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DO Term : Duane-radial ray syndrome [DOID:0060747] Disease Ontology

Namespace

disease_ontology

Obsolete

false

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.

synonyms:
607323,
DR syndrome,
ICD10CM:Q87.8,
OMIM:607323,
ORDO:93293,
Duane anomaly with radial ray abnormalities and deafness,
GARD:9182,
acrorenocular syndrome,
Okihiro syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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