Autosomal Domit Isolated Macrothrombocytopenia 2
Disease ID: disease_node_17051
Connections displayed (default: 10).
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| Dbxref | MIM:619840 |
|---|---|
| Subclassof | DOID_0050736, DOID_1588 |
| Data Source | DOID |
| Synonyms | MACTHC2 |
| Doid Label | autosomal domit isolated macrothrombocytopenia 2 |
| Doid Description | A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17051 |
| Doid Id | DOID_0060995 |
| Label | Autosomal Domit Isolated Macrothrombocytopenia 2 |
- 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)