Preferred Label : Dystrophia Myotonica 2;
NCIt synonyms : Proximal Myotonic Myopathy; DM2; PROMM;
NCIt related terms : Myotonic Dystrophy 2; Ricker Syndrome;
NCIt definition : A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized
by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.;
Alternative definition : NICHD: An autosomal dominant condition caused by heterozygous tetranucleotide repeat
expansion(s) (CCTG)n in intron 1 of the CNBP gene, encoding cellular nucleic acid-binding
protein. The clinical features of this heterogenous condition may include myotonia,
muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency,
diabetes, frontal balding, and electrocardiographic changes. Myotonic dystrophy 2
is rarer and usually manifests with less severe symptoms than myotonic dystrophy 1.;
Origin ID : C84680;
UMLS CUI : C2931689;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Excludes anatomical site(s)
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
- concept_is_in_subset
- disease_has_finding
- disease_has_normal_tissue_origin
- disease_has_primary_anatomic_site
- disease_mapped_to_gene
- pathogenesis_of_disease_involves_gene
