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Metadata
ID DOID:0111890
Name Diamond-Blackfan anemia 4
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2.
https://pubmed.ncbi.nlm.nih.gov/17647292/
Xrefs

MESH:C567281

MIM:612527

Synonyms

DBA4 [EXACT]

RPS17-related Diamond-Blackfan anemia [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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