Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Pseudomonas putida	NCBITaxon_303
core binding factor acute myeloid leukemia	EFO_1002001	[Acute myeloid leukemia characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults.]
macular telangiectasia type 2	EFO_1002009	[Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 40–60 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.0045–0.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellow–white parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.06–1.18% of the general population.]
obsolete_hereditary thrombocytopenia with normal platelets	Orphanet_268322
adult onset asthma	EFO_1002011	[Asthma that starts in adulthood]
TP53 Positive Breast Carcinoma	EFO_1002010	[A biologic subset of breast carcinoma defined by high expression of TP53]
Pseudomonas syringae pv. phaseolicola	NCBITaxon_319
embryoid body	UBERON_0014374	[Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells.]
future telencephalon	UBERON_0014371	[Embryonic structure that gives rise to the telencephalon.]
future forebrain	UBERON_0006240	[A presumptive structure that has the potential to develop into a forebrain.]
poorly differentiated follicular thyroid carcinoma	EFO_1002016	[carcinomas of the follicular thyroid epithelium that retain sufficient differentiation to produce scattered small follicular structures and some thyroglobulin, but generally lack the usual morphologic characteristics of papillary and follicular carcinoma]
HPV-associated cervical carcinoma	EFO_1002015	[a carcinoma that arises from the cervix and is caused by human papillomavirus infection]
melancholia	EFO_1002014	[A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite., a subtype of depression characterised by the inability to find pleasure in positive things combined with agitation, insomnia, or decreased appetite]
alcoholic pancreatitis	EFO_1002013	[Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.]
ligament rupture	EFO_1002012	[Partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee.]
macula densa	UBERON_0002335	[The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO].]
distal convoluted tubule	UBERON_0001292	[The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa.]
obsolete_cervicothoracic spina bifida aperta	Orphanet_268397
umbilical cord	UBERON_0002331	[The connecting cord from the developing embryo to the placenta.]
pulmonary trunk	UBERON_0002333	[An arterial trunk which is continuous with the heart and branches into the pulmonary arteries.]