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DO Term : autosomal recessive distal hereditary motor neuronopathy 3 [DOID:0111211] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C1846823,
  • dHMN3 and dHMN4,
  • distal hereditary motor neuropathy type 3,
  • dHMN3,
  • distal hereditary motor neuropathy type 3 and type 4,
  • distal spinal muscular atrophy type 3,
  • SNOMEDCT_US_2023_03_01:770430000,
  • OMIM:607088,
  • MESH:C564626,
  • dHMN4,
  • distal hereditary motor neuropathy type 4,
  • dSMA3,
  • 607088,
  • autosomal recessive distal spinal muscular atrophy type 3,
  • ORDO:139547
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Ontology

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Ontology Term --> Direct parents





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