Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 10
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 16085
    disease of anatomical entity 15340
      hematopoietic system disease 1659
        hemorrhagic disease 614
          blood platelet disease 295
            platelet-type bleeding disorder 10 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                platelet-type bleeding disorder 10 2
paths to the root