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Downslanted palpebral fissures
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HP_0000494 |
[The palpebral fissure inclination is more than two standard deviations below the mean.] |
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Recurrent corneal erosions
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HP_0000495 |
[The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.] |
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Globe retraction and deviation on abduction
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HP_0000497 |
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Deeply set eye
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HP_0000490 |
[An eye that is more deeply recessed into the plane of the face than is typical.] |
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Keratitis
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HP_0000491 |
[Inflammation of the cornea.] |
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Abnormal corneal epithelium morphology
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HP_0011495 |
[Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.] |
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Decreased specific pneumococcal antibody level
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HP_0012476 |
[The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.] |
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Impaired antigen-specific response
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HP_0031404 |
[An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).] |
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Carotid artery occlusion
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HP_0012474 |
[Complete obstruction of a carotid artery.] |
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Tongue atrophy
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HP_0012473 |
[Wasting of the tongue.] |
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Temporomandibular joint crepitus
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HP_0012479 |
[Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.] |
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Abnormality of the temporomandibular joint
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HP_0010754 |
[An anomaly of the temporomandibular joint.] |
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Temporomandibular joint ankylosis
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HP_0012478 |
[Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.] |
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Vocal tremor
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HP_0012477 |
[A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.] |
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Setting-sun eye phenomenon
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HP_0012470 |
[An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.] |
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Cerebellopontine angle arachnoid cyst
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HP_0012487 |
[An arachnoid cyst located at the margin of the cerebellum and pons.] |
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Posterior fossa cyst
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HP_0007291 |
[A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.] |
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Myelitis
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HP_0012486 |
[Inflammation of the spinal cord.] |
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Abnormal surface-connected open canalicular system
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HP_0012485 |
[An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.] |
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Abnormal platelet granules
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HP_0011883 |
[An anomaly of alpha or dense granules or platelet lysosomes.] |