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Standards Ontologies Notations
familial hypobetalipoproteinemia 1

Summary
Synonym
  • FHBL1
Definition
A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.
Super Class
hypobetalipoproteinemia
External Links
Disease Ontology
DOID:0111062
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1946 EFNA5 ephrin A5
7941 PLA2G7 phospholipase A2 group VII
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P52803 Ephrin-A5
Q13093 Platelet-activating factor acetylhydrolase
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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: August 19, 2024