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Joubert syndrome 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Uniprot Description A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
Disease Ontology Description A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111000
MESH:C537688
OMIM:610188
UMLS:C1857780
MONDO:0012432
High level summary of knowledge for a disease, including descriptions and datasource references.