| HPO |
HP:0500154 |
Hypoalaninemia |
"A decreased amount of alanine in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0010916 |
| HPO |
HP:0500155 |
Abnormal circulating asparagine concentration |
"Any deviation from the normal concentration of asparagine in the blood circulation." [http://orcid.org/0000-0001-7941-2961] |
Asparagine is a polar, aliphatic amino acid. |
HP:0010899 |
| HPO |
HP:0500156 |
Hyperasparaginemia |
"An increased amount of asparagine in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0500155 |
| HPO |
HP:0500157 |
Hypoasparaginemia |
"A decreased amount of asparagine in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0500155 |
| HPO |
HP:0500158 |
Abnormal circulating aspartic acid concentration |
"Any deviation from the normal concentration of aspartate in the blood circulation." [ORCID:0000-0001-7941-2961] |
Aspartate is classified as an acidic amino acid. |
HP:0010899 |
| HPO |
HP:0500159 |
Increased level of circulating aspartic acid |
"An increased amount of aspartic acid in the blood." [PMID:7353275] |
— |
HP:0500158 |
| HPO |
HP:0500160 |
Abnormal circulating carnosine concentration |
"Any deviation from the normal concentration of carnosine in the blood circulation." [ORCID:0000-0001-7941-2961, PMID:20017611] |
Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine. |
HP:0004354 |
| HPO |
HP:0500161 |
Increased level of carnosine in blood |
"An increased amount of carnosine in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0500160 |
| HPO |
HP:0500162 |
Decreased level of carnosine in blood |
"A decreased amount of carnosine in bood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0500160 |
| HPO |
HP:0500163 |
Hypoornithinemia |
"An abnormal decrease in ornithine in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0012025 |
| HPO |
HP:0500164 |
Abnormal blood carbon dioxide level |
"An abnormality of carbon dioxide (CO2) in the arterial blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0012415 |
| HPO |
HP:0500165 |
Abnormal blood oxygen level |
"An abnormality of the partial pressure of oxygen in the arterial blood." [HPO:probinson] |
— |
HP:0012415 |
| HPO |
HP:0500166 |
Abnormal circulating gastrin concentration |
"An abnormal concentration of gastrin in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0003117 |
| HPO |
HP:0500167 |
Hypergastrinemia |
"An elevated amount of gastrin in the blood." [http://orcid.org/0000-0001-7941-2961] |
— |
HP:0500166 |
| HPO |
HP:0500170 |
Abnormal concentration of acylcarnitine in the urine |
"An abnormal amount of acylcarnitine in the urine." [http://orcid.org/0000-0001-7941-2961] |
Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. {xref="PMID:23258903"} |
HP:0033354 |
| HPO |
HP:0500173 |
Reflex asystolic syncope |
"A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure." [PMID:23814085] |
— |
HP:0001279 |
| HPO |
HP:0500180 |
Abnormal circulating amino sulfonic acid concentration |
— |
— |
HP:0032180 |
| HPO |
HP:0500181 |
Hypertaurinemia |
"An increased amount of taurine in the blood." [] |
— |
HP:0500180 |
| HPO |
HP:0500182 |
Hypotaurinemia |
"A decreased amount of taurine in the blood." [] |
— |
HP:0500180 |
| HPO |
HP:0500183 |
Abnormal CSF carboxylic acid concentration |
"Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid." [] |
— |
HP:0032207 |
| HPO |
HP:0500184 |
Abnormal CSF amino acid concentration |
"Any deviation from the normal concentration of amino acids in the cerebrospinal fluid." [PMID:715764] |
— |
HP:0500183 |
| HPO |
HP:0500185 |
Abnormal CSF branched chain amino acid concentration |
"Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid." [PMID:715764] |
— |
HP:0500184 |
| HPO |
HP:0500186 |
Abnormal CSF valine concentration |
"Any deviation from the normal concentration of valine in the cerebrospinal fluid." [PMID:715764] |
— |
HP:0500185 |
| HPO |
HP:0500187 |
Increased CSF valine concentration |
"Any increased amount from normal of valine in the cerebrospinal fluid." [PMID:715764] |
— |
HP:0500186 |
| HPO |
HP:0500188 |
Decreased CSF valine concentration |
"Any decreased amount from normal of valine in the cerebrospinal fluid." [PMID:715764] |
— |
HP:0500186 |