Diamond-Blackfan anemia

rare

A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

Identifiers: MONDO:0015253 Orphanet:124
Part of: Inherited aplastic anemia Pure red-cell aplasia
Also known as: Aase syndrome · Aase-Smith II syndrome · anaemia congenital erythroid hypoplastic · anaemia Diamond Blackfan type · anemia congenital erythroid hypoplastic

Subtypes

Disease	ID	Genes
Diamond-Blackfan anemia 1	MONDO:0007110	RPS19
Diamond-Blackfan anemia 10	MONDO:0013217	RPS26
Diamond-Blackfan anemia 11	MONDO:0013964	RPL26
Diamond-Blackfan anemia 12	MONDO:0014245	RPL15
Diamond-Blackfan anemia 13	MONDO:0014394	RPS29
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	MONDO:0010493	TSR2
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	MONDO:0011639	RPS28
Diamond-Blackfan anemia 16	MONDO:0044309
Diamond-Blackfan anemia 17	MONDO:0044310
Diamond-Blackfan anemia 18	MONDO:0032668
Diamond-Blackfan anemia 19	MONDO:0032669
Diamond-Blackfan anemia 2	MONDO:0011636
Diamond-Blackfan anemia 20	MONDO:0032670
Diamond-Blackfan anemia 21	MONDO:0031071	HEATR3
Diamond-Blackfan anemia 22	MONDO:0979244	RPL17
Diamond-Blackfan anemia 3	MONDO:0012529	RPS24
Diamond-Blackfan anemia 4	MONDO:0012924	RPS17
Diamond-Blackfan anemia 5	MONDO:0012925	RPL35A
Diamond-Blackfan anemia 6	MONDO:0012937	RPL5
Diamond-Blackfan anemia 7	MONDO:0012938	RPL11
Diamond-Blackfan anemia 8	MONDO:0012939	RPS7
Diamond-Blackfan anemia 9	MONDO:0013216	RPS10

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