Terminology Service for NFDI4Health
Bannayan-Riley-Ruvalcaba syndrome
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http://purl.obolibrary.org/obo/DOID_0050657
A 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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Bannayan-Riley-Ruvalcaba syndrome
Synonyms
- Bannayan-Zonana syndrome
- Riley-Smith syndrome
- Ruvalcaba-Myhre-Smith syndrome
Subsets
NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050657
Term relations
Subclass of:
- autosomal dominant disease
- penile disease
- syndrome
- located in some penis
- has material basis in some autosomal dominant inheritance