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familial hypobetalipoproteinemia 2 | RareConnect | RareConnect.io

/hypobetalipoproteinemia

/familial hypobetalipoproteinemia 2

familial hypobetalipoproteinemia 2

Rare Disease

MONDO:0011505

Also Known As

ANGPTL3 hypobetalipoproteinemiaFHBL2combined familial hypolipidemiafamilial hypobetalipoproteinemia 2familial hypobetalipoproteinemia type 2hypobetalipoproteinemia caused by mutation in ANGPTL3hypobetalipoproteinemia, familial, type 2hypobetalipoproteinemia, familial, 2hypolipidemia, familial, combined

Definition

Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:605019 ↗

GARD

Related Diseases

abetalipoproteinemia

MONDO:0008692

chylomicron retention disease

MONDO:0009528

familial hypobetalipoproteinemia 1

MONDO:0014252

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