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Metadata
ID DOID:0111889
Name Diamond-Blackfan anemia 13
Definition A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3.
https://pubmed.ncbi.nlm.nih.gov/24829207/
Xrefs

MIM:615909

Synonyms

DBA13 [EXACT]

RPS29-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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