Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Slurred speech	HP_0001350	[Abnormal coordination of muscles involved in speech.]
fear of minor pain measurement	EFO_0008340	[quantification of some aspect of fear of minor pain, generally assessed through the use of a structured questionnaire]
Locusta migratoria manilensis	NCBITaxon_229990
peroxisomal acyl-CoA oxidase deficiency	MONDO_0009919	[Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.]
familial hypertryptophanemia	MONDO_0010907	[Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.]
neonatal acute respiratory distress due to SP-B deficiency	MONDO_0009929
response to duloxetine	EFO_0008345	[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 an duloxetine stimulus. Duloxetine is a medication mostly used for major depressive disorder, generalized anxiety disorder, fibromyalgia and neuropathic pain.]
response to serotonin-norephinephrine reuptake inhibitor	EFO_0006325	[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 serotonin-norephinephrine reuptake inhibitor stimulus]
pulmonary alveolar microlithiasis	MONDO_0009928	[Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.]
family history of upper gastrointestinal cancer	EFO_0008346	[A reported family history of upper gastrointestinal cancer in one or more family members.]
response to trastuzumab	EFO_0008347	[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 trastuzumab stimulus. Trastuzumab, sold under the brand name Herceptin among others, is a monoclonal antibody used to treat breast cancer.]
loose anagen syndrome	MONDO_0010908	[Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.]
autosomal recessive multiple pterygium syndrome	MONDO_0009926	[A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.]
response to ranibizumab	EFO_0008348	[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 randibizumab stimulus. Randibizumab is a monoclonal antibody fragment used to treat the "wet" type of age-related macular degeneration.]
autosomal recessive inherited pseudoxanthoma elasticum	MONDO_0009925	[An autosomal recessive form of PXE.]
snoring measurement	EFO_0008341	[quantification of some aspect of snoring such as frequency or severity]
parental emotion expression measurmement	EFO_0008342	[quantification of some aspect parental emotion expression, such as the level of warmth expressed by a parent towards a child or the amount of criticism directed by a parent at a child. Emotion expression is evaluated by qualified professionals on the basis of parental responses during the clinical assessment]
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	MONDO_0009923	[A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.]
sex interaction measurement	EFO_0008343	[quantification of the interaction between some phenotype and biological sex]
response to placebo	EFO_0008344	[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 placebo stimulus. A placebo is a substance or treatment with no active therapeutic effect and which may be given to a person in order to deceive the recipient into thinking that it is an active treatment. ]