All terms in HP
| Label | Id | Description |
|---|---|---|
| Impaired smooth pursuit | HP_0007772 | [An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.] |
| Focal T2 hyperintense basal ganglia lesion | HP_0007183 | [A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.] |
| Peripheral hypomyelination | HP_0007182 | [Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.] |
| Abnormal peripheral myelination | HP_0003130 | [An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.] |
| Interosseus muscle atrophy | HP_0007181 | [Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.] |
| Distal amyotrophy | HP_0003693 | [Muscular atrophy affecting muscles in the distal portions of the extremities.] |
| Anticardiolipin IgM antibody positivity | HP_0020137 | [The presence of circulating IgM autoantibodies to cardiolipin.] |
| History of recent animal bite | HP_0020138 | [Medical history of a recent bite injury due to an animal.] |
| Past medical history | HP_0032443 | [In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.] |
| Semidominant mode of inheritance | HP_0032113 | [A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected.] |
| Abnormal Pelli Robson contrast sensitivity chart test | HP_0032112 | [An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.] |
| Abnormal contrast sensitivity | HP_0032036 | [An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.] |
| Abnormal Vistech contrast sensitivity test | HP_0032111 | [An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.] |
| organelle fission | GO_0048285 | [The creation of two or more organelles by division of one organelle.] |
| Severely reduced contrast sensitivity | HP_0032110 | [A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.] |
| Cilioretinal artery occlusion | HP_0020163 | [Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.] |
| Retinal arterial occlusion | HP_0025326 | [Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.] |
| Ophthalmic artery occlusion | HP_0020164 | [A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.] |
| Branch retinal vein occlusion | HP_0020165 | [Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.] |
| Central retinal vein occlusion | HP_0020166 | [Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.] |