Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial osteosclerosis	MONDO_0042973	[An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.]
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	MONDO_0017199	[Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.]
symptomatic form of Coffin-Lowry syndrome in female carriers	MONDO_0017193
Blount disease	MONDO_0017194	[Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.]
Bruck syndrome	MONDO_0017195	[Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.]
desmoplastic melanoma	MONDO_0044785	[A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.]
nasal cavity and paranasal sinus squamous cell carcinoma	MONDO_0044787	[A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.]
esophageal ulcer	MONDO_0044782	[An ulcerated lesion in the esophageal wall.]
myxoma	MONDO_0044784	[A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.]
combined hepatocellular carcinoma and cholangiocarcinoma	MONDO_0044791	[A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.]
spitz nevus	MONDO_0044793	[A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.]
benign melanocytic skin nevus	MONDO_0044794	[A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.]
large congenital melanocytic nevus	MONDO_0044792	[A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.]
cutaneous squamous cell carcinoma	EFO_1001927	[squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians]
pathological gambling	EFO_1001926	[A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity., An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. [url:http://www.forensicpsychiatry.ca/impulse/gambling.htm ]]
gambling behaviour	EFO_0004699	[An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money.]
pneumococcal bacteremia	EFO_1001925	[Presence of pneumococcus bacteria in the blood]
varicose ulcer	EFO_1001923	[Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg.]
tracheobronchial amyloidosis	EFO_1001922	[Tracheobronchial amyloidosis is characterized by amyloid deposition in various segments of the tracheobronchial tree. Most cases represent localized AL amyloidosis and are restricted to the tracheobronchial tree. [PMID:28134587]]
pulmonary amyloidosis	EFO_1001910	[Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. [PMID:26574992]]