Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
leather-bottle stomach	MONDO_0002839	[A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.]
Bandrowski's base	CHEBI_53109	[Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI), A quinone imine compound having amino substituents in the 2- and 5-positions and 4-aminophenyl substituents on both of the imine nitrogens.]
obsolete_dorsal trunk specific anlage	EFO_0000426
obsolete_dorsomedial neurosecretory cell	EFO_0000427
dose	EFO_0000428	[The total quantity or strength of a substance administered at one time.]
obsolete_Duchenne muscular dystrophy	EFO_0000429	[An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)]
familial ovarian cancer	MONDO_0016248	[An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.]
ponasterone A	CHEBI_28135	[A 14alpha-hydroxy steroid that has formula C27H44O6.]
hereditary site-specific ovarian cancer syndrome	MONDO_0016249	[Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.]
hemoglobin E disease	MONDO_0016243	[Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.]
complement deficiency	MONDO_0003832	[A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.]
hemolytic-uremic syndrome	MONDO_0001549	[Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.]
benzoate	CHEBI_16150	[The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1.]
hemimelia	MONDO_0016240	[Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.]
alternating hemiplegia of childhood	MONDO_0016241	[A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.]
hemoglobin C disease	MONDO_0016242	[Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).]
obsolete_ductal adenocarcinoma	EFO_0000430
obsolete_ductal breast carcinoma	EFO_0000431	[A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.]
breast ductal carcinoma in situ	EFO_0000432	[A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.]
duration	EFO_0000433	[A temporal measurement of the time between two specified points.]