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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | von Willebrand Disease, Type 2A | |
| Synonyms |
von Willebrand Disease, Type 2A |
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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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#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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| Concept_In_Subset | ||
| 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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| FULL_SYN |
von Willebrand Disease, Type 2A
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| label |
von Willebrand Disease, Type 2A
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| Preferred_Name |
von Willebrand Disease, Type 2A
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| prefixIRI |
Thesaurus:C131686
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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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