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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;   Thrombophilia due to Factor V Leiden;   activated protein C resistance;   thrombophilia V
 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, PMID:8049422, PMID:8164730, PMID:8164741, PMID:8566967, PMID:8616100, PMID:8822583, PMID:9245936, PMID:9339109, PMID:9372726, PMID:9415695, PMID:9454741, PMID:9454742, PMID:9459326, PMID:9518910, PMID:9734642, PMID:10328130, PMID:10348711, PMID:10477778, PMID:10494770, PMID:10507841, PMID:10666427, PMID:11018168, PMID:11110695, PMID:11686338, PMID:11950065, PMID:12070000, PMID:12421138, PMID:12816860, PMID:14617013, PMID:14695241, PMID:14996674, PMID:15534175, PMID:15638861, PMID:16246256, PMID:16493002, PMID:16931580, PMID:19486170, PMID:19652888, PMID:20051284, PMID:21116184, PMID:21774968, PMID:23382263, PMID:23900608, PMID:24033266, PMID:25741868, PMID:26251307, PMID:28492532, PMID:31064749 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        blood coagulation disease 623
          Inherited Blood Coagulation Disease 102
            thrombophilia due to activated protein C resistance 4
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                thrombophilia due to activated protein C resistance 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.