{"Name":"Median cleft of the upper lip and maxilla","DiseaseID__c":"GARD:0019966","id":19966,"encodedName":"median-cleft-of-the-upper-lip-and-maxilla","IsDeleted":false,"Disease_Name_Full__c":"Median cleft of the upper lip and maxilla","Xref_IDs__c":"C3697381; MEDGEN:784645; MONDO:0015413; ORPHA:141239","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015413","Disease_Description__c":"A rare median facial cleft characterized by a midline vertical cleft through the upper lip and premaxillary bone, which is highly variable in its extent and may also involve the nasal septum and central nervous system. Depending on the severity of the defect, associated manifestations include atrophy of midline structures, hypo-/hypertelorism, monophthalmia, proboscis, nasal deformity, median alveolar cleft, and short upper frenulum.","GARD_Name__c":"Median cleft of the upper lip and maxilla","GARD_Synonym__c":"median cleft lip and cleft of alveolar process of maxilla","Curated_Disease_Description_Source__c":"ORPHA:141239","Curated_Disease_Description__c":"Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:141239","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015413","ORPHANET_ID__c":"ORPHA:141239","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura mediana en labio superior y maxila","Spanish_Description_Source__c":"ORPHA:141239","Spanish_Description__c":"Es una hendidura facial mediana poco frecuente caracterizada por una hendidura vertical en la línea media de extensión variable que atraviesa el labio superior y el hueso premaxilar y que puede afectar también al tabique nasal y al sistema nervioso central. Dependiendo de la gravedad del defecto, las manifestaciones asociadas incluyen atrofia de las estructuras de la línea media, hipo-/ hipertelorismo, monoftalmia, probóscide, deformidad nasal, hendidura alveolar media y acortamiento del frenillo superior.","Spanish_Disease_Name__c":"hendidura mediana en labio superior y maxila","Spanish_GARD_Synonym__c":"hendidura de la parte media de la cara en estado medio; hendidura mediofacial en línea media","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 of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.","Curated_Disease_Description_Source__c":"ORPHA:141239","GARD_Synonym__c":"median cleft lip and cleft of alveolar process of maxilla","Name":"Median cleft of the upper lip and maxilla","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=784645","Source__c":"C3697381","Xref__c":"MEDGEN:784645"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3697381","Source__c":"C3697381","Xref__c":"C3697381"},{"URL__c":"https://www.orpha.net/en/disease/detail/141239","Source__c":"C3697381; MONDO:0015413; ORPHA:141239","Xref__c":"ORPHA:141239"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699700006","Source__c":"C3697381","Xref__c":"699700006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015413","Source__c":"GARD:0019966","Xref__c":"MONDO:0015413"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology"],"Account":["Craniofacial Anomalies"]},"synonyms":["median cleft lip and cleft of alveolar process of maxilla"]}