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Metadata
ID DOID:0080278
PURL http://purl.obolibrary.org/obo/DOID_0080278 Copy
Name Joubert syndrome 32
Definition A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.
https://pubmed.ncbi.nlm.nih.gov/28965847/
Xrefs

MIM:617757

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is_a Joubert syndrome

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