, XY Disorders of Sex Development 43
                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