Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal dominant distal myopathy	MONDO_0016108	[Autosomal dominant form of distal myopathy.]
Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma	EFO_1000591	[An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.]
MALT lymphoma	EFO_0000191	[An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)]
Pierre Robin syndrome associated with branchial archs anomalies	Orphanet_138050
Thyroid Gland Oncocytic Follicular Carcinoma	EFO_1000592	[A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.]
sensory perception of smell	GO_0007608	[A neurological process comprising the series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors.]
nebulin-related early-onset distal myopathy	MONDO_0018371
autosomal recessive distal myopathy	MONDO_0016109	[Autosomal recessive form of distal myopathy.]
Thyroid Gland Mucoepidermoid Carcinoma	EFO_1000590	[A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.]
mucoepidermoid carcinoma	MONDO_0003036	[A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.]
thyroid gland adenocarcinoma	MONDO_0024622	[An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).]
tracheal cancer	MONDO_0001407	[A malignant neoplasm involving the trachea]
Tonsillar Squamous Cell Carcinoma	EFO_1000597	[A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.]
tonsil squamous cell carcinoma	MONDO_0000535	[A squamous cell carcinoma that involves the tonsil.]
Tracheal Adenoid Cystic Carcinoma	EFO_1000598	[An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.]
Thyroid Gland Undifferentiated (Anaplastic) Carcinoma	EFO_1000595	[A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.]
thyroid carcinoma	EFO_0002892	[A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.]
large cell carcinoma	MONDO_0005232	[A malignant epithelial neoplasm composed of large, atypical cells.]
Tibial Adamantinoma	EFO_1000596	[An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).]
cancer of long bone of lower limb	MONDO_0000952	[A cancer that involves the hindlimb long bone.]