FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Roberts syndrome ID (Ontology) DOID:5325 (Human Disease)
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.
Also Known As "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE" ; "RBS" ; "Roberts-Sc Phocomelia Syndrome" (for all, see Synonyms field below)
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 Genes
 Roberts syndrome       1
 for disease ribbon | Roberts syndrome       1
 model of | Roberts syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Roberts syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE" EXACT
    "RBS" EXACT OMO:0003012
    "Roberts-Sc Phocomelia Syndrome" EXACT
    "SC phocomelia syndrome" EXACT
Secondary IDs
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GARD:7387
MESH:C535687
MIM:268300
NCI:C4681
ORDO:3103
SNOMEDCT_US_2023_03_01:48718006
UMLS_CUI:C0392475