autosomal dominant distal hereditary motor neuronopathy 8

Summary

DOID:0111215 - autosomal dominant distal hereditary motor neuronopathy 8

Disease Ontology Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.

Synonyms: autosomal dominant benign distal spinal muscular atrophy, autosomal dominant congenital benign spinal muscular atrophy, congenital benign spinal muscular atrophy with contractures, congenital nonprogressive spinal muscular atrophy, DHMN8, distal hereditary motor neuronopathy type 8, distal hereditary motor neuropathy type VIII, HMN8

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

: trpv4

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)