Cowden syndrome

Term ID

DOID:6457

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. (2)

References

• GARD:6202
• ICDO:9493/0
• MESH:D006223
• MIM:PS158350
• NCI:C3076
• NCI:C8419
• 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 )