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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Reduced coagulation factor V activity
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Accession:HP:0003225 term browser browse the term
Definition:Decreased activity of coagulation factor V.
Comment:Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
Synonyms:exact_synonym: Reduced factor V activity
 related_synonym: Factor V deficiency
 xref: MESH:D005166;   SNOMEDCT_US:4320005;   SNOMEDCT_US:88776002;   UMLS:C0015499


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Reduced coagulation factor V activity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Factor V deficiency
ClinVar Annotator: match by term: Reduced coagulation factor V activity		 ClinVar
HPO		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... OMIM:227400 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP ClinVar Annotator: match by term: Factor V deficiency ClinVar
HPO		 PMID:25741868 OMIM:227300 ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO OMIM:613625 ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of blood and blood-forming tissues 2647
        Abnormality of coagulation 615
          Abnormality of the coagulation cascade 539
            Abnormality of the common coagulation pathway 329
              Abnormal coagulation factor V activity 5
                Reduced coagulation factor V activity 4
paths to the root