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Metadata
ID DOID:0111418
Name familial apolipoprotein C-II deficiency
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.
https://www.ncbi.nlm.nih.gov/pubmed/3467353
Xrefs

MESH:D008072

OMIM:207750

ORDO:309020

SNOMEDCT_US_2020_09_01:33513003

UMLS_CUI:C0268199

UMLS_CUI:C1720779

Synonyms

C-II anapolipoproteinemia [EXACT]

familial apoC-II deficiency [EXACT]

familial APOC2 deficiency [EXACT]

hyperlipoproteinemia, type 1b [EXACT]

hyperlipoproteinemia, type Ib [EXACT]

Parent Relationships

is_a familial chylomicronemia syndrome

is_a autosomal recessive disease

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