loading...| Preferred Name |
lysosomal storage disease |
|
| Synonyms |
lysosomal disorder disorder of lysosomal enzyme lysosome disease disorder of lysosomal enzymes lysosomal disease lysosomal storage disorder lysosomal storage metabolism disorder lysosome disorder inborn lysosomal enzyme disorder phospholipidosis |
|
| 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 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml |
|
| database_cross_reference |
UMLS:C0085078 UMLS:CN205533 NCIT:C61250 Orphanet:68366 MESH:D016464 DOID:3211 SCTID:23585005 |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C61250 http://identifiers.org/mesh/D016464 http://linkedlifedata.com/resource/umls/id/C0085078 http://purl.obolibrary.org/obo/DOID_3211 http://identifiers.org/snomedct/23585005 |
|
| has exact synonym |
lysosomal disorder disorder of lysosomal enzyme lysosome disease disorder of lysosomal enzymes lysosomal disease lysosomal storage disorder lysosomal storage metabolism disorder lysosome disorder inborn lysosomal enzyme disorder |
|
| has related synonym |
phospholipidosis |
|
| id |
MONDO:0002561 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
lysosomal storage disease |
|
| notation |
MONDO:0002561 |
|
| prefLabel |
lysosomal storage disease |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000001 |