{"Name":"Congenital abducens nerve palsy","DiseaseID__c":"GARD:0021837","id":21837,"encodedName":"congenital-abducens-nerve-palsy","IsDeleted":false,"Disease_Name_Full__c":"Congenital abducens nerve palsy","Xref_IDs__c":"C1302994; MEDGEN:724505; MONDO:0018600; ORPHA:440233","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:440233","Disease_Description__c":"A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.","GARD_Name__c":"Congenital abducens nerve palsy","GARD_Synonym__c":"benign congenital sixth cranial nerve palsy; congenital cnvi palsy; congenital sixth nerve palsy","Curated_Disease_Description_Source__c":"ORPHA:440233","Curated_Disease_Description__c":"A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:440233","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018600","ORPHANET_ID__c":"ORPHA:440233","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis congénita del nervio abducens","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"parálisis congénita del nervio abducens","Spanish_GARD_Synonym__c":"parálisis congénita benigna del sexto par craneal; parálisis congénita cnvi; parálisis congénita del nervio abducente","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.","Curated_Disease_Description_Source__c":"ORPHA:440233","GARD_Synonym__c":"benign congenital sixth cranial nerve palsy; congenital cnvi palsy; congenital sixth nerve palsy","Name":"Congenital abducens nerve palsy","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:440233"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/440233","Source__c":"C1302994; MONDO:0018600; ORPHA:440233","Xref__c":"ORPHA:440233"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=724505","Source__c":"C1302994","Xref__c":"MEDGEN:724505"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1302994","Source__c":"C1302994","Xref__c":"C1302994"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400945000","Source__c":"C1302994","Xref__c":"400945000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018600","Source__c":"GARD:0021837","Xref__c":"MONDO:0018600"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["benign congenital sixth cranial nerve palsy"," congenital cnvi palsy"," congenital sixth nerve palsy"]}