FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term gray platelet syndrome ID (Ontology) DOID:0111044 (Human Disease)
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.
Also Known As "BDPLT4" ; "GPS" ; "platelet alpha-granule deficiency" (for all, see Synonyms field below)
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 Genes
 gray platelet syndrome       1
 for disease ribbon | gray platelet syndrome       1
 model of | gray platelet syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
blood coagulation disease        |
 |__blood platelet disease_______|
                                 gray platelet syndrome  1 rec.
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Is a autosomal recessive disease
blood platelet disease
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Synonyms
  • "BDPLT4" EXACT OMO:0003012
    "GPS" EXACT OMO:0003012
    "platelet alpha-granule deficiency" EXACT
    "platelet-type bleeding disorder 4" EXACT
Secondary IDs
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GARD:2562
ICD10CM:D69.1
MESH:D055652
MIM:139090
NCI:C84741
ORDO:721
SNOMEDCT_US_2023_03_01:51720005
UMLS_CUI:C0272302