Gray Platelet Syndrome
Disease ID: disease_node_12095
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D69.1, MESH:D055652, MIM:187900, NCI:C84741, SNOMEDCT_US_2023_03_01:51720005, UMLS_CUI:C0272302 |
|---|---|
| Subclassof | DOID_0050736, DOID_2218 |
| Data Source | DOID, MESH |
| Synonyms | BDPLT17, hereditary thrombasthenia-thrombocytopenia |
| Mesh Id | D055652 |
| Mesh Label | Gray Platelet Syndrome |
| Mesh Subclassof | D001791, D025861 |
| Doid Label | platelet-type bleeding disorder 17 |
| Doid Description | A blood platelet disease characterized by autosomal domit inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12095 |
| Doid Id | DOID_0111049 |
| Label | Gray Platelet Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Blood Platelet Disorders(ID:disease_node_1622) (Disease)