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Human Disease

Bannayan-Riley-Ruvalcaba syndrome

Term ID
DOID:0050657
Synonyms
  • Bannayan-Zonana syndrome
  • Cowden syndrome 1
  • Riley-Smith syndrome
  • Ruvalcaba-Myhre-Smith syndrome
Definition
A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (4)
References
Ontology
Human Disease   ( DOID:0050657 )
Relationships
is a type of
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Genes Involved
Zebrafish Models