All terms in HP

Label Id Description
Third ventricle colloid cyst HP_0032578 [An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.]
Clonal T cell receptor rearrangement HP_0032577 [Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.]
Abnormal TCR repertoire HP_0025845 [Abnormal distribution of the TCR repertoire expressed on T cells. This usually means oligoclonality (fewer TCR clonotypes compared to a healthy age-matched control) or monoclonality (one dominant TCR clone detected). This may be measured through different methods depending on the lab, but commonly include TCR spectratyping or TCRB CDR3 sequencing.]
Intracellular accumulation of Dol-PP-GlcNAc2Man5 HP_0032576 [Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.]
Decreased circulating 12-HETE HP_0032575 [A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.]
Abnormal circulating unsaturated fatty acid concentration HP_0011022 [A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.]
Elevated urinary uridine level HP_0032574 [Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.]
Elevated urinary cytidine HP_0032573 [Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.]
Abnormal urinary nucleobase concentration HP_0032572 [A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).]
Increased oocyte death HP_0032571 [An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.]
Pontine ischemic lacunes HP_0032570 [Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.]
distal phalanx of pedal digit 1 UBERON_0004315 [A distal phalanx that is part of a foot digit 1 [Automatically generated definition].]
distal phalanx of digit 1 UBERON_0014483 [A distal phalanx that is part of a digit 1 [Automatically generated definition].]
distal phalanx of pes UBERON_0003867 [A distal phalanx that is part of a pedal digit [Automatically generated definition].]
pedal digit 1 phalanx UBERON_0003640 [A phalanx that is part of a foot digit 1 [Automatically generated definition].]
distal phalanx UBERON_0004300 [Distal-most phalanx within a digit.]
distal phalanx of manual digit 5 UBERON_0004314 [A distal phalanx that is part of a hand digit 5 [Automatically generated definition].]
manual digit 5 phalanx UBERON_0003639 [A phalanx that is part of a hand digit 5 [Automatically generated definition].]
distal phalanx of digit 5 UBERON_0014487 [A distal phalanx that is part of a digit 5 [Automatically generated definition].]
distal phalanx of manus UBERON_0003865 [A distal phalanx that is part of a finger [Automatically generated definition].]