ZFIN Human Disease: familial apolipoprotein C-II deficiency

OBO ID: DOID:0111418

Term Name:	familial apolipoprotein C-II deficiency		Search Ontology:
Synonyms:	C-II anapolipoproteinemia familial apoC-II deficiency familial APOC2 deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib
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 the APOC2 gene on chromosome 19q13.32. https://www.ncbi.nlm.nih.gov/pubmed/3467353
References:	MESH:D008072 OMIM:207750 ORDO:309020 SNOMEDCT_US_2023_03_01:33513003 UMLS_CUI:C0268199 UMLS_CUI:C1720779
Ontology:	Human Disease ( DOID:0111418 )

Relationships

is a type of:	autosomal recessive disease familial chylomicronemia syndrome autosomal recessive disease familial chylomicronemia syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
APOC2	apoc2	Hyperlipoproteinemia, type Ib	207750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None