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Human Disease

PTEN hamartoma tumor syndrome

Term ID
DOID:0080191
Synonyms
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. (3)
References
  • GARD:12800
Ontology
Human Disease   ( DOID:0080191 )
Relationships
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has subtype
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Genes Involved
Zebrafish Models