loading...| Preferred Name |
Chylomicron retention disease |
|
| Synonyms |
|
|
| Definitions |
(CMRD): An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. |
|
| ID |
http://purl.obolibrary.org/obo/OMIM_246700 |
|
| definition |
(CMRD): An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. |
|
| has_obo_namespace |
cell_cycle_ontology |
|
| id |
OMIM:246700 |
|
| label |
Chylomicron retention disease |
|
| notation |
OMIM:246700 |
|
| prefLabel |
Chylomicron retention disease |
|
| treeView | ||
| subClassOf |