Bernard-Soulier Syndrome Type A2
Disease ID: disease_node_17066
Connections displayed (default: 10).
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| Dbxref | MIM:153670 |
|---|---|
| Subclassof | DOID_2217 |
| Data Source | DOID |
| Synonyms | BSSA2 |
| Doid Label | Bernard-Soulier syndrome type A2 |
| Doid Description | A Bernard-Soulier syndrome characterized by autosomal domit inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. |
| Has Symptom | SYMP_0000007 |
| Disease Node Id | disease_node_17066 |
| Doid Id | DOID_0111059 |
| Label | Bernard-Soulier Syndrome Type A2 |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bernard-Soulier Syndrome(ID:disease_node_1515) (Disease)