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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


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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: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr13:91,271,588...91,625,867
Ensembl chr13:91,271,539...91,625,855 		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:12578987 PMID:20966167 PMID:25741868 More... NCBI chr13:91,522,754...91,572,195
Ensembl chr13:91,521,817...91,572,005 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Pathologic Processes 7349
        Hemorrhage 276
          platelet-type bleeding disorder 8 2
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6386
                platelet-type bleeding disorder 8 2
paths to the root