Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: GP VI deficiency glycoprotein VI deficiency inherited bleeding disorder, platelet-type caused by mutation in GP6 BDPLT11 GP6 inherited bleeding disorder, platelet-type platelet-type bleeding disorder 11
Term information
- UMLS:C3280120 (OMIM:614201)
- Orphanet:98885 (OMIM:614201)
- GARD:13293 (Orphanet:98885)
- SCTID:765977002 (MONDO:equivalentTo)
- DOID:0111057 (MONDO:equivalentTo)
- OMIM:614201 (Orphanet:98885/e)
gard_rare, rare, nord_rare, orphanet_rare, clingen, ordo_etiological_subtype
https://omim.org/entry/614201
http://identifiers.org/snomedct/765977002
http://linkedlifedata.com/resource/umls/id/C3280120
http://www.orpha.net/ORDO/Orphanet_98885
http://purl.obolibrary.org/obo/DOID_0111057
bleeding disorder, platelet-type, 11
bleeding diathesis due to glycoprotein VI deficiency
platelet-type bleeding disorder-11
GP 6 deficiency
glycoprotein 6 deficiency