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Abnormal metencephalon morphology
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HP_0011283 |
[An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.] |
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Synovial granuloma
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HP_0034647 |
[An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).] |
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Enuresis nocturna
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HP_0010677 |
[Enuresis occurring during sleeping hours.] |
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Elevated urine fumaric acid level
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HP_0034648 |
[The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Enuresis diurna
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HP_0010678 |
[Enuresis occurring during waking hours of the day.] |
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Elevated urine N-acetylaspartic acid level
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HP_0034649 |
[The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.] |
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Increased urinary non-proteinogenic amino acid level
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HP_0033098 |
[An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.] |
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Pseudobulbar paralysis
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HP_0007024 |
[Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.] |
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Dysphagia
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HP_0002015 |
[Difficulty in swallowing.] |
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Antenatal intracerebral hemorrhage
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HP_0007023 |
[Cerebral hemorrhage that occurs before birth.] |
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Pain insensitivity
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HP_0007021 |
[Inability to perceive painful stimuli.] |
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Impaired pain sensation
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HP_0007328 |
[Reduced ability to perceive painful stimuli.] |
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Progressive spastic paraplegia
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HP_0007020 |
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Spastic paraplegia
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HP_0001258 |
[Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.] |
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Pseudoepiphysis of the distal phalanx of the thumb
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HP_0009682 |
[A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.] |
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Small epiphysis of the distal phalanx of the thumb
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HP_0009683 |
[Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.] |
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Abnormality of the third metatarsal bone
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HP_0010672 |
[An abnormality of the third metatarsal bone.] |
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Skin infectious agent
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HP_0034640 |
[The presence of an infectious agent in the skin.] |
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Stippling of the epiphysis of the distal phalanx of the thumb
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HP_0009684 |
[The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.] |
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Dermal microfilaria
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HP_0034641 |
[Presence of filariae in the skin.] |