{"Name":"Midline cleft of lower lip","DiseaseID__c":"GARD:0018756","id":18756,"encodedName":"midline-cleft-of-lower-lip","IsDeleted":false,"Disease_Name_Full__c":"Midline cleft of lower lip","Xref_IDs__c":"723383005; C4518460; MEDGEN:1389145; MONDO:0016062; ORPHA:2006","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016062","Disease_Description__c":"A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.","GARD_Name__c":"Midline cleft of lower lip","GARD_Synonym__c":"median cleft lip/mandibule; median cleft lower facial stage","Curated_Disease_Description_Source__c":"ORPHA:2006","Curated_Disease_Description__c":"Median cleft lip/mandibule is a rare anomaly defined as Cleft No. 30 in Tessier's classification.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2006","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016062","ORPHANET_ID__c":"ORPHA:2006","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura media de labio/mandíbula","Spanish_Description_Source__c":"ORPHA:2006","Spanish_Description__c":"Es una hendidura facial mediana poco frecuente caracterizada por una hendidura mediana del labio inferior (que varía en extensión desde una muesca en el bermellón hasta una hendidura completa que afecta a la lengua, al labio inferior y al mentón, y que se extiende hasta la región cervical), hendidura mediana de la mandíbula (que va desde una muesca hasta una hendidura completa) y anomalías de la lengua, incluyendo lengua bífida y frenillo lingual. Las características asociadas en casos graves pueden incluir ausencia del hioides, del cartílago tiroideo y del manubrio del esternón, así como atrofia de los músculos del cuello.","Spanish_Disease_Name__c":"hendidura media de labio/mandíbula","Spanish_GARD_Synonym__c":"hendidura mandibular media; hendidura mandibular y del labio inferior en la línea media; hendidura media de la parte inferior de la cara; hendidura media del labio inferior y la mandíbula","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":"Median cleft lip/mandibule is a rare anomaly defined as Cleft No. 30 in Tessier's classification.","Curated_Disease_Description_Source__c":"ORPHA:2006","GARD_Synonym__c":"median cleft lip/mandibule; median cleft lower facial stage","Name":"Midline cleft of lower lip","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:2006"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1389145","Source__c":"C4518460","Xref__c":"MEDGEN:1389145"},{"URL__c":"https://www.orpha.net/en/disease/detail/2006","Source__c":"C4518460; MONDO:0016062; ORPHA:2006","Xref__c":"ORPHA:2006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518460","Source__c":"C4518460","Xref__c":"C4518460"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723383005","Source__c":"C4518460; MONDO:0016062","Xref__c":"723383005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016062","Source__c":"GARD:0018756","Xref__c":"MONDO:0016062"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["median cleft lip/mandibule"," median cleft lower facial stage"]}