{"Name":"Fundus pulverulentus","DiseaseID__c":"GARD:0019613","id":19613,"encodedName":"fundus-pulverulentus","IsDeleted":false,"Disease_Name_Full__c":"Fundus pulverulentus","Xref_IDs__c":"770437002; C4749286; MEDGEN:1669231; MONDO:0020383; ORPHA:99004","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020383","Disease_Description__c":"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.","GARD_Name__c":"Fundus pulverulentus","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0020383","Curated_Disease_Description__c":"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99004","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020383","ORPHANET_ID__c":"ORPHA:99004","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fundus pulverulentus","Spanish_Description_Source__c":"ORPHA:99004","Spanish_Description__c":"El fundus pulverulentus es una forma poco frecuente de distrofia en patrón del epitelio pigmentario retiniano que se caracteriza por mácula de aspecto granular con moteado grueso y puntiforme del epitelio pigmentario retiniano dentro de la región macular. Se ha descrito asociación con neovascularización coroidea.","Spanish_Disease_Name__c":"fundus pulverulentus","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":"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.","Curated_Disease_Description_Source__c":"MONDO:0020383","Name":"Fundus pulverulentus","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749286","Source__c":"C4749286","Xref__c":"C4749286"},{"URL__c":"https://www.orpha.net/en/disease/detail/99004","Source__c":"C4749286; MONDO:0020383; ORPHA:99004","Xref__c":"ORPHA:99004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1669231","Source__c":"C4749286","Xref__c":"MEDGEN:1669231"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770437002","Source__c":"C4749286","Xref__c":"770437002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020383","Source__c":"GARD:0019613","Xref__c":"MONDO:0020383"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":[""]}