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Echinobase
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

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


MIM:
MIM:105650 - diamond-blackfan anemia 1; dba1
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)