loading...| Preferred Name |
gray platelet syndrome |
|
| Synonyms |
BDPLT4 |
|
| 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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| database_cross_reference |
SNOMEDCT_US_2023_03_01:51720005 UMLS_CUI:C0272302 ICD10CM:D69.1 MESH:D055652 OMIM:139090 GARD:2562 NCI:C84741 ORDO:721 |
|
| 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. |
|
| has exact synonym |
BDPLT4 platelet-type bleeding disorder 4 platelet alpha-granule deficiency GPS |
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111044 |
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| in_subset | ||
| label |
gray platelet syndrome |
|
| notation |
DOID:0111044 |
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| prefLabel |
gray platelet syndrome |
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| subClassOf |