familial hypobetalipoproteinemia 2 - Ontology Browser

Ontology Browser

familial hypobetalipoproteinemia 2 (DOID:0111061)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)

Parent Terms

Term With Siblings

Child Terms

abetalipoproteinemia +

chylomicron retention disease

familial hypobetalipoproteinemia 1

familial hypobetalipoproteinemia 2

A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)

Familial Hypobetalipoproteinemia, Apolipoprotein B +

Nguyen Syndrome

Synonyms
Exact Synonyms:	Fhbl2 ; HYPOLIPIDEMIA, FAMILIAL, COMBINED
Primary IDs:	MESH:C565732
Alternate IDs:	OMIM:605019 ; RDO:0014290
Definition Sources:	https://www.ncbi.nlm.nih.gov/pubmed/20942659 "DO" "DO"

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