WormBase Tree Display for DO_term: DOID:0111894
expand all nodes | collapse all nodes | view schema
| DOID:0111894 | Name | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | DBA15 | |||
| Parent | Is_a | DOID:1339 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 606164 | |
| Attribute_of | Gene_by_orthology | WBGene00004497 |
