Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Knee flexion contracture	HP_0006380	[A bent (flexed) knee joint that cannot be straightened actively or passively.]
Rudimentary fibula	HP_0006381	[Absent or nearly absent fibula. (Does not include aplastic)]
Myocardial sarcomeric disarray	HP_0031333	[A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.]
Cardiomyocyte inclusion bodies	HP_0031334	[Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.]
Cardiomyocyte degeneration	HP_0031332	[Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.]
Perivascular myocardial immune cell infiltration	HP_0031330	[An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.]
Myocardial immune cell infiltration	HP_0031321	[An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).]
Perivascular cardiac fibrosis	HP_0031328	[A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.]
Interstitial cardiac fibrosis	HP_0031329	[A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.]
Monoclonal light chain cardiac amyloidosis	HP_0031326	[A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.]
Transthyretin cardiac amyloidosis	HP_0031327	[A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.]
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.]
Hypoplastic distal radial epiphyses	HP_0006386	[Underdevelopment of the distal epiphysis of the radius.]
Small radial epiphyses	HP_0004010
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.]
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.]
Myocardial lymphocytic infiltration	HP_0031322	[An increase in the number of lymphocytes in myocardial tissue.]