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 |
|
| altLabel |
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 |
|
| 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 |
|
| label |
lysosomal lipid storage disorder |
|
| prefixIRI |
MONDO:0019245 |
|
| prefLabel |
lysosomal lipid storage disorder |
|
| textual 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. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019245 | MONDO | SAME_URI | |
| 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 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019245 | MONDO | LOOM | |
| 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 | KTAO | LOOM |