| Metadata | |
|---|---|
| ID | DOID:0111420 |
| Name | familial GPIHBP1 deficiency |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/17883852, https://www.ncbi.nlm.nih.gov/pubmed/23525082 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency [EXACT] hyperlipoproteinemia type 1D [EXACT] hyperlipoproteinemia type ID [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |