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Metadata
ID DOID:0111893
Name Diamond-Blackfan anemia 16
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31.
https://pubmed.ncbi.nlm.nih.gov/25424902/
Xrefs

OMIM:617408

Synonyms

DBA16 [EXACT]

RPL27-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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