ONTOLOGY REPORT - ANNOTATIONS


Term:gray platelet syndrome
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Accession:DOID:0111044 term browser browse the term
Definition:A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time.
Synonyms:exact_synonym: BDPLT4;   Bleeding Disorder, Platelet-Type, 4;   GPS;   Gray Platelet Syndromes;   Grey Platelet Syndrome;   Grey Platelet Syndromes;   Platelet alpha Granule Deficiency;   Platelet alpha-Granule Deficiencies
 primary_id: MESH:D055652;   RDO:0000115
 alt_id: OMIM:139090
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gray platelet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc12 coiled-coil domain containing 12 JBrowse link 8 118,925,682 118,977,038 RGD:8554872
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:11040508
G Nbeal2 neurobeachin-like 2 JBrowse link 8 118,893,987 118,924,390 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14926
    syndrome 4715
      gray platelet syndrome 4
        Platelet granule deficiency disorder 0
Path 2
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  disease 14926
    disease of anatomical entity 14092
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            hemorrhagic disease 378
              blood platelet disease 193
                gray platelet syndrome 4
                  Platelet granule deficiency disorder 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.