CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
|---|---|---|---|---|---|---|
C0000768 | has_associated_morphology | C0265767 | Congenital Abnormality | Congenital stenosis of trachea | Malformations of organs or body parts during development in utero. | A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty. |
C0000768 | has_associated_morphology | C0265768 | Congenital Abnormality | Congenital dilatation of trachea | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265769 | Congenital Abnormality | Congenital diverticulum of trachea | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265770 | Congenital Abnormality | Rudimentary tracheal bronchus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265772 | Congenital Abnormality | Accessory trachea | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265773 | Congenital Abnormality | Congenital anomaly of tracheal cartilage | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265774 | Congenital Abnormality | Congenital anomaly of bronchus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265776 | Congenital Abnormality | Congenital atresia of bronchus | Malformations of organs or body parts during development in utero. | A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. [https://orcid.org/0000-0002-0003-6754] |
C0000768 | has_associated_morphology | C0265777 | Congenital Abnormality | Congenital diverticulum of bronchus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265778 | Congenital Abnormality | Accessory bronchus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265797 | Congenital Abnormality | Congenital emphysema | Malformations of organs or body parts during development in utero. | A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. |
C0000768 | has_associated_morphology | C0265798 | Congenital Abnormality | Bronchial atresia with segmental pulmonary emphysema | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265801 | Congenital Abnormality | Congenital anomaly of pleural folds | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265802 | Congenital Abnormality | Congenital cyst of mediastinum | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265807 | Congenital Abnormality | Acyanotic congenital heart disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265808 | Congenital Abnormality | Cyanotic congenital heart disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265809 | Congenital Abnormality | Double outlet left ventricle | Malformations of organs or body parts during development in utero. | Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle. |
C0000768 | has_associated_morphology | C0265812 | Congenital Abnormality | Left ventricular-right atrial communication | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265815 | Congenital Abnormality | Premature closure of foramen ovale | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265817 | Congenital Abnormality | Common arterial trunk and separate origin of pulmonary arteries | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265819 | Congenital Abnormality | Truncus arteriosus, Edwards' type IV | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265820 | Congenital Abnormality | Congenital anomaly of heart valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265825 | Congenital Abnormality | Monocuspid cardiac valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265827 | Congenital Abnormality | Quadricuspid cardiac valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265828 | Congenital Abnormality | Myxomatosis of cardiac valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265829 | Congenital Abnormality | Congenital valvular insufficiency | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265830 | Congenital Abnormality | Congenital pulmonary valve abnormality | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265832 | Congenital Abnormality | Congenital supravalvular pulmonary stenosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265833 | Congenital Abnormality | Congenital insufficiency of pulmonary valve | Malformations of organs or body parts during development in utero. | Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth. |
C0000768 | has_associated_morphology | C0265836 | Congenital Abnormality | Congenital stenosis of tricuspid valve | Malformations of organs or body parts during development in utero. | Tricuspid valve stenosis that is present at birth. |
C0000768 | has_associated_morphology | C0265837 | Congenital Abnormality | Congenital hypoplasia of tricuspid valve | Malformations of organs or body parts during development in utero. | Congenital defect characterized by underdevelopment of the tricuspid valve. [HPO_CONTRIBUTOR:DDD_dbrown] |
C0000768 | has_associated_morphology | C0265839 | Congenital Abnormality | Ebstein's anomaly with atrial septal defect | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265840 | Congenital Abnormality | Congenital insufficiency of tricuspid valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265841 | Congenital Abnormality | Congenital anomaly of aortic valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265843 | Congenital Abnormality | Congenital atresia of aortic valve | Malformations of organs or body parts during development in utero. | A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0265844 | Congenital Abnormality | Double aortic valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265845 | Congenital Abnormality | Congenital anomaly of mitral valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265848 | Congenital Abnormality | Supernumerary cusps of the mitral valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265849 | Congenital Abnormality | Double mitral valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265850 | Congenital Abnormality | Fused commissures of mitral valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265851 | Congenital Abnormality | Congenital supravalvular mitral stenosis | Malformations of organs or body parts during development in utero. | Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension,... |
C0000768 | has_associated_morphology | C0265856 | Congenital Abnormality | Hypoplasia of right heart | Malformations of organs or body parts during development in utero. | Underdevelopment of the right-sided structures of the heart. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0265857 | Congenital Abnormality | Uhl anomaly | Malformations of organs or body parts during development in utero. | Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly s... |
C0000768 | has_associated_morphology | C0265866 | Congenital Abnormality | Congenital atresia of cardiac vein | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265867 | Congenital Abnormality | Hypoplasia of cardiac vein | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265868 | Congenital Abnormality | Chiari network | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265870 | Congenital Abnormality | Congenital absence of coronary sinus | Malformations of organs or body parts during development in utero. | A developmental defect in which the coronary sinus fails to form. [https://orcid.org/0000-0001-5208-3432, PMID:24551710] |
C0000768 | has_associated_morphology | C0265871 | Congenital Abnormality | Anomalous muscle bands of right ventricle | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265872 | Congenital Abnormality | Anomalous muscle bands of left ventricle | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265873 | Congenital Abnormality | Congenital cardiomegaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265875 | Congenital Abnormality | Congenital rhabdomyoma of heart | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265876 | Congenital Abnormality | Primary endocardial fibroelastosis | Malformations of organs or body parts during development in utero. | Endocardial fibroelastosis unassociated with other cardiac abnormalities. |
C0000768 | has_associated_morphology | C0265878 | Congenital Abnormality | Preductal coarctation of aorta | Malformations of organs or body parts during development in utero. | Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. [HPO_CONTRIBUTOR:DDD_dbrown] |
C0000768 | has_associated_morphology | C0265879 | Congenital Abnormality | Postductal coarctation of aorta | Malformations of organs or body parts during development in utero. | Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. [HPO_CONTRIBUTOR:DDD_dbrown] |
C0000768 | has_associated_morphology | C0265881 | Congenital Abnormality | Congenital hypoplasia of aortic arch | Malformations of organs or body parts during development in utero. | An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome. |
C0000768 | has_associated_morphology | C0265882 | Congenital Abnormality | Congenital hypoplasia of ascending aorta | Malformations of organs or body parts during development in utero. | Significant luminal narrowing of a long segment of or the entire ascending aorta. [PMID:13938144] |
C0000768 | has_associated_morphology | C0265883 | Congenital Abnormality | Double Aortic Arch | Malformations of organs or body parts during development in utero. | A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor... |
C0000768 | has_associated_morphology | C0265885 | Congenital Abnormality | Kommerell's diverticulum | Malformations of organs or body parts during development in utero. | Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma... |
C0000768 | has_associated_morphology | C0265886 | Congenital Abnormality | Overriding aorta | Malformations of organs or body parts during development in utero. | A congenital anatomic anomaly in which the aorta is positioned directly above a ventricular septal defect, thus receiving blood from both the right and left ventricles, resulting in an overall decrease In oxygenated haemoglobin and tissue cyanosis. |
C0000768 | has_associated_morphology | C0265887 | Congenital Abnormality | Persistent aortic arch convolutions | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265889 | Congenital Abnormality | Congenital atresia of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265890 | Congenital Abnormality | Congenital stenosis of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265891 | Congenital Abnormality | Aplasia of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265892 | Congenital Abnormality | Hypoplasia of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265894 | Congenital Abnormality | Congenital aneurysm of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265895 | Congenital Abnormality | Congenital dilatation of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265897 | Congenital Abnormality | Anomalous communication of coronary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265898 | Congenital Abnormality | Coronary artery fistula | Malformations of organs or body parts during development in utero. | Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. |
C0000768 | has_associated_morphology | C0265899 | Congenital Abnormality | Congenital absence of coronary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265900 | Congenital Abnormality | Anomalous origin of left circumflex artery from right coronary artery | Malformations of organs or body parts during development in utero. | An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). [PMID:27358682] |
C0000768 | has_associated_morphology | C0265901 | Congenital Abnormality | Coronary artery arising from aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265902 | Congenital Abnormality | Anomalous origin of coronary artery from pulmonary arterial tree | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265903 | Congenital Abnormality | Single coronary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265905 | Congenital Abnormality | Agenesis of pulmonary artery | Malformations of organs or body parts during development in utero. | A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, whi... |
C0000768 | has_associated_morphology | C0265906 | Congenital Abnormality | Congenital absence of right pulmonary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265907 | Congenital Abnormality | Congenital absence of left pulmonary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265908 | Congenital Abnormality | Congenital atresia of pulmonary artery | Malformations of organs or body parts during development in utero. | A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0265909 | Congenital Abnormality | Coarctation of pulmonary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265910 | Congenital Abnormality | Congenital hypoplasia of pulmonary artery | Malformations of organs or body parts during development in utero. | A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as t... |
C0000768 | has_associated_morphology | C0265912 | Congenital Abnormality | Anomalous origin of pulmonary artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265913 | Congenital Abnormality | Pulmonary arteriovenous aneurysm | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265914 | Congenital Abnormality | Anomalous pulmonary vein | Malformations of organs or body parts during development in utero. | An abnormality of the pulmonary veins. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0265915 | Congenital Abnormality | Congenital stenosis of pulmonary veins | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265916 | Congenital Abnormality | Anomalous pulmonary venous drainage | Malformations of organs or body parts during development in utero. | A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and ... |
C0000768 | has_associated_morphology | C0265917 | Congenital Abnormality | Supradiaphragmatic total anomalous pulmonary venous return | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265918 | Congenital Abnormality | Anomalous pulmonary venous drainage to right atrium | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265919 | Congenital Abnormality | Anomalous pulmonary venous drainage to coronary sinus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265920 | Congenital Abnormality | Anomalous pulmonary venous drainage to superior vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265921 | Congenital Abnormality | Subdiaphragmatic total anomalous pulmonary venous return | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265922 | Congenital Abnormality | Anomalous pulmonary venous drainage to hepatic veins | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265923 | Congenital Abnormality | Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265924 | Congenital Abnormality | Transposition of pulmonary veins | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265925 | Congenital Abnormality | Congenital anomaly of vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265926 | Congenital Abnormality | Congenital absence of vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265927 | Congenital Abnormality | Congenital stenosis of vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265928 | Congenital Abnormality | Congenital anomaly of superior vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265929 | Congenital Abnormality | Absence of superior vena cava | Malformations of organs or body parts during development in utero. | A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequen... |
C0000768 | has_associated_morphology | C0265930 | Congenital Abnormality | Congenital stenosis of superior vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265931 | Congenital Abnormality | Persistent Left Superior Vena Cava | Malformations of organs or body parts during development in utero. | Finding of the SUPERIOR VENA CAVA on the left instead of the usual right side of the ASCENDING AORTA. In bilateral superior vena cava it is found on both sides. |
C0000768 | has_associated_morphology | C0265932 | Congenital Abnormality | Congenital anomaly of inferior vena cava | Malformations of organs or body parts during development in utero. | null |
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