Joubert syndrome 28 Disease Ontology Browser

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Disease Ontology Browser

Joubert syndrome 28 (DOID:0110997)
Alliance: disease page
Synonyms: JBTS28
Alt IDs: OMIM:617121
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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