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 |
|
| database_cross_reference |
UMLS:C0085078 GARD:18884 icd11.foundation:656131403 NCIT:C61250 Orphanet:68366 MESH:D016464 DOID:3211 SCTID:23585005 |
|
| 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. |
|
| 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/Orphanet_68366 |
|
| 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 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
lysosomal storage disease |
|
| notation |
MONDO:0002561 |
|
| prefLabel |
lysosomal storage disease |
|
| subClassOf |