FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Joubert syndrome 2 ID (Ontology) DOID:0110988 (Human Disease)
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.
Also Known As "cerebellooculorenal syndrome 2" ; "CORS2" ; "JBTS2"
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 Genes
 Joubert syndrome 2       2
 for disease ribbon | Joubert syndrome 2       2
 model of | Joubert syndrome 2       2
Spanning Tree (Parents/Children)
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ciliopathy_____
brain disease__|
               Joubert syndrome
                |__Joubert syndrome 2  2 rec.
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Synonyms
  • "cerebellooculorenal syndrome 2" EXACT
    "CORS2" EXACT OMO:0003012
    "JBTS2" EXACT OMO:0003012
Secondary IDs
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GARD:10167
MESH:C536294
MIM:608091