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Summary Literature (0)
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 serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.

Synonyms: DHMN8, HMN8, 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, distal hereditary motor neuronopathy type 8, distal hereditary motor neuropathy type VIII,

Xenbase Genes : trpv4



Other Model Organisms: AGR, 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)