Terminology Service for NFDI4Health
All terms in HP
| Label | Id | Description |
|---|---|---|
| Hypoplasia of the pyramidal tract | HP_0007348 | |
| Aplasia/Hypoplasia of the pyramidal tract | HP_0007363 | |
| Lambda Bence Jones proteinuria | HP_0032303 | [The presence of free monoclonal lambda immunoglobulin light chains in the urine.] |
| Bence Jones Proteinuria | HP_0030156 | [The presence of free monoclonal immunoglobulin light chains in the urine.] |
| Increased susceptibility to spontaneous sister chromatid exchange | HP_0010998 | [An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.] |
| Abnormality of chromosome stability | HP_0003220 | [A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.] |
| Subcortical white matter calcifications | HP_0007346 | |
| Aplasia of the optic tract | HP_0010999 | |
| Atrophy/Degeneration involving the spinal cord | HP_0007344 | |
| Chromosomal breakage induced by ionizing radiation | HP_0010997 | [Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.] |
| Chromosome breakage | HP_0040012 | [Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.] |
| Abnormal morphology of the limbic system | HP_0007343 | [Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].] |
| Diffuse swelling of cerebral white matter | HP_0007341 | |
| integral component of synaptic membrane | GO_0099699 | [The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.] |
| intrinsic component of synaptic membrane | GO_0099240 | [The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.] |
| integral component of plasma membrane | GO_0005887 | [The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.] |
| negative regulation of blood vessel morphogenesis | GO_2000181 | [Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis.] |
| Abnormality of the common coagulation pathway | HP_0010990 | [An abnormality of blood coagulation, common pathway.] |
| glucopyranose | CHEBI_37661 | |
| glucose | CHEBI_17234 | [An aldohexose used as a source of energy and metabolic intermediate.] |