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Summary Literature (0)
DOID:0060747 - Duane-radial ray syndrome

Disease Ontology 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.

Synonyms: DR syndrome, Duane anomaly with radial ray abnormalities and deafness, Okihiro syndrome, acrorenocular syndrome,

Xenbase Genes : sall4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011812 - Duane-radial ray syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)