Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
systemic scleroderma	EFO_0000717	[A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA., A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies., A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.]
4,5-dianilinophthalimide	CHEBI_53110
8-(3-chlorostyryl) caffeine	CHEBI_53115	[Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group.]
congenital cornea plana	MONDO_0018888
cornea plana	MONDO_0000733
disease free survival	EFO_0000409	[A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease.]
event free survival time	EFO_0000482	[Is the survival of a subject (or group of subjects) measured from the date of diagnosis until locoregional or systemic recurrence, second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause.]
specific language disorder	MONDO_0016226
hereditary episodic ataxia	MONDO_0016227	[Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.]
hyaline body myopathy	MONDO_0018889
Roch-Leri mesosomatous lipomatosis	MONDO_0018884	[Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.]
Berardinelli-Seip congenital lipodystrophy	MONDO_0018883	[A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.]
spindle cell hemangioma	MONDO_0016222	[Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.]
infantile hemangioma of rare localization	MONDO_0016223
proximal spinal muscular atrophy	MONDO_0019079	[Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.]
Ginkgo biloba	NCBITaxon_3311
Salmonella enterica subsp. enterica serovar Dublin	NCBITaxon_98360
ependymal tumor of brain	MONDO_0004245	[A tumor arising from the ependymal lining of the ventricles.]
obsolete_disease state	EFO_0000411	[The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia]
distant metastasis free survival	EFO_0000412	[Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer.]