All terms in HP

Label Id Description
Absent muscle fiber calpain-3 HP_0030120 [Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.]
Focal aware autonomic seizure with urge to urinate/defecate HP_0032781 [A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.]
Focal impaired awareness autonomic seizure with erection HP_0032780 [A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.]
Increased CSF serine concentration HP_0500227 [Abnormally increased levels of serine in cerebrospinal fluid.]
Reduced muscle fiber emerin HP_0030118 [Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.]
Abnormal muscle fiber emerin HP_0030116 [A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.]
Focal impaired awareness autonomic seizure with pupillary dilation/constriction HP_0032779 [A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.]
Absent muscle fiber emerin HP_0030117 [Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.]
Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP_0032778 [A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.]
Focal impaired awareness autonomic seizure with pallor/flushing HP_0032777 [A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.]
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.]
Focal aware autonomic seizure with lacrimation HP_0032776
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.]
metabolite CHEBI_25212 [Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites.]
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.]