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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Roberts syndrome
Summary
- Synonym
-
- LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
- RBS
- Roberts-Sc Phocomelia Syndrome
- SC phocomelia syndrome
- Definition
- A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:5325
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10483 | SEC23B | SEC23 homolog B, COPII coat complex component | |
| 10484 | SEC23A | SEC23 homolog A, COPII coat complex component | |
| 114799 | ESCO1 | establishment of sister chromatid cohesion N-acetyltransferase 1 | |
| 157570 | ESCO2 | establishment of sister chromatid cohesion N-acetyltransferase 2 |
