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Metadata
ID DOID:0111895
Name Diamond-Blackfan anemia 1
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2.
https://pubmed.ncbi.nlm.nih.gov/9988267/
Xrefs

MESH:C567302

OMIM:105650

Synonyms

DBA1 [EXACT]

RPS19-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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