Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Bordetella holmesii	NCBITaxon_35814
obsolete_chylomicron retention disease	Orphanet_71
obsolete_Angelman syndrome	Orphanet_72	[Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.]
benign neoplasm of stomach	MONDO_0021449	[A benign neoplasm that involves the stomach.]
obsolete_Gorham-Stout disease	Orphanet_73	[Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.]
obsolete_aniridia	Orphanet_77
Gastric Mantle Cell Lymphoma	EFO_1000272	[A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.]
gastric non-hodgkin lymphoma	MONDO_0042493	[An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.]
thoracic benign neoplasm	MONDO_0000634	[A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.]
Heart neoplasm	EFO_1001339	[A neoplasm (disease) that involves the heart.]
Gastric Metaplasia	EFO_1000273	[Intestinal metaplasia of the gastric mucosa is an intermediate precancerous gastric lesion in the gastric cancer cascade from chronic gastritis and atrophy to dysplasia and adenocarcinoma. Although the risk of gastric cancer is increased in patients with intestinal metaplasia, the absolute risk is low. Subsets of patients with intestinal metaplasia may be at higher risk for progression. However, novel biomarkers are needed to better identify high-risk subgroups, and definitive studies are essential to determine the optimal interval for cancer surveillance in patients at increased risk for gastric cancer. (http://www.uptodate.com/contents/gastric-intestinal-metaplasia)]
Gastric Diffuse Large B-Cell Lymphoma	EFO_1000270	[An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.]
benign neoplasm of cornea	MONDO_0021452	[A benign neoplasm that involves the cornea.]
cornea neoplasm	MONDO_0021238	[A neoplasm (disease) that involves the cornea.]
response to temozolomide	GO_1990054	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma.]
Gastric Squamous Cell Carcinoma	EFO_1000278	[A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.]
obsolete_gastric tubular adenocarcinoma	EFO_1000279
short stature-wormian bones-dextrocardia syndrome	MONDO_0008499	[Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.]
Gastric Papillary Adenocarcinoma	EFO_1000276	[A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.]
papillary adenocarcinoma	MONDO_0002512	[A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.]