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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cerebral lipidosis with dementia +  
lysosomal acid lipase deficiency +  
neuronal ceroid lipofuscinosis +  
neutral lipid storage disease +  
sphingolipidosis +   
An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
xanthomatosis +  

Synonyms
Exact Synonyms: DOID:1927 ;   NCIT:C117254 ;   Orphanet:79225 ;   http://identifiers.org/medgen/52453 ;   http://identifiers.org/mesh/D013106 ;   http://identifiers.org/snomedct/238028008 ;   http://linkedlifedata.com/resource/umls/id/C0037899 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1875237176 ;   sphingolipidoses
Alternate IDs: MONDO:0019255
Xrefs: DOID:1927 ;   GARD:7672 ;   MEDGEN:52453 ;   MESH:D013106 ;   NCI:C117254 ;   ORDO:79225 ;   SCTID:238028008 ;   UMLS:C0037899 ;   icd11.foundation:1875237176
see_also: https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis" xsd:anyURI {source="GARD:0007672
Definition Sources: NCIT:P378, PMID:21502308

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