Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
corpus callosum volume measurement	EFO_0010299	[Quantification of the volume of the corpus callosum.]
corpus callosum central volume measurement	EFO_0010296	[Quantification of the volume of the corpus callosum central.]
corpus callosum mid-anterior volume measurement	EFO_0010297	[Quantification of the volume of the corpus callosum mid-anterior.]
corpus callosum anterior volume measurement	EFO_0010295	[Quantification of the volume of the corpus callosum anterior.]
Ectodermal dysplasia - intellectual disability - central nervous system malformation	Orphanet_1812
cerebral cortex volume measurement	EFO_0010292	[Quantification of the volume of the cerebral cortex.]
obsolete_autosomal dominant hypohidrotic ectodermal dysplasia	Orphanet_1810
choroid plexus volume measurement	EFO_0010293	[Quantification of the volume of the choroid plexus.]
obsolete_odontomicronychial dysplasia	Orphanet_1811
caudal middle frontal gyrus volume measurement	EFO_0010290	[Quantification of the volume of the caudal middle frontal gyrus.]
cerebellar cortex volume measurement	EFO_0010291	[Quantification of the volume of the cerebellar cortex.]
cerebellar volume measurement	EFO_0020864	[Quantification of the volume of the cerebellum.]
Acromelic frontonasal dysplasia	Orphanet_1827
Dysostosis with limb and face anomalies as a major feature	Orphanet_364571
Epiphyseal dysplasia - hearing loss - dysmorphism	Orphanet_1825
obsolete_frontometaphyseal dysplasia	Orphanet_1826
CITE-seq	EFO_0009294	[CITE-seq is a method in which oligonucleotide-labeled antibodies are used to integrate cellular protein and transcriptome measurements into an efficient, single-cell readout.]
single cell library construction	EFO_0010183	[A library preparation process that starts from a single cell.]
polyarteritis nodosa, childhoood-onset	EFO_0009295	[Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014).]
Polyarteritis Nodosa	EFO_0009012	[A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative. [ NCI ]]