Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:heparin cofactor II deficiency
go back to main search page
Accession:DOID:0111901 term browser browse the term
Definition:A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in HCF2 on chromosome 22q11.21. (DO)
Synonyms:exact_synonym: HCF 2 deficiency;   HCF2 DEFICIENCY;   Hcf II Deficiency;   THPH10;   susceptibility to thrombophilia due to heparin cofactor II deficiency;   thrombophilia due to heparin cofactor II deficiency
 primary_id: MESH:C562865
 alt_id: OMIM:612356
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
heparin cofactor II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Heparin cofactor II deficiency
ClinVar PMID:2647747, PMID:8562924, PMID:8902986, PMID:11204559 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by OMIM:612356 OMIM
ClinVar
PMID:2647747, PMID:8562924, PMID:8902986, PMID:11204559 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        blood coagulation disease 623
          thrombophilia 39
            heparin cofactor II deficiency 2
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                heparin cofactor II deficiency 2
paths to the root

NHLBI Logo

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