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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:Factor XIII, B Subunit, Deficiency Of
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Accession:DOID:9008281 term browser browse the term
Synonyms:primary_id: MESH:C567688
 alt_id: OMIM:613235


show annotations for term's descendants           Sort by:
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13b coagulation factor XIII B chain ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... RGD:10450738 NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        blood coagulation disease 959
          Inherited Blood Coagulation Disease 212
            factor XIII deficiency 3
              Factor XIII, B Subunit, Deficiency Of 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                factor XIII deficiency 3
                  Factor XIII, B Subunit, Deficiency Of 1
paths to the root