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DO Term : autosomal dominant distal hereditary motor neuronopathy [DOID:0111198] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
  • synonyms:
  • autosomal dominant distal spinal muscular atrophy,
  • PS182960,
  • OMIM:PS182960,
  • autosomal dominant distal hereditary motor neuropathy,
  • autosomal dominant dHMN,
  • ORDO:140465
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Ontology

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