Cowden syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016063 - Cowden disease

MONDO:0016063 - Cowden disease

Other Model Organisms: AGR, 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)