OBO ID: DOID:5325
Term Name: Roberts syndrome Search Ontology:
Synonyms:
  • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
  • RBS
  • 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 ESCO2 on chromosome 8p21.1. (2)
References:
Ontology: Human Disease   (DOID:5325)
OTHER Roberts syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ESCO2 SC phocomelia syndrome 269000
Roberts syndrome 268300
PHENOTYPE No data available

CITATIONS (4)