| Metadata | |
|---|---|
| ID | DOID:0111897 |
| Name | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
| Definition | A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. https://pubmed.ncbi.nlm.nih.gov/24942156/, https://pubmed.ncbi.nlm.nih.gov/11424144/ |
| Xrefs | |
| Synonyms |
DBA14 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |