{"Name":"Cogan-Reese syndrome","DiseaseID__c":"GARD:0006125","id":6125,"encodedName":"cogan-reese-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cogan-Reese syndrome","Xref_IDs__c":"404633004; C1168173; C84644; DOID:0060217; MEDGEN:218910; MONDO:0020370; ORPHA:98980","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020370","Disease_Description__c":"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.","GARD_Name__c":"Cogan-Reese syndrome","GARD_Synonym__c":"iris nevus syndrome; nodular unilateral glaucoma","Curated_Disease_Description_Source__c":"GARD:0006125","Curated_Disease_Description__c":"Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. There have been some cases of Cogan-Reese syndrome reported in children. Symptoms may include a matted or smudged appearance to the surface of the iris; the development of small colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to the cornea (peripheral anterior synechiae); and/or increased pressure in the eye (glaucoma).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98980","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020370","ORPHANET_ID__c":"ORPHA:98980","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cogan-reese","Spanish_Description_Source__c":"ORPHA:98980","Spanish_Description__c":"Es una variante clínica del síndrome endotelial iridocorneal (ICE) que se caracteriza por una atrofia variable del iris, nódulos pigmentados y pedunculados en el iris, y anomalías corneales. El glaucoma secundario es también una complicación frecuente de esta enfermedad.","Spanish_Disease_Name__c":"síndrome de cogan-reese","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":"Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. There have been some cases of Cogan-Reese syndrome reported in children. Symptoms may include a matted or smudged appearance to the surface of the iris; the development of small colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to the cornea (peripheral anterior synechiae); and/or increased pressure in the eye (glaucoma).","Curated_Disease_Description_Source__c":"GARD:0006125","GARD_Synonym__c":"iris nevus syndrome; nodular unilateral glaucoma","Name":"Cogan-Reese syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Glaucoma Research Foundation","Website__c":"http://www.glaucoma.org"},{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84644","Source__c":"C1168173; MONDO:0020370","Xref__c":"C84644"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1168173","Source__c":"C1168173","Xref__c":"C1168173"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404633004","Source__c":"C1168173; MONDO:0020370","Xref__c":"404633004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=218910","Source__c":"C1168173","Xref__c":"MEDGEN:218910"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060217","Source__c":"MONDO:0020370","Xref__c":"DOID:0060217"},{"URL__c":"https://www.orpha.net/en/disease/detail/98980","Source__c":"C1168173; MONDO:0020370; ORPHA:98980","Xref__c":"ORPHA:98980"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020370","Source__c":"GARD:0006125","Xref__c":"MONDO:0020370"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["iris nevus syndrome"," nodular unilateral glaucoma"]}