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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | hereditary von Willebrand disease | |
| Synonyms |
von Willebrand's disease congenital von willebrand disease vascular hemophilia von Willebrand disease von Willebrand-Jurgens disease von Willebrand's-Jurgens' disease von Willebrand disorder hereditary von Willebrand disease congenital von willebrand's disease hereditary von Willebrand disease (hereditary or acquired) von Willebrand-Jrgens disease vascular pseudohemophilia |
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| Definitions |
Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019565 |
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| altLabel |
von Willebrand's disease congenital von willebrand disease vascular hemophilia von Willebrand disease von Willebrand-Jurgens disease von Willebrand's-Jurgens' disease von Willebrand disorder hereditary von Willebrand disease congenital von willebrand's disease hereditary von Willebrand disease (hereditary or acquired) von Willebrand-Jrgens disease vascular pseudohemophilia
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| definition |
Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).
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| has_broad_synonym |
vascular hemophilia von Willebrand disease von Willebrand-Jurgens disease von Willebrand's-Jurgens' disease von Willebrand disorder
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| has_exact_synonym |
hereditary von Willebrand disease congenital von willebrand's disease hereditary von Willebrand disease (hereditary or acquired) von Willebrand-Jrgens disease vascular pseudohemophilia
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| has_related_synonym |
von Willebrand's disease congenital von willebrand disease
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| label |
hereditary von Willebrand disease
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| prefixIRI |
MONDO:0019565
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| prefLabel |
hereditary von Willebrand disease
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| textual definition |
Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024574 |
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