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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/12393809, https://www.ncbi.nlm.nih.gov/pubmed/12843316, https://www.ncbi.nlm.nih.gov/pubmed/8882787
Xrefs

GARD:9182

ICD10CM:Q87.8

OMIM:607323

ORDO:93293

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 syndrome

is_a autosomal dominant disease

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