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Elevated urinary 3-hydroxypentanoic acid level
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HP_6000604 |
[The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Prominent palmar flexion creases
|
HP_0006157 |
|
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Elevated urinary 2-methyl-3-hydroxybutyric acid level
|
HP_6000603 |
[The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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obsolete Finger joint hyperextensibility
|
HP_0006158 |
|
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Elevated urinary D-glyceric acid level
|
HP_6000606 |
[The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Elevated urinary 7-hydroxyoctanoic acid level
|
HP_6000605 |
[The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Ulnar deviation of thumb
|
HP_0006156 |
[Bending or curvature of a thumb towards the ulnar side (towards the ring finger).] |
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Elevated urinary 3,4-Dihydroxybutyric acid level
|
HP_6000608 |
[The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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obsolete Disharmonious carpal bone
|
HP_0006153 |
|
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Elevated urinary 3-hydroxyisobutyric acid level
|
HP_6000607 |
[The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Elevated urinary 3-hydroxyadipic acid level
|
HP_6000609 |
[The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Proximal symphalangism
|
HP_0100264 |
|
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Irregular metacarpals
|
HP_0006160 |
[Irregular morphology of one or more metacarpal bones.] |
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Short metacarpals with rounded proximal ends
|
HP_0006161 |
|
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cardiac muscle cell
|
CL_0000746 |
[Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei.] |
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Enamel pearls
|
HP_0033776 |
[Small nodules of enamel on the root of a tooth.] |
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retina horizontal cell
|
CL_0000745 |
[A neuron that laterally connects other neurons in the inner nuclear layer of the retina.] |
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Impaired renal tubular reabsorption of uric acid
|
HP_0033774 |
[Decreased renal tubular reabsorption of uric acid.] |
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Cutaneous hamartoma
|
HP_0031111 |
[A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.] |
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Decreased RV/TLC ratio
|
HP_0033773 |
[An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.] |