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Ontology Browser

Parent Terms Term With Siblings Child Terms
sphingolipidosis +     
Fabry disease +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
Krabbe disease +   
metachromatic leukodystrophy +   
Niemann-Pick disease +   
sea-blue histiocytosis  
Sulfatidosis +   
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage).

Exact Synonyms: Sulfatidoses
Primary IDs: MESH:D052516 ;   RDO:0004533
Definition Sources: MESH:D052516

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