Familial Gpihbp1 Deficiency
Disease ID: disease_node_16848
Connections displayed (default: 10).
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| Dbxref | MIM:615947, ORDO:535458 |
|---|---|
| Subclassof | DOID_0050737, DOID_0111417 |
| Data Source | DOID |
| Synonyms | familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency, hyperlipoproteinemia type 1D, hyperlipoproteinemia type ID |
| Doid Label | familial GPIHBP1 deficiency |
| Doid Description | A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16848 |
| Doid Id | DOID_0111420 |
| Label | Familial Gpihbp1 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Familial Chylomicronemia Syndrome(ID:disease_node_16845) (Disease)