All terms in HP

Label Id Description
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP_0003205 [An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.]
Intracellular accumulation of autofluorescent lipopigment storage material HP_0003204 [The intracellular accumulation of autofluorescent storage material.]
Mizuo phenomenon HP_0030824 [Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].]
Absent foveal reflex HP_0030825 [Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.]
Opposable triphalangeal thumb HP_0005866 [A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.]
Triphalangeal thumb HP_0001199 [A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.]
Hooded upper eyelid HP_0030822 [Upper eyelid partly covered by skin when eyes are open.]
Hooded eyelid HP_0030820 [Eyelid partly covered by skin when eyes are open.]
4-5 metacarpal synostosis HP_0005867
Decreased activity of NADPH oxidase HP_0003206
Abnormality of superoxide metabolism HP_0004358
Scleral thickening HP_0030823 [Increased dimension of the sclera in the anterior-posterior axis.]
Ragged-red muscle fibers HP_0003200 [An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.]
Hooded lower eyelid HP_0030821 [Lower eyelid partly covered by skin when eyes are open.]
Decreased neutrophil oxidative burst HP_0003203 [Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands.]
Type E brachydactyly HP_0005863 [In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.]
female meiosis chromosome segregation GO_0016321 [The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female.]
meiotic chromosome segregation GO_0045132 [The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle.]
Wheezing HP_0030828 [A high-pitched whistling sound associated with labored breathing.]
Eyelid fasciculation HP_0030826 [Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.]