Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Percussion myotonia	HP_0010548	[A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).]
Downbeat nystagmus	HP_0010545	[Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.]
Vertical nystagmus	HP_0010544	[Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.]
Muscle fibrillation	HP_0010546	[Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.]
Weakness due to upper motor neuron dysfunction	HP_0010549	[Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.]
Curved distal phalanx of the 2nd finger	HP_0009560	[Curved appearance of the distal phalanx of the 2nd finger.]
Advanced pneumatization of cranial sinuses	HP_0010540	[A degree of pneumatization that is increased compared to age-related norms.]
Aplasia/Hypoplasia of the phalanges of the 2nd finger	HP_0009552
Congenital abnormal hair pattern	HP_0011361	[A congenital abnormality of the distribution of hair growth.]
Preauricular hair displacement	HP_0009554	[An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.]
Opsoclonus	HP_0010543	[Bursts of large-amplitude multidirectional saccades without intersaccadic interval]
Saccadic oscillation	HP_0032104	[An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.]
Hypoplasia of the pharynx	HP_0009555	[Underdevelopment of the pharynx.]
Absent tibia	HP_0009556	[Absence of the tibia.]
Rudimentary to absent tibiae	HP_0006426
Cutis gyrata of scalp	HP_0010541	[The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.]
Vestibular nystagmus	HP_0010542	[Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.]
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	HP_0009557
Broad distal phalanx of the 2nd finger	HP_0009558	[Increased width of the distal phalanx of the 2nd finger.]
Bullet-shaped distal phalanx of the 2nd finger	HP_0009559	[Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.]