{"Name":"Tarsal kink syndrome","DiseaseID__c":"GARD:0019672","id":19672,"encodedName":"tarsal-kink-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tarsal kink syndrome","Xref_IDs__c":"C1303000; MEDGEN:724510; MONDO:0020462; ORPHA:99170","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020462","Disease_Description__c":"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.","GARD_Name__c":"Tarsal kink syndrome","GARD_Synonym__c":"congenital tarsal kink","Curated_Disease_Description_Source__c":"MONDO:0020462","Curated_Disease_Description__c":"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99170","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020462","ORPHANET_ID__c":"ORPHA:99170","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del tarso torcido","Spanish_Description_Source__c":"ORPHA:99170","Spanish_Description__c":"El síndrome del tarso torcido es una malformación congénita poco frecuente del tarso que causa entropión. Se caracteriza por blefaroespasmo y ausencia de un pliegue del párpado superior que, si no se corrige quirúrgicamente, puede conducir a una ulceración de la córnea causada por el borde doblado del tarso superior o por las pestañas vueltas hacia adentro.","Spanish_Disease_Name__c":"síndrome del tarso torcido","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":"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.","Curated_Disease_Description_Source__c":"MONDO:0020462","GARD_Synonym__c":"congenital tarsal kink","Name":"Tarsal kink syndrome","estimateUsa":""}],"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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1303000","Source__c":"C1303000","Xref__c":"C1303000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=724510","Source__c":"C1303000","Xref__c":"MEDGEN:724510"},{"URL__c":"https://www.orpha.net/en/disease/detail/99170","Source__c":"C1303000; MONDO:0020462; ORPHA:99170","Xref__c":"ORPHA:99170"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400953008","Source__c":"C1303000","Xref__c":"400953008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020462","Source__c":"GARD:0019672","Xref__c":"MONDO:0020462"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["congenital tarsal kink"]}