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Summary Literature (2)
DOID:1339 - Diamond-Blackfan anemia


Disease Ontology Definition:A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.

Synonyms: Blackfan - Diamond syndrome, chronic constitutional pure red cell anaemia

In OMIM:
OMIM:105650 - DIAMOND-BLACKFAN ANEMIA 1; DBA1
OMIM:606129 - DIAMOND-BLACKFAN ANEMIA 2; DBA2
OMIM:610629 - DIAMOND-BLACKFAN ANEMIA 3; DBA3
OMIM:612527 - DIAMOND-BLACKFAN ANEMIA 4; DBA4
OMIM:612528 - DIAMOND-BLACKFAN ANEMIA 5; DBA5
OMIM:612561 - DIAMOND-BLACKFAN ANEMIA 6; DBA6
OMIM:612562 - DIAMOND-BLACKFAN ANEMIA 7; DBA7
OMIM:612563 - DIAMOND-BLACKFAN ANEMIA 8; DBA8
OMIM:613308 - DIAMOND-BLACKFAN ANEMIA 9; DBA9
OMIM:613309 - DIAMOND-BLACKFAN ANEMIA 10; DBA10
OMIM:614900 - DIAMOND-BLACKFAN ANEMIA 11; DBA11
OMIM:615550 - DIAMOND-BLACKFAN ANEMIA 12; DBA12
OMIM:615909 - DIAMOND-BLACKFAN ANEMIA 13; DBA13

In Mondo Disease Ontology:
MONDO:0015253 - Diamond-Blackfan anemia

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gata1, rpl15, rps26, rpl26, rps24, rps19, rps10, rpl35, rps7, rps15a, rpl5, tsr2, rpl27, rpl11, rpl18, [+]

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital hypoplastic anemia (is_a)