Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
adamantinoma	MONDO_0002422	[A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.]
Genetic bone tumor	Orphanet_183527
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation	EFO_1000593	[A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.]
Thyroid Gland Squamous Cell Carcinoma	EFO_1000594	[A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.]
behavior	GO_0007610	[The observable response a person makes to any situation., The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. E.g. Fixed action pattern courtship behaviour in Drosophila. Forager behaviour in honey bees.]
obsolete rare male infertility due to testicular endocrine disorder	MONDO_0018388
osteochondrosis of genetic origin	MONDO_0018385	[An instance of osteochondrosis that is caused by a modification of the individual's genome.]
osteonecrosis of genetic origin	MONDO_0018383	[An instance of osteonecrosis that is caused by a modification of the individual's genome.]
avascular necrosis of genetic origin	MONDO_0018384	[An instance of avascular necrosis that is caused by a modification of the individual's genome.]
Paralytic ileus	HP_0002590
Plasmodium falciparum	NCBITaxon_5833
Chest pain	HP_0100749	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.]
Constitutional symptom	HP_0025142	[A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.]
Clubbing of fingers	HP_0100759	[Terminal broadening of the fingers (distal phalanges of the fingers).]
Abnormality of finger	HP_0001167	[An anomaly of a finger.]
male infertility with teratozoospermia due to single gene mutation	MONDO_0018394	[Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.]
male infertility	EFO_0004248	[The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility., The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.]
male infertility with azoospermia or oligozoospermia due to single gene mutation	MONDO_0018393	[Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.]
Plasmodium berghei	NCBITaxon_5821
obsolete_Immunodeficiency with factor I anomaly	Orphanet_200418