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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 X deficiency
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Accession:DOID:2222 term browser browse the term
Definition:A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. (DO)
Synonyms:exact_synonym: F10 deficiency;   Stuart Prower factor deficiency;   Stuart-Prower deficiency;   Stuart-Prower disease;   congenital Stuart factor deficiency;   congenital factor X deficiency;   factor X deficiencies
 primary_id: MESH:D005171
 alt_id: OMIM:227600
 xref: GARD:6404;   NCI:C131632;   ORDO:328
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
factor X deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
ClinVar Annotator: match by term: Factor X deficiency
ClinVar Annotator: match by OMIM:227600
DNA:deletion:cds:c.302delG(human)		 ClinVar
OMIM
RGD		 PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:7669671 More... RGD:1601104, RGD:11041731 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      hematopoietic system disease 1968
        blood coagulation disease 688
          Inherited Blood Coagulation Disease 128
            factor X deficiency 3
Path 2
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal recessive disease 3542
                factor X deficiency 3
paths to the root