FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

familial apolipoprotein C-II deficiency
Synonyms
Definitions

A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.

ID

http://purl.obolibrary.org/obo/DOID_0111418

definition

A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

familial apolipoprotein C-II deficiency

prefixIRI

DOID:0111418

prefLabel

familial apolipoprotein C-II deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_0111417

http://purl.obolibrary.org/obo/DOID_0050737

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