Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
late-onset myasthenia gravis	EFO_1001490	[Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma., late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older]
Myasthenia gravis	EFO_0004991	[A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459), Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.]
3-methyladipic acid	CHEBI_68503	[An alpha,omega-dicarboxylic acid that is adipic acid substituted with a methyl group at position C-3.]
obsolete_short rib-polydactyly syndrome, Majewski type	Orphanet_93269
Short rib-polydactyly syndrome, Beemer-Langer type	Orphanet_93268
histiocytic medullary reticulosis	EFO_1001499	[rare hereditary disease characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected]
disseminated atypical mycobacterial infection	EFO_1001498	[Atypical mycobacterial infections are infections caused by several types ofmycobacteria similar to the germ that causes tuberculosis. These atypical mycobacterial infections are a frequent complication in patients with human immunodeficiency virus (HIV) infection or AIDS.]
obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency	Orphanet_404499
L-Histidine to Uric acid ratio	EFO_0021679	[Quantification of the ratio of L-Histidine to Uric acid ratio in a sample.]
cardiac conduction defect	EFO_1001497	[heart rhythm disturbance where the heart’selectrical impulses are conducted very slowly.]
beta-Pseudouridine measurement	EFO_0021678	[Quantification of the amount of beta-Pseudouridine in a sample.]
Polycystic Kidney Disease	EFO_0008620	[A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCI ]]
small artery occlusion	EFO_1001495	[blockage of blood flow through a small artery, particularly in the brain]
obsolete_Short rib-polydactyly syndrome, Saldino-Noonan type	Orphanet_93270
Uridine 5-monophosphate measurement	EFO_0021675	[Quantification of the amount of Uridine 5-monophosphate in a sample.]
trans,trans-Muconic acid measurement	EFO_0021674	[Quantification of the amount of trans,trans-Muconic acid in a sample.]
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	Orphanet_404493
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Orphanet_404481
beta-Nicotinamide mononucleotide measurement	EFO_0021677	[Quantification of the amount of beta-Nicotinamide mononucleotide in a sample.]
Rhodococcus aetherivorans	NCBITaxon_191292