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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:1680287 PMID:1864609 PMID:2066105 PMID:2198809 PMID:2370049 PMID:2450455 PMID:2472424 PMID:2564457 PMID:2773937 PMID:2929599 PMID:3857619 PMID:5298508 PMID:7482402 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:11122099 PMID:11328285 PMID:12588353 PMID:15569175 PMID:15921378 PMID:16643212 PMID:19286883 PMID:19699296 PMID:19846852 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      hematopoietic system disease 1647
        blood coagulation disease 626
          thrombophilia 39
            X-linked thrombophilia due to factor IX defect 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              X-linked thrombophilia due to factor IX defect 1
paths to the root