All terms in HP

Label Id Description
Complete heart block with broad QRS complexes HP_0005170 [A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.]
Third degree atrioventricular block HP_0001709 [Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.]
Decreased CSF tyrosine concentration HP_0500221 [Abnormally decreased levels of tyrosine in cerebrospinal fluid.]
Increased CSF tryptophan concentration HP_0500222 [Abnormally increased levels of tryptophan in cerebrospinal fluid.]
Increased CSF phenylalanine concentration HP_0500223 [Abnormally increased levels of phenylalanine in cerebrospinal fluid.]
Decreased CSF serine concentration HP_0500228 [Abnormally decreased levels of serine in cerebrospinal fluid.]
Abnormal CSF serine concentration HP_0500226 [Any deviation from the normal concentration of serine in the cerebrospinal fluid.]
Migrating focal seizure HP_0032786 [A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.]
Abnormal muscle fiber lamin A/C HP_0030123 [A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.]
Reduced muscle fiber lamin A/C HP_0030124 [A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.]
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP_0032785 [A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.]
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP_0011159 [A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.]
Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP_0032784 [An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.]
Reduced muscle fiber calpain-3 HP_0030121 [Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.]
Abnormal muscle fiber calpain-3 HP_0030119 [A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.]
Reduced muscle fiber perlecan HP_0030122 [Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).]
Focal aware autonomic seizure with piloerection HP_0032783 [A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.]
Decreased CSF phenylalanine concentration HP_0500224 [Abnormally decreased levels of phenylalanine in cerebrospinal fluid.]
Focal impaired awareness autonomic seizure with lacrimation HP_0032782 [A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.]
Focal autonomic seizure with lacrimation HP_0032771 [A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.]