All terms in HP

Label Id Description
Focal sensory seizure with gustatory features HP_0011160 [A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.]
Abnormal muscle fiber myotilin HP_0030226 [A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.]
Accumulation of muscle fiber myotilin HP_0030227 [Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.]
Focal impaired awareness cognitive seizure with forced thinking HP_0032888 [A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.]
Focal impaired awareness cognitive seizure HP_0032756 [A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.]
Miscarriage HP_0005268 [A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.]
Generalized atonic seizure HP_0032887 [Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.]
Abnormal muscle fiber desmin HP_0030224 [A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.]
Accumulation of muscle fiber desmin HP_0030225 [Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.]
Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia HP_0032886 [A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.]
Focal cognitive seizure with expressive dysphasia/aphasia HP_0032702 [A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.]
Premature delivery because of cervical insufficiency or membrane fragility HP_0005267
Premature birth HP_0001622 [The birth of a baby of less than 37 weeks of gestational age.]
Abnormality of the biliary system HP_0004297 [An abnormality of the biliary system.]
methyltetrahydrofolate CHEBI_25345 [A group of heterocyclic compounds based on the N-methylated 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units.]
Abnormal jejunum morphology HP_0005265 [An abnormality of the jejunum, i.e., of the middle section of the small intestine.]
Joint hemorrhage HP_0005261 [Hemorrhage occurring within a joint.]
pathway inhibitor CHEBI_76932 [An enzyme inhibitor that interferes with one or more steps in a metabolic pathway.]
Focal impaired awareness cognitive seizure with hallucination HP_0032885 [A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.]
Visual agnosia HP_0030222 [The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.]