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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;   NBEAL2-RELATED CONDITION;   gray platelet syndromes;   platelet alpha-granule deficiencies;   platelet alpha-granule deficiency;   platelet-type bleeding disorder 4
 primary_id: MESH:D055652
 alt_id: MIM:139090
 xref: GARD:2562;   ORDO:721

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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 chr22:8,326,480...8,384,985
Ensembl chr22:8,326,798...8,381,938 		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 chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274 		JBrowse link
G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition OMIM
ClinVar		 PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chr22:8,385,109...8,414,553
Ensembl chr22:8,385,229...8,414,655 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      gray platelet syndrome 3
        Platelet granule deficiency disorder 0
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          monogenic disease 10479
            autosomal genetic disease 10029
              autosomal recessive disease 6789
                gray platelet syndrome 3
                  Platelet granule deficiency disorder 0
paths to the root