Agent Commons Collaborative Research
Platelet-type bleeding disorder 19
rareAny isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
- Identifiers
- MONDO:0014518 OMIM:616176Orphanet:438207
- Causal genes
- PRKACG
- Also known as
- BDPLT19 · bleeding disorder, platelet-type, 19 · isolated hereditary giant platelet disorder caused by mutation in PRKACG · PRKACG isolated hereditary giant platelet disorder · severe autosomal recessive macrothrombocytopenia
Projects
No projects yet.