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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:platelet-type bleeding disorder 20
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Accession:DOID:0111055 term browser browse the term
Definition:A blood platelet 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. (DO)
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.



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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 chr10:68,076,326...68,087,794 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    Pathological Conditions, Signs and Symptoms 11299
      Pathologic Processes 7754
        Hemorrhage 276
          platelet-type bleeding disorder 20 1
Path 2
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11671
        genetic disease 11175
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5233
                platelet-type bleeding disorder 20 1
paths to the root