All terms in HP

Label Id Description
obsolete Progressive retinal degeneration HP_0007893
Hypoplasia of the lacrimal punctum HP_0007892 [Underdevelopment of the lacrimal puncta.]
Biliary tract obstruction HP_0005230 [Obstruction affecting the biliary tree.]
Bilateral symmetric neonatal sequential seizure HP_0032839 [Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.]
Neonatal seizure with bilateral asymmetric automatism HP_0032830 [Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.]
hepatic immune response GO_0002384 [An immune response taking place in the liver.]
organ or tissue specific immune response GO_0002251 [An immune response taking place in an organ or tissues such as the liver, brain, mucosa, or nervous system tissues.]
D-glutamic acid CHEBI_15966 [An optically active form of glutamic acid having D-configuration.]
immunoglobulin production involved in immunoglobulin-mediated immune response GO_0002381 [The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels.]
immunoglobulin production GO_0002377 [The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.]
ribitol CHEBI_15963 [A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis.]
pentitol CHEBI_25899 [An alditol obtained by reduction of any pentose.]
Anti-neuromuscular Junction acetylcholine receptor antibody positivity HP_0030208 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.]
Anti-acetylcholine receptor antibody positivity HP_6001064 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptor.]
Calcium channel antibody positivity HP_0030209 [The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.]
Focal non-convulsive status epilepticus without impairment of consciousness HP_0032869 [Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.]
EMG: incremental response of compound muscle action potential to repetitive nerve stimulation HP_0030206 [A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.]
EMG: impaired neuromuscular transmission HP_0100285 [An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).]
Paradoxical respiration HP_0030207 [Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.]
Super-refractory status epilepticus HP_0032868 [Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.]