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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:X-linked thrombophilia due to factor IX defect
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Accession:DOID:0111899 term browser browse the term
Definition:A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. (DO)
Synonyms:exact_synonym: THPH8
 narrow_synonym: protection against deep venous thrombosis
 primary_id: MESH:C567581
 alt_id: OMIM:300807
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked thrombophilia due to factor IX defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F9 coagulation factor IX ISO ClinVar Annotator: match by OMIM:300807
ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect
ClinVar Annotator: match by term: Deep venous thrombosis, protection against
OMIM
ClinVar
PMID:1346975, PMID:1864609, PMID:2066105, PMID:2198809, PMID:2370049, PMID:2450455, PMID:2472424, PMID:2564457, PMID:2773937, PMID:2929599, PMID:3857619, PMID:5298508, PMID:7937052, PMID:8314564, PMID:19286883, PMID:19699296, PMID:19846852, PMID:22544209, PMID:22639855, PMID:23617593, PMID:25741868, PMID:25851415, PMID:28492532, PMID:29993188, PMID:31064749, PMID:32581362 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        blood coagulation disease 624
          thrombophilia 39
            X-linked thrombophilia due to factor IX defect 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              X-linked thrombophilia due to factor IX defect 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.