loading...| Preferred Name |
Chylomicron retention disease |
|
| Synonyms |
CMRD |
|
| 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://www.orpha.net/ORDO/Orphanet_71 |
|
| alternative_term |
CMRD CRD Anderson disease |
|
| 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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 |
|
| has_age_of_onset |
Childhood Infancy |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C0795956 MeSH:C535460 ICD-11:5C81.1 ICD-10:E78.6 OMIM:246700 |
|
| label |
Chylomicron retention disease |
|
| notation |
ORPHA:71 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_31154 |
|
| prefixIRI |
ORDO:Orphanet_71 |
|
| prefLabel |
Chylomicron retention disease |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 55.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_31154 |
|
| subClassOf |