All terms in HP

Label Id Description
Chronic constipation HP_0012450 [Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.]
obsolete Congenital strabismus HP_0000487
Retinopathy HP_0000488 [Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.]
obsolete Abnormality of globe location or size HP_0000489
Astigmatism HP_0000483 [A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.]
Hyperopic astigmatism HP_0000484 [A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.]
Megalocornea HP_0000485 [An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.]
Abnormality of corneal size HP_0001120 [Any abnormality of the size or morphology of the cornea.]
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 or choroid, located vertically below the optic disc.]
Microcornea HP_0000482 [A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.]
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 spasm HP_0011097 [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]
Acidosis HP_0001941 [Abnormal acid accumulation or depletion of base.]