All terms in HP

Label Id Description
Anomalous origin of one pulmonary artery from ascending aorta HP_0011660 [Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.]
Ventricular septal hypertrophy HP_0005144 [The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.]
obsolete Episodes of ventricular tachycardia HP_0005141
positive regulation of lymphocyte activation GO_0051251 [Any process that activates or increases the frequency, rate or extent of lymphocyte activation.]
regulation of lymphocyte activation GO_0051249 [Any process that modulates the frequency, rate or extent of lymphocyte activation.]
negative regulation of lymphocyte activation GO_0051250 [Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation.]
taurine CHEBI_15891 [An amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid. It is a naturally occurring amino acid derived from methionine and cysteine metabolism. An abundant component of fish- and meat-based foods, it has been used as an oral supplement in the treatment of disorders such as cystic fibrosis and hypertension.]
Increased CSF glutamate concentration HP_0500200 [Abnormally increased levels of glutamic acid in cerebrospinal fluid.]
Abnormal CSF glutamate concentration HP_0500199 [Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.]
Decreased CSF glutamate concentration HP_0500201 [Abnormally decreased levels of glutamic acid in cerebrospinal fluid.]
Abnormal CSF lysine concentration HP_0500206 [Any deviation from the normal concentration of lysine in the cerebrospinal fluid.]
Abnormal CSF aspartate family amino acid concentration HP_0500205 [Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.]
Focal autonomic seizure with erection HP_0032764 [A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.]
Absent muscle fiber alpha sarcoglycan HP_0030101 [Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.]
Abnormal muscle fiber alpha sarcoglycan HP_0030100 [Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.]
Decreased CSF lysine concentration HP_0500207 [Abnormally decreased levels of lysine in cerebrospinal fluid.]
Reduced muscle fiber alpha sarcoglycan HP_0030102 [A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.]
Increased CSF lysine concentration HP_0500208 [Abnormally increased levels of lysine in cerebrospinal fluid.]
Focal autonomic seizure with pallor/flushing HP_0032762 [A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.]
Focal aware autonomic seizure with pallor/flushing HP_0032761 [A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.]