{"Name":"Bifid nose","DiseaseID__c":"GARD:0000884","id":884,"encodedName":"bifid-nose","IsDeleted":false,"Disease_Name_Full__c":"Bifid nose","Xref_IDs__c":"787413007; C0221363; C535441; HP:0011803; MEDGEN:66379; MONDO:0000110; ORPHA:2695","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0000110","Disease_Description__c":"A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.","GARD_Name__c":"Bifid nose","GARD_Synonym__c":"bifid nasal bridge; cleft nasal bridge; cleft nose; indentation or clefting of the nose; indented bridge of nose","Curated_Disease_Description_Source__c":"GARD:0000884","Curated_Disease_Description__c":"A Bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and cartilage, resulting in 2 complete half noses. It is often associated with hypertelorbitism and midline clefts of the lip. The airway usually is adequate despite the cosmetic appearance associated with the condition. Both autosomal recessive and autosomal dominant inheritance of a Bifid nose has been observed. It may also occur with frontonasal dysplasia (a condition in with several possible findings limited to the head and neck), for which several inheritance patterns have been reported.","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:2695","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000110","ORPHANET_ID__c":"ORPHA:2695","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nariz bífida","Spanish_Description_Source__c":"ORPHA:2695","Spanish_Description__c":"Es una malformación congénita poco frecuente de la nariz y del cavum caracterizada por hendiduras nasales que varían desde un surco mínimamente perceptible en la columela, hasta una hendidura completa de los huesos y cartílago subyacentes (dando lugar a ''dos medias narices'') con una vía respiratoria, por lo general, adecuada. Se observa nariz bífida en la displasia frontonasal, pudiendo asociar otras malformaciones, tales como hiperteleorbitismo y hendiduras de la línea media del labio.","Spanish_Disease_Name__c":"nariz bífida","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 Bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and cartilage, resulting in 2 complete half noses. It is often associated with hypertelorbitism and midline clefts of the lip. The airway usually is adequate despite the cosmetic appearance associated with the condition. Both autosomal recessive and autosomal dominant inheritance of a Bifid nose has been observed. It may also occur with frontonasal dysplasia (a condition in with several possible findings limited to the head and neck), for which several inheritance patterns have been reported.","Curated_Disease_Description_Source__c":"GARD:0000884","GARD_Synonym__c":"bifid nasal bridge; cleft nasal bridge; cleft nose; indentation or clefting of the nose; indented bridge of nose","Name":"Bifid nose","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.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":"Antenatal","Provided_By__c":"ORPHA:2695"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2695"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535441","Source__c":"MONDO:0000110","Xref__c":"C535441"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66379","Source__c":"C0221363","Xref__c":"MEDGEN:66379"},{"URL__c":"https://www.orpha.net/en/disease/detail/2695","Source__c":"C0221363; MONDO:0000110; ORPHA:2695","Xref__c":"ORPHA:2695"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221363","Source__c":"C0221363","Xref__c":"C0221363"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787413007","Source__c":"C0221363","Xref__c":"787413007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000110","Source__c":"GARD:0000884","Xref__c":"MONDO:0000110"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011803","Source__c":"C0221363","Xref__c":"HP:0011803"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2695","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011803","HPO_Synonym__c":"Bifid nasal bridge; Indentation or clefting of the nose","HPO_Name__c":"Bifid nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2695","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bifid nasal bridge"," cleft nasal bridge"," cleft nose"," indentation or clefting of the nose"," indented bridge of nose"]}