spastic ataxia 2

Summary

DOID:0050941 - spastic ataxia 2

Disease Ontology Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.

Synonyms:

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

: kif1c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012651 - mucosa of gastroduodenal junction

MONDO:0012651 - mucosa of gastroduodenal junction

MIM:

MIM:611302 - SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2

MIM:611302 - SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2

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

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

Parent(s): autosomal recessive disease (is_a), spastic ataxia (is_a)