Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Portal vein thrombosis	HP_0030242	[Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.]
Hepatic vein thrombosis	HP_0030243	[An obstruction in the veins of the liver caused by a blood clot (thrombosis).]
neprilysin (human)	PR_P08473	[A neprilysin that is encoded in the genome of human.]
MME (human)	gene_symbol_report	[A protein coding gene MME in human.]
Hypoplasia of deltoid muscle	HP_0030241	[Underdevelopment of the deltoid muscle.]
Extremely elevated creatine kinase	HP_0030235	[An increased creatine kinase level more than 50X above the upper normal level.]
Elevated serum creatine kinase	HP_0003236	[An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.]
Abnormality of muscle size	HP_0030236	[Abnormalities of the overall muscle bulk based on clinical observation.]
obsolete Premature peripheral vascular disease	HP_0005299
Premature occlusive vascular stenosis	HP_0005297	[Peripheral arterial stenosis with onset before the age of 50 years.]
obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia	HP_0005298
Pseudocoarctation of the aorta	HP_0005295	[Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.]
obsolete Occlusive vascular disease	HP_0005296
Bethlem sign	HP_0030233	[Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.]
Highly elevated creatine kinase	HP_0030234	[An increased CPK level between 4X and 50X above the upper normal level.]
xenobiotic metabolite	CHEBI_76206	[Any metabolite produced by metabolism of a xenobiotic compound.]
Glycogen accumulation in muscle fiber lysosomes	HP_0030231	[An increased amount of glycogen in muscle tissue found specifically in lysosomes.]
Increased sarcoplasmic glycogen	HP_0030232	[Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.]
prokaryotic metabolite	CHEBI_75787	[Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea.]
Central core regions in muscle fibers	HP_0030230	[The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.]