Hermansky-Pudlak syndrome 3

Term ID

DOID:0060541

Synonyms

Definition

A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. http://omim.org/entry/614072

References

• OMIM:614072

Ontology

Human Disease   ( DOID:0060541 )