Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
diaphragm disease	EFO_0007233	[a disease in diaphragm, A disease involving the diaphragm.]
diastolic heart failure	EFO_1000899	[Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling., Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.]
congestive heart failure	EFO_0000373	[1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations., Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales., Heart failure involving the RIGHT VENTRICLE., Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation)., Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs., A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION., Heart failure involving the LEFT VENTRICLE.]
Tyrosinemia type 3	Orphanet_69723	[Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.]
Disorder of phenylalanin or tyrosine metabolism	Orphanet_79190
obsolete_Tangier disease	Orphanet_31150	[Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.]
obsolete_hypoalphalipoproteinemia	Orphanet_31153
obsolete_hypobetalipoproteinemia	Orphanet_31154
Anaeromyxobacter dehalogenans 2CP-C	NCBITaxon_290397
Bacteria	NCBITaxon_2
obsolete_20p12.3 microdeletion syndrome	Orphanet_261295	[20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.]
obsolete_trisomy 17p	Orphanet_261290
obsolete_hereditary myopathy with lactic acidosis due to ISCU deficiency	Orphanet_43115
Athabaskan brainstem dysgenesis syndrome	Orphanet_69739
Rare genetic neurological disorder	Orphanet_71859
Syndromic genetic deafness	Orphanet_90642
obsolete_Bosley-Salih-Alorainy syndrome	Orphanet_69737
Hypotrichosis - lymphedema - telangiectasia	Orphanet_69735	[Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.]
skin disease	EFO_0000701	[Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.]
Senecio vulgaris subsp. vulgaris	NCBITaxon_121558