Search Ontology:
Human Disease

autosomal dominant distal hereditary motor neuronopathy 8

Term ID
DOID:0111215
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
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. (3)
References
Ontology
Human Disease   ( DOID:0111215 )
Relationships
is a type of
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Genes Involved
Zebrafish Models