loading...| Preferred Name |
chylomicron retention disease |
|
| Synonyms |
CMRD |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060357 |
|
| created by |
elvira |
|
| creation_date |
2015-08-20T12:44:44Z |
|
| database_cross_reference |
MESH:C535460 UMLS_CUI:C0795956 OMIM:246700 SNOMEDCT_US_2023_03_01:702364003 ICD10CM:E78.3 GARD:9683 ORDO:71 |
|
| disease has basis in | ||
| has exact synonym |
CMRD Anderson disease |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060357 |
|
| in_subset | ||
| label |
chylomicron retention disease |
|
| notation |
DOID:0060357 |
|
| prefLabel |
chylomicron retention disease |
|
| textual 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. |
|
| subClassOf |