eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hermansky pudlak syndrome |
| Comorbidity | C0027947|neutropenia |
| Sentences | 1 |
| PubMedID- 21595885 | This is similar to the situation in several clinical disorders comprising albinism and neutropenia and characteristic of the hermansky-pudlak syndrome type 2 (ap3 defect), ap14 deficiency [78] (ap14 is a protein with similar functions to ap3), chediak-higashi syndrome and griscelli's syndrome (the latter two entities also involve a macrophage activation syndrome in addition to neutropenia) [114]. |
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