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DO Term : autosomal recessive distal hereditary motor neuronopathy 5 [DOID:0111214] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • autosomal recessive distal spinal muscular atrophy type 5,
  • ORDO:314485,
  • OMIM:614881,
  • young adult-onset dHMN,
  • young adult-onset distal hereditary motor neuropathy,
  • DSMA5,
  • 614881,
  • distal spinal muscular atrophy type 5
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Ontology

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