loading...| Preferred Name |
lysosomal storage disease |
| Synonyms |
lysosomal disorder disorder of lysosomal enzymes lysosomal storage metabolism disorder phospholipidosis lysosome disorder disorder of lysosomal enzyme lysosomal storage disorder lysosome disease lysosomal disease inborn lysosomal enzyme disorder |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0002561 |
| database_cross_reference |
SCTID:23585005 UMLS:CN205533 MESH:D016464 UMLS:C0085078 Orphanet:68366 NCIT:C61250 DOID:3211 |
| 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://identifiers.org/mesh/D016464 http://linkedlifedata.com/resource/umls/id/C0085078 http://identifiers.org/snomedct/23585005 http://purl.obolibrary.org/obo/DOID_3211 http://linkedlifedata.com/resource/umls/id/CN205533 |
| has_exact_synonym |
lysosomal disorder disorder of lysosomal enzymes lysosomal storage metabolism disorder lysosome disorder disorder of lysosomal enzyme lysosomal storage disorder lysosome disease lysosomal disease inborn lysosomal enzyme disorder |
| has_related_synonym |
phospholipidosis |
| id |
MONDO:0002561 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
| label |
lysosomal storage disease |
| notation |
MONDO:0002561 |
| prefLabel |
lysosomal storage disease |
| treeView | |
| subClassOf |