Search Ontology:
Human Disease

autosomal recessive distal hereditary motor neuronopathy 3

Term ID
DOID:0111211
Synonyms
  • autosomal recessive distal spinal muscular atrophy type 3
  • dHMN3
  • dHMN3 and dHMN4
  • dHMN4
  • distal hereditary motor neuropathy type 3
  • distal hereditary motor neuropathy type 3 and type 4
  • distal hereditary motor neuropathy type 4
  • distal spinal muscular atrophy type 3
  • dSMA3
Definition
An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. https://www.ncbi.nlm.nih.gov/pubmed/15054395
References
Ontology
Human Disease   ( DOID:0111211 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models