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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 retraction syndrome
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Accession:DOID:12557 term browser browse the term
Definition:A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Synonyms:exact_synonym: Acrorenoocular Syndrome;   Co Contractive Retraction Syndrome;   DR SYNDROME;   DRRS;   DRS;   DUS;   Duane Anomaly;   Duane Anomaly with Radial Abnormalities and Deafness;   Duane Syndrome;   Duane's Syndrome;   Duanes Syndrome;   Isolated Duane Anomaly;   Isolated Duane Retraction Syndrome;   Ocular Retraction Syndrome;   Ocular Retraction Syndromes;   Retraction Syndrome;   Retraction Syndromes;   Stilling Turk Duane syndrome;   Stilling-Turk-Duane syndromes;   acrorenoocular syndromes;   co-contractive retraction syndromes;   isolated Duane anomalies
 primary_id: MESH:D004370
 xref: ICD10CM:H50.81;   ICD9CM:378.71;   NCI:C84678;   OMIM:PS126800;   ORDO:233
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO DNA:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.410dupG (human)
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:nonsense mutation:cds:p.R905X (human)
DNA:frameshift mutation:cds:p.M640IfsX25 (human)
CTD PMID:16402211, PMID:30067223, PMID:12393809, PMID:26791099, PMID:12395297, PMID:16411190, PMID:17216607, PMID:23687435 RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus, type I, autosomal recessive
ClinVar
CTD
OMIM
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12149404, PMID:12161610, PMID:12400065, PMID:12529855, PMID:12567411, PMID:12630957, PMID:12938087, PMID:16219626, PMID:16283882, PMID:17089161, PMID:18372316, PMID:19429596, PMID:21325395, PMID:25741868, PMID:30311386, PMID:11175783 RGD:1598958 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
Duane Retraction Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane syndrome type 2
ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar
OMIM
PMID:10577917, PMID:10942112, PMID:17197532, PMID:18653847, PMID:20535495, PMID:21555619, PMID:28492532 NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 3 ClinVar
OMIM
PMID:27181683 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Duane retraction syndrome 6
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Duane Retraction Syndrome 1 1
        Duane Retraction Syndrome 2 1
        Duane Retraction Syndrome 3 1
        blepharophimosis, ptosis, and epicanthus inversus syndrome 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            cranial nerve disease 474
              ocular motility disease 174
                strabismus 59
                  Duane retraction syndrome 6
                    Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                    Duane Retraction Syndrome 1 1
                    Duane Retraction Syndrome 2 1
                    Duane Retraction Syndrome 3 1
                    blepharophimosis, ptosis, and epicanthus inversus syndrome 3
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.