loading...| Preferred Name |
chylomicron retention disease |
|
| Synonyms |
chylomicron retention disease CMRD Anderson disease CRD hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells lipid Transport defect of intestine |
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| Definitions |
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009528 |
|
| database_cross_reference |
Orphanet:71 MESH:C535460 SCTID:702364003 GARD:9683 UMLS:C0795956 DOID:0060357 OMIM:246700 |
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| definition |
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. |
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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_71 http://identifiers.org/mesh/C535460 http://linkedlifedata.com/resource/umls/id/C0795956 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
chylomicron retention disease CMRD Anderson disease CRD |
|
| has_related_synonym |
hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells lipid Transport defect of intestine |
|
| id |
MONDO:0009528 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
chylomicron retention disease |
|
| notation |
MONDO:0009528 |
|
| prefLabel |
chylomicron retention disease |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease |
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| treeView | ||
| excluded subClassOf | ||
| subClassOf |