| HPO |
HP:0410198 |
Decreased uridine diphosphate glucose-4-epimerase level in red blood cells |
"A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] |
— |
HP:0410196 |
| HPO |
HP:0410199 |
Increased CSF urate concentration |
"Increased concentration of urate in the cerebrospinal fluid." [] |
— |
HP:0500117 |
| HPO |
HP:0410200 |
Positive meconium barbiturate test |
"Detection of barbiturate metabolites such as phenobarbital in meconium." [] |
— |
HP:0500098 |
| HPO |
HP:0410201 |
Positive hair barbiturate test |
"Detection of barbiturate metabolites such as phenobarbital in the hair." [] |
— |
HP:0500099 |
| HPO |
HP:0410202 |
Positive stool barbiturate test |
"Detection of barbiturate metabolites such as phenobarbital in the stool." [] |
— |
HP:0500097 |
| HPO |
HP:0410203 |
Positive gastric fluid barbiturate test |
"Detection of barbiturate metabolites such as phenobarbital in the gastric fluid." [] |
— |
HP:0500101 |
| HPO |
HP:0410204 |
Increased intestinal transit time |
"An increase in the length of time required for food to pass through the intestines." [PMID:22206545] |
— |
HP:0030896 |
| HPO |
HP:0410205 |
Abnormal circulating nicotinurate concentration |
"Any deviation from the normal concentration of nicotinurate in the blood." [] |
Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. {xref="PMID:3243933"} |
HP:0004364 |
| HPO |
HP:0410206 |
Increased circulating nicotinurate level |
"An increased amount of nicotinurate in the blood." [] |
— |
HP:0410205 |
| HPO |
HP:0410207 |
Positive methadone plasma/serum test |
"Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum." [] |
Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. |
HP:0500100 |
| HPO |
HP:0410208 |
Positive plasma/serum cotinine test |
"Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum." [PMID:10027825] |
Cotinine is used as a biomarker for exposure to tobacco smoke. |
HP:0500100 |
| HPO |
HP:0410209 |
Folate deficiency in CSF |
"A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid." [PMID:15581159] |
Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system. |
HP:0012335 |
| HPO |
HP:0410210 |
Abnormal cord blood measurement |
"An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level." [PMID:7926229] |
— |
HP:0010881 |
| HPO |
HP:0410211 |
Abnormal blood gas level in cord blood |
— |
— |
HP:0410210 |
| HPO |
HP:0410212 |
Hyperoxemia in cord blood |
"An abnormally high level of blood oxygen in the cord blood." [] |
— |
HP:0500259 |
| HPO |
HP:0410213 |
Hypoxemia in cord blood |
"An abnormally low level of blood oxygen in the cord blood." [] |
— |
HP:0500259 |
| HPO |
HP:0410214 |
Hypercapnia in cord blood |
"Abnormally elevated blood carbon dioxide (CO2) level in the cord blood." [] |
— |
HP:0500258 |
| HPO |
HP:0410215 |
Hypocapnia in cord blood |
"Abnormally decreased blood carbon dioxide (CO2) level in the cord blood." [] |
— |
HP:0500258 |
| HPO |
HP:0410216 |
Abnormal blood 5-methyltetrahydrofolate level |
"An abnormal concentration of 5-methyltetrahydrofolate in the blood." [] |
— |
HP:0012335 |
| HPO |
HP:0410217 |
Reduced blood 5-methyltetrahydrofolate level |
"A decreased concentration of 5-methyltetrahydrofolate in the blood." [] |
— |
HP:0410216 |
| HPO |
HP:0410218 |
Hypoplasia of maxilla relative to mandible |
"Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw)." [https://orcid.org/0000-0001-5889-4463, https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report] |
— |
HP:0000327 |
| HPO |
HP:0410219 |
Hypoplasia of mandible relative to maxilla |
"Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw)." [https://orcid.org/0000-0001-5889-4463] |
— |
HP:0000347 |
| HPO |
HP:0410220 |
Increased anti-dairy protein IgE antibody level |
"Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products." [PMID:26433529] |
— |
HP:0410227 |
| HPO |
HP:0410221 |
Increased anti-animal protein IgE antibody level |
"Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine." [PMID:8543754] |
For animal dander annotations, there is a more specific subclass of this term. |
HP:0032336 |
| HPO |
HP:0410222 |
Increased anti-seafood IgE antibody level |
"Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone." [PMID:14719162] |
— |
HP:0410227 |