{"Name":"Oculootodental syndrome","DiseaseID__c":"GARD:0016910","id":16910,"encodedName":"oculootodental-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Oculootodental syndrome","Xref_IDs__c":"770944002; C2750325; MEDGEN:413814; MONDO:0020494; ORPHA:99806","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020494","Disease_Description__c":"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.","GARD_Name__c":"Oculootodental syndrome","GARD_Synonym__c":"ood","Curated_Disease_Description_Source__c":"MONDO:0020494","Curated_Disease_Description__c":"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:99806","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020494","ORPHANET_ID__c":"ORPHA:99806","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome óculo-oto-dental","Spanish_Description_Source__c":"ORPHA:99806","Spanish_Description__c":"Es un síndrome de genes contiguos que comprende el síndrome oto-dental (caracterizado por globodoncia y déficit auditivo neurosensorial de altas frecuencias) asociado a anomalías oculares que incluyen, típicamente, coloboma coriorretiniano y del iris, así como, ocasionalmente, microcórnea, microftalmia, opacidad lenticular, coloboma del cristalino y atrofia del epitelio pigmentario del iris.","Spanish_Disease_Name__c":"síndrome óculo-oto-dental","Spanish_GARD_Synonym__c":"ood","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":"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.","Curated_Disease_Description_Source__c":"MONDO:0020494","GARD_Synonym__c":"ood","Name":"Oculootodental syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99806"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2750325","Source__c":"C2750325","Xref__c":"C2750325"},{"URL__c":"https://www.orpha.net/en/disease/detail/99806","Source__c":"C2750325; MONDO:0020494; ORPHA:99806","Xref__c":"ORPHA:99806"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=413814","Source__c":"C2750325","Xref__c":"MEDGEN:413814"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770944002","Source__c":"C2750325","Xref__c":"770944002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020494","Source__c":"GARD:0016910","Xref__c":"MONDO:0020494"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["ood"]}