{"Name":"Congenital oculomotor nerve palsy","DiseaseID__c":"GARD:0021836","id":21836,"encodedName":"congenital-oculomotor-nerve-palsy","IsDeleted":false,"Disease_Name_Full__c":"Congenital oculomotor nerve palsy","Xref_IDs__c":"1217207008; C5680054; MEDGEN:1804232; MONDO:0018599; ORPHA:440221","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:440221","Disease_Description__c":"A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.","GARD_Name__c":"Congenital oculomotor nerve palsy","GARD_Synonym__c":"congenital cniii lesion; congenital third cranial nerve palsy","Curated_Disease_Description_Source__c":"ORPHA:440221","Curated_Disease_Description__c":"A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:440221","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018599","ORPHANET_ID__c":"ORPHA:440221","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis congénita del nervio oculomotor","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"parálisis congénita del nervio oculomotor","Spanish_GARD_Synonym__c":"lesión congénita cniii; parálisis congénita benigna del tercer par craneal","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 ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.","Curated_Disease_Description_Source__c":"ORPHA:440221","GARD_Synonym__c":"congenital cniii lesion; congenital third cranial nerve palsy","Name":"Congenital oculomotor 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:440221"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/440221","Source__c":"C5680054; MONDO:0018599; ORPHA:440221","Xref__c":"ORPHA:440221"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1804232","Source__c":"C5680054","Xref__c":"MEDGEN:1804232"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680054","Source__c":"C5680054","Xref__c":"C5680054"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018599","Source__c":"GARD:0021836","Xref__c":"MONDO:0018599"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217207008","Source__c":"C5680054","Xref__c":"1217207008"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["congenital cniii lesion"," congenital third cranial nerve palsy"]}