Hermansky-Pudlak syndrome 8

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Summary

Literature (0)

DOID:0060546 - Hermansky-Pudlak syndrome 8

Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bloc1s3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013560 - Hermansky-Pudlak syndrome 8

MONDO:0013560 - Hermansky-Pudlak syndrome 8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Hermansky-Pudlak syndrome (is_a)