Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| smoking cessation | EFO_0004319 | [Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.] |
| Salmonella enterica subsp. enterica | NCBITaxon_59201 | |
| malignant colon neoplasm | MONDO_0021063 | [A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.] |
| esophageal leukoplakia | MONDO_0004697 | [A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.] |
| Anophthalmia | HP_0000528 | [Absence of the globe or eyeball.] |
| Progressive visual loss | HP_0000529 | [A reduction of previously attained ability to see.] |
| cecum cancer | MONDO_0002033 | [A malignant neoplasm involving the caecum] |
| Long eyelashes | HP_0000527 | [Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).] |
| distal arthrogryposis type 5D | MONDO_0014028 | [Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.] |
| lower motor neuron syndrome with late-adult onset | MONDO_0014025 | |
| Downslanted palpebral fissures | HP_0000494 | [The palpebral fissure inclination is more than two standard deviations below the mean.] |
| Deeply set eye | HP_0000490 | [An eye that is more deeply recessed into the plane of the face than is typical.] |
| gliomatosis cerebri | MONDO_0016683 | [A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)] |
| high grade astrocytic tumor | MONDO_0016680 | [An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).] |
| hereditary spastic paraplegia 55 | MONDO_0014020 | |
| c12orf65-related combined oxidative phosphorylation defect | MONDO_0044655 | |
| hereditary spastic paraplegia 43 | MONDO_0014024 | [Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.] |
| congenital muscular dystrophy with intellectual disability and severe epilepsy | MONDO_0014023 | |
| disorder of multiple glycosylation | MONDO_0017749 | |
| familial episodic pain syndrome with predominantly upper body involvement | MONDO_0014021 |