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DO Term : familial apolipoprotein C-II deficiency [DOID:0111418] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 207750,
  • UMLS_CUI:C1720779,
  • C-II anapolipoproteinemia,
  • UMLS_CUI:C0268199,
  • ORDO:309020,
  • SNOMEDCT_US_2023_03_01:33513003,
  • MESH:D008072,
  • OMIM:207750,
  • familial APOC2 deficiency,
  • familial apoC-II deficiency,
  • hyperlipoproteinemia, type Ib,
  • hyperlipoproteinemia, type 1b
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents