{"Name":"Tessier number 6 facial cleft","DiseaseID__c":"GARD:0019969","id":19969,"encodedName":"tessier-number-6-facial-cleft","IsDeleted":false,"Disease_Name_Full__c":"Tessier number 6 facial cleft","Xref_IDs__c":"C0432120; HP:0031578; MEDGEN:609365; MONDO:0015417; ORPHA:141265","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:141265","Disease_Description__c":"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.","GARD_Name__c":"Tessier number 6 facial cleft","GARD_Synonym__c":"infraorbital facial cleft - tessier cleft 6; tessier facial cleft number 6","Curated_Disease_Description_Source__c":"ORPHA:141265","Curated_Disease_Description__c":"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:141265","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015417","ORPHANET_ID__c":"ORPHA:141265","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura facial número 6 de tessier","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hendidura facial número 6 de tessier","Spanish_GARD_Synonym__c":null,"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 rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.","Curated_Disease_Description_Source__c":"ORPHA:141265","GARD_Synonym__c":"infraorbital facial cleft - tessier cleft 6; tessier facial cleft number 6","Name":"Tessier number 6 facial cleft","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:141265"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:141265"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=609365","Source__c":"C0432120","Xref__c":"MEDGEN:609365"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432120","Source__c":"C0432120","Xref__c":"C0432120"},{"URL__c":"https://www.orpha.net/en/disease/detail/141265","Source__c":"C0432120; MONDO:0015417; ORPHA:141265","Xref__c":"ORPHA:141265"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015417","Source__c":"GARD:0019969","Xref__c":"MONDO:0015417"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0031578","Source__c":"C0432120","Xref__c":"HP:0031578"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254018004","Source__c":"C0432120","Xref__c":"254018004"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["infraorbital facial cleft - tessier cleft 6"," tessier facial cleft number 6"]}