spinocerebellar ataxia type 34

Summary

DOID:0050981 - spinocerebellar ataxia type 34

Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.

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

: elovl4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007574 - spinocerebellar ataxia type 34

MONDO:0007574 - spinocerebellar ataxia type 34

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

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

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