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Vogt striae
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HP_6001180 |
[Vertical lines in the posterior stroma of the cornea, aligned with Descemet membrane. These lines temporarily disappear with pressure applied to the cornea. Vogt striae are a hallmark feature of keratoconus but have also been observed in healthy eyes. Rare cases of horizontal striae have been reported.] |
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Aplasia of the vestibule
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HP_0011377 |
[Complete absence of the vestibule of the inner ear.] |
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Hypoplasia of the vestibule of the inner ear
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HP_0011378 |
[Underdevelopment of the vestibule of the inner ear.] |
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Corneal epithelial edema
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HP_6001182 |
[A condition characterized by accumulation of fluid within the corneal epithelium, leading to swelling, blurred vision, and discomfort. It is often associated with increased intraocular pressure, endothelial dysfunction, or contact lens overuse. Clinical features may include a hazy cornea and microcystic changes visible on slit-lamp examination.] |
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Choroid thickening
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HP_6001181 |
[A condition characterized by an abnormal increase in the thickness of the choroid, which may be associated with various ocular or systemic conditions. Choroid thickening can be measured using imaging techniques such as optical coherence tomography (OCT).] |
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Filamentary keratitis
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HP_6001184 |
[A condition characterized by the formation of filaments composed of degenerated epithelial cells and mucus attached to the corneal surface. It is associated with symptoms such as pain, foreign body sensation, photophobia, and tearing. Filamentary keratitis is often linked to underlying conditions such as dry eye disease, post-surgical ocular surface disorders, or systemic diseases like Sjoegren syndrome.] |
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Retinal shunt vessels
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HP_6001183 |
[bnormal blood vessels in the retina that form as a response to vascular occlusion, serving as bypass channels to redirect blood flow around obstructed or damaged retinal vessels. Retinal shunt vessels are often associated with conditions like retinal vein occlusion or diabetic retinopathy and may appear as tortuous or dilated vessels on fundoscopic examination.] |
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Optic disc hemorrhage
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HP_6001186 |
[A condition characterized by bleeding at or near the optic disc, visible as a flame-shaped or splinter hemorrhage on fundoscopic examination.] |
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Recurrent viral skin infections
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HP_0011371 |
[Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.] |
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Elevated circulating glucosylsphingosine concentration
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HP_6001185 |
[Concentration of D-glucosylsphingosine in the blood circulation above the upper limit of normal.] |
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Aplasia of the inner ear
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HP_0011372 |
[Absence of the inner ear due to a developmental defect.] |
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Preauricular lymphadenopathy
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HP_6001188 |
[Enlargement of one or more lymph nodes located in front of the ear.] |
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Reduced circulating progranulin concentration
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HP_6001187 |
[The concentration of progranulin in the blood circulation is below the lower limit of normal.] |
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Positive CSF anti-measles antibody test
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HP_6001179 |
[The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of measles virus.] |
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Positive CSF infectious agent test
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HP_0430123 |
[Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive.] |
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Clavicular edema
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HP_6001178 |
[Swelling on the chest between the neck and the shoulder, above the clavicel (collar bone).] |
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positive regulation of chromosome condensation
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GO_1905821 |
[Any process that activates or increases the frequency, rate or extent of chromosome condensation.] |
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positive regulation of chromosome organization
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GO_2001252 |
[Any process that activates or increases the frequency, rate or extent of chromosome organization.] |
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Superior displacement of the humeral head
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HP_6001171 |
[An anterior posterior (AP) shoulder radiograph shows distance between the the proximal aspect of the humeral head and inferior aspect of the acromion of less than 7 mm.] |
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Limited shoulder internal rotation
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HP_6001170 |
[Difficulty rotating the lower part of the arm towards the body (tested with the elbow flexed and the elbow held next to the side of the body or shoulder 90 degrees abducted to the side) secondary to pain, weakness, or mechanical block.] |