{"Name":"Ankylosis of tooth","DiseaseID__c":"GARD:0000701","id":701,"encodedName":"ankylosis-of-tooth","IsDeleted":false,"Disease_Name_Full__c":"Ankylosis of tooth","Xref_IDs__c":"14901003; C0155930; D020254; DOID:12661; K03.5; MEDGEN:57843; MONDO:0008007; OMIM:157950; ORPHA:1077","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008007","Disease_Description__c":"A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.","GARD_Name__c":"Ankylosis of tooth","GARD_Synonym__c":"ankylosis (disease) of calcareous tooth; ankylosis of teeth; calcareous tooth ankylosis (disease); dental ankylosis; molar i reinclusion; tooth ankylosis","Curated_Disease_Description_Source__c":"MONDO:0008007","Curated_Disease_Description__c":"A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1077","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008007","ORPHANET_ID__c":"ORPHA:1077","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anquilosis dental","Spanish_Description_Source__c":"ORPHA:1077","Spanish_Description__c":"Es un trastorno odontológico poco común que se caracteriza por la pérdida del espacio del ligamento periodontal y la movilidad dental.","Spanish_Disease_Name__c":"anquilosis dental","Spanish_GARD_Synonym__c":"anquilosis de los dientes","Category_Linearization__c":"ORPHA:98026","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 odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.","Curated_Disease_Description_Source__c":"MONDO:0008007","GARD_Synonym__c":"ankylosis (disease) of calcareous tooth; ankylosis of teeth; calcareous tooth ankylosis (disease); dental ankylosis; molar i reinclusion; tooth ankylosis","Name":"Ankylosis of tooth","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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1077"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:1077"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1077"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1077"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57843","Source__c":"C0155930","Xref__c":"MEDGEN:57843"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0155930","Source__c":"C0155930","Xref__c":"C0155930"},{"URL__c":"https://www.omim.org/entry/157950","Source__c":"C0155930; MONDO:0008007","Xref__c":"OMIM:157950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020254","Source__c":"C0155930; MONDO:0008007","Xref__c":"D020254"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12661","Source__c":"MONDO:0008007","Xref__c":"DOID:12661"},{"URL__c":"https://www.orpha.net/en/disease/detail/1077","Source__c":"C0155930; MONDO:0008007; ORPHA:1077","Xref__c":"ORPHA:1077"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=14901003","Source__c":"C0155930; MONDO:0008007","Xref__c":"14901003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008007","Source__c":"GARD:0000701","Xref__c":"MONDO:0008007"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0033791","Source__c":"C0155930","Xref__c":"HP:0033791"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K03.5","Source__c":"MONDO:0008007","Xref__c":"K03.5"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1077","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["ankylosis (disease) of calcareous tooth"," ankylosis of teeth"," calcareous tooth ankylosis (disease)"," dental ankylosis"," molar i reinclusion"," tooth ankylosis"]}