loading...| Preferred Name | lysosomal storage disease | |
| Synonyms |
inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disorder of lysosomal enzyme |
|
| Definitions |
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3211 |
|
| alternative label |
inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disorder of lysosomal enzyme |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:23585005 UMLS_CUI:C0085078 MESH:D016464 NCI:C61250 |
|
| definition |
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
|
| has exact synonym |
inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disorder of lysosomal enzyme |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3211 |
|
| in_subset | ||
| label |
lysosomal storage disease |
|
| notation |
DOID:3211 |
|
| note |
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
|
| preferred label |
lysosomal storage disease |
|
| prefLabel |
lysosomal storage disease |
|
| subClassOf |