{"Name":"Congenital pseudoarthrosis of the limbs","DiseaseID__c":"GARD:0020015","id":20015,"encodedName":"congenital-pseudoarthrosis-of-the-limbs","IsDeleted":false,"Disease_Name_Full__c":"Congenital pseudoarthrosis of the limbs","Xref_IDs__c":"C5190522; C535762; MEDGEN:1680202; MONDO:0015525; ORPHA:157808","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":"ORPHA:157808","Disease_Description__c":"Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.","GARD_Name__c":"Congenital pseudoarthrosis of the limbs","GARD_Synonym__c":"congenital pseudarthrosis of the limbs; congenital pseudoarthrosis of limb","Curated_Disease_Description_Source__c":"ORPHA:157808","Curated_Disease_Description__c":"A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:157808","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015525","ORPHANET_ID__c":"ORPHA:157808","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudoartritis aislada de las extremidades","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"pseudoartritis aislada de las extremidades","Spanish_GARD_Synonym__c":"pseudoartrosis congénita aislada de las extremidades; pseudoartrosis congénita de las extremidades","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 rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.","Curated_Disease_Description_Source__c":"ORPHA:157808","GARD_Synonym__c":"congenital pseudarthrosis of the limbs; congenital pseudoarthrosis of limb","Name":"Congenital pseudoarthrosis of the limbs","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1680202","Source__c":"C5190522","Xref__c":"MEDGEN:1680202"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535762","Source__c":"MONDO:0015525","Xref__c":"C535762"},{"URL__c":"https://www.orpha.net/en/disease/detail/157808","Source__c":"C5190522; MONDO:0015525; ORPHA:157808","Xref__c":"ORPHA:157808"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190522","Source__c":"C5190522","Xref__c":"C5190522"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015525","Source__c":"GARD:0020015","Xref__c":"MONDO:0015525"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782689003","Source__c":"C5190522","Xref__c":"782689003"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital pseudarthrosis of the limbs"," congenital pseudoarthrosis of limb"]}