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Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | RareConnect | RareConnect.io

/Diamond-Blackfan anemia

/Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Rare Disease

MONDO:0010493

Also Known As

Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessiveDiamond-Blackfan anaemia caused by mutation in TSR2Diamond-Blackfan anemia 14 with mandibulofacial dysostosisDiamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessiveDiamond-Blackfan anemia caused by mutation in TSR2TSR2 Diamond-Blackfan anaemiaTSR2 Diamond-Blackfan anemiaDBA14

Definition

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:300946 ↗

GARD

Related Diseases

Diamond-Blackfan anemia 1

MONDO:0007110

Diamond-Blackfan anemia 2

MONDO:0011636

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

MONDO:0011639

Diamond-Blackfan anemia 3

MONDO:0012529

Diamond-Blackfan anemia 4

MONDO:0012924

Diamond-Blackfan anemia 5

MONDO:0012925

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