loading...| Preferred Name | lysosomal lipid storage disorder | |
| Synonyms |
lipidoses lipidosis lipoidoses lipoidosis lipoid storage diseas inborn lipid storage disorder lipid storage disease rare inborn error of lipid storage lipoid storage disorder inborn error of lipid storage lipoid storage disease |
|
| 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 |
Orphanet:79204 MESH:D008064 UMLS:C0023794 MEDGEN:9780 SCTID:10741005 DOID:9455 GARD:12511 ICD9:272.7 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. |
|
| disease disrupts | ||
| has_exact_synonym |
lipoid storage diseas inborn lipid storage disorder lipid storage disease rare inborn error of lipid storage lipoid storage disorder inborn error of lipid storage lipoid storage disease |
|
| has_related_synonym |
lipidoses lipidosis lipoidoses lipoidosis |
|
| id |
MONDO:0019245 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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 lipid storage disorder |
|
| notation |
MONDO:0019245 |
|
| preferred label |
lysosomal lipid storage disorder |
|
| 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 |
|
| subClassOf | ||
| excluded_subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019245 | MONDO | 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 | MONDO | 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 |