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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,
Echinobase Genes
:
rps19,
rps24,
rpl35a,
LOC580462,
rpl15,
rpl5,
rpl11,
rps17
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)