Search Ontology:
Human Disease

spastic ataxia 3

Term ID
DOID:0050942
Synonyms
Definition
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. https://www.ncbi.nlm.nih.gov/pubmed/22448145
References
Ontology
Human Disease   ( DOID:0050942 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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