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Metadata
ID DOID:0111896
Name Diamond-Blackfan anemia 18
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
https://pubmed.ncbi.nlm.nih.gov/28280134/
Xrefs

MIM:618310

Synonyms

DBA18 [EXACT]

RPL18-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

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