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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: OMIA:001058;   OMIM:277480
 xref: ICD10CM:D68.03;   NCI:C85213;   ORDO:166096


show annotations for term's descendants           Sort by:
von Willebrand's disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWF von Willebrand factor IAGP
EXP		 DNA:deletions:exons:
ClinVar Annotator: match by term: von Willebrand disease type 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III		 ClinVar
OMIM
CTD
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 41189
    disease of anatomical entity 32344
      hematopoietic system disease 4988
        blood coagulation disease 1700
          hemorrhagic disease 1541
            von Willebrand's disease 14
              von Willebrand's disease 3 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4988
          blood coagulation disease 1700
            hemorrhagic disease 1541
              blood platelet disease 628
                von Willebrand's disease 14
                  von Willebrand's disease 3 1
paths to the root