Preferred Name |
gray platelet syndrome |
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Synonyms |
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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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imported from | ||
label |
gray platelet syndrome |
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prefixIRI |
DOID:0111044 |
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prefLabel |
gray platelet syndrome |
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subClassOf |