Terminology Service for NFDI4Health
Androgen-Insensitivity Syndrome
Go to external page http://purl.bioontology.org/ontology/MESH/D013734A 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.
A disorder also known as complete androgen insensitivity syndrome (CAIS). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype.
A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE.
Instance info
Synonyms
Deficiency, Dihydrotestosterone Receptor, Feminization Syndrome, Testicular, Feminization Syndromes, Testicular, Androgen Insensitivity Syndrome, Receptor Deficiencies, Dihydrotestosterone, Androgen Receptor Deficiencies, Androgen Insensitivity Syndromes, Testicular Feminization Syndrome, Deficiencies, DHTR, Reifenstein's Syndrome, Feminizations, Testicular, Deficiency, AR, Testicular Feminizations, Complete Androgen-Insensitivity Syndrome, Androgen Resistance Syndrome, Insensitivity Syndromes, Androgen, Deficiencies, Androgen Receptor, Male Pseudohermaphroditism Due to Androgen Insensitivity, Insensitivity Syndrome, Androgen, Partial Androgen Insensitivities, Androgen Resistance Syndromes, Feminization, Testicular, Insensitivities, Partial Androgen, Deficiencies, Dihydrotestosterone Receptor, Resistance Syndrome, Androgen, AR Deficiencies, Resistance Syndromes, Androgen, Testikuläre Feminisierung (DE), Deficiency, DHTR, Androgen Receptor Deficiency, Androgen-Insensitivity Syndrome, Partial, DHTR Deficiencies, Complete Androgen-Insensitivity Syndromes, Androgen-Insensitivity Syndromes, Complete, Insensitivity, Partial Androgen, Reifenstein Syndrome, Androgen-Insensitivity Syndromes, Partial Androgen Insensitivity, Androgen Insensitivities, Partial, Reifensteins Syndrome, Dihydrotestosterone Receptor Deficiency, Deficiency, Androgen Receptor, Testicular Feminization, Androgen Insensitivity Syndrome, Complete, Testicular Feminization Syndromes, Androgen-Insensitivity Syndrome, Complete, Receptor Deficiency, Dihydrotestosterone, Dihydrotestosterone Receptor Deficiencies, AR Deficiency, Partial Androgen-Insensitivity Syndromes, Receptor Deficiencies, Androgen, Receptor Deficiency, Androgen, Partial Androgen-Insensitivity Syndrome, DHTR Deficiency, Androgen-Insensitivity Syndromes, Partial, Androgenresistenz-Syndrom (DE), Androgen Insensitivity, Partial, Androgen Insensitivity Syndrome, Partial, Deficiencies, AR
AN
check the tag MALE
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
19700101
HN
2002(1968)
MDA
19990101
MMR
20130708
MN
C19.391.119.096.500,C13.351.875.253.096.500,C12.706.316.096.500,C16.320.322.061,C16.131.939.316.096.500
PM
2002; see TESTICULAR FEMINIZATION (1970-2001)
QB
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D006061,http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D017624,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D030321,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D006105
TERMUI
T781893,T750927,T781892,T426481,T426480,T839575,T839576,T424067,T424068,T811923,T811924,T812205,T750926,T040334,T040333
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2010),NLM (1998),NLM (1968),NLM (2002),NLM (2012)
cui
C0936016,C0268301,C0039585,C2713546
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C564545,http://purl.bioontology.org/ontology/MESH/C538435
tui
T047
Instance relations
Types