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Term:Duane-radial ray syndrome
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Accession:DOID:0060747 term browser browse the term
Definition:A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: DR syndrome;   Duane anomaly with radial ray abnormalities and deafness;   Okihiro syndrome;   acrorenocular syndrome
 primary_id: OMIM:607323
 xref: GARD:9182;   ORDO:93293
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Duane-radial ray syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:8554872

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Path 1
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  disease 16017
    syndrome 6141
      Duane-radial ray syndrome 1
Path 2
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  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                Duane-radial ray syndrome 1
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