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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | von Willebrand Disease, Type 2A | |
| Synonyms |
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| Definitions |
An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2'). |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C131686 |
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| ALT_DEFINITION |
An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2').
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| code |
C131686
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| Contributing_Source |
NICHD
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| definition |
An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2').
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| in_subset | ||
| label |
von Willebrand Disease, Type 2A
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| Preferred_Name |
von Willebrand Disease, Type 2A
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| prefixIRI |
NCIT:C131686
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| prefLabel |
von Willebrand Disease, Type 2A
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C1282968
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| subClassOf |
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