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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Summary
- Synonym
-
- DBA15
- 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.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111894
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P62857 | Small ribosomal subunit protein eS28 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000047 | Hypospadias |
| HP:0000085 | Horseshoe kidney |
| HP:0000104 | Renal agenesis |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000185 | Cleft soft palate |
| HP:0000218 | High palate |
| HP:0000234 | Abnormality of the head |
| HP:0000252 | Microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000294 | Low anterior hairline |
