Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial juvenile hyperuricemic nephropathy	MONDO_0000608
pre-malignant neoplasm	MONDO_0000611	[A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.]
obsolete_Joubert syndrome with renal defect	Orphanet_220497	[Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.]
EMG: neuropathic changes	HP_0003445	[The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).]
obsolete_Joubert syndrome with ocular defect	Orphanet_220493	[Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.]
biotin metabolic process	GO_0006768	[The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions.]
abdominal aortic raised atherosclerotic lesion	EFO_0005601	[An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions.]
age at alcohol diagnosis	EFO_0005602
age at diagnosis	EFO_0004918	[The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer.]
abdominal aortic fatty streak	EFO_0005600	[A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques]
family history of breast cancer	EFO_0005606	[A reported family history of breast cancer in one or more family members.]
age at breast cancer diagnosis	EFO_0005603
EMG: myopathic abnormalities	HP_0003458	[The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.]
thiamine metabolic process	GO_0006772	[The chemical reactions and pathways involving thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver.]
Rare hereditary hemochromatosis	Orphanet_220489	[Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.]
polyhydramnios, megalencephaly, and symptomatic epilepsy	MONDO_0012611
obsolete_maternal uniparental disomy of chromosome 13	Orphanet_97678
vitamin A metabolic process	GO_0006776	[The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene.]
benign connective and soft tissue neoplasm	MONDO_0000654	[A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.]
isolated microphthalmia 5	MONDO_0012605	[Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.]