FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

PTEN hamartoma tumor syndrome

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0080191

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

PTEN hamartoma tumor syndrome

prefixIRI

DOID:0080191

prefLabel

PTEN hamartoma tumor syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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