Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| BAsE-Seq | EFO_0010031 | [Method for obtaining long haplotypes, of over 3 kb in length, using a short-read sequencer,] |
| dysostosis with predominant vertebral with and without costal involvement | MONDO_0800075 | [Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body.] |
| 3-nitropropionic acid | CHEBI_16348 | [The 3-nitro derivative of propanoic acid., This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.] |
| body of uterus | UBERON_0009853 | [The part of the uterus above the isthmus and below the orifices of the uterine tubes.] |
| L-2-aminobutyrate | CHEBI_28340 | |
| phenol red | CHEBI_31991 | [3H-2,1-Benzoxathiole 1,1-dioxide in which both of the hydrogens at position 3 have been substituted by 4-hydroxyphenyl groups. A pH indicator changing colour from yellow below pH 6.8 to bright pink above pH 8.2, it is commonly used as an indicator in cell cultures and in home swimming pool test kits. It is also used in the (now infrequently performed) phenolsulfonphthalein (PSP) test for estimation of overall blood flow through the kidney., Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.] |
| Cerebellar-facial-dental syndrome | EFO_0009030 | [Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).] |
| microcephaly | MONDO_0001149 | [A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.] |
| Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | EFO_0009031 | [A multiple congenital anomaly syndrome with delayed psychomotor development with intellectual disability, short stature, obesity, variable dysmorphic facial features (round face, proptosis, hypertelorism, thick eyebrows and hair, long eyelashes, short nose and downturned corners of the mouth), heart defects, increased chance of chronic lung disease, skeletal defects such as brachydactyly, gastroesophageal reflux.] |
| cephalocele | MONDO_0017078 | [A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.] |
| Combined oxidative phosphorylation defect type 21 | EFO_0009032 | [Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.] |
| paroxysmal dystonia | MONDO_0016058 | |
| Combined oxidative phosphorylation defect type 23 | EFO_0009033 | [Combined oxidative phosphorylation defect type 23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).] |
| cleft lip/palate-deafness-sacral lipoma syndrome | MONDO_0016059 | [Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.] |
| atypical autism | MONDO_0016052 | [Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '] |
| 2OMe-seq | EFO_0010018 | [High-throughput single-base resolution mapping of RNA 2-O-methylated residues] |
| m6A-LAIC-seq | EFO_0010019 | [Sequencing approach to assess how many transcript copies of particular genes are N(6)-Methyladenosine (m(6)A) modified ('m(6)A levels') or the relationship of m(6)A modification(s) to alternative RNA isoforms. N(6)-Methyladenosine (m(6)A) is a widespread, reversible chemical modification of RNA molecules, implicated in many aspects of RNA metabolism. ] |
| RESA | EFO_0010027 | [Method that selects RNA elements based on their activity in vivo and uses high-throughput sequencing to provide quantitative measurement of their regulatory function with near nucleotide resolution] |
| Combined oxidative phosphorylation defect type 30 | EFO_0009038 | [A fatal systemic mitochondrial disease.] |
| Bile acid synthesis defect with cholestasis and malabsorption | Orphanet_163631 |