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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | von Willebrand Disease, Type 2N | |
| Synonyms |
von Willebrand Disease Normandy Variant von Willebrand Disease, Type 2N |
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| Definitions |
An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131689 |
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| ALT_DEFINITION |
An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF.
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| code |
C131689
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD
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| DEFINITION |
An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF.
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| FULL_SYN |
von Willebrand Disease Normandy Variant von Willebrand Disease, Type 2N
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| label |
von Willebrand Disease, Type 2N
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| Preferred_Name |
von Willebrand Disease, Type 2N
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| prefixIRI |
Thesaurus:C131689
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C1282975
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| subClassOf |
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