All terms in HP
| Label | Id | Description |
|---|---|---|
| Scanning speech | HP_0002168 | |
| Low posterior hairline | HP_0002162 | [Hair on the neck extends more inferiorly than usual.] |
| Pterygium of nails | HP_0002165 | [Inward advance of skin over the nail plate.] |
| Hyperhomocystinemia | HP_0002160 | [An increased concentration of homocystine in the blood.] |
| Hyperlysinemia | HP_0002161 | [An increased concentration of lysine in the blood.] |
| Opisthotonus | HP_0002179 | |
| Hypoglycemic seizures | HP_0002173 | |
| Postural instability | HP_0002172 | [A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.] |
| Delayed CNS myelination | HP_0002188 | [Delayed myelination in the central nervous system.] |
| Excessive daytime sleepiness | HP_0002189 | |
| Neurofibrillary tangles | HP_0002185 | [Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.] |
| Intellectual disability, profound | HP_0002187 | [Profound mental retardation is defined as an intelligence quotient (IQ) below 20.] |
| Cerebral edema | HP_0002181 | [Abnormal accumulation of fluid in the brain.] |
| Phonophobia | HP_0002183 | [An abnormally heightened sensitivity to loud sounds.] |
| Choroid plexus cyst | HP_0002190 | [A cyst occurring within the choroid plexus within a cerebral ventricle.] |
| innate effector T cell | CL_0002127 | [A T cell with a receptor of limited diversity that is capable of immediate effector functions upon stimulation.] |
| Brittle scalp hair | HP_0004779 | [Fragile, easily breakable scalp hair.] |
| Restrictive deficit on pulmonary function testing | HP_0002111 | [FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent.] |
| Restrictive ventilatory defect | HP_0002091 | [A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.] |
| Bronchiectasis | HP_0002110 | [Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.] |