Search Ontology:
Human Disease
Joubert syndrome 18
- Term ID
- DOID:0110987
- Synonyms
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- JBTS18
- Definition
- A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/22883145
- References
- Ontology
- Human Disease ( DOID:0110987 )
- is a type of
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