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Total intestinal aganglionosis
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HP_0005241 |
[A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.] |
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Purkinje layer interneuron
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CL_4072102 |
[A type of GABAergic interneuron residing in the Purkinje cell layer of the cerebellar cortex.] |
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cerebellar inhibitory GABAergic interneuron
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CL_4023057 |
[Any GABAergic interneuron that has its soma located in some cerebellar cortex.] |
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Typical absence status epilepticus
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HP_0032863 |
[Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.] |
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Fatiguable weakness of proximal limb muscles
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HP_0030200 |
[A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.] |
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Fatigable weakness of skeletal muscles
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HP_0030197 |
[A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.] |
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4-hydroxyphenylpyruvic acid
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CHEBI_15999 |
[A 2-oxo monocarboxylic acid that is pyruvic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group.] |
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Abnormal peripheral nervous system synaptic transmission
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HP_0030191 |
[An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.] |
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Status epilepticus with ictal paresis
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HP_0032862 |
[A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.] |
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D-asparagine zwitterion
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CHEBI_74337 |
[A D-alpha-amino acid zwitterion that is D-asparagine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.] |
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Focal non-convulsive status epilepticus with impairment of consciousness
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HP_0032861 |
[Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.] |
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Focal impaired awareness motor seizure with paresis/paralysis
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HP_0032859 |
[A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.] |
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Focal motor seizure with paresis/paralysis
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HP_0032721 |
[A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.] |
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Focal impaired awareness motor seizure with negative myoclonus
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HP_0032858 |
[A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.] |
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Focal aware motor seizure with negative myoclonus
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HP_0032857 |
[A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.] |
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Abnormal facility in opposing the shoulders
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HP_0005259 |
[Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.] |
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Focal aware bilateral motor seizure
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HP_0032856 |
[A type of focal bilateral motor seizure during which awareness is fully retained throughout.] |
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Focal bilateral motor seizure
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HP_0032715 |
[A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.] |
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antifungal drug
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CHEBI_86327 |
[Any antifungal agent used to prevent or treat fungal infections in humans or animals.] |
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antifungal agent
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CHEBI_35718 |
[An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce.] |