Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| aniridia-ptosis-intellectual disability-familial obesity syndrome | MONDO_0015198 | [Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.] |
| Mastomys natalensis | NCBITaxon_10112 | |
| hydrops fetalis | MONDO_0015193 | [Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).] |
| Rattus | NCBITaxon_10114 | |
| phosphatidylcholine 34:4 | CHEBI_64423 | [A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 34 carbons in total with 4 double bonds.] |
| Rattus rattus | NCBITaxon_10117 | |
| myopathic intestinal pseudoobstruction | MONDO_0015191 | |
| chronic intestinal pseudoobstruction | MONDO_0017574 | [Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.] |
| Salmonella enterica subsp. enterica serovar Agona | NCBITaxon_58095 | |
| leukodystrophy, hypomyelinating, 15 | MONDO_0054782 | |
| combined oxidative phosphorylation deficiency 36 | MONDO_0054781 | |
| 5,6-dihydrothymine | CHEBI_27468 | [A pyrimidone obtained by formal addition of hydrogen across the 5,6-position of thymine.] |
| multiple mitochondrial dysfunctions syndrome 6 | MONDO_0054785 | |
| Triticum dicoccoides | NCBITaxon_85692 | |
| hydrocephalus, congenital, 3, with brain anomalies | MONDO_0054794 | |
| N-acetylglycine | CHEBI_40410 | [An N-acylglycine where the acyl group is specified as acetyl.] |
| Lotus filicaulis | NCBITaxon_264956 | |
| Human immunodeficiency virus | NCBITaxon_12721 | |
| Familial multinodular goiter | Orphanet_276399 | |
| methyltestosterone | CHEBI_27436 |