Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_X-linked recessive ocular albinism	Orphanet_54	[X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.]
encephalitozoonosis	EFO_0007250	[Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium., A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.]
obsolete_oculocutaneous albinism	Orphanet_55
mesothelial cell of large intestine	EFO_0010898	[A mesothelial cell that is part of the large intestine.]
epithelial cell of large intestine	CL_0002253	[An epithelial cell of the large intestine.]
obsolete_alkaptonuria	Orphanet_56
anti-merkel cell virus antibody measurement	EFO_0010899	[Quantification of one or more antibodies to the Merkel-cell virus, typically in serum.]
HER2 Positive Breast Carcinoma	EFO_1000294	[A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).]
Hidradenocarcinoma	EFO_1000295	[A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.]
sweat gland carcinoma	EFO_0005591	[A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.]
enterobiasis	EFO_0007254	[A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching., An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.]
constipation disorder	MONDO_0002203	[Irregular and infrequent or difficult evacuation of the bowels.]
Hepatoblastoma	EFO_1000292	[Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.]
Enoplea infectious disease	EFO_0007253	[A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands., Infections with nematodes of the order enoplida.]
Hepatoid Adenocarcinoma	EFO_1000293	[An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.]
hepatocyte	CL_0000182	[The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.]
extragonadal nonseminomatous germ cell tumor	MONDO_0003578	[A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.]
obsolete_hemopoietic system	EFO_1000290
epidemic pleurodynia	EFO_0007259	[An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses., A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache.]
Hepatic Granuloma	EFO_1000291	[A granuloma located in the liver.]