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:
expandmuscular dystrophy (MONDO:0020121)
..Starting node
..expandcongenital muscular dystrophy ()

       Child Nodes:
........expandarthrogryposis due to muscular dystrophy ()
........expandautosomal recessive myogenic arthrogryposis multiplex congenita ()
........expandBethlem myopathy ()
........expandcongenital merosin-deficient muscular dystrophy 1A ()
........expandcongenital muscular dystrophy 1B ()
........expandcongenital muscular dystrophy due to integrin alpha-7 deficiency ()
........expandcongenital muscular dystrophy due to LMNA mutation ()
........expandcongenital muscular dystrophy merosin-positive ()
........expandcongenital muscular dystrophy with cataracts and intellectual disability ()
........expandcongenital muscular dystrophy with hyperlaxity ()
........expandcongenital muscular dystrophy-infantile cataract-hypogonadism syndrome ()
........expandcongenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome ()
........expandcongenital myopathy, Paradas type ()
........expandmegaconial type congenital muscular dystrophy ()  LSDB  L: 00415;
........expandmuscular dystrophy, congenital, with rapid progression ()
........expandmuscular dystrophy-dystroglycanopathy ()
........expandrigid spine syndrome ()
........expandUllrich congenital muscular dystrophy ()



 Sister Nodes: 
..expandcongenital muscular dystrophy ()
..expanddistal myopathy ()
..expandFukuda-Miyanomae-Nakata syndrome ()
..expandHauptmann-Thannhauser muscular dystrophy ()
..expandmuscular dystrophy, Barnes type ()
..expandmuscular dystrophy, cardiac type ()
..expandmuscular dystrophy, Hemizygous lethal type ()
..expandmuscular dystrophy, Mabry type ()
..expandmuscular dystrophy, progressive Pectorodorsal ()
..expandprogressive muscular dystrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19950
Name:congenital muscular dystrophy
Definition:and Nesprin-1-related CMD; see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:CMD; congenital MD; MDC
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal