Search Ontology:
Human Disease
Bannayan-Riley-Ruvalcaba syndrome
- Term ID
- DOID:0050657
- Synonyms
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- 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
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- GARD:5887
- ICD10CM:Q87.89
- MESH:D006223
- MIM:158350
- NCI:C3939
- ORDO:109
- Ontology
- Human Disease ( DOID:0050657 )
- is a type of
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Genes Involved
Zebrafish Models