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Pten Hamartoma Tumor Syndrome

Disease ID: disease_node_20168

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DbxrefGARD:12800
SubclassofDOID_225
Data SourceDOID
Doid LabelPTEN hamartoma tumor syndrome
Doid DescriptionA 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.
Disease Node Iddisease_node_20168
Doid IdDOID_0080191
LabelPten Hamartoma Tumor Syndrome