autosomal recessive spinocerebellar ataxia 17

Summary

DOID:0080064 - autosomal recessive spinocerebellar ataxia 17

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24.

Synonyms: SCAR17

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

: cwf19l1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014503 - proximal phalanx of digit 3

MONDO:0014503 - proximal phalanx of digit 3

MIM:

MIM:616127 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

MIM:616127 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

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)