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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, dysplastic Gangliocytoma of Cerebellum, Lhermitte-Duclos disease, Lhermitte-Duclos disease (disorder), multiple hamartoma syndrome
Xenbase Genes
:
akt1,
bmpr1a,
pten,
sdhb,
sec23b,
sdhc,
pik3ca,
sdhd
| MONDO:0016063 - Cowden disease |
| MIM:158350 - COWDEN SYNDROME 1; CWS1 |
| MIM:612359 - MOVED TO 158350 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee