autosomal dominant distal hereditary motor neuronopathy 5

Summary

DOID:0111203 - autosomal dominant distal hereditary motor neuronopathy 5

Disease Ontology Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.

Synonyms: DHMN5, distal hereditary motor neuronopathy type 5, distal hereditary motor neuronopathy type 5A, distal hereditary motor neuropathy type V, distal HMN V, distal HMN VA, distal spinal muscular atrophy type V, distal spinal muscular atrophy type VA, distal spinal muscular atrophy with upper limb predominance, DSMAV, HMN5

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

: bscl2, gars1

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

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

Parent(s): autosomal dominant distal hereditary motor neuronopathy (is_a)