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Parkinson disease 22, autosomal dominant
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.
Uniprot Description An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
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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.
DOID:0080504
OMIM:616710
UMLS:C4225238
MONDO:0014742
High level summary of knowledge for a disease, including descriptions and datasource references.