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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Von Willebrand Disease, Type 1 | |
| Synonyms |
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| Definitions |
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036581 |
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| Database_Cross_Reference |
SNOMEDCT_US:128106003 MEDCIN:273703 OMIM:193400 DO:DOID:0060573 MSH:D056725 OMIM:613160 NDFRT:N0000181199
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| Definition |
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
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| label |
Von Willebrand Disease, Type 1
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| MCID |
MC00425247
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| PMOID |
PMO:00036581
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| prefixIRI |
pmo:PMO_00036581
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| prefLabel |
Von Willebrand Disease, Type 1
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| Synonym |
Type I von Willebrand Disease von Willebrand Disease, Type I von Willebrand disease type 1 (disorder) von Willebrand disease type 1 VON WILLEBRAND DISEASE, TYPE I Hereditary von Willebrand disease type 1 Type 1 von Willebrand Disease VON WILLEBRAND DISEASE, TYPE 1 VWD type 1 VWD, TYPE 1 von Willebrand's disease type 1 (diagnosis) VWD1 von Willebrand's disease type 1 von Willebrand disease type I von Willebrand Disease, Type 1 von Willebrand Disease, Type 1 [Disease/Finding] von Willebrand's disease 1
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| Tree Number |
T9.5.2.5.3.2 T9.5.2.14.9.4.2 T9.5.2.14.4.9.2 T9.8.4.5.4.2 T9.5.2.12.6.2
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| subClassOf |
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