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Summary Literature (0)
DOID:0080191 - PTEN hamartoma tumor syndrome

Disease Ontology Definition:A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene.

Synonyms:

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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0017623 - PTEN hamartoma tumor syndrome


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)