autosomal recessive distal hereditary motor neuronopathy 5

Summary

DOID:0111214 - autosomal recessive distal hereditary motor neuronopathy 5

Disease Ontology Definition:An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.

Synonyms: DSMA5, young adult-onset dHMN, autosomal recessive distal spinal muscular atrophy type 5, young adult-onset distal hereditary motor neuropathy, distal spinal muscular atrophy type 5

Echinobase 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

MIM:

MIM:614881 - spinal muscular atrophy, distal, autosomal recessive, 5; dsma5

MIM:614881 - spinal muscular atrophy, distal, autosomal recessive, 5; dsma5

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)