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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: Hageman factor deficiency
ClinVar Annotator: match by OMIM:234000
ClinVar Annotator: match by term: Factor XII deficiency disease
OMIM
ClinVar
PMID:8528215, PMID:9354665, PMID:9490684, PMID:10361128, PMID:10984376, PMID:11843842, PMID:16638441, PMID:17186468, PMID:17825897, PMID:18974842, PMID:19178938, PMID:19474702, PMID:19786295, PMID:19933701, PMID:20303064, PMID:20490261, PMID:21264442, PMID:21690105, PMID:21920016, PMID:23188048, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:25744496, PMID:25790805, PMID:26286125, PMID:28492532, PMID:2510163, PMID:11248286, PMID:20386432, PMID:18024408 RGD:1601107, RGD:11041769, RGD:11041772, RGD:11041805 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar PMID:8528215, PMID:9354665, PMID:9490684, PMID:10361128, PMID:10984376, PMID:11843842, PMID:16638441, PMID:17186468, PMID:17825897, PMID:18974842, PMID:19178938, PMID:19474702, PMID:19786295, PMID:19933701, PMID:20303064, PMID:20490261, PMID:21264442, PMID:21690105, PMID:21920016, PMID:23188048, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:25744496, PMID:25790805, PMID:26286125, PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      hematopoietic system disease 1645
        hemorrhagic disease 611
          factor XII deficiency 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                factor XII deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.