| Disease name / term | Definition / notes | MONDO ID | Related ontology / disease IDs mentioned in evidence | Orphanet / OMIM IDs explicitly present in current evidence | Guideline / classification placement | Evidence / Source (with URL, year) |
|---|---|---|---|---|---|---|
| Heritable pulmonary arterial hypertension (HPAH) | Distinct subgroup of PAH; includes familial cases and sporadic cases with an underlying (likely) pathogenic variant in a PAH-predisposing gene; approximately 3% of all PAH cases in the cited classification review | MONDO_0017148 | Related PAH ontology IDs in current evidence: EFO_0001361 (pulmonary arterial hypertension); related disease in evidence: MONDO_0024533 (pulmonary hypertension, primary, 1) | Orphanet: not retrieved in current evidence; OMIM: not retrieved in current evidence | Group 1 PH, subgroup 1.2 (HPAH retained in current classification) | Kovacs et al., *Eur Respir J* 2024, https://doi.org/10.1183/13993003.01324-2024; Eichstaedt et al., *Eur Respir J* 2023, https://doi.org/10.1183/13993003.01471-2022; Open Targets disease association context (pqac-00000010, pqac-00000002, pqac-00000000) |
| Pulmonary arterial hypertension (PAH) | Rare, severe pulmonary vascular disease with obliteration/remodeling of small pulmonary vessels, increased pulmonary vascular resistance, progressive elevation of pulmonary artery pressure, and right-heart failure risk | not retrieved in current evidence | EFO_0001361 | Orphanet: not retrieved in current evidence; OMIM: not retrieved in current evidence | Group 1 pulmonary hypertension | Eichstaedt et al., *Eur Respir J* 2023, https://doi.org/10.1183/13993003.01471-2022; Kovacs et al., *Eur Respir J* 2024, https://doi.org/10.1183/13993003.01324-2024 (pqac-00000001, pqac-00000009) |
| Pulmonary hypertension, primary, 1 | Related disease entity linked in current evidence resources; included here because it is explicitly returned as a related MONDO disease in evidence supporting PAH/HPAH gene associations | MONDO_0024533 | Related to HPAH/PAH evidence context | Orphanet: not retrieved in current evidence; OMIM: not retrieved in current evidence | not retrieved in current evidence | Open Targets disease-target association context for PAH/HPAH, showing related disease entity “pulmonary hypertension, primary, 1” (pqac-00000000) |


*Table: This table summarizes the key disease names, identifiers, and classification terms for heritable pulmonary arterial hypertension that were explicitly supported in the retrieved evidence. It is useful for normalizing nomenclature and ontology mappings for a disease knowledge base entry.*