Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | MONDO_0030037 | |
| neurodevelopmental disorder and language delay with or without structural brain abnormalities | MONDO_0032697 | |
| leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | MONDO_0030036 | |
| intermittent maple syrup urine disease | MONDO_0017053 | [Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.] |
| lissencephaly 10 | MONDO_0030031 | |
| lysophosphatidylethanolamine 18:2 | CHEBI_91296 | [A lysophosphatidylethanolamine in which the acyl group (position not specified) contains 18 carbons and 2 double bonds.] |
| Nizon-Isidor syndrome | MONDO_0030030 | |
| thiamine-responsive maple syrup urine disease | MONDO_0017054 | [Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.] |
| seizures, early-onset, with neurodegeneration and brain calcifications | MONDO_0030033 | |
| DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | MONDO_0017056 | |
| DYRK1A-related intellectual disability syndrome | MONDO_0013578 | [An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.] |
| Bromus secalinus | NCBITaxon_4502 | |
| intraocular medulloepithelioma | MONDO_0017050 | [Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.] |
| classic maple syrup urine disease | MONDO_0017051 | [Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.] |
| intermediate maple syrup urine disease | MONDO_0017052 | [Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.] |
| neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | MONDO_0030028 | |
| tremor, hereditary essential, 6 | MONDO_0030027 | |
| 1-naphthylacetic acid | CHEBI_32918 | [A naphthylacetic acid that has formula C12H10O2.] |
| skeletal dysplasia, mild, with joint laxity and advanced bone age | MONDO_0030029 | |
| autoimmune/inflammatory optic neuropathy | MONDO_0044685 |