{"Name":"Fleck corneal dystrophy","DiseaseID__c":"GARD:0016879","id":16879,"encodedName":"fleck-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Fleck corneal dystrophy","Xref_IDs__c":"417183007; C1562113; C563256; DOID:0060448; MEDGEN:287065; MONDO:0007376; OMIM:121850; ORPHA:98970","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007376","Disease_Description__c":"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.","GARD_Name__c":"Fleck corneal dystrophy","GARD_Synonym__c":"cfd; corneal dystrophy, francois-neetens speckled or flecked; corneal fleck dystrophy; fcd; franc'ois-neetens speckled corneal dystrophy; francois-neetens speckled corneal dystrophy; françois-neetens speckled corneal dystrophy","Curated_Disease_Description_Source__c":"ORPHA:98970","Curated_Disease_Description__c":"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98970","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007376","ORPHANET_ID__c":"ORPHA:98970","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal moteada","Spanish_Description_Source__c":"ORPHA:98970","Spanish_Description__c":"La distrofia corneal moteada (FCD) es una forma rara, generalmente asintomática, de distrofia corneal estromal (consulte este término) caracterizada por múltiples opacidades asintomáticas no progresivas, diseminadas por todo el estroma corneal, y que no tienen efecto en la agudeza visual.","Spanish_Disease_Name__c":"distrofia corneal moteada","Spanish_GARD_Synonym__c":"distrofia corneal moteada de françois-neetens; distrofia moteada de la córnea; fcd","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":"Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.","Curated_Disease_Description_Source__c":"ORPHA:98970","GARD_Synonym__c":"cfd; corneal dystrophy, francois-neetens speckled or flecked; corneal fleck dystrophy; fcd; franc'ois-neetens speckled corneal dystrophy; francois-neetens speckled corneal dystrophy; françois-neetens speckled corneal dystrophy","Name":"Fleck corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98970"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=417183007","Source__c":"C1562113; MONDO:0007376","Xref__c":"417183007"},{"URL__c":"https://www.omim.org/entry/121850","Source__c":"C1562113; MONDO:0007376; ORPHA:98970","Xref__c":"OMIM:121850"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1562113","Source__c":"C1562113","Xref__c":"C1562113"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=287065","Source__c":"C1562113","Xref__c":"MEDGEN:287065"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060448","Source__c":"MONDO:0007376","Xref__c":"DOID:0060448"},{"URL__c":"https://www.orpha.net/en/disease/detail/98970","Source__c":"C1562113; MONDO:0007376; ORPHA:98970","Xref__c":"ORPHA:98970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563256","Source__c":"MONDO:0007376","Xref__c":"C563256"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007376","Source__c":"GARD:0016879","Xref__c":"MONDO:0007376"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIKFYVE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:121850","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007962","HPO_Name__c":"Speckled corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:121850","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","Anterior segment of Eye","Pediatrics"]},"synonyms":["cfd"," corneal dystrophy, francois-neetens speckled or flecked"," corneal fleck dystrophy"," fcd"," franc'ois-neetens speckled corneal dystrophy"," francois-neetens speckled corneal dystrophy"," françois-neetens speckled corneal dystrophy"]}