Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glandular papilloma	MONDO_0021078
respiratory system benign neoplasm	MONDO_0000382	[A benign neoplasm that involves the respiratory system.]
Parachordoma	EFO_1000452	[A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.]
myoepithelial tumor	MONDO_0002380	[A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.]
Abnormal urinary color	HP_0012086	[An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.]
inherited neuroendocrine tumor	MONDO_0025511	[An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.]
autonomic nervous system neoplasm	MONDO_0002366	[Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.]
acrofacial dysostosis, Weyers type	MONDO_0008673	[Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.]
Papillary Transitional Cell Carcinoma	EFO_1000450	[A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.]
Watson syndrome	MONDO_0008672	[Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.]
neurofibromatosis-Noonan syndrome	MONDO_0011035	[Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).]
Papillary Tumor of the Pineal Region	EFO_1000451	[A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable.]
WAGR syndrome	MONDO_0008681	[WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.]
partial deletion of the short arm of chromosome 11	MONDO_0016893
mosaic genome-wide paternal uniparental disomy	MONDO_0018007
uniparental disomy	MONDO_0700086	[A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.]
mosaic	MONDO_0700062	[A disease characteristic in which the cause of the disease is present in some of the cells of the organism.]
Parotid Gland Acinic Cell Carcinoma	EFO_1000458	[An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.]
Parotid Gland Carcinoma	EFO_1000460	[A carcinoma that involves the parotid gland., A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma.]
Parotid Gland Adenoid Cystic Carcinoma	EFO_1000459	[An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.]