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Repository for lectin-assisted multimodality data
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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q56NI9 | N-acetyltransferase ESCO2 |
