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 )
Relationships
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Genes Involved
Zebrafish Models