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 | |
Synonyms |
DBA13 [EXACT] RPS29-related Diamond-Blackfan anemia [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |