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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:gray platelet syndrome
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Accession:DOID:0111044 term browser browse the term
Definition:A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: BDPLT4;   GPS;   Grey Platelet Syndrome;   Grey Platelet Syndromes;   gray platelet syndromes;   platelet alpha-granule deficiencies;   platelet alpha-granule deficiency;   platelet-type bleeding disorder 4
 primary_id: MESH:D055652
 alt_id: OMIM:139090
 xref: GARD:2562;   ORDO:721
For additional species annotation, visit the Alliance of Genome Resources.


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gray platelet syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr 8:118,925,682...118,977,038
Ensembl chr 8:118,926,478...118,977,051
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome
ClinVar Annotator: match by OMIM:139090
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21765411, PMID:21765412, PMID:21765413, PMID:25741868, PMID:28492532, PMID:31064749, PMID:32581362 NCBI chr 8:118,893,987...118,924,390
Ensembl chr 8:118,893,995...118,926,613
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      gray platelet syndrome 3
        Platelet granule deficiency disorder 0
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                gray platelet syndrome 3
                  Platelet granule deficiency disorder 0
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.