Terminology Service for NFDI4Health
All terms in MESH
| Label | Id | Description |
|---|---|---|
| SLV 330 | C551035 | |
| GEA 3268 | C105011 | |
| DYNC1H1 protein, zebrafish | C551036 | |
| Malformations of Cortical Development | D054220 | [Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.] |
| Nervous System Malformations | D009421 | [Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.] |
| GEA 5145 | C105012 | |
| MalX protein, E coli | C551037 | |
| Classical Lissencephalies and Subcortical Band Heterotopias | D054221 | [Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)] |
| angoletin | C105002 | |
| HDAC6 protein, human | C433811 | |
| Contractures, Congenital, Torticollis, and Malignant Hyperthermia | C565679 | |
| licodione | C105003 | |
| POLR2M protein, human | C433812 | |
| licodione 2'-O-methyltransferase | C105004 | |
| 4-benzyloxy-3,5-dimethoxy-N-((1-dimethylaminocyclopentyl)methyl)benzamide | C433813 | |
| 21'-didehydrodeacetyllanatoside C | C105005 | |
| 7-hydroxy-N-(1-((4-(3-hydroxyphenyl)-3,4-dimethyl-1-piperidinyl)methyl)-2-methylpropyl)-1,2,3,4-tetrahydro-3-isoquinolinecarboxamide | C433814 | |
| mimusin | C105006 | |
| poly(acrylic acid)-poly(vinyl alcohol-vinyl acetate) | C105007 | |
| 4-(2-hydroxyethylpyrimidin-1-yl)piperazine-1-sulfonic acid dimethylamide | C433816 |