Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
sphingolipidosis +     
Fabry disease +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
Krabbe disease +   
metachromatic leukodystrophy +   
mucosulfatidosis  
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).

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

paths to the root

NHLBI Logo

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