{"Name":"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome","DiseaseID__c":"GARD:0020625","id":20625,"encodedName":"epibulbar-lipodermoid-preauricular-appendage-polythelia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome","Xref_IDs__c":"C5680927; MEDGEN:1808551; MONDO:0016510; ORPHA:231742","USA_Estimate__c":"1,000","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":"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016510","Disease_Description__c":"Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.","GARD_Name__c":"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome","GARD_Synonym__c":"epibulbar lipodermoid, preauricular appendage, polythelia syndrome","Curated_Disease_Description_Source__c":"ORPHA:231742","Curated_Disease_Description__c":"Epibulbar lipodermoid-preauricular appendages-polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231742","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016510","ORPHANET_ID__c":"ORPHA:231742","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lipodermoide epibulbar-apéndice preauricular-politelia","Spanish_Description_Source__c":"ORPHA:231742","Spanish_Description__c":"El síndrome lipodermoide epibulbar - apéndice preauricular - politelia es un síndrome del arco branquial descrito en siete hermanos de una familia danesa y se caracteriza por pezones supernumerarios (politelia), apéndices preauriculares y a menudo lipodermoides epibulbares o lipodermoides subconjuntivales.","Spanish_Disease_Name__c":"síndrome de lipodermoide epibulbar-apéndice preauricular-politelia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Epibulbar lipodermoid-preauricular appendages-polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.","Curated_Disease_Description_Source__c":"ORPHA:231742","GARD_Synonym__c":"epibulbar lipodermoid, preauricular appendage, polythelia syndrome","Name":"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231742"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231742"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/231742","Source__c":"C5680927; MONDO:0016510; ORPHA:231742","Xref__c":"ORPHA:231742"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680927","Source__c":"C5680927","Xref__c":"C5680927"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1808551","Source__c":"C5680927","Xref__c":"MEDGEN:1808551"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016510","Source__c":"GARD:0020625","Xref__c":"MONDO:0016510"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208480004","Source__c":"C5680927","Xref__c":"1208480004"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["epibulbar lipodermoid, preauricular appendage, polythelia syndrome"]}