{"Name":"Tessier number 5 facial cleft","DiseaseID__c":"GARD:0019968","id":19968,"encodedName":"tessier-number-5-facial-cleft","IsDeleted":false,"Disease_Name_Full__c":"Tessier number 5 facial cleft","Xref_IDs__c":"C0432119; HP:0031577; MEDGEN:609364; MONDO:0015416; ORPHA:141261","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:141261","Disease_Description__c":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.","GARD_Name__c":"Tessier number 5 facial cleft","GARD_Synonym__c":"infraorbital facial cleft - tessier cleft 5","Curated_Disease_Description_Source__c":"ORPHA:141261","Curated_Disease_Description__c":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.","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:141261","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015416","ORPHANET_ID__c":"ORPHA:141261","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura facial número 5 de tessier","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hendidura facial número 5 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 congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.","Curated_Disease_Description_Source__c":"ORPHA:141261","GARD_Synonym__c":"infraorbital facial cleft - tessier cleft 5","Name":"Tessier number 5 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":"Neonatal","Provided_By__c":"ORPHA:141261"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:141261"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/141261","Source__c":"C0432119; MONDO:0015416; ORPHA:141261","Xref__c":"ORPHA:141261"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432119","Source__c":"C0432119","Xref__c":"C0432119"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=609364","Source__c":"C0432119","Xref__c":"MEDGEN:609364"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015416","Source__c":"GARD:0019968","Xref__c":"MONDO:0015416"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0031577","Source__c":"C0432119","Xref__c":"HP:0031577"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254017009","Source__c":"C0432119","Xref__c":"254017009"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["infraorbital facial cleft - tessier cleft 5"]}