| Metadata | |
|---|---|
| ID | DOID:5325 |
| Name | Roberts 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. https://ghr.nlm.nih.gov/condition/roberts-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/20101700 |
| Xrefs |
SNOMEDCT_US_2023_03_01:48718006 |
| Alternateids |
DOID:0050536 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE [EXACT] RBS [EXACT] Roberts-Sc Phocomelia Syndrome [EXACT] SC phocomelia syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |