autosomal recessive spinocerebellar ataxia 7

Summary

DOID:0080059 - autosomal recessive spinocerebellar ataxia 7

Disease Ontology 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.

Synonyms: SCAR7

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tpp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012235 - autosomal recessive spinocerebellar ataxia 7

MONDO:0012235 - autosomal recessive spinocerebellar ataxia 7

MIM:

MIM:609270 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7

MIM:609270 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)