All terms in HP

Label Id Description
Repeated focal motor seizures HP_0032665 [A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.]
Nocturnal lagophthalmos HP_0030002 [The inability to close the eyelids during sleep.]
Paralytic lagophthalmos HP_0030003 [A type of lagophthalmos that occurs in association with facial nerve palsy.]
Adversive status epilepticus HP_0032664 [A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.]
EMG: repetitive nerve stimulation abnormality HP_0030000 [Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.]
EC 4.3.* (C-N lyase) inhibitor CHEBI_76713 [A lyase inhibitor which inhibits the action of a C-N lyase (EC 4.3.*.*).]
Focal-onset seizure evolving into bilateral convulsive status epilepticus HP_0032662 [A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.]
Convulsive status epilepticus HP_0032660 [A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.]
Generalized convulsive status epilepticus HP_0032661 [A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.]
Non-convulsive status epilepticus with coma HP_0032659 [A type of status epilepticus without prominent motor symptoms and in the presence of coma.]
Status epilepticus without prominent motor symptoms HP_0031475 [There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.]
Status epilepticus HP_0002133 [Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.]
Elevated circulating lyso-globotriaosylsphingosine concentration HP_0032657 [An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.]
Abnormal circulating lipid concentration HP_0003119 [Any deviation from the normal concentration of a lipid in the blood circulation.]
Arthralgia/arthritis HP_0005059
Febrile status epilepticus HP_0032656 [A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.]
Complex febrile seizure HP_0011172 [A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.]
Decreased adipose tissue tocopherol level HP_0032655 [A reduced concentration of tocopherol in fat tissue.]
Metaphyseal spurs HP_0005054 [Bony outgrowths that extend laterally from the margin of the metaphysis.]
Limited elbow flexion/extension HP_0005060