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Metadata
ID DOID:0111891
Name Diamond-Blackfan anemia 20
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3.
https://pubmed.ncbi.nlm.nih.gov/27909223/
Xrefs

OMIM:618313

Synonyms

DBA20 [EXACT]

RPS15A-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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