Summary Literature (0)

DOID:6457 - Cowden disease

Disease Ontology Definition:An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.

Synonyms: Lhermitte-Duclos disease (disorder), dysplastic Gangliocytoma of Cerebellum, multiple hamartoma syndrome,

Echinobase Genes :


OMIM:

MIM:158350 - cowden syndrome 1; cws1

MIM:612359 - cowden syndrome 2; cws2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee