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Metadata
ID DOID:0111879
Name Diamond-Blackfan anemia 6
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1.
https://pubmed.ncbi.nlm.nih.gov/19061985/
Xrefs

MESH:C538442

MIM:612561

Synonyms

DBA6 [EXACT]

RPL5-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Diamond-Blackfan anemia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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