All terms in HP

Label Id Description
Acquired aphakia HP_0025111 [Absence of the crystalline lens in the eye known to be the result of a non-congenital condition, e.g., following surgical removal of the lens for cataracts or trauma.]
Umbilicated nodule HP_0025103 [A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).]
Dysgenesis of the hippocampus HP_0025101 [Structural abnormality of the hippocampus related to defective development.]
Dysgenesis of the basal ganglia HP_0025102 [Structural abnormality of the basal ganglia related to defective development.]
Cutis marmorata telangiectatica congenita HP_0025107 [A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.]
Angioma serpentinum HP_0025108 [Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.]
Nevus anemicus HP_0025105 [A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots.]
Nevus roseus HP_0025106 [A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.]
obsolete Choroidal sclerosis HP_0001150
Impaired horizontal smooth pursuit HP_0001151 [An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.]
Reduced red cell pyruvate kinase level HP_0025109 [Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.]
Broad palm HP_0001169 [For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.]
Increased serum estriol HP_0025136 [An elevation above normal limits of estriol concentration in the circulation.]
Abnormal serum estriol HP_0025135 [A deviation from normal concentration of estriol in the circulation.]
Decreased serum estriol HP_0025137 [A reduction below normal limits of estriol in the circulation.]
Increased serum estradiol HP_0025134 [An elevation above normal limits of the concentration of estradiol in the circulation.]
Abnormal serum estradiol HP_0025133 [A deviation from normal concentrations of estradiol in the circulation.]
Abnormal circulating estrogen level HP_0025132 [A deviation from normal concentration of the hormone estrogen in the blood circulation.]
Arachnodactyly HP_0001166 [Abnormally long and slender fingers (spider fingers).]
Increased serum estrone HP_0025139 [An elevation above normal limits of the concentration of estrone in the circulation.]