All terms in HP

Label Id Description
Abnormal metabolism HP_0032245 [An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.]
Generalized distal tubular acidosis HP_0004916
Distal renal tubular acidosis HP_0008341 [A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.]
Intermittent lactic acidemia HP_0004913 [An intermittent (discontinuous) form of lactic acidemia.]
Recurrent infantile hypoglycemia HP_0004914 [Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.]
Recurrent hypoglycemia HP_0001988 [Recurrent episodes of decreased concentration of glucose in the blood.]
muscle layer of intestine UBERON_0012367 [A muscle layer that is part of an intestine.]
Atypical hyperphenylalaninemia HP_0004922
Abnormal circulating phenylalanine concentration HP_0010893 [Any deviation from the normal concentration of phenylalanine in the blood circulation.]
Hyperphenylalaninemia HP_0004923 [An increased concentration of L-phenylalanine in the blood.]
regulation of proteolysis GO_0030162 [Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.]
regulation of protein metabolic process GO_0051246 [Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein.]
Phenylpyruvic acidemia HP_0004920
Acidemia HP_0032368 [An abnormally low blood pH (usually defined as less than 7.35).]
Abnormal magnesium concentration HP_0004921 [An abnormality of magnesium ion homeostasis.]
Abnormal blood inorganic cation concentration HP_0010927 [An abnormality of divalent inorganic cation homeostasis.]
apocrine sweat gland UBERON_0000382 [Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP].]
skin apocrine gland UBERON_0012177 [An apocrine gland that is part of a skin of body.]
platelet activation GO_0030168 [A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.]
cell activation GO_0001775 [A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell.]