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Human Disease

Duane-radial ray syndrome

Term ID
DOID:0060747
Synonyms
  • acrorenocular syndrome
  • DR syndrome
  • Duane anomaly with radial ray abnormalities and deafness
  • Okihiro syndrome
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. (3)
References
Ontology
Human Disease   ( DOID:0060747 )
Relationships
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Genes Involved
Zebrafish Models