| Metadata | |
|---|---|
| ID | DOID:0111044 |
| Name | gray platelet syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/17768118, https://www.ncbi.nlm.nih.gov/pubmed/21765411, https://www.ncbi.nlm.nih.gov/pubmed/21765412, https://www.ncbi.nlm.nih.gov/pubmed/21765413 |
| Xrefs |
SNOMEDCT_US_2023_03_01:51720005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
BDPLT4 [EXACT] GPS [EXACT] platelet alpha-granule deficiency [EXACT] platelet-type bleeding disorder 4 [EXACT] |
| Parent Relationships |