Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_clinical_subtype

abbreviation
HPS7 [ MONDO:Lexical https://omim.org/entry/614076 Orphanet:231531 ]

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 DTNBP1 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060545

http://www.orpha.net/ORDO/Orphanet_231531

http://linkedlifedata.com/resource/umls/id/C3279756

http://identifiers.org/omim/614076

has exact synonym

DTNBP1 Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome 7

Hermansky-Pudlak syndrome caused by mutation in DTNBP1

Hermansky-Pudlak syndrome type 7

HPS7

id

MONDO:0013559