{"Name":"Absent tibia-polydactyly-arachnoid cyst syndrome","DiseaseID__c":"GARD:0005210","id":5210,"encodedName":"absent-tibia-polydactyly-arachnoid-cyst-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Absent tibia-polydactyly-arachnoid cyst syndrome","Xref_IDs__c":"733068001; C1832859; C563403; MEDGEN:318725; MONDO:0010981; OMIM:601027; ORPHA:3328","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010981","Disease_Description__c":"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.","GARD_Name__c":"Absent tibia-polydactyly-arachnoid cyst syndrome","GARD_Synonym__c":"holmes-collins syndrome; tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies","Curated_Disease_Description_Source__c":"MONDO:0010981","Curated_Disease_Description__c":"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.","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:3328","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010981","ORPHANET_ID__c":"ORPHA:3328","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tibia ausente-polidactilia-quiste aracnoideo","Spanish_Description_Source__c":"ORPHA:3328","Spanish_Description__c":"Es un trastorno muy poco frecuente de anomalías múltiples, incluyendo la ausencia o hipoplasia de la tibia.","Spanish_Disease_Name__c":"síndrome de tibia ausente-polidactilia-quiste aracnoideo","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":"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.","Curated_Disease_Description_Source__c":"MONDO:0010981","GARD_Synonym__c":"holmes-collins syndrome; tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies","Name":"Absent tibia-polydactyly-arachnoid cyst 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3328"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3328"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3328","Source__c":"C1832859; MONDO:0010981","Xref__c":"ORPHA:3328"},{"URL__c":"https://www.omim.org/entry/601027","Source__c":"C1832859; MONDO:0010981; ORPHA:3328","Xref__c":"OMIM:601027"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318725","Source__c":"C1832859","Xref__c":"MEDGEN:318725"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733068001","Source__c":"MONDO:0010981","Xref__c":"733068001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563403","Source__c":"MONDO:0010981","Xref__c":"C563403"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832859","Source__c":"C1832859","Xref__c":"C1832859"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010981","Source__c":"GARD:0005210","Xref__c":"MONDO:0010981"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["holmes-collins syndrome"," tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies"]}