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Metadata
ID DOID:11722
Name myotonic dystrophy type 1
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.
http://en.wikipedia.org/wiki/Myotonic_dystrophy, http://ghr.nlm.nih.gov/condition/myotonic-dystrophy, http://omim.org/entry/160900, http://www.genome.gov/25521207, http://www.ncbi.nlm.nih.gov/books/NBK1165/
Xrefs

GARD:8310

ICD10CM:G71.11

ICD9CM:359.21

MESH:C535686

NCI:C84914

OMIM:160900

SNOMEDCT_US_2019_09_01:77956009

UMLS_CUI:C0027126

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

congenital myotonic dystrophy [EXACT]

Dystrophia myotonica [EXACT]

myotonic dystrophy of Steinert [EXACT]

Steinert disease [EXACT]

Parent Relationships

is_a myotonic disease

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