Duane retraction syndrome 3 with or without deafness
Go to external page http://purl.obolibrary.org/obo/MONDO_0014880
Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. [ GARD:0010691 ]
Synonyms: Duane retraction syndrome caused by mutation in MAFB DURS3 Duane retraction syndrome 3 with or without deafness MAFB Duane retraction syndrome
Term information
- UMLS:C4310752 (MONDO:equivalentTo)
- OMIM:617041 (MONDO:equivalentTo)
- MEDGEN:934719 (MONDO:equivalentTo)
- GARD:10691 (MONDO:GARD)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, mondo_top_grouping_disorder_of_visual_system, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, matrix_included, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease
http://linkedlifedata.com/resource/umls/id/C4310752
https://omim.org/entry/617041
http://identifiers.org/medgen/934719