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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Von Willebrand Disease, Type 2 | |
| Synonyms |
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| Definitions |
A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036582 |
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| Database_Cross_Reference |
SNOMEDCT_US:128107007 MEDCIN:273704 DO:DOID:0060574 MSH:D056728 OMIM:613554 NDFRT:N0000181200
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| Definition |
A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
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| label |
Von Willebrand Disease, Type 2
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| MCID |
MC00425248
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| PMOID |
PMO:00036582
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| prefixIRI |
pmo:PMO_00036582
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| prefLabel |
Von Willebrand Disease, Type 2
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| Synonym |
von Willebrand's disease 2 von Willebrand disease type 2 von Willebrand Disease, Type 2 [Disease/Finding] VON WILLEBRAND DISEASE, TYPE II Hereditary von Willebrand disease type 2 von Willebrand's disease type 2 VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2 von Willebrand disease type II Type 2 von Willebrand Disease von Willebrand Disease, Type 2 von Willebrand Disease, Type II von Willebrand's disease type 2 (diagnosis) VWD type 2 von Willebrand disease type 2 (disorder) VWD2 Type II von Willebrand Disease
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| Tree Number |
T9.5.2.14.4.9.3 T9.5.2.14.9.4.3 T9.5.2.12.6.3 T9.8.4.5.4.3 T9.5.2.5.3.3
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