autosomal dominant distal hereditary motor neuronopathy 14

Summary

DOID:0111202 - autosomal dominant distal hereditary motor neuronopathy 14

Disease Ontology Definition:An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.

Synonyms: DHMN7B, distal hereditary motor neuronopathy type 7B, distal hereditary motor neuropathy type VIIB, distal spinal muscular atrophy with vocal cord paralysis type 7B, Harper-Young myopathy, HMN7B, HMN VIIB

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

: dctn1

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)