{"Name":"X-linked cone-rod dystrophy 2","DiseaseID__c":"GARD:0001462","id":1462,"encodedName":"x-linked-cone-rod-dystrophy-2","IsDeleted":false,"Disease_Name_Full__c":"X-linked cone-rod dystrophy 2","Xref_IDs__c":"C1848139; C564717; DOID:0111006; MEDGEN:341161; MONDO:0010245; OMIM:300085","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300085","Disease_Description__c":"For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.","GARD_Name__c":"X-linked cone-rod dystrophy 2","GARD_Synonym__c":"cod2; cone dystrophy 2, x-linked; cone dystrophy x-linked 2; cone dystrophy, progressive x-linked, 2; cone-rod dystrophy x-linked 2; cone-rod dystrophy, x-linked, 2; cordx2; x-linked cone dystrophy 2; x-linked cone-rod dystrophy type 2","Curated_Disease_Description_Source__c":"OMIM:304020","Curated_Disease_Description__c":"X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors. Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings. X-linked cone-rod dystrophy 2 (CORDX2) is caused by mutations mapped to chromosome Xq27.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300085","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010245","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 cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors. Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings. X-linked cone-rod dystrophy 2 (CORDX2) is caused by mutations mapped to chromosome Xq27.","Curated_Disease_Description_Source__c":"OMIM:304020","GARD_Synonym__c":"cod2; cone dystrophy 2, x-linked; cone dystrophy x-linked 2; cone dystrophy, progressive x-linked, 2; cone-rod dystrophy x-linked 2; cone-rod dystrophy, x-linked, 2; cordx2; x-linked cone dystrophy 2; x-linked cone-rod dystrophy type 2","Name":"X-linked cone-rod dystrophy 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.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/0001462","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341161","Source__c":"C1848139","Xref__c":"MEDGEN:341161"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848139","Source__c":"C1848139","Xref__c":"C1848139"},{"URL__c":"https://www.omim.org/entry/300085","Source__c":"C1848139; MONDO:0010245","Xref__c":"OMIM:300085"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111006","Source__c":"MONDO:0010245","Xref__c":"DOID:0111006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564717","Source__c":"MONDO:0010245","Xref__c":"C564717"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010245","Source__c":"GARD:0001462","Xref__c":"MONDO:0010245"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300085","Feature__r":{"HPO_Description__c":"Inherited progressive cone degeneration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008020","HPO_Synonym__c":"Progressive cone degeneration; Progressive cone dystrophy","HPO_Name__c":"Cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300085","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["cod2"," cone dystrophy 2, x-linked"," cone dystrophy x-linked 2"," cone dystrophy, progressive x-linked, 2"," cone-rod dystrophy x-linked 2"," cone-rod dystrophy, x-linked, 2"," cordx2"," x-linked cone dystrophy 2"," x-linked cone-rod dystrophy type 2"]}