# Diamond-Blackfan anemia

> rare disease

**Wikidata**: [Q1208654](https://www.wikidata.org/wiki/Q1208654)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Diamond–Blackfan_anemia)  
**Source**: https://4ort.xyz/entity/diamond-blackfan-anemia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/d.htm)
5. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia
6. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
7. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000213741/Orphanet_124)
9. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197728/Orphanet_124)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000124614/Orphanet_124)
12. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
13. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105372/Orphanet_124)
14. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
15. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171863/Orphanet_124)
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000142676/Orphanet_124)
17. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122406/Orphanet_124)
18. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
19. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000182899/Orphanet_124)
20. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
21. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000138326/Orphanet_124)
22. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
23. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000182774/Orphanet_124)
24. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102145/Orphanet_124)
25. [Identifiers.org](https://registry.identifiers.org/registry/doid)
26. UMLS 2023
27. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)