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 )