Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0011904 | Persistence of hemoglobin F |
| HP:0012410 | Pure red cell aplasia |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0012758 | Neurodevelopmental delay |
| HP:0012133 | Erythroid hypoplasia |
