Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
coenzyme Q10 deficiency	MONDO_0018151	[A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.]
ataxia telangiectasia	MONDO_0008840	[Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.]
skin vascular disease	MONDO_0019293	[A disease that involves the superficial vasculature.]
inherited nervous system cancer-predisposing syndrome	MONDO_0016756
combined immunodeficiency	MONDO_0015131	[A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.]
neurocutaneous syndrome	MONDO_0042983	[A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.]
lateral line ganglion	UBERON_2000120	[Ganglion that develops from a cranial ectodermal placode and contains sensory neurons that innervate a lateral line.]
lateral line system	UBERON_0002540	[A line of sensory organs and associated structures along the sides of fish and amphibia that detect vibrations and pressure changes.]
Poor speech	HP_0002465
Distal muscle weakness	HP_0002460	[Reduced strength of the musculature of the distal extremities.]
Muscle weakness	HP_0001324	[Reduced strength of muscles.]
Conjunctival Disorder	EFO_1000203	[Any disorder of the conjunctiva., Any disorder of the conjunctiva. ]
hypoparathyroidism	EFO_0009451	[Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body., Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ]]
parathyroid disease	EFO_0005754	[a disease that occurs in the parathyroid, A disease involving the parathyroid gland.]
triacylglycerol 58:11 measurement	EFO_0010438	[The quantification of triacylglycerol 58:11 levels in some body fluid, used as a biomarker for disease.]
Methylmalonic acidemia with homocystinuria, type cblD	Orphanet_79283	[ type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.]
Methylmalonic acidemia with homocystinuria	Orphanet_26	[Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms).]
triacylglycerol 58:12 measurement	EFO_0010439	[The quantification of triacylglycerol 58:12 levels in some body fluid, used as a biomarker for disease.]
Methylmalonic acidemia with homocystinuria, type cblC	Orphanet_79282	[ type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.]
silicotuberculosis	MONDO_0021804	[Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.]