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Term:
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Alpha-Fetoprotein Deficiency  
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  
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 secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Defect in Hyaluronan Metabolism 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
Familial Hypokalemia 
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycerol kinase deficiency  
Glycoprotein Storage Disease  
Glyoxalase II Deficiency 
Gordon Holmes syndrome  
Greenberg dysplasia  
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
Hypoadiponectinemia  
immunodeficiency 43  
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
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 +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
overhydrated hereditary stomatocytosis  
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
progeria +   
Proguanil, Poor Metabolism of  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinic Acidemia 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency 
Uridine-Cytidineuria  
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 

Synonyms
Exact Synonyms: Lysosomal Enzyme Disorder ;   Lysosomal Enzyme Disorders ;   disorder of lysosomal enzyme ;   inborn lysosomal enzyme disorder ;   lysosomal storage diseases ;   lysosomal storage metabolism disorder
Primary IDs: MESH:D016464 ;   RDO:0001994
Xrefs: NCI:C61250
Definition Sources: http://en.wikipedia.org/wiki/Lysosomal_storage_disease "DO", MESH:D016464

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.