All terms in HP
| Label | Id | Description |
|---|---|---|
| Decreased methionine synthase activity | HP_0003524 | [A reduction in methionine synthase activity.] |
| Orotic acid crystalluria | HP_0003526 | [Formation of crystals owing to an increased concentration of orotic acid in the urine.] |
| Disproportionate short-trunk short stature | HP_0003521 | [A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.] |
| skeleton of left pelvic girdle | UBERON_0011091 | [A skeleton of pelvic girdle that is part of a left pelvic girdle region.] |
| left pelvic girdle region | UBERON_0011093 | [A pelvic girdle region that is in the left side of a multicellular organism.] |
| right pelvic girdle region | UBERON_0011092 | [A pelvic girdle region that is in the right side of a multicellular organism.] |
| skeleton of right pelvic girdle | UBERON_0011090 | [A skeleton of pelvic girdle that is part of a right pelvic girdle region.] |
| lacrimal nerve | UBERON_0011096 | [The lacrimal nerve is the smallest of the three branches of the ophthalmic division of the trigeminal nerve.] |
| Elevated calcitonin | HP_0003528 | |
| Hyperprostaglandinuria | HP_0003527 | [An increased concentration of prostaglandin in the urine.] |
| increased amount of liquid in a single drinking act | NBO_0000851 | |
| Parathormone-independent increased renal tubular calcium reabsorption | HP_0003529 | [An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.] |
| Reduced xanthine dehydrogenase activity | HP_0003534 | [An abnormal reduction in xanthine dehydrogenase activity.] |
| Hypouricemia | HP_0003537 | [An abnormally low level of uric acid in the blood.] |
| Decreased purine level | HP_0004369 | |
| Decreased fumarate hydratase activity | HP_0003536 | [An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.] |
| Glutaric acidemia | HP_0003530 | [An increased concentration of glutaric acid in the blood.] |
| Reduced acetaldehyde dehydrogenase activity | HP_0003533 | [Decreased activity of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.] |
| Ornithinuria | HP_0003532 | [An increased concentration of ornithine in the urine.] |
| Increased level of xylitol in CSF | HP_0410075 | [An increase in the level of xylitol in the cerebrospinal fluid.] |