spastic ataxia 4

Summary

DOID:0050943 - spastic ataxia 4

Disease Ontology Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.

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

: mtpap

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013354 - spastic ataxia 4

MONDO:0013354 - spastic ataxia 4

MIM:

MIM:613672 - SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4

MIM:613672 - SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4

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)