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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          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 + 9
          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
          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
          Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
          Copper Deficiency, Familial Benign 0
          Coumarin Sensitivity 5
          Deafness Hyperuricemia Neurologic Ataxia 0
          Defect in Hyaluronan Metabolism 0
          Defect in Hydroxylation of Diphenylhydantoin 0
          Deficient N-Hydroxylation of Amobarbital 0
          Deoxyribose-5-Phosphate Aldolase Deficiency 0
          Efavirenz, Poor Metabolism of 1
          Ethanolaminosis 0
          FUCOSYLTRANSFERASE 6 DEFICIENCY 2
          Familial Amyloidosis + 31
          Familial Hypokalemia 0
          Glucocorticoid Receptor Deficiency 1
          Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
          Glycoprotein Storage Disease 1
          Glyoxalase II Deficiency 0
          Gordon Holmes syndrome 1
          Greenberg dysplasia 1
          Hereditary Hyperbilirubinemia + 14
          Hypercalcemia, Infantile, 1 3
          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 + 505
          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
          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 1
          Uridine-Cytidineuria 1
          Weinstein Kliman Scully Syndrome 0
          Wiedemann Oldigs Oppermann Syndrome 0
          amino acid metabolic disorder + 433
          aromatase excess syndrome 1
          bilirubin metabolic disorder + 66
          carbohydrate metabolic disorder + 393
          congenital leptin deficiency 1
          congenital secretory chloride diarrhea 1 1
          congenital secretory sodium diarrhea 3 1
          cytochrome-c oxidase deficiency disease + 30
          dopamine beta-hydroxylase deficiency 2
          enterokinase deficiency 1
          familial erythrocytosis 8 1
          glycerol kinase deficiency 1
          immunodeficiency 43 1
          isolated elevated serum creatine phosphokinase levels 34
          isolated hyperchlorhidrosis 1
          lipid metabolism disorder + 899
          lysosomal storage disease + 526
          metal metabolism disorder + 117
          mitochondrial metabolism disease + 345
          overhydrated hereditary stomatocytosis 1
          peroxisomal disease + 133
          phosphoglycerate kinase 1 deficiency 1
          plasma protein metabolism disease + 8
          porphyria + 21
          progeria + 17
          purine-pyrimidine metabolic disorder + 35
          pyrimidine metabolic disorder + 2
          renal tubular transport disease + 93
          sepiapterin reductase deficiency 1
          steroid inherited metabolic disorder + 49
          thiopurine S-methyltransferase deficiency + 2
          trimethylaminuria 1
          vitamin metabolic disorder + 35
          warfarin resistance 5
          warfarin sensitivity + 6
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            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 + 9
            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
            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
            Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
            Copper Deficiency, Familial Benign 0
            Coumarin Sensitivity 5
            Deafness Hyperuricemia Neurologic Ataxia 0
            Defect in Hyaluronan Metabolism 0
            Defect in Hydroxylation of Diphenylhydantoin 0
            Deficient N-Hydroxylation of Amobarbital 0
            Deoxyribose-5-Phosphate Aldolase Deficiency 0
            Efavirenz, Poor Metabolism of 1
            Ethanolaminosis 0
            FUCOSYLTRANSFERASE 6 DEFICIENCY 2
            Familial Amyloidosis + 31
            Familial Hypokalemia 0
            Glucocorticoid Receptor Deficiency 1
            Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
            Glycoprotein Storage Disease 1
            Glyoxalase II Deficiency 0
            Gordon Holmes syndrome 1
            Greenberg dysplasia 1
            Hereditary Hyperbilirubinemia + 14
            Hypercalcemia, Infantile, 1 3
            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 + 505
            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
            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 1
            Uridine-Cytidineuria 1
            Weinstein Kliman Scully Syndrome 0
            Wiedemann Oldigs Oppermann Syndrome 0
            amino acid metabolic disorder + 433
            aromatase excess syndrome 1
            bilirubin metabolic disorder + 66
            carbohydrate metabolic disorder + 393
            congenital leptin deficiency 1
            congenital secretory chloride diarrhea 1 1
            congenital secretory sodium diarrhea 3 1
            cytochrome-c oxidase deficiency disease + 30
            dopamine beta-hydroxylase deficiency 2
            enterokinase deficiency 1
            familial erythrocytosis 8 1
            glycerol kinase deficiency 1
            immunodeficiency 43 1
            isolated elevated serum creatine phosphokinase levels 34
            isolated hyperchlorhidrosis 1
            lipid metabolism disorder + 899
            lysosomal storage disease + 526
            metal metabolism disorder + 117
            mitochondrial metabolism disease + 345
            overhydrated hereditary stomatocytosis 1
            peroxisomal disease + 133
            phosphoglycerate kinase 1 deficiency 1
            plasma protein metabolism disease + 8
            porphyria + 21
            progeria + 17
            purine-pyrimidine metabolic disorder + 35
            pyrimidine metabolic disorder + 2
            renal tubular transport disease + 93
            sepiapterin reductase deficiency 1
            steroid inherited metabolic disorder + 49
            thiopurine S-methyltransferase deficiency + 2
            trimethylaminuria 1
            vitamin metabolic disorder + 35
            warfarin resistance 5
            warfarin sensitivity + 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.