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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 XII deficiency
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Accession:DOID:2231 term browser browse the term
Definition:An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.
Synonyms:exact_synonym: Coagulation Factor 12 Deficiency;   F12 DEFICIENCY;   Factor 12 Deficiency;   Factor XII Deficiencies;   HAF DEFICIENCY;   Hageman Factor Deficiency;   Hageman deficiency;   Hageman trait;   factor 12 deficiencies;   factor XII deficiency disease
 primary_id: MESH:D005175
 alt_id: OMIM:234000
 xref: GARD:6558;   NCI:C131740;   ORDO:330
For additional species annotation, visit the Alliance of Genome Resources.


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factor XII deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO DNA:missense:exon:C571S
DNA:polymorphism:promoter:-46C>T(human)
DNA:missense, nonsense, deletion mutations:cds:
DNA:deletion mutations, transversion mutation:introns, exon:
ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease		 OMIM
ClinVar
RGD		 PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... RGD:1601107, RGD:11041769, RGD:11041772, RGD:11041805 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease ClinVar PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      hematopoietic system disease 2693
        blood coagulation disease 831
          Inherited Blood Coagulation Disease 165
            factor XII deficiency 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                factor XII deficiency 2
paths to the root