Nemaline Myopathy 8

Preferred Label : Nemaline Myopathy 8;

NCIt synonyms : NEM8;

NCIt definition : An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.;

Details

Origin ID

C129871;

UMLS CUI

C3809209;

Automatic exact mappings (from CISMeF team)
- kelch like family member 40 [ORDO Gene]
Currated CISMeF NLP mapping
- Nemaline myopathy 8 [OMIM Phenotype]
- nemaline myopathy 8 [DO 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 8 [OMIM Phenotype]
- nemaline myopathy 8 [DO 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
- KLHL40 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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