Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Syncope | HP_0001279 | [Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.] |
| intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | MONDO_0032687 | |
| upper thoracic spina bifida aperta | MONDO_0017068 | |
| spina bifida aperta | MONDO_0017062 | |
| neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | MONDO_0030024 | |
| Cerebellar atrophy | HP_0001272 | [Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.] |
| polymicrogyria with or without vascular-type ehlers-danlos syndrome | MONDO_0032688 | |
| isolated spina bifida | MONDO_0019351 | [A spina bifida (disease) that is not part of a larger syndrome.] |
| Agenesis of corpus callosum | HP_0001274 | [Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.] |
| neurodevelopmental disorder with hypotonia, microcephaly, and seizures | MONDO_0030025 | |
| thoracolumbosacral spina bifida aperta | MONDO_0017064 | |
| combined oxidative phosphorylation deficiency 44 | MONDO_0030020 | |
| intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | MONDO_0032684 | |
| lumbosacral spina bifida aperta | MONDO_0017065 | |
| encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | MONDO_0032681 | |
| cervical spina bifida aperta | MONDO_0017066 | |
| cervicothoracic spina bifida aperta | MONDO_0017067 | |
| open iniencephaly | MONDO_0017060 | |
| closed iniencephaly | MONDO_0017061 | |
| total spina bifida aperta | MONDO_0017063 |