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Patchy sclerosis of 2nd finger phalanx
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HP_0009551 |
[Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.] |
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Reduced bone-marrow megakaryocyte size
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HP_0034541 |
[Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.] |
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Elevated circulating phytanic acid concentration
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HP_0010571 |
[An abnormal elevation of phytanic acid.] |
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Abnormal circulating phytanic acid concentration
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HP_0010965 |
[Any deviation from the normal concentration of phytanic acid in the blood circulation.] |
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Symphalangism affecting the proximal phalanx of the 2nd finger
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HP_0009586 |
[Fusion of the proximal phalanx of the 2nd finger with another bone.] |
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Symphalangism of the 2nd finger
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HP_0009545 |
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Hairshafts with longitudinal grooves
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HP_0034542 |
[Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.] |
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Triangular shaped proximal phalanx of the 2nd finger
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HP_0009587 |
[Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.] |
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Triangular shaped phalanges of the 2nd finger
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HP_0009546 |
[Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.] |
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Central nervous system cyst
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HP_0030724 |
[A fluid-filled sac (cyst) located within the central nervous system.] |
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Mycobacterium bacteremia
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HP_0034543 |
[Presence of viable mycobacteria in the blood.] |
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Bacteremia
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HP_0031864 |
[Presence of viable bacteria in the blood.] |
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Neoplasm of the inner ear
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HP_0040096 |
[A tumor (abnormal growth of tissue) of the inner ear.] |
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Decreased delta-aminolevulinate dehydratase activity
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HP_0034544 |
[Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.] |
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Bilateral vestibular schwannoma
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HP_0009589 |
[A bilateral vestibular schwannoma (acoustic neurinoma).] |
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Abnormality of the epiphysis of the femoral head
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HP_0010574 |
[Any abnormality of the proximal epiphysis of the femur.] |
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Abnormal femoral head morphology
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HP_0003368 |
[An abnormality of the femoral head.] |
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Abnormal femoral epiphysis morphology
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HP_0006499 |
[An anomaly of a growth plate of a femur.] |
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Elevated circulating pancreatic secretory trypsin inhibitor activity
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HP_0034545 |
[Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.] |
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Dysplasia of the femoral head
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HP_0010575 |
[The presence of developmental dysplasia of the femoral head.] |