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Metadata
ID DOID:0111004
Name Joubert syndrome 9
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
https://www.ncbi.nlm.nih.gov/pubmed/18387594
Xrefs

MESH:C567364

OMIM:612285

Synonyms

JBTS9 [EXACT]

Parent Relationships

is_a Joubert syndrome

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