{ "id": 24272, "label": "cardiogenetic disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100547", "properties": { "synonyms": [ "hereditary heart disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system." }, "isLeaf": false, "isRoot": false, "child_count": 73, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "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" } ], "children": [ { "id": 4213, "label": "ventricular septal defect", "isLeaf": false, "isRoot": false, "parents": [ 4221, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1657", "HP:0001629", "ICD10CM:Q21.0", "ICD9:745.4", "MEDGEN:42366", "MESH:D006345", "NANDO:2100087", "NANDO:2200270", "NCIT:C84506", "OMIMPS:614429", "Orphanet:1480", "SCTID:30288003", "UMLS:C0018818", "icd11.foundation:668140715" ], "synonyms": [ "VSD", "interventricular communication", "interventricular septal defect", "ventricular septal defect", "ventricular septal defect (disease)", "heart septal defects, ventricular", "ventricular septal defects" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." }, "child_count": 10, "reference_id": "MONDO:0002070" }, { "id": 6680, "label": "hypoplastic left heart syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7229, 19559, 24272, 24336 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9955", "GARD:0006739", "ICD10CM:Q23.4", "ICD9:746.7", "MEDGEN:57746", "MESH:D018636", "MedDRA:10021076", "NANDO:1200705", "NANDO:2100071", "NANDO:2200249", "NCIT:C98894", "NORD:1277", "OMIMPS:241550", "Orphanet:2248", "SCTID:62067003", "UMLS:C0152101", "icd11.foundation:1811800027" ], "synonyms": [ "HLHS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." }, "child_count": 8, "reference_id": "MONDO:0004933" }, { "id": 6933, "label": "familial cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 6735, 24272 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0002945", "GARD:0024166", "ICD9:425.4", "MEDGEN:538845", "SCTID:35728003", "UMLS:C0264789", "icd11.foundation:1018022925" ], "synonyms": [ "hereditary cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." }, "child_count": 18, "reference_id": "MONDO:0005217" }, { "id": 8134, "label": "atrial septal defect", "isLeaf": false, "isRoot": false, "parents": [ 4221, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1882", "EFO:1000825", "ICD10CM:Q21.1", "MEDGEN:6753", "MESH:D006344", "MedDRA:10003664", "MedDRA:10019308", "MedDRA:10068864", "NANDO:2100085", "NCIT:C84473", "NORD:820", "OMIMPS:108800", "Orphanet:1478", "SCTID:253366007", "UMLS:C0018817", "icd11.foundation:1285985084" ], "synonyms": [ "ASD", "Atrial Septal Defects", "atrial septal defect", "atrial septum defect", "auricular septal defect", "congenital atrial septal defect", "interatrial septal defect", "interauricular communication", "interatrial communication" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." }, "child_count": 30, "reference_id": "MONDO:0006664" }, { "id": 8600, "label": "familial bicuspid aortic valve", "isLeaf": false, "isRoot": false, "parents": [ 5678, 20383, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080332", "GARD:0017670", "MEDGEN:1670287", "OMIMPS:109730", "Orphanet:402075", "UMLS:C4749284" ], "synonyms": [ "familial BAV", "AOVD1", "aortic valve disease 1", "aortic valve disease type 1" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." }, "child_count": 9, "reference_id": "MONDO:0007194" }, { "id": 8716, "label": "Alagille syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6624, 7019, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9245", "GARD:0000804", "ICD9:759.89", "MEDGEN:39014", "MESH:D016738", "MedDRA:10053870", "NANDO:1200918", "NANDO:1200919", "NANDO:2200931", "NCIT:C35139", "NORD:748", "OMIMPS:118450", "Orphanet:52", "SCTID:31742004", "UMLS:C0085280", "icd11.foundation:1249656206" ], "synonyms": [ "Alagille syndrome", "Alagille-Watson syndrome", "Arteriohepatic dysplasia", "syndromic bile duct paucity", "Cardiovertebral syndrome", "Hepatofacioneurocardiovertebral syndrome", "Watson Alagille syndrome", "Watson-Miller syndrome", "hepatic ductular hypoplasia", "paucity of interlobular bile ducts" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." }, "child_count": 15, "reference_id": "MONDO:0007318" }, { "id": 9084, "label": "Holt-Oram syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 16946, 19479, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060468", "GARD:0006666", "ICD9:759.89", "MEDGEN:120524", "MESH:C535326", "MedDRA:10050469", "NCIT:C125592", "NORD:1248", "OMIM:142900", "Orphanet:392", "SCTID:19092004", "UMLS:C0265264", "icd11.foundation:1169240278" ], "synonyms": [ "atrio digital syndrome", "atrio-digital syndrome", "atriodigital dysplasia", "heart-hand syndrome", "HOLT-Oram syndrome", "HOS", "Holt Oram Syndrome", "Holt-Oram syndrome", "atriodigital dysplasia type 1", "heart-hand syndrome type 1", "Cardiac-limb syndrome", "HOS 1", "Hos1", "heart-hand syndrome, type 1", "ventriculo-radial syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." }, "child_count": 5, "reference_id": "MONDO:0007732" }, { "id": 9795, "label": "supravalvular aortic stenosis", "isLeaf": true, "isRoot": false, "parents": [ 23105, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1929", "GARD:0000743", "HP:0004381", "ICD10CM:Q25.3", "MEDGEN:2001", "MedDRA:10042598", "NANDO:2200285", "NCIT:C85176", "OMIM:185500", "Orphanet:3193", "SCTID:268185002", "UMLS:C0003499", "icd11.foundation:1066595728" ], "synonyms": [ "SVAS", "supravalvar aortic stenosis", "supravalvular aortic stenosis", "supravalvular aortic stenosis (disease)", "aortic supravalvular stenosis", "supravalvar aortic stenosis, Eisenberg type" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." }, "child_count": 0, "reference_id": "MONDO:0008504" }, { "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": 9851, "label": "DiGeorge syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3462, 18847, 20691, 24270, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11198", "GARD:0015118", "GTR:AN1145678", "ICD10CM:D82.1", "ICD9:279.11", "MEDGEN:4297", "MESH:D004062", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NCIT:C2989", "OMIM:188400", "SCTID:77128003", "UMLS:C0012236" ], "synonyms": [ "22q deletion syndrome(s)", "22q11.2 deletion syndrome", "DGS", "DGS1", "Di-George syndrome", "DiGeorge anomaly", "DiGeorge syndrome", "DiGeorge syndrome type 1", "DiGeorge's syndrome", "pharyngeal pouch syndrome", "Shprintzen syndrome", "Sphrintzen", "Catch22", "DiGeorge syndrome chromosome region", "Takao VCF syndrome", "VCF", "chromosome 22Q11.2 deletion syndrome", "hypoplasia of thymus and parathyroids", "third and fourth pharyngeal pouch syndrome", "velo-cardio-facial syndrome", "velocardiofacial syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." }, "child_count": 0, "reference_id": "MONDO:0008564" }, { "id": 9926, "label": "velocardiofacial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18847, 24270, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12583", "GARD:0015123", "ICD9:758.32", "MEDGEN:65085", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "OMIM:192430", "UMLS:C0220704" ], "synonyms": [ "22q11 deletion syndrome", "Shprintzen VCF syndrome", "VCF syndrome", "deletion 22q11.2 syndrome", "velocardiofacial syndrome", "Shprintzen syndrome", "chromosome 22Q11.2 deletion syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." }, "child_count": 0, "reference_id": "MONDO:0008644" }, { "id": 10171, "label": "MGAT2-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 7157, 16198, 17973, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070253", "GARD:0009828", "MEDGEN:443956", "MESH:C535752", "OMIM:212066", "Orphanet:79329", "SCTID:724142005", "UMLS:C2931008" ], "synonyms": [ "CDG syndrome type IIa", "CDG-IIa", "CDG2A", "MGAT2-CDG", "N-acetylglucosaminyltransferase 2 deficiency", "carbohydrate deficient glycoprotein syndrome type IIa", "congenital disorder of glycosylation type 2a", "congenital disorder of glycosylation type IIa", "Alkuraya syndrome", "CDG 2A", "CDG IIa", "CDGS2", "MGAT2-CDG (CDG-IIa)", "carbohydrate-deficient glycoprotein syndrome type 2", "carbohydrate-deficient glycoprotein syndrome, type II", "carbohydrate-deficient glycoprotein syndrome, type II, formerly", "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly", "congenital disorder of glycosylation, type IIa", "intellectual disability, Growth retardation, prominent columella, and open mouth", "mental retardation, Growth retardation, prominent columella, and open mouth" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." }, "child_count": 0, "reference_id": "MONDO:0008908" }, { "id": 10178, "label": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5121, 6875, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111584", "GARD:0003373", "MEDGEN:162901", "NCIT:C174217", "OMIM:212112", "Orphanet:2229", "SCTID:719451006", "UMLS:C0796031" ], "synonyms": [ "Malouf syndrome", "Najjar syndrome", "cardiogenital syndrome", "cardiomyopathy with primary testicular failure", "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "cardiomyopathy, dilated, with premature ovarian failure", "dilated cardiomyopathy with hypergonadotropic hypogonadism", "genital anomaly with cardiomyopathy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, "child_count": 0, "reference_id": "MONDO:0008915" }, { "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": 10185, "label": "Sengers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17234, 18270, 18302, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080132", "GARD:0001142", "MEDGEN:395228", "MESH:C538280", "OMIM:212350", "Orphanet:1369", "SCTID:717812000", "UMLS:C1859317", "icd11.foundation:22670425" ], "synonyms": [ "Sengers syndrome", "mitochondrial DNA depletion syndrome 10", "cardiomyopathic mitochondrial DNA depletion syndrome 10", "cardiomyopathy and cataract", "cataract and cardiomyopathy", "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome", "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." }, "child_count": 0, "reference_id": "MONDO:0008922" }, { "id": 10223, "label": "CHARGE syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 16526, 20691, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050834", "GARD:0000029", "ICD9:759.89", "MEDGEN:75567", "MESH:D058747", "MedDRA:10064063", "NANDO:1200464", "NANDO:2200972", "NCIT:C75100", "NORD:920", "Orphanet:138", "SCTID:47535005", "UMLS:C0265354", "icd11.foundation:52086532" ], "synonyms": [ "CHARGE association", "CHARGE syndrome", "Hall-Hittner syndrome", "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome", "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." }, "child_count": 5, "reference_id": "MONDO:0008965" }, { "id": 10403, "label": "Ehlers-Danlos syndrome, cardiac valvular type", "isLeaf": true, "isRoot": false, "parents": [ 24272, 24328 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080730", "GARD:0012613", "MEDGEN:929458", "MESH:C536200", "OMIM:225320", "Orphanet:230851", "SCTID:720858001", "UMLS:C4303789", "icd11.foundation:531375176" ], "synonyms": [ "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type", "EDS, cardiac valvular type", "EDSCV", "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form", "cardiac valvular form of Ehlers-Danlos syndrome", "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome", "cardiac-valvular EDS", "cardiac-valvular Ehlers-Danlos syndrome", "cvEDS", "Ehlers-Danlos syndrome, arthrochalasis type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." }, "child_count": 0, "reference_id": "MONDO:0009159" }, { "id": 10405, "label": "Ellis-van Creveld syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 18735, 19138, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12714", "GARD:0001301", "ICD10CM:Q77.6", "ICD9:756.55", "MEDGEN:8584", "MESH:D004613", "MedDRA:10008724", "NCIT:C84684", "NORD:1083", "OMIM:225500", "Orphanet:289", "SCTID:62501005", "UMLS:C0013903" ], "synonyms": [ "Chondroectodermal dysplasia", "EVC", "Ellis Van Creveld Syndrome", "Ellis Van Creveld syndrome", "Ellis-VAN Creveld syndrome", "Ellis-van Creveld syndrome", "Mesoectodermal dysplasia", "mesodermic dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." }, "child_count": 4, "reference_id": "MONDO:0009162" }, { "id": 10735, "label": "Larsen-like syndrome, B3GAT3 type", "isLeaf": true, "isRoot": false, "parents": [ 16168, 16198, 18360, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080575", "GARD:0017308", "MEDGEN:480034", "MESH:C537874", "OMIM:245600", "Orphanet:284139", "UMLS:C3278404" ], "synonyms": [ "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "JDSCD", "Larsen syndrome, autosomal recessive", "Larsen syndrome, autosomal recessive, formerly", "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects", "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects", "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." }, "child_count": 0, "reference_id": "MONDO:0009511" }, { "id": 10932, "label": "familial atrial myxoma", "isLeaf": true, "isRoot": false, "parents": [ 20427, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000139", "MEDGEN:419902", "MESH:C538262", "OMIM:255960", "Orphanet:615", "SCTID:233855002", "UMLS:C2931787", "icd11.foundation:1491085859" ], "synonyms": [ "MYXOMA, intracardiac", "atrial Myxoma, familial", "intracardiac myxoma" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009719" }, { "id": 11050, "label": "pericardial effusion, chronic", "isLeaf": true, "isRoot": false, "parents": [ 3592, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:342399", "MESH:C564895", "OMIM:260900", "UMLS:C1850039" ], "synonyms": [ "chronic pericardial effusion (disease)", "pericardial effusion (disease), chronic", "pericardial effusion, chronic", "cholesterol pericarditis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Chronic form of pericardial effusion (disease)." }, "child_count": 0, "reference_id": "MONDO:0009847" }, { "id": 11059, "label": "Peters plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16087, 16198, 17976, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070312", "DOID:0080201", "GARD:0008422", "ICD9:743.44", "MEDGEN:163204", "MESH:C537617", "NCIT:C123436", "OMIM:261540", "Orphanet:709", "SCTID:449817000", "UMLS:C0796012" ], "synonyms": [ "Krause-Kivlin syndrome", "Krause-van Schooneveld-Kivlin syndrome", "Peters anomaly with short limb dwarfism", "Peters-plus syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0009856" }, { "id": 11136, "label": "alveolar capillary dysplasia with misalignment of pulmonary veins", "isLeaf": true, "isRoot": false, "parents": [ 17417, 19778, 22225, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13042", "GARD:0008644", "ICD9:747.49", "ICD9:747.83", "MEDGEN:755478", "MESH:C536590", "MedDRA:10054726", "NCIT:C98809", "NORD:759", "OMIM:265380", "Orphanet:210122", "SCTID:447275002", "UMLS:C2960310" ], "synonyms": [ "ACDMPV", "alveolar capillary dysplasia", "alveolar capillary dysplasia with misalignment of pulmonary veins", "alveolar capillary dysplasia with misalignment of pulmonary vessels", "congenital alveolar capillary dysplasia", "foetal circulation", "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies", "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies", "alveolar capillary dysplasia with pulmonary venous misalignment", "familial persistent pulmonary hypertension of the newborn", "persistent fetal circulation", "persistent foetal circulation", "persistent foetal circulation syndrome", "persistent pulmonary hypertension of the newborn", "pulmonary hypertension, familial persistent of the newborn" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." }, "child_count": 0, "reference_id": "MONDO:0009934" }, { "id": 11399, "label": "CHIME syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 16607, 17977, 19138, 21415, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112152", "GARD:0000310", "MEDGEN:341214", "MESH:C536729", "OMIM:280000", "Orphanet:3474", "SCTID:720639008", "UMLS:C1848392" ], "synonyms": [ "CHIME syndrome", "PIGL-CDG", "Zunich-Kaye syndrome", "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "congenital disorder of glycosylation due to PIGL deficiency", "neuroectodermal dysplasia, CHIME type", "neuroectodermal syndrome, Zunich type", "CHIME", "Zunich neuroectodermal syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 5" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0010221" }, { "id": 11853, "label": "TARP syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111780", "GARD:0010089", "MEDGEN:333324", "MESH:C536942", "OMIM:311900", "Orphanet:2886", "SCTID:725911008", "UMLS:C1839463" ], "synonyms": [ "Pierre Robin sequence-congenital heart defect-talipes syndrome", "Pierre Robin syndrome-congenital heart defect-talipes syndrome", "TARP syndrome, X-linked recessive", "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome", "tarp syndrome", "Pierre Robin sequence - congenital heart defect - talipes", "Pierre Robin syndrome - congenital heart defect - talipes", "Pierre Robin syndrome with congenital heart malformation and clubfoot", "TARPS", "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava", "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." }, "child_count": 0, "reference_id": "MONDO:0010711" }, { "id": 11893, "label": "cardiac valvular dysplasia, X-linked", "isLeaf": true, "isRoot": false, "parents": [ 19774, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111765", "GARD:0001096", "MEDGEN:78083", "MESH:C535576", "OMIM:314400", "Orphanet:1864", "Orphanet:555877", "SCTID:718128009", "UMLS:C0262436" ], "synonyms": [ "CVD1", "XMVD", "cardiac valvular dysplasia, X-linked", "congenital valvular dysplasia", "myxomatous valvular dystrophy, X-linked", "valvular heart disease, congenital" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010753" }, { "id": 12264, "label": "Ehlers-Danlos syndrome, musculocontractural type", "isLeaf": false, "isRoot": false, "parents": [ 16168, 16198, 19660, 19720, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008486", "MEDGEN:356497", "MESH:C000600608", "NANDO:1200652", "NANDO:2201262", "Orphanet:2953", "SCTID:720860004", "UMLS:C1866294" ], "synonyms": [ "ATCS", "CHST14-related EDS", "CHST14-related Ehlers-Danlos syndrome", "D4ST1-deficient EDS", "D4ST1-deficient Ehlers-Danlos syndrome", "EDS, Kosho type", "EDS, arthrogryposic type", "EDS, musculocontractural type", "Ehlers-Danlos syndrome, Kosho type", "Ehlers-Danlos syndrome, arthrogryposic type", "MCEDS", "adducted thumb-clubfoot syndrome", "adducted thumbs-arthrogryposis syndrome, Dundar type", "musculocontractural Ehlers-Danlos syndrome", "Dundar syndrome", "EDS6B, formerly", "EDSMC", "EDSMC1", "EDSmc", "Ehlers-Danlos syndrome, musculocontractural type 1", "Ehlers-Danlos syndrome, musculocontractural type, 1", "Ehlers-Danlos syndrome, type VIB, formerly", "Ehlers-Danlos syndrome, type Vib", "Ehlers-Danlos syndrome, type Vib, formerly", "adducted thumb clubfoot syndrome", "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome", "adducted thumb-club foot syndrome", "adducted thumbs Dundar type", "arthrogryposis, distal, with peculiar facies and hydronephrosis", "autosomal recessive adducted thumb-club foot syndrome", "musculocontractural EDS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." }, "child_count": 10, "reference_id": "MONDO:0011142" }, { "id": 12558, "label": "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16946, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017148", "MEDGEN:346902", "MESH:C565782", "OMIM:604381", "Orphanet:228190", "UMLS:C1858420" ], "synonyms": [ "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome", "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0011454" }, { "id": 12581, "label": "postural orthostatic tachycardia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3258, 20466, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111154", "EFO:1000645", "GARD:0013591", "MEDGEN:226970", "MESH:D054972", "NCIT:C85020", "OMIM:604715", "Orphanet:443236", "SCTID:371073003", "UMLS:C1299624", "icd11.foundation:1533647472" ], "synonyms": [ "POTS", "familial orthostatic tachycardia due to norepinephrine transporter deficiency", "irritable heart", "orthostatic intolerance due to NET deficiency", "soldiers heart", "Soldiers heart", "neurocirculatory asthenia", "orthostatic intolerance" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." }, "child_count": 0, "reference_id": "MONDO:0011479" }, { "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": 13082, "label": "coronary artery disease, autosomal dominant, 1", "isLeaf": true, "isRoot": false, "parents": [ 6748, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:330802", "MESH:C564258", "OMIM:608320", "UMLS:C1842247" ], "synonyms": [ "MEF2A coronary artery disease", "coronary artery disease caused by mutation in MEF2A", "coronary artery disease, autosomal dominant, 1", "coronary artery disease, autosomal dominant, type 1", "ADCAD1", "coronary artery disease with myocardial infarction" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, "child_count": 0, "reference_id": "MONDO:0012011" }, { "id": 13633, "label": "coronary artery disease, autosomal dominant 2", "isLeaf": true, "isRoot": false, "parents": [ 6748, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:370259", "MESH:C567045", "OMIM:610947", "UMLS:C1970440" ], "synonyms": [ "LRP6 coronary artery disease", "coronary artery disease caused by mutation in LRP6", "coronary artery disease, autosomal dominant 2", "coronary artery disease, autosomal dominant type 2", "coronary artery disease, autosomal dominant, 2", "ADCAD2" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, "child_count": 0, "reference_id": "MONDO:0012586" }, { "id": 13681, "label": "COG1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7157, 16198, 17979, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070259", "GARD:0010226", "MEDGEN:443957", "MESH:C535756", "OMIM:611209", "Orphanet:263508", "SCTID:718750004", "UMLS:C2931011" ], "synonyms": [ "CDG syndrome type IIg", "CDG-IIg", "CDG2G", "COG1-CDG", "COG1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIg", "congenital disorder of glycosylation type 2g", "congenital disorder of glycosylation type IIg", "CDG 2G", "CDG IIg", "COG1-CDG (CDG-IIg)", "Cdgii/Cog1 Cerebrocostomandibular-like syndrome", "congenital disorder of glycosylation, type IIg" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0012637" }, { "id": 14665, "label": "familial retinal arterial macroaneurysm", "isLeaf": true, "isRoot": false, "parents": [ 4419, 24270, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012779", "MEDGEN:481835", "OMIM:614224", "Orphanet:284247", "SCTID:764452004", "UMLS:C3280205", "icd11.foundation:800928909" ], "synonyms": [ "FRAM", "Fram", "retinal arterial macroaneurysm and supravalvular pulmonic stenosis", "RAMSVPS", "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0013640" }, { "id": 14970, "label": "sinoatrial node dysfunction and deafness", "isLeaf": true, "isRoot": false, "parents": [ 8666, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017484", "MEDGEN:766932", "OMIM:614896", "Orphanet:324321", "UMLS:C3554018" ], "synonyms": [ "sinoatrial node dysfunction and deafness", "SANDD" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." }, "child_count": 0, "reference_id": "MONDO:0013960" }, { "id": 14998, "label": "congenital heart defects, multiple types, 3", "isLeaf": true, "isRoot": false, "parents": [ 2732, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:767108", "OMIM:614954", "UMLS:C3554194" ], "synonyms": [ "CHTD3", "congenital heart defects, multiple types, 3", "congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013988" }, { "id": 15010, "label": "congenital heart defects, multiple types, 2", "isLeaf": true, "isRoot": false, "parents": [ 2732, 19327, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024964", "MEDGEN:767193", "OMIM:614980", "UMLS:C3554279" ], "synonyms": [ "TAB2 congenital heart malformation", "TAB2-related syndromic congenital heart disease", "congenital heart defects, multiple types, 2", "congenital heart malformation caused by mutation in TAB2", "CHTD2" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital heart disease characterized by variable features including polyvalvular heart disease, growth failure, joint hypermobility, hypotonia, and hearing loss due to a variation in the TAB2 gene." }, "child_count": 0, "reference_id": "MONDO:0014000" }, { "id": 15268, "label": "8q24.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17326, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012814", "MEDGEN:816353", "OMIM:615583", "Orphanet:508488", "UMLS:C3810023" ], "synonyms": [ "Verheij syndrome", "VRJS", "chromosome 8Q24.3 deletion syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014263" }, { "id": 15556, "label": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070062", "GARD:0017797", "MEDGEN:903767", "NORD:1954", "OMIM:616268", "Orphanet:457193", "UMLS:C4225396" ], "synonyms": [ "Arboleda-Tham syndrome", "KAT6A Syndrome", "MRD32", "autosomal dominant intellectual disability 32", "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "intellectual disability, autosomal dominant type 32", "mental retardation, autosomal dominant type 32", "autosomal dominant non-syndromic intellectual disability 32", "intellectual disability, autosomal dominant 32", "mental retardation, autosomal dominant 32" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." }, "child_count": 0, "reference_id": "MONDO:0014558" }, { "id": 15762, "label": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017588", "HGNC:22962", "MEDGEN:1675852", "OMIM:616789", "Orphanet:369891", "UMLS:C5192431" ], "synonyms": [ "ASRAS", "Asadollahi-Rauch syndrome", "MED13L haploinsufficiency syndrome", "MED13L syndrome", "MED13L-related intellectual disability", "MRFACD", "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "developmental delay-facial dysmorphism syndrome due to MED13L deficiency", "impaired intellectual development and distinctive facial features with or without cardiac defects", "intellectual disability and distinctive facial features with or without cardiac defects", "mental retardation and distinctive Facial features with or without Cardiac defects", "MED13L-related syndrome", "MRFACD syndrome", "mental retardation and distinctive FACIAL features with or without CARDIAC defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features, such as cardiac defects." }, "child_count": 0, "reference_id": "MONDO:0014773" }, { "id": 15772, "label": "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19669, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017840", "MEDGEN:902080", "OMIM:616816", "Orphanet:467176", "UMLS:C4225196" ], "synonyms": [ "IHPMR", "hypotonia, infantile, with psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size." }, "child_count": 0, "reference_id": "MONDO:0014784" }, { "id": 15862, "label": "transketolase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 19095, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017894", "MEDGEN:1814561", "OMIM:617044", "Orphanet:488618", "UMLS:C5700245" ], "synonyms": [ "TKT deficiency", "short stature-developmental delay-congenital heart defect syndrome", "SDDHD", "short stature, developmental delay, and congenital heart defects" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014881" }, { "id": 15954, "label": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3109, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111488", "GARD:0017865", "MEDGEN:934628", "OMIM:617228", "Orphanet:478049", "UMLS:C4310661" ], "synonyms": [ "COXPD31", "MIPEP combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency 31", "combined oxidative phosphorylation deficiency caused by mutation in MIPEP", "combined oxidative phosphorylation deficiency type 31" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." }, "child_count": 0, "reference_id": "MONDO:0014976" }, { "id": 16439, "label": "dextrocardia", "isLeaf": true, "isRoot": false, "parents": [ 18668, 24272, 24336 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9565", "GARD:0001827", "HP:0001651", "ICD10CM:Q24.0", "ICD9:746.87", "MEDGEN:4255", "MESH:D003914", "MedDRA:10012592", "NCIT:C84669", "Orphanet:1666", "SCTID:27637000", "UMLS:C0011813", "icd11.foundation:1472687600" ], "synonyms": [ "dextrocardia", "dextrocardia (disease)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." }, "child_count": 0, "reference_id": "MONDO:0015661" }, { "id": 18336, "label": "LMNA-related cardiocutaneous progeria syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19146, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021555", "MEDGEN:1667690", "Orphanet:363618", "UMLS:C4750858" ], "synonyms": [ "LCPS" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." }, "child_count": 0, "reference_id": "MONDO:0018203" }, { "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": 19775, "label": "familial atrioventricular septal defect", "isLeaf": false, "isRoot": false, "parents": [ 4221, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050651", "GARD:0000802", "ICD10CM:Q21.2", "ICD9:745.6", "ICD9:745.60", "ICD9:745.69", "NCIT:C101029", "NORD:821", "OMIMPS:606215", "Orphanet:98722", "SCTID:15459006" ], "synonyms": [ "Atrioventricular Septal Defect", "AV septal defect", "AVCD", "AVSD", "ECD", "atrioventricular canal defect", "atrioventricular septal defect", "common AV canal", "common atrioventricular canal", "endocardial cushion defect" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." }, "child_count": 12, "reference_id": "MONDO:0020290" }, { "id": 20148, "label": "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 8666, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1781114", "OMIM:115000", "UMLS:C5542154" ], "synonyms": [ "VACRDS", "autosomal dominant cardiac arrhythmia (Kuhn)", "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "cardiac arrhythmia", "extrasystoles" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0020745" }, { "id": 20218, "label": "congenital vertebral-cardiac-renal anomalies syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017961", "MEDGEN:1814457", "OMIMPS:617660", "Orphanet:521438", "UMLS:C5680183" ], "synonyms": [ "VCRL", "vertebral, cardiac, renal, and limb defects syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0020831" }, { "id": 23092, "label": "inherited mitral valve disease", "isLeaf": false, "isRoot": false, "parents": [ 5647, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:539532", "SCTID:75372006", "UMLS:C0265845" ], "synonyms": [ "congenital anomaly of mitral valve", "hereditary mitral valve disease", "congenital malformation of mitral valve", "congenital mitral valve abnormality" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." }, "child_count": 4, "reference_id": "MONDO:0042966" }, { "id": 23122, "label": "Hordnes Engebretsen Knudtson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 8367, 16310, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002736", "MEDGEN:419333", "MESH:C536067", "UMLS:C2931100" ], "synonyms": [ "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability", "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0043099" }, { "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": 23722, "label": "congenital heart defects, multiple types, 5", "isLeaf": true, "isRoot": false, "parents": [ 2732, 24266, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1636547", "OMIM:617912", "UMLS:C4693563" ], "synonyms": [ "CHTD5", "CONGENITAL heart defects, multiple types, 5" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060663" }, { "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": 23841, "label": "congenital alveolar dysplasia due to FGF10", "isLeaf": true, "isRoot": false, "parents": [ 23829, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026041" ], "synonyms": [ "CAD due to FGF10" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." }, "child_count": 0, "reference_id": "MONDO:0100090" }, { "id": 23848, "label": "congenital alveolar dysplasia due to TBX4", "isLeaf": true, "isRoot": false, "parents": [ 23829, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026045" ], "synonyms": [ "CAD due to TBX4" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." }, "child_count": 0, "reference_id": "MONDO:0100097" }, { "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": 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": 24723, "label": "ACTN2-related cardiac and skeletal myopathy", "isLeaf": false, "isRoot": false, "parents": [ 24272, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028023" ], "synonyms": [ "ACTN2 familial isolated dilated cardiomyopathy", "CMD1AA", "cardiomyopathy, dilated, 1AA, with or without LVNC", "cardiomyopathy, hypertrophic, 23, with or without LVNC", "dilated cardiomyopathy 1AA with or without left ventricular noncompaction", "dilated cardiomyopathy type 1AA", "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase." }, "child_count": 6, "reference_id": "MONDO:0700349" }, { "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": 25030, "label": "MYH-6 related congenital heart defects", "isLeaf": true, "isRoot": false, "parents": [ 2732, 24272 ], "type_id": 0, "properties": { "synonyms": [ "MYH6 related congenital heart defects" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome." }, "child_count": 0, "reference_id": "MONDO:0800442" }, { "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": 25356, "label": "congenital heart defects, multiple types, 8, with or without heterotaxy", "isLeaf": true, "isRoot": false, "parents": [ 2732, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794252", "OMIM:619657", "UMLS:C5562042" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859213" }, { "id": 25532, "label": "congenital heart defects, multiple types, 9", "isLeaf": true, "isRoot": false, "parents": [ 2732, 24272 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1841003", "OMIM:620294", "UMLS:C5830367" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859532" }, { "id": 26353, "label": "cardiac conduction disease with or without cardiomyoopathy", "isLeaf": false, "isRoot": false, "parents": [ 8666, 24272 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:616117", "Orphanet:436242" ], "synonyms": [ "hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood." }, "child_count": 4, "reference_id": "MONDO:0980715" }, { "id": 26412, "label": "fibromuscular dysplasia of the coronary arteries", "isLeaf": true, "isRoot": false, "parents": [ 6748, 8215, 24272 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:698059" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980999" }, { "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" }, { "id": 26601, "label": "cardiogenetic rhythm disorder", "isLeaf": false, "isRoot": false, "parents": [ 8666, 24272 ], "type_id": 0, "properties": { "synonyms": [ "cardiogenetic rhythm disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation." }, "child_count": 18, "reference_id": "MONDO:1010180" }, { "id": 26612, "label": "TNNT2-related cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 24272 ], "type_id": 0, "properties": { "synonyms": [ "TNNT2-related cardiomyopathy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A genetically heterogeneous cardiac disorder caused by pathogenic variants in the TNNT2 gene and inherited in an autosomal dominant manner. Affected individuals present with a spectrum of cardiomyopathy phenotypes, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). Clinical features may include heart failure, ventricular arrhythmias, and sudden cardiac death. Overlapping or mixed cardiomyopathy phenotypes, as well as variable expressivity within families, have also been reported." }, "child_count": 3, "reference_id": "MONDO:1010193" }, { "id": 29323, "label": "NOTCH1-related AOS spectrum disorder", "isLeaf": false, "isRoot": false, "parents": [ 2903, 24272, 24336 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects)." }, "child_count": 6, "reference_id": "MONDO:1060150" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 6967, "label": "heart disorder" } ] }