All terms in HP

Label Id Description
Amygdala microinfarct HP_0033988 [An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.]
Phosphaturic mesenchymal tumor HP_0033987 [A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.]
Myocardial multinucleated giant cells HP_0031324 [The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.]
Myocardial granulomatous infiltrates HP_0031325 [The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.]
Tortuous lymphatic vessels HP_0033986 [The presence of an increased number of twists and turns of lymphatic vessels.]
Limited knee flexion HP_0006389 [Reduced ability to flex (bend) the knee joint.]
Hypoplastic distal radial epiphyses HP_0006386 [Underdevelopment of the distal epiphysis of the radius.]
Wide distal femoral metaphysis HP_0006387 [Increased width of the distal part of the shaft (metaphysis) of the femur.]
Club-shaped distal femur HP_0006384 [An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.]
Short lower limbs HP_0006385 [Shortening of the legs related to developmental hypoplasia of the bones of the leg.]
Overtubulated long bones HP_0006391 [Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.]
Anterior tibial bowing HP_0006390 [An abnormal anterior bending or curvature of the tibia.]
Elongated femoral neck HP_0033985 [Increased length of the neck of the femur.]
Myocardial lymphocytic infiltration HP_0031322 [An increase in the number of lymphocytes in myocardial tissue.]
Myocardial eosinophilic infiltration HP_0031323 [An increase in the number of eosinophils in myocardial tissue.]
Increased urinary 8-oxo-7,8-dihydroguanosine level HP_0033984 [An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.]
Decreased circulating apolipoprotein C-II concentration HP_0033983 [Reduced concentration of apolipoprotein C-II in the blood circulation.]
Cardiomyocyte mitochondrial proliferation HP_0031320 [An abnormal increase in the number of mitochondria per cardiac myocyte.]
Celiac artery dissection HP_0033982 [A separation (dissection) of the layers of the celiac artery wall.]
Vertebral artery tortuosity HP_0033981 [Abnormal tortuous (i.e., twisted) form of the vertebral arteries.]