MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expanddisease of catalytic activity (MONDO:0044976)
Parent Node:
expandglycogen storage disease (MONDO:0002412)
..Starting node
..expandglycogen storage disease due to glycogen synthase deficiency ()

       Child Nodes:
........expandglycogen storage disease due to hepatic glycogen synthase deficiency ()
........expandglycogen storage disease due to muscle and heart glycogen synthase deficiency ()



 Sister Nodes: 
..expandDanon disease ()
..expandglycogen storage disease due to aldolase A deficiency ()
..expandglycogen storage disease due to GLUT2 deficiency ()
..expandglycogen storage disease due to glycogen branching enzyme deficiency ()
..expandglycogen storage disease due to glycogen synthase deficiency ()
..expandglycogen storage disease due to lactate dehydrogenase deficiency ()
..expandglycogen storage disease due to muscle beta-enolase deficiency ()
..expandglycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
..expandglycogen storage disease due to phosphoglycerate mutase deficiency ()
..expandglycogen storage disease due to phosphorylase kinase deficiency ()
..expandglycogen storage disease I ()
..expandglycogen storage disease II ()
..expandglycogen storage disease III ()
..expandglycogen storage disease V ()
..expandglycogen storage disease VI ()
..expandglycogen storage disease VII ()
..expandglycogen storage disease VIII ()
..expandglycogen storage disease XV ()
..expandlethal congenital glycogen storage disease of heart ()
..expandpolyglucosan body myopathy type 1 ()
..expandpolyglucosan body myopathy type 2 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17693
Name:glycogen storage disease due to glycogen synthase deficiency
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:glycogen storage disease type 0; glycogenosis due to glycogen synthase deficiency; GSD due to glycogen synthase deficiency; GSD0
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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