Search Ontology:
Human Disease

gray platelet syndrome

Term ID
DOID:0111044
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
  • MIM:139090
  • NCI:C84741
  • ORDO:721
  • SNOMEDCT_US_2023_03_01:51720005
  • UMLS_CUI:C0272302
Ontology
Human Disease   ( DOID:0111044 )
Relationships
is a type of
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Genes Involved
Zebrafish Models