Bannayan-Riley-Ruvalcaba syndrome
Information
- Disease name
- Bannayan-Riley-Ruvalcaba syndrome
- Disease ID
- DOID:0050657
- 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." [url:https\://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome, url:https\://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1488/, url:https\://www.ncbi.nlm.nih.gov/pubmed/31062505]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:6457
- Cross Reference ID (Disease Ontology)
- GARD:5887
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.89
- Cross Reference ID (Disease Ontology)
- MESH:D006223
- Cross Reference ID (Disease Ontology)
- MIM:158350
- Cross Reference ID (Disease Ontology)
- NCI:C3939
- Cross Reference ID (Disease Ontology)
- ORDO:109
- Exact Synonym (Disease Ontology)
- Bannayan-Zonana syndrome
- Exact Synonym (Disease Ontology)
- Cowden syndrome 1
- Exact Synonym (Disease Ontology)
- Riley-Smith syndrome
- Exact Synonym (Disease Ontology)
- Ruvalcaba-Myhre-Smith syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 109