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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]

Synonyms: Dystrophia myotonica congenital myotonic dystrophy Steinert disease myotonic dystrophy of Steinert

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535686 (exactMatch)
  • UMLS_CUI:C0027126
  • ICD9CM:359.21
  • ICD10CM:G71.11
  • OMIM:160900
  • NCI:C84914
  • SNOMEDCT_US_2019_09_01:77956009
  • GARD:8310

DO_FlyBase_slim, NCIthesaurus


OMIM mapping confirmed by DO. [SN].

has obo namespace




Term relations

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