OBO ID: DOID:0111044
Term Name: gray platelet syndrome Search Ontology:
Synonyms:
  • BDPLT4
  • GPS
  • platelet alpha-granule deficiency
  • platelet-type bleeding disorder 4
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. (4)
References:
  • GARD:2562
  • ICD10CM:D69.1
  • MESH:D055652
  • NCI:C84741
  • OMIM:139090
  • ORDO:721
  • SNOMEDCT_US_2022_03_01:51720005
  • UMLS_CUI:C0272302
Ontology: Human Disease   (DOID:0111044)
OTHER gray platelet syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NBEAL2 Gray platelet syndrome 139090
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None