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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 Metabolisms;   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: 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 17208
        Nutritional and Metabolic Diseases 5535
          disease of metabolism 5535
            inherited metabolic disorder 2618
              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 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
              Copper Deficiency, Familial Benign 0
              Coumarin Sensitivity 4
              DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
              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 + 32
              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 1
              Greenberg dysplasia 1
              Hereditary Hyperbilirubinemia + 13
              Hypercalcemia, Infantile, 1 3
              Hypoadiponectinemia 1
              Inosine Triphosphatase Deficiency 16
              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 + 535
              Methemoglobin Reductase Deficiency 0
              Methylmalonyl-Coenzyme A Mutase Deficiency 0
              Monocarboxylate Transporter 1 Deficiency 1
              Monocyte Esterase 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 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) 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
              aceruloplasminemia 3
              amino acid metabolic disorder + 444
              aromatase excess syndrome 1
              bilirubin metabolic disorder + 66
              carbohydrate metabolic disorder + 527
              cerebral amyloid angiopathy + 11
              congenital leptin deficiency 1
              congenital secretory chloride diarrhea 1 1
              congenital secretory sodium diarrhea 3 1
              cytochrome-c oxidase deficiency disease + 31
              dopamine beta-hydroxylase deficiency 2
              enterokinase deficiency 1
              familial erythrocytosis 8 1
              familial hypocalciuric hypercalcemia + 3
              hyperphosphatemic familial tumoral calcinosis + 116
              hypoinsulinemic hypoglycemia with hemihypertrophy 1
              immunodeficiency 43 1
              immunoglobulin light chain amyloidosis 3
              isolated elevated serum creatine phosphokinase levels 14
              isolated hyperchlorhidrosis 1
              lipid metabolism disorder + 994
              lysosomal storage disease + 618
              maturity-onset diabetes of the young + 27
              metal metabolism disorder + 120
              mitochondrial metabolism disease + 394
              neonatal diabetes mellitus with congenital hypothyroidism 1
              overhydrated hereditary stomatocytosis 1
              permanent neonatal diabetes mellitus + 8
              peroxisomal disease + 136
              phosphoglycerate kinase 1 deficiency 1
              plasma protein metabolism disease + 8
              porphyria + 21
              progeria + 19
              purine-pyrimidine metabolic disorder + 45
              pyrimidine metabolic disorder + 2
              renal tubular transport disease + 93
              sepiapterin reductase deficiency 1
              steroid inherited metabolic disorder + 51
              thiopurine S-methyltransferase deficiency + 2
              trimethylaminuria 1
              type 1 diabetes mellitus 2 4
              variant ABeta2M amyloidosis 0
              vitamin metabolic disorder + 36
              warfarin resistance 4
              warfarin sensitivity + 6
    Path 2
    Term Annotations click to browse term
      disease 17208
        Developmental Disease 10920
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
            genetic disease 8961
              inherited metabolic disorder 2618
                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 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
                Copper Deficiency, Familial Benign 0
                Coumarin Sensitivity 4
                DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
                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 + 32
                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 1
                Greenberg dysplasia 1
                Hereditary Hyperbilirubinemia + 13
                Hypercalcemia, Infantile, 1 3
                Hypoadiponectinemia 1
                Inosine Triphosphatase Deficiency 16
                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 + 535
                Methemoglobin Reductase Deficiency 0
                Methylmalonyl-Coenzyme A Mutase Deficiency 0
                Monocarboxylate Transporter 1 Deficiency 1
                Monocyte Esterase 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 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) 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
                aceruloplasminemia 3
                amino acid metabolic disorder + 444
                aromatase excess syndrome 1
                bilirubin metabolic disorder + 66
                carbohydrate metabolic disorder + 527
                cerebral amyloid angiopathy + 11
                congenital leptin deficiency 1
                congenital secretory chloride diarrhea 1 1
                congenital secretory sodium diarrhea 3 1
                cytochrome-c oxidase deficiency disease + 31
                dopamine beta-hydroxylase deficiency 2
                enterokinase deficiency 1
                familial erythrocytosis 8 1
                familial hypocalciuric hypercalcemia + 3
                hyperphosphatemic familial tumoral calcinosis + 116
                hypoinsulinemic hypoglycemia with hemihypertrophy 1
                immunodeficiency 43 1
                immunoglobulin light chain amyloidosis 3
                isolated elevated serum creatine phosphokinase levels 14
                isolated hyperchlorhidrosis 1
                lipid metabolism disorder + 994
                lysosomal storage disease + 618
                maturity-onset diabetes of the young + 27
                metal metabolism disorder + 120
                mitochondrial metabolism disease + 394
                neonatal diabetes mellitus with congenital hypothyroidism 1
                overhydrated hereditary stomatocytosis 1
                permanent neonatal diabetes mellitus + 8
                peroxisomal disease + 136
                phosphoglycerate kinase 1 deficiency 1
                plasma protein metabolism disease + 8
                porphyria + 21
                progeria + 19
                purine-pyrimidine metabolic disorder + 45
                pyrimidine metabolic disorder + 2
                renal tubular transport disease + 93
                sepiapterin reductase deficiency 1
                steroid inherited metabolic disorder + 51
                thiopurine S-methyltransferase deficiency + 2
                trimethylaminuria 1
                type 1 diabetes mellitus 2 4
                variant ABeta2M amyloidosis 0
                vitamin metabolic disorder + 36
                warfarin resistance 4
                warfarin sensitivity + 6
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