Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CXCL12 measurement	EFO_0009420	[Quantification of the amount of CXCL12 protein in a sample.]
obsolete_14q11.2 microduplication syndrome	Orphanet_261229
Vitis riparia	NCBITaxon_96939
CXCL13 measurement	EFO_0009421	[Quantification of the amount of CXCL13 protein in a sample.]
CXCL5 measurement	EFO_0009422	[Quantification of the amount of CXCL5 protein in a sample.]
arteriosclerosis obliterans	EFO_1000820	[Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION., Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.]
obsolete_behavioral variant of frontotemporal dementia	Orphanet_275864
embryonic lethality	EFO_0009427	[Death of an embryo (human or animal) within the embryonic period prior to organogenesis. In mouse, this is defined as prior to E14.]
phenotype	EFO_0000651	[The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease. The detectable outward manifestations of a specific genotype.]
synthetic lethality	EFO_0009428	[Death arising when a combination of deficiencies in the expression of two or more genes leads to cell death, whereas a deficiency in only one of these genes does not.]
Mycobacterium infection	EFO_0009429	[Infections with bacteria of the genus Mycobacterium.]
atrophy of thyroid	EFO_1000827	[Tissue degeneration and diminished size of the thyroid gland., Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.]
thyroid disease	EFO_1000627	[A disease involving the thyroid gland., A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages.]
B- and T-cell mixed leukemia	EFO_1000828	[An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)]
primary bone lymphoma	MONDO_0017814	[A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.]
mixed phenotype acute leukemia	MONDO_0020743	[An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.]
inherited acute myeloid leukemia	MONDO_0017893	[An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.]
acute lymphoblastic leukemia	EFO_0000220	[Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.]
Trichodysplasia - amelogenesis imperfecta	Orphanet_79129
Genetic malformation syndrome with odontal and/or periodontal component	Orphanet_183580