Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
atrial heart septal defect	EFO_1000825	[Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart., Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.]
atrial defect and interatrial communication	MONDO_0020294
heart septal defect	MONDO_0002078	[A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.]
genetic cardiac anomaly	MONDO_0017131
atrophic gastritis	EFO_1000826	[GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis., Atrophic gastritis that is persistent and long-standing.]
chronic gastritis	EFO_0000337	[Inflammation of the stomach that is chronic in nature., A stomach disease that is an inflammation of the lining of the stomach.]
2-hydroxyadipate(2-)	CHEBI_57987	[Dicarboxylate anion of 2-hydroxyadipic acid; major species at pH 7.3.]
aseptic meningitis	EFO_1000823	[A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745), Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.]
meningitis	MONDO_0021108	[A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.]
asphyxia neonatorum	EFO_1000824	[Respiratory failure in the newborn. (Dorland, 27th ed), A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.]
respiratory system disease	EFO_0000684	[A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs., A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.]
perinatal disease	EFO_0010238	[A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.]
arthus reaction	EFO_1000821	[A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis., A localized vasculitis resulting from deposition of antibody-antigen complexes.]
type III hypersensitivity reaction disease	EFO_1001222	[Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA., Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.]
ascorbic acid deficiency	EFO_1000822	[A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177), A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)]
disorder of organic acid metabolism	MONDO_0045022	[A disease that has its basis in the disruption of organic acid metabolic process.]
carbohydrate metabolism disease	MONDO_0037792	[A disease that has its basis in the disruption of carbohydrate metabolic process.]
nutritional deficiency disease	EFO_1001067	[A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed), Any condition resulting from the lack of one or more nutrients that the body needs to maintain healthy tissues and organ function]
Hepatic veno-occlusive disease - immunodeficiency	Orphanet_79124
immunodeficiency disease	MONDO_0021094	[Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.]