Preferred Name |
PTEN hamartoma tumor syndrome |
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Synonyms |
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Definitions |
A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. |
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ID |
http://purl.obolibrary.org/obo/DOID_0080191 |
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database_cross_reference |
GARD:12800 |
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definition |
A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. |
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has_obo_namespace |
disease_ontology |
|
id |
DOID:0080191 |
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in_subset | ||
label |
PTEN hamartoma tumor syndrome |
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notation |
DOID:0080191 |
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prefLabel |
PTEN hamartoma tumor syndrome |
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subClassOf |
Create mapping