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Disease Ontology Browser
obsolete PTEN hamartoma tumor syndrome (DOID:0080191)
Alliance: disease page
Alt IDs: ICD10CM:Q85.81, NCI:C179915, ORDO:306498, UMLS_CUI:C1959582
Definition: A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/07/2025
MGI 6.24
The Jackson Laboratory