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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 8
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Accession:DOID:0060692 term browser browse the term
Definition:A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO)
Synonyms:exact_synonym: ADP platelet receptor P2Y12 defect;   BDPLT8;   IMPAIRED ADP-INDUCED PLATELET AGGREGATION;   P2Y12 defect;   bleeding disorder due to P2RY12 defect;   bleeding disorder, P2RY12;   bleeding disorder, P2RY12-related
 primary_id: MESH:C565220
 alt_id: OMIA:001564;   OMIM:609821
 xref: ORDO:36355
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar PMID:7706468, PMID:11196645, PMID:20966167, PMID:25741868, PMID:29117459, PMID:31064749 NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
OMIM
ClinVar
PMID:7706468, PMID:11196645, PMID:20966167, PMID:25741868, PMID:29117459, PMID:31064749 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Pathologic Processes 6121
        Hemorrhage 272
          platelet-type bleeding disorder 8 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                platelet-type bleeding disorder 8 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.