Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
leukoencephalopathy with bilateral anterior temporal lobe cysts	MONDO_0015348	[Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.]
Jeavons syndrome	MONDO_0015346	[Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.]
progressive cavitating leukoencephalopathy	MONDO_0015349	[Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.]
idiopathic acute transverse myelitis	MONDO_0015344	[Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.]
acute transverse myelitis	MONDO_0015342	[Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).]
nilotinib	CHEBI_52172	[An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04), An organofluorine compound that has formula C28H22F3N7O.]
obsolete_ataxia neuropathy spectrum	Orphanet_254818
tanespimycin	CHEBI_64153
Saccharum officinarum complex	NCBITaxon_286192
hydrarthrosis	MONDO_0003366	[Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)]
2-methyl-6-(phenylethynyl)pyridine hydrochloride	CHEBI_64158
imetit dihydrobromide	CHEBI_64151
progesterone receptor binding	GO_0033142	[Interacting selectively and non-covalently with a progesterone receptor.]
hypokalemic periodic paralysis, type 1	MONDO_0042979
hypokalemic periodic paralysis	MONDO_0008223	[Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.]
nonadecanoate	CHEBI_78796	[A nineteen carbon straight-chain fatty acid anion. Major species at pH 7.3.]
wortmannin	CHEBI_52289	[An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks).]
neuropathy with hearing impairment	MONDO_0015351	[This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.]
17q11.2 microduplication syndrome	MONDO_0015350	[17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.]
distal hereditary motor neuropathy type 7	MONDO_0015355	[Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.]