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:
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epilepsy (MONDO:0005027)
Parent Node:
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metabolic disease (MONDO:0005066)
..Starting node
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metabolic disease with epilepsy ()

       Child 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 ()



 Sister Nodes: 
..expandacquired metabolic disease ()
..expandbilirubin metabolism disease ()
..expandcarbohydrate metabolism disease ()
..expandcarotenemia ()
..expandchondrocalcinosis ()
..expandcomplement deficiency ()
..expanddevelopmental anomaly of metabolic origin ()
..expanddiabetic nephropathy ()
..expanddiabetic retinopathy ()
..expanddisorder of acid-base balance ()
..expanddisorder of glycosylation ()
..expanddisorder of organic acid metabolism ()
..expandDNA repair disease ()
..expandfamilial thyroid dyshormonogenesis ()
..expandglucose metabolism disease ()
..expandglutaric aciduria (disease) ()
..expandgout ()
..expandhemolytic anemia due to an erythrocyte nucleotide metabolism disorder ()
..expandhyperlipidemia (disease) ()
..expandhyperlipoproteinemia ()
..expandhypermanganesemia with dystonia ()
..expandhypertriglyceridemia (disease) ()
..expandhypoalphalipoproteinemia ()
..expandinborn errors of metabolism ()
..expandlactic acidosis ()
..expandlipodystrophy (disease) ()
..expandmetabolic disease with epilepsy ()
..expandmetabolic disease with intestinal involvement ()
..expandmetabolic disease with skin involvement ()
..expandmetabolic syndrome ()
..expandmineral metabolism disease ()
..expandporphyrin metabolism disease ()
..expandproteostasis deficiencies ()
..expandpurine metabolism disease ()
..expandpyrimidine metabolism disease ()
..expandsteroid metabolism disease ()
..expandthiopurine metabolic disease ()
..expandvitamin B12 deficiency ()
..expandxanthinuria ()
..expandxanthoma (disease) ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15656
Name:metabolic disease with epilepsy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:metabolic diseases with epilepsy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal