All terms in HP

Label Id Description
Absent muscle fiber gamma sarcoglycan HP_0030109 [Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.]
Abnormal muscle fiber gamma sarcoglycan HP_0030104 [Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.]
Reduced muscle fiber beta sarcoglycan HP_0030107 [Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.]
Abnormal muscle fiber beta sarcoglycan HP_0030103 [Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.]
Reduced muscle fiber gamma sarcoglycan HP_0030108 [Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.]
Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration HP_0032769 [An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.]
Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration HP_0032766 [A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.]
Focal aware autonomic seizure HP_0032740 [A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.]
Focal aware autonomic seizure with pupillary dilation/constriction HP_0032768 [A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.]
Focal autonomic seizure with pupillary dilation/constriction HP_0032763 [A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.]
Abnormal muscle fiber delta sarcoglycan HP_0030105 [Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.]
Absent muscle fiber beta sarcoglycan HP_0030106 [Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.]
Focal autonomic seizure with piloerection HP_0032767 [A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.]
Focal autonomic seizure HP_0011154 [An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.]
Bidirectional ventricular ectopy HP_0005147
Pulmonary valve defects HP_0005148 [Any defect in the valve connecting the heart and the pulmonary artery.]
Focal autonomic seizure with urge to urinate/defecate HP_0032765 [A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.]
Coronary artery stenosis HP_0005145 [Abnormal narrowing of the coronary artery.]
Cardiac valve calcification HP_0005146 [Abnormal calcification of a cardiac valve.]
Anomalous origin of right pulmonary artery from ascending aorta HP_0005143 [The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.]