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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 factor XIII activity
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Accession:HP:0008357 term browser browse the term
Definition:Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
Synonyms:xref: UMLS:C4024692


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Reduced factor XIII activity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO OMIM:613225 ORPHA:331 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO OMIM:613235 ORPHA:331 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		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
Factor XIII subunit A deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13A1 coagulation factor XIII A chain IAGP ClinVar Annotator: match by term: Factor XIII subunit A deficiency
ClinVar Annotator: match by term: Reduced factor XIII, subunit A		 ClinVar
HPO		 PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More... OMIM:613225 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
Factor XIII subunit B deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13B coagulation factor XIII B chain IAGP ClinVar Annotator: match by term: Reduced factor XIII, subunit B
ClinVar Annotator: match by term: Factor XIII subunit B deficiency		 ClinVar
HPO		 PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... OMIM:613235 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of blood and blood-forming tissues 2649
        Abnormality of coagulation 615
          Abnormality of the coagulation cascade 539
            Abnormality of the common coagulation pathway 329
              Reduced factor XIII activity 6
                Factor XIII subunit A deficiency 1
                Factor XIII subunit B deficiency 1
paths to the root