All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal IgG level | HP_0410242 | [An abnormal deviation from normal levels of IgG immunoglobulin in blood.] |
| Wrist pain | HP_0030836 | [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.] |
| Metaphyseal dysostosis | HP_0005899 | [Abnormal mineralization of the metaphyseal area of bones.] |
| Neck pain | HP_0030833 | [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.] |
| Phosphoethanolaminuria | HP_0003239 | [An increased concentration of phosphoethanolamine in the urine.] |
| Hyperphosphaturia | HP_0003109 | [An increased excretion of phosphates in the urine.] |
| Shoulder pain | HP_0030834 | [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.] |
| Severe generalized osteoporosis | HP_0005897 | [Severe degree of osteoporosis.] |
| Decreased plasma carnitine | HP_0003234 | [A decreased concentration of carnitine in the blood.] |
| Rhonchi | HP_0030831 | [Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.] |
| Decreased HDL cholesterol concentration | HP_0003233 | [An decreased concentration of high-density lipoprotein cholesterol in the blood.] |
| Vitreous strands | HP_0030832 | [Fiber- or rope-like opacities located within the vitreous humor.] |
| Radial deviation of thumb terminal phalanx | HP_0005895 | |
| Hypermethioninemia | HP_0003235 | [An increased concentration of methionine in the blood.] |
| Crackles | HP_0030830 | [Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.] |
| Double first metacarpals | HP_0005894 | [Duplication of the metacarpal I bones.] |
| Mitochondrial malic enzyme reduced | HP_0003232 | |
| Progressive forearm bowing | HP_0005891 | [Progressive bending or abnormal curvature of the forearm skeleton.] |
| Progressive bowing of long bones | HP_0006383 | [Progressive bending or abnormal curvature of a long bone.] |
| Proximal tibial and fibular fusion | HP_0005892 |