Search Ontology:
Human Disease

myotonic dystrophy type 2

Term ID
DOID:0050759
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
  • MIM:602668
  • NCI:C84913
  • ORDO:606
  • SNOMEDCT_US_2023_03_01:155096007
  • UMLS_CUI:C0553604
Ontology
Human Disease   ( DOID:0050759 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models