Bardet-Biedl syndrome 1
Information
- Disease name
- Bardet-Biedl syndrome 1
- Disease ID
- DOID:0110123
- Description
- "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20177705]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:1935
- Cross Reference ID (Disease Ontology)
- GARD:820
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.89
- Cross Reference ID (Disease Ontology)
- MESH:C537909
- Cross Reference ID (Disease Ontology)
- MIM:209900
- Exact Synonym (Disease Ontology)
- BBS1