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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 chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      hematopoietic system disease 1908
        blood coagulation disease 648
          thrombophilia 39
            thrombophilia due to HRG deficiency 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                thrombophilia due to HRG deficiency 1
paths to the root