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Cell Culture Ontology
| Preferred Name | hereditary von Willebrand disease | |
| Synonyms |
von Willebrand's disease congenital von willebrand disease von Willebrand's-Jurgens' disease vascular hemophilia von Willebrand-Jurgens disease vascular haemophilia von Willebrand disease von Willebrand disorder hereditary von Willebrand disease (hereditary or acquired) hereditary von Willebrand disease von Willebrand-Jrgens disease congenital von willebrand's 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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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019565 |
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| database_cross_reference |
MESH:C531844 Orphanet:903 MEDGEN:1814986 UMLS:C5703318 icd11.foundation:2112021600 MedDRA:10047715 SCTID:234446004 DOID:12531 GARD:7867 ICD9:286.4
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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 |
von Willebrand's-Jurgens' disease vascular hemophilia von Willebrand-Jurgens disease vascular haemophilia von Willebrand disease von Willebrand disorder
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| has_exact_synonym |
hereditary von Willebrand disease (hereditary or acquired) hereditary von Willebrand disease von Willebrand-Jrgens disease congenital von willebrand's 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/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
hereditary von Willebrand disease
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|
| notation |
MONDO:0019565
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|
| preferred label |
hereditary von Willebrand disease
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|
| prefLabel |
hereditary von Willebrand disease
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/C531844 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2112021600 http://purl.obolibrary.org/obo/Orphanet_903 http://identifiers.org/snomedct/234446004 http://linkedlifedata.com/resource/umls/id/C5703318 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024574 |
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