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von Willebrand's disease 3 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:von Willebrand's disease 3
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Accession:DOID:0111054 term browser browse the term
Definition:A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. (DO)
Synonyms:exact_synonym: Type 3 VWD;   Type 3 Von Willebrand's Disease;   VWD3;   Von Willebrand disease III;   von Willebrand disease type 3;   von Willebrand disease type III;   von Willebrand disease, severe form
 primary_id: MESH:D056729
 alt_id: MIM:277480;   OMIA:001058
 xref: ICD10CM:D68.03;   NCI:C85213;   ORDO:166096

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von Willebrand's disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052 		JBrowse link
G G VWF von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260 		JBrowse link
G P VWF von Willebrand factor ISO
IAGP		 ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3
Von Willebrand disease III		 OMIM
ClinVar
OMIA		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938 		JBrowse link
G S Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		JBrowse link
G D VWF von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
G B VWF von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153 		JBrowse link
G C Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571 		JBrowse link
G R Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons:		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... RGD:11079204 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G M Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons:		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... RGD:11079204 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
G H VWF von Willebrand factor IAGP
EXP		 DNA:deletions:exons:
ClinVar Annotator: match by term: von Willebrand disease type 3
ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... RGD:11079204 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      hematopoietic system disease 41379
        blood coagulation disease 15062
          hemophilia 4636
            von Willebrand's disease 98
              von Willebrand's disease 3 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Hemic and Lymphatic Diseases 46557
        hematopoietic system disease 41379
          blood coagulation disease 15062
            hemorrhagic disease 14450
              blood platelet disease 4525
                von Willebrand's disease 98
                  von Willebrand's disease 3 10
paths to the root