All terms in HP

Label Id Description
Rest limb pain HP_6000627 [Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.]
Nipple thickening HP_6000629 [Thickening of the skin around the nipple.]
Femoral spur HP_0031171 [A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.]
Sectoral retinitis pigmentosa HP_0031172 [A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.]
Female fetal virilization HP_0031170 [Fetal masculinization of female external genitalia.]
Nuchal rigidity HP_0031179 [Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.]
Finger flexor weakness HP_0031177 [Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.]
Fixed head retroflexion HP_0031178 [Head is bent in the posterior direction in a permanent fashion.]
Absent cervical vertebra HP_0031175 [A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.]
Absent thoracic vertebra HP_0031176 [A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.]
Tibial spur HP_0031173 [A bony projection (spur, osteophyte) originating from the tibia.]
Double-layered patella HP_0031174 [An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.]
Elevated circulating chitotriosidase activity HP_6000611 [Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis.]
Elevated erythrocyte galactose-1-phosphate concentration HP_6000610 [Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.]
Enlarged fetal lungs HP_6000613 [The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.]
Squamosal suture synostosis HP_6000612 [Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.]
Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts HP_6000615 [Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity.]
Orbital inflammation HP_6000614 [An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath.]
Reduced tissue UDP-glucuronyl-transferase activity HP_6000617 [Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues.]
Reduced muscle glycogen debrancher enzyme activity HP_6000616 [Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25).]