Duane retraction syndrome 1

Preferred Label : Duane retraction syndrome 1;

Symbol : DURS1;

CISMeF acronym : DRS; DURS1; DUS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Duane syndrome; Retraction syndrome; DUS; Duane anomaly; DRS;

Description : Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision (Appukuttan et al., 1999). - Genetic Heterogeneity of Duane Retraction Syndrome Duane retraction syndrome-1 (DURS1) maps to chromosome 8q13. Duane retraction syndrome-2 (DURS2; 604356) is caused by mutation in the CHN1 gene (118423) on chromosome 2q31.;

Inheritance : Autosomal dominant;

Prefixed ID : %126800;

Details

Origin ID

126800;

UMLS CUI

C0994516;

Automatic exact mappings (from CISMeF team)
- DUANE'S SYNDROME [WHO-ART Included Term]
- Decision Regret Scale [NCIt concept]
- Delayed Release Dosage Form [NCIt concept]
- Disability Rating Scale Clinical Classification [NCIt concept]
- Duane Syndrome [NCIt concept]
- Duane anomaly [HPO term]
- Duane retraction syndrome [DO Concept]
- Duane retraction syndrome [ORDO Disease]
- Duane retraction syndrome 1 [HGNC gene]
- Duane's syndrome [ICD-11 More detail]
- Duane's syndrome [ICD-9 code]
- Duane's syndrome [MedDRA Preferred Term]
- Duane's syndrome (disorder) [SNOMED CT concept]
- Duane's syndrome, type 1 (disorder) [SNOMED CT concept]
- Duodenal ulcer [MedDRA Preferred Term]
- Physician [NCIt concept]
- Retrosternal pain (finding) [SNOMED CT concept]
- digital radiography [Radlex concept]
- duane retraction syndrome [MeSH Descriptor]
- duane retraction syndrome [MeSH concept]
- duane's syndrome [SNOMED Notion]
Broader ORDO disease(s)
- Duane retraction syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- duane retraction syndrome, type 1 [MeSH concept]
- type 1 Duane retraction syndrome [Disease (Nov.)]
DO Cross reference
- Duane retraction syndrome [DO Concept]
False automatic mappings
- Doctor [NCIt concept]
- Retinopathy due to diabetes mellitus (disorder) [SNOMED CT concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Duane anomaly [HPO term]
- Esotropia [HPO term]
- Globe retraction and deviation on adduction [HPO term]
- Impaired convergence [HPO term]
- Impaired ocular abduction [HPO term]
- Impaired ocular adduction [HPO term]
- Palpebral fissure narrowing on adduction [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Duane retraction syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- duane retraction syndrome, type 1 [MeSH concept]
- type 1 Duane retraction syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Duane retraction syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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