Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| nasal cavity and paranasal sinus neoplasm | MONDO_0056820 | [A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.] |
| calcium(2+) | CHEBI_29108 | [A calcium cation that has formula Ca.] |
| aspartate aminotransferase, cytoplasmic measurement | EFO_0008031 | [quantification of the amount of aspartate aminotransferase, cytoplasmic in a sample] |
| 8p inverted duplication/deletion syndrome | MONDO_0019876 | [8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.] |
| basal cell adhesion molecule measurement | EFO_0008032 | [quantification of the amount of basal Cell Adhesion Molecule in a sample] |
| Beckwith-Wiedemann syndrome due to 11p15 microduplication | MONDO_0019875 | |
| distal trisomy 1p36 | MONDO_0019870 | [Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.] |
| partial duplication of the short arm of chromosome 1 | MONDO_0017012 | |
| obsolete_overgrowth syndrome | Orphanet_93460 | |
| distal trisomy 3p | MONDO_0019872 | [Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.] |
| distal trisomy 2p | MONDO_0019871 | [Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.] |
| BMI-adjusted fasting blood insulin measurement | EFO_0008037 | [fasting insulin measurement that has been adjusted for subjects' body mass index] |
| fasting blood insulin measurement | EFO_0004466 | [A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted] |
| BMI-adjusted hip bone size | EFO_0008038 | [hip bone size measurement that has been adjusted for subjects' body mass index] |
| erythritol | CHEBI_17113 | [The meso-diastereomer of butane-1,2,3,4-tetrol.] |
| BMI-adjusted hip circumference | EFO_0008039 | [hip circumference measurement that has been adjusted for subjects' body mass index] |
| beta-Ala-His dipeptidase measurement | EFO_0008033 | [quantification of the amount of beta-Ala-His dipeptidase in a sample] |
| beta-endorphin measurement | EFO_0008034 | [quantification of the amount of beta-endorphin in a sample] |
| beta-nerve growth factor measurement | EFO_0008035 | [quantification of the amount of beta-nerve growth factor in a sample] |
| oculopharyngeal myopathy with leukoencephalopathy 1 | MONDO_0032843 |