{"Name":"Occult macular dystrophy","DiseaseID__c":"GARD:0017200","id":17200,"encodedName":"occult-macular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Occult macular dystrophy","Xref_IDs__c":"770667002; C3150833; DOID:0050578; HP:0030636; MEDGEN:462183; MONDO:0013316; OMIM:613587; ORPHA:247834","USA_Estimate__c":null,"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":null,"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:0013316","Disease_Description__c":"Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.","GARD_Name__c":"Occult macular dystrophy","GARD_Synonym__c":"occult macular dystrophy, susceptibility to; ocmd; ocmd - occult macular dystrophy; omd; omd - occult macular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0013316","Curated_Disease_Description__c":"Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:247834","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013316","ORPHANET_ID__c":"ORPHA:247834","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia macular oculta","Spanish_Description_Source__c":"ORPHA:247834","Spanish_Description__c":"La distrofia macular oculta es una distrofia retiniana, genética y poco frecuente, caracterizada por una disminución progresiva de la agudeza visual de forma bilateral, debido a una disfunción retiniana limitada a la mácula, asociada a angiografía con fluoresceína y fondo de ojo normales, y a electrorretinogramas multifocal y macular focal notablemente atenuados.","Spanish_Disease_Name__c":"distrofia macular oculta","Spanish_GARD_Synonym__c":"ocmd; omd","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":"Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.","Curated_Disease_Description_Source__c":"MONDO:0013316","GARD_Synonym__c":"occult macular dystrophy, susceptibility to; ocmd; ocmd - occult macular dystrophy; omd; omd - occult macular dystrophy","Name":"Occult macular dystrophy","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:247834"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462183","Source__c":"C3150833","Xref__c":"MEDGEN:462183"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150833","Source__c":"C3150833","Xref__c":"C3150833"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050578","Source__c":"MONDO:0013316","Xref__c":"DOID:0050578"},{"URL__c":"https://www.omim.org/entry/613587","Source__c":"C3150833; MONDO:0013316; ORPHA:247834","Xref__c":"OMIM:613587"},{"URL__c":"https://www.orpha.net/en/disease/detail/247834","Source__c":"C3150833; MONDO:0013316; ORPHA:247834","Xref__c":"ORPHA:247834"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013316","Source__c":"GARD:0017200","Xref__c":"MONDO:0013316"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030636","Source__c":"C3150833","Xref__c":"HP:0030636"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770667002","Source__c":"C3150833","Xref__c":"770667002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RP1L1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613587","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030468","HPO_Name__c":"Abnormal multifocal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613587","HPO_Frequency__c":"Very frequent (80-99%)","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:613587","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["occult macular dystrophy, susceptibility to"," ocmd"," ocmd - occult macular dystrophy"," omd"," omd - occult macular dystrophy"]}