Details of Disease

General Information of Disease (ID: DIS30IDN)

Disease Name Hermansky-Pudlak syndrome 11
Synonyms Hermansky-Pudlak syndrome; HPS11
Disease Hierarchy
DISCY0HQ: Hermansky-Pudlak syndrome
DIS30IDN: Hermansky-Pudlak syndrome 11
Disease Identifiers
MONDO ID
MONDO_0030903
UMLS CUI
C5436936
OMIM ID
619172
MedGen ID
1727728

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BLOC1S5 OTE3LL6Q Strong Autosomal recessive [1]
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References

1 BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22.