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ONTOLOGY REPORT - ANNOTATIONS


Term:Duane-radial ray syndrome
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Accession:DOID:0060747 term browser browse the term
Definition:An autosomal dominant disease 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
 alt_id: RDO:9004110
 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
RGD:7240710

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  disease 14759
    syndrome 4210
      Duane-radial ray syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                Duane-radial ray syndrome 1
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