{"Name":"Odontomatosis-aortae esophagus stenosis syndrome","DiseaseID__c":"GARD:0000238","id":238,"encodedName":"odontomatosis-aortae-esophagus-stenosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Odontomatosis-aortae esophagus stenosis syndrome","Xref_IDs__c":"716180009; C1834013; C537740; MEDGEN:320249; MONDO:0008118; OMIM:164330; ORPHA:2724","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008118","Disease_Description__c":"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.","GARD_Name__c":"Odontomatosis-aortae esophagus stenosis syndrome","GARD_Synonym__c":"boder syndrome; odontoma dysphagia syndrome; odontomatosis (multiple odontomas) with dysphagia","Curated_Disease_Description_Source__c":"MONDO:0008118","Curated_Disease_Description__c":"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2724","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008118","ORPHANET_ID__c":"ORPHA:2724","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de odontomatosis-estenosis de la aorta esofágica","Spanish_Description_Source__c":"ORPHA:2724","Spanish_Description__c":"Es un síndrome caracterizado por la presencia de odontomas (masa indiferenciada del esófago) y por disfagia grave.","Spanish_Disease_Name__c":"síndrome de odontomatosis-estenosis de la aorta esofágica","Spanish_GARD_Synonym__c":"síndrome de bader","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":"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.","Curated_Disease_Description_Source__c":"MONDO:0008118","GARD_Synonym__c":"boder syndrome; odontoma dysphagia syndrome; odontomatosis (multiple odontomas) with dysphagia","Name":"Odontomatosis-aortae esophagus stenosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation of Swallowing Disorders","Website__c":"https://swallowingdisorderfoundation.com/"}],"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":"Odontology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:2724"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2724","Source__c":"C1834013; MONDO:0008118; ORPHA:2724","Xref__c":"ORPHA:2724"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537740","Source__c":"MONDO:0008118","Xref__c":"C537740"},{"URL__c":"https://www.omim.org/entry/164330","Source__c":"C1834013; MONDO:0008118; ORPHA:2724","Xref__c":"OMIM:164330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320249","Source__c":"C1834013","Xref__c":"MEDGEN:320249"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834013","Source__c":"C1834013","Xref__c":"C1834013"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716180009","Source__c":"C1834013; MONDO:0008118","Xref__c":"716180009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008118","Source__c":"GARD:0000238","Xref__c":"MONDO:0008118"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002621","HPO_Synonym__c":"Atherosclerotic cardiovascular disease; Narrowing and hardening of arteries","HPO_Name__c":"Atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the myocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012819","HPO_Synonym__c":"Inflammation of heart muscle","HPO_Name__c":"Myocarditis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an odontoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011068","HPO_Name__c":"Odontoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Odontology"]},"synonyms":["boder syndrome"," odontoma dysphagia syndrome"," odontomatosis (multiple odontomas) with dysphagia"]}