Joubert syndrome 6
Information
- Disease name
- Joubert syndrome 6
- Disease ID
- DOID:0111001
- Description
- "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160906]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050777
- Cross Reference ID (Disease Ontology)
- MESH:C537689
- Cross Reference ID (Disease Ontology)
- MIM:610688
- Exact Synonym (Disease Ontology)
- JBTS6