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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Hermansky-Pudlak syndrome 2
Summary
- Definition
- A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
- Super Class
- Hermansky-Pudlak syndrome
External Links
- Disease Ontology
- DOID:0060540
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
