{"Name":"Paramedian nasal cleft","DiseaseID__c":"GARD:0016973","id":16973,"encodedName":"paramedian-nasal-cleft","IsDeleted":false,"Disease_Name_Full__c":"Paramedian nasal cleft","Xref_IDs__c":"204521002; C4759655; MEDGEN:1681273; MONDO:0015414; OMIM:614687; ORPHA:141242","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015414","Disease_Description__c":"Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.","GARD_Name__c":"Paramedian nasal cleft","GARD_Synonym__c":"alar cleft; alar rim cleft; isolated cleft of the ala nasi; isolated coloboma of the nose; tessier number 1 cleft","Curated_Disease_Description_Source__c":"MONDO:0015414","Curated_Disease_Description__c":"Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.","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:141242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015414","ORPHANET_ID__c":"ORPHA:141242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura nasal paramediana","Spanish_Description_Source__c":"ORPHA:141242","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo embrionario, caracterizado por coloboma uni- o bilateral de la nariz, que varía en gravedad desde una pequeña hendidura, que produce una desviación menor del tabique nasal, hasta fisuras del ala nasal de tamaño variable que pueden estar asociadas a pequeños quistes o senos en la línea media nasal. El defecto puede ser aislado o puede ocurrir junto con labio leporino y/u otras anomalías craneofaciales (p. ej., hipertelorismo, ensanchamiento de la raíz nasal, hendidura de la línea media). El dorso y el ápice nasales suelen estar bien preservados.","Spanish_Disease_Name__c":"hendidura nasal paramediana","Spanish_GARD_Synonym__c":"coloboma aislado de la nariz; fisura número 1 de tessier; hendidura aislada del ala nasal; hendidura alar; hendidura de la rima alar; hendidura del borde alar; hendidura número 1 de tessier; nariz hendida","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":"Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.","Curated_Disease_Description_Source__c":"MONDO:0015414","GARD_Synonym__c":"alar cleft; alar rim cleft; isolated cleft of the ala nasi; isolated coloboma of the nose; tessier number 1 cleft","Name":"Paramedian nasal cleft","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"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:141242"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:141242"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4759655","Source__c":"C4759655","Xref__c":"C4759655"},{"URL__c":"https://www.orpha.net/en/disease/detail/141242","Source__c":"C4759655; MONDO:0015414; ORPHA:141242","Xref__c":"ORPHA:141242"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1681273","Source__c":"C4759655","Xref__c":"MEDGEN:1681273"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204521002","Source__c":"C4759655; MONDO:0015414","Xref__c":"204521002"},{"URL__c":"https://www.omim.org/entry/614687","Source__c":"ORPHA:141242","Xref__c":"OMIM:614687"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015414","Source__c":"GARD:0016973","Xref__c":"MONDO:0015414"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614687","Feature__r":{"HPO_Description__c":"The presence of a notch in the margin of the ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003191","HPO_Synonym__c":"Ala nasi, cleft; Alar clefts; Cleft nasal alae; Cleft nostril; Notched nasal alae","HPO_Name__c":"Cleft ala nasi","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["alar cleft"," alar rim cleft"," isolated cleft of the ala nasi"," isolated coloboma of the nose"," tessier number 1 cleft"]}