{"Name":"Patterned dystrophy of the retinal pigment epithelium","DiseaseID__c":"GARD:0009821","id":9821,"encodedName":"patterned-dystrophy-of-the-retinal-pigment-epithelium","IsDeleted":false,"Disease_Name_Full__c":"Patterned dystrophy of the retinal pigment epithelium","Xref_IDs__c":"C1868569; C536309; MEDGEN:357005; MONDO:0018973; ORPHA:63454","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":1,"Description_Source__c":"ORPHA:63454","Disease_Description__c":null,"GARD_Name__c":"Patterned dystrophy of the retinal pigment epithelium","GARD_Synonym__c":"mdpt1; pattern dystrophy","Curated_Disease_Description_Source__c":"StatPearls: https://pubmed.ncbi.nlm.nih.gov/35881734/","Curated_Disease_Description__c":"Pattern dystrophies of the retina are a slowly progressive heterogeneous group of primarily autosomal dominantly inherited macular diseases whose unifying element involves the deposition of pigment in the retinal pigment epithelium (RPE) of the macula.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:63454","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018973","ORPHANET_ID__c":"ORPHA:63454","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia en patrón del epitelio pigmentario de la retina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia en patrón del epitelio pigmentario de la retina","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":"Pattern dystrophies of the retina are a slowly progressive heterogeneous group of primarily autosomal dominantly inherited macular diseases whose unifying element involves the deposition of pigment in the retinal pigment epithelium (RPE) of the macula.","Curated_Disease_Description_Source__c":"StatPearls: https://pubmed.ncbi.nlm.nih.gov/35881734/","GARD_Synonym__c":"mdpt1; pattern dystrophy","Name":"Patterned dystrophy of the retinal pigment epithelium","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:63454"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868569","Source__c":"C1868569","Xref__c":"C1868569"},{"URL__c":"https://www.orpha.net/en/disease/detail/63454","Source__c":"C1868569; MONDO:0018973; ORPHA:63454","Xref__c":"ORPHA:63454"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536309","Source__c":"MONDO:0018973","Xref__c":"C536309"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357005","Source__c":"C1868569","Xref__c":"MEDGEN:357005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018973","Source__c":"GARD:0009821","Xref__c":"MONDO:0018973"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["mdpt1"," pattern dystrophy"]}