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DO Term : myotonic dystrophy type 1 [DOID:11722] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
  • synonyms:
  • Dystrophia myotonica,
  • ICD9CM:359.21,
  • NCI:C84914,
  • congenital myotonic dystrophy,
  • Steinert disease,
  • UMLS_CUI:C0027126,
  • OMIM:160900,
  • myotonic dystrophy of Steinert,
  • SNOMEDCT_US_2023_03_01:1177122009,
  • MESH:D009223,
  • GARD:8310,
  • 160900,
  • ICD10CM:G71.11
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