{"Name":"Multifocal pattern dystrophy simulating fundus flavimaculatus","DiseaseID__c":"GARD:0019612","id":19612,"encodedName":"multifocal-pattern-dystrophy-simulating-fundus-flavimaculatus","IsDeleted":false,"Disease_Name_Full__c":"Multifocal pattern dystrophy simulating fundus flavimaculatus","Xref_IDs__c":"723408004; C4509881; MEDGEN:1376850; MONDO:0020382; ORPHA:99003","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020382","Disease_Description__c":"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.","GARD_Name__c":"Multifocal pattern dystrophy simulating fundus flavimaculatus","GARD_Synonym__c":"multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus; multifocal pattern dystrophy simulating stargardt disease","Curated_Disease_Description_Source__c":"MONDO:0020382","Curated_Disease_Description__c":"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020382","ORPHANET_ID__c":"ORPHA:99003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia en patrón multifocal simulando el fundus flavimaculatus","Spanish_Description_Source__c":"ORPHA:99003","Spanish_Description__c":"Es una distrofia en patrón del epitelio pigmentario retiniano caracterizada por múltiples motas irregulares de color amarillento, dispersas o agrupadas alrededor de la mácula, simulando la enfermedad de Stargardt. Por lo general, es asintomática hasta una edad avanzada, en la que los pacientes experimentan una pérdida lenta y progresiva de la visión.","Spanish_Disease_Name__c":"distrofia en patrón multifocal simulando el fundus flavimaculatus","Spanish_GARD_Synonym__c":"distrofia en patrón multifocal que simula la enfermedad de stargardt; distrofia en patrón multifocal simulando la enfermedad de stargardt","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, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.","Curated_Disease_Description_Source__c":"MONDO:0020382","GARD_Synonym__c":"multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus; multifocal pattern dystrophy simulating stargardt disease","Name":"Multifocal pattern dystrophy simulating fundus flavimaculatus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99003"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1376850","Source__c":"C4509881","Xref__c":"MEDGEN:1376850"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723408004","Source__c":"C4509881; MONDO:0020382","Xref__c":"723408004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509881","Source__c":"C4509881","Xref__c":"C4509881"},{"URL__c":"https://www.orpha.net/en/disease/detail/99003","Source__c":"C4509881; MONDO:0020382; ORPHA:99003","Xref__c":"ORPHA:99003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020382","Source__c":"GARD:0019612","Xref__c":"MONDO:0020382"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRPH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prph2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus"," multifocal pattern dystrophy simulating stargardt disease"]}