{"Name":"Familial benign flecked retina","DiseaseID__c":"GARD:0018651","id":18651,"encodedName":"familial-benign-flecked-retina","IsDeleted":false,"Disease_Name_Full__c":"Familial benign flecked retina","Xref_IDs__c":"770434009; C1856718; C565564; DOID:0111677; MEDGEN:341605; MONDO:0009235; OMIM:228980; ORPHA:363989","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":2,"Description_Source__c":"MONDO:0009235","Disease_Description__c":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.","GARD_Name__c":"Familial benign flecked retina","GARD_Synonym__c":"fleck retina, familial benign","Curated_Disease_Description_Source__c":"MONDO:0009235","Curated_Disease_Description__c":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:363989","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009235","ORPHANET_ID__c":"ORPHA:363989","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retina moteada familiar benigna","Spanish_Description_Source__c":"ORPHA:363989","Spanish_Description__c":"La retina moteada benigna familiar es una distrofia retiniana poco frecuente caracterizada por lesiones bilaterales difusas blanquecinas-amarillentas similares a pecas, que se extienden hasta la periferia extrema de la retina sin afectar la región foveal, con un fenotipo clínico asintomático y ausencia de deficiencias electrofisiológicas.","Spanish_Disease_Name__c":"retina moteada familiar benigna","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":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.","Curated_Disease_Description_Source__c":"MONDO:0009235","GARD_Synonym__c":"fleck retina, familial benign","Name":"Familial benign flecked retina","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":"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:363989"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:363989"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/363989","Source__c":"C1856718; MONDO:0009235; ORPHA:363989","Xref__c":"ORPHA:363989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565564","Source__c":"MONDO:0009235","Xref__c":"C565564"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111677","Source__c":"MONDO:0009235","Xref__c":"DOID:0111677"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341605","Source__c":"C1856718","Xref__c":"MEDGEN:341605"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856718","Source__c":"C1856718","Xref__c":"C1856718"},{"URL__c":"https://www.omim.org/entry/228980","Source__c":"C1856718; MONDO:0009235; ORPHA:363989","Xref__c":"OMIM:228980"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770434009","Source__c":"C1856718","Xref__c":"770434009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009235","Source__c":"GARD:0018651","Xref__c":"MONDO:0009235"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLA2G5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:228980","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012045","HPO_Name__c":"Retinal flecks","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["fleck retina, familial benign"]}