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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872
RGD:11535977
RGD:11535978
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      Roberts syndrome 1
Path 2
Term Annotations click to browse term
  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.