All terms in HP
Label | Id | Description |
---|---|---|
Morphological abnormality of the central nervous system | HP_0002011 | [A structural abnormality of the central nervous system.] |
Focal clonic seizures | HP_0002266 | |
Focal motor seizure | HP_0011153 | [Focal seizures involving musculature in any form.] |
Large fleshy ears | HP_0002265 | |
Macrotia | HP_0000400 | [Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).] |
Paroxysmal dystonia | HP_0002268 | [A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.] |
Dystonia | HP_0001332 | [An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.] |
Exaggerated startle response | HP_0002267 | [An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.] |
Abnormality of extrapyramidal motor function | HP_0002071 | [A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).] |
signaling receptor binding | GO_0005102 | [Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.] |
protein binding | GO_0005515 | [Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).] |
Exaggerated cupid's bow | HP_0002263 | [More pronounced paramedian peaks and median notch of the Cupid's bow.] |
Abnormality of upper lip vermillion | HP_0011339 | [An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.] |
regulation of isoprenoid metabolic process | GO_0019747 | [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids.] |
regulation of cellular metabolic process | GO_0031323 | [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.] |
regulation of lipid metabolic process | GO_0019216 | [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids.] |
isoprenoid metabolic process | GO_0006720 | [The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues.] |
secondary metabolic process | GO_0019748 | [The chemical reactions and pathways resulting in many of the chemical changes of compounds that are not necessarily required for growth and maintenance of cells, and are often unique to a taxon. In multicellular organisms secondary metabolism is generally carried out in specific cell types, and may be useful for the organism as a whole. In unicellular organisms, secondary metabolism is often used for the production of antibiotics or for the utilization and acquisition of unusual nutrients.] |
metabolic process | GO_0008152 | [The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation.] |
hypertrophic | PATO_0000584 | [An increased size quality inhering in a bearer by virtue of the bearer's exhibiting enlargement of a cell or constituent group of cells (for example, organ).] |