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Absent epiphysis of the 1st metacarpal
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HP_0010015 |
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Hypoplasia of latissimus dorsi muscle
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HP_0009026 |
[Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.] |
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Iron accumulation in substantia nigra
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HP_0012678 |
[An anomalous build up of iron (Fe) in the substantia nigra.] |
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Abnormal substantia nigra morphology
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HP_0045007 |
[A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.] |
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obsolete Iron accumulation in globus pallidus
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HP_0012677 |
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Foot dorsiflexor weakness
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HP_0009027 |
[Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.] |
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Limb muscle weakness
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HP_0003690 |
[Reduced strength and weakness of the muscles of the arms and legs.] |
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Bracket epiphysis of the 1st metacarpal
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HP_0010016 |
[An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.] |
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Bracket metacarpal epiphyses
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HP_0200050 |
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Copper accumulation in brain
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HP_0012676 |
[An anomalous build up of copper (Cu) in the brain.] |
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Abnormal tissue metabolite concentration
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HP_0032243 |
[Any deviation from the normal concentration of a metabolite in a tissue.] |
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Generalized weakness of limb muscles
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HP_0009028 |
[Generalized weakness of the muscles of the arms and legs.] |
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monocyclic heteroarene
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CHEBI_38179 |
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Orthostatic syncope
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HP_0012670 |
[Syncope following a quick change in position from lying down to standing.] |
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nitrogen molecular entity
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CHEBI_51143 |
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Bullet-shaped 1st metacarpal
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HP_0010028 |
[The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").] |
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Curved 1st metacarpal
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HP_0010029 |
[A deviation from the normal straight shape of the first metacarpal.] |
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obsolete Marked muscular hypertrophy
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HP_0009042 |
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Pseudoepiphysis of the 1st metacarpal
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HP_0010022 |
[The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.] |
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Decreased pineal volume
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HP_0012685 |
[An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.] |