All terms in MONDO_RARE

Label Id Description
fused mandibular incisors MONDO_0007820 [Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.]
hereditary disease MONDO_0003847 [A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.]
KRT5 6442
KRT6A 6443
accessory tricuspid valve tissue MONDO_0019815 [Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.]
congenital tricuspid malformation MONDO_0020289
basal cell carcinoma MONDO_0020804 [A carcinoma involving the basal cells.]
basal cell neoplasm MONDO_0020799 [A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.]
carcinoma MONDO_0004993 [A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.]
cleft mitral valve MONDO_0019818
congenital mitral malformation MONDO_0016582
congenital mitral valve insufficiency and/or stenosis MONDO_0019817
tricuspid valve agenesis MONDO_0019811
demyelinating disease of central nervous system MONDO_0020800 [Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.]
demyelinating disease MONDO_0002562 [A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.]
straddling or overriding tricuspid valve MONDO_0019814 [Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.]
congenital tricuspid stenosis MONDO_0019813
toxic epidermal necrolysis MONDO_0019810 [Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.]
toxic dermatosis MONDO_0017396
benign sertoli cell tumor MONDO_0020809 [A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.]