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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: acrorenocular syndrome, DR syndrome, Duane anomaly with radial ray abnormalities and deafness, Okihiro syndrome
Xenbase Genes
:
sall4
| MONDO:0011812 - Duane-radial ray syndrome |
| MIM:607323 - DUANE-RADIAL RAY SYNDROME; DRRS |
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)