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autosomal dominant cerebellar ataxia

Disease Summary
Associated Targets (88)
Tbio

59

Tchem

18

Tclin

7

Tdark

4


GARD Rare
Mondo Description Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
Disease Ontology Description A hereditary ataxia that has_material_basis_in autosomal dominant inheritance.
Mondo Term and Equivalent IDs
MONDO:0020380:  autosomal dominant cerebellar ataxia
GARD:0004346: 
OMIMPS:164400: 
Orphanet:99: 
SCTID:129609000: 
UMLS:CN227858: