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Term:Roberts syndrome
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Accession:DOID:5325 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Appelt-Gerken-Lenz Syndrome;   Long bone deficiencies associated with cleft lip-palate;   Pseudothalidomide Syndrome;   RBS;   Roberts-Sc Phocomelia Syndrome;   Sc Syndrome;   tetraphocomelia-cleft palate syndrome
 primary_id: MESH:C535687
 alt_id: OMIM:268300
 xref: GARD:7387;   NCI:C126326;   NCI:C4681;   ORDO:3103
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Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 JBrowse link 15 42,500,929 42,519,019 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      Roberts syndrome 1
Path 2
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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                Roberts syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.