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Joint swelling
|
HP_0001386 |
|
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Uveal ectropion
|
HP_0025358 |
[Presence of iris pigment epithelium on the anterior surface of the iris.] |
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obsolete Joint laxity
|
HP_0001388 |
|
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Polygonal renal calices
|
HP_0025359 |
[An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).] |
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Abnormal renal calyx morphology
|
HP_0011130 |
[Any abnormality of the morphology of the major calices or minor calices of the kidney.] |
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Typically de novo
|
HP_0025352 |
[Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.] |
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Giant conjunctival papillae
|
HP_0025350 |
[Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.] |
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obsolete Ligamentous laxity
|
HP_0001380 |
|
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Recurrent interdigital mycosis
|
HP_0025351 |
[A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.] |
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Abnormality of circulating beta-2-microglobulin level
|
HP_0025345 |
[A deviation from the normal concentration of beta-2-microglobulin in the blood.] |
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Increased circulating beta-2-microglobulin level
|
HP_0025346 |
[Elevated concentration of beta-2-microglobulin in the blood.] |
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Lupus anticoagulant
|
HP_0025343 |
[Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.] |
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Interlobular bile duct destruction
|
HP_0025344 |
[Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).] |
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Limbal edema
|
HP_0025349 |
[Swelling of the margin of the cornea overlapped by the sclera.] |
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Abnormal corneal limbus morphology
|
HP_0025348 |
[An anomaly of the margin of the cornea overlapped by the sclera.] |
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Lipid accumulation in hepatocytes
|
HP_0006561 |
|
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Decreased circulating beta-2-microglobulin level
|
HP_0025347 |
[Reduced concentration of beta-2-microglobulin in the blood.] |
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Hepatic failure
|
HP_0001399 |
|
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Corneal keratic precipitates
|
HP_0025341 |
[An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.] |
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Abnormal corneal endothelium morphology
|
HP_0011488 |
[Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.] |