A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. [ http://www.ncbi.nlm.nih.gov/pubmed/21723623 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN205533 (MONDO:equivalentTo)
  • NCIT:C61250 (MONDO:equivalentTo)
  • SCTID:23585005 (MONDO:equivalentTo)
  • UMLS:C0085078 (NCIT:C61250)
  • DOID:3211 (MONDO:equivalentTo)
  • MESH:D016464 (MONDO:equivalentTo)
  • Orphanet:68366 (MONDO:equivalentTo)
Subsets

ordo_group_of_disorders

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61250

http://linkedlifedata.com/resource/umls/id/CN205533

http://purl.obolibrary.org/obo/DOID_3211

http://identifiers.org/mesh/D016464

http://linkedlifedata.com/resource/umls/id/C0085078

http://identifiers.org/snomedct/23585005

http://www.orpha.net/ORDO/Orphanet_68366

has exact synonym

lysosome disorder

disorder of lysosomal enzymes

lysosomal storage metabolism disorder

disorder of lysosomal enzyme

lysosome disease

lysosomal disorder

inborn lysosomal enzyme disorder

lysosomal storage disorder

lysosomal disease

has related synonym

phospholipidosis

id

MONDO:0002561