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Blepharophimosis
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HP_0000581 |
[A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.] |
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Nyctalopia
|
HP_0000662 |
[Inability to see well at night or in poor light.] |
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Abnormal inflammatory response
|
HP_0012647 |
[Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.] |
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Decreased inflammatory response
|
HP_0012648 |
[An abnormal reduction in the inflammatory response to injury or infection.] |
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Retractile testis
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HP_0012646 |
[A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.] |
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Decreased intracranial pressure
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HP_0012641 |
[A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.] |
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psoriasiform dermatitis
|
MPATH_675 |
|
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Enlarged peripheral nerve
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HP_0012645 |
[Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.] |
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Increased caudate lactate level
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HP_0012644 |
[An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.] |
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Foveal hypopigmentation
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HP_0012643 |
[Decreased amount of pigmentation in the fovea.] |
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Abnormal foveal pigmentation
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HP_0030493 |
[Increased or decreased pigmentation in the fovea.] |
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Cerebellar agenesis
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HP_0012642 |
[Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.] |
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Aplasia/Hypoplasia of the cerebellum
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HP_0007360 |
|
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Phthisis bulbi
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HP_0000667 |
[Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.] |
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Hypodontia
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HP_0000668 |
[The absence of five or less teeth from the normal series by a failure to develop.] |
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Tooth agenesis
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HP_0009804 |
[The absence of one or more teeth from the normal series by a failure to develop] |
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Anodontia
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HP_0000674 |
[The absence of all teeth from the normal series by a failure to develop.] |
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Macrodontia of permanent maxillary central incisor
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HP_0000675 |
[Increased size of the maxillary central secondary incisor tooth.] |
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Incisor macrodontia
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HP_0011081 |
[Increased size of the incisor tooth.] |
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Abnormality of the incisor
|
HP_0000676 |
[An abnormality of the Incisor tooth.] |