Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neuromuscular junction disease	MONDO_0020124	[Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.]
Marvinbryantia formatexigens DSM 14469	NCBITaxon_478749
fibrosarcomatous osteosarcoma	MONDO_0004301	[A conventional osteosarcoma characterized by the presence of spindle shaped cells.]
conventional osteosarcoma	MONDO_0002631	[A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.]
response to lithium ion	GO_0010226	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus. Lithium salts are used as mood stabilizing drugs.]
muscle-eye-brain disease	MONDO_0018939	[A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.]
qualitative or quantitative defects of protein O-mannosyltransferase 2	MONDO_0016185
nemaline myopathy	MONDO_0018958	[Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.]
obsolete_Familial hypercholanemia	Orphanet_238475	[Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.]
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease	Orphanet_263410
potassium-aggravated myotonia	MONDO_0018959	[Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.]
myotonic syndrome	MONDO_0016120
Loeys-Dietz syndrome	MONDO_0018954	[Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.]
parietal foramina	MONDO_0018953	[Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.]
cranial malformation	MONDO_0020018
bronchiectasis	MONDO_0004822	[Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.]
3-methylcrotonyl-CoA carboxylase deficiency	MONDO_0018950	[3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.]
distal myopathy with vocal cord weakness	MONDO_0018951	[Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.]
Burkholderia mallei	NCBITaxon_13373
Proteasome disability syndrome	Orphanet_324977	[ gene (6p21.3).]