{"Name":"Cystoid macular edema","DiseaseID__c":"GARD:0016694","id":16694,"encodedName":"cystoid-macular-edema","IsDeleted":false,"Disease_Name_Full__c":"Cystoid macular edema","Xref_IDs__c":"193387007; 312921000; C0024440; C34794; DOID:4447; HP:0011505; MEDGEN:7435; MONDO:0007935; OMIM:153880; ORPHA:75381","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007935","Disease_Description__c":"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.","GARD_Name__c":"Cystoid macular edema","GARD_Synonym__c":"autosomal dominant cystoid macular edema; autosomal dominant cystoid macular oedema; cme - cystoid macular edema; cystoid macular dystrophy; dcmd; familial macular edema; familial macular oedema; macular dystrophy, dominant cystoid","Curated_Disease_Description_Source__c":"ORPHA:75381","Curated_Disease_Description__c":"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:75381","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007935","ORPHANET_ID__c":"ORPHA:75381","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia macular cistoide","Spanish_Description_Source__c":"ORPHA:75381","Spanish_Description__c":"La distrofia macular cistoide es un edema macular cistoide de herencia autosómica dominante que se manifiesta con atrofia macular, estrabismo y, a veces, retinosis pigmentaria pericentral (consulte este término). Está asociado con un pronóstico visual desfavorable.","Spanish_Disease_Name__c":"distrofia macular cistoide","Spanish_GARD_Synonym__c":"dcmd; dmcd; edema macular familiar; edema macular quístico autosómico dominante","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":"Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.","Curated_Disease_Description_Source__c":"ORPHA:75381","GARD_Synonym__c":"autosomal dominant cystoid macular edema; autosomal dominant cystoid macular oedema; cme - cystoid macular edema; cystoid macular dystrophy; dcmd; familial macular edema; familial macular oedema; macular dystrophy, dominant cystoid","Name":"Cystoid macular edema","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Childhood","Provided_By__c":"ORPHA:75381"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7435","Source__c":"C0024440","Xref__c":"MEDGEN:7435"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4447","Source__c":"MONDO:0007935","Xref__c":"DOID:4447"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34794","Source__c":"C0024440; MONDO:0007935","Xref__c":"C34794"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312921000","Source__c":"MONDO:0007935","Xref__c":"312921000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024440","Source__c":"C0024440","Xref__c":"C0024440"},{"URL__c":"https://www.orpha.net/en/disease/detail/75381","Source__c":"C0024440; MONDO:0007935; ORPHA:75381","Xref__c":"ORPHA:75381"},{"URL__c":"https://www.omim.org/entry/153880","Source__c":"C0024440; MONDO:0007935; ORPHA:75381","Xref__c":"OMIM:153880"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007935","Source__c":"GARD:0016694","Xref__c":"MONDO:0007935"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011505","Source__c":"C0024440","Xref__c":"HP:0011505"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=193387007","Source__c":"C0024440","Xref__c":"193387007"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:153880","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:153880","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153880","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153880","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153880","Feature__r":{"HPO_Description__c":"Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011505","HPO_Synonym__c":"Cystoid macular edema","HPO_Name__c":"Cystoid macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153880","Feature__r":{"HPO_Description__c":"A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007947","HPO_Name__c":"Pericentral retinitis pigmentosa","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["autosomal dominant cystoid macular edema"," autosomal dominant cystoid macular oedema"," cme - cystoid macular edema"," cystoid macular dystrophy"," dcmd"," familial macular edema"," familial macular oedema"," macular dystrophy, dominant cystoid"]}