Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
meningocele	MONDO_0001147	[A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.]
obsolete_response to haloperidol	EFO_0005765	[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 haloperidol stimulus.]
adrenal cortex neoplasm	MONDO_0036591	[A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)]
adrenal cortex	UBERON_0001235	[The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone.]
Large earlobe	HP_0009748	[Increased volume of the earlobe, that is, abnormally prominent ear lobules.]
obsolete_spinal muscular atrophy with respiratory distress	EFO_0003107
pneumonitis	EFO_1001991	[An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. [NCIt: ], An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.]
response to rate control therapy	EFO_0005768	[physiological response to treatment with rate control medication such as B blockers, calcium channel antagonists or digitalis]
obsolete_alopecia	EFO_0003109
calcium ion homeostasis	GO_0055074	[Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell.]
essential tremor	EFO_0003108	[A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms., A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)]
progeroid and marfanoid aspect-lipodystrophy syndrome	MONDO_0014831
dyskinesia, limb and orofacial, infantile-onset	MONDO_0014834
intellectual disability, autosomal recessive 53	MONDO_0014832
Short metatarsal	HP_0010743	[Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.]
cerebrovascular endothelial cell	BTO_0000238	[ Endothelial cell of or involving the cerebrum and the blood vessels supplying it. ]
Medial flaring of the eyebrow	HP_0010747	[An abnormal distribution of eyebrow hair growth in the medial direction.]
Prader-Willi syndrome due to point mutation	Orphanet_398069
Prader-Willi syndrome	MONDO_0008300	[Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.]
ectomesenchymoma	MONDO_0002855	[An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.]