All terms in HP
| Label | Id | Description |
|---|---|---|
| creatine metabolic process | GO_0006600 | [The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle.] |
| cellular modified amino acid metabolic process | GO_0006575 | [The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents.] |
| Increased VLDL cholesterol concentration | HP_0003362 | [An increase in the amount of very-low-density lipoprotein cholesterol in the blood.] |
| Abnormal VLDL cholesterol concentration | HP_0031889 | [Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.] |
| Tryptophanuria | HP_0003361 | [An increased concentration of tryptophan in the urine.] |
| Sterile arthritis | HP_0040310 | [An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.] |
| Abdominal situs inversus | HP_0003363 | [A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.] |
| Abnormality of abdominal situs | HP_0011620 | [An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.] |
| Tongue edema | HP_0040315 | |
| obsolete Aplasia of the penis | HP_0040316 | |
| Blue urine | HP_0040317 | [An abnormal blue color of the urine.] |
| Red urine | HP_0040318 | [An abnormal red color of the urine.] |
| Symetrical distal arthritis | HP_0040311 | |
| Temporomandibular arthritis | HP_0040312 | |
| Oligoarthritis | HP_0040313 | |
| Blind vagina | HP_0040314 | [The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.] |
| Abnormal CSF/serum albumin ratio | HP_0030981 | [A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.] |
| Reduced brain glutamine level by MRS | HP_0030980 | [An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).] |
| Dark urine | HP_0040319 | [An abnormal dark color of the urine.] |
| Decreased CSF/serum albumin ratio | HP_0030978 | [A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.] |