{"Name":"Oligocone trichromacy","DiseaseID__c":"GARD:0018925","id":18925,"encodedName":"oligocone-trichromacy","IsDeleted":false,"Disease_Name_Full__c":"Oligocone trichromacy","Xref_IDs__c":"722066001; C4302876; MEDGEN:928545; MONDO:0019151; ORPHA:75378","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0019151","Disease_Description__c":"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.","GARD_Name__c":"Oligocone trichromacy","GARD_Synonym__c":"oligocone syndrome","Curated_Disease_Description_Source__c":"MONDO:0019151","Curated_Disease_Description__c":"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:75378","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019151","ORPHANET_ID__c":"ORPHA:75378","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tricromacia oligocónica","Spanish_Description_Source__c":"ORPHA:75378","Spanish_Description__c":"Es una forma poco frecuente y no progresiva del síndrome de disfunción de los conos caracterizada por una reducción de la agudeza visual, una apariencia normal del fondo de ojo y respuestas de conos ausentes o reducidas en el electrorretinograma (ERG). En contraste con todas las otras formas de disfunción de conos, la visión de color es normal.","Spanish_Disease_Name__c":"tricromacia oligocónica","Spanish_GARD_Synonym__c":"síndrome de oligoconos","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 non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.","Curated_Disease_Description_Source__c":"MONDO:0019151","GARD_Synonym__c":"oligocone syndrome","Name":"Oligocone trichromacy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:75378"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:75378"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:75378"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:75378"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928545","Source__c":"C4302876","Xref__c":"MEDGEN:928545"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722066001","Source__c":"C4302876; MONDO:0019151","Xref__c":"722066001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302876","Source__c":"C4302876","Xref__c":"C4302876"},{"URL__c":"https://www.orpha.net/en/disease/detail/75378","Source__c":"C4302876; MONDO:0019151; ORPHA:75378","Xref__c":"ORPHA:75378"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019151","Source__c":"GARD:0018925","Xref__c":"MONDO:0019151"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75378","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75378","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["oligocone syndrome"]}