OBO ID: DOID:0050759
Term Name: myotonic dystrophy type 2 Search Ontology:
Synonyms:
Definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (2)
References:
  • GARD:9728
  • ICD10CM:G71.1
  • ICD9CM:359.2
  • MESH:D020967
  • NCI:C84913
  • OMIM:602668
  • ORDO:606
  • SNOMEDCT_US_2023_03_01:155096007
  • UMLS_CUI:C0553604
Ontology: Human Disease   ( DOID:0050759 )
Relationships
is a type of:
OTHER myotonic dystrophy type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNBP Myotonic dystrophy 2 602668
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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