Hyperlipoproteinemia Type I
Disease ID: disease_node_4796
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| Dbxref | MESH:D008072, MIM:207750, ORDO:309020, SNOMEDCT_US_2023_03_01:33513003, UMLS_CUI:C0268199, UMLS_CUI:C1720779 |
|---|---|
| Subclassof | DOID_0050737, DOID_0111417 |
| Data Source | DOID, MESH |
| Synonyms | C-II anapolipoproteinemia, familial APOC2 deficiency, familial apoC-II deficiency, hyperlipoproteinemia, type 1b, hyperlipoproteinemia, type Ib |
| Mesh Id | D008072 |
| Mesh Label | Hyperlipoproteinemia Type I |
| Mesh Subclassof | D008052, D006951 |
| Doid Label | familial apolipoprotein C-II deficiency |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_4796 |
| Doid Id | DOID_0111418 |
| Label | Hyperlipoproteinemia Type I |
- Outgoing r'ship
SUBCLASS_OFto/from Familial Chylomicronemia Syndrome(ID:disease_node_16845) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)