Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
HPS10 [ MONDOLEX:0014885 https://omim.org/entry/617050 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.

exactMatch

http://identifiers.org/omim/617050

http://linkedlifedata.com/resource/umls/id/C4310746

has exact synonym

Hermansky-Pudlak syndrome type 10

HPS10

Hermansky-Pudlak syndrome 10

Hermansky-Pudlak syndrome 10; HPS10

Hermansky-Pudlak syndrome caused by mutation in AP3D1

AP3D1 Hermansky-Pudlak syndrome

id

MONDO:0014885