# beta thalassemia

> thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin

**Wikidata**: [Q3616632](https://www.wikidata.org/wiki/Q3616632)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Beta_thalassemia)  
**Source**: https://4ort.xyz/entity/beta-thalassemia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Source](https://lingualibre.fr/wiki/Q213124)
4. Freebase Data Dumps. 2013
5. NDF-RT
6. [Phenocarta](https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_12241&ncbiId=53335)
7. One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain
8. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000244734/Orphanet_848)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)