Familial Apolipoprotein A5 Deficiency
Disease ID: disease_node_16847
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| Dbxref | MIM:144650, ORDO:530849 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111417 |
| Data Source | DOID |
| Synonyms | familial APOA5 deficiency, familial apolipoprotein A-V deficiency |
| Doid Label | familial apolipoprotein A5 deficiency |
| Doid Description | A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16847 |
| Doid Id | DOID_0111421 |
| Label | Familial Apolipoprotein A5 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Familial Chylomicronemia Syndrome(ID:disease_node_16845) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)