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
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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
- Ontology
- Human Disease ( DOID:0111044 )
- is a type of
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Genes Involved
Zebrafish Models