{"Name":"X-linked retinal dysplasia","DiseaseID__c":"GARD:0004680","id":4680,"encodedName":"x-linked-retinal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"X-linked retinal dysplasia","Xref_IDs__c":"715240000; C4275241; MEDGEN:909011; MONDO:0010722; OMIM:312550","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:1852","Disease_Description__c":"A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.","GARD_Name__c":"X-linked retinal dysplasia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"X-linked retinal dysplasia is a rare genetic eye disease that can cause vision problems. The disease is caused by abnormal growth of the retina, which can lead to the formation of folds in the tissue. This can cause scarring and varying degrees of vision loss. The disease only affects the eyes and no other parts of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1852","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010722","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"X-linked retinal dysplasia is a rare genetic eye disease that can cause vision problems. The disease is caused by abnormal growth of the retina, which can lead to the formation of folds in the tissue. This can cause scarring and varying degrees of vision loss. The disease only affects the eyes and no other parts of the body.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"X-linked retinal dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/312550","Source__c":"MONDO:0010722","Xref__c":"OMIM:312550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=909011","Source__c":"C4275241","Xref__c":"MEDGEN:909011"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275241","Source__c":"C4275241","Xref__c":"C4275241"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715240000","Source__c":"C4275241; MONDO:0010722","Xref__c":"715240000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010722","Source__c":"GARD:0004680","Xref__c":"MONDO:0010722"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:312550","Feature__r":{"HPO_Description__c":"Abnormal growth and differentiation, structure and appearance of the retina present from birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007973","HPO_Synonym__c":"Dysplasia/hypoplasia of the retina; Retinal dysgenesis","HPO_Name__c":"Retinal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:312550","Feature__r":{"HPO_Description__c":"An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001493","HPO_Synonym__c":"Congenital retinal fold","HPO_Name__c":"Falciform retinal fold","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":[""]}