Search Ontology:
Human Disease
Joubert syndrome 8
- Term ID
- DOID:0111003
- Synonyms
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- JBTS8
- Definition
- A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. https://www.ncbi.nlm.nih.gov/pubmed/18674751
- References
- Ontology
- Human Disease ( DOID:0111003 )
- is a type of
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