| HPO |
HP:0002488 |
Acute leukemia |
"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300] |
— |
HP:0001909 |
| HPO |
HP:0002490 |
Increased CSF lactate |
"Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] |
— |
HP:0030085 |
| HPO |
HP:0002491 |
Spasticity of facial muscles |
"Spasticity of one or more muscles innervated by the facial nerve." [] |
Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. |
HP:0000301, HP:0001257 |
| HPO |
HP:0002492 |
Morphological abnormality of the corticospinal tract |
"Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [HPO:probinson] |
— |
HP:0002062 |
| HPO |
HP:0002493 |
Upper motor neuron dysfunction |
"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." [HPO:probinson] |
A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). |
HP:0011442 |
| HPO |
HP:0002494 |
Abnormal rapid eye movement sleep |
"Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators] |
— |
HP:0002360 |
| HPO |
HP:0002495 |
Impaired vibratory sensation |
"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:probinson] |
Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. |
HP:0010831 |
| HPO |
HP:0002497 |
Spastic ataxia |
— |
— |
HP:0001251 |
| HPO |
HP:0002500 |
Abnormal cerebral white matter morphology |
"An abnormality of the cerebral white matter." [HPO:probinson] |
This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. |
HP:0010993 |
| HPO |
HP:0002501 |
Spasticity of pharyngeal muscles |
— |
— |
HP:0001257 |
| HPO |
HP:0002503 |
Spinocerebellar tract degeneration |
— |
— |
HP:0003133 |
| HPO |
HP:0002504 |
Calcification of the small brain vessels |
"Deposition of calcium salts within small blood vessels of the brain." [HPO:probinson] |
This finding can be made upon neuropathologic examination. |
HP:0009145, HP:0031306 |
| HPO |
HP:0002505 |
Progressive inability to walk |
— |
— |
HP:0002540 |
| HPO |
HP:0002506 |
Diffuse cerebral atrophy |
"Diffuse unlocalised atrophy affecting the cerebrum." [HPO:sdoelken] |
— |
HP:0002059 |
| HPO |
HP:0002507 |
Semilobar holoprosencephaly |
"A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [gc:hpe] |
— |
HP:0001360 |
| HPO |
HP:0002508 |
Brainstem dysplasia |
"A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [HPO:probinson] |
— |
HP:0002363 |
| HPO |
HP:0002509 |
Limb hypertonia |
— |
— |
HP:0001276, HP:0009127 |
| HPO |
HP:0002510 |
Spastic tetraplegia |
"Spastic paralysis affecting all four limbs." [HPO:probinson] |
— |
HP:0001257 |
| HPO |
HP:0002511 |
Alzheimer disease |
"A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [HPO:probinson] |
Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. |
HP:0002011 |
| HPO |
HP:0002512 |
Brain stem compression |
— |
— |
HP:0002363 |
| HPO |
HP:0002514 |
Cerebral calcification |
"The presence of calcium deposition within brain structures." [HPO:probinson] |
This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. |
HP:0002060, HP:0010766 |
| HPO |
HP:0002515 |
Waddling gait |
"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207] |
— |
HP:0001288 |
| HPO |
HP:0002516 |
Increased intracranial pressure |
"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] |
Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. |
HP:0012640 |
| HPO |
HP:0002518 |
Abnormal periventricular white matter morphology |
"A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles." [] |
— |
HP:0002352, HP:0002500 |
| HPO |
HP:0002519 |
Hypnagogic hallucinations |
"Fleeting perceptual experiences that occur during the transition from wakefulness to sleep." [PMID:27358492] |
Hypnagogic hallucinations are visual, auditory and tactile sensations are most commonly reported . Visual phenomena typically consist of kaleidoscopically changing phenomena such as geometric patterns, shapes and light flashes. Images involving animals, people and faces, and scenes also occur and are described as lifelike, highly detailed and colorful. Voices and other sounds (phone, doorbell, music) occur less commonly. They comprise vivid auditory impressions of words or names, people talking, and environmental or animal sounds. Somatic experiences also occur, including bodily distortions, feelings of weightlessness, flying or falling, and a sense of presence in the room. |
HP:0000738 |