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Peroneal muscle atrophy
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HP_0009049 |
[Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).] |
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Short 2nd metacarpal
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HP_0010038 |
[Short second metacarpal bone because of developmental hypoplasia.] |
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Decreased dendritic spine number
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HP_0034005 |
[An abnormal reduction in the amount of spines on a given dendrite.] |
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Abnormal neuron branching
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HP_0500032 |
[Abnormality of the structure and branching of the dendrites of a neuron.] |
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Cerebellar gliosis
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HP_0012698 |
[Focal proliferation of glial cells in the cerebellum.] |
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Gliosis
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HP_0002171 |
[Gliosis is the focal proliferation of glial cells in the central nervous system.] |
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Aplasia of the 1st metacarpal
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HP_0010035 |
[Absent first metacarpal (long bone) of the hand.] |
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Partial absence of thumb
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HP_0009659 |
[The absence of a phalangeal segment of a thumb.] |
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Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio
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HP_0034006 |
[A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.] |
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Small basal ganglia
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HP_0012697 |
[Decreased size of the basal ganglia.] |
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Posterior atrophy of corpus callosum
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HP_0034007 |
[The presence of atrophy (wasting) of the posterior portion of the corpus callosum.] |
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Thin corpus callosum
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HP_0033725 |
[An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).] |
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Focal T2 hyperintense thalamic lesion
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HP_0012692 |
[A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.] |
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Osteolytic defects of the 1st metacarpal
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HP_0010030 |
[Dissolution or degeneration of bone tissue of the 1st metacarpal.] |
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Metacarpal osteolysis
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HP_0001504 |
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Focal T2 hypointense thalamic lesion
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HP_0012691 |
[A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.] |
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T2 hypointense thalamus
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HP_0012690 |
[A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.] |
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Scapular muscle atrophy
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HP_0009060 |
[Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.] |
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obsolete Infantile axial hypotonia
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HP_0009062 |
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Progressive distal muscle weakness
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HP_0009063 |
[Progressively reduced strength of the distal musculature.] |