Joubert syndrome 39 Disease Ontology Browser

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Disease Ontology Browser

Joubert syndrome 39 (DOID:0061342)
Alliance: disease page
Synonyms: JBTS39
Alt IDs: OMIM:619562, ORDO:475
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24.2.

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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