Platelet-Type Bleeding Disorder 15
Disease ID: disease_node_17058
Connections displayed (default: 10).
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| Dbxref | MIM:615193 |
|---|---|
| Subclassof | DOID_0050736, DOID_2218 |
| Data Source | DOID |
| Synonyms | BDPLT15, autosomal dominant macrothrombocytopenia ACTN1-related |
| Doid Label | platelet-type bleeding disorder 15 |
| Doid Description | A blood platelet disease characterized by autosomal domit inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17058 |
| Doid Id | DOID_0111053 |
| Label | Platelet-Type Bleeding Disorder 15 |
- 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)