MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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Parent Node:
expandcongenital disorder of glycosylation with neurological involvement (MONDO:0018284)
Parent Node:
expandmetabolic disease with epilepsy (MONDO:0015656)
..Starting node
..expandcongenital disorder of glycosylation with epilepsy as a major feature ()

       Child Nodes:
........expandALG1-CDG ()
........expandALG11-CDG ()
........expandALG13-CDG ()
........expandALG2-CDG ()
........expandALG3-CDG ()
........expandALG9-CDG ()
........expandautism spectrum disorder - epilepsy - arthrogryposis syndrome ()
........expandautosomal recessive cutis laxa type 2A ()
........expandCAD-CDG ()
........expandCHIME syndrome ()
........expandCOG4-CDG ()
........expandCOG7-CDG ()
........expandCOG8-CDG ()
........expandcongenital disorder of glycosylation type 1C ()
........expandcongenital disorder of glycosylation type 1E ()
........expandcongenital muscular dystrophy with intellectual disability and severe epilepsy ()
........expandDPAGT1-CDG ()
........expandGM3 synthase deficiency ()
........expandhypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ()
........expandintellectual disability, autosomal recessive 53 ()
........expandleukocyte adhesion deficiency type II ()
........expandMOGS-CDG ()
........expandMPDU1-CDG ()
........expandmultiple congenital anomalies-hypotonia-seizures syndrome 1 ()
........expandmultiple congenital anomalies-hypotonia-seizures syndrome 2 ()
........expandmuscle-eye-brain disease ()
........expandPMM2-CDG ()
........expandprogressive myoclonic epilepsy type 3 ()
........expandRFT1-CDG ()
........expandseizures-scoliosis-macrocephaly syndrome ()
........expandSLC35A1-CDG ()
........expandSLC35A2-CDG ()
........expandSSR4-CDG ()
........expandSTT3A-CDG ()
........expandSTT3B-CDG ()
........expandWalker-Warburg syndrome ()



 Sister Nodes: 
..expandamino acid or protein metabolism disease with epilepsy ()
..expandcongenital disorder of glycosylation with epilepsy as a major feature ()
..expandenergy metabolism disorder with epilepsy ()
..expandlysosomal disease with epilepsy ()
..expandmetabolic neurotransmission anomaly with epilepsy ()
..expandmetal transport or utilization disorder with epilepsy ()
..expandother metabolic disease with epilepsy ()
..expandperoxisomal disease with epilepsy ()
..expandsterol metabolism disorder with epilepsy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18287
Name:congenital disorder of glycosylation with epilepsy as a major feature
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:CDG with epilepsy as a major feature
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal