{"Name":"Congenital achiasma","DiseaseID__c":"GARD:0021438","id":21438,"encodedName":"congenital-achiasma","IsDeleted":false,"Disease_Name_Full__c":"Congenital achiasma","Xref_IDs__c":"734031008; C4518345; MEDGEN:1392790; MONDO:0017929; ORPHA:324353","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Description_Source__c":"MONDO:0017929","Disease_Description__c":"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.","GARD_Name__c":"Congenital achiasma","GARD_Synonym__c":"congenital absence of optic chiasma","Curated_Disease_Description_Source__c":"MONDO:0017929","Curated_Disease_Description__c":"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:324353","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017929","ORPHANET_ID__c":"ORPHA:324353","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia congénita de quiasma","Spanish_Description_Source__c":"ORPHA:324353","Spanish_Description__c":"La agenesia congénita del quiasma es una malformación rara, genética y no sindrómica del nervio craneal y aplasia nuclear caracterizada por la ausencia congénita del quiasma óptico, resultante del fracaso de las fibras del nervio óptico para cruzar y decusar al hemisferio contralateral, conduciendo a una pérdida de visión, estrabismo y nistagmo congénito en la infancia.","Spanish_Disease_Name__c":"agenesia congénita de quiasma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.","Curated_Disease_Description_Source__c":"MONDO:0017929","GARD_Synonym__c":"congenital absence of optic chiasma","Name":"Congenital achiasma","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:324353"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324353"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/324353","Source__c":"C4518345; MONDO:0017929; ORPHA:324353","Xref__c":"ORPHA:324353"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1392790","Source__c":"C4518345","Xref__c":"MEDGEN:1392790"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734031008","Source__c":"C4518345; MONDO:0017929","Xref__c":"734031008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518345","Source__c":"C4518345","Xref__c":"C4518345"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017929","Source__c":"GARD:0021438","Xref__c":"MONDO:0017929"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["congenital absence of optic chiasma"]}