Diamond-Blackfan anemia 17

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Summary

Literature (0)

DOID:0111880 - Diamond-Blackfan anemia 17

Disease Ontology Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3.

Synonyms: DBA17, RPS27-related Diamond-Blackfan anemia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rps27

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

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

Parent(s): autosomal dominant disease (is_a), Diamond-Blackfan anemia (is_a)