OBO ID: DOID:0111061
Term Name: familial hypobetalipoproteinemia 2 Search Ontology:
Synonyms:
  • combined familial hypolipidemia
  • FHBL2
Definition: A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/20942659
References:
Ontology: Human Disease   ( DOID:0111061 )
Relationships
is a type of:
disjoint_from:
OTHER familial hypobetalipoproteinemia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANGPTL3 Hypobetalipoproteinemia, familial, 2 605019
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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