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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:Hereditary Thrombophilia
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Accession:DOID:9005359 term browser browse the term
Synonyms:narrow_synonym: Factor VII Marburg I Variant Thrombophilia
 primary_id: MESH:C540694
 alt_id: RDO:0004609


show annotations for term's descendants           Sort by:
Hereditary Thrombophilia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:9136971 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Habp2 hyaluronan binding protein 2 ISO ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia ClinVar PMID:12138371 PMID:12578864 PMID:15486068 PMID:25741868 PMID:26222560 More... NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160 		JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia ClinVar NCBI chr 1:255,350,113...255,427,704
Ensembl chr 1:255,350,113...255,427,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      hematopoietic system disease 3344
        blood coagulation disease 958
          thrombophilia 75
            Hereditary Thrombophilia 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        hematopoietic system disease 3344
          blood coagulation disease 958
            thrombophilia 75
              Hereditary Thrombophilia 3
paths to the root