Search Ontology:
Human Disease

Roberts syndrome

Term ID
DOID:5325
Synonyms
  • 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. (2)
References
Ontology
Human Disease   ( DOID:5325 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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