{ "id": 7116, "label": "congenital heart disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005453", "properties": { "xrefs": [ "DOID:1682", "EFO:0005207", "ICD9:746.84", "ICD9:746.89", "ICD9:746.9", "MEDGEN:57501", "MESH:D006330", "NCIT:C95834", "SCTID:13213009", "UMLS:C0152021", "icd11.foundation:2004408087" ], "synonyms": [ "heart malformation", "congenital anomaly of heart", "congenital heart defect", "congenital heart defects", "Abnormality, heart", "abnormalities, heart", "defect, congenital heart", "defects, congenital heart", "heart abnormalities", "heart abnormality", "heart defect, congenital", "heart, malformation Of" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." }, "isLeaf": false, "isRoot": false, "child_count": 23, "parents": [ { "id": 6967, "label": "heart disorder", "isLeaf": false, "isRoot": false, "parents": [ 6736 ], "type_id": 0, "properties": { "xrefs": [ "DOID:114", "EFO:0003777", "ICD9:429.89", "ICD9:429.9", "ICD9:V47.2", "MEDGEN:5458", "MESH:D006331", "NCIT:C3079", "SCTID:56265001", "UMLS:C0018799", "icd11.foundation:1512587470" ], "synonyms": [ "cardiac disease", "disease of heart", "disease or disorder of heart", "disorder of heart", "disorder of heart/pericardium", "heart disease", "heart disease or disorder", "heart disorder", "heart trouble", "heart/pericardial disease", "heart/pericardial disease or disorder", "heart/pericardial disorder", "heart/pericardial trouble" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the heart and/or pericardium." }, "child_count": 34, "reference_id": "MONDO:0005267" }, { "id": 21294, "label": "congenital anomaly of cardiovascular system", "isLeaf": false, "isRoot": false, "parents": [ 6736, 20383 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:747.89", "ICD9:747.9", "MEDGEN:777113", "NCIT:C35729", "SCTID:9904008", "UMLS:C3665496" ], "synonyms": [ "cardiovascular system development disease", "congenital Abnormality of the circulatory system", "congenital anomaly of cardiovascular system", "congenital cardiovascular Abnormality", "congenital cardiovascular anomaly", "disorder of cardiovascular system development", "congenital cardiovascular disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease that has its basis in the disruption of cardiovascular system development." }, "child_count": 10, "reference_id": "MONDO:0024239" } ], "children": [ { "id": 2732, "label": "congenital heart defects, multiple types", "isLeaf": false, "isRoot": false, "parents": [ 7116 ], "type_id": 0, "properties": { "synonyms": [ "CHTD" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0000119" }, { "id": 4221, "label": "heart septal defect", "isLeaf": false, "isRoot": false, "parents": [ 7116 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1681", "ICD9:745.8", "ICD9:745.9", "MEDGEN:6752", "MESH:D006343", "NCIT:C84482", "SCTID:253273004", "UMLS:C0018816" ], "synonyms": [ "Cardiac septal defects", "congenital septal defect", "holes in the heart" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." }, "child_count": 3, "reference_id": "MONDO:0002078" }, { "id": 9831, "label": "tetralogy of fallot", "isLeaf": true, "isRoot": false, "parents": [ 7116, 17072, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6419", "GARD:0002245", "ICD10CM:Q21.3", "ICD9:745.2", "MEDGEN:21498", "MESH:D013771", "MedDRA:10016193", "NANDO:1200709", "NANDO:2100075", "NANDO:2200254", "NCIT:C84505", "NORD:1764", "OMIM:187500", "Orphanet:3303", "SCTID:86299006", "UMLS:C0039685", "icd11.foundation:90973426" ], "synonyms": [ "tetralogy of fallot", "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "Fallot tetralogy", "TOF", "tetralogy of FALLOT" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." }, "child_count": 0, "reference_id": "MONDO:0008542" }, { "id": 10180, "label": "heart defects-limb shortening syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7116, 7611, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002613", "MEDGEN:349142", "MESH:C535850", "OMIM:212135", "Orphanet:1354", "SCTID:721009008", "UMLS:C1859327" ], "synonyms": [ "heart defect and limb shortening syndrome", "cardioskeletal syndrome kuwaiti type", "cardioskeletal syndrome, KUWAITI type", "heart defects and limb shortening" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." }, "child_count": 0, "reference_id": "MONDO:0008917" }, { "id": 12614, "label": "tricuspid atresia", "isLeaf": true, "isRoot": false, "parents": [ 7116, 19774, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080169", "GARD:0005274", "HP:0011662", "MEDGEN:67034", "MESH:D018785", "MedDRA:10049767", "NANDO:1200706", "NANDO:1200962", "NANDO:2100073", "NANDO:2200251", "NCIT:C85202", "OMIM:605067", "Orphanet:1209", "SCTID:63042009", "UMLS:C0243002", "icd11.foundation:845891723" ], "synonyms": [ "congenital atresia of tricuspid valve", "tricuspid atresia", "tricuspid atresia (disease)", "tricuspid valve atresia", "congenital agenesis of the tricuspid valve" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." }, "child_count": 0, "reference_id": "MONDO:0011514" }, { "id": 12908, "label": "patent ductus arteriosus", "isLeaf": false, "isRoot": false, "parents": [ 7065, 7116, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13832", "GARD:0024824", "ICD10CM:Q25.0", "ICD9:747.0", "MEDGEN:4415", "MESH:D004374", "NANDO:2100084", "NANDO:2200264", "NCIT:C84492", "OMIMPS:607411", "Orphanet:466729", "Orphanet:706", "SCTID:83330001", "UMLS:C0013274", "icd11.foundation:1262462321" ], "synonyms": [ "PDA", "patent ductus arteriosus", "patent ductus botalli", "persistent patency of the arterial duct", "patency of the ductus arteriosus", "patent ductus arteriosus familial (type)" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." }, "child_count": 12, "reference_id": "MONDO:0011827" }, { "id": 16114, "label": "coronary artery congenital malformation", "isLeaf": false, "isRoot": false, "parents": [ 6748, 7116, 19327 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11843", "GARD:0001534", "ICD9:746.85", "MEDGEN:1612789", "MedDRA:10061060", "Orphanet:1081", "SCTID:28574005", "UMLS:C4531298", "icd11.foundation:902783759" ], "synonyms": [ "congenital anomaly of coronary artery", "congenital coronary artery anomaly", "coronary artery abnormality [ambiguous]", "coronary artery anomaly", "coronary artery anomaly, congenital" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A coronary artery disorder characterized by abnormal origin, course, or structure of one or more coronary arteries present at birth." }, "child_count": 27, "reference_id": "MONDO:0015203" }, { "id": 16136, "label": "mitral atresia disorder", "isLeaf": true, "isRoot": false, "parents": [ 5647, 7116, 19556 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003685", "HP:0011560", "MEDGEN:91035", "NCIT:C98992", "Orphanet:1205", "SCTID:23063005", "UMLS:C0344760", "icd11.foundation:6462604" ], "synonyms": [ "congenital atresia of mitral valve", "congenital mitral valve atresia", "mitral atresia", "mitral valve atresia" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital heart defect characterized by the complete atresia of the mitral valve." }, "child_count": 0, "reference_id": "MONDO:0015249" }, { "id": 18235, "label": "persistent truncus arteriosus", "isLeaf": false, "isRoot": false, "parents": [ 7116, 17072 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016627", "ICD10CM:Q20.0", "MEDGEN:52867", "MESH:D014339", "NANDO:1200693", "NANDO:2200261", "NCIT:C98880", "NORD:1800", "Orphanet:3384", "UMLS:C0041207", "icd11.foundation:1832500366" ], "synonyms": [ "TAC", "Truncus Arteriosus", "common aorticopulmonary trunk", "common arterial trunk", "common truncus arteriosus", "persistent truncus arteriosus", "persistent truncus arteriosus (disease)", "truncus arteriosus" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." }, "child_count": 4, "reference_id": "MONDO:0018072" }, { "id": 19269, "label": "dextro-looped transposition of the great arteries", "isLeaf": false, "isRoot": false, "parents": [ 2746, 7116, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060770", "GARD:0005476", "MEDGEN:758887", "NANDO:1200698", "OMIMPS:608808", "Orphanet:860", "UMLS:C3531771" ], "synonyms": [ "DTGA", "congenitally uncorrected transposition of the great arteries", "congenitally uncorrected transposition of the great vessels", "isolated ventriculoarterial discordance", "ventriculoarterial discordance with atrioventricular concordance" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." }, "child_count": 12, "reference_id": "MONDO:0019443" }, { "id": 19549, "label": "aortic valve atresia", "isLeaf": true, "isRoot": false, "parents": [ 7116, 17968 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019260", "HP:0010883", "MEDGEN:451016", "MedDRA:10066801", "NCIT:C98818", "Orphanet:95448", "SCTID:51442005", "UMLS:C0265843", "icd11.foundation:1700740306" ], "synonyms": [ "aortic valve atresia", "aortic valve atresia (disease)", "congenital aortic valve atresia", "congenital atresia of aortic valve" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." }, "child_count": 0, "reference_id": "MONDO:0019808" }, { "id": 19778, "label": "congenital pulmonary veins anomaly", "isLeaf": false, "isRoot": false, "parents": [ 7116 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019559", "MEDGEN:539575", "NCIT:C110942", "Orphanet:98729", "SCTID:111322000", "UMLS:C0265914" ], "synonyms": [ "congenital anomaly of pulmonary veins", "pulmonary vein abnormality" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." }, "child_count": 4, "reference_id": "MONDO:0020295" }, { "id": 23134, "label": "mehta lewis patton syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3108, 7116, 10068, 16310, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003450", "MEDGEN:419340", "MESH:C536147", "UMLS:C2931120" ], "synonyms": [ "congenital heart disease, ptosis, hypodontia, and craniosynostosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0043127" }, { "id": 23767, "label": "structural congenital heart disease, multiple types - GATA4", "isLeaf": false, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene." }, "child_count": 6, "reference_id": "MONDO:0100009" }, { "id": 24265, "label": "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes", "isLeaf": false, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "synonyms": [ "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes." }, "child_count": 4, "reference_id": "MONDO:0100540" }, { "id": 24266, "label": "GATA5-related congenital heart defects", "isLeaf": false, "isRoot": false, "parents": [ 7116 ], "type_id": 0, "properties": { "synonyms": [ "GATA5 related congenital heart defects" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal." }, "child_count": 1, "reference_id": "MONDO:0100541" }, { "id": 24282, "label": "RBFOX2-related congenital heart disorder", "isLeaf": true, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene." }, "child_count": 0, "reference_id": "MONDO:0100557" }, { "id": 24336, "label": "syndromic congenital heart disease", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7116 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions." }, "child_count": 16, "reference_id": "MONDO:0100614" }, { "id": 24726, "label": "ACTC1-related distal arthrogryposis with congenital heart disease", "isLeaf": true, "isRoot": false, "parents": [ 7116, 19660, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028025" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy." }, "child_count": 0, "reference_id": "MONDO:0700352" }, { "id": 25028, "label": "HAND1 related congenital heart defect", "isLeaf": true, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "synonyms": [ "HAND1-related congenital heart defect" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle." }, "child_count": 0, "reference_id": "MONDO:0800440" }, { "id": 25060, "label": "HAND2 related congenital heart defect", "isLeaf": true, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "synonyms": [ "DHAND", "DHAND2", "HAND2 related congenital heart defect", "HAND2-related congenital heart defect", "HLH transcription factor HAND2", "Hed", "Thing2", "bHLHa26" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect." }, "child_count": 0, "reference_id": "MONDO:0800476" }, { "id": 26520, "label": "TFAP2B-related congenital heart disease spectrum disorder", "isLeaf": false, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "synonyms": [ "TFAP2B-related PDA and Char syndrome spectrum disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency." }, "child_count": 4, "reference_id": "MONDO:1010098" }, { "id": 26566, "label": "PLD1-related congenital heart disease", "isLeaf": true, "isRoot": false, "parents": [ 7116, 24272 ], "type_id": 0, "properties": { "synonyms": [ "PLD1-related congenital heart disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital heart disease in which the cause of the disease is a mutation in the PLD1 gene." }, "child_count": 0, "reference_id": "MONDO:1010144" } ], "roots": [ { "id": 6967, "label": "heart disorder" }, { "id": 21294, "label": "congenital anomaly of cardiovascular system" } ] }