Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Increased level of methylsuccinic acid in urine	HP_0410153	[An increase in the level of methylsuccinic acid in the urine.]
Scapular winging	HP_0003691	[Abnormal protrusion of the scapula away from the surface of the back.]
Eosinophilic microabscess formation in the esophagus	HP_0410152	[The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.]
Esophagitis	HP_0100633	[Inflammation of the esophagus.]
Late-onset proximal muscle weakness	HP_0003694	[Lack of strength of the proximal musculature occurring late in the clinical course.]
Absent phalangeal crease	HP_0006109	[Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).]
Increased level of myristic acid in serum	HP_0410154	[An increase in the level of myristic acid in the serum.]
obsolete Elevated serum long-chain fatty acids	HP_0045016
Eosinophilic infiltration of the esophagus	HP_0410151	[Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.]
Abnormal capillary morphology	HP_0025016	[A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.]
Absent dorsal skin creases over affected joints	HP_0001049
Abnormal finger flexion creases	HP_0006143
Drug-induced anaphylaxis	HP_0410149	[A form of anaphylaxis that is triggered by intake of drugs or medications.]
Decerebrate rigidity	HP_0025013	[A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.]
Subcutaneous spheroids	HP_0025014	[Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.]
Arterial rupture	HP_0025019	[Sudden breakage of an artery leading to leakage of blood from the circulation.]
Increased biotinidase activity	HP_0410146	[An increase in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.]
Abnormal biotinidase activity	HP_0410144	[An abnormality in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.]
glutamine metabolic process	GO_0006541	[The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid.]
Decreased biotinidase activity	HP_0410145	[A decrease in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.]