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Summary Literature (4)
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,

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

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


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

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