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DOID:0060747 - Duane-radial ray syndrome
Disease Ontology 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.
Synonyms: DR syndrome, Duane anomaly with radial ray abnormalities and deafness, Okihiro syndrome, acrorenocular syndrome,
Echinobase Genes :
MIM:607323 - duane-radial ray syndrome; drrs |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)