All terms in MONDO_RARE

Label Id Description
aortic valve insufficiency MONDO_0005648 [Dysfunction of the aortic valve characterized by incomplete valve closure.]
disorder of development or morphogenesis MONDO_0021147 [Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.]
aortic valve atresia MONDO_0019808 [A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.]
congenital aortic valve stenosis MONDO_0017735
congenital heart disease MONDO_0005453 [A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.]
congenital anomaly of superior vena cava MONDO_0019829
vascular disorder MONDO_0005385 [A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.]
pituitary stalk interruption syndrome MONDO_0019828 [Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.]
non-acquired pituitary hormone deficiency MONDO_0019824
premature closure of the arterial duct MONDO_0019823 [Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.]
congenital anomaly of the great arteries MONDO_0020292
congenital coronary artery aneurysm MONDO_0019825 [Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.]
coronary artery congenital malformation MONDO_0015203
pituitary deficiency MONDO_0015127
hereditary endocrine growth disease MONDO_0015514
aneurysm or dilatation of ascending aorta MONDO_0019821
univentricular cardiopathy MONDO_0019820
papillary carcinoma MONDO_0006509 [A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.]
papillary epithelial neoplasm MONDO_0021096
sporadic Creutzfeld Jacob disease MONDO_0006518 [Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.]