autosomal dominant distal hereditary motor neuronopathy

Summary

DOID:0111198 - autosomal dominant distal hereditary motor neuronopathy

Disease Ontology Definition:A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.

Synonyms: autosomal dominant dHMN, autosomal dominant distal hereditary motor neuropathy, autosomal dominant distal spinal muscular atrophy

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

: hspb1, reep1, hspb8, wars1, bscl2, slc5a7, gars1, fbxo38, hspb3, trpv4, dctn1

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

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

Parent(s): autosomal dominant disease (is_a), spinal muscular atrophy (is_a)