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Ontology Browser

Parent Terms Term With Siblings Child Terms
Cephalin Lipidosis 
Familial Cardiac Lipidosis 
Farber lipogranulomatosis  
fatty liver disease +   
glycogen storage disease II +   
glycoproteinosis +   
lysosomal and lipase deficiency +   
mucolipidosis +   
neuronal ceroid lipofuscinosis +   
Neurovisceral Storage Disease with Curvilinear Bodies 
neutral lipid storage disease +   
sialuria +   
Sjogren-Larsson syndrome +   
sphingolipidosis +   
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Tremor of Intention, Ataxia, and Lipofuscinosis 
xanthomatosis +   

Exact Synonyms: Sphingolipid Storage Disease ;   Sphingolipid Storage Diseases ;   sphingolipidoses
Primary IDs: MESH:D013106 ;   RDO:0004852
Xrefs: GARD:7672 ;   ICD10CM:E75.3 ;   NCI:C117254
Definition Sources: MESH:D013106,,

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