Search Ontology:
Human Disease

autosomal recessive spinocerebellar ataxia 3

Term ID
DOID:0111612
Synonyms
  • autosomal recessive spinocerebellar ataxia type 3
  • autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
  • autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
  • SCABD
  • SCAR3
Definition
An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. (3)
References
  • GARD:9971
  • MESH:C537309
  • MIM:271250
  • ORDO:95433
  • SNOMEDCT_US_2023_03_01:1204415006
  • UMLS_CUI:C1849094
Ontology
Human Disease   ( DOID:0111612 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations