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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inborn errors of metabolism
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Accession:EFO:MONDO:0019052 term browser browse the term
Definition:An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
Synonyms:exact_synonym: congenital metabolic disorder;   congenital metabolism disorder;   hereditary metabolic disease;   inborn disorders of metabolism;   inborn error of metabolism;   inborn errors of metabolism" [DOID:655, icd11.foundation:733825440, NCIT:C34816] {OMO:0002001="https://w3id.org/information-resource-registry/clingen;   inborn metabolic disorder;   inborn metabolism disorder;   inherited disorder of metabolism;   inherited disorders of metabolism;   inherited metabolic disorder;   metabolic hereditary disorder
 narrow_synonym: rare inborn errors of metabolism;   rare inherited metabolic disorder
 related_synonym: rare metabolic disease
 alt_id: MONDO:0019052
 xref: DOID:655;   GARD:22508;   MEDGEN:6323;   MESH:D008661;   MedDRA:10058097;   MedDRA:10062018;   NANDO:2100159;   NCI:C34816;   ORDO:68367;   SCTID:86095007;   UMLS:C0025521;   icd11.foundation:733825440


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            inborn errors of metabolism 0
              2-hydroxyglutaric aciduria + 0
              ASAH1-related disorders + 0
              CFTR-related metabolic syndrome 0
              DNA repair deficiency + 0
              Ehlers-Danlos syndrome, spondylodysplastic type + 0
              NAD(P)HX dehydratase deficiency 0
              Waldenstrom macroglobulinemia + 0
              abdominal obesity-metabolic syndrome + 0
              achondrogenesis type IB 0
              apolipoprotein c-III deficiency 0
              aromatase excess syndrome 0
              atelosteogenesis type II 0
              autosomal dominant dopa-responsive dystonia + 0
              autosomal dominant myoglobinuria 0
              autosomal dominant proximal renal tubular acidosis 0
              autosomal recessive proximal renal tubular acidosis 0
              chondrocalcinosis 2 0
              chondrodysplasia with joint dislocations, gPAPP type 0
              congenital disorder of deglycosylation + 0
              congenital disorder of glycosylation + 0
              congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0
              diastrophic dysplasia 0
              disorder of lysosomal-related organelles + 0
              disorder of metabolite absorption and transport + 0
              disorder of peptide and amine metabolism + 0
              familial hypocalciuric hypercalcemia + 0
              familial hypoparathyroidism + 0
              familial intrahepatic cholestasis + 0
              ferro-cerebro-cutaneous syndrome 0
              fish eye disease 0
              gluthathione peroxidase deficiency 0
              glycoprotein metabolism disease + 0
              hemolytic anemia due to diphosphoglycerate mutase deficiency 0
              hereditary amyloidosis + 0
              hereditary lipodystrophy + 0
              hereditary recurrent myoglobinuria + 0
              hypercalcemia, infantile + 0
              hypermanganesemia with dystonia + 0
              hypertriglyceridemia 2 0
              hypoalphalipoproteinemia, primary, 1 0
              hypophosphatasia + 0
              hypotonia-failure to thrive-microcephaly syndrome 0
              inborn aminoacylase deficiency + 0
              inborn carbohydrate metabolic disorder + 0
              inborn disorder of amino acid and other organic acid metabolism + 0
              inborn disorder of biogenic amine metabolism and transport + 0
              inborn disorder of energy metabolism + 0
              inborn disorder of porphyrin metabolism + 0
              inborn disorder of purine or pyrimidine metabolism + 0
              inborn glycerol kinase deficiency + 0
              inborn metal metabolism disorder + 0
              inherited lipid metabolism disorder + 0
              inherited thyroid metabolism disease + 0
              lysosomal storage disease + 0
              monogenic diabetes + 0
              mucopolysaccharidosis or mucopolysaccharidosis-like disorder + 0
              multiple epiphyseal dysplasia type 4 0
              neurodegeneration with brain iron accumulation + 0
              normophosphatemic familial tumoral calcinosis 0
              peroxisomal disease + 0
              plasma protein metabolism disease + 0
              renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 0
              spondyloepimetaphyseal dysplasia, PAPSS2 type 0
              spondyloepiphyseal dysplasia with congenital joint dislocations 0
              sulfation-related bone disorder 0
              sulfide quinone oxidoreductase deficiency 0
              synucleinopathy + 0
              thiopurine metabolic disease + 0
              tumoral calcinosis, hyperphosphatemic, familial, 2 0
              tumoral calcinosis, hyperphosphatemic, familial, 3 0
              uridine-cytidineuria 0
              vitamin metabolic disorder + 0
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