Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| sphingomyelin 24:1 | CHEBI_91068 | [A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 24 with 1 double bond.] |
| sphingomyelin 22:0 | CHEBI_91066 | [A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 22 with zero double bonds.] |
| sphingomyelin 24:0 | CHEBI_91067 | [A sphingomyelin in which the total number of carbons contained in the sphingoid base and fatty acyl groups is 24 with zero double bonds.] |
| Karenia brevis | NCBITaxon_156230 | |
| retinitis pigmentosa 89 | MONDO_0030071 | |
| heterotaxy, visceral, 9, autosomal, with male infertility | MONDO_0030070 | |
| Mitchell syndrome | MONDO_0030073 | |
| alliin | CHEBI_2596 | [An L-alanine derivative in which one of the methyl hydrogens of L-alanine has been replaced by an (S)-allylsulfinyl group.] |
| developmental and epileptic encephalopathy, 88 | MONDO_0030072 | |
| isolated focal cortical dysplasia type Ib | MONDO_0017097 | |
| isolated focal cortical dysplasia type I | MONDO_0017095 | |
| spondylometaphyseal dysplasia with corneal dystrophy | MONDO_0030074 | |
| isolated focal cortical dysplasia type Ic | MONDO_0017098 | |
| unilateral focal polymicrogyria | MONDO_0017093 | [Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.] |
| unilateral polymicrogyria | MONDO_0017092 | [Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.] |
| isolated focal cortical dysplasia type Ia | MONDO_0017096 | |
| neurodevelopmental disorder with language impairment and behavioral abnormalities | MONDO_0030060 | |
| arrhythmogenic right ventricular dysplasia, familial, 14 | MONDO_0030062 | |
| periventricular nodular heterotopia 9 | MONDO_0030061 | |
| Treacher Collins syndrome 4 | MONDO_0030067 |