Ontology Browser

Parent Terms Term With Siblings Child Terms
Aloi Tomasini Isaia Syndrome 
Bone Demineralization, Pathologic +  
childhood onset GLUT1 deficiency syndrome 2  
Chitty Hall Baraitser Syndrome 
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
congenital disorder of glycosylation +   
congenital disorder of glycosylation type IIa  
Congenital Lactase Deficiency  
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
galactosemia +   
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycogen metabolism disorder +   
glycogen storage disease +   
glycogen storage disease II +   
glycoproteinosis +   
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (DO)
hyperinsulinemic hypoglycemia +   
Hypophosphatemic Bone Disease 
Hypouricemia, Hypercalcinuria, and Decreased Bone Density 
inclusion-cell disease  
intestinal disaccharidase deficiency 
Kaler Garrity Stern Syndrome 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Mannosidase Deficiency Diseases +   
mucolipidosis type IV  
mucopolysaccharidosis +   
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
Ogden syndrome  
osteoporosis +   
Panostotic Fibrous Dysplasia 
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
Polysaccharide, Storage of Unusual 
primary hyperoxaluria +   
Progressive Osseous Heteroplasia  
pseudo-Hurler polydystrophy +   
pseudohypoparathyroidism +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Revesz syndrome  
Ribose 5-Phosphate Isomerase Deficiency  
rickets +   
sialuria +   
sphingolipidosis +   
Sucrase-Isomaltase Deficiency, Congenital  
Transaldolase Deficiency  
Trehalase Deficiency  
triosephosphate isomerase deficiency  
Xylosidase Deficiency 

Exact Synonyms: Glycoprotein Neuraminidase Deficiency ;   Mucolipidosis III Alpha Beta ;   Mucolipidosis Type III ;   Pseudo Hurler Polydystrophy ;   Psuedo Hurler Disease ;   Psuedo-Hurler Diseases ;   Sialidoses ;   Sialidosis ;   Sialolipidoses ;   cherry red spot myoclonus syndrome ;   ganglioside sialidase deficiency disease ;   glycoprotein neuraminidase deficiencies ;   sialolipidosis ;   type III mucolipidoses
Primary IDs: RDO:0003199
Xrefs: GARD:10670
Definition Sources: http://en.wikipedia.org/wiki/Sialidosis, https://en.wikipedia.org/wiki/Glycoproteinosis, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract

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