loading...| Preferred Name | lysosomal lipid storage disorder | |
| Synonyms |
lipidoses lipidosis lipoidoses lipoidosis lipid storage disease lipoid storage disorder rare inborn error of lipid storage inborn error of lipid storage lipoid storage diseas lipoid storage disease inborn lipid storage disorder |
|
| Definitions |
An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019245 |
|
| database_cross_reference |
MESH:D008064 MEDGEN:9780 UMLS:C0023794 GARD:12511 ICD9:272.7 Orphanet:79204 DOID:9455 SCTID:10741005 ICD9:272.8 |
|
| definition |
An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. |
|
| has_exact_synonym |
lipid storage disease lipoid storage disorder rare inborn error of lipid storage inborn error of lipid storage lipoid storage diseas lipoid storage disease inborn lipid storage disorder |
|
| has_related_synonym |
lipidoses lipidosis lipoidoses lipoidosis |
|
| id |
MONDO:0019245 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
lysosomal lipid storage disorder |
|
| notation |
MONDO:0019245 |
|
| prefLabel |
lysosomal lipid storage disorder |
|
| skos_exactMatch |
http://identifiers.org/mesh/D008064 http://identifiers.org/snomedct/10741005 http://identifiers.org/medgen/9780 http://purl.obolibrary.org/obo/Orphanet_79204 |
|
| terms_conformsTo |
http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
|
| treeView | ||
| excluded subClassOf | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019245 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | DOVES | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | KTAO | LOOM |