Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   DRRS;   Duane anomaly with radial abnormalities and deafness;   Duane anomaly with radial ray abnormalities and deafness;   Okihiro syndrome;   SALL4-RELATED CONDITION;   acro-renal-ocular syndrome;   acrorenocular syndrome
 broad_synonym: SALL4-RELATED DISORDER
 primary_id: OMIM:607323
 xref: GARD:9182;   MONDO:0011812;   ORDO:93293


show annotations for term's descendants           Sort by:
Duane-radial ray syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Duane-radial ray syndrome ClinVar PMID:11826030 PMID:15342710 NCBI chr 3:157,360,354...157,467,628
Ensembl chr 3:157,360,359...157,467,818 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO
ISS		 ClinVar Annotator: match by term: Duane-radial ray syndrome | ClinVar Annotator: match by term: SALL4-related condition | ClinVar Annotator: match by term: SALL4-related disorder
OMIM:607323		 OMIM
ClinVar
MouseDO
RGD		 PMID:843249 PMID:8025439 PMID:8287186 PMID:9536098 PMID:11826030 More... RGD:155631313 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Duane-radial ray syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                Duane-radial ray syndrome 2
paths to the root