autosomal recessive distal hereditary motor neuronopathy 3

Summary

DOID:0111211 - autosomal recessive distal hereditary motor neuronopathy 3

Disease Ontology Definition:An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.

Synonyms: autosomal recessive distal spinal muscular atrophy type 3, dHMN3 and dHMN4, dSMA3, distal hereditary motor neuropathy type 3 and type 4, distal spinal muscular atrophy type 3,

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

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

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

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