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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 9
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Accession:DOID:0111045 term browser browse the term
Definition:A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. (DO)
Synonyms:exact_synonym: BDPLT9;   COLLAGEN PLATELET RECEPTOR DEFICIENCY;   GP IA Deficiency;   Glycoprotein IA Deficiency
 primary_id: MESH:C566000
 alt_id: OMIM:614200
 xref: ICD10CM:D69.8;   ORDO:98886
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
platelet-type bleeding disorder 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 OMIM
ClinVar		 PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Pathological Conditions, Signs and Symptoms 13307
      Pathologic Processes 8244
        Hemorrhage 286
          platelet-type bleeding disorder 9 2
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Hemic and Lymphatic Diseases 4132
        hematopoietic system disease 3634
          blood coagulation disease 929
            hemorrhagic disease 884
              blood platelet disease 351
                thrombocytopenia 265
                  platelet-type bleeding disorder 9 2
paths to the root