{"Name":"Pellucid marginal degeneration","DiseaseID__c":"GARD:0011895","id":11895,"encodedName":"pellucid-marginal-degeneration","IsDeleted":false,"Disease_Name_Full__c":"Pellucid marginal degeneration","Xref_IDs__c":"C0339288; MEDGEN:573069; MONDO:0015298; ORPHA:137672","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:137672","Disease_Description__c":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.","GARD_Name__c":"Pellucid marginal degeneration","GARD_Synonym__c":"pellucid marginal corneal degeneration","Curated_Disease_Description_Source__c":"ORPHA:137672","Curated_Disease_Description__c":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:137672","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015298","ORPHANET_ID__c":"ORPHA:137672","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Degeneración marginal pelúcida","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"degeneración marginal pelúcida","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":"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.","Curated_Disease_Description_Source__c":"ORPHA:137672","GARD_Synonym__c":"pellucid marginal corneal degeneration","Name":"Pellucid marginal degeneration","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339288","Source__c":"C0339288","Xref__c":"C0339288"},{"URL__c":"https://www.orpha.net/en/disease/detail/137672","Source__c":"C0339288; MONDO:0015298; ORPHA:137672","Xref__c":"ORPHA:137672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=573069","Source__c":"C0339288","Xref__c":"MEDGEN:573069"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015298","Source__c":"GARD:0011895","Xref__c":"MONDO:0015298"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=231938007","Source__c":"C0339288","Xref__c":"231938007"}],"tags":{"Specialist":["Ophthalmology","Anterior segment of Eye"]},"synonyms":["pellucid marginal corneal degeneration"]}