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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:thrombophilia due to activated protein C resistance
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Accession:DOID:0111902 term browser browse the term
Definition:A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. (DO)
Synonyms:exact_synonym: APC resistance;   Apc Resistance, Leiden Type;   Factor V Leiden Thrombophilia;   Hereditary Resistance To Activated Protein C;   PCCF DEFICIENCY;   PROC COFACTOR DEFICIENCY;   Protein C Cofactor Deficiency;   THPH2;   Thrombophilia due to Deficiency of Activated Protein C Cofactor;   activated protein C resistance;   thrombophilia V;   thrombophilia due to factor V Leiden
 primary_id: MESH:D020016
 alt_id: MESH:C566056;   OMIM:188055
For additional species annotation, visit the Alliance of Genome Resources.



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thrombophilia due to activated protein C resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance
ClinVar Annotator: match by term: Thrombophilia due to factor V Leiden
ClinVar
OMIM
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      hematopoietic system disease 1913
        blood coagulation disease 648
          Inherited Blood Coagulation Disease 104
            thrombophilia due to activated protein C resistance 4
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                thrombophilia due to activated protein C resistance 4
paths to the root