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Details
Link-It Detail - Disease - Duane Retraction Syndrome
Debug Stats
  • ### Total Build Time: 22 ms 25.788 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 348 bytes
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  • Reload Stats
Disease (1)
Duane Retraction Syndrome C0013261
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Eye Diseases, Hereditary C0015398
img Ocular Motility Disorders C0028850
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Eye Diseases, Hereditary C0015398
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153983img Eye Diseases, Hereditary C0015398
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102664img Ocular Motility Disorders C0028850
img Eye Diseases C0015397img Ocular Motility Disorders C00288503img Ocular Motility Disorders C0028850
Relationships (26)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 1
diso_​to_​diso : 20
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 10
alias_​of : 1
classifies : 1
isa : 2
manifestation_​of : 8
mapped_​to : 4
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT26img Muscle of orbit C0028863
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_PHEN23img genetic aspects C0017399
DISO_to_ANAT22img Muscle of orbit C0028863
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_CHEM15img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO11img Abducens Nerve Diseases C0271355
DISO_to_PHYS10img Mutation C0026882
DISO_to_DISO8img Esotropia C0014877
DISO_to_DISOmapped_toimg 1 duanes syndrome type C1263871
DISO_to_DISOmapped_toimg BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME C1838346
DISO_to_DISOmanifestation_ofimg Clinical variability C1842176
DISO_to_DISOmanifestation_ofimg Congenital strabismus C0521579
DISO_to_DISOalias_ofimg Duane Retraction Syndrome C0013261
DISO_to_DISOisaimg Duane syndrome with vertical deviation C1532656
DISO_to_DISOmapped_toimg Duane syndrome, type 2 C1263872
DISO_to_DISOisaimg Duane syndrome, type 3 C1263873
DISO_to_DISOmanifestation_ofimg Globe retraction and deviation on adduction C1846464
DISO_to_DISOmanifestation_ofimg Impaired convergence C1846466
DISO_to_DISOmanifestation_ofimg Impaired ocular abduction C1846462
DISO_to_DISOmanifestation_ofimg Impaired ocular adduction C1846463
DISO_to_DISOmanifestation_ofimg May be associated with other anomalies (e.g. Okihiro syndrome (607323), Wildervanck syndrome (314600)) C1852010
DISO_to_DISOclassifiesimg Other disease of eye C0497217
DISO_to_DISOmanifestation_ofimg Palpebral fissure narrowing on adduction C1846465
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0013261
img OMIM, Score=1000, UMLKSK CUI: C0013261
HumanSALL16299sal-like 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0013261
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013261Duane Retraction Syndrome0self