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Metadata
ID DOID:0111881
Name Diamond-Blackfan anemia 8
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3.
https://pubmed.ncbi.nlm.nih.gov/19061985/
Xrefs

MESH:C567253

OMIM:612563

Synonyms

DBA8 [EXACT]

RPS7-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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