Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
primary failure of tooth eruption	MONDO_0007434
Paraplegia - intellectual disability - hyperkeratosis	Orphanet_2824
dentatorubral-pallidoluysian atrophy	MONDO_0007435	[Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.]
Paraplegia - brachydactyly - cone-shaped epiphysis	Orphanet_2823
cerebrovascular dementia	MONDO_0020144
Autosomal recessive spastic paraplegia type 11	Orphanet_2822
Spastic paraplegia - neuropathy - poikiloderma	Orphanet_2821
Spastic paraplegia - nephritis - deafness	Orphanet_2820
obsolete_partial trisomy of the long arm of chromosome 16	Orphanet_262959
permethrin	CHEBI_34911	[Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.]
cerebral white matter volume change measurement	EFO_0021499	[Quantification of the change in cerebral white matter volume over time.]
cerebellum white matter volume change measurement	EFO_0021498	[Quantification of the change in cerebellum white matter volume over time.]
X-linked neurodegenerative syndrome, Bertini type	MONDO_0019427	[X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.]
putamen volume change measurement	EFO_0021495	[Quantification of the change in putamen volume over time.]
putamen volume	EFO_0006932	[quantification of the volume of the putamen, a round structure located at the base of the forebrain]
obsolete_pelvis-shoulder dysplasia	Orphanet_2839
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	MONDO_0019426	[X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.]
pallidum volume change measurement	EFO_0021494	[Quantification of the change in pallidum volume over time.]
pallidum volume	EFO_0006933	[quantification of the volume of the pallidum or globus pallidus, a sub-cortical structure of the brain that is part of the telencephalon]
X-linked neurodegenerative syndrome, Hamel type	MONDO_0019429	[X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.]