OBO ID: DOID:0050657
Term Name: Bannayan-Riley-Ruvalcaba syndrome Search Ontology:
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)
OTHER Bannayan-Riley-Ruvalcaba syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTEN Lhermitte-Duclos disease 158350
Cowden syndrome 1 158350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None