{"Name":"Sternal cleft","DiseaseID__c":"GARD:0005012","id":5012,"encodedName":"sternal-cleft","IsDeleted":false,"Disease_Name_Full__c":"Sternal cleft","Xref_IDs__c":"54008006; C2931507; C537489; MEDGEN:419096; MONDO:0016066; ORPHA:2017","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0016066","Disease_Description__c":"A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.","GARD_Name__c":"Sternal cleft","GARD_Synonym__c":"bifid sternum; bipartite sternum; cleft sternum; sternoschisis; sternum bifidum","Curated_Disease_Description_Source__c":"MONDO:0016066","Curated_Disease_Description__c":"A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2017","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016066","ORPHANET_ID__c":"ORPHA:2017","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura esternal","Spanish_Description_Source__c":"ORPHA:2017","Spanish_Description__c":"La hendidura esternal es una malformación torácica congénita idiopática poco frecuente caracterizada por un defecto de fusión esternal, que puede ser completo o parcial (bien superior o inferior), que es por lo general asintomático durante el período neonatal (al margen de una protuberancia torácica paradójica en la línea media) pero que puede conllevar a disnea, tos, infecciones respiratorias frecuentes y un riesgo incrementado de trauma relacionado con lesiones cardiacas, pulmonares y de los grandes vasos sanguíneos, si no se trata.","Spanish_Disease_Name__c":"hendidura esternal","Spanish_GARD_Synonym__c":"celosomia torácica","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 rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.","Curated_Disease_Description_Source__c":"MONDO:0016066","GARD_Synonym__c":"bifid sternum; bipartite sternum; cleft sternum; sternoschisis; sternum bifidum","Name":"Sternal cleft","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2017"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2017"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54008006","Source__c":"C2931507; MONDO:0016066","Xref__c":"54008006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419096","Source__c":"C2931507","Xref__c":"MEDGEN:419096"},{"URL__c":"https://www.orpha.net/en/disease/detail/2017","Source__c":"C2931507; MONDO:0016066; ORPHA:2017","Xref__c":"ORPHA:2017"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931507","Source__c":"C2931507","Xref__c":"C2931507"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537489","Source__c":"MONDO:0016066","Xref__c":"C537489"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016066","Source__c":"GARD:0005012","Xref__c":"MONDO:0016066"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010309","Source__c":"C2931507","Xref__c":"HP:0010309"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2017","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010309","HPO_Synonym__c":"Sternal cleft","HPO_Name__c":"Bifid sternum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2017","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2017","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2017","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2017","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2017","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the sternum, also known as the breastbone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000766","HPO_Synonym__c":"Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies","HPO_Name__c":"Abnormal sternum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Pulmonology","Pediatrics"],"Disease Category":["Pulmonology"]},"synonyms":["bifid sternum"," bipartite sternum"," cleft sternum"," sternoschisis"," sternum bifidum"]}