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loading...| 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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| has_obo_namespace |
disease_ontology |
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| 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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| textual 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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| subClassOf |
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