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Proximally placed lunate
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HP_0004250 |
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Proximally placed carpal bones
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HP_0004239 |
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Absent Birbeck granules in Langerhans cells
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HP_0031872 |
[Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.] |
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Abnormal Langerhans cell morphology
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HP_0031871 |
[Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.] |
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Early chronotype
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HP_0031873 |
[A tendency towards rising very early in the morning and going to bed early in the evening.] |
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Phosphohydroxylysinuria
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HP_0031870 |
[An elevated concentration of phosphohydroxylysine in the urine.] |
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Neck hypertonia
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HP_0031867 |
[Increased passive stiffness or tightness of the neck musculature.] |
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Optic ataxia
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HP_0031868 |
[Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.] |
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Narrow small joints of the hand
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HP_0004267 |
|
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Clasp-knife sign
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HP_0031866 |
[Clasp-knife phenomenon refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be stretched. This phenomenon has been likened to opening a clasp knife.] |
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Subluxation of the small joints of the hand
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HP_0004269 |
[A partial dislocation of some or all of the small joints of the hand.] |
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Narrow carpal joint spaces
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HP_0004264 |
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Large capitate bone
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HP_0004263 |
|
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Large carpal bones
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HP_0004237 |
[Increased size of carpal bones.] |
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Fractured lateral malleolus of fibula
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HP_0041210 |
[A partial or complete breakage of the lateral malleolus of fibula.] |
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Fractured proximal phalanx of digit 2
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HP_0041211 |
[A partial or complete breakage of the proximal phalanx of digit 2.] |
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Fractured proximal phalanx of digit 3
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HP_0041212 |
[A partial or complete breakage of the proximal phalanx of digit 3.] |
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Large hamate bone
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HP_0004260 |
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Wide hamate bone
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HP_0004261 |
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Broad carpal bones
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HP_0004242 |
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