| Metadata | |
|---|---|
| ID | DOID:0111880 |
| Name | Diamond-Blackfan anemia 17 |
| Definition | A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. https://pubmed.ncbi.nlm.nih.gov/25424902/ |
| Xrefs | |
| Synonyms |
DBA17 [EXACT] RPS27-related Diamond-Blackfan anemia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |