All terms in HP

Label Id Description
Absence of alpha granules HP_0012526 [A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.]
Abnormal alpha granule distribution HP_0012525 [An anomalous location and arrangement of platelet alpha granules.]
forkhead box protein N1 PR_000007636 [A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof.]
Abnormal dense granule content HP_0012529 [A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.]
Abnormal dense granules HP_0012484 [Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.]
Dilation of Virchow-Robin spaces HP_0012520 [Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.]
Abnormal platelet shape HP_0012524 [A deviation from the normal discoid platelet shape.]
Abnormal platelet morphology HP_0011875 [An anomaly in platelet form, ultrastructure, or intracellular organelles.]
Oral aversion HP_0012523 [Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).]
Spider hemangioma HP_0012522 [A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.]
Optic nerve aplasia HP_0012521 [Congenital absence of the optic nerve.]
tooth mineralization GO_0034505 [The process in which calcium salts are deposited into calcareous tooth structures such as dental enamel, dentin and cementum.]
obsolete Tapetoretinal degeneration HP_0000547
Cone/cone-rod dystrophy HP_0000548
Retinal dystrophy HP_0000556 [Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.]
regulation of glycoprotein metabolic process GO_1903018 [Any process that modulates the frequency, rate or extent of glycoprotein metabolic process.]
negative regulation of phosphorus metabolic process GO_0010563 [Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.]
Inflammatory abnormality of the eye HP_0100533 [Inflammation of the eye, parts of the eye or the periorbital region.]
Leukocoria HP_0000555 [An abnormal white reflection from the pupil rather than the usual black reflection.]
positive regulation of glycoprotein metabolic process GO_1903020 [Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process.]