Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:platelet-type bleeding disorder 20
go back to main search page
Accession:DOID:0111055 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
Synonyms:exact_synonym: BDPLT20;   autosomal dominant thrombocytopenia with platelet secretion defect
 primary_id: OMIM:616913
 xref: ORDO:466806
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
platelet-type bleeding disorder 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 OMIM
ClinVar
PMID:25741868 PMID:26280575 PMID:26769223 PMID:29678925 PMID:32581362 NCBI chr10:70,493,340...70,504,810 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    Pathological Conditions, Signs and Symptoms 10222
      Pathologic Processes 6695
        Hemorrhage 261
          platelet-type bleeding disorder 20 1
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          monogenic disease 7121
            autosomal genetic disease 6275
              autosomal dominant disease 4455
                platelet-type bleeding disorder 20 1
paths to the root