{"Name":"Tessier number 4 facial cleft","DiseaseID__c":"GARD:0016974","id":16974,"encodedName":"tessier-number-4-facial-cleft","IsDeleted":false,"Disease_Name_Full__c":"Tessier number 4 facial cleft","Xref_IDs__c":"C4703420; DOID:0111706; HP:0031576; MEDGEN:1642051; MONDO:0010850; ORPHA:141258","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:141258","Disease_Description__c":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.","GARD_Name__c":"Tessier number 4 facial cleft","GARD_Synonym__c":"facial clefting, oblique, type 1","Curated_Disease_Description_Source__c":"ORPHA:141258","Curated_Disease_Description__c":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:141258","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010850","ORPHANET_ID__c":"ORPHA:141258","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura facial número 4 de tessier","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hendidura facial número 4 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 oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.","Curated_Disease_Description_Source__c":"ORPHA:141258","GARD_Synonym__c":"facial clefting, oblique, type 1","Name":"Tessier number 4 facial cleft","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"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":"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:141258"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:141258"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111706","Source__c":"MONDO:0010850","Xref__c":"DOID:0111706"},{"URL__c":"https://www.orpha.net/en/disease/detail/141258","Source__c":"C4703420; MONDO:0010850; ORPHA:141258","Xref__c":"ORPHA:141258"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4703420","Source__c":"C4703420","Xref__c":"C4703420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1642051","Source__c":"C4703420","Xref__c":"MEDGEN:1642051"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0031576","Source__c":"C4703420","Xref__c":"HP:0031576"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010850","Source__c":"GARD:0016974","Xref__c":"MONDO:0010850"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPECC1L","GHR_URL__c":"https://medlineplus.gov/genetics/gene/specc1l","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["facial clefting, oblique, type 1"]}