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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Von Willebrand disease, platelet type | |
| Synonyms |
Pseudo-Von Willebrand disease Platelet-type Von Willebrand disease Von Willebrand Disease, Platelet-Type |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536458 |
|
| altLabel |
Pseudo-Von Willebrand disease Platelet-type Von Willebrand disease Von Willebrand Disease, Platelet-Type
|
|
| cui |
C1280798
|
|
| HM |
D014842
|
|
| Inverse of RB |
0
|
|
| Mapped to | ||
| MDA |
20100825
|
|
| MeSH Frequency |
29
|
|
| MMR |
20150818
|
|
| notation |
C536458
|
|
| prefLabel |
Von Willebrand disease, platelet type
|
|
| SC |
3
|
|
| Scope Statement |
An autosomal dominant bleeding disorder characterized by abnormally enhanced binding of VON WILLEBRAND FACTOR by the PLATELET GLYCOPROTEIN GPIB-IX COMPLEX. Mutations in the GP1BA gene have been identified. OMIM: 177820
|
|
| TERMUI |
T739409 T739407 T739408 T802406
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|
| TH |
OMIM (2013) ORD (2010)
|
|
| tui |
T047
|
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