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sphingolipidosis

^ http://purl.obolibrary.org/obo/MONDO_0019255

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [ NCIT:P378 PMID:21502308 ]

Term info

database cross reference
  • NCIT:C117254 (MONDO:equivalentTo)
  • GARD:0007672 (MONDO:equivalentTo)
  • UMLS:C0037899 (Orphanet:79225/e)
  • MESH:D013106 (Orphanet:79225/e)
  • DOID:1927 (MONDO:equivalentTo)
  • Orphanet:79225 (MONDO:equivalentTo)
  • SCTID:238028008 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

definition

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

exactMatch

http://identifiers.org/snomedct/238028008, http://purl.obolibrary.org/obo/NCIT_C117254, http://purl.obolibrary.org/obo/Orphanet_79225, http://purl.obolibrary.org/obo/DOID_1927, http://identifiers.org/mesh/D013106, http://linkedlifedata.com/resource/umls/id/C0037899

has exact synonym

sphingolipidoses

id

MONDO:0019255

seeAlso

https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis

Term relations