JSON

cap myopathy

^ http://purl.obolibrary.org/obo/MONDO_0015753

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. [ Orphanet:171881 ]

Term info

database cross reference
  • UMLS:C3710589 (Orphanet:171881)
  • Orphanet:171881 (MONDO:equivalentTo)
  • MESH:C579969 (MONDO:equivalentTo)
  • GARD:0011915 (MONDO:equivalentTo)
  • SCTID:703532002 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3710589, http://identifiers.org/snomedct/703532002, http://identifiers.org/mesh/C579969, http://purl.obolibrary.org/obo/Orphanet_171881

has exact synonym

Cap disease

has related synonym

congenital myopathy with caps

id

MONDO:0015753

seeAlso

https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy

Term relations