Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
macroglobulinemia	EFO_0002616	[Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.]
plasma protein metabolism disease	MONDO_0002273	[An inherited metabolic disorder that involves plasma protein metabolism malfunction.]
internal carotid artery stenosis	EFO_0002615	[Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.]
metastatic melanoma	EFO_0002617	[A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.]
Astigmatism	HP_0000483	[A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.]
Abnormal cornea morphology	HP_0000481	[Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.]
obsolete_pituitary adenoma	EFO_0002619
Megalocornea	HP_0000485	[An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.]
nickel chloride hexahydrate	CHEBI_53542
congenital short bowel syndrome	MONDO_0014097	[Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.]
non-syndromic intestinal malformation	MONDO_0015211	[A intestinal malformation that is not part of a larger syndrome.]
microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	MONDO_0014096	[This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).]
severe congenital hypochromic anemia with ringed sideroblasts	MONDO_0014094	[STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.]
inherited sideroblastic anemia	MONDO_0020099
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Orphanet_371064
Syndromic neurometabolic disease with non-X-linked intellectual disability	Orphanet_182073
obsolete_primary hyperparathyroidism	EFO_0002620
septic peritonitis	EFO_0002623	[Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.]
peritonitis	EFO_0008588	[Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment., Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. [ NCI ]]
rotavirus infection	EFO_0002622	[A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain., Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.]