loading...| Preferred Name | lysosomal storage disease | |
| Synonyms |
phospholipidosis lysosomal storage disorder disorder of lysosomal enzyme disorder of lysosomal enzymes inborn lysosomal enzyme disorder lysosome disease lysosome disorder lysosomal storage metabolism disorder lysosomal disorder lysosomal disease |
|
| 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 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0002561 |
|
| database_cross_reference |
UMLS:C0085078 MEDGEN:43098 NCIT:C61250 NANDO:1200055 SCTID:23585005 SCTID:28821000119102 MESH:D016464 icd11.foundation:656131403 NANDO:2100165 Orphanet:68366 DOID:3211 GARD:18884 |
|
| 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 http://purl.obolibrary.org/obo/DOID_3211 http://identifiers.org/medgen/43098 http://identifiers.org/snomedct/28821000119102 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/656131403 |
|
| has_exact_synonym |
lysosomal storage disorder disorder of lysosomal enzyme disorder of lysosomal enzymes inborn lysosomal enzyme disorder lysosome disease lysosome disorder lysosomal storage metabolism disorder lysosomal disorder lysosomal disease |
|
| has_related_synonym |
phospholipidosis |
|
| id |
MONDO:0002561 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
lysosomal storage disease |
|
| notation |
MONDO:0002561 |
|
| preferred label |
lysosomal storage disease |
|
| prefLabel |
lysosomal storage disease |
|
| subClassOf |