familial hypobetalipoproteinemia 2

familial hypobetalipoproteinemia 2

http://purl.obolibrary.org/obo/MONDO_0011505

Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: familial hypobetalipoproteinemia type 2 hypobetalipoproteinemia caused by mutation in ANGPTL3 familial hypobetalipoproteinemia 2 FHBL2 hypobetalipoproteinemia, familial, type 2 combined familial hypolipidemia ANGPTL3 hypobetalipoproteinemia

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C1857970 (OMIM:605019)
MESH:C565732 (MONDO:equivalentTo)
DOID:0111061 (MONDO:equivalentTo)
GARD:15376 (OMIM:605019)
OMIM:605019 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

https://omim.org/entry/605019

http://purl.obolibrary.org/obo/DOID_0111061

http://identifiers.org/mesh/C565732

http://linkedlifedata.com/resource/umls/id/C1857970

has related synonym

hypobetalipoproteinemia, familial, 2

hypolipidemia, familial, combined

MONDO:0011505

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011505

Term relations

Subclass of:

hypobetalipoproteinemia