OBO ID: DOID:6457
Term Name: Cowden syndrome Search Ontology:
Synonyms:
  • Cowden disease
  • dysplastic Gangliocytoma of Cerebellum
  • Lhermitte-Duclos disease
  • multiple hamartoma syndrome
Definition: A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. (3)
References:
  • GARD:6202
  • ICDO:9493/0
  • MESH:D006223
  • NCI:C3076
  • NCI:C8419
  • OMIM:PS158350
  • ORDO:201
  • SNOMEDCT_US_2023_03_01:58037000
  • SNOMEDCT_US_2023_03_01:67944007
  • UMLS_CUI:C0018553
  • UMLS_CUI:C0391826
Ontology: Human Disease   ( DOID:6457 )
OTHER Cowden syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None