{"Name":"Gigantiform cementoma","DiseaseID__c":"GARD:0017713","id":17713,"encodedName":"gigantiform-cementoma","IsDeleted":false,"Disease_Name_Full__c":"Gigantiform cementoma","Xref_IDs__c":"63937004; C202219; C3495361; C563017; MEDGEN:501159; MONDO:0007660; OMIM:137575; ORPHA:435329","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":3,"Description_Source__c":"MONDO:0007660","Disease_Description__c":"An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Gigantiform cementoma","GARD_Synonym__c":"cemental dysplasia, periapical; cementomas, familial multiple; familial multiple cementoma; familial ossifying fibroma; gigantiform cementoma, familial; hereditary ossifying fibroma (disease); multiple ossifying fibroma","Curated_Disease_Description_Source__c":"ORPHA:435329","Curated_Disease_Description__c":"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:435329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007660","ORPHANET_ID__c":"ORPHA:435329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibroma osificante familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fibroma osificante familiar","Spanish_GARD_Synonym__c":"cementoma gigantiforme familiar; fibroma osificante múltiple","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":"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.","Curated_Disease_Description_Source__c":"ORPHA:435329","GARD_Synonym__c":"cemental dysplasia, periapical; cementomas, familial multiple; familial multiple cementoma; familial ossifying fibroma; gigantiform cementoma, familial; hereditary ossifying fibroma (disease); multiple ossifying fibroma","Name":"Gigantiform cementoma","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:435329"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:435329"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:435329"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501159","Source__c":"C3495361","Xref__c":"MEDGEN:501159"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495361","Source__c":"C3495361","Xref__c":"C3495361"},{"URL__c":"https://www.orpha.net/en/disease/detail/435329","Source__c":"C3495361; MONDO:0007660; ORPHA:435329","Xref__c":"ORPHA:435329"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563017","Source__c":"MONDO:0007660","Xref__c":"C563017"},{"URL__c":"https://www.omim.org/entry/137575","Source__c":"C3495361; MONDO:0007660; ORPHA:435329","Xref__c":"OMIM:137575"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63937004","Source__c":"C3495361","Xref__c":"63937004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202219","Source__c":"C3495361","Xref__c":"C202219"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007660","Source__c":"GARD:0017713","Xref__c":"MONDO:0007660"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:137575","Feature__r":{"HPO_Description__c":"An odontogenic tumor of the cementum of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012328","HPO_Name__c":"Cementoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137575","Feature__r":{"HPO_Description__c":"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000692","HPO_Synonym__c":"Abnormal dental position; Abnormal teeth spacing; Abnormality of alignment of teeth; Abnormality of teeth spacing; Crooked teeth; Malaligned teeth; Malposition of teeth; Malpositioned teeth; Misalignment of teeth; Teeth, malposition","HPO_Name__c":"Tooth malposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137575","Feature__r":{"HPO_Description__c":"The presence of multiple impacted teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001571","HPO_Synonym__c":"Impacted teeth; Multiple impacted teeth","HPO_Name__c":"Multiple impacted teeth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Orthopedics","Pediatrics"],"Disease Category":["Cancer","Genetics"],"Cause":["Genetics"]},"synonyms":["cemental dysplasia, periapical"," cementomas, familial multiple"," familial multiple cementoma"," familial ossifying fibroma"," gigantiform cementoma, familial"," hereditary ossifying fibroma (disease)"," multiple ossifying fibroma"]}