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Enlarged epiphysis of the middle phalanx of the 4th toe
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HP_0100183 |
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Fragmentation of the epiphysis of the middle phalanx of the 4th toe
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HP_0100184 |
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Irregular epiphysis of the middle phalanx of the 4th toe
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HP_0100185 |
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Ivory epiphysis of the middle phalanx of the 4th toe
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HP_0100186 |
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Pseudoepiphysis of the middle phalanx of the 4th toe
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HP_0100187 |
[A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.] |
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Low neutrophil alkaline phosphatase
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HP_0041044 |
[An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.] |
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Small epiphysis of the middle phalanx of the 4th toe
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HP_0100188 |
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Increased neutrophil mitochondria
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HP_0041045 |
[An increased number of mitochondria detected in neutrophils.] |
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Stippling of the epiphysis of the middle phalanx of the 4th toe
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HP_0100189 |
[The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.] |
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Increased neutrophil ribosomes
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HP_0041046 |
[An increased number of ribosomes detected in neutrophils.] |
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Bladder outlet obstruction
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HP_0041047 |
[A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).] |
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phytane
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CHEBI_48937 |
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Absent neutrophil lactoferrin
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HP_0041042 |
[The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.] |
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Neutrophil nuclear clefts
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HP_0041043 |
[An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.] |
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Decreased expression of GPI-anchored proteins on the cell surface
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HP_0041048 |
[A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.] |
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Starch intolerance
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HP_0041049 |
[An inability to digest starch.] |
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Triangular epiphysis of the middle phalanx of the 4th toe
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HP_0100190 |
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Absent epiphysis of the proximal phalanx of the 4th toe
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HP_0100191 |
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Bracket epiphysis of the proximal phalanx of the 4th toe
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HP_0100192 |
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Cone-shaped epiphysis of the proximal phalanx of the 4th toe
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HP_0100193 |
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