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Human Disease
Joubert syndrome 2
- Term ID
- DOID:0110988
- Synonyms
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- cerebellooculorenal syndrome 2
- CORS2
- JBTS2
- Definition
- A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (2)
- References
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- GARD:10167
- MESH:C536294
- MIM:608091
- Ontology
- Human Disease ( DOID:0110988 )
- is a type of
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Genes Involved
Zebrafish Models