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congenital myopathy with myasthenic-like onset

Go to external page http://purl.obolibrary.org/obo/MONDO_0018528

Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. [ Orphanet:424107 ]

Synonyms: congenital myopathy with myasthenic-like onset

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:424107 (MONDO:equivalentTo)
  • MEDGEN:1642781 (MONDO:equivalentTo)
  • GARD:21783 (MONDO:GARD)
  • UMLS:C4706390 (MONDO:equivalentTo)
  • SCTID:763315005 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_424107

http://identifiers.org/snomedct/763315005

http://identifiers.org/medgen/1642781

http://linkedlifedata.com/resource/umls/id/C4706390

id

MONDO:0018528

Term relations

Subclass of: