OBO ID: DOID:11722
Term Name: myotonic dystrophy type 1 Search Ontology:
Synonyms:
  • congenital myotonic dystrophy
  • Dystrophia myotonica
  • myotonic dystrophy of Steinert
  • Steinert disease
Definition: 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. (5)
References:
  • GARD:8310
  • ICD10CM:G71.11
  • ICD9CM:359.21
  • MESH:D009223
  • NCI:C84914
  • OMIM:160900
  • SNOMEDCT_US_2023_03_01:1177122009
  • UMLS_CUI:C0027126
Ontology: Human Disease   ( DOID:11722 )
Relationships
is a type of:
OTHER myotonic dystrophy type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DMPK Myotonic dystrophy 1
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (5)
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