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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
PMID:1939653, PMID:1973167, PMID:1985698, PMID:2790181, PMID:7669671, PMID:7860069, PMID:8449937, PMID:8845463, PMID:8910490, PMID:10468877, PMID:10746568, PMID:10984565, PMID:12181036, PMID:25582404, PMID:25741868, PMID:26879396, PMID:28492532, PMID:29590070, PMID:31064749, PMID:2790181, PMID:22008904 RGD:1601104, RGD:11041731 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868, PMID:31064749 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565, PMID:12181036, PMID:25741868 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        hemorrhagic disease 610
          factor X deficiency 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                factor X deficiency 3
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.