Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acute myeloid leukemia, NRAS gene mutation	MONDO_0100424	[Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)]
acute myeloid leukemia, KRAS gene mutation	MONDO_0100425	[Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)]
iatrogenic or non-iatrogenic	MONDO_0100369	[A iatrogenic or non-iatrogenic form of a disease.]
autosomal recessive Stickler syndrome	MONDO_0016647	[A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.]
multiple epiphyseal dysplasia and pseudoachondroplasia	MONDO_0019692
Stickler syndrome	MONDO_0019354	[Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).]
multiple epiphyseal dysplasia	MONDO_0016648	[Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.]
Warburg micro syndrome	MONDO_0016649	[Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.]
lissencephaly spectrum disorders	MONDO_0018838	[The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.]
frontonasal dysplasia	MONDO_0016643	[A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.]
autosomal dominant optic atrophy and peripheral neuropathy	MONDO_0016646	[Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.]
autosomal dominant optic atrophy	MONDO_0020250	[An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.]
tumor necrosis factor alpha gene expression measurement	EFO_0600069	[Quantification of the expression of the TNFA gene, which encodes tumor necrosis factor-alpha.]
gene expression measurement	EFO_0600068	[Quantification of the expression of a gene in a cell, tissue or sample.]
obsolete fibrous dysplasia of bone	MONDO_0016640
limb transversal defect-cardiac anomaly syndrome	MONDO_0016641
meningioma	MONDO_0016642	[A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)]
response to tolvaptan	EFO_0600065	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with tolvaptan, an aquaretic drug that functions as a selective, competitive vasopressin receptor 2 (V2) antagonist.]
serum lipopolysaccharide activity	EFO_0600064	[Quantification of lipopolysaccharide activity in serum.]
mastiha supplement exposure measurement	EFO_0600067	[Quantification of some aspect of the consumption of mastiha, a natural nutritional supplement known to possess antioxidant and anti-inflammatory properties.]