Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glial brain cell	EFO_1001464
obsolete corneoiridogoniodysgenesis	MONDO_0020220
idiopathic urticaria	MONDO_0044211
erysipelas	EFO_1001462	[an acute, sometimes recurrent disease caused by a bacterial infection, characterized by large raised red patches on the skin., An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.]
hereditary hypercarotenemia and vitamin A deficiency	MONDO_0007272	[Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.]
familial cutaneous collagenoma	MONDO_0007271	[Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.]
vitreous syneresis	MONDO_0001377
mild phenylketonuria	MONDO_0019258	[Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.]
hemochromatosis type 2	MONDO_0019257	[Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.]
classic phenylketonuria	MONDO_0019259	[Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.]
steroid metabolism disease	MONDO_0045012	[A disease that has its basis in the disruption of steroid metabolic process.]
Merkel cell skin cancer	EFO_1001471	[A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)]
merkel cell	EFO_1001470
obsolete oculomotor apraxia or related oculomotor disease	MONDO_0020258
supranuclear oculomotor palsy	MONDO_0020257	[Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.]
oculomotor nerve paralysis	MONDO_0001309	[Paralysis of the oculomotor nerve.]
Tumor Lysis Syndrome	EFO_1001479	[a group of metabolic abnormalities that can occur as a complication during the treatment of cancer, most commonly after the treatment of lymphomas and leukemias.]
fourth cranial nerve palsy	MONDO_0001146	[A cranial nerve palsy that involves the trochlear nerve.]
systemic inflammatory response syndrome	EFO_1001478	[SIRS is a serious condition related to systemic inflammation, organ dysfunction, and organ failure. It is a subset of cytokine storm, in which there is abnormal regulation of various cytokines. SIRS is also closely related to sepsis, in which patients satisfy criteria for SIRS and have a suspected or proven infection.]
Systemic capillary leak syndrome	EFO_1001477	[Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.]