Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Common Hematopoietic Neoplasm	EFO_1000201	[URL: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7588&ns=NCI_Thesaurus]
Complex Endometrial Hyperplasia	EFO_1000202	[A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.]
Combined Lung Carcinoma	EFO_1000200	[A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.]
pulmonary neuroendocrine tumor	EFO_0005220	[A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.]
obsolete_combined oxidative phosphorylation defect type 8	Orphanet_319504
obsolete_selective pituitary resistance to thyroid hormone	Orphanet_165994
Craniopharyngioma	EFO_1000209	[A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)]
squamous cell neoplasm	MONDO_0002532	[A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.]
sella turcica neoplasm	MONDO_0002720	[A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.]
obsolete_cortex of kidney	EFO_1000207
Cortisol-Producing Adrenal Cortex Adenoma	EFO_1000208	[An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.]
Conjunctival Nevus	EFO_1000205	[A benign melanocytic neoplasm that arises from the conjunctiva.]
Conjunctival Squamous Cell Carcinoma	EFO_1000206	[A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.]
obsolete_combined oxidative phosphorylation defect type 14	Orphanet_319519
spastic paraplegia-epilepsy-intellectual disability syndrome	MONDO_0008439
hereditary spastic paraplegia 4	MONDO_0008438	[Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.]
pure or complex autosomal dominant spastic paraplegia	MONDO_0017914
hereditary spastic paraplegia 3A	MONDO_0008437	[Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.]
Dedifferentiated Solitary Fibrous Tumor	EFO_1000214	[A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.]
solitary fibrous tumor	MONDO_0016238	[Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).]