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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:A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. (DO)
Synonyms:exact_synonym: Inborn Errors of Metabolism;   Inborn Metabolism Error;   Metabolism, Inborn Errors;   inborn metabolism disorder;   metabolic hereditary disorder
 narrow_synonym: DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM
 related_synonym: Carbonic anhydrase I deficiency;   Carbonic anhydrase I, Guam
 primary_id: MESH:D008661
 xref: MIM:PS249270;   NCI:C34816
For additional species annotation, visit the Alliance of Genome Resources.


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    Path 1
    Term Annotations click to browse term
      disease 19099
        Nutritional and Metabolic Diseases 8520
          disease of metabolism 8520
            inherited metabolic disorder 6605
              3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3
              3-methylglutaconic aciduria + 152
              5-Nucleotidase Syndrome 0
              6-Phosphogluconolactonase Deficiency 0
              Acetylcarnitine Deficiency 0
              Acholinesterasemia 2
              Acid Phosphatase Deficiency 1
              Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
              Alpha-Fetoprotein Deficiency 1
              Alpha-Fetoprotein, Hereditary Persistence of 1
              Amino Acid Transport Disorders, Inborn + 13
              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 7
              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
              Congenital Nonspherocytic Hemolytic Anemia 4 1
              Congenital Nonspherocytic Hemolytic Anemia 5 1
              Copper Deficiency, Familial Benign 0
              Coumarin Sensitivity 4
              DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
              Deafness Hyperuricemia Neurologic Ataxia 0
              Decreased Urinary Activity of Kallikrein 2
              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 + 33
              Familial Hypokalemia + 1
              Glucocorticoid Receptor Deficiency 1
              Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
              Glycoprotein Storage Disease 1
              Glyoxalase II Deficiency 1
              Gordon Holmes syndrome 2
              Greenberg dysplasia 1
              Hereditary Hyperbilirubinemia + 16
              Hypercalcemia, Infantile, 1 2
              Hypoadiponectinemia 1
              Inosine Triphosphatase Deficiency 41
              Lactate Dehydrogenase B Deficiency 1
              Lactic Aciduria due to D-Lactic Acid 1
              Leptin Receptor Deficiency 2
              Leukotriene C4 Synthase Deficiency 1
              Malonic Aciduria 5
              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 + 1380
              Methemoglobin Reductase Deficiency 0
              Methylmalonyl-Coenzyme A Mutase Deficiency 0
              Monocarboxylate Transporter 1 Deficiency 1
              Monocyte Esterase Deficiency 1
              Myeloperoxidase Deficiency 3
              N Acetyltransferase Deficiency + 1
              Nonfunctional L-Gulonolactone Oxidase 0
              Phenacetin O-Deethylase, Deficiency of 1
              Phenol Sulfotransferase Deficiency 0
              Phosphohydroxylysinuria 1
              Poor Drug Metabolism, CYP2C19-Related 1
              Poor Drug Metabolism, CYP2D6-Related 1
              Poor Metabolism of Proguanil 1
              Retinol-Binding Protein Deficiency 0
              SEDOHEPTULOKINASE DEFICIENCY 1
              SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY 1
              Squalene Synthase Deficiency 2
              Stomatocytosis II 2
              Succinic Acidemia 0
              Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
              Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 2
              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
              aceruloplasminemia 14
              amino acid metabolic disorder + 1586
              aromatase excess syndrome 3
              bilirubin metabolic disorder + 73
              carbohydrate metabolic disorder + 3410
              cerebral amyloid angiopathy + 11
              congenital leptin deficiency 2
              congenital secretory chloride diarrhea 1 2
              congenital secretory sodium diarrhea 3 1
              dopamine beta-hydroxylase deficiency 2
              enterokinase deficiency 1
              familial erythrocytosis 8 1
              familial hypocalciuric hypercalcemia + 39
              hyperphosphatemic familial tumoral calcinosis + 119
              immunodeficiency 43 1
              immunoglobulin light chain amyloidosis 3
              isolated elevated serum creatine phosphokinase levels 20
              isolated hyperchlorhidrosis 1
              lipid metabolism disorder + 1901
              lysosomal storage disease + 1051
              metal metabolism disorder + 248
              mitochondrial metabolism disease + 817
              neonatal diabetes mellitus with congenital hypothyroidism 1
              overhydrated hereditary stomatocytosis 1
              permanent neonatal diabetes mellitus + 8
              peroxisomal disease + 371
              phosphoglycerate kinase 1 deficiency 1
              plasma protein metabolism disease + 10
              poor metabolism of thiopurines + 2
              porphyria + 26
              progeria + 20
              purine-pyrimidine metabolic disorder + 273
              pyrimidine metabolic disorder + 2
              renal tubular transport disease + 110
              sepiapterin reductase deficiency 1
              steroid inherited metabolic disorder + 64
              trimethylaminuria 2
              type 1 diabetes mellitus 2 5
              variant ABeta2M amyloidosis 0
              vitamin metabolic disorder + 52
              warfarin resistance 4
              warfarin sensitivity + 6
    Path 2
    Term Annotations click to browse term
      disease 19099
        Developmental Disease 14598
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
            genetic disease 13275
              inherited metabolic disorder 6605
                3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3
                3-methylglutaconic aciduria + 152
                5-Nucleotidase Syndrome 0
                6-Phosphogluconolactonase Deficiency 0
                Acetylcarnitine Deficiency 0
                Acholinesterasemia 2
                Acid Phosphatase Deficiency 1
                Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
                Alpha-Fetoprotein Deficiency 1
                Alpha-Fetoprotein, Hereditary Persistence of 1
                Amino Acid Transport Disorders, Inborn + 13
                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 7
                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
                Congenital Nonspherocytic Hemolytic Anemia 4 1
                Congenital Nonspherocytic Hemolytic Anemia 5 1
                Copper Deficiency, Familial Benign 0
                Coumarin Sensitivity 4
                DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
                Deafness Hyperuricemia Neurologic Ataxia 0
                Decreased Urinary Activity of Kallikrein 2
                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 + 33
                Familial Hypokalemia + 1
                Glucocorticoid Receptor Deficiency 1
                Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
                Glycoprotein Storage Disease 1
                Glyoxalase II Deficiency 1
                Gordon Holmes syndrome 2
                Greenberg dysplasia 1
                Hereditary Hyperbilirubinemia + 16
                Hypercalcemia, Infantile, 1 2
                Hypoadiponectinemia 1
                Inosine Triphosphatase Deficiency 41
                Lactate Dehydrogenase B Deficiency 1
                Lactic Aciduria due to D-Lactic Acid 1
                Leptin Receptor Deficiency 2
                Leukotriene C4 Synthase Deficiency 1
                Malonic Aciduria 5
                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 + 1380
                Methemoglobin Reductase Deficiency 0
                Methylmalonyl-Coenzyme A Mutase Deficiency 0
                Monocarboxylate Transporter 1 Deficiency 1
                Monocyte Esterase Deficiency 1
                Myeloperoxidase Deficiency 3
                N Acetyltransferase Deficiency + 1
                Nonfunctional L-Gulonolactone Oxidase 0
                Phenacetin O-Deethylase, Deficiency of 1
                Phenol Sulfotransferase Deficiency 0
                Phosphohydroxylysinuria 1
                Poor Drug Metabolism, CYP2C19-Related 1
                Poor Drug Metabolism, CYP2D6-Related 1
                Poor Metabolism of Proguanil 1
                Retinol-Binding Protein Deficiency 0
                SEDOHEPTULOKINASE DEFICIENCY 1
                SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY 1
                Squalene Synthase Deficiency 2
                Stomatocytosis II 2
                Succinic Acidemia 0
                Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
                Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 2
                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
                aceruloplasminemia 14
                amino acid metabolic disorder + 1586
                aromatase excess syndrome 3
                bilirubin metabolic disorder + 73
                carbohydrate metabolic disorder + 3410
                cerebral amyloid angiopathy + 11
                congenital leptin deficiency 2
                congenital secretory chloride diarrhea 1 2
                congenital secretory sodium diarrhea 3 1
                dopamine beta-hydroxylase deficiency 2
                enterokinase deficiency 1
                familial erythrocytosis 8 1
                familial hypocalciuric hypercalcemia + 39
                hyperphosphatemic familial tumoral calcinosis + 119
                immunodeficiency 43 1
                immunoglobulin light chain amyloidosis 3
                isolated elevated serum creatine phosphokinase levels 20
                isolated hyperchlorhidrosis 1
                lipid metabolism disorder + 1901
                lysosomal storage disease + 1051
                metal metabolism disorder + 248
                mitochondrial metabolism disease + 817
                neonatal diabetes mellitus with congenital hypothyroidism 1
                overhydrated hereditary stomatocytosis 1
                permanent neonatal diabetes mellitus + 8
                peroxisomal disease + 371
                phosphoglycerate kinase 1 deficiency 1
                plasma protein metabolism disease + 10
                poor metabolism of thiopurines + 2
                porphyria + 26
                progeria + 20
                purine-pyrimidine metabolic disorder + 273
                pyrimidine metabolic disorder + 2
                renal tubular transport disease + 110
                sepiapterin reductase deficiency 1
                steroid inherited metabolic disorder + 64
                trimethylaminuria 2
                type 1 diabetes mellitus 2 5
                variant ABeta2M amyloidosis 0
                vitamin metabolic disorder + 52
                warfarin resistance 4
                warfarin sensitivity + 6
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