ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 7

OBO ID: DOID:0080059

Term Name:	autosomal recessive spinocerebellar ataxia 7		Search Ontology:
Synonyms:	SCAR7
Definition:	An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (2)
References:	GARD:12232 OMIM:609270
Ontology:	Human Disease ( DOID:0080059 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 7 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TPP1	tpp1	Spinocerebellar ataxia, autosomal recessive 7	609270

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None