Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| inborn disorder of pyrimidine metabolism | MONDO_0019238 | [ANPM] |
| obsolete_rectal duplication | Orphanet_171220 | |
| opportunistic infectious | MONDO_0045035 | [A characteristic of an infectious disease in which the disease affects an immunologically compromised host.] |
| papillary squamous carcinoma | MONDO_0002979 | [A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.] |
| Ruegeria pomeroyi DSS-3 | NCBITaxon_246200 | |
| High anterior hairline | HP_0009890 | [Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.] |
| bronchoalveolar lavage | BTO_0000155 | [the collection of bronchoalveolar lavage fluid (BAL) from the lungs] |
| lavage | OBI_0600044 | [A protocol application to separate cells and/or cellular secretions from an anatomical space by the introduction and removal of fluid] |
| infected cell | BTO_0000152 | |
| flagellin | EFO_0003241 | |
| Leu-Gly | CHEBI_74534 | [A dipeptide formed from L-leucine and glycine residues.] |
| Harel-Yoon syndrome | MONDO_0014958 | |
| language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | MONDO_0014957 | |
| arsenic oxide | CHEBI_50527 | |
| distal 10q deletion syndrome | MONDO_0012315 | [Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.] |
| partial monosomy of the long arm of chromosome 10 | MONDO_0016909 | |
| Majeed syndrome | MONDO_0012316 | [Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.] |
| pyogenic autoinflammatory syndrome | MONDO_0017954 | |
| constitutional dyserythropoietic anemia | MONDO_0017397 | |
| Recurrent subcortical infarcts | HP_0007236 |