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Central core regions in muscle fibers
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HP_0030230 |
[The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.] |
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Focal aware motor seizure with version
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HP_0032891 |
[A focal motor seizure with version characterized by retained awareness throughout the seizure.] |
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Focal motor seizure with version
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HP_0011175 |
[A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.] |
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Focal impaired awareness sensory seizure with somatosensory features
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HP_0032890 |
[A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.] |
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Aphasic status epilepticus
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HP_0032849 |
[Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.] |
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Focal aware cognitive seizure with neglect
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HP_0032848 |
[A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.] |
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S-shaped body
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UBERON_0004199 |
[The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron.] |
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Focal impaired awareness hemifacial clonic seizure
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HP_0032847 |
[Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.] |
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Focal impaired awareness clonic seizure
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HP_0032725 |
[A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.] |
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comma-shaped body
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UBERON_0004198 |
[The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron.] |
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Jejunoileal ulceration
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HP_0005229 |
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Focal motor seizure with negative myoclonus
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HP_0032846 |
[A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.] |
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Iridescent posterior subcapsular cataract
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HP_0007889 |
[A type of posterior subcapsular cataract characterized by an iridescent color.] |
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Posterior subcapsular cataract
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HP_0007787 |
[A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.] |
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Focal aware epileptic spasm
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HP_0032845 |
[A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.] |
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Focal-onset epileptic spasm
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HP_0032843 |
[A type of epileptic spasm of focal onset.] |
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Adenomatous colonic polyposis
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HP_0005227 |
[Presence of multiple adenomatous polyps in the colon.] |
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Neoplasm of the colon
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HP_0100273 |
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Focal impaired awareness epileptic spasm
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HP_0032844 |
[A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.] |
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Focal impaired awareness motor seizure
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HP_0032712 |
[A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.] |