Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Mitochondrial disease with eye involvement	Orphanet_98695
Metabolic disease with intestinal involvement	Orphanet_104013
coactosin-like protein measurement	EFO_0020262	[The determination of the amount of coactosin-like protein in a sample]
obsolete_distal renal tubular acidosis	Orphanet_18
Velopharyngeal insufficiency	HP_0000220	[Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.]
coagulation factor IX measurement	EFO_0020263	[The determination of the amount of coagulation factor IX in a sample]
obsolete_2-hydroxyglutaric aciduria	Orphanet_19	[2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.]
coagulation factor IXAB measurement	EFO_0020264	[The determination of the amount of coagulation factor IXAB in a sample]
Hyperventilation	HP_0002883	[Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.]
1p36 deletion syndrome	Orphanet_1606	[1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.]
coagulation factor X measurement	EFO_0020265	[The determination of the amount of coagulation factor X in a sample]
Goodpasture syndrome	EFO_0007290	[A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung., An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.]
Reduced sperm motility	HP_0012207	[An abnormal reduction in the mobility of ejaculated sperm.]
ciliary neurotrophic factor measurement	EFO_0020260	[The determination of the amount of ciliary neurotrophic factor in a sample]
obsolete_qualitative or quantitative defects of protein SERCA1	Orphanet_209199
ciliary neurotrophic factor receptor subunit alpha measurement	EFO_0020261	[The determination of the amount of ciliary neurotrophic factor receptor subunit alpha in a sample]
Hantavirus infectious disease	EFO_0007295	[A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema., Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.]
obsolete_isolated autosomal dominant hypomagnesemia, Glaudemans type	Orphanet_199326
obsolete_48,XXYY syndrome	Orphanet_10	[The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.]
hand, foot and mouth disease	EFO_0007294	[A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet., A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.]