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:
expandmetabolic disease (MONDO:0005066)
..Starting node
..expandinborn errors of metabolism ()

       Child Nodes:
........expandabdominal obesity-metabolic syndrome 3 ()
........expandalcohol sensitivity, acute ()  LSDB  L: 00081;
........expandAlstrom syndrome ()
........expandapolipoprotein c-III deficiency ()
........expandAREDYLD syndrome ()
........expandaromatase excess syndrome ()
........expandautosomal dominant hypocalcemia ()
........expandautosomal recessive infantile hypercalcemia ()
........expandBloom syndrome ()
........expandCockayne syndrome ()
........expanddiabetes mellitus, noninsulin-dependent, 1 ()
........expanddiabetes mellitus, noninsulin-dependent, 3 ()
........expanddiabetes mellitus, noninsulin-dependent, 4 ()
........expanddiabetes mellitus, noninsulin-dependent, 5 ()
........expanddiabetic ketoacidosis ()
........expanddisorder of lysosomal-related organelles ()
........expanddisorder of metabolite absorption and transport ()
........expandDonohue syndrome ()
........expandfamilial calcium pyrophosphate deposition ()
........expandfamilial hyperinsulinism ()
........expandfamilial hypocalciuric hypercalcemia ()
........expandfamilial intrahepatic cholestasis ()
........expandfamilial tumoral calcinosis ()
........expandferro-cerebro-cutaneous syndrome ()
........expandgluthathione peroxidase deficiency ()
........expandH syndrome ()
........expandhereditary amyloidosis ()
........expandhereditary chronic pancreatitis ()
........expandhereditary thrombophilia due to congenital protein C deficiency ()
........expandhypophosphatasia ()
........expandimmunodeficiency-centromeric instability-facial anomalies syndrome ()
........expandimmunoglobulin-mediated membranoproliferative glomerulonephritis ()
........expandinborn disorder of amino acid and other organic acid metabolism ()
........expandinborn disorder of porphyrin metabolism ()
........expandinborn metal metabolism disorder ()
........expandinborn vitamin metabolic disorder ()
........expandinherited lipid metabolism disorder ()
........expandinsulin-resistance syndrome type A ()
........expandjuvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ()
........expandlysosomal storage disease ()
........expandmannose-binding lectin deficiency ()
........expandmetabolic syndrome X ()
........expandmicrocephalic primordial dwarfism-insulin resistance syndrome ()
........expandneonatal diabetes mellitus with congenital hypothyroidism ()
........expandNIDDM2 ()
........expandNijmegen breakage syndrome ()
........expandNijmegen breakage syndrome-like disorder ()
........expandnucleoside diphosphate-linked moiety X Motif 15 deficiency ()
........expandpermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ()
........expandperoxisomal disease ()
........expandphotosensitive trichothiodystrophy ()
........expandplasma protein metabolism disease ()
........expandpolyendocrine-polyneuropathy syndrome ()
........expandpolysyndactyly ()
........expandprimary microcephaly-epilepsy-permanent neonatal diabetes syndrome ()
........expandprimary microcephaly-mild intellectual disability-young-onset diabetes syndrome ()
........expandproximal renal tubular acidosis ()
........expandRabson-Mendenhall syndrome ()
........expandrecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ()
........expandrenal tubular acidosis 3 ()
........expandrenal tubular acidosis, distal, autosomal recessive ()
........expandsevere combined immunodeficiency due to DCLRE1C deficiency ()
........expandthiopurine S-methyltransferase deficiency ()
........expandUV-sensitive syndrome ()
........expandWaldenstrom macroglobulinemia ()
........expandWolcott-Rallison syndrome ()



 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:19052
Name:inborn errors of metabolism
Definition:A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1
Alternative IDs:
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Synonyms:congenital metabolic disorder; congenital metabolism disorder; hereditary metabolic disease; inborn error of metabolism; inborn errors of metabolism; inborn metabolism disorder; inherited metabolic disorder; metabolic hereditary disorder; rare inborn errors of metabolism; rare inherited metabolic di
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal