Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
developmental and epileptic encephalopathy, 8	MONDO_0010375
hereditary hyperekplexia	MONDO_0021022	[Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.]
X-linked hereditary sensory and autonomic neuropathy with hearing loss	MONDO_0010378	[This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.]
Dubin-Johnson syndrome	MONDO_0009380	[Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.]
Brunner syndrome	MONDO_0010379	[Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.]
obsolete Clark-Baraitser syndrome	MONDO_0010372
Aland island eye disease	MONDO_0010371	[An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.]
single cell specimen	EFO_0007831	[a sample specimen consisting of exactly 1 cell]
food addiction measurement	EFO_0007830	[quantification of some aspect of food addiction such as presence or absence or severity of symptoms, usually assessed through a standarised questionnaire or structured interview with a mental health professional]
alcohol dependence measurement	EFO_0007835	[quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence]
liver dysplastic nodule	EFO_0007834	[A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade. ]
C3H/HeOuJ	EFO_0007833	[C3H/HeOuJ mice are used as a general purpose strain in a wide variety of research areas including cancer and sensorineural, research. C3H/HeOuJ mice and all other C3H substrains at The Jackson Laboratory are homozygous for the retinal degeneration 1 mutation (Pde6brd1), causing blindness by weaning age. There is also a high incidence of hepatomas in C3H mice. This strain does not carry mouse mammary tumor virus (MMTV), but virgin and breeding females may still develop some mammary tumors later in life. ]
single cell sequencing	EFO_0007832	[Single cell sequencing examines the sequence information from individual cells with optimized next generation sequencing (NGS) technologies, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment.]
CAROLI/EiJ	EFO_0007839	[CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. ]
Mus caroli	NCBITaxon_10089
response to anti-thyroid drug	EFO_0007838	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with an anti-thyroid drug, used to treat hyperthyroidism by reducing the excessive production of thyroid hormones.]
hyperlysinemia	MONDO_0009388	[Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.]
anti-citrullinated protein antibody seropositivity	EFO_0007837	[anti-citrullinated protein antibody seropositivity is the result of a measurement of circulating anti-cyclic citrullinated peptide antibodies]
anti-cyclic citrullinated peptide antibody measurement	EFO_0004733	[Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis.]
familial lipoprotein lipase deficiency	MONDO_0009387	[Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.]