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Metadata
ID DOID:0111880
Name Diamond-Blackfan anemia 17
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3.
https://pubmed.ncbi.nlm.nih.gov/25424902/
Xrefs

OMIM:617409

Synonyms

DBA17 [EXACT]

RPS27-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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