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Congenital abnormal hair pattern
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HP_0011361 |
[A congenital abnormality of the distribution of hair growth.] |
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Bradypnea
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HP_0046507 |
[Bradypnea is referring to breathing that is abnormally slow.] |
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Opsoclonus
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HP_0010543 |
[Bursts of large-amplitude multidirectional saccades without intersaccadic interval] |
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Saccadic oscillation
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HP_0032104 |
[An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.] |
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Preauricular hair displacement
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HP_0009554 |
[An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.] |
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Pain in head and neck region
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HP_0046506 |
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Hypoplasia of the pharynx
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HP_0009555 |
[Underdevelopment of the pharynx.] |
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Hand pain
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HP_0046505 |
[An unpleasant sensation characterized by physical discomfort localized to the hand.] |
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Absent tibia
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HP_0009556 |
[Absence of the tibia.] |
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Aplasia/Hypoplasia of the tibia
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HP_0005772 |
[Absence or underdevelopment of the tibia.] |
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Aplasia involving bones of the lower limbs
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HP_0009817 |
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Cutis gyrata of scalp
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HP_0010541 |
[The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.] |
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Decreased libido
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HP_0046504 |
[Decreased sexual desire.] |
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Vestibular nystagmus
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HP_0010542 |
[Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.] |
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Abnormal cranial nerve physiology
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HP_0031910 |
[A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.] |
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Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
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HP_0009557 |
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Broad distal phalanx of the 2nd finger
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HP_0009558 |
[Increased width of the distal phalanx of the 2nd finger.] |
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Bullet-shaped distal phalanx of the 2nd finger
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HP_0009559 |
[Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.] |
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Adamantinoma
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HP_0034525 |
[A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns.] |
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Abnormality of the clivus
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HP_0010558 |
[An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.] |