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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 sex differentiation disease that is characterized by the partial or complete 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;   ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER;   AR Deficiencies;   AR Deficiency;   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 Feminizations;   androgen insensitivity syndromes;   testicular feminization syndromes
 narrow_synonym: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
 primary_id: MESH:D013734
 alt_id: OMIM:300068;   OMIM:312300
 xref: GARD:5803;   ICD10CM:E34.5;   ICD10CM:E34.51;   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: Dihydrotestosterone receptor deficiency
ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Reifenstein syndrome
ClinVar Annotator: match by OMIM:312300
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 term: Androgen insensitivity, partial, with breast cancer
ClinVar Annotator: match by OMIM:300068
OMIM
ClinVar
CTD
PMID:1158706, PMID:1303262, PMID:1307250, PMID:1430233, PMID:1458719, PMID:1569163, PMID:1598912, PMID:1609793, PMID:1720929, PMID:2010552, PMID:2082179, PMID:2293020, PMID:2332504, PMID:2339702, PMID:2594783, PMID:2918059, 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:8446106, PMID:8450040, PMID:8450042, PMID:8626869, PMID:8723113, PMID:8809734, PMID:8823308, PMID:8824883, PMID:8990010, PMID:9039340, PMID:9328206, PMID:9345099, PMID:9360511, PMID:9543136, PMID:9544375, PMID:9576916, PMID:9627582, PMID:9698822, PMID:9768671, PMID:9851768, PMID:9856504, PMID:10092153, PMID:10221770, PMID:10323251, PMID:10323385, PMID:10425033, PMID:10458483, PMID:10485299, PMID:10543676, PMID:10690872, PMID:10834333, PMID:10840043, PMID:10999818, 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:15001585, PMID:15531547, PMID:15541764, PMID:15925895, PMID:16083860, PMID:16283146, PMID:16365032, PMID:16373394, PMID:16450583, PMID:16804045, PMID:17054461, PMID:17937062, PMID:19463997, PMID:20011049, PMID:20150575, PMID:20493947, PMID:20671138, PMID:21730179, PMID:21962961, PMID:22334387, 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:30311386, 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
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:30311386 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 16103
    syndrome 6989
      androgen insensitivity syndrome 4
        Androgen Insensitivity Syndrome due to Coactivator Deficiency 1
        Lubs Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Urogenital Abnormalities 286
            disorders of sexual development 182
              46, XY Disorders of Sex Development 42
                androgen insensitivity syndrome 4
                  Androgen Insensitivity Syndrome due to Coactivator Deficiency 1
                  Lubs Syndrome 0
paths to the root

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