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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 glycoprotein IV deficiency
ClinVar Annotator: match by OMIM:608404
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7533783, PMID:7686693, PMID:8696942, PMID:10890433, PMID:10946357, PMID:11019968, PMID:11352982, PMID:11499670, PMID:11718687, PMID:11950861, PMID:12031598, PMID:15282206, PMID:15671915, PMID:16493488, PMID:18305138, PMID:19403559, PMID:20722468, PMID:22993001, PMID:23649248, PMID:23856131, PMID:23966019, PMID:24033266, PMID:24917573, PMID:24960640, PMID:25330908, PMID:25741868, PMID:25798958, PMID:25995486, PMID:26528880, PMID:28137300, PMID:28492532 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        hemorrhagic disease 610
          blood platelet disease 291
            platelet-type bleeding disorder 10 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                platelet-type bleeding disorder 10 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.