Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Fused fourth and fifth metacarpals	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.]
Impaired oxidative burst	HP_0003203	[In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.]
Type E brachydactyly	HP_0005863	[In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.]
glucose-6-phosphate isomerase activity	GO_0004347	[Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate.]
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.]
Abnormal eyelid movement	HP_0031785	[An abnormality in voluntary or involuntary eyelid movements or their control.]
respiratory primordium epithelium	UBERON_0036072
respiratory primordium mesenchyme	UBERON_0036073
sigmoid sinus	UBERON_0005475	[A portion of the lateral venous sinus, bulging prominently into the mastoid cavity, that serves as a principal conduit by which blood leaves the cranium[EPIC]. The sigmoid is drained by the internal jugular vein]
transverse sinus	UBERON_0001641	[one of the dural venous sinuses and drains the superior sagittal sinus the occipital sinus and the straight sinus, and empties into the sigmoid sinus which in turn reaches the jugular bulb.]
envelope	GO_0031975	[A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers.]
membrane-bounded organelle	GO_0043227	[Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.]
Decreased pyruvate carboxylase activity	HP_0003209	[A decreased rate of pyruvate carboxylase activity.]
mitochondrial membrane	GO_0031966	[Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.]