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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

In OMIM:
OMIM:607323 - DUANE-RADIAL RAY SYNDROME; DRRS

In Mondo Disease Ontology:
MONDO:0011812 - Duane-radial ray syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sall4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)