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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Hermansky-Pudlak syndrome 8
Summary
- Definition
- A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
- Super Class
- Hermansky-Pudlak syndrome
External Links
- Disease Ontology
- DOID:0060546
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
