Duane-Radial Ray Syndrome
Disease ID: disease_node_20157
Connections displayed (default: 10).
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| Dbxref | GARD:9182, ICD10CM:Q87.8, MIM:607323, ORDO:93293 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | DR syndrome, Duane anomaly with radial ray abnormalities and deafness, Okihiro syndrome, acrorenocular syndrome |
| Doid Label | Duane-radial ray syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20157 |
| Doid Id | DOID_0060747 |
| Label | Duane-Radial Ray Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)