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Summary Literature (0)
DOID:1339 - Diamond-Blackfan anemia


Disease Ontology Definition:A pure red-cell aplasia 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

Xenbase Genes : gata1, rpl15, rps26, rps24, rps19, rps10, rpl35, rps7, rps15a, rpl5, tsr2, rpl27, rpl11, rpl18, rpl35a, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015253 - Diamond-Blackfan anemia

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

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital hypoplastic anemia (is_a), pure red-cell aplasia (is_a)