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 / Organisms
Diamond-Blackfan anemia 18
Summary
- Synonym
-
- DBA18
- RPL18-related Diamond-Blackfan anemia
- Definition
- A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111896
- Mondo Disease Ontology
- OMIM
Related Genes
- 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 |
