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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:A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: Coagulation Factor 12 Deficiency;   F12 DEFICIENCY;   Factor 12 Deficiency;   HAF DEFICIENCY;   Hageman deficiency;   Hageman factor deficiency;   Hageman trait;   factor 12 deficiencies;   factor XII 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
ISS		 DNA:missense:exon:C571S
DNA:polymorphism:promoter:-46C>T(human)
DNA:missense, nonsense, deletion mutations:cds:
DNA:deletion mutations, transversion mutation:introns, exon:
CTD Direct Evidence: marker/mechanism
OMIM:234000
ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease		 OMIM
CTD
MouseDO
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:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 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 21128
    disease of anatomical entity 18212
      hematopoietic system disease 3344
        blood coagulation disease 958
          Inherited Blood Coagulation Disease 212
            factor XII deficiency 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                factor XII deficiency 2
paths to the root