JSON

lysosomal storage disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0002561

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 ]

Synonyms: lysosome disorder disorder of lysosomal enzymes disorder of lysosomal enzyme lysosomal storage metabolism disorder lysosome disease lysosomal disorder inborn lysosomal enzyme disorder lysosomal storage disorder lysosomal disease

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:43098 (MONDO:equivalentTo)
  • icd11.foundation:656131403 (https://orcid.org/0000-0001-5208-3432)
  • Orphanet:68366 (MONDO:equivalentTo)
  • DOID:3211 (MONDO:equivalentTo)
  • UMLS:C0085078 (MONDO:equivalentTo)
  • NANDO:1200055 (https://orcid.org/0000-0003-0011-764X)
  • GARD:18884 (MONDO:GARD)
  • MESH:D016464 (MONDO:equivalentTo)
  • NANDO:2100165 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C61250 (MONDO:equivalentTo)
  • SCTID:23585005 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, clingen, ordo_group_of_disorders

conformsTo

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

exactMatch

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

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

http://identifiers.org/mesh/D016464

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

http://identifiers.org/medgen/43098

http://identifiers.org/snomedct/23585005

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

has related synonym

phospholipidosis

id

MONDO:0002561