Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| mild heart failure | EFO_0003147 | [Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.] |
| symptomatic heart failure | EFO_0003146 | [A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exercise… etc, A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc] |
| advanced heart failure | EFO_0003149 | [Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.] |
| moderate heart failure | EFO_0003148 | [Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20–100 m). Patients with moderate heart failure are comfortable only at rest., Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.] |
| obsolete_spinocerebellar ataxia type 31 | Orphanet_217012 | |
| hereditary spastic paraplegia 26 | MONDO_0012213 | [A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.] |
| Salmonella enterica | NCBITaxon_28901 | |
| nevus comedonicus syndrome | MONDO_0014873 | [A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.] |
| MPDU1-CDG | MONDO_0012211 | [The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.] |
| foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | MONDO_0012216 | |
| foveal hypoplasia | MONDO_0044203 | |
| patent ductus arteriosus 2 | MONDO_0014878 | |
| bis(2-chloroethyl) sulfide | CHEBI_25434 | [An ethyl sulfide that has formula C4H8Cl2S.] |
| alkylating agent role | CHEBI_22333 | [Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases.] |
| mutagen | CHEBI_25435 | [An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution.] |
| Salmonella enterica subsp. enterica serovar Abortusovis | NCBITaxon_53961 | |
| obsolete_Arabidopsis Growth Stage 6.10 | EFO_0005792 | [10% of flowers to be produced have opened] |
| HCC193 | EFO_0003130 | |
| HCC4006 | EFO_0003132 | |
| HCC366 | EFO_0003131 |