Metadata | |
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ID | DOID:0060573 |
Name | von Willebrand's disease 1 |
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. https://www.ncbi.nlm.nih.gov/pubmed/16889557, https://www.ncbi.nlm.nih.gov/pubmed/8456432 |
Xrefs |
SNOMEDCT_US_2023_03_01:128106003 |
Subsets |
NCIthesaurus |
Synonyms |
von Willebrand disease type 1 [EXACT] von Willebrand disease type I [EXACT] VWD type 1 [EXACT] VWD1 [EXACT] |
Parent Relationships |