Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
capitellum	FBbt_00004784	[Bulbous, distal-most segment of the haltere.]
short-rib thoracic dysplasia 10 with or without polydactyly	MONDO_0014284	[An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.]
hereditary spastic paraplegia 72	MONDO_0014282	[Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.]
pure hereditary spastic paraplegia	MONDO_0015149
neuropathy, hereditary sensory, type 1F	MONDO_0014286	[Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.]
corneo-scleral junction	UBERON_0006761	[The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm.]
marginal blastomere	ZFA_0000541	[Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres.]
chromosome 15q11.2 deletion syndrome	MONDO_0014294	[15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).]
leukoencephalopathy with mild cerebellar ataxia and white matter edema	MONDO_0014292
epithelium of conjunctiva	UBERON_0006763	[Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue.]
neurodegeneration with brain iron accumulation 6	MONDO_0014290	[COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.]
obsolete_parachordal vessel	EFO_0003701
obsolete_rostral blood island	EFO_0003700
obsolete_posterior lateral mesoderm	EFO_0003703
obsolete_anterior lateral mesoderm	EFO_0003702
1,9-dideoxyforskolin	CHEBI_50295	[A labdane diterpenoid that has formula C22H34O5.]
cadmium sulfate	CHEBI_50292	[A cadmium salt that has formula CdO4S.]
troglitazone	CHEBI_9753	[A chromane that has formula C24H27NO5S.]
Abnormal muscle fiber dystrophin expression	HP_0030096	[A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.]
obsolete_liver (Macaca mulatta)	EFO_0003716