OBO ID: DOID:0111612
Term Name: autosomal recessive spinocerebellar ataxia 3 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111612 )
OTHER autosomal recessive spinocerebellar ataxia 3 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None