{"Name":"Benign concentric annular macular dystrophy","DiseaseID__c":"GARD:0009887","id":9887,"encodedName":"benign-concentric-annular-macular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Benign concentric annular macular dystrophy","Xref_IDs__c":"719520001; C537833; C5561925; DOID:0061106; MEDGEN:1794135; MONDO:0007934; OMIM:153870; ORPHA:251287","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007934","Disease_Description__c":"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.","GARD_Name__c":"Benign concentric annular macular dystrophy","GARD_Synonym__c":"retinitis pigmentosa 91","Curated_Disease_Description_Source__c":"MONDO:0007934","Curated_Disease_Description__c":"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:251287","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007934","ORPHANET_ID__c":"ORPHA:251287","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia macular anular concéntrica benigna","Spanish_Description_Source__c":"ORPHA:251287","Spanish_Description__c":"La distrofia macular anular concéntrica benigna (BCAMD) es una distrofia macular progresiva autosómica dominante caracterizada por hipopigmentación parafoveal seguida de un fenotipo similar a la retinosis pigmentaria (nictalopía y pérdida de visión periférica) con una configuración tipo ojo de buey.","Spanish_Disease_Name__c":"distrofia macular anular concéntrica benigna","Spanish_GARD_Synonym__c":null,"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":"Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.","Curated_Disease_Description_Source__c":"MONDO:0007934","GARD_Synonym__c":"retinitis pigmentosa 91","Name":"Benign concentric annular macular dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:251287"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009887","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1794135","Source__c":"C5561925","Xref__c":"MEDGEN:1794135"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719520001","Source__c":"MONDO:0007934","Xref__c":"719520001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537833","Source__c":"MONDO:0007934","Xref__c":"C537833"},{"URL__c":"https://www.omim.org/entry/153870","Source__c":"C5561925; MONDO:0007934; ORPHA:251287","Xref__c":"OMIM:153870"},{"URL__c":"https://www.orpha.net/en/disease/detail/251287","Source__c":"C5561925; MONDO:0007934","Xref__c":"ORPHA:251287"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5561925","Source__c":"C5561925","Xref__c":"C5561925"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007934","Source__c":"GARD:0009887","Xref__c":"MONDO:0007934"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061106","Source__c":"MONDO:0007934","Xref__c":"DOID:0061106"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IMPG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:153870","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153870","Feature__r":{"HPO_Description__c":"Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007754","HPO_Name__c":"Macular dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153870","Feature__r":{"HPO_Description__c":"Increased amount of pigmentation in the fovea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008001","HPO_Name__c":"Foveal hyperpigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["retinitis pigmentosa 91"]}