Search Ontology:
Human Disease
obsolete PTEN hamartoma tumor syndrome
- Term ID
- DOID:0080191
- Synonyms
-
- PHTS
- 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. (4)
- References
-
- GARD:12800
- ICD10CM:Q85.81
- NCI:C179915
- ORDO:306498
- SNOMEDCT_US_2025_05_01:722859001
- UMLS_CUI:C1959582
- Obsolete
- true
- Secondary ID:
- Merged into
- Cowden syndrome 1
- Ontology
- ( DOID:0080191 )
Other Pages
Genes Involved
Zebrafish Models