MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandnon-dystrophic myopathy (MONDO:0016110)
..Starting node
..expandcongenital myopathy ()

       Child Nodes:
........expandbenign Samaritan congenital myopathy ()
........expandcap myopathy ()
........expandcentronuclear myopathy ()
........expandCompton-North congenital myopathy ()
........expandcongenital fiber-type disproportion ()
........expandcongenital myopathy with cores ()
........expandcongenital myopathy with excess of thin filaments ()
........expandcongenital myopathy with myasthenic-like onset ()
........expandcongenital nemaline myopathy ()
........expandcylindrical spirals myopathy ()
........expandearly-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ()
........expandfetal akinesia-cerebral and retinal hemorrhage syndrome ()
........expandfingerprint body myopathy ()
........expandhyaline body myopathy ()
........expandintellectual disability-myopathy-short stature-endocrine defect syndrome ()
........expandKing-Denborough syndrome ()
........expandKlippel-Feil anomaly-myopathy-facial dysmorphism syndrome ()
........expandmyopathy with hexagonally cross-linked tubular arrays ()
........expandmyotonia congenita ()
........expandNative American myopathy ()
........expandreducing body myopathy ()
........expandsevere hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ()
........expandtubular aggregate myopathy ()
........expandzebra body myopathy ()



 Sister Nodes: 
..expandBrody myopathy ()
..expandcongenital generalized lipodystrophy type 4 ()
..expandcongenital myopathy ()
..expandearly-onset myopathy with fatal cardiomyopathy ()
..expandhereditary continuous muscle fiber activity ()
..expandinclusion myopathy ()
..expandmetabolic myopathy ()
..expandmyofibrillar myopathy (disease) ()
..expandnemaline myopathy ()
..expandnon-dystrophic myopathy with collagen 6 anomaly ()
..expandproximal myopathy with extrapyramidal signs ()
..expandproximal myopathy with focal depletion of mitochondria ()  LSDB  L: 00412;
..expandrippling muscle disease ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19952
Name:congenital myopathy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:batten Turner congenital myopathy; myopathy congenital
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal