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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 THBD 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614486
ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect
OMIM
ClinVar
PMID:7811989, PMID:9236408, PMID:9364978, PMID:9843165, PMID:10195941, PMID:10460600, PMID:10627464, PMID:11078228, PMID:11986219, PMID:12139752, PMID:23332921, PMID:25741868, PMID:28492532 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        blood coagulation disease 624
          thrombophilia 39
            thrombophilia due to thrombomodulin defect 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              thrombophilia due to thrombomodulin 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.