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pontocerebellar hypoplasia type 2C
Disease Summary
Associated Targets (1)
Tdark
1
Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
Uniprot Description A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.
Disease Ontology Description A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060269
MESH:C567324
OMIM:612390
UMLS:C2676465
MONDO:0012891
High level summary of knowledge for a disease, including descriptions and datasource references.