Human Disease Ontology 123

Last uploaded: September 28, 2023

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	OMIM:246700 UMLS_CUI:C0795956 ICD10CM:E78.3 MESH:C535460 ORDO:71 SNOMEDCT_US_2022_09_01:702364003 GARD:9683
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.
disease has basis in	http://purl.obolibrary.org/obo/SO_0001537
has exact synonym	CMRD Anderson disease
has_obo_namespace	disease_ontology
id	DOID:0060357
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	chylomicron retention disease
notation	DOID:0060357
prefLabel	chylomicron retention disease
subClassOf	http://purl.obolibrary.org/obo/DOID_3146

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/246700	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C535460	Medical Subject Headings	LOOM