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Metadata
ID DOID:0110980
Name Joubert syndrome 1
Definition A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
https://www.ncbi.nlm.nih.gov/pubmed/19668216
Xrefs

MIM:213300

Synonyms

cerebellooculorenal syndrome 1 [EXACT]

cerebelloparenchymal disorder IV [EXACT]

CORS1 [EXACT]

CPD4 [EXACT]

JBTS1 [EXACT]

Parent Relationships

is_a Joubert syndrome

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