All terms in HP
| Label | Id | Description |
|---|---|---|
| Rib gap | HP_0030280 | [Radiolucent focal defect of a rib shaft.] |
| Cervical C3/C4 vertebral fusion | HP_0030281 | [Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.] |
| Flattened femoral epiphysis | HP_0030289 | [An abnormal flattening of an epiphysis of femur.] |
| Flattened epiphysis | HP_0003071 | [Abnormal flatness (decreased height) of epiphyses.] |
| Atrophic superior cerebellar peduncle | HP_0030286 | [Atrophy of the superior cerebellar peduncle.] |
| Triangular tongue | HP_0030284 | [A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.] |
| Splayed superior cerebellar peduncle | HP_0030285 | [Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.] |
| Posterior rib gap | HP_0030282 | [Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.] |
| Partial absence of the septum pellucidum | HP_0030283 | [Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.] |
| D-glucopyranose | CHEBI_4167 | [A glucopyranose having D-configuration.] |
| Hypoplastic L5 vertebral pedicle | HP_0030279 | [Underdeveloped pedicle of the fifth lumbar vertebra.] |
| Hypoplastic vertebral pedicle | HP_0030278 | [Underdeveloped vertebral pedicle.] |
| Elevated red cell adenosine deaminase activity | HP_0030270 | [Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.] |
| Abnormal erythrocyte enzyme activity | HP_0030272 | [An altered ability of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered levels of an enzyme.] |
| Abnormal vertebral pedicle morphology | HP_0030277 | [Abnormal morphology of a vertebral pedical.] |
| Ectopic scrotum | HP_0030275 | [Scrotum in a position other than the usual position inferior to the base of the penis.] |
| Small scrotum | HP_0030276 | [Apparently small scrotum for age.] |
| Reduced red cell adenosine deaminase activity | HP_0030273 | [Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.] |
| Accessory scrotum | HP_0030274 | [Additional scrotum, or part of a scrotum in an abnormal location.] |
| Reduced erythrocyte 2,3-diphosphoglycerate concentration | HP_0030271 | [This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.] |