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DO Term : Bannayan-Riley-Ruvalcaba syndrome [DOID:0050657] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICD10CM:Q87.89,
  • Cowden syndrome 1,
  • GARD:5887,
  • Bannayan-Zonana syndrome,
  • MESH:D006223,
  • 158350,
  • Riley-Smith syndrome,
  • NCI:C3939,
  • Ruvalcaba-Myhre-Smith syndrome,
  • ORDO:109,
  • OMIM:158350
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents