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

This is just here as a test because I lose it

Term information

database cross reference
  • 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)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen, ordo_etiological_subtype

exactMatch

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

has related synonym

bleeding disorder, platelet-type, 11

bleeding diathesis due to glycoprotein VI deficiency

platelet-type bleeding disorder-11

GP 6 deficiency

glycoprotein 6 deficiency

id

MONDO:0013623

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013623

Term relations