Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
tricuspid valve disease	EFO_0009568	[A disease involving the tricuspid valve.]
heart valve disease	EFO_0009551	[A disease involving the cardial valve.]
Physcomitrella patens	NCBITaxon_3218
bilateral striopallidodentate calcinosis	MONDO_0008947	[A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.]
retinal vasculature measurement	EFO_0010554	[A quantification of some aspect of the vasculature of the retina, for example retinal venular tortuousity.]
trigeminal nerve disease	EFO_0009569	[A disease involving the trigeminal nerve.]
cranial nerve neuropathy	MONDO_0003569	[A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.]
head disorder	MONDO_0005042	[A disease involving the head.]
xanthurenate measurement	EFO_0010551	[Quantification of xanthurenate levels in a sample.]
carboxylic acid measurement	EFO_0010468	[Quantification of carboxylic acid levels in a sample.]
peripheral neuropathy	EFO_0003100	[A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.]
social environment measurement	EFO_0010552	[A measurement of some aspect of an individual's social environment, including the people with whom they interact and the culture and behaviours to which they are exposed.]
protein energy malnutrition	EFO_0009563	[A nutritional deficit that is caused by inadequate protein or calorie intake.]
pulmonary valve disease	EFO_0009564	[A disease involving the pulmonary valve.]
Theileria parva	NCBITaxon_5875
autosomal recessive spinocerebellar ataxia 2	MONDO_0008943	[The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.]
autosomal recessive congenital cerebellar ataxia	MONDO_0020043
radiation-induced disorder	EFO_0009565	[A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.]
sci-RNA-seq	EFO_0010550	[The sci-RNA-seq uses the combinatorial indexing to identify single cells without single cell isolation. Two-level indexing (RT barcode + PCR barcodes (i5 + i7)) or three-level indexing (RT barcode + PCR barcodes (i5 + i7) + Tn5 barcodes) can be used. Three-level indexing is a bit more difficult since you need to assemble many indexed Tn5 transposomes.]
hepatic fibrosis-renal cysts-intellectual disability syndrome	MONDO_0008941	[A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.]