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Impaired renal tubular reabsorption of magnesium
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HP_0033759 |
[Decreased renal tubular reabsorption of magnesium.] |
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Labial abscess
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HP_0033758 |
[A circumscribed area of pus or necrotic debris in the labia.] |
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Pancreatic steatosis
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HP_0033757 |
[Fat infiltration in the pancreas.] |
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Decreased left ventricular end-diastolic volume
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HP_0033756 |
[Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).] |
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Abnormal left ventricular end-diastolic volume
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HP_0033754 |
[Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).] |
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Increased left ventricular end-diastolic volume
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HP_0033755 |
[Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).] |
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Widened greater sciatic notch
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HP_0008798 |
[The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.] |
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Abnormality of hand joint mobility
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HP_0006256 |
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Bilateral postaxial polydactyly
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HP_0006136 |
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Early ossification of capital femoral epiphyses
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HP_0008797 |
[Developmental acceleration of ossification of the proximal epiphysis of the femur.] |
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Femoral retroversion
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HP_0008796 |
[An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).] |
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Dysplastic iliac wing
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HP_0008794 |
[A general term that describes a congenital defect in the iliac wing resulting from abnormal development.] |
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Reduced residual volume
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HP_0033753 |
[Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.] |
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4-methyl-2-oxopentanoic acid
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CHEBI_48430 |
[A 2-oxo monocarboxylic acid that is pentanoic acid (valeric acid) substituted with a keto group at C-2 and a methyl group at C-4. A metabolite that has been found to accumulate in maple syrup urine disease.] |
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Elevated functional residual capacity
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HP_0033751 |
[An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.] |
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Abnormal functional residual capacity
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HP_0033749 |
[A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.] |
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Reduced functional residual capacity
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HP_0033750 |
[An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.] |
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Dysharmonic accelerated bone age
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HP_0200001 |
[A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.] |
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Splayed epiphyses
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HP_0200003 |
[Flaring (widening) of the epiphysis.] |
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Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity
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HP_6000695 |
[Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.] |