Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| childhood epilepsy with centrotemporal spikes | MONDO_0007295 | [A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.] |
| macrophage activation syndrome | EFO_1001806 | [A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS., A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.] |
| secondary hemophagocytic lymphohistiocytosis | MONDO_0015542 | [Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.] |
| obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | Orphanet_284282 | |
| lobomycosis | EFO_1001805 | [A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.] |
| Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | Orphanet_369970 | |
| leukocyte adhesion deficiency 1 | MONDO_0007293 | [Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.] |
| leukocyte adhesion deficiency | MONDO_0017570 | [Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.] |
| Livedo reticularis | EFO_1001804 | [A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.] |
| cataract 5 multiple types | MONDO_0007290 | [Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.] |
| lingual thyroid | EFO_1001803 | [A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM.] |
| obsolete familial cerebral cavernous malformation | MONDO_0007291 | |
| isolated noncompaction of the ventricular myocardium | EFO_1001802 | [Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.] |
| intracranial subdural hematoma | EFO_1001801 | [Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE.] |
| intervertebral disk | UBERON_0001066 | [A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core.] |
| Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | Orphanet_369979 | |
| obsolete other genetic epidermal disease | MONDO_0019275 | |
| epidermal appendage anomaly | MONDO_0019277 | |
| Marchiafava-Bignami Disease | EFO_1001809 | [A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well., Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.] |
| Adult-onset autosomal recessive cerebellar ataxia | Orphanet_284289 |