{"Name":"Osteofibrous dysplasia","DiseaseID__c":"GARD:0010887","id":10887,"encodedName":"osteofibrous-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Osteofibrous dysplasia","Xref_IDs__c":"C4085248; C53970; C563276; C563787; MEDGEN:895748; MONDO:0011806; OMIM:607278; ORPHA:488265","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011806","Disease_Description__c":"A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.","GARD_Name__c":"Osteofibrous dysplasia","GARD_Synonym__c":"cortical fibrous dysplasia; kempson-campanacci lesion; ofd; osfd; ossifying fibroma of long bones; osteofibrous dysplasia of bone; tibia, bowing of, with pseudarthrosis and pectus excavatum","Curated_Disease_Description_Source__c":"GARD:0010887","Curated_Disease_Description__c":"Osteofibrous dysplasia is a rare, non-cancerous (benign) tumor that affects the long bones. It usually develops in children and adolescents. The most common location is the middle part of the tibia (shin), although the fibula (a smaller bone in the calf) and the long bones in the arm (humerus, radius, or ulna) may also be affected. In many cases, there are no symptoms and the condition is discovered when an x-ray is done for another reason (incidental finding). When symptoms are present, they most often include swelling and/or pain at the site of the tumor, a break in the bone (fracture) where it is weakened by the tumor, and/or bowing of the leg. The cause of Osteofibrous dysplasia is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:488265","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011806","ORPHANET_ID__c":"ORPHA:488265","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia osteofibrosa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia osteofibrosa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"Osteofibrous dysplasia is a rare, non-cancerous (benign) tumor that affects the long bones. It usually develops in children and adolescents. The most common location is the middle part of the tibia (shin), although the fibula (a smaller bone in the calf) and the long bones in the arm (humerus, radius, or ulna) may also be affected. In many cases, there are no symptoms and the condition is discovered when an x-ray is done for another reason (incidental finding). When symptoms are present, they most often include swelling and/or pain at the site of the tumor, a break in the bone (fracture) where it is weakened by the tumor, and/or bowing of the leg. The cause of Osteofibrous dysplasia is unknown.","Curated_Disease_Description_Source__c":"GARD:0010887","GARD_Synonym__c":"cortical fibrous dysplasia; kempson-campanacci lesion; ofd; osfd; ossifying fibroma of long bones; osteofibrous dysplasia of bone; tibia, bowing of, with pseudarthrosis and pectus excavatum","Name":"Osteofibrous dysplasia","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":"Childhood","Provided_By__c":"ORPHA:488265"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:488265"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010887","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4085248","Source__c":"C4085248","Xref__c":"C4085248"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563787","Source__c":"MONDO:0011806","Xref__c":"C563787"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895748","Source__c":"C4085248","Xref__c":"MEDGEN:895748"},{"URL__c":"https://www.orpha.net/en/disease/detail/488265","Source__c":"C4085248; MONDO:0011806","Xref__c":"ORPHA:488265"},{"URL__c":"https://www.omim.org/entry/607278","Source__c":"C4085248; MONDO:0011806; ORPHA:488265","Xref__c":"OMIM:607278"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563276","Source__c":"MONDO:0011806","Xref__c":"C563276"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C53970","Source__c":"MONDO:0011806","Xref__c":"C53970"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011806","Source__c":"GARD:0010887","Xref__c":"MONDO:0011806"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MET","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607278","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003038","HPO_Synonym__c":"Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae","HPO_Name__c":"Fibular hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607278","Feature__r":{"HPO_Description__c":"A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \\\"false joint\\\").","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005864","HPO_Synonym__c":"Pseudoarthroses","HPO_Name__c":"Pseudoarthrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607278","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607278","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["cortical fibrous dysplasia"," kempson-campanacci lesion"," ofd"," osfd"," ossifying fibroma of long bones"," osteofibrous dysplasia of bone"," tibia, bowing of, with pseudarthrosis and pectus excavatum"]}