{"Name":"Kandori fleck retina","DiseaseID__c":"GARD:0016900","id":16900,"encodedName":"kandori-fleck-retina","IsDeleted":false,"Disease_Name_Full__c":"Kandori fleck retina","Xref_IDs__c":"765191009; C0271257; C562701; MEDGEN:78764; MONDO:0009236; OMIM:228990; ORPHA:99179","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":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009236","Disease_Description__c":"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.","GARD_Name__c":"Kandori fleck retina","GARD_Synonym__c":"fleck retina of kandori; kandori fleck retina syndrome; kandori's syndrome","Curated_Disease_Description_Source__c":"MONDO:0009236","Curated_Disease_Description__c":"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:99179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009236","ORPHANET_ID__c":"ORPHA:99179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retina moteada de kandori","Spanish_Description_Source__c":"ORPHA:99179","Spanish_Description__c":"La retina moteada de Kandori es una distrofia retiniana genética poco frecuente que se caracteriza por lesiones irregulares, claramente definidas, de color blanco-amarillento y tamaño variable que se distribuyen principalmente en la región ecuatorial de la retina nasal, con tendencia a la confluencia y que no están asociadas con ninguna anomalía vascular ni del nervio óptico. Con frecuencia se manifiestan con ceguera nocturna leve y estacionaria.","Spanish_Disease_Name__c":"retina moteada de kandori","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":"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.","Curated_Disease_Description_Source__c":"MONDO:0009236","GARD_Synonym__c":"fleck retina of kandori; kandori fleck retina syndrome; kandori's syndrome","Name":"Kandori fleck 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:99179"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99179"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:99179"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78764","Source__c":"C0271257","Xref__c":"MEDGEN:78764"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562701","Source__c":"MONDO:0009236","Xref__c":"C562701"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271257","Source__c":"C0271257","Xref__c":"C0271257"},{"URL__c":"https://www.orpha.net/en/disease/detail/99179","Source__c":"C0271257; MONDO:0009236; ORPHA:99179","Xref__c":"ORPHA:99179"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765191009","Source__c":"C0271257; MONDO:0009236","Xref__c":"765191009"},{"URL__c":"https://www.omim.org/entry/228990","Source__c":"C0271257; MONDO:0009236; ORPHA:99179","Xref__c":"OMIM:228990"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009236","Source__c":"GARD:0016900","Xref__c":"MONDO:0009236"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["fleck retina of kandori"," kandori fleck retina syndrome"," kandori's syndrome"]}