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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:thrombophilia due to HRG deficiency
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Accession:DOID:0111903 term browser browse the term
Definition:A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. (DO)
Synonyms:exact_synonym: THPH11;   hereditary thrombophilia due to congenital HRG deficiency;   hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency;   thrombophilia due to elevated histidine-rich glycoprotein;   thrombophilia due to histidine-rich glycoprotein deficiency
 primary_id: MESH:C567737
 alt_id: OMIM:613116
 xref: ORDO:217467
For additional species annotation, visit the Alliance of Genome Resources.


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thrombophilia due to HRG deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by OMIM:613116
ClinVar Annotator: match by term: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY
OMIM
ClinVar
PMID:9414276, PMID:11057869, PMID:29108964 NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
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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
            thrombophilia due to HRG deficiency 1
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
                thrombophilia due to HRG deficiency 1
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.