All terms in HP

Label Id Description
Young adult onset HP_0011462 [Onset of disease at the age of between 16 and 40 years.]
Convergence-retraction nystagmus HP_0025711 [Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.]
transverse process of atlas UBERON_0011370 [A transverse process of vertebra that is part of a vertebral bone 1.]
sternocephalicus muscle UBERON_0011371 [The sternocephalicus is a flat muscle and its caudal border is adjacent to the ventral border of the brachiocephalicus. The lateral aspect of this muscle is crossed obliquely by the external jugular vein. It originates as a unit on the first sternebrae. The cranial portion of the muscle divides into two separate sections with different insertion points. These are the sternomastoideus and the sterno-occipitalis. The ventral portion, the sternomastiodeus is the stronger and main continuation of the sternocephalicus, which inserts on the mastoid part of the temporal bone. The thin but wide dorsal segment, the sterno-occipitalis attaches to the dorsal nuchal crest by a thin aponeurosis. The main action provided by the sternocephalicus is movement of the head and neck to the side. Ventral branches of the cervical nerves are attached to this muscle.]
prepuce UBERON_0011374 [A retractable double-layered fold of skin and mucous membrane that covers the glans penis or clitoris. Glands may also be present.]
Fetal anemia HP_0025716 [Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.]
skin of prepuce of clitoris UBERON_0011375 [A zone of skin that is part of a prepuce of clitoris.]
skin of clitoris UBERON_0005298 [A zone of skin that is part of a clitoris [Automatically generated definition].]
Skeletal muscle autophagosome accumulation HP_0025717 [Abnormal accumulation of autophagosomes in skeletal muscle tissue.]
Cerebral cortical microinfarct HP_0025714 [An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.]
male external urethral sphincter UBERON_0011379 [The external sphincter muscle of urethra (or sphincter urethrae membranaceae) surrounds the whole length of the membranous portion of the urethra, and is enclosed in the fasciæ of the urogenital diaphragm. They arch across the front of the urethra and bulbourethral glands, pass around the urethra, and behind it unite with the muscle of the opposite side, by means of a tendinous raphé.]
Asplenia HP_0001746 [Absence (aplasia) of the spleen.]
Skeletal muscle hyperechogenicity HP_0025718 [An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.]
Accessory spleen HP_0001747 [An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.]
Polysplenia HP_0001748 [Polysplenia is a congenital disease manifested by multiple small accessory spleens.]
Maternal vascular malperfusion HP_0025719 [Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.]
Distended jugular lymphatic sacs HP_0025701 [The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.]
Type 1 schizencephaly HP_0025702 [A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.]
Single ventricle HP_0001750 [The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.]
Anhydramnios HP_0025700 [A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.]