Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CHYLOMICRON RETENTION DISEASE
Synonyms

CMRD
ID

http://purl.bioontology.org/ontology/OMIM/246700
altLabel

CMRD

HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKE PROTEIN IN INTESTINAL CELLS

ANDERSON DISEASE

LIPID TRANSPORT DEFECT OF INTESTINE

ANDD
cui

C0795956
Gene Locus

5q31.1
Gene Symbol

CMRD

SAR1B

SARA2

ANDD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU014870

http://purl.bioontology.org/ontology/OMIM/MTHU026058

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU026056

http://purl.bioontology.org/ontology/OMIM/MTHU009718

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU026064

http://purl.bioontology.org/ontology/OMIM/MTHU026062

http://purl.bioontology.org/ontology/OMIM/MTHU026060

http://purl.bioontology.org/ontology/OMIM/MTHU026066

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU019464

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU026065

http://purl.bioontology.org/ontology/OMIM/MTHU026059

http://purl.bioontology.org/ontology/OMIM/MTHU026057

http://purl.bioontology.org/ontology/OMIM/MTHU009711

http://purl.bioontology.org/ontology/OMIM/MTHU026063

http://purl.bioontology.org/ontology/OMIM/MTHU026061

http://purl.bioontology.org/ontology/OMIM/MTHU028170

http://purl.bioontology.org/ontology/OMIM/MTHU000387
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

607692

607689
notation

246700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHYLOMICRON RETENTION DISEASE
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060357 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E78.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C535460 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535460 Medical Subject Headings LOOM