Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
small cell sarcoma	EFO_1001184	[A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.]
soft tissue sarcoma	EFO_1001968	[A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.]
primary malignant peritoneal tumor	MONDO_0015683
dental fluorosis	EFO_1000892	[A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel., A chronic endemic form of hypoplasia of the dental enamel caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)]
tooth disease	EFO_1001216	[Any disease of the teeth, A disease involving the calcareous tooth.]
denture stomatitis	EFO_1000893	[Inflammation of the mouth due to denture irritation.]
stomatitis	EFO_0009688	[Inflammation of the oral mucosa due to local or systemic factors. [database_cross_reference: NCIt:P378], Inflammation of the oral mucosa due to local or systemic factors.]
Dandy-Walker syndrome	EFO_1000890	[Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia., A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)]
cerebellar disorder	MONDO_0002427	[Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.]
genetic nervous system disorder	MONDO_0019117	[An instance of nervous system disease that is caused by a modification of the individual's genome.]
cystic malformation of the posterior fossa	MONDO_0020134
malformation of the cerebellar vermis	MONDO_0020130
De Quervain disease	EFO_1000891	[Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS., Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.]
bone disease	EFO_0004260	[Diseases of bones., Diseases of BONES.]
joint disease	EFO_1000999	[Any disorder of the joints., Any disorder of the joints]
3,3',4,4'-tetrachlorobiphenyl	CHEBI_1367	[A tetrachlorobiphenyl that has formula C12H6Cl4., A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)]
chemical entity	CHEBI_24431	[A drug, solvent, chemical, etc., with a property that can be measured such as concentration., A molecular entity consisting of two or more chemical elements.]
growth hormone secretion	GO_0030252	[The regulated release of growth hormone from secretory granules into the blood.]
hormone secretion	GO_0046879	[The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells.]
diaphragmatic eventration	EFO_1000898	[A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG., A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.]