FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Joubert syndrome 9 ID (Ontology) DOID:0111004 (Human Disease)
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
Also Known As "JBTS9"
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DO.org
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 Genes
 Joubert syndrome 9       1
 for disease ribbon | Joubert syndrome 9       1
 model of | Joubert syndrome 9       1
Spanning Tree (Parents/Children)
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ciliopathy
 |__Joubert syndrome__
polygenic disease     |
 |__digenic disease___|
brain disease         |
 |__Joubert syndrome__|
                      Joubert syndrome 9  1 rec.
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Is a Joubert syndrome
digenic disease
Part of
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Synonyms
  • "JBTS9" EXACT OMO:0003012
Secondary IDs
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MESH:C567364
MIM:612285