loading...| Preferred Name |
Androgen-Insensitivity Syndrome |
| Synonyms |
Male Pseudohermaphroditism Due to Androgen Insensitivity |
| Definitions |
A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE. |
| ID |
http://purl.bioontology.org/ontology/MESH/D013734 |
| altLabel |
Male Pseudohermaphroditism Due to Androgen Insensitivity Androgen Resistance Syndromes Insensitivity Syndrome, Androgen Testicular Feminizations AR Deficiency Reifensteins Syndrome Androgen Insensitivity Syndrome, Partial Insensitivity, Partial Androgen Resistance Syndrome, Androgen Androgen-Insensitivity Syndrome, Partial Androgen-Insensitivity Syndromes Androgen Insensitivity Syndromes Deficiency, DHTR Testicular Feminization Syndromes Insensitivities, Partial Androgen Receptor Deficiency, Androgen Reifenstein Syndrome Reifenstein's Syndrome Partial Androgen Insensitivity Resistance Syndromes, Androgen Receptor Deficiencies, Dihydrotestosterone Androgen-Insensitivity Syndromes, Partial Deficiency, Dihydrotestosterone Receptor Androgen Receptor Deficiency Deficiency, AR Insensitivity Syndromes, Androgen Androgen Insensitivities, Partial Dihydrotestosterone Receptor Deficiency Androgen-Insensitivity Syndromes, Complete Deficiencies, Dihydrotestosterone Receptor Partial Androgen Insensitivities Receptor Deficiency, Dihydrotestosterone Deficiencies, Androgen Receptor Testicular Feminization Syndrome AR Deficiencies Androgen Resistance Syndrome Partial Androgen-Insensitivity Syndromes Dihydrotestosterone Receptor Deficiencies Deficiencies, DHTR Feminization Syndromes, Testicular Androgen Receptor Deficiencies Partial Androgen-Insensitivity Syndrome DHTR Deficiency Androgen Insensitivity Syndrome, Complete Deficiency, Androgen Receptor Androgen-Insensitivity Syndrome, Complete Feminization, Testicular Feminization Syndrome, Testicular Receptor Deficiencies, Androgen Feminizations, Testicular Androgen Insensitivity, Partial Testicular Feminization Deficiencies, AR Complete Androgen-Insensitivity Syndromes DHTR Deficiencies Complete Androgen-Insensitivity Syndrome Androgen Insensitivity Syndrome |
| 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 |
| cui |
C0268301 C0039585 C0936016 C2713546 |
| DC |
1 |
| definition |
A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE. A 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. |
| DX |
19700101 |
| HN |
2002(1968) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D056889 http://purl.bioontology.org/ontology/MESH/D020389 http://purl.bioontology.org/ontology/MESH/D006061 http://purl.bioontology.org/ontology/MESH/D014923 http://purl.bioontology.org/ontology/MESH/D005489 http://purl.bioontology.org/ontology/MESH/D016114 http://purl.bioontology.org/ontology/MESH/D038901 http://purl.bioontology.org/ontology/MESH/D020371 http://purl.bioontology.org/ontology/MESH/D009800 http://purl.bioontology.org/ontology/MESH/D053307 http://purl.bioontology.org/ontology/MESH/D030321 http://purl.bioontology.org/ontology/MESH/D015794 http://purl.bioontology.org/ontology/MESH/D020388 http://purl.bioontology.org/ontology/MESH/D057973 http://purl.bioontology.org/ontology/MESH/D000795 http://purl.bioontology.org/ontology/MESH/D058540 http://purl.bioontology.org/ontology/MESH/D052159 http://purl.bioontology.org/ontology/MESH/D056830 http://purl.bioontology.org/ontology/MESH/D020163 http://purl.bioontology.org/ontology/MESH/D006105 http://purl.bioontology.org/ontology/MESH/D019871 http://purl.bioontology.org/ontology/MESH/D053632 http://purl.bioontology.org/ontology/MESH/D017436 http://purl.bioontology.org/ontology/MESH/D017624 http://purl.bioontology.org/ontology/MESH/D006015 http://purl.bioontology.org/ontology/MESH/D055534 http://purl.bioontology.org/ontology/MESH/D052120 |
| Machine permutation |
2002; see TESTICULAR FEMINIZATION (1970-2001) |
| Mapped from | |
| MDA |
19990101 |
| MMR |
20130708 |
| MN |
C13.351.875.253.096.500 C12.706.316.096.500 C19.391.119.096.500 C16.131.939.316.096.500 C16.320.322.061 |
| notation |
D013734 |
| prefLabel |
Androgen-Insensitivity Syndrome |
| TERMUI |
T426481 T424068 T839576 T781892 T811924 T040334 T750927 T750926 T424067 T781893 T811923 T040333 T426480 T839575 T812205 |
| TH |
NLM (1998) NLM (2002) NLM (2010) NLM (1968) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |