Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
palsy	EFO_1000631	[A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45), various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking.]
cerebral cortex disorder	MONDO_0044996	[A disease or disorder that involves the cerebral cortex.]
adenomatous colon polyp	EFO_1000633	[Presence of multiple adenomatous polyps in the colon., A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.]
polyp of colon	MONDO_0021400	[A polyp that involves the colon.]
colon adenoma	MONDO_0000527	[An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.]
marginal zone B-cell lymphoma	EFO_1000630	[A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.]
gastrointestinal lymphoma	MONDO_0004699	[A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.]
spleen cancer	EFO_0007491	[A malignant neoplasm involving the spleen]
indolent B-cell non-Hodgkin lymphoma	MONDO_0017594
obsolete_Phosphoenolpyruvate carboxykinase 2 deficiency	Orphanet_79317	[Phosphoenolpyruvate carboxykinase 2 deficiency (PEPCK2) is an autosomal recessive subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the mitochondrial form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. The clinical manifestations of PEPCK2 include hypoglycaemia, lactic acidosis, failure to thrive, developmental delay, seizures, hypotonia hepatomegaly with liver dysfunction and Fanconi syndrome Additional features that may be observed include microcephaly, anorexia, drowsiness, spasticity, cardiomyopathy, mild icterus and peripheral oedema.]
obsolete_Phosphoenolpyruvate carboxykinase 1 deficiency	Orphanet_79316	[Phosphoenolpyruvate carboxykinase 1 deficiency(PEPCK1) is a subtype of phosphoenolpyruvate carbokinase defiency (PEPCK; see this term) that results from a defect in the cytosolic form of the rate-limiting enzyme of the gluconeogenic pathway, PEPCK. Hypoglycaemia, hyperalaninaemia and hyperinsulinaemicmay may be observed in PEPCK1 infants. Lactic acidosis is usually not found.]
obsolete_MPI-CDG	Orphanet_79319
Isaacs syndrome	EFO_1000638	[A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement]
obsolete_PMM2-CDG	Orphanet_79318	[Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood.]
acquired metabolic disease	EFO_1000639	[An instance of metabolic disease that is acquired during the lifetime of the individual., A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption]
acquired	MONDO_0021141
inflammatory skin disease	EFO_1000636	[Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications These disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. ]
obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-	Orphanet_79312
acute respiratory distress syndrome	EFO_1000637	[Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.]
acute respiratory failure	MONDO_0001208	[Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.]