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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 10
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Accession:DOID:0111046 term browser browse the term
Definition:A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: BDPLT10;   CD36 Deficiency;   platelet glycoprotein IV deficiency
 primary_id: MESH:C564245
 alt_id: OMIM:608404
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 OMIM
ClinVar		 PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More... NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      hematopoietic system disease 2800
        blood coagulation disease 830
          Inherited Blood Coagulation Disease 165
            platelet-type bleeding disorder 10 2
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          monogenic disease 8550
            autosomal genetic disease 7555
              autosomal recessive disease 4589
                platelet-type bleeding disorder 10 2
paths to the root