Nemaline Myopathy 4

Preferred Label : Nemaline Myopathy 4;

NCIt synonyms : NEM4;

NCIt definition : An autosomal dominant myopathy caused by mutation(s) in the TPM2 gene, encoding tropomyosin beta chain. Classification of nemaline myopathies by clinical features is not optimal, as the phenotypes are highly variable.;

Details

Origin ID

C164225;

UMLS CUI

C1836447;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- Nemaline myopathy 4 [OMIM Phenotype]
- Nemaline myopathy 4 [MeSH concept]
- nemaline myopathy 4 [DO Concept]
- nemaline myopathy 4 [MeSH Supplementary Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- tropomyosin 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline myopathy 4 [OMIM Phenotype]
- Nemaline myopathy 4 [MeSH concept]
- nemaline myopathy 4 [DO Concept]
- nemaline myopathy 4 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- TPM2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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