{"Name":"Congenital pseudoarthrosis of clavicle","DiseaseID__c":"GARD:0016673","id":16673,"encodedName":"congenital-pseudoarthrosis-of-clavicle","IsDeleted":false,"Disease_Name_Full__c":"Congenital pseudoarthrosis of clavicle","Xref_IDs__c":"70794004; C0265565; C562548; MEDGEN:75577; MONDO:0007330; OMIM:118980; ORPHA:66630","USA_Estimate__c":null,"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":null,"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":3,"Description_Source__c":"MONDO:0007330","Disease_Description__c":"A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle.","GARD_Name__c":"Congenital pseudoarthrosis of clavicle","GARD_Synonym__c":"bipartite clavicle; clavicle pseudoarthrosis; congenital pseudarthrosis of the clavicle; congenital pseudoarthrosis of the clavicle; pseudoarthrosis of clavicle","Curated_Disease_Description_Source__c":"ORPHA:66630","Curated_Disease_Description__c":"Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:66630","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007330","ORPHANET_ID__c":"ORPHA:66630","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudoartrosis congénita de clavícula","Spanish_Description_Source__c":"ORPHA:66630","Spanish_Description__c":"Es una disostosis poco frecuente de origen genético caracterizada por una masa indolora sobre la clavícula como resultado de un fallo del proceso de unión de los núcleos de osificación de la clavícula.","Spanish_Disease_Name__c":"pseudoartrosis congénita de clavícula","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":"Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.","Curated_Disease_Description_Source__c":"ORPHA:66630","GARD_Synonym__c":"bipartite clavicle; clavicle pseudoarthrosis; congenital pseudarthrosis of the clavicle; congenital pseudoarthrosis of the clavicle; pseudoarthrosis of clavicle","Name":"Congenital pseudoarthrosis of clavicle","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:66630"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:66630"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:66630"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/118980","Source__c":"C0265565; MONDO:0007330; ORPHA:66630","Xref__c":"OMIM:118980"},{"URL__c":"https://www.orpha.net/en/disease/detail/66630","Source__c":"C0265565; MONDO:0007330; ORPHA:66630","Xref__c":"ORPHA:66630"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75577","Source__c":"C0265565","Xref__c":"MEDGEN:75577"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562548","Source__c":"MONDO:0007330","Xref__c":"C562548"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265565","Source__c":"C0265565","Xref__c":"C0265565"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70794004","Source__c":"C0265565; MONDO:0007330","Xref__c":"70794004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007330","Source__c":"GARD:0016673","Xref__c":"MONDO:0007330"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006585","Source__c":"C0265565","Xref__c":"HP:0006585"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:66630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006585","HPO_Synonym__c":"Clavicle pseudoarthrosis; Pseudoarthrosis of clavicle","HPO_Name__c":"Congenital pseudoarthrosis of the clavicle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66630","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66630","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001651","HPO_Synonym__c":"Heart tip and four chambers point towards right side of body; Thoracic situs inversus","HPO_Name__c":"Dextrocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66630","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000891","HPO_Name__c":"Cervical ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["bipartite clavicle"," clavicle pseudoarthrosis"," congenital pseudarthrosis of the clavicle"," congenital pseudoarthrosis of the clavicle"," pseudoarthrosis of clavicle"]}