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Thickened cortex of the radius
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HP_6000811 |
[Abnormally increased thickness of the cortical layer of the radius.] |
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Colon perforation
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HP_0031369 |
[A hole (perforation) in the wall of the colon.] |
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Thickened femoral cortex
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HP_6000810 |
[Abnormally increased thicknes of the cortical layer of the femur.] |
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Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio
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HP_6000813 |
[Aspartate aminotransferase to alanine aminotransferase ratio increased greater than 1.5.] |
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Thickened cortex of the ulna
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HP_6000812 |
[Abnormally increased thickness of the cortical layer of the ulna.] |
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Amyloid goiter
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HP_6000815 |
[Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter.] |
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Temporomandibular joint dislocation
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HP_6000814 |
[The lower jawbone (mandible) pulls away from the temporomandibular joints (TMJ). It is characterized by pain, clicking and functional restriction.] |
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Melorheostosis
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HP_6000817 |
[Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax.] |
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Prominent lesser trochanter
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HP_6000816 |
[Abnormally large lesser trochanter.] |
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Elevated circulating beta-glucuronidase activity
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HP_6000819 |
[The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal.] |
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(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity
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GO_0003857 |
[Catalysis of the reaction: a (3S)-3-hydroxyacyl-CoA + NAD+ = a 3-oxoacyl-CoA + NADH + H+.] |
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Thickened tibial cortex
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HP_6000809 |
[Abnormally increased thicknes of the cortical layer of the tibia.] |
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obsolete Sex-limited autosomal recessive inheritance
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HP_0031362 |
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Palpable purpura
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HP_0031363 |
[A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).] |
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Yellow skin plaque
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HP_0031360 |
[A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.] |
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Zebra bodies
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HP_0031361 |
[Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.] |
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amide transport
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GO_0042886 |
[The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.] |
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Tzanck smear with multinucleated giant cells
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HP_6000800 |
[Tzanck smear demonstrates multinucleated giant cells, a sign that is suggestive for herpetic infections. Such smears are taken from skin lesions and display multinucleated cells with ground glass nuclei, nuclear moulding, and margination of nuclear chromatin typical of herpes simplex and varicella infection.] |
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Positive bloodstream Tropheryma whipplei nucleic acid test
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HP_6000802 |
[Detection of nucleic acid of Tropheryma whipplei in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.] |
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Positive Mazzotti test
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HP_6000801 |
[Locally applied 1.6 percent diethylcarbamazine citrate in Nivea lotion can be used as a diagnostic test for onchocerciasis. Papular reactions are considered as positive test results.] |