Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Absent muscle fiber dysferlin	HP_0030114	[Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.]
Abnormal muscle fiber dysferlin	HP_0030113	[A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing.]
Reduced muscle fiber dysferlin	HP_0030115	[Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.]
Complete heart block with narrow QRS complexes	HP_0005178	[A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.]
biochemical role	CHEBI_52206	[A biological role played by the molecular entity or part thereof within a biochemical context.]
Dysplastic aortic valve	HP_0005176	[A congenital malformation of the aortic valve characterized by leaflet deformation.]
inorganic cation	CHEBI_36915
Premature arteriosclerosis	HP_0005177	[Arteriosclerosis occurring at an age that is younger than usual.]
Membranous subvalvular aortic stenosis	HP_0005174	[Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.]
Subvalvular aortic stenosis	HP_0001682	[A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.]
metalloporphyrin	CHEBI_25216
Left posterior fascicular block	HP_0005172	[Conduction block in the posterior division of the left bundle branch of the bundle of His.]
Left bundle branch block	HP_0011713	[A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.]
obsolete Calcific aortic valve stenosis	HP_0005173
Abnormal CSF pyruvate family amino acid concentration	HP_0500231	[Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.]
Premature coronary artery atherosclerosis	HP_0005181	[Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.]
Abnormal CSF alanine concentration	HP_0500232	[Any deviation from the normal concentration of alanine in the cerebrospinal fluid.]
Bicuspid pulmonary valve	HP_0005182	[The presence of a bicuspid pulmonary valve.]
Abnormal pulmonary valve cusp morphology	HP_0031566	[Any structural anomaly of the pulmonary valve leaflets.]
Increased CSF alanine concentration	HP_0500233	[Abnormally increased levels of alanine in cerebrospinal fluid.]