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Partial absence of toe
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HP_0011305 |
[The absence of a phalangeal segment of a toe or hallux.] |
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Slender toe
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HP_0011308 |
[Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.] |
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Tapered toe
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HP_0011309 |
[The gradual reduction in girth of the toe from proximal to distal.] |
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Long palm
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HP_0011302 |
[For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.] |
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Convex contour of sole
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HP_0011303 |
[The contour of the foot in lateral profile has a convex shape.] |
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Broad fingertip
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HP_0011300 |
[Increased width of the distal segment of a finger.] |
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Absent foot
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HP_0011301 |
[The total absence of the foot, with no bony elements distal to the tibia or fibula.] |
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Hyperammonemia
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HP_0001987 |
[An increased concentration of ammonia in the blood.] |
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Fetal akinesia sequence
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HP_0001989 |
[Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).] |
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Renal Fanconi syndrome
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HP_0001994 |
[An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.] |
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Chronic metabolic acidosis
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HP_0001996 |
[Longstanding metabolic acidosis.] |
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Gout
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HP_0001997 |
[Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.] |
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Right unicoronal synostosis
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HP_0011317 |
[Unicoronal synostosis affecting only the right coronal suture.] |
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Unicoronal synostosis
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HP_0011315 |
[Synostosis affecting only one of the coronal sutures.] |
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Bicoronal synostosis
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HP_0011318 |
[Synostosis affecting the right and the left coronal suture.] |
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Coronal craniosynostosis
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HP_0004440 |
[Premature closure of the coronal suture of skull.] |
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Left unicoronal synostosis
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HP_0011316 |
[Synostosis affecting only the left coronal suture.] |
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Bilambdoid synostosis
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HP_0011319 |
[Premature synostosis of both lambdoid sutures.] |
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Lambdoidal craniosynostosis
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HP_0004443 |
[A kind of craniosynostosis affecting the lambdoidal suture.] |
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cell adhesion molecule CEACAM8 proteolytic cleavage product
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PR_000018406 |
[A cell adhesion molecule CEACAM8 that has been processed by proteolytic cleavage.] |