| Concept | Identifier system | ID | Notes | Key supporting citation |
|---|---|---|---|---|
| Hermansky-Pudlak syndrome | MONDO | MONDO_0019312 | Main disease entry in OpenTargets evidence; associated with 12 targets including HPS1, HPS4, AP3B1, HPS3, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S5, BLOC1S6, AP3D1. | (pqac-00000008) |
| Hermansky-Pudlak syndrome with pulmonary fibrosis | MONDO | MONDO_0016501 | Subgroup in OpenTargets evidence linked to pulmonary-fibrosis-associated targets HPS4, HPS1, AP3B1. Terminology aligns with HPS pulmonary fibrosis / HPS-PF. | (pqac-00000008) |
| Hermansky-Pudlak syndrome without pulmonary fibrosis | MONDO | MONDO_0016502 | Subgroup in OpenTargets evidence linked to non-PF-associated targets such as HPS3, HPS5, HPS6. | (pqac-00000008) |
| Hermansky-Pudlak syndrome 10 | MONDO | MONDO_0014885 | Subtype entry in OpenTargets evidence associated with AP3D1. | (pqac-00000008) |
| Hermansky-Pudlak syndrome 11 | MONDO | MONDO_0030903 | Subtype entry in OpenTargets evidence associated with BLOC1S5. | (pqac-00000008) |
| Hermansky-Pudlak syndrome | Preferred disease name / synonym | HPS | Major shorthand abbreviation used across reviews and trials. | (pqac-00000000, pqac-00000001, pqac-00000038) |
| Hermansky–Pudlak syndrome | Preferred disease name / synonym | — | Standard full disease name; described as a rare autosomal recessive disorder. | (pqac-00000005, pqac-00000022) |
| HPS pulmonary fibrosis | Disease feature / synonym | HPS-PF | Common term for pulmonary fibrosis occurring in HPS, especially HPS-1, HPS-2, and HPS-4. | (pqac-00000001, pqac-00000002, pqac-00000023) |
| HPS-associated pulmonary fibrosis | Disease feature / synonym | HPS-PF (descriptive synonym) | Used in recent literature for the fibrotic lung manifestation; interchangeable with HPS pulmonary fibrosis in context. | (pqac-00000023, pqac-00000025) |
| Inheritance | Inheritance pattern | Autosomal recessive | Consistently described across reviews and natural history sources. | (pqac-00000000, pqac-00000005, pqac-00000022) |
| OMIM identifier | OMIM | Not found in gathered evidence | Requested identifier system, but no specific OMIM disease ID was retrieved in available evidence. | (pqac-00000020, pqac-00000022) |
| Orphanet identifier | Orphanet | Not found in gathered evidence | Requested identifier system, but no specific Orphanet ID was retrieved in available evidence. | (pqac-00000021, pqac-00000023) |
| ICD-10 / ICD-11 identifier | ICD | Not found in gathered evidence | Requested identifier system, but no specific ICD code was retrieved in available evidence. | (pqac-00000021, pqac-00000023) |
| MeSH identifier | MeSH | Not found in gathered evidence | Requested identifier system, but no specific MeSH ID was retrieved in available evidence. | (pqac-00000021, pqac-00000023) |


*Table: This table summarizes the disease naming and identifier information for Hermansky-Pudlak syndrome using only evidence gathered in the session. It is useful for quickly mapping MONDO terms, common synonyms, inheritance, and identifier gaps that still need confirmation from external databases.*