All terms in HP

Label Id Description
Low-molecular-weight proteinuria HP_0003126 [Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).]
Mediastinal teratoma HP_0030741 [A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).]
Reduced factor VIII activity HP_0003125 [Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.]
Abnormal factor VIII activity HP_0030976 [A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.]
Glial remnants posterior to lens HP_0030742 [This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.]
Contractures of the large joints HP_0005781
Limb joint contracture HP_0003121 [A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.]
Absent fourth finger distal interphalangeal crease HP_0005780 [Absence of the distal interphalangeal flexion creases of the fourth finger.]
Absent distal interphalangeal creases HP_0001032 [Absence of the distal interphalangeal flexion creases of the fingers.]
Grade II preterm intraventricular hemorrhage HP_0030749 [Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.]
Anomalous muscle bundle of the right ventricle HP_0030740 [An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.]
Panhypogammaglobulinemia HP_0003139 [A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.]
Increased blood urea nitrogen HP_0003138 [An increased amount of nitrogen in the form of urea in the blood.]
Abnormal blood urea nitrogen concentration HP_0031970 [Any deviation from the normal concentration of urea nitrogen in the blood.]
Altman type I sacrococcygeal teratoma HP_0030737 [A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.]
Ureterovesical junction obstruction HP_0030735 [Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.]
Posterior radial head dislocation HP_0005798 [A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.]
Dysplastic tricuspid valve HP_0030732 [A congenital malformation of the tricuspid valve characterized by leaflet deformation.]
Vesicoallantoic abdominal wall defect HP_0030733 [An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.]
Prolinuria HP_0003137 [Level of proline in the urine anove the upper limit of normal.]