1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| BMPR2 | 2q33.1-q33.2 | 600799 | Fd | Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3) | 178600 | 3 |
| BMPR2 | 2q33.1-q33.2 | 600799 | Fd | Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3) | 178600 | 3 |
| BMPR2 | 2q33.1-q33.2 | 600799 | Fd | Pulmonary venoocclusive disease 1, 265450 (3) | 265450 | 3 |