MSeqDR Mitochondrial Disease Portal


 
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cranial nerve and nuclear aplasia (MONDO:0020132)
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nuclear oculomotor paralysis (MONDO:0015083)
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syndrome with a symptomatic strabismus (MONDO:0020253)
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syndromic disease (MONDO:0002254)
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Duane retraction syndrome ()

       Child Nodes:
........expandDuane retraction syndrome 2 ()
........expandDuane retraction syndrome 3 with or without deafness ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7473
Name:Duane retraction syndrome
Definition:Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
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Synonyms:DRS; Duane anomaly; Duane retraction syndrome; Duane syndrome; Duane's syndrome; DURS; retraction syndrome; Stilling-Turk-Duane syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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