All terms in HP

Label Id Description
Myotonia of the face HP_0012900 [Slowed relaxation of muscles in the face.]
Euryblepharon HP_0012905 [Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.]
Cold-sensitive myotonia HP_0012904 [An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.]
Myotonia of the upper limb HP_0012903 [Slowed relaxation of muscles in the arm.]
Abnormality of the skeletal system HP_0000924 [An abnormality of the skeletal system.]
Abnormality of the musculoskeletal system HP_0033127 [An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.]
Platyspondyly HP_0000926 [A flattened vertebral body shape with reduced distance between the vertebral endplates.]
epithelial layer of duct UBERON_0034969
Enlargement of the costochondral junction HP_0000920 [Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.]
Posterior rib cupping HP_0000922 [Wide, concave posterior rib end.]
obsolete Beaded ribs HP_0000923
2:1 atrioventricular block HP_0034305 [A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.]
Second degree atrioventricular block HP_0011706 [An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.]
Deviation of the 4th toe HP_0010338
Abnormal fourth toe morphology HP_0010321 [An anomaly of the fourth toe.]
Ventricular bigeminy HP_0034306 [An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.]
Ventricular arrhythmia HP_0004308
Flexion contracture of the 4th toe HP_0010339 [One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.]
Elevated left ventricular end-diastolic diameter HP_0034307 [The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.]
Aplasia/Hypoplasia of the 4th toe HP_0010337