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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | von Willebrand Disease, Type 2M | |
| 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 shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C131688 |
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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 shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium.
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| code |
C131688
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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 shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium.
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| in_subset | ||
| label |
von Willebrand Disease, Type 2M
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| Preferred_Name |
von Willebrand Disease, Type 2M
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| prefixIRI |
NCIT:C131688
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| prefLabel |
von Willebrand Disease, Type 2M
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C1282974
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| subClassOf |
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