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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:heparin cofactor II deficiency
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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
 broad_synonym: THROMBOTIC STROKE
 primary_id: MESH:C562865
 alt_id: OMIM:612356
For additional species annotation, visit the Alliance of Genome Resources.


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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 Annotator: match by term: Thrombotic stroke
ClinVar PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:31064749 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 term: Heparin cofactor II deficiency
ClinVar Annotator: match by term: Thrombotic stroke
ClinVar Annotator: match by OMIM:612356
OMIM
ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:31064749 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 17126
    disease of anatomical entity 16474
      hematopoietic system disease 1797
        blood coagulation disease 650
          thrombophilia 39
            heparin cofactor II deficiency 2
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                heparin cofactor II deficiency 2
paths to the root