Autosomal Domit Isolated Macrothrombocytopenia 1
Disease ID: disease_node_17050
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D69.4, MIM:613112, ORDO:140957 |
|---|---|
| Subclassof | DOID_0050736, DOID_1588 |
| Data Source | DOID |
| Synonyms | MACTHC1 |
| Doid Label | autosomal domit isolated macrothrombocytopenia 1 |
| Doid Description | A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal domit inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17050 |
| Doid Id | DOID_0090102 |
| Label | Autosomal Domit Isolated Macrothrombocytopenia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Thrombocytopenia(ID:disease_node_7393;disease_node_7394) (Disease)