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Mondo Disease Ontology
| Preferred Name | von Willebrand disease type 2M | |
| Synonyms |
von Willebrand disease, type 2M |
|
| Definitions |
A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. Editor note: 2 sctitds refer to same disease |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015630 |
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| comment |
Editor note: 2 sctitds refer to same disease
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| database_cross_reference |
NCIT:C131688 icd11.foundation:1358085002 MEDGEN:266186 Orphanet:166090 UMLS:C1282974 GARD:17023 SCTID:359725000 SCTID:359729006
|
|
| definition |
A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.
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|
| has_exact_synonym |
von Willebrand disease, type 2M
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|
| id |
MONDO:0015630
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
|
| label |
von Willebrand disease type 2M
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|
| notation |
MONDO:0015630
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|
| prefLabel |
von Willebrand disease type 2M
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| skos_exactMatch |
http://identifiers.org/snomedct/359729006 http://identifiers.org/medgen/266186 http://linkedlifedata.com/resource/umls/id/C1282974 http://identifiers.org/snomedct/359725000 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1358085002 |
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