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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
aspartylglucosaminuria  
beta-mannosidosis  
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
congenital disorder of glycosylation +   
congenital lactase deficiency  
congenital sucrase-isomaltase deficiency  
cystinosis +   
D-glyceric aciduria  
Danon disease  
follicular mucinosis 
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
galactosemia +   
galactosialidosis  
Ganglion Cysts 
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
Glutamyl Ribose-5-Phosphate Storage Disease 
glycerol kinase deficiency  
glycogen metabolism disorder +   
glycoproteinosis +   
hyperinsulinemic hypoglycemia +   
Hyperproglucagonemia 
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
intestinal disaccharidase deficiency 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
lipid storage disease +   
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
mucopolysaccharidosis +   
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
myxedema 
NGLY1-deficiency  
Ogden syndrome  
pentosuria  
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
primary hyperoxaluria +   
pycnodysostosis  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Ribose 5-Phosphate Isomerase Deficiency  
Schindler Disease, Type I  
scleredema adultorum 
Scleromyxedema  
Storage of Unusual Polysaccharide 
Transaldolase Deficiency  
Trehalase Deficiency  
triosephosphate isomerase deficiency  
Vacuolar Myopathy  
Xylosidase Deficiency 

Synonyms
Exact Synonyms: mucopolysaccharidoses
Related Synonyms: IDUA pseudodeficiency
Primary IDs: MESH:D009083
Alternate IDs: RDO:0006012
Xrefs: GARD:7065 ;   ICD10CM:E76.3 ;   ICD9CM:277.5 ;   NCI:C61259 ;   OMIM:PS607014 ;   ORDO:79213
Definition Sources: http://en.wikipedia.org/wiki/Mucopolysaccharidosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis "DO", MESH:D009083

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