CHYLOMICRON RETENTION DISEASE

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

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

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

CMRD

ANDERSON DISEASE

ANDD

LIPID TRANSPORT DEFECT OF INTESTINE

C0795956

5q31.1

ANDD

SAR1B

CMRD

SARA2

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.

607689

607692

246700

3

pound

CHYLOMICRON RETENTION DISEASE

Onset in infancy [MISCELLANEOUS]

Caused by mutation in the SAR1, S. cerevisiae, homolog B gene (SAR1B, 607690.0001) [MOLECULAR BASIS]

T047