Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
C-C motif chemokine 3-like 1 measurement	EFO_0008052	[quantification of the amount of C-C motif chemokine 3-like 1 in a sample]
distal monosomy 4q	MONDO_0019895
prion disease	EFO_0004720	[A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83), A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.]
3-methyl-2-oxobutyrate measurement	EFO_0021020	[Quantification of the amount of 3-methyl-2-oxobutyrate in a sample.]
C-C motif chemokine 5 measurement	EFO_0008053	[quantification of the amount of C-C motif chemokine 5 in a sample]
distal monosomy 14q	MONDO_0019898	[Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.]
familial omphalocele syndrome with facial dysmorphism	MONDO_0017235	[Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.]
C-C motif chemokine 7 measurement	EFO_0008054	[quantification of the amount of C-C motif chemokine 7 in a sample]
rapidly progressive glomerulonephritis	MONDO_0017236	[Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.]
distal monosomy 12q	MONDO_0019897
distal monosomy 7p	MONDO_0019892
monosomy 22	MONDO_0019891
monosomy	MONDO_0020639	[A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.]
autosomal semi-dominant severe lipodystrophic laminopathy	MONDO_0017230
erythropoietic uroporphyria associated with myeloid malignancy	MONDO_0017231
C-C motif chemokine 25 measurement	EFO_0008050	[quantification of the amount of C-C motif chemokine 25 in a sample]
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	MONDO_0017232	[Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.]
distal monosomy 19p13.3	MONDO_0019893	[Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).]
C-X-C motif chemokine 6 measurement	EFO_0008059	[quantification of the amount of C-X-C motif chemokine 6 in a sample]
non-distal trisomy 9q	MONDO_0019890	[Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.]