Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Disease ID: disease_node_15309
Connections displayed (default: 10).
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| Dbxref | MIM:606164 |
|---|---|
| Subclassof | DOID_0050736, DOID_1339 |
| Data Source | DOID |
| Synonyms | DBA15 |
| Doid Label | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
| Doid Description | A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15309 |
| Doid Id | DOID_0111894 |
| Label | Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Anemia, Diamond-Blackfan(ID:disease_node_11027) (Disease)