Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | MONDO_0018996 | [A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.] |
| spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | MONDO_0020771 | |
| familial dilated cardiomyopathy | MONDO_0016333 | [A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.] |
| non-familial hypertrophic cardiomyopathy | MONDO_0016330 | [An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.] |
| hypertrophic cardiomyopathy | EFO_0000538 | [A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)., A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.] |
| carcinoma of supraglottis | MONDO_0004357 | [A carcinoma of the larynx that arises from the supraglottic area.] |
| supraglottis cancer | MONDO_0001724 | [A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.] |
| delusional disorder | MONDO_0004359 | [A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).] |
| ganglioneuroma | EFO_0000500 | [A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.] |
| sympathetic nervous system disorder | MONDO_0044993 | [A disease or disorder that involves the sympathetic nervous system.] |
| sympathetic nervous system | UBERON_0000013 | [The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO].] |
| follicular thyroid carcinoma | EFO_0000501 | [A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.] |
| differentiated thyroid carcinoma | EFO_1002017 | [Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.] |
| ganglioneuroblastoma | EFO_0000502 | [A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.] |
| obsolete_hematological neoplasm | EFO_0000525 | |
| obsolete_hemopoietic progenitor cell | EFO_0000526 | [A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system.] |
| obsolete_hereditary spastic paraplegia | EFO_0000529 | [A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)] |
| hydrocephalus-obesity-hypogonadism syndrome | MONDO_0016346 | [This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.] |
| brassinolide | CHEBI_28277 | [A brassinosteroid that has formula C28H48O6., A 2alpha-hydroxy steroid that has formula C28H48O6.] |
| congenital hydrocephalus | MONDO_0016349 | [Hydrocephalus that is present at birth.] |