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 |
|
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 | GEXO | SAME_URI | |
http://identifiers.org/omim/312300 | RETO | SAME_URI | |
http://identifiers.org/omim/312300 | GEXO | 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 |