familial hypobetalipoproteinemia 2

Summary
Synonym
  • FHBL2
  • combined familial hypolipidemia
Definition
A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.
Super Class
hypobetalipoproteinemia
Disease Ontology
DOID:0111061
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
338 APOB apolipoprotein B
27329 ANGPTL3 angiopoietin like 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30924 Angptl3 angiopoietin-like 3
238055 Apob apolipoprotein B
Displaying 1 entry
Gene ID Gene Symbol Description Source
54225 Apob apolipoprotein B
Displaying 1 entry
Gene ID Gene Symbol Description Source
36411 sca scabrous

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024