{"Name":"Central cloudy dystrophy of Francois","DiseaseID__c":"GARD:0016881","id":16881,"encodedName":"central-cloudy-dystrophy-of-francois","IsDeleted":false,"Disease_Name_Full__c":"Central cloudy dystrophy of Francois","Xref_IDs__c":"419074008; C1622427; C563262; MEDGEN:302006; MONDO:0009018; OMIM:217600; ORPHA:98972","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:0009018","Disease_Description__c":"Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.","GARD_Name__c":"Central cloudy dystrophy of Francois","GARD_Synonym__c":"ccdf; central cloudy corneal dystrophy of françois; central cloudy dystrophy of françois; francois' cloudy dystrophy of cornea","Curated_Disease_Description_Source__c":"ORPHA:98972","Curated_Disease_Description__c":"Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98972","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009018","ORPHANET_ID__c":"ORPHA:98972","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia nebulosa central de françois","Spanish_Description_Source__c":"ORPHA:98972","Spanish_Description__c":"La distrofia nebulosa central de François es una forma muy rara de distrofia corneal estromal (consulte este término) caracterizada por opacidades estromales redondeadas o poligonales, rodeadas de tejido claro, y por no tener, por lo general, efecto en la visión.","Spanish_Disease_Name__c":"distrofia nebulosa central de françois","Spanish_GARD_Synonym__c":"ccdf; distrofia corneal nebulosa central de françois","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":"Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.","Curated_Disease_Description_Source__c":"ORPHA:98972","GARD_Synonym__c":"ccdf; central cloudy corneal dystrophy of françois; central cloudy dystrophy of françois; francois' cloudy dystrophy of cornea","Name":"Central cloudy dystrophy of Francois","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":"Childhood","Provided_By__c":"ORPHA:98972"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1622427","Source__c":"C1622427","Xref__c":"C1622427"},{"URL__c":"https://www.orpha.net/en/disease/detail/98972","Source__c":"C1622427; MONDO:0009018; ORPHA:98972","Xref__c":"ORPHA:98972"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563262","Source__c":"MONDO:0009018","Xref__c":"C563262"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419074008","Source__c":"C1622427; MONDO:0009018","Xref__c":"419074008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=302006","Source__c":"C1622427","Xref__c":"MEDGEN:302006"},{"URL__c":"https://www.omim.org/entry/217600","Source__c":"C1622427; MONDO:0009018; ORPHA:98972","Xref__c":"OMIM:217600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009018","Source__c":"GARD:0016881","Xref__c":"MONDO:0009018"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:217600","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:217600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007881","HPO_Name__c":"Central corneal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["ccdf"," central cloudy corneal dystrophy of françois"," central cloudy dystrophy of françois"," francois' cloudy dystrophy of cornea"]}