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Summary Literature (0)
DOID:6457 - Cowden syndrome


Disease Ontology Definition:A syndrome 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

In OMIM:
OMIM:158350 - COWDEN SYNDROME 1; CWS1
OMIM:612359 - MOVED TO 158350

In Mondo Disease Ontology:
MONDO:0016063 - Cowden disease

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)