Nemaline Myopathy 2

Preferred Label : Nemaline Myopathy 2;

NCIt synonyms : NEM2;

NCIt definition : An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.;

Details

Origin ID

C118784;

UMLS CUI

C1850569;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- nebulin [ORDO Gene]
Currated CISMeF NLP mapping
- Nemaline Myopathy 2 [MeSH concept]
- Nemaline myopathy 2 [OMIM Phenotype]
- nemaline myopathy 2 [DO Concept]
- nemaline myopathy 2 [MeSH Supplementary Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline Myopathy 2 [MeSH concept]
- Nemaline myopathy 2 [OMIM Phenotype]
- nemaline myopathy 2 [DO Concept]
- nemaline myopathy 2 [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
- NEB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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