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ONTOLOGY REPORT - ANNOTATIONS


Term:inherited metabolic disorder
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Accession:DOID:655 term browser browse the term
Definition:Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Inborn Errors Metabolisms;   Inborn Errors of Metabolism;   Inborn Metabolism Error;   Metabolic hereditary disorder;   Metabolism, Inborn Errors;   inborn metabolism disorder
 narrow_synonym: DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM
 related_synonym: Carbonic anhydrase I deficiency;   Carbonic anhydrase I, Guam
 primary_id: MESH:D008661
 alt_id: RDO:0000348
 xref: NCI:C34816;   OMIM:PS249270
For additional species annotation, visit the Alliance of Genome Resources.


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Path 1
Term Annotations click to browse term
  disease 15984
    Nutritional and Metabolic Diseases 4630
      disease of metabolism 4630
        inherited metabolic disorder 2177
          3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
          3-Hydroxyacyl-CoA Dehydrogenase Deficiency 1
          3-methylglutaconic aciduria + 12
          5-Nucleotidase Syndrome 0
          6-Phosphogluconolactonase Deficiency 0
          Acetylcarnitine Deficiency 0
          Acholinesterasemia 0
          Acid Phosphatase Deficiency 1
          Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
          Alpha-Fetoprotein Deficiency 1
          Amino Acid Transport Disorders, Inborn + 8
          Angiotensin I-Converting Enzyme, Benign Serum Increase 1
          Arene Oxide Detoxification Defect 0
          Aryl Hydrocarbon Hydroxylase Inducibility 0
          Butyrylcholinesterase Deficiency 2
          Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 1
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
          CHITOTRIOSIDASE DEFICIENCY 1
          COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1
          Carnitine Acetyltransferase Deficiency 1
          Chromate Resistance 0
          Combined Congenital Deficiency of Intrinsic Factor and R Binder 0
          Combined Defect of Growth Factors 0
          Combined Exocrine Pancreatic Insufficiency 0
          Copper Deficiency, Familial Benign 0
          Coumarin Sensitivity 5
          Deafness Hyperuricemia Neurologic Ataxia 0
          Defect in Hyaluronan Metabolism 0
          Deficient N-Hydroxylation of Amobarbital 0
          Deoxyribose-5-Phosphate Aldolase Deficiency 0
          Diphenylhydantoin, Defect in Hydroxylation of 0
          Efavirenz, Poor Metabolism of 1
          Ethanolaminosis 0
          FUCOSYLTRANSFERASE 6 DEFICIENCY 1
          Familial Amyloidosis + 31
          Familial Hypokalemia 0
          Glucocorticoid Receptor Deficiency 1
          Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
          Glycoprotein Storage Disease 0
          Glyoxalase II Deficiency 0
          Gordon Holmes syndrome 1
          Greenberg dysplasia 1
          Hereditary Hyperbilirubinemia + 15
          Hypercalcemia, Infantile, 1 2
          Hypercatabolic Hypoproteinemia 1
          Hypoadiponectinemia 1
          Inosine Triphosphatase Deficiency 4
          Kallikrein, Decreased Urinary Activity of 1
          Lactate Dehydrogenase B Deficiency 1
          Lactic Aciduria due to D-Lactic Acid 1
          Leptin Receptor Deficiency 2
          Leukotriene C4 Synthase Deficiency 1
          MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
          Malonic Aciduria 2
          Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 0
          Mannose-Binding Protein Deficiency 1
          Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
          Metabolic Brain Diseases, Inborn + 501
          Methemoglobin Reductase Deficiency 0
          Methylmalonyl-Coenzyme A Mutase Deficiency 0
          Monocarboxylate Transporter 1 Deficiency 1
          Myeloperoxidase Deficiency 2
          N Acetyltransferase Deficiency + 1
          Nonfunctional L-Gulonolactone Oxidase 0
          Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
          Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
          Phenacetin O-Deethylase, Deficiency of 0
          Phenol Sulfotransferase Deficiency 0
          Phosphoglycerate Kinase 1 Deficiency 1
          Phosphohydroxylysinuria 1
          Poor Drug Metabolism, CYP2C19-Related 1
          Poor Drug Metabolism, CYP2D6-Related 1
          Proguanil, Poor Metabolism of 1
          Retinol-Binding Protein Deficiency 0
          SEDOHEPTULOKINASE DEFICIENCY 1
          Squalene Synthase Deficiency 2
          Stomatocytosis II 1
          Succinic Acidemia 0
          Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
          Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 1
          Thyrotropin-Releasing Hormone Deficiency 1
          Transcobalamin I Deficiency 0
          Trypsinogen Deficiency 0
          Uridine-Cytidineuria 1
          Weinstein Kliman Scully Syndrome 0
          Wiedemann Oldigs Oppermann Syndrome 0
          amino acid metabolic disorder + 429
          aromatase excess syndrome 1
          bilirubin metabolic disorder + 65
          carbohydrate metabolic disorder + 383
          congenital leptin deficiency 1
          congenital secretory chloride diarrhea 1 1
          congenital secretory sodium diarrhea 3 1
          cytochrome-c oxidase deficiency disease + 27
          dopamine beta-hydroxylase deficiency 2
          enterokinase deficiency 1
          familial erythrocytosis 8 1
          glycerol kinase deficiency 1
          isolated elevated serum creatine phosphokinase levels 13
          isolated hyperchlorhidrosis 1
          lipid metabolism disorder + 883
          lysosomal storage disease + 521
          metal metabolism disorder + 116
          mitochondrial complex II deficiency 3
          mitochondrial metabolism disease + 323
          overhydrated hereditary stomatocytosis 1
          peroxisomal disease + 133
          plasma protein metabolism disease + 8
          porphyria + 21
          progeria + 17
          purine-pyrimidine metabolic disorder + 34
          pyrimidine metabolic disorder + 2
          renal tubular transport disease + 88
          sepiapterin reductase deficiency 1
          steroid inherited metabolic disorder + 47
          thiopurine S-methyltransferase deficiency + 2
          trimethylaminuria 1
          vitamin metabolic disorder + 34
          warfarin resistance 5
          warfarin sensitivity 6
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          inherited metabolic disorder 2177
            3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
            3-Hydroxyacyl-CoA Dehydrogenase Deficiency 1
            3-methylglutaconic aciduria + 12
            5-Nucleotidase Syndrome 0
            6-Phosphogluconolactonase Deficiency 0
            Acetylcarnitine Deficiency 0
            Acholinesterasemia 0
            Acid Phosphatase Deficiency 1
            Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
            Alpha-Fetoprotein Deficiency 1
            Amino Acid Transport Disorders, Inborn + 8
            Angiotensin I-Converting Enzyme, Benign Serum Increase 1
            Arene Oxide Detoxification Defect 0
            Aryl Hydrocarbon Hydroxylase Inducibility 0
            Butyrylcholinesterase Deficiency 2
            Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 1
            CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
            CHITOTRIOSIDASE DEFICIENCY 1
            COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1
            Carnitine Acetyltransferase Deficiency 1
            Chromate Resistance 0
            Combined Congenital Deficiency of Intrinsic Factor and R Binder 0
            Combined Defect of Growth Factors 0
            Combined Exocrine Pancreatic Insufficiency 0
            Copper Deficiency, Familial Benign 0
            Coumarin Sensitivity 5
            Deafness Hyperuricemia Neurologic Ataxia 0
            Defect in Hyaluronan Metabolism 0
            Deficient N-Hydroxylation of Amobarbital 0
            Deoxyribose-5-Phosphate Aldolase Deficiency 0
            Diphenylhydantoin, Defect in Hydroxylation of 0
            Efavirenz, Poor Metabolism of 1
            Ethanolaminosis 0
            FUCOSYLTRANSFERASE 6 DEFICIENCY 1
            Familial Amyloidosis + 31
            Familial Hypokalemia 0
            Glucocorticoid Receptor Deficiency 1
            Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
            Glycoprotein Storage Disease 0
            Glyoxalase II Deficiency 0
            Gordon Holmes syndrome 1
            Greenberg dysplasia 1
            Hereditary Hyperbilirubinemia + 15
            Hypercalcemia, Infantile, 1 2
            Hypercatabolic Hypoproteinemia 1
            Hypoadiponectinemia 1
            Inosine Triphosphatase Deficiency 4
            Kallikrein, Decreased Urinary Activity of 1
            Lactate Dehydrogenase B Deficiency 1
            Lactic Aciduria due to D-Lactic Acid 1
            Leptin Receptor Deficiency 2
            Leukotriene C4 Synthase Deficiency 1
            MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
            Malonic Aciduria 2
            Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 0
            Mannose-Binding Protein Deficiency 1
            Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
            Metabolic Brain Diseases, Inborn + 501
            Methemoglobin Reductase Deficiency 0
            Methylmalonyl-Coenzyme A Mutase Deficiency 0
            Monocarboxylate Transporter 1 Deficiency 1
            Myeloperoxidase Deficiency 2
            N Acetyltransferase Deficiency + 1
            Nonfunctional L-Gulonolactone Oxidase 0
            Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
            Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
            Phenacetin O-Deethylase, Deficiency of 0
            Phenol Sulfotransferase Deficiency 0
            Phosphoglycerate Kinase 1 Deficiency 1
            Phosphohydroxylysinuria 1
            Poor Drug Metabolism, CYP2C19-Related 1
            Poor Drug Metabolism, CYP2D6-Related 1
            Proguanil, Poor Metabolism of 1
            Retinol-Binding Protein Deficiency 0
            SEDOHEPTULOKINASE DEFICIENCY 1
            Squalene Synthase Deficiency 2
            Stomatocytosis II 1
            Succinic Acidemia 0
            Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
            Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 1
            Thyrotropin-Releasing Hormone Deficiency 1
            Transcobalamin I Deficiency 0
            Trypsinogen Deficiency 0
            Uridine-Cytidineuria 1
            Weinstein Kliman Scully Syndrome 0
            Wiedemann Oldigs Oppermann Syndrome 0
            amino acid metabolic disorder + 429
            aromatase excess syndrome 1
            bilirubin metabolic disorder + 65
            carbohydrate metabolic disorder + 383
            congenital leptin deficiency 1
            congenital secretory chloride diarrhea 1 1
            congenital secretory sodium diarrhea 3 1
            cytochrome-c oxidase deficiency disease + 27
            dopamine beta-hydroxylase deficiency 2
            enterokinase deficiency 1
            familial erythrocytosis 8 1
            glycerol kinase deficiency 1
            isolated elevated serum creatine phosphokinase levels 13
            isolated hyperchlorhidrosis 1
            lipid metabolism disorder + 883
            lysosomal storage disease + 521
            metal metabolism disorder + 116
            mitochondrial complex II deficiency 3
            mitochondrial metabolism disease + 323
            overhydrated hereditary stomatocytosis 1
            peroxisomal disease + 133
            plasma protein metabolism disease + 8
            porphyria + 21
            progeria + 17
            purine-pyrimidine metabolic disorder + 34
            pyrimidine metabolic disorder + 2
            renal tubular transport disease + 88
            sepiapterin reductase deficiency 1
            steroid inherited metabolic disorder + 47
            thiopurine S-methyltransferase deficiency + 2
            trimethylaminuria 1
            vitamin metabolic disorder + 34
            warfarin resistance 5
            warfarin sensitivity 6
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