{"Name":"Primary condylar hyperplasia","DiseaseID__c":"GARD:0021966","id":21966,"encodedName":"primary-condylar-hyperplasia","IsDeleted":false,"Disease_Name_Full__c":"Primary condylar hyperplasia","Xref_IDs__c":"C5568570; MEDGEN:1799993; MONDO:0018793; ORPHA:477781","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:477781","Disease_Description__c":"A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.","GARD_Name__c":"Primary condylar hyperplasia","GARD_Synonym__c":"primary hyperplasia of mandibular condyle; type 1 condylar hyperplasia","Curated_Disease_Description_Source__c":"ORPHA:477781","Curated_Disease_Description__c":"A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:477781","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018793","ORPHANET_ID__c":"ORPHA:477781","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperplasia condilar primaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperplasia condilar primaria","Spanish_GARD_Synonym__c":"hiperplasia condilar tipo 1","Category_Linearization__c":"ORPHA:68329","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 temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.","Curated_Disease_Description_Source__c":"ORPHA:477781","GARD_Synonym__c":"primary hyperplasia of mandibular condyle; type 1 condylar hyperplasia","Name":"Primary condylar hyperplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"TMJ Association, Ltd.","Website__c":"https://tmj.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:477781"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568570","Source__c":"C5568570","Xref__c":"C5568570"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799993","Source__c":"C5568570","Xref__c":"MEDGEN:1799993"},{"URL__c":"https://www.orpha.net/en/disease/detail/477781","Source__c":"C5568570; MONDO:0018793; ORPHA:477781","Xref__c":"ORPHA:477781"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186726000","Source__c":"C5568570","Xref__c":"1186726000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018793","Source__c":"GARD:0021966","Xref__c":"MONDO:0018793"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:477781","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the temporomandibular joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010754","HPO_Synonym__c":"Abnormality of the jaw joint; Anomaly of the temporomandibular joint; Deformity of the jaw joint; Malformation of jaw joint","HPO_Name__c":"Abnormality of the temporomandibular joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477781","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009102","HPO_Synonym__c":"Absence of overlap of anterior upper and lower teeth; Anterior open bite; Anterior open bite between upper and lower teeth; Anterior openbite; AOB; Apertognathia malocclusion; Gap between upper and lower front teeth when biting","HPO_Name__c":"Anterior open-bite malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477781","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000306","HPO_Synonym__c":"Abnormality of the chin","HPO_Name__c":"Abnormality of the chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477781","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of a mandible condylar process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000077","HPO_Synonym__c":"Abnormality of mandible condylar process","HPO_Name__c":"Abnormal mandible condylar process morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477781","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001572","HPO_Synonym__c":"Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia","HPO_Name__c":"Macrodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:477781","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Pediatrics"]},"synonyms":["primary hyperplasia of mandibular condyle"," type 1 condylar hyperplasia"]}