Preferred Name | Androgen insensitivity, partial | |
Synonyms |
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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://purl.obolibrary.org/obo/OMIM_312300 |
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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. |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:312300 |
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label |
Androgen insensitivity, partial |
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notation |
OMIM:312300 |
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prefLabel |
Androgen insensitivity, partial |
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treeView | ||
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
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http://identifiers.org/omim/312300 | REXO | LOOM | |
http://identifiers.org/omim/312300 | GEXO | LOOM | |
http://identifiers.org/omim/312300 | RETO | LOOM | |
http://purl.bioontology.org/ontology/OMIM/312300 | OMIM | LOOM |