Hermansky-Pudlak syndrome 2

Name
Hermansky-Pudlak syndrome 2
Ontological Reference
MONDO:0011997
Name
Hermansky-Pudlak syndrome 2
Ontological Reference
MONDO:0011997
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Clinicalvalidity on Gene-Disease Validity Definitive
Autosomal Recessive 02/26/2020 View report