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EC 6.4.* (C-C bond-forming ligase) inhibitor
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CHEBI_75604 |
[A ligase inhibitor that interferes with the action of a C-C bond-forming ligase (EC 6.4.*.*).] |
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Focal impaired awareness emotional seizure with crying
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HP_0032751 |
[Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.] |
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EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor
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CHEBI_76823 |
[An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*).] |
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EC 6.3.* (C-N bond-forming ligase) inhibitor
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CHEBI_75600 |
[A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*).] |
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Focal impaired awareness emotional seizure with laughing
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HP_0032750 |
[Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.] |
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Decreased CSF threonine concentration
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HP_0500213 |
[Abnormally decreased levels of threonine in cerebrospinal fluid.] |
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Abnormal CSF phenylalanine concentration
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HP_0500215 |
[Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.] |
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Impaired ristocetin cofactor assay activity
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HP_0030129 |
[Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.] |
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kidney blood vessel cell
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CL_1000854 |
[A blood vessel cell that is part of a kidney.] |
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Focal aware behavior arrest seizure
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HP_0032789 |
[A focal behavior arrest seizure characterized by retained awareness throughout the seizure.] |
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Focal behavior arrest seizure
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HP_0011173 |
[A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.] |
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Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole
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HP_0032788 |
[A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.] |
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Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole
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HP_0032773 |
[A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.] |
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Sacralization of the fifth lumbar vertebra
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HP_0030125 |
[A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.] |
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Elevated right atrial pressure
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HP_0005168 |
[An abnormal increase in magnitude of the pressure in the right atrium.] |
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Abnormal cardiac atrial physiology
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HP_0025443 |
[An abnormality of the function of the cardiac atria.] |
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Shortened PR interval
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HP_0005165 |
[Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.] |
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Dysplastic pulmonary valve
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HP_0005164 |
[A congenital malformation of the pulmonary valve characterized by leaflet deformation.] |
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Abnormal cardiac ventricular function
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HP_0030872 |
[An abnormality of the cardiac ventricular function.] |
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Increased CSF tyrosine concentration
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HP_0500220 |
[Abnormally increased levels of tyrosine in cerebrospinal fluid.] |