{"Name":"Lethal congenital contracture syndrome","DiseaseID__c":"GARD:0012643","id":12643,"encodedName":"lethal-congenital-contracture-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lethal congenital contracture syndrome","Xref_IDs__c":"C5848326; DOID:0060558; MEDGEN:1863860; MONDO:0017436; OMIMPS:253310; ORPHA:294965","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017436","Disease_Description__c":"A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.","GARD_Name__c":"Lethal congenital contracture syndrome","GARD_Synonym__c":"lccs","Curated_Disease_Description_Source__c":"MONDO:0017436","Curated_Disease_Description__c":"A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294965","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017436","ORPHANET_ID__c":"ORPHA:294965","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de contractura congénita letal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de contractura congénita letal","Spanish_GARD_Synonym__c":"lccs","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":"A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.","Curated_Disease_Description_Source__c":"MONDO:0017436","GARD_Synonym__c":"lccs","Name":"Lethal congenital contracture 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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:CN239241"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS253310","Source__c":"MONDO:0017436","Xref__c":"OMIMPS:253310"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060558","Source__c":"MONDO:0017436","Xref__c":"DOID:0060558"},{"URL__c":"https://www.orpha.net/en/disease/detail/294965","Source__c":"C5848326; MONDO:0017436; ORPHA:294965","Xref__c":"ORPHA:294965"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1863860","Source__c":"C5848326","Xref__c":"MEDGEN:1863860"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848326","Source__c":"C5848326","Xref__c":"C5848326"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017436","Source__c":"GARD:0012643","Xref__c":"MONDO:0017436"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["lccs"]}