Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
primary brain neoplasm	MONDO_0021632
Wilms tumor 1	MONDO_0008679
cerebral astrocytoma	MONDO_0021633	[An astrocytoma that arises from the cerebral hemispheres.]
neoplasm of cerebral hemisphere	MONDO_0021374	[A neoplasm involving a cerebral hemisphere.]
Parathyroid Gland Carcinoma	EFO_1000456	[A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors., Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.]
malignant tumor of parathyroid gland	MONDO_0021311	[A cancer that involves the parathyroid gland.]
Williams syndrome	MONDO_0008678	[Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)]
genetic hypertension	MONDO_0015512	[An instance of hypertension that is caused by a modification of the individual's genome.]
motor stereotypies	MONDO_0017656
syndromic epicanthus	MONDO_0020165
partial deletion of the long arm of chromosome 7	MONDO_0016906	[Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
supravalvular aortic stenosis	MONDO_0008504	[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.]
Parathyroid Hyperplasia	EFO_1000457	[Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm), A hyperplasia that involves the parathyroid gland.]
paranasal sinus carcinoma	MONDO_0000380	[A malignant epithelial neoplasm arising in the paranasal sinus.]
white sponge nevus 1	MONDO_0008676	[Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.]
hereditary mucosal leukokeratosis	MONDO_0015748	[White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.]
Paranasal Sinus Schneiderian Papilloma	EFO_1000455	[A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.]
sensory organ benign neoplasm	MONDO_0000633	[A benign neoplasm that involves the sense organ.]
bone benign neoplasm	MONDO_0000631	[A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.]
paranasal sinus neoplasm	EFO_0003866	[A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.]