Search Ontology:
Human Disease
Roberts syndrome
- Term ID
- DOID:5325
- Synonyms
-
- LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
- RBS
- Roberts-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. (2)
- References
-
- GARD:7387
- MESH:C535687
- MIM:268300
- Ontology
- Human Disease ( DOID:5325 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models