/Hermansky-Pudlak syndrome 8

Hermansky-Pudlak syndrome 8

Rare Disease

MONDO:0013560

Also Known As

BLOC1S3 Hermansky-Pudlak syndromeHPS8Hermansky-Pudlak syndrome 8Hermansky-Pudlak syndrome caused by mutation in BLOC1S3Hermansky-Pudlak syndrome type 8

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

BLOC1S3 ↗

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

External Resources

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Hermansky-Pudlak syndrome 8

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases