| HPO |
HP:0002072 |
Chorea |
"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [HPO:probinson, PMID:20589866] |
— |
HP:0004305 |
| HPO |
HP:0002187 |
Intellectual disability, profound |
"Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson] |
Persons with profound mental retardation generally require constant care. |
HP:0001249 |
| HPO |
HP:0010819 |
Atonic seizure |
"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature." [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. |
HP:0020219 |
| HPO |
HP:0011097 |
Epileptic spasm |
"A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages" [HPO:jalbers, PMID:28276060] |
The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). |
HP:0020219 |
| HPO |
HP:0001257 |
Spasticity |
"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] |
— |
HP:0001276, HP:0002493 |
| HPO |
HP:0010864 |
Intellectual disability, severe |
"Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. |
HP:0001249 |
| HPO |
HP:0006956 |
Dilation of lateral ventricles |
— |
— |
HP:0002119, HP:0030047 |
| HPO |
HP:0012704 |
Widened subarachnoid space |
"An increase in size of the anatomic space between the arachnoid membrane and pia mater." [HPO:probinson] |
— |
HP:0012703 |
| HPO |
HP:0000733 |
Stereotypy |
"A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral." [HPO:probinson] |
An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. |
HP:0004305 |
| HPO |
HP:0100704 |
Cerebral visual impairment |
"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson, PMID:28082927] |
The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. |
HP:0000505 |
| HPO |
HP:0001999 |
Abnormal facial shape |
"An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith] |
This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. |
HP:0000271 |
| HPO |
HP:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0025097 |
Eyelid myoclonus |
"Marked, involuntary jerking of the eyelids." [] |
Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. |
HP:0001336 |
| HPO |
HP:0002123 |
Generalized myoclonic seizure |
"A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO:jalbers, PMID:28276060, PMID:28276064] |
— |
HP:0032677, HP:0032794 |
| HPO |
HP:0011153 |
Focal motor seizure |
"A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation." [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] |
A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex. |
HP:0007359, HP:0020219 |
| HPO |
HP:0011471 |
Gastrostomy tube feeding in infancy |
"Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] |
This is an extremely severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |
| HPO |
HP:0002069 |
Bilateral tonic-clonic seizure |
"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [HPO:pnrobinson, PMID:28276060] |
A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. |
HP:0001250 |
| HPO |
HP:0025100 |
Abnormal hippocampus morphology |
"Any structural anomaly of the hippocampus," [] |
The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. |
HP:0007343 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0010821 |
Focal emotional seizure with laughing |
"Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'." [HPO:probinson, PMID:28276060, PMID:28276064] |
This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. |
HP:0025613 |
| HPO |
HP:0002465 |
Poor speech |
— |
— |
HP:0002167 |
| HPO |
HP:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0002133 |
Status epilepticus |
"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." [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:26336950, PMID:28276060] |
In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. |
HP:0001250 |
| HPO |
HP:0002059 |
Cerebral atrophy |
"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken] |
Atrophy may be progressive over time. |
HP:0007369 |
| HPO |
HP:0010553 |
Oculogyric crisis |
"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [HPO:curators] |
— |
HP:0001332 |