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loading...| Preferred Name | Androgen insensitivity, partial | |
| Synonyms |
PAIS |
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| Definitions |
(PAIS) - A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations. |
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| ID |
http://identifiers.org/omim/312300 |
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| altLabel |
PAIS |
|
| definition |
(PAIS) - A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations. |
|
| id |
OMIM:312300 |
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| notation |
OMIM:312300 |
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| prefLabel |
Androgen insensitivity, partial |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/312300 | REXO | SAME_URI | |
| http://identifiers.org/omim/312300 | RETO | SAME_URI | |
| http://identifiers.org/omim/312300 | REXO | LOOM | |
| http://identifiers.org/omim/312300 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/312300 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_312300 | CCO | LOOM |