Summary Literature (0)

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


OMIM:

OMIM:105650 - diamond-blackfan anemia 1; dba1

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee