loading...| Preferred Name |
Chylomicron retention disease |
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| Synonyms |
CMRD |
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| 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. |
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| ID |
http://identifiers.org/omim/246700 |
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| altLabel |
CMRD |
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| 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. |
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| id |
OMIM:246700 |
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| notation |
OMIM:246700 |
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| prefLabel |
Chylomicron retention disease |
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| subClassOf |