Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 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_disease

abbreviation
BDPLT20 [ https://omim.org/entry/616913 DOID:0111055 ]

conformsTo

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

definition

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4310797

http://purl.obolibrary.org/obo/DOID_0111055

http://www.orpha.net/ORDO/Orphanet_466806

http://identifiers.org/omim/616913

has exact synonym

bleeding disorder, platelet-type, 20

inherited bleeding disorder, platelet-type caused by mutation in SLFN14

SLFN14 inherited bleeding disorder, platelet-type

BDPLT20

autosomal dominant thrombocytopenia with platelet secretion defect

id

MONDO:0014830