/Hermansky-Pudlak syndrome 9

Hermansky-Pudlak syndrome 9

Rare Disease

MONDO:0013606

Also Known As

BLOC1S6 Hermansky-Pudlak syndromeHPS9Hermansky-Pudlak syndrome 9Hermansky-Pudlak syndrome caused by mutation in BLOC1S6Hermansky-Pudlak syndrome type 9

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.

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Associated Genes

BLOC1S6 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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Hermansky-Pudlak syndrome 9

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases