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Summary Literature (0)
DOID:6457 - Cowden syndrome

Disease Ontology 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.

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

Xenbase Genes : akt1, bmpr1a, pten, sdhb, sec23b, sdhc, pik3ca, sdhd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016063 - Cowden disease

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): PTEN hamartoma tumor syndrome (is_a), autosomal dominant disease (is_a), syndrome (is_a)