{"Name":"Congenital cystic eye","DiseaseID__c":"GARD:0010617","id":10617,"encodedName":"congenital-cystic-eye","IsDeleted":false,"Disease_Name_Full__c":"Congenital cystic eye","Xref_IDs__c":"C0158543; MEDGEN:510582; MONDO:0022825; ORPHA:519384","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:519384","Disease_Description__c":"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.","GARD_Name__c":"Congenital cystic eye","GARD_Synonym__c":"congenital anophthalmos with cyst; congenital cystic eyeball","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Congenital cystic eye is a rare eye condition that happens when a cyst grows in place of the eye. This happens when the eye (specifcally the optic vesicle) doesn't develop properly during pregnancy.  Sometimes, the eye may partially develop, which can cause further complications with the eye's structure (dysplastic ocular structure). The cyst replacing the eye is made up of tissue lined by substances that make up supportive nerve cells (neuroglial material). This problem usually only affects one eye and can present on its own or with other eye problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:519384","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0022825","ORPHANET_ID__c":"ORPHA:519384","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ojo quístico congénito","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"ojo quístico congénito","Spanish_GARD_Synonym__c":"anoftalmos congénito con quiste","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":"Congenital cystic eye is a rare eye condition that happens when a cyst grows in place of the eye. This happens when the eye (specifcally the optic vesicle) doesn't develop properly during pregnancy.  Sometimes, the eye may partially develop, which can cause further complications with the eye's structure (dysplastic ocular structure). The cyst replacing the eye is made up of tissue lined by substances that make up supportive nerve cells (neuroglial material). This problem usually only affects one eye and can present on its own or with other eye problems.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"congenital anophthalmos with cyst; congenital cystic eyeball","Name":"Congenital cystic eye","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:519384"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/519384","Source__c":"C0158543; MONDO:0022825; ORPHA:519384","Xref__c":"ORPHA:519384"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158543","Source__c":"C0158543","Xref__c":"C0158543"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=510582","Source__c":"C0158543","Xref__c":"MEDGEN:510582"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0022825","Source__c":"GARD:0010617","Xref__c":"MONDO:0022825"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58882000","Source__c":"C0158543","Xref__c":"58882000"}],"tags":{"Specialist":["Ophthalmology","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["congenital anophthalmos with cyst"," congenital cystic eyeball"]}