loading...| Preferred Name | ANDROGEN INSENSITIVITY, PARTIAL | |
| Synonyms |
PAIS FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1 ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER REIFENSTEIN SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/312300 |
|
| altLabel |
PAIS FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1 ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER REIFENSTEIN SYNDROME |
|
| cui |
C2931847 C0268301 |
|
| Gene Locus |
Xq11-q12 |
|
| Gene Symbol |
SBMA DHTR TFM SMAX1 HYSP1 AR KD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU006962 http://purl.bioontology.org/ontology/OMIM/MTHU006964 http://purl.bioontology.org/ontology/OMIM/MTHU006963 http://purl.bioontology.org/ontology/OMIM/MTHU006960 http://purl.bioontology.org/ontology/OMIM/MTHU006959 http://purl.bioontology.org/ontology/OMIM/MTHU006961 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU006966 http://purl.bioontology.org/ontology/OMIM/MTHU003772 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
307300 312100 308370 306500 |
|
| notation |
312300 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ANDROGEN INSENSITIVITY, PARTIAL |
|
| Scope Statement |
Infertility [MISCELLANEOUS] Caused by mutation in the androgen receptor gene (AR, 313700.0008) [MOLECULAR BASIS] |
|
| tui |
T047 |