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Metadata
ID DOID:0080277
PURL http://purl.obolibrary.org/obo/DOID_0080277 Copy
Name Joubert syndrome 31
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.
https://pubmed.ncbi.nlm.nih.gov/27208211/
Xrefs

MIM:617761

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is_a Joubert syndrome

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