Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Autosomal dominant germline de novo mutation	HP_0025352	[Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation.]
Anti-multiple nuclear dots antibody positivity	HP_0025353	[A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.]
Giant conjunctival papillae	HP_0025350	[Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.]
obsolete Ligamentous laxity	HP_0001380
Recurrent interdigital mycosis	HP_0025351	[A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.]
parasomnia	NBO_0000493
Abnormality of circulating beta-2-microglobulin level	HP_0025345	[A deviation from the normal concentration of beta-2-microglobulin in the blood.]
Increased circulating beta-2-microglobulin level	HP_0025346	[Elevated concentration of beta-2-microglobulin in the blood.]
Lupus anticoagulant	HP_0025343	[Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.]
Interlobular bile duct destruction	HP_0025344	[Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).]
Limbal edema	HP_0025349	[Swelling of the margin of the cornea overlapped by the sclera.]
Abnormality of the corneal limbus	HP_0025348	[An anomaly of the margin of the cornea overlapped by the sclera.]
Lipid accumulation in hepatocytes	HP_0006561
Decreased circulating beta-2-microglobulin level	HP_0025347	[Reduced concentration of beta-2-microglobulin in the blood.]
Hepatic failure	HP_0001399
Corneal keratic precipitates	HP_0025341	[An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.]
Abnormal corneal endothelium morphology	HP_0011488	[Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.]
Central retinal artery occlusion	HP_0025342	[Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.]
Deep episcleral hyperemia	HP_0025340	[Prominence of blood vessels of the deep episcleral tissues.]
Anti-thyroid peroxidase antibody positivity	HP_0025379	[The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.]