ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 2

OBO ID: DOID:0080061

Term Name:	autosomal recessive spinocerebellar ataxia 2		Search Ontology:
Synonyms:	SCAR2
Definition:	An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (2)
References:	OMIM:213200
Ontology:	Human Disease ( DOID:0080061 )

Relationships

is a type of:	autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia Show first 5 Terms

OTHER autosomal recessive spinocerebellar ataxia 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PMPCA	pmpca	Spinocerebellar ataxia, autosomal recessive 2	213200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None