About: platelet-type bleeding disorder 3     Goto   Sponge   NotDistinct   Permalink

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A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has material basis in mutation in the GP1BA gene on chromosome 17p13.2.

AttributesValues
rdf:type
description
  • A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has material basis in mutation in the GP1BA gene on chromosome 17p13.2. (en)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0008332
Disease Ontology ID
  • DOID:0111056
rdfs:label
  • platelet-type bleeding disorder 3 (en)
skos:prefLabel
  • platelet-type bleeding disorder 3 (en)
name
  • platelet-type bleeding disorder 3 (en)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H02093
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-02415
Orphanet ID
  • 52530
genetic association
ICD-10-CM
  • D69.8
GARD rare disease ID
  • 8312
OMIM ID
  • 177820
skos:altLabel
  • BDPLT3 (en)
  • VWDP (en)
  • Bleeding Disorder, Platelet-Type, 3 (en)
  • PSEUDO-VON WILLEBRAND DISEASE; VWDP (en)
  • PT-VWD (en)
  • Platelet-Type von Willebrand Disease (en)
  • Pseudo-von Willebrand disease type 2B (en)
  • Von Willebrand Disease, Platelet-Type (en)
  • platelet type-von Willebrand disease (en)
  • pseudo-von Willebrand disease (en)
  • von Willebrand disease platelet-type (en)
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
NCI Thesaurus ID
  • C131681
UMLS CUI
  • C1280798
MeSH descriptor ID
  • C536458
on focus list of Wikimedia project
is about of
is genetic association of
is genetic association of
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