{"Name":"Congenital ectropion uveae","DiseaseID__c":"GARD:0019169","id":19169,"encodedName":"congenital-ectropion-uveae","IsDeleted":false,"Disease_Name_Full__c":"Congenital ectropion uveae","Xref_IDs__c":"C1303012; MEDGEN:724517; MONDO:0019630; ORPHA:91491","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019630","Disease_Description__c":"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.","GARD_Name__c":"Congenital ectropion uveae","GARD_Synonym__c":"congenital iris ectropion","Curated_Disease_Description_Source__c":"MONDO:0019630","Curated_Disease_Description__c":"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:91491","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019630","ORPHANET_ID__c":"ORPHA:91491","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ectropión uveal congénito","Spanish_Description_Source__c":"ORPHA:91491","Spanish_Description__c":"El ectropión uveal congénito es un defecto raro, genético, no sindrómico del desarrollo del ojo caracterizado por la presencia de epitelio pigmentario del iris en la superficie anterior del iris, inserción anteriorizada del iris, disgenesia angular y glaucoma progresivo de ángulo abierto (este último puede presentarse en la infancia o desarrollarse más tarde en la vida). Los afectados pueden presentar dolores de cabeza, dolor ocular, fotofobia y enrojecimiento, lagrimeo y / o inflamación del ojo. A menudo puede asociarse con neurofibromatosis y ocasionalmente con otras anomalías oculares.","Spanish_Disease_Name__c":"ectropión uveal congénito","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0019630","GARD_Synonym__c":"congenital iris ectropion","Name":"Congenital ectropion uveae","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":"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"},{"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":"Neonatal","Provided_By__c":"ORPHA:91491"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/91491","Source__c":"C1303012; MONDO:0019630; ORPHA:91491","Xref__c":"ORPHA:91491"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1303012","Source__c":"C1303012","Xref__c":"C1303012"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=724517","Source__c":"C1303012","Xref__c":"MEDGEN:724517"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019630","Source__c":"GARD:0019169","Xref__c":"MONDO:0019630"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400965007","Source__c":"C1303012","Xref__c":"400965007"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["congenital iris ectropion"]}