{"Name":"Goldmann-Favre syndrome","DiseaseID__c":"GARD:0010781","id":10781,"encodedName":"goldmann-favre-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Goldmann-Favre syndrome","Xref_IDs__c":"232065000; C0339541; MEDGEN:87387; MONDO:0100289; ORPHA:53540","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0100289","Disease_Description__c":"Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).","GARD_Name__c":"Goldmann-Favre syndrome","GARD_Synonym__c":"enhanced s-cone syndrome 1; favre hyaloideoretinal degeneration; retinoschisis with early nyctalopia","Curated_Disease_Description_Source__c":"GARD:0010781","Curated_Disease_Description__c":"Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are \"red,\" \"blue,\" and \"green\" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by genetic changes in the NR2E3 gene and is inherited in an autosomal recessive fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:53540","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100289","ORPHANET_ID__c":"ORPHA:53540","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de goldmann-favre","Spanish_Description_Source__c":"ORPHA:53540","Spanish_Description__c":"El síndrome de Goldmann-Favre (GFS) es una distrofia vitreorretiniana caracterizada por la aparición precoz de ceguera nocturna, disminución de la agudeza visual bilateral, y datos típicos de fondo de ojo (cambios degenerativos progresivos en la pigmentación, edema macular, retinosquisis).","Spanish_Disease_Name__c":"síndrome de goldmann-favre","Spanish_GARD_Synonym__c":"escs; retinosquisis con nictalopía temprana; síndrome del incremento de conos s","Category_Linearization__c":"ORPHA:93890","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":"Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are \"red,\" \"blue,\" and \"green\" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by genetic changes in the NR2E3 gene and is inherited in an autosomal recessive fashion.","Curated_Disease_Description_Source__c":"GARD:0010781","GARD_Synonym__c":"enhanced s-cone syndrome 1; favre hyaloideoretinal degeneration; retinoschisis with early nyctalopia","Name":"Goldmann-Favre syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.org/"}],"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":"Adolescent","Provided_By__c":"ORPHA:53540"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:53540"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0339541"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1849394"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010781","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339541","Source__c":"C0339541","Xref__c":"C0339541"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87387","Source__c":"C0339541","Xref__c":"MEDGEN:87387"},{"URL__c":"https://www.orpha.net/en/disease/detail/53540","Source__c":"C0339541; MONDO:0100289; ORPHA:53540","Xref__c":"ORPHA:53540"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232065000","Source__c":"C0339541; MONDO:0100289","Xref__c":"232065000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100289","Source__c":"GARD:0010781","Xref__c":"MONDO:0100289"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NR2E3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["enhanced s-cone syndrome 1"," favre hyaloideoretinal degeneration"," retinoschisis with early nyctalopia"]}