Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
bone maturation	GO_0070977	[A developmental process, independent of morphogenetic (shape) change, that is required for bone to attain its fully functional state.]
Brachytelomesophalangy	HP_0005872	[Disproportionately short middle and distal phalanges compared to the hand/foot.]
morphogenesis of embryonic epithelium	GO_0016331	[The process in which the anatomical structures of embryonic epithelia are generated and organized.]
ossification involved in bone remodeling	GO_0043932	[The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli.]
Decreased methylmalonyl-CoA mutase activity	HP_0003210	[An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.]
Ski jump nail	HP_0030819	[Nails that slope upward at the free edge.]
Beaked nails	HP_0030817	[Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.]
Central nail canal	HP_0030818	[The presense of a depressed line ("canal") in the center of the nail.]
Nail dystrophy	HP_0008404	[Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.]
Lipoma of the tongue	HP_0030815	[A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.]
Gingival recession	HP_0030816	[The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.]
Ethylmalonic aciduria	HP_0003219	[An increased concentration of ethylmalonic acid in the urine.]
Abnormal jugular venous pressure	HP_0030847	[An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.]
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	HP_0003226	[An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.]
Undetectable pattern electroretinogram	HP_0030844	[Absent response to a pattern electroretinogram (PERG).]
Heliotrope rash of eyelid	HP_0030845	[Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.]
Heliotrope rash	HP_0040324	[In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.]
Hypernatremia	HP_0003228	[An abnormally increased sodium concentration in the blood.]
intracellular organelle lumen	GO_0070013	[An organelle lumen that is part of an intracellular organelle.]
nucleus	GO_0005634	[A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.]