Search Ontology:
Human Disease
Joubert syndrome 6
- Term ID
- DOID:0111001
- Synonyms
-
- JBTS6
- Definition
- A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/17160906
- References
- Ontology
- Human Disease ( DOID:0111001 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models