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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 thrombomodulin defect
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Accession:DOID:0111908 term browser browse the term
Definition:A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. (DO)
Synonyms:exact_synonym: THBD-related bleeding disorder;   THBD-related coagulopathy;   THPH12;   thrombomodulin-related bleeding disorder;   thrombomodulin-related coagulopathy
 primary_id: MESH:C566057
 alt_id: OMIM:614486
 xref: ORDO:436169


show annotations for term's descendants           Sort by:
thrombophilia due to thrombomodulin defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Thrombomodulin-related bleeding disorder | ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7811989 PMID:9198186 PMID:9236408 PMID:9364978 PMID:9843165 More... NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      hematopoietic system disease 3312
        blood coagulation disease 939
          thrombophilia 75
            thrombophilia due to thrombomodulin defect 1
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        genetic disease 18227
          monogenic disease 10209
            autosomal genetic disease 9352
              thrombophilia due to thrombomodulin defect 1
paths to the root