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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 the HCF2 gene 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


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 term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke ClinVar PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 More... NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 More... NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      hematopoietic system disease 3349
        blood coagulation disease 960
          thrombophilia 75
            heparin cofactor II deficiency 2
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                heparin cofactor II deficiency 2
paths to the root