Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Strabismus	HP_0000486	[A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.]
Retinal coloboma	HP_0000480	[A notch or cleft of the retina.]
Elevated hepatic iron concentration	HP_0012465	[An increased level of iron in liver tissues.]
Abnormal hepatic iron concentration	HP_0040134
Decreased transferrin saturation	HP_0012464	[A below normal level of saturation of serum transferrin with iron.]
Abnormal transferrin saturation	HP_0040135	[Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.]
Elevated transferrin saturation	HP_0012463	[An above normal level of saturation of serum transferrin with iron.]
Chin myoclonus	HP_0012462	[Involuntary and irregular twitches of the chin.]
Infantile spasms	HP_0012469	[Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).]
Epileptic spasms	HP_0011097	[A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure.]
Acidosis	HP_0001941	[Abnormal acid accumulation or depletion of base.]
Acute respiratory acidosis	HP_0012467	[Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).]
Respiratory acidosis	HP_0005972	[Acidosis because of respiratory retention of carbon dioxide.]
Chronic respiratory acidosis	HP_0012466	[Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).]
Bacteriuria	HP_0012461	[The presence of bacteria in the urine.]
Dysmorphic inferior cerebellar vermis	HP_0012460	[A structural anomaly of the inferior portion of the vermis of cerebellum.]
right lung associated mesenchyme	UBERON_0009603	[Mesenchyme that is part of a developing right lung.]
left lung associated mesenchyme	UBERON_0009602	[Mesenchyme that is part of a developing left lung.]
midbrain neural plate	UBERON_0009611	[A neural plate that develops_from a presumptive midbrain.]
neural plate	UBERON_0003075	[A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]]