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pontocerebellar hypoplasia, type 1C
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
Uniprot Description A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired.
Mondo Term and Equivalent IDs
MONDO:0014485: pontocerebellar hypoplasia, type 1C
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616081
UMLS:C4015160
MONDO:0014485
High level summary of knowledge for a disease, including descriptions and datasource references.