loading...| Preferred Name |
chylomicron retention disease |
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| Synonyms |
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| Definitions |
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060357 |
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| definition |
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. |
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| imported from | ||
| label |
chylomicron retention disease |
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| prefixIRI |
DOID:0060357 |
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| prefLabel |
chylomicron retention disease |
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| subClassOf |