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ZIRC
OBO ID: DOID:0060747
Term Name: Duane-radial ray syndrome Search Ontology:
Synonyms:
  • acrorenocular syndrome
  • DR syndrome
  • Duane anomaly with radial ray abnormalities and deafness
  • Okihiro syndrome
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. (3)
References:
Ontology: Human Disease   (DOID:0060747)
OTHER Duane-radial ray syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SALL4 Duane-radial ray syndrome 607323
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None