{"Name":"Cone-rod dystrophy 2","DiseaseID__c":"GARD:0006145","id":6145,"encodedName":"cone-rod-dystrophy-2","IsDeleted":false,"Disease_Name_Full__c":"Cone-rod dystrophy 2","Xref_IDs__c":"80328002; C162399; C3489532; DOID:0111005; MEDGEN:483485; MONDO:0007362","USA_Estimate__c":null,"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":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:0007362","Disease_Description__c":"Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.","GARD_Name__c":"Cone-rod dystrophy 2","GARD_Synonym__c":"cone-rod dystrophy caused by mutation in crx; cone-rod dystrophy type 2; cone-rod retinal dystrophy 2; cone-rod retinal dystrophy-2; cord2; crd2; crx cone-rod dystrophy; rcrd2; retinal cone-rod dystrophy 2","Curated_Disease_Description_Source__c":"GARD:0006145","Curated_Disease_Description__c":"Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina. These cells process light and allow people to see the accurate shape and color of objects. Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). CORD2 is caused by genetic changes in the CRX gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:120970","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007362","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":"Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina. These cells process light and allow people to see the accurate shape and color of objects. Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). CORD2 is caused by genetic changes in the CRX gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0006145","GARD_Synonym__c":"cone-rod dystrophy caused by mutation in crx; cone-rod dystrophy type 2; cone-rod retinal dystrophy 2; cone-rod retinal dystrophy-2; cord2; crd2; crx cone-rod dystrophy; rcrd2; retinal cone-rod dystrophy 2","Name":"Cone-rod dystrophy 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.org/"}],"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://raresource.nih.gov/diseases/filter/0006145","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80328002","Source__c":"MONDO:0007362","Xref__c":"80328002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C162399","Source__c":"C3489532; MONDO:0007362","Xref__c":"C162399"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483485","Source__c":"C3489532","Xref__c":"MEDGEN:483485"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111005","Source__c":"MONDO:0007362","Xref__c":"DOID:0111005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3489532","Source__c":"C3489532","Xref__c":"C3489532"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007362","Source__c":"GARD:0006145","Xref__c":"MONDO:0007362"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/crx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["cone-rod dystrophy caused by mutation in crx"," cone-rod dystrophy type 2"," cone-rod retinal dystrophy 2"," cone-rod retinal dystrophy-2"," cord2"," crd2"," crx cone-rod dystrophy"," rcrd2"," retinal cone-rod dystrophy 2"]}