| Metadata | |
|---|---|
| ID | DOID:0111903 |
| Name | thrombophilia due to HRG deficiency |
| Definition | A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. https://pubmed.ncbi.nlm.nih.gov/8236132/, https://pubmed.ncbi.nlm.nih.gov/9414276/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [EXACT] hereditary thrombophilia due to congenital HRG deficiency [EXACT] THPH11 [EXACT] |
| Parent Relationships |
is_a thrombophilia |