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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Duane-radial ray syndrome
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Accession:DOID:0060747 term browser browse the term
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. (DO)
Synonyms:exact_synonym: DR syndrome;   Duane anomaly with radial ray abnormalities and deafness;   Okihiro syndrome;   acrorenocular syndrome
 primary_id: OMIM:607323
 xref: GARD:9182;   ORDO:93293
For additional species annotation, visit the Alliance of Genome Resources.


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Duane-radial ray syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: Duane-radial ray syndrome ClinVar
OMIM
PMID:843249, PMID:8025439, PMID:8287186, PMID:11826030, PMID:12395297, PMID:12843316, PMID:12868480, PMID:15342710, PMID:16402211, PMID:16411190, PMID:25741868, PMID:26791099, PMID:28492532 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Duane-radial ray syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Duane-radial ray syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.