Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Lower extremity peripheral arterial calcification	HP_0031302	[An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.]
Tibial arterial calcification	HP_0031305	[An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.]
Forearm reduction defects	HP_0006368
Peripheral arterial calcification	HP_0031301	[An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.]
Irregular patellae	HP_0006369	[An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.]
Femoral arterial calcification	HP_0031303	[An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.]
Adductor longus contractures	HP_0006366
Crumpled long bones	HP_0006367	[An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.]
Varus deformity of humeral neck	HP_0006362
Distal ulnar epiphyseal stippling	HP_0006370	[The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.]
Abnormal circulating properdin level	HP_0031300	[A deviation from the normal concentration of properdin in the blood.]
Abnormal cadiomyocyte dystrophin staining	HP_0031339	[Anomalous staining of dystrophin in cardiomyocytes.]
Abnormal cardiomyocyte connexin43 staining	HP_0031337	[Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.]
Abnormal cardiomyocyte plakoglobin staining	HP_0031338	[Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.]
Abnormal cardiomyocyte mitochondrial morphology	HP_0031335	[An anomaly of the structure of mitochondria within cardiomyocytes.]
Proximal tibial hypoplasia	HP_0006379
Intranuclear cardiomyocyte mitochondria	HP_0031336	[Abnormal localization of mitochondria within the nuclei of cardiomyocytes.]
Osteolysis of patellae	HP_0006378
Dumbbell-shaped femur	HP_0006375	[The femur is shortened and displays flaring (widening) of the metaphyses.]
Broad long bone diaphyses	HP_0006371	[Increased width of the diaphysis of long bones.]