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Metadata
ID DOID:0111003
Name Joubert syndrome 8
Definition A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.
https://www.ncbi.nlm.nih.gov/pubmed/18674751
Xrefs

MESH:C567358

OMIM:612291

Synonyms

JBTS8 [EXACT]

Parent Relationships

is_a Joubert syndrome

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