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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | gray platelet syndrome | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111044 |
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| 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.
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| label |
gray platelet syndrome
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| prefixIRI |
DOID:0111044
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| prefLabel |
gray platelet syndrome
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