Terminology Service for NFDI4Health
lysosomal storage disease
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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 ]
Term info
Label
lysosomal storage disease
Synonyms
- disorder of lysosomal enzyme
- disorder of lysosomal enzymes
- inborn lysosomal enzyme disorder
- lysosomal disease
- lysosomal disorder
- lysosomal storage disorder
- lysosomal storage metabolism disorder
- lysosome disease
- lysosome disorder
Subsets
disease_grouping, ordo_group_of_disorders
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://purl.obolibrary.org/obo/Orphanet_68366, http://identifiers.org/snomedct/23585005
has related synonym
phospholipidosis
id
MONDO:0002561