Hermansky-Pudlak syndrome 2 (Q26695314)
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A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
- Platelet defects and oculocutaneous albinism
- Hermansky-Pudlak syndrome type 2
- HERMANSKY-PUDLAK SYNDROME 2; HPS2
- Hermansky Pudlak syndrome 2
- Hermansky-Pudlak syndrome with neutropenia
- HERMANSKY-PUDLAK SYNDROME 2
- HPS2
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Hermansky-Pudlak syndrome 2 |
A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. |
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C150368
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