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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



show annotations for term's descendants           Sort by:
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 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Nbeal2 neurobeachin-like 2 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 4 | ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: Platelet alpha-granule deficiency
OMIM:139090
OMIM
CTD
ClinVar
MouseDO
PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    syndrome 10749
      gray platelet syndrome 3
        Platelet granule deficiency disorder 0
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            autosomal genetic disease 9422
              autosomal recessive disease 6502
                gray platelet syndrome 3
                  Platelet granule deficiency disorder 0
paths to the root