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:
expanddisease by cellular process disrupted (MONDO:0021195)
Parent Node:
expandnutritional or metabolic disease (MONDO:0024297)
..Starting node
..expandmetabolic disease ()

       Child 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) ()



 Sister Nodes: 
..expandmetabolic disease ()
..expandnutritional disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5066
Name:metabolic disease
Definition:A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:disease of metabolism; disorder of metabolic process; disorder of metabolic process; metabolic disease; metabolic disorder; metabolic process disease
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal