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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
disease of metabolism +     
genetic disease +     
Acid-Base Imbalance +   
acquired metabolic disease +   
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
DNA Repair-Deficiency Disorders +   
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis 3  
frontotemporal dementia and/or amyotrophic lateral sclerosis 4  
Genetic Skin Diseases +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hyperlactatemia 
inherited metabolic disorder +   
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)
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
lipid metabolism disorder +   
Malabsorption Syndromes +   
Marfan syndrome +   
Metabolic Bone Diseases +   
Metabolic Brain Diseases +   
Metabolic Skin Diseases +   
Metabolic Syndrome +   
mineral metabolism disease +   
mitochondrial metabolism disease +   
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
phosphorus metabolism disease +   
polygenic disease +   
porphyria +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Proteostasis Deficiencies +   
Sacral Agenesis with Vertebral Anomalies  
Wasting Syndrome +   
Water-Electrolyte Imbalance +   
 3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
 5-Nucleotidase Syndrome 
 6-Phosphogluconolactonase Deficiency 
 aceruloplasminemia  
 Acetylcarnitine Deficiency 
 Acholinesterasemia  
 Acid Phosphatase Deficiency  
 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
 Alpha-Fetoprotein Deficiency  
 Alpha-Fetoprotein, Hereditary Persistence of  
 amino acid metabolic disorder +   
 Amino Acid Transport Disorders, Inborn +   
 Angiotensin I-Converting Enzyme, Benign Serum Increase  
 Arene Oxide Detoxification Defect 
 aromatase excess syndrome  
 Aryl Hydrocarbon Hydroxylase Inducibility 
 bilirubin metabolic disorder +   
 Butyrylcholinesterase Deficiency  
 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
 carbohydrate metabolic disorder +   
 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
 Carnitine Acetyltransferase Deficiency  
 cerebral amyloid angiopathy +   
 CHITOTRIOSIDASE DEFICIENCY  
 Chromate Resistance 
 Combined Congenital Deficiency of Intrinsic Factor and R Binder 
 Combined Defect of Growth Factors 
 Combined Exocrine Pancreatic Insufficiency 
 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
 congenital leptin deficiency  
 congenital nonspherocytic hemolytic anemia 4  
 congenital nonspherocytic hemolytic anemia 5  
 congenital secretory chloride diarrhea 1  
 congenital secretory sodium diarrhea 3  
 Copper Deficiency, Familial Benign 
 Coumarin Sensitivity  
 Deafness Hyperuricemia Neurologic Ataxia 
 Decreased Urinary Activity of Kallikrein  
 Defect in Hyaluronan Metabolism 
 Defect in Hydroxylation of Diphenylhydantoin 
 Deficient N-Hydroxylation of Amobarbital 
 Deoxyribose-5-Phosphate Aldolase Deficiency 
 dopamine beta-hydroxylase deficiency  
 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
 Efavirenz, Poor Metabolism of  
 enterokinase deficiency  
 Ethanolaminosis 
 Familial Amyloidosis +   
 familial erythrocytosis 8  
 familial hypocalciuric hypercalcemia +   
 Familial Hypokalemia +   
 FUCOSYLTRANSFERASE 6 DEFICIENCY  
 Glucocorticoid Receptor Deficiency  
 Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
 Glycoprotein Storage Disease  
 Glyoxalase II Deficiency  
 Gordon Holmes syndrome  
 Greenberg dysplasia  
 Hereditary Hyperbilirubinemia +   
 Hypercalcemia, Infantile, 1  
 hyperphosphatemic familial tumoral calcinosis +   
 Hypoadiponectinemia  
 immunodeficiency 43  
 immunoglobulin light chain amyloidosis  
 Inosine Triphosphatase Deficiency  
 isolated elevated serum creatine phosphokinase levels  
 isolated hyperchlorhidrosis  
 Lactate Dehydrogenase B Deficiency  
 Lactic Aciduria due to D-Lactic Acid  
 Leptin Receptor Deficiency  
 Leukotriene C4 Synthase Deficiency  
 lipid metabolism disorder +   
 lysosomal storage disease +   
 Malonic Aciduria  
 Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
 Mannose-Binding Protein Deficiency  
 Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
 Metabolic Brain Diseases, Inborn +   
 metal metabolism disorder +   
 Methemoglobin Reductase Deficiency 
 Methylmalonyl-Coenzyme A Mutase Deficiency 
 mitochondrial metabolism disease +   
 Monocarboxylate Transporter 1 Deficiency  
 Monocyte Esterase Deficiency  
 Myeloperoxidase Deficiency  
 N Acetyltransferase Deficiency +   
 Nonfunctional L-Gulonolactone Oxidase 
 overhydrated hereditary stomatocytosis  
 peroxisomal disease +   
 Phenacetin O-Deethylase, Deficiency of  
 Phenol Sulfotransferase Deficiency 
 Phosphohydroxylysinuria  
 plasma protein metabolism disease +   
 Poor Drug Metabolism, CYP2C19-Related  
 Poor Drug Metabolism, CYP2D6-Related  
 Poor Metabolism of Proguanil  
 poor metabolism of thiopurines +   
 porphyria +   
 progeria +   
 purine-pyrimidine metabolic disorder +   
 pyrimidine metabolic disorder +   
 renal tubular transport disease +   
 Retinol-Binding Protein Deficiency 
 SEDOHEPTULOKINASE DEFICIENCY  
 sepiapterin reductase deficiency  
 Squalene Synthase Deficiency  
 Stomatocytosis II  
 Succinic Acidemia 
 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
 Thyrotropin-Releasing Hormone Deficiency  
 Transcobalamin I Deficiency  
 trimethylaminuria  
 Trypsinogen Deficiency  
 type 1 diabetes mellitus 2  
 Uridine-Cytidineuria  
 variant ABeta2M amyloidosis 
 vitamin metabolic disorder +   
 warfarin resistance  
 warfarin sensitivity +   
 Weinstein Kliman Scully Syndrome 
 Wiedemann Oldigs Oppermann Syndrome 

Synonyms
Exact Synonyms: Inborn Errors of Metabolism ;   Inborn Metabolism Error ;   Metabolism, Inborn Errors ;   inborn metabolism disorder ;   metabolic hereditary disorder
Narrow Synonyms: DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM
Related Synonyms: Carbonic anhydrase I deficiency ;   Carbonic anhydrase I, Guam
Primary IDs: MESH:D008661
Xrefs: MIM:PS249270 ;   NCI:C34816
Definition Sources: http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism "DO" "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO" "DO"

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