All terms in HP

Label Id Description
Foramen ovale aneurysm HP_0025730 [Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.]
Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity HP_0025731 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1.]
Hammertoe HP_0001765 [Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.]
Elevated urinary 5-hydroxyhexanoic acid level HP_0025734 [The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.]
Pes cavus HP_0001761 [An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).]
Streak gonad HP_0025733 [A type of gonadal dysgenesis in which the gonadal tissue is underdeveloped and appears as fibrous, streak-like structures instead of fully formed ovaries or testes.]
Talipes equinovarus HP_0001762 [Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.]
Talipes HP_0001883 [A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.]
pudendal nerve UBERON_0011390 [The pudendal nerve is a somatic nerve in the pelvic region that innervates the external genitalia of both sexes, as well as sphincters for the bladder and the rectum. It originates in Onuf's nucleus in the sacral region of the spinal cord.]
perineal nerve UBERON_0011391 [A nerve arising from the pudendal nerve that supplies the perineum.]
Ring-enhancing cerebral lesion HP_0025738 [An abnormal neuroimaging finding consisting in an area of decreased density surrounded by a bright rim from concentration of the enhancing contrast dye.]
Optic nerve mass HP_0025739 [A swelling or enlargement localized to the optic nerve. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.]
right common iliac artery UBERON_0035322
Abnormal subthalamic nucleus morphology HP_0025737 [Any structural anomaly of the subthalamic nucleus, a small lens-shaped structure located within the diencephalon near the junction with the midbrain. The subthalamic nucleus composes the majority of the subthalamus along with the subthalamic fasciculus, ansa lenticularis, and several other smaller structures.]
Broad foot HP_0001769 [A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.]
Tarsal osteovalgus HP_0001775
Abnormal talus morphology HP_0008365 [An abnormality of the talus.]
Limited horizontal extraocular movement HP_0025720 [Limited mobility of the eye to move from side to side (horizontally) within its socket.]
Bilateral talipes equinovarus HP_0001776 [Bilateral clubfoot deformity.]
Achilles tendon contracture HP_0001771 [A contracture of the Achilles tendon.]