| Metadata | |
|---|---|
| ID | DOID:0060747 |
| Name | Duane-radial ray syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12843316, https://www.ncbi.nlm.nih.gov/pubmed/12393809, https://www.ncbi.nlm.nih.gov/pubmed/8882787 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
acrorenocular syndrome [EXACT] DR syndrome [EXACT] Duane anomaly with radial ray abnormalities and deafness [EXACT] Okihiro syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |