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Health and Social Person-centric Ontology
| Preferred Name |
No preferred name provided for selected language
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| Synonyms |
von Willebrand's disease congenital von willebrand disease vascular haemophilia 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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| closeMatch | ||
| database_cross_reference |
MedDRA:10047715 Orphanet:903 DOID:12531 GARD:7867 MESH:C531844 SCTID:234446004 ICD9:286.4 UMLS:C0042974
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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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| exactMatch |
http://identifiers.org/mesh/C531844 http://purl.obolibrary.org/obo/Orphanet_903 http://linkedlifedata.com/resource/umls/id/C0042974 |
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| has_broad_synonym |
vascular haemophilia 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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| id |
MONDO:0019565
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
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| label |
hereditary von Willebrand disease
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| notation |
MONDO:0019565
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024574 |
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