Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| phosphatidylcholine 36:3 measurement | EFO_0010381 | [The quantification of phosphatidylcholine 36:3 levels in a sample.] |
| Bacillus thuringiensis Bt407 | NCBITaxon_527021 | |
| Sterkiella histriomuscorum | NCBITaxon_94289 | |
| obsolete_early myoclonic encephalopathy | Orphanet_1935 | |
| obsolete_rhizomelic chondrodysplasia punctata type 3 | Orphanet_309803 | |
| sulphur dioxide | CHEBI_18422 | [A sulfur oxide that has formula O2S.] |
| ventral mesoderm | UBERON_2000083 | |
| mesoderm | UBERON_0000926 | [The middle germ layer of the embryo, between the endoderm and ectoderm.] |
| obsolete_mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Orphanet_1933 | |
| obsolete_Early infantile epileptic encephalopathy | Orphanet_1934 | [Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.] |
| obsolete_frontal encephalocele | Orphanet_1931 | |
| Herpetic encephalitis | Orphanet_1930 | [Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal.] |
| Genetic susceptibility to infections due to particular pathogens | Orphanet_183710 | |
| obsolete_disorder of pterin metabolism | Orphanet_309819 | |
| Epilepsy - microcephaly - skeletal dysplasia | Orphanet_1948 | |
| Benign familial neonatal seizures | Orphanet_1949 | [Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age.] |
| Amelo-cerebro-hypohidrotic syndrome | Orphanet_1946 | |
| Progressive epilepsy - intellectual disability, Finnish type | Orphanet_1947 | [Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.] |
| Monogenic disease with epilepsy | Orphanet_166472 | |
| Unclassified primitive or secondary maculopathy | Orphanet_98666 |