{"Name":"Autosomal dominant optic atrophy and peripheral neuropathy","DiseaseID__c":"GARD:0020686","id":20686,"encodedName":"autosomal-dominant-optic-atrophy-and-peripheral-neuropathy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant optic atrophy and peripheral neuropathy","Xref_IDs__c":"C4273829; MEDGEN:895207; MONDO:0016646; ORPHA:250932","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016646","Disease_Description__c":"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.","GARD_Name__c":"Autosomal dominant optic atrophy and peripheral neuropathy","GARD_Synonym__c":"autosomal dominant optic atrophy and peripheral neuropathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0016646","Curated_Disease_Description__c":"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:250932","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016646","ORPHANET_ID__c":"ORPHA:250932","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia óptica autosómica dominante y neuropatía periférica","Spanish_Description_Source__c":"ORPHA:250932","Spanish_Description__c":"Es una forma poco frecuente de atrofia óptica autosómica dominante (AOAD) caracterizada por una pérdida visual progresiva y aislada en la primera década de la vida, disminución de los reflejos en las extremidades inferiores y leve postura cerebelosa.","Spanish_Disease_Name__c":"atrofia óptica autosómica dominante y neuropatía periférica","Spanish_GARD_Synonym__c":null,"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 form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.","Curated_Disease_Description_Source__c":"MONDO:0016646","GARD_Synonym__c":"autosomal dominant optic atrophy and peripheral neuropathy syndrome","Name":"Autosomal dominant optic atrophy and peripheral neuropathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure ADOA Foundation","Website__c":"https://adoa.eu/en/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:250932"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273829","Source__c":"C4273829","Xref__c":"C4273829"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895207","Source__c":"C4273829","Xref__c":"MEDGEN:895207"},{"URL__c":"https://www.orpha.net/en/disease/detail/250932","Source__c":"C4273829; MONDO:0016646; ORPHA:250932","Xref__c":"ORPHA:250932"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016646","Source__c":"GARD:0020686","Xref__c":"MONDO:0016646"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717975006","Source__c":"C4273829","Xref__c":"717975006"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["autosomal dominant optic atrophy and peripheral neuropathy syndrome"]}