eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hermansky pudlak syndrome |
| Comorbidity | C0034069|pulmonary fibrosis |
| Sentences | 3 |
| PubMedID- 25379352 | hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications. |
| PubMedID- 21298062 | This conclusion is supported by the observations that mutations that disrupt melanosome biogenesis are frequently associated with both hypo-pigmentation disorders and pulmonary fibrosis in patients with hermansky pudlak syndrome (hps) [32] and lamellar body structure and/or surfactant secretion is affected in several different hps mouse mutants [33]–[37]. |
| PubMedID- 22275791 | hermansky-pudlak syndrome complicated by pulmonary fibrosis. |
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