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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:Prekallikrein Deficiency
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Accession:DOID:9003851 term browser browse the term
Definition:This disease is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time
Synonyms:exact_synonym: Fletcher Factor Deficiency;   INHERITED PREKALLIKREIN DEFICIENCY;   KLKB1-RELATED CONDITION;   PKK Deficiency;   PKKD
 primary_id: MESH:C562725
 alt_id: OMIA:000819;   OMIM:612423


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Prekallikrein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: KLKB1-related condition | ClinVar Annotator: match by term: Prekallikrein deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12871337 PMID:14652634 PMID:15461630 PMID:17598838 PMID:19404525 More... NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      hematopoietic system disease 3349
        blood coagulation disease 960
          Prekallikrein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      Hemic and Lymphatic Diseases 3858
        hematopoietic system disease 3349
          blood coagulation disease 960
            Prekallikrein Deficiency 1
paths to the root