Platelet-Type Bleeding Disorder 19
Disease ID: disease_node_17062
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D69.4, MIM:616176, ORDO:438207 |
|---|---|
| Subclassof | DOID_0050737, DOID_2218 |
| Data Source | DOID |
| Synonyms | BDPLT19, severe autosomal recessive macrothrombocytopenia |
| Doid Label | platelet-type bleeding disorder 19 |
| Doid Description | A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17062 |
| Doid Id | DOID_0111048 |
| Label | Platelet-Type Bleeding Disorder 19 |
- Outgoing r'ship
SUBCLASS_OFto/from Blood Platelet Disorders(ID:disease_node_1622) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)