OBO ID: DOID:0111214
Term Name: autosomal recessive distal hereditary motor neuronopathy 5 Search Ontology:
Synonyms:
  • autosomal recessive distal spinal muscular atrophy type 5
  • distal spinal muscular atrophy type 5
  • DSMA5
  • young adult-onset dHMN
  • young adult-onset distal hereditary motor neuropathy
Definition: An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (2)
References:
Ontology: Human Disease   ( DOID:0111214 )
Relationships
is a type of:
OTHER autosomal recessive distal hereditary motor neuronopathy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAJB2 Neuronopathy, distal hereditary motor, autosomal recessive 5 614881
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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