Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
closeMatch

http://linkedlifedata.com/resource/umls/id/C1425796

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 HPS6 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060544

http://identifiers.org/omim/614075

http://linkedlifedata.com/resource/umls/id/C3888007

http://purl.obolibrary.org/obo/NCIT_C150369

has exact synonym

HPS6 Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome type 6

Hermansky-Pudlak syndrome caused by mutation in HPS6

Hermansky-Pudlak syndrome 6

id

MONDO:0013558