{"Name":"BNAR syndrome","DiseaseID__c":"GARD:0010595","id":10595,"encodedName":"bnar-syndrome","IsDeleted":false,"Disease_Name_Full__c":"BNAR syndrome","Xref_IDs__c":"717940006; C2750433; C567672; MEDGEN:413305; MONDO:0012165; OMIM:608980; ORPHA:217266","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012165","Disease_Description__c":"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).","GARD_Name__c":"BNAR syndrome","GARD_Synonym__c":"bifid nose with or without anorectal and renal anomalies; bifid nose, anorectal anomaly, renal anomaly syndrome; bnar (bifid nose, anorectal anomaly, renal anomaly) syndrome","Curated_Disease_Description_Source__c":"MONDO:0012165","Curated_Disease_Description__c":"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.","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:217266","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012165","ORPHANET_ID__c":"ORPHA:217266","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome bnar","Spanish_Description_Source__c":"ORPHA:217266","Spanish_Description__c":"El síndrome BNAR es una anomalía congénita múltiple muy rara caracterizada por nariz bífida (véase este término) (con punta nasal bulbosa, pero no asociado a hipertelorismo) con o sin presencia de defectos anales (como ano anterior, estenosis rectal o atresia) y displasia renal (agenesia renal unilateral o bilateral, véanse estos términos) y sin discapacidad intelectual. Está relacionado fenotípicamente con el síndrome de Fraser y el síndrome oculotricoanal (véanse estos términos).","Spanish_Disease_Name__c":"síndrome bnar","Spanish_GARD_Synonym__c":"nariz bífida con o sin anomalías anorrectales y renales","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":"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.","Curated_Disease_Description_Source__c":"MONDO:0012165","GARD_Synonym__c":"bifid nose with or without anorectal and renal anomalies; bifid nose, anorectal anomaly, renal anomaly syndrome; bnar (bifid nose, anorectal anomaly, renal anomaly) syndrome","Name":"BNAR syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:217266"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:217266"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2750433"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010595","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1728","Source__c":"Gene Review","Xref__c":"NBK1728"},{"URL__c":"https://www.orpha.net/en/disease/detail/217266","Source__c":"C2750433; MONDO:0012165; ORPHA:217266","Xref__c":"ORPHA:217266"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2750433","Source__c":"C2750433","Xref__c":"C2750433"},{"URL__c":"https://www.omim.org/entry/608980","Source__c":"C2750433; MONDO:0012165; ORPHA:217266","Xref__c":"OMIM:608980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567672","Source__c":"MONDO:0012165","Xref__c":"C567672"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717940006","Source__c":"C2750433; MONDO:0012165","Xref__c":"717940006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=413305","Source__c":"C2750433","Xref__c":"MEDGEN:413305"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012165","Source__c":"GARD:0010595","Xref__c":"MONDO:0012165"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FREM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/frem1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:217266","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally short lingual frenulum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000200","HPO_Synonym__c":"Deficiency of lingual frenulum; Short lingual frenum; Short tongue frenulum; Short tongue frenum; Tight lingual frenulum","HPO_Name__c":"Short lingual frenulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217266","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the little toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010322","HPO_Synonym__c":"Abnormal 5th toe morphology; Abnormality of the 5th toe; Abnormality of the little toe; Abnormality of the pinkie toe; Abnormality of the pinky toe","HPO_Name__c":"Abnormal fifth toe morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217266","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anterior malposition of the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001545","HPO_Synonym__c":"Anteriorly displaced anus; Anus anteposition","HPO_Name__c":"Anteriorly placed anus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217266","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217266","HPO_Frequency__c":"Always (100%)","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:217266","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the anal opening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002025","HPO_Synonym__c":"Narrowing of anal opening","HPO_Name__c":"Anal stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217266","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012252","HPO_Name__c":"Abnormal respiratory system morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Gastroenterology","Otolaryngology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["bifid nose with or without anorectal and renal anomalies"," bifid nose, anorectal anomaly, renal anomaly syndrome"," bnar (bifid nose, anorectal anomaly, renal anomaly) syndrome"]}