# congenital amegakaryocytic thrombocytopenia

> thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34

**Wikidata**: [Q5160405](https://www.wikidata.org/wiki/Q5160405)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Congenital_amegakaryocytic_thrombocytopenia)  
**Source**: https://4ort.xyz/entity/congenital-amegakaryocytic-thrombocytopenia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/d97f51ea-0148-483b-a18e-e61ee2e30690--2020-07-22T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97f51ea-0148-483b-a18e-e61ee2e30690-2020-07-22T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000117400/MONDO_0011469)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)