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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:metabolic disease
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Accession:EFO:0000589 term browser browse the term
Definition:A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.
Synonyms:exact_synonym: DIS METAB;   DOID:0014667;   Disorder of metabolism NOS;   Disorder of metabolism NOS (disorder);   Generalised metabolic disorder;   Generalized metabolic disorder;   Generalized metabolic disorder (disorder);   MD - Metabolic disorders;   METABOLISM DISORDER NOS;   Metabolic Diseases;   Metabolic Disorder;   Metabolic disease (disorder);   Metabolic disease, NOS;   Metabolic disorder, NOS;   Metabolic disorders;   NCIT:C3235;   Thesaurismoses;   Thesaurismosis;   Unspecified disorder of metabolism;   disorder of metabolic process;   http://identifiers.org/medgen/44376;   http://identifiers.org/mesh/D008659;   http://identifiers.org/snomedct/75934005;   http://linkedlifedata.com/resource/umls/id/C0025517;   http://purl.bioontology.org/ontology/ICD10CM/E70-E88;   https://icd.who.int/browse10/2019/en#/E70-E90;   metabolic process disease;   metabolism disorder
 related_synonym: disease of metabolism
 xref: DOID:0014667;   HP:0001939;   ICD10CM:E70-E88;   ICD10WHO:E70-E90;   ICD9:277.8;   ICD9:277.9;   MEDGEN:44376;   MESH:D008659;   MONDO:0005066;   NANDO:1100002;   NCI:C3235;   SCTID:75934005;   SNOMEDCT:75934005;   UMLS:C0025517
 external_ontology: in_taxon EFO:NCBITaxon:9606



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            ALG13-CDG 0
            Autism spectrum disorder-epilepsy-arthrogryposis syndrome 0
            Autosomal dominant primary hypomagnesemia with hypocalciuria 0
            Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 0
            CHST3-related skeletal dysplasia 0
            Chédiak-Higashi syndrome 0
            Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 0
            Congenital atransferrinemia 0
            Congenital dyserythropoietic anemia type II 0
            Congenital muscular dystrophy, Fukuyama type 0
            DPM1-CDG 0
            Disorder of amino acid and other organic acid metabolism + 0
            Disorder of biogenic amine metabolism and transport + 0
            Disorder of carbohydrate metabolism + 0
            Disorder of energy metabolism + 0
            Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + 0
            Disorder of lipid metabolism + 0
            Disorder of porphyrin and haem metabolism + 0
            Disorder of purine or pyrimidine metabolism + 0
            Disorder of vitamin and non-protein cofactor absorption and transport  + 0
            Distal myopathy, Nonaka type 0
            Ehlers-Danlos syndrome, progeroid type 0
            FTH1-related iron overload 0
            Hypertriglyceridemia + 0
            Lysosomal disease + 0
            Other metabolic disease + 0
            Papillon-Lefèvre syndrome 0
            Peroxisomal beta-oxidation disorder + 0
            Peroxisome biogenesis disorder-Zellweger syndrome spectrum + 0
            Primary hypomagnesemia with secondary hypocalcemia 0
            Rare hereditary hemochromatosis 0
            Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 0
            Refsum disease 0
            Tumor Lysis Syndrome 0
            acquired metabolic disease + 0
            amino acid metabolism disease + 0
            amino-acid transport disorder 0
            bilirubin metabolism disease + 0
            carbohydrate metabolism disease + 0
            chondrocalcinosis + 0
            developmental anomaly of metabolic origin + 0
            diabetic nephropathy + 0
            diabetic retinopathy + 0
            disorder of acid-base balance + 0
            disorder of glycosylation + 0
            disorder of organic acid metabolism + 0
            dopa-responsive dystonia + 0
            glucose metabolism disease + 0
            glutaric aciduria + 0
            gout + 0
            hemochromatosis 0
            hepatic methionine adenosyltransferase deficiency 0
            hyperamylasemia 0
            hyperlipidemia + 0
            hyperlipoproteinemia + 0
            hyperprolactinemia + 0
            hypoalphalipoproteinemia + 0
            inborn errors of metabolism + 0
            lactic acidosis + 0
            lipodystrophy + 0
            metabolic syndrome 0
            metabolic toxicity 0
            methylmalonic aciduria (cobalamin deficiency) cblA type 0
            mineral metabolism disease + 0
            muscular dystrophy, congenital, with cataracts and intellectual disability 0
            nutritional disorder + 0
            peroxisome biogenesis disorder, complementation group 7 0
            porphyrin metabolism disease + 0
            proteostasis deficiencies + 0
            purine metabolism disease + 0
            pyrimidine metabolism disease + 0
            steroid dehydrogenase deficiency-dental anomalies syndrome 0
            steroid metabolism disease + 0
            x-linked warfarin sensitivity 0
            xanthinuria + 0
            xanthoma 0
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