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Add chemical phenotype update pipeline to HPO #10560

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The goal of this pipeline is to harmonise HPO terms according to patterns.

@matentzn matentzn marked this pull request as draft May 27, 2024 11:40
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github-actions bot commented Jul 4, 2024

Text definitions changed: 239
Term Old Text Definition New Text Definition
Increased level of cystathionine in urine (HP:0003153) An elevated urinary concentration of cystathionine. An elevated urinary concentration of cystathionine.
Increased level of tryptophan in urine (HP:0003361) An increased concentration of tryptophan in the urine. An increase in the level of tryptophan in urine.
Increased level of lysine in urine (HP:0003297) An increased concentration of lysine in the urine. An increase in the level of lysine in urine.
Increased level of uric acid in blood (HP:0002149) An abnormally high level of uric acid in the blood. An abnormally high level of uric acid in the blood.
Decreased level of heparan sulfate in blood (HP:0410343) An abnormal decrease in the concentration of heparan sulfate in the blood. A decrease in the level of heparan sulfate in blood.
Decreased level of trans-4-hydroxy-L-proline in blood (HP:0500140) A decreased amount of hydroxyproline in the blood. A decrease in the level of trans-4-hydroxy-L-proline in blood.
Abnormal blood glucocorticoid level (HP:0012111) An abnormality of the concentration of a glucocorticoid in the blood. An abnormal level of glucocorticoid in the blood.
Abnormal blood insulin gene translation product level (HP:0040214) An abnormal concentration of insulin in the body. An abnormal concentration of insulin in the body.
Abnormal cerebrospinal fluid serine family amino acid level (HP:0500225) Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. An abnormal level of serine family amino acid in the cerebrospinal fluid.
Decreased level of iron in blood (HP:0040303) The concentration of iron in the blood circulation is below the lower limit of normal. A decrease in the level of iron in blood.
Abnormal urine sebacic acid level (HP:0500251) Abnormal concentration of sebacic acid in the urine. Abnormal concentration of sebacic acid in the urine.
Decreased level of valine in blood (HP:0500132) A decreased amount of valine in the blood. A decrease in the level of valine in blood.
Abnormal blood carnitine level (HP:0010967) Any deviation from the normal concentration of carnitine in the blood circulation. An abnormal level of carnitine in the blood.
Abnormal urine chloride level (HP:0012600) An abnormal concentration of chloride in the urine. An abnormal concentration of chloride in the urine.
Increased level of protein in blood (HP:0002152) An increased concentration of proteins in the blood. An increase in the level of protein in blood.
Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) Abnormally increased serum levels of alkaline phosphatase activity. Abnormally increased serum levels of alkaline phosphatase activity.
Abnormal urine 3-methylhistidine level (HP:0410316) Abnormal amount of 3-methylhistidine in the urine. Abnormal amount of 3-methylhistidine in the urine.
Increased level of dopamine in cerebrospinal fluid (HP:0012655) Increased concentration of dopamine in the cerebrospinal fluid (CSF). An increase in the level of dopamine in cerebrospinal fluid.
Decreased level of isoleucine in blood (HP:0500144) A decreased amount of isoleucine in the blood. A decrease in the level of isoleucine in blood.
Increased level of lipoprotein cholesterol in blood (HP:0010980) An abnormal increase in the level of lipoprotein cholesterol in the blood. An abnormal increase in the level of lipoprotein cholesterol in the blood.
Increased level of neopterins in cerebrospinal fluid (HP:0040204) Increased concentration of neopterin in the cerebrospinal fluid (CSF). An increase in the level of neopterins in cerebrospinal fluid.
Decreased level of threonine in blood (HP:0500136) A decreased amount of threonine in the blood. A decrease in the level of threonine in blood.
Decreased level of high-density lipoprotein cholesterol in blood (HP:0003233) An decreased concentration of high-density lipoprotein cholesterol in the blood. A decrease in the level of high-density lipoprotein cholesterol in blood.
Increased level of 3-aminoisobutyric acid in urine (HP:0045034) An increased amount of 3-aminoisobutyric acid in the urine. An increase in the level of 3-aminoisobutyric acid in urine.
Increased level of chondroitin sulfate in urine (HP:0012070) An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. An increase in the level of chondroitin sulfate in urine.
Decreased level of adiponectin (human) in blood (HP:0030685) A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. A decrease in the level of adiponectin (human) in blood.
Abnormal cerebrospinal fluid amino acid level (HP:0500184) Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. An abnormal level of amino acid in the cerebrospinal fluid.
Increased level of corticotropin in blood (HP:0003154) An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Decreased level of cobamamide in blood (HP:0003145) The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. A decrease in the level of cobamamide in blood.
Increased level of triglyceride in blood (HP:0002155) An abnormal increase in the level of triglycerides in the blood. An abnormal increase in the level of triglycerides in the blood.
Decreased level of threonine in cerebrospinal fluid (HP:0500213) Abnormally decreased levels of threonine in cerebrospinal fluid. A decrease in the level of threonine in cerebrospinal fluid.
Abnormal cerebrospinal fluid dopamine level (HP:0012654) Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).
Decreased level of lysine in blood (HP:0500142) A decreased amount of lysine in the blood. A decrease in the level of lysine in blood.
Increased level of homocarnosine in cerebrospinal fluid (HP:0500242) Abnormally increased levels of homocarnosine in cerebrospinal fluid. Abnormally increased levels of homocarnosine in cerebrospinal fluid.
Increased level of serotonin in blood (HP:0003144) A increased concentration of serotonin in the blood. A increased concentration of serotonin in the blood.
Decreased level of hydrogencarbonate in urine (HP:0045011) Abnormally decreased concentration of hydrogencarbonate in the urine. A decrease in the level of hydrogencarbonate in urine.
Increased level of chloride in urine (HP:0002914) An increased concentration of chloride in the urine. An increase in the level of chloride in urine.
Increased level of ethylmalonic acid in urine (HP:0003219) The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. An increase in the level of ethylmalonic acid in urine.
Increased level of urate salt in cerebrospinal fluid (HP:0410199) Increased concentration of urate in the cerebrospinal fluid. An increase in the level of urate salt in cerebrospinal fluid.
Increased level of sodium in blood (HP:0003228) An abnormally increased sodium concentration in the blood. An abnormally increased sodium concentration in the blood.
Abnormal blood carbon dioxide level (HP:0500258) Abnormal amount of carbon dioxide in umbilical cord blood Abnormal amount of carbon dioxide in umbilical cord blood
Increased level of uracil in urine (HP:0012127) Increased concentration of uracil in the urine. An increase in the level of uracil in urine.
Increased level of histidine in cerebrospinal fluid (HP:0500236) Abnormally increased levels of histidine in cerebrospinal fluid. Abnormally increased levels of histidine in cerebrospinal fluid.
Decreased level of carbon dioxide in umbilical cord blood (HP:0410215) Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. A decrease in the level of carbon dioxide in umbilical cord blood.
Increased level of phosphoethanolamine in urine (HP:0003239) An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine. An increase in the level of phosphoethanolamine in urine.
Increased level of testosterone in blood (HP:0030088) An elevated circulating testosterone level in the blood. An elevated circulating testosterone level in the blood.
Abnormal blood L-asparagine level (HP:0500155) Any deviation from the normal concentration of asparagine in the blood circulation. An abnormal level of L-asparagine in the blood.
Decreased level of biopterins in cerebrospinal fluid (HP:0040209) Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal. A decrease in the level of biopterins in cerebrospinal fluid.
Decreased level of tyrosine in cerebrospinal fluid (HP:0500220) Abnormally increased levels of tyrosine in cerebrospinal fluid. A decrease in the level of tyrosine in cerebrospinal fluid.
Increased level of tyrosine in cerebrospinal fluid (HP:0500221) Abnormally decreased levels of tyrosine in cerebrospinal fluid. Abnormally decreased levels of tyrosine in cerebrospinal fluid.
Increased level of lysine in cerebrospinal fluid (HP:0500208) Abnormally increased levels of lysine in cerebrospinal fluid. Abnormally increased levels of lysine in cerebrospinal fluid.
Increased level of uric acid in urine (HP:0003149) An abnormally high level of uric acid in the urine. An abnormally high level of uric acid in the urine.
Increased level of ribitol in cerebrospinal fluid (HP:0410071) The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of ribitol in cerebrospinal fluid.
Abnormal cerebrospinal fluid ornithine level (HP:0500243) Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. An abnormal level of ornithine in the cerebrospinal fluid.
Increased level of glucose in urine (HP:0003076) An increased concentration of glucose in the urine. An increase in the level of glucose in urine.
Abnormal blood creatinine level (HP:0012100) An abnormal concentration of creatinine in the blood. An abnormal concentration of creatinine in the blood.
Increased level of methionine in cerebrospinal fluid (HP:0500210) Concentration of methionine in the cerebrospinal fluid above the upper limit of normal. An increase in the level of methionine in cerebrospinal fluid.
Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) Any increased amount from normal of valine in the cerebrospinal fluid. An increase in the level of carboxylic acid in cerebrospinal fluid.
Increased level of high-density lipoprotein cholesterol in blood (HP:0012184) An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
Increased level of lysine in blood (HP:0002161) An increased concentration of lysine in the blood. An increase in the level of lysine in blood.
Increased level of porphyrins in urine (HP:0010473) Abnormally increased excretion of porphyrins in the urine. Abnormally increased excretion of porphyrins in the urine.
Increased level of urea in blood (HP:0003138) An increased amount of nitrogen in the form of urea in the blood. An increase in the level of urea in blood.
Decreased level of neopterins in cerebrospinal fluid (HP:0040205) Decreased concentration of neopterin in the cerebrospinal fluid (CSF). A decrease in the level of neopterins in cerebrospinal fluid.
Abnormal urine sulfate level (HP:0012612) Abnormal concentration of sulfate in the urine. Abnormal concentration of sulfate in the urine.
Abnormal blood corticosterone level (HP:0012112) An abnormality of the concentration of corticosterone in the blood. An abnormal level of corticosterone in the blood.
Abnormal cerebrospinal fluid citrulline level (HP:0500245) Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. An abnormal level of citrulline in the cerebrospinal fluid.
Increased level of methylmalonic acid in urine (HP:0012120) Increased concentration of methylmalonic acid in the urine. An increase in the level of methylmalonic acid in urine.
Increased level of leucine in cerebrospinal fluid (HP:0500191) Abnormally increased levels of leucine in cerebrospinal fluid. Abnormally increased levels of leucine in cerebrospinal fluid.
Increased level of ornithine in cerebrospinal fluid (HP:0500244) Abnormally increased levels of ornithine in cerebrospinal fluid. Abnormally increased levels of ornithine in cerebrospinal fluid.
Increased level of (R)-2-hydroxyglutaric acid in urine (HP:0012321) An increased concentration of 2-hydroxyglutaric acid in the urine. An increase in the level of (R)-2-hydroxyglutaric acid in urine.
Decreased level of tyrosine in blood (HP:0500133) An decreased concentration of tyrosine in the blood. A decrease in the level of tyrosine in blood.
Increased level of ornithine in urine (HP:0003532) Level of ornithine in the urine above the upper limit of normal. An increase in the level of ornithine in urine.
Increased level of heparan sulfate in urine (HP:0002159) An increased concentration of heparan sulfates in the urine. An increase in the level of heparan sulfate in urine.
Increased level of sebacic acid in urine (HP:0500252) Elevated concentration of sebacic acid in the urine. An increase in the level of sebacic acid in urine.
Decreased level of alanine in blood (HP:0500154) A decreased amount of alanine in the blood. A decrease in the level of alanine in blood.
Decreased level of glucose-6-phosphate 1-dehydrogenase in tissue (HP:0410187) A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. A decrease in the level of glucose-6-phosphate 1-dehydrogenase in tissue.
Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) An increased concentration of hydroxyproline in the blood. An increase in the level of trans-4-hydroxy-L-proline in blood.
Increased level of serine in cerebrospinal fluid (HP:0500227) Abnormally increased levels of serine in cerebrospinal fluid. Abnormally increased levels of serine in cerebrospinal fluid.
Abnormal cerebrospinal fluid glutamic acid level (HP:0500199) Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. An abnormal level of glutamic acid in the cerebrospinal fluid.
Increased level of leucine in blood (HP:0010911) An increased concentration of leucine in the blood. An increase in the level of leucine in blood.
Increased level of galactonate in blood (HP:0410063) An increase in the level of galactonate in the red blood cells. An increase in the level of galactonate in blood.
Abnormal urine N-acylglycine level (HP:0012073) An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.
Abnormal blood L-aspartic acid level (HP:0500158) Any deviation from the normal concentration of aspartate in the blood circulation. An abnormal level of L-aspartic acid in the blood.
Increased level of ribose in cerebrospinal fluid (HP:0410073) The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of ribose in cerebrospinal fluid.
Decreased level of alanine in cerebrospinal fluid (HP:0500233) Abnormally increased levels of alanine in cerebrospinal fluid. A decrease in the level of alanine in cerebrospinal fluid.
Increased level of sulfate in urine (HP:0012613) Elevated concentration of SO4(2-), i.e., sulfate, in the urine. An increase in the level of sulfate in urine.
Abnormal urine hydrogencarbonate level (HP:0011279) An abnormal amount of hydrogencarbonate in the urine. An abnormal amount of hydrogencarbonate in the urine.
Abnormal cerebrospinal fluid homocarnosine level (HP:0500241) Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. An abnormal level of homocarnosine in the cerebrospinal fluid.
Increased level of copper in urine (HP:0010839) An increased concentration of copper in the urine. An increase in the level of copper in urine.
Increased level of potassium in blood (HP:0002153) An abnormally increased potassium concentration in the blood. An abnormally increased potassium concentration in the blood.
Increased level of ethanolamines in blood (HP:0500250) Abnormally increased levels of ethanolamine in circulation. Abnormally increased levels of ethanolamine in circulation.
Increased level of gamma-aminobutyric acid in urine (HP:0500253) Elevated concentration of gamma-aminobutyric acid in the urine. An increase in the level of gamma-aminobutyric acid in urine.
Abnormal cerebrospinal fluid carnosine level (HP:0500240) Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. An abnormal level of carnosine in the cerebrospinal fluid.
Abnormal urine 2-oxoglutaric acid level (HP:0012401) A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.
Decreased level of glucose-6-phosphate isomerase in blood (HP:0003568) A decreased level of glucose-6-phosphate isomerase. A decrease in the level of glucose-6-phosphate isomerase in blood.
Decreased level of alanine in cerebrospinal fluid (HP:0500234) Abnormally decreased levels of alanine in cerebrospinal fluid. A decrease in the level of alanine in cerebrospinal fluid.
Decreased level of potassium in urine (HP:0012364) A decreased concentration of potassium(1+) in the urine. A decrease in the level of potassium in urine.
Increased level of threonine in cerebrospinal fluid (HP:0500212) Abnormally increased levels of threonine in cerebrospinal fluid. Abnormally increased levels of threonine in cerebrospinal fluid.
Increased level of biopterins in cerebrospinal fluid (HP:0040208) Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. An increase in the level of biopterins in cerebrospinal fluid.
Increased level of nitrogen in blood (HP:0002157) An increased concentration of nitrogen compounds in the blood. An increase in the level of nitrogen in blood.
Decreased level of magnesium in blood (HP:0002917) An abnormally decreased magnesium concentration in the blood. A decrease in the level of magnesium in blood.
Decreased level of leucine in blood (HP:0500143) Decreased amount of leucine in the blood. A decrease in the level of leucine in blood.
Increased level of cortisol in blood (HP:0003118) Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. An increase in the level of cortisol in blood.
Abnormal blood 3,3',5-triiodo-L-thyronine level (HP:0032209) A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.
Decreased level of sulfate in urine (HP:0003359) Decreased concentration of sulfate in the urine. A decrease in the level of sulfate in urine.
Increased level of alpha-aminobutyrate in cerebrospinal fluid (HP:0500248) Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal. An increase in the level of alpha-aminobutyrate in cerebrospinal fluid.
Increased level of gastrin in blood (HP:0500167) An elevated amount of gastrin in the blood. An elevated amount of gastrin in the blood.
Increased level of isoleucine in cerebrospinal fluid (HP:0500193) Abnormally increased levels of isoleucine in cerebrospinal fluid. Abnormally increased levels of isoleucine in cerebrospinal fluid.
Increased level of proline in urine (HP:0003137) Level of proline in the urine anove the upper limit of normal. An increase in the level of proline in urine.
Increased level of intestinal alkaline phosphatase in blood (HP:0010681) An abnormally increased level of alkaline phosphatase, intestinal type in the blood. An abnormally increased level of alkaline phosphatase, intestinal type in the blood.
Increased level of D-threitol in cerebrospinal fluid (HP:0410058) The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of D-threitol in cerebrospinal fluid.
Decreased level of hypoxanthine in urine (HP:0040426) The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal. A decrease in the level of hypoxanthine in urine.
Abnormal cerebrospinal fluid alanine level (HP:0500232) Any deviation from the normal concentration of alanine in the cerebrospinal fluid. An abnormal level of alanine in the cerebrospinal fluid.
Increased level of gamma-aminobutyric acid in blood (HP:0410053) An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.
Decreased level of leucine in cerebrospinal fluid (HP:0500190) Abnormally decreased levels of leucine in the cerebrospinal fluid. A decrease in the level of leucine in cerebrospinal fluid.
Decreased level of tryptophan in blood (HP:0500135) A decreased amount of tryptophan in the blood. A decrease in the level of tryptophan in blood.
Increased level of hemoglobin in urine (HP:0003641) The presence of free hemoglobin in the urine. An increase in the level of hemoglobin in urine.
Increased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410197) An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. An increase in the level of UDP-glucose 4-epimerase in erythrocyte.
Increased level of tyrosine in blood (HP:0003231) An increased concentration of tyrosine in the blood. An increase in the level of tyrosine in blood.
Decreased level of purines in urine (HP:0004369) Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. A decrease in the level of purines in urine.
Abnormal blood very-low-density lipoprotein cholesterol level (HP:0031889) Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. An abnormal level of very-low-density lipoprotein cholesterol in the blood.
Abnormal cerebrospinal fluid albumin level (HP:0500238) Any deviation from the normal concentration of albumin in the cerebrospinal fluid. An abnormal level of albumin in the cerebrospinal fluid.
Increased level of oxalate in urine (HP:0003159) Increased excretion of oxalates in the urine. An increase in the level of oxalate in urine.
Decreased level of cystine in blood (HP:0500152) A decreased amount of cystine in the blood. A decrease in the level of cystine in blood.
Increased level of arginine in cerebrospinal fluid (HP:0500203) Abnormally increased levels of arginine in cerebrospinal fluid. Abnormally increased levels of arginine in cerebrospinal fluid.
Abnormal cerebrospinal fluid pyruvate family amino acid level (HP:0500231) Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. An abnormal level of pyruvate family amino acid in the cerebrospinal fluid.
Decreased level of glutamine in cerebrospinal fluid (HP:0500198) Abnormally decreased levels of glutamine in cerebrospinal fluid. A decrease in the level of glutamine in cerebrospinal fluid.
Increased level of very-low-density lipoprotein cholesterol in blood (HP:0003362) An increase in the amount of very-low-density lipoprotein cholesterol in the blood. An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
Decreased level of dopamine in cerebrospinal fluid (HP:0012656) Decreased concentration of dopamine in the cerebrospinal fluid (CSF). A decrease in the level of dopamine in cerebrospinal fluid.
Abnormal cerebrospinal fluid alpha-aminobutyrate level (HP:0500247) Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. An abnormal level of alpha-aminobutyrate in the cerebrospinal fluid.
Increased level of zinc in blood (HP:0011424) An increased concentration of zinc in the blood. An increase in the level of zinc in blood.
Increased level of glycine in cerebrospinal fluid (HP:0500230) Abnormally increased levels of glycine in cerebrospinal fluid. Abnormally increased levels of glycine in cerebrospinal fluid.
Decreased level of histidine in blood (HP:0500145) A decreased amount of histidine in the blood. A decrease in the level of histidine in blood.
Decreased level of glutamic acid in cerebrospinal fluid (HP:0500201) Abnormally decreased levels of glutamic acid in cerebrospinal fluid. A decrease in the level of glutamic acid in cerebrospinal fluid.
Decreased level of isoleucine in cerebrospinal fluid (HP:0500194) Abnormally decreased levels of isoleucine in cerebrospinal fluid. A decrease in the level of isoleucine in cerebrospinal fluid.
Abnormal cerebrospinal fluid biopterins level (HP:0040207) Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).
Increased level of phenylalanine in cerebrospinal fluid (HP:0500223) Abnormally increased levels of phenylalanine in cerebrospinal fluid. Abnormally increased levels of phenylalanine in cerebrospinal fluid.
Decreased level of bile acid in blood (HP:0030985) A reduction in the concentration of bile acid in the blood. A decrease in the level of bile acid in blood.
Decreased level of creatinine in blood (HP:0012101) An abnormally reduced amount of creatinine in the blood. A decrease in the level of creatinine in blood.
Increased level of 4-hydroxy-L-proline in urine (HP:0003080) An increased concentration of 4-hydroxy-L-proline in the urine. An increase in the level of 4-hydroxy-L-proline in urine.
Decreased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410198) 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. A decrease in the level of UDP-glucose 4-epimerase in erythrocyte.
Decreased level of copper in blood (HP:0011967) A reduced concentration of copper in the blood. A decrease in the level of copper in blood.
Abnormal cerebrospinal fluid isoleucine level (HP:0500192) Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. An abnormal level of isoleucine in the cerebrospinal fluid.
Abnormal blood carbon dioxide level (HP:0500164) An abnormality of carbon dioxide (CO2) in the arterial blood. An abnormal level of carbon dioxide in the blood.
Abnormal cerebrospinal fluid threonine level (HP:0500211) Any deviation from the normal concentration of threonine in the cerebrospinal fluid. An abnormal level of threonine in the cerebrospinal fluid.
Increased level of tryptophan in cerebrospinal fluid (HP:0500222) Abnormally increased levels of tryptophan in cerebrospinal fluid. Abnormally increased levels of tryptophan in cerebrospinal fluid.
Decreased level of lysine in cerebrospinal fluid (HP:0500207) Abnormally decreased levels of lysine in cerebrospinal fluid. A decrease in the level of lysine in cerebrospinal fluid.
Increased level of L-aspartic acid in blood (HP:0500159) An increased concentration of aspartic acid in the blood circulation. An increase in the level of L-aspartic acid in blood.
Increased level of iron in blood (HP:0003452) The concentration of iron in the blood circulation is above the upper limit of normal. An increase in the level of iron in blood.
Decreased level of erythritol in cerebrospinal fluid (HP:0410056) Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. A decrease in the level of erythritol in cerebrospinal fluid.
Abnormal cerebrospinal fluid tyrosine level (HP:0500219) Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. An abnormal level of tyrosine in the cerebrospinal fluid.
Abnormal blood dioxygen level (HP:0500259) An abnormal level of blood oxygen in the cord blood. An abnormal level of blood oxygen in the cord blood.
Abnormal cerebrospinal fluid glycine level (HP:0500229) Any deviation from the normal concentration of glycine in the cerebrospinal fluid. An abnormal level of glycine in the cerebrospinal fluid.
Decreased level of 1-methylhistidine in urine (HP:0410314) Decreased concentration of 1-methylhistidine in the urine. A decrease in the level of 1-methylhistidine in urine.
Increased level of glutaric acid in urine (HP:0003150) The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. An increase in the level of glutaric acid in urine.
Abnormal cerebrospinal fluid phenylalanine level (HP:0500215) Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. An abnormal level of phenylalanine in the cerebrospinal fluid.
Increased level of tryptophan in blood (HP:0500134) An increased amount of tryptophan in the blood. An increase in the level of tryptophan in blood.
Decreased level of arginine in cerebrospinal fluid (HP:0500204) Abnormally decreased levels of arginine in cerebrospinal fluid. A decrease in the level of arginine in cerebrospinal fluid.
Abnormal cerebrospinal fluid branched-chain amino acid level (HP:0500185) Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. An abnormal level of branched-chain amino acid in the cerebrospinal fluid.
Decreased level of carnosine in blood (HP:0500162) A decreased amount of carnosine in blood. A decrease in the level of carnosine in blood.
Increased level of 1-methylhistidine in urine (HP:0410315) Increased concentration of 1-methylhistidine in the urine. An increase in the level of 1-methylhistidine in urine.
Decreased level of alpha-fetoprotein in blood (HP:0045057) Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal. A decrease in the level of alpha-fetoprotein in blood.
Decreased level of dioxygen in blood (HP:0012418) An abnormally low level of blood oxygen. A decrease in the level of dioxygen in blood.
Increased level of galactitol in blood (HP:0410064) An increase in the level of galactitol in the red blood cells. An increase in the level of galactitol in blood.
Increased level of hexacosanoic acid in blood (HP:0034298) Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation. An increase in the level of hexacosanoic acid in blood.
Increased level of threonine in urine (HP:0003296) An increased concentration of threonine in the urine. An increase in the level of threonine in urine.
Decreased level of phenylalanine-4-hydroxylase in blood (HP:0005982) A reduction in phenylalanine 4-monooxygenase level. A decrease in the level of phenylalanine-4-hydroxylase in blood.
Increased level of 3-methylhistidine in urine (HP:0410317) Increased concentration of 3-methylhistidine in the urine. An increase in the level of 3-methylhistidine in urine.
Abnormal cerebrospinal fluid urate salt level (HP:0500117) Abnormal concentration of urate in the cerebrospinal fluid (CSF). Abnormal concentration of urate in the cerebrospinal fluid (CSF).
Decreased level of gamma-aminobutyric acid in blood (HP:0410054) A decrease in the level of GABA in the serum. A decrease in the level of GABA in the serum.
Increased level of arginine in urine (HP:0003268) A increased concentration of arginine in the urine. A increased concentration of arginine in the urine.
Decreased level of chloride in blood (HP:0003113) An abnormally decreased chloride concentration in the blood. A decrease in the level of chloride in blood.
Increased level of serine in blood (HP:0500138) An increased amount of serine in the blood. An increase in the level of serine in blood.
Abnormal cerebrospinal fluid aromatic amino acid level (HP:0500214) Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. An abnormal level of aromatic amino acid in the cerebrospinal fluid.
Increased level of ketone in urine (HP:0002919) High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. An increase in the level of ketone in urine.
Decreased level of proline in blood (HP:0500139) A decreased amount of proline in the blood. A decrease in the level of proline in blood.
Abnormal cerebrospinal fluid lysine level (HP:0500206) Any deviation from the normal concentration of lysine in the cerebrospinal fluid. An abnormal level of lysine in the cerebrospinal fluid.
Abnormal cerebrospinal fluid serine level (HP:0500226) Any deviation from the normal concentration of serine in the cerebrospinal fluid. An abnormal level of serine in the cerebrospinal fluid.
Increased level of carboxylic acid in urine (HP:0040156) An increased amount of carboxylic acid in the urine. An increase in the level of carboxylic acid in urine.
Decreased level of phenylalanine in cerebrospinal fluid (HP:0500224) Abnormally decreased levels of phenylalanine in cerebrospinal fluid. A decrease in the level of phenylalanine in cerebrospinal fluid.
Increased level of methionine in blood (HP:0003235) An increased concentration of methionine in the blood. An increase in the level of methionine in blood.
Decreased level of ammonia in blood (HP:0100493) A decreased concentration of ammonia in the blood. A decrease in the level of ammonia in blood.
Increased level of adrenaline in urine (HP:0003639) The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. An increase in the level of adrenaline in urine.
Decreased level of carbon dioxide in blood (HP:0012417) Abnormally reduced blood carbon dioxide (CO2) level. A decrease in the level of carbon dioxide in blood.
Increased level of glycerol in urine (HP:0040301) An increased concentration of glycerol in the urine. An increase in the level of glycerol in urine.
Increased level of protein in cerebrospinal fluid (HP:0002922) Increased concentration of protein in the cerebrospinal fluid. An increase in the level of protein in cerebrospinal fluid.
Increased level of hypoxanthine in urine (HP:0011814) The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. An increase in the level of hypoxanthine in urine.
Abnormal cerebrospinal fluid histidine level (HP:0500235) Any deviation from the normal concentration of histidine in the cerebrospinal fluid. An abnormal level of histidine in the cerebrospinal fluid.
Decreased level of methylcobalamin in blood (HP:0003223) The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. A decrease in the level of methylcobalamin in blood.
Increased level of cortisol in urine (HP:0012030) Abnormally increased concentration of cortisol in the urine. Abnormally increased concentration of cortisol in the urine.
Increased level of protoporphyrins in blood (HP:0012187) Concentration of protoporphyrins in erythrocytes above the upper limit of normal. An increase in the level of protoporphyrins in blood.
Increased level of heparan sulfate in blood (HP:0410342) An abnormal increase in the concentration of heparan sulfate in the blood. An abnormal increase in the concentration of heparan sulfate in the blood.
Decreased level of serine in cerebrospinal fluid (HP:0500228) Abnormally decreased levels of serine in cerebrospinal fluid. A decrease in the level of serine in cerebrospinal fluid.
Decreased level of corticosterone in blood (HP:0032363) An abnormally reduced concentration of corticosterone in the blood. A decrease in the level of corticosterone in blood.
Increased level of histidine in urine (HP:0002927) An increased concentration of histidine in the urine. An increase in the level of histidine in urine.
Abnormal blood iron cation level (HP:0011031) An abnormality of the homeostasis (concentration) of iron cation. An abnormal level of iron cation in the blood.
Increased level of carnosine in blood (HP:0500161) Concentration of carnosine in the blood circulation above normal limits. An increase in the level of carnosine in blood.
Decreased level of triglyceride in blood (HP:0012153) An decrease in the level of triglycerides in the blood. A decrease in the level of triglyceride in blood.
Increased level of alkaline phosphatase, placental type in blood (HP:0010682) An abnormally increased level of alkaline phosphatase, placental type in the blood. An abnormally increased level of alkaline phosphatase, placental type in the blood.
Decreased level of UDP-glucose 4-epimerase in blood (HP:0410195) A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. A decrease in the level of UDP-glucose 4-epimerase in blood.
Increased level of dopamine in urine (HP:0011979) The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. An increase in the level of dopamine in urine.
Increased level of carnosine in urine (HP:0003167) An increased concentration of carnosine in the urine. An increase in the level of carnosine in urine.
Abnormal urine sodium level (HP:0012603) An abnormal concentration of sodium in the urine. An abnormal concentration of sodium in the urine.
Increased level of galactitol in blood (HP:0410061) An increase in the level of galactitol in the plasma. An increase in the level of galactitol in blood.
Increased level of 3-methylglutaric acid in urine (HP:0003344) An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.
Abnormal blood UDP-glucose 4-epimerase level (HP:0410193) An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. An abnormal level of UDP-glucose 4-epimerase in the blood.
Increased level of arginine in blood (HP:0500153) An increased amount of arginine levels in the blood. An increase in the level of arginine in blood.
Decreased level of 3-methylhistidine in urine (HP:0410318) Decreased concentration of 3-methylhistidine in the urine. A decrease in the level of 3-methylhistidine in urine.
Decreased level of lactate in cerebrospinal fluid (HP:0030086) Decreased concentration of lactate in the cerebrospinal fluid. A decrease in the level of lactate in cerebrospinal fluid.
Increased level of citrulline in cerebrospinal fluid (HP:0500246) Abnormally increased levels of citrulline in cerebrospinal fluid. Abnormally increased levels of citrulline in cerebrospinal fluid.
Decreased level of vitamin E in blood (HP:0100513) A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. A decrease in the level of vitamin E in blood.
Decreased level of ornithine in blood (HP:0500163) An abnormal decrease in ornithine in the blood. A decrease in the level of ornithine in blood.
Increased level of UDP-glucose 4-epimerase in blood (HP:0410194) An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. An increase in the level of UDP-glucose 4-epimerase in blood.
Increased level of galactose in urine (HP:0012023) Elevated concentration of galactose in the urine. An increase in the level of galactose in urine.
Increased level of glycopeptide in urine (HP:0012067) Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. An increase in the level of glycopeptide in urine.
Decreased level of lipoprotein cholesterol in blood (HP:0010981) An abnormal decrease in the level of lipoprotein cholesterol in the blood. A decrease in the level of lipoprotein cholesterol in blood.
Increased level of glutamine in cerebrospinal fluid (HP:0500197) Abnormally increased levels of glutamine in cerebrospinal fluid. Abnormally increased levels of glutamine in cerebrospinal fluid.
Decreased level of carnitine in blood (HP:0003234) Concentration of carnitine in the blood circulation below the lower limit of normal. A decrease in the level of carnitine in blood.
Abnormal cerebrospinal fluid aspartate family amino acid level (HP:0500205) Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. An abnormal level of aspartate family amino acid in the cerebrospinal fluid.
Decreased level of histidine in cerebrospinal fluid (HP:0500237) Abnormally decreased levels of histidine in cerebrospinal fluid. A decrease in the level of histidine in cerebrospinal fluid.
Increased level of xylitol in cerebrospinal fluid (HP:0410075) The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. An increase in the level of xylitol in cerebrospinal fluid.
Increased level of D-threitol in blood (HP:0410057) An increase in the level of D-threitol in the plasma. An increase in the level of D-threitol in blood.
Decreased level of glutamine in blood (HP:0500147) Decreased amount of glutamine in the blood. A decrease in the level of glutamine in blood.
Increased level of hydrogencarbonate in urine (HP:0003646) Abnormally increased concentration of hydrogencarbonate in the urine. Abnormally increased concentration of hydrogencarbonate in the urine.
Abnormal cerebrospinal fluid carboxylic acid level (HP:0500183) Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. An abnormal level of carboxylic acid in the cerebrospinal fluid.
Increased level of 5-aminolevulinic acid in urine (HP:0003163) An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. An increase in the level of 5-aminolevulinic acid in urine.
Decreased level of leptin in blood (HP:0003292) A decreased concentration of leptin in the blood. A decrease in the level of leptin in blood.
Increased level of iduronate 2-sulfatase in blood (HP:0003538) An increased level of iduronate-2-sulfatase activity in the blood. An increase in the level of iduronate 2-sulfatase in blood.
Increased level of noradrenaline in urine (HP:0003345) The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. An increase in the level of noradrenaline in urine.
Increased level of albumin in blood (HP:0012117) Elevation in the concentration of albumin in the blood. An increase in the level of albumin in blood.
Decreased level of chloride in urine (HP:0012601) An decreased concentration of chloride in the urine. A decrease in the level of chloride in urine.
Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Abnormal cerebrospinal fluid methionine level (HP:0500209) Any deviation from the normal concentration of methionine in the cerebrospinal fluid. An abnormal level of methionine in the cerebrospinal fluid.
Abnormal cerebrospinal fluid glutamine family amino acid level (HP:0500195) Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. An abnormal level of glutamine family amino acid in the cerebrospinal fluid.
Abnormal cerebrospinal fluid glutamine level (HP:0500196) Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. An abnormal level of glutamine in the cerebrospinal fluid.
Abnormal cerebrospinal fluid valine level (HP:0500186) Any deviation from the normal concentration of valine in the cerebrospinal fluid. An abnormal level of valine in the cerebrospinal fluid.
Decreased level of albumin in cerebrospinal fluid (HP:0025458) CSF albumin level is below the lower limit of normal. A decrease in the level of albumin in cerebrospinal fluid.
Abnormal blood alanine level (HP:0010916) An abnormality of an alanine metabolic process. An abnormal level of alanine in the blood.
Abnormal blood biopterins level (HP:0040210) A deviation from the normal concentration of biopterin in the blood circulation. A deviation from the normal concentration of biopterin in the blood circulation.
Relationships added: 177
Subject Predicate Object
Abnormal circulating glutamine concentration (HP:0010903) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Decreased level of phenylalanine in cerebrospinal fluid (HP:0500224) subClassOf (rdfs:subClassOf) Decreased CSF valine concentration (HP:0500188)
Increased level of cortisol in blood (HP:0003118) subClassOf (rdfs:subClassOf) Hyperlipidemia (HP:0003077)
Decreased level of tyrosine in cerebrospinal fluid (HP:0500220) subClassOf (rdfs:subClassOf) Decreased CSF valine concentration (HP:0500188)
Decreased level of ammonia in blood (HP:0100493) subClassOf (rdfs:subClassOf) Abnormal blood gas level (HP:0012415)
Abnormal blood potassium concentration (HP:0011042) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Increased level of 5-aminolevulinic acid in urine (HP:0003163) subClassOf (rdfs:subClassOf) Aminoaciduria (HP:0003355)
Increased level of corticotropin in blood (HP:0003154) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Abnormal circulating GABA concentration (HP:0034025) subClassOf (rdfs:subClassOf) Abnormal circulating monocarboxylic acid concentration (HP:0010996)
Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Abnormal circulating aspartate family amino acid concentration (HP:0010899) subClassOf (rdfs:subClassOf) Abnormal circulating carboxylic acid concentration (HP:0004354)
Mucopolysacchariduria (HP:0008155) subClassOf (rdfs:subClassOf) Abnormal urine metabolite level (HP:0033354)
Decreased level of glutamine in cerebrospinal fluid (HP:0500198) subClassOf (rdfs:subClassOf) Decreased CSF valine concentration (HP:0500188)
Increased level of citrulline in cerebrospinal fluid (HP:0500246) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Increased level of leucine in cerebrospinal fluid (HP:0500191) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Abnormal circulating adrenocorticotropin concentration (HP:0011043) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of galactitol in blood (HP:0410061) subClassOf (rdfs:subClassOf) Abnormal cellular phenotype (HP:0025354)
Abnormal circulating valine concentration (HP:0010914) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of gastrin in blood (HP:0500167) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Increased level of intestinal alkaline phosphatase in blood (HP:0010681) subClassOf (rdfs:subClassOf) Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679)
Increased level of serotonin in blood (HP:0003144) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Decreased level of alanine in cerebrospinal fluid (HP:0500233) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Abnormal circulating vitamin B12 concentration (HP:0040126) subClassOf (rdfs:subClassOf) Abnormal circulating nitrogen compound concentration (HP:0004364)
Decreased level of carbon dioxide in blood (HP:0012417) subClassOf (rdfs:subClassOf) Abnormal blood carbon dioxide level (HP:0500258)
Abnormal circulating methionine concentration (HP:0010901) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of iduronate 2-sulfatase in blood (HP:0003538) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Increased level of 3-methylglutaric acid in urine (HP:0003344) subClassOf (rdfs:subClassOf) Dicarboxylic aciduria (HP:0003215)
Abnormal circulating gastrin concentration (HP:0500166) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of alkaline phosphatase, placental type in blood (HP:0010682) subClassOf (rdfs:subClassOf) Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679)
Abnormal circulating isoleucine concentration (HP:0010912) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Abnormal circulating organic amino compound concentration (HP:0033405) subClassOf (rdfs:subClassOf) Abnormal circulating nitrogen compound concentration (HP:0004364)
Abnormal circulating proline concentration (HP:0010907) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of isoleucine in cerebrospinal fluid (HP:0500193) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Increased level of phenylalanine in cerebrospinal fluid (HP:0500223) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Decreased level of histidine in cerebrospinal fluid (HP:0500237) subClassOf (rdfs:subClassOf) Decreased CSF valine concentration (HP:0500188)
Increased level of L-aspartic acid in blood (HP:0500159) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Increased level of serine in blood (HP:0500138) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Abnormal circulating protein concentration (HP:0010876) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of serotonin in blood (HP:0003144) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Abnormal circulating testosterone concentration (HP:0030087) subClassOf (rdfs:subClassOf) Abnormal circulating hormone concentration (HP:0003117)
Decreased level of trans-4-hydroxy-L-proline in blood (HP:0500140) subClassOf (rdfs:subClassOf) Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109)
Increased level of UDP-glucose 4-epimerase in blood (HP:0410194) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Decreased level of serine in cerebrospinal fluid (HP:0500228) subClassOf (rdfs:subClassOf) Decreased CSF valine concentration (HP:0500188)
Decreased level of adiponectin (human) in blood (HP:0030685) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Increased level of methionine in cerebrospinal fluid (HP:0500210) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Abnormal circulating cysteine concentration (HP:0010918) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Abnormal magnesium concentration (HP:0004921) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Abnormal hemoglobin (HP:0011902) subClassOf (rdfs:subClassOf) Abnormal cellular phenotype (HP:0025354)
Decreased level of albumin in cerebrospinal fluid (HP:0025458) subClassOf (rdfs:subClassOf) Increased level of protein in cerebrospinal fluid (HP:0002922)
Abnormal blood UDP-glucose 4-epimerase level (HP:0410193) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Decreased level of isoleucine in cerebrospinal fluid (HP:0500194) subClassOf (rdfs:subClassOf) Decreased CSF valine concentration (HP:0500188)
Increased circulating very long-chain fatty acid concentration (HP:0033643) subClassOf (rdfs:subClassOf) Hyperlipidemia (HP:0003077)
Abnormal circulating glutamine concentration (HP:0010903) subClassOf (rdfs:subClassOf) Abnormal circulating carboxylic acid concentration (HP:0004354)
Decreased level of vitamin E in blood (HP:0100513) subClassOf (rdfs:subClassOf) Abnormal circulating organic compound concentration (HP:0430071)
Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) subClassOf (rdfs:subClassOf) Abnormal circulating monocarboxylic acid concentration (HP:0010996)
Increased level of tyrosine in cerebrospinal fluid (HP:0500221) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Abnormal blood insulin gene translation product level (HP:0040214) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of serine in cerebrospinal fluid (HP:0500227) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Abnormal blood sodium concentration (HP:0010931) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:0032180)
Abnormal circulating histidine concentration (HP:0010904) subClassOf (rdfs:subClassOf) Abnormal circulating organic amino compound concentration (HP:0033405)
Increased level of phosphoethanolamine in urine (HP:0003239) subClassOf (rdfs:subClassOf) Hyperphosphaturia (HP:0003109)
Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Abnormal circulating cysteine concentration (HP:0010918) subClassOf (rdfs:subClassOf) Abnormal circulating carboxylic acid concentration (HP:0004354)
Increased circulating very long-chain fatty acid concentration (HP:0033643) subClassOf (rdfs:subClassOf) Abnormal circulating monocarboxylic acid concentration (HP:0010996)
Abnormal urinary pyrimidine level (HP:0033162) subClassOf (rdfs:subClassOf) Abnormal urine metabolite level (HP:0033354)
Decreased level of carbon dioxide in umbilical cord blood (HP:0410215) subClassOf (rdfs:subClassOf) Decreased level of carbon dioxide in blood (HP:0012417)
Abnormal circulating fatty-acid anion concentration (HP:0010966) subClassOf (rdfs:subClassOf) Abnormal circulating lipid concentration (HP:0003119)
Increased level of sebacic acid in urine (HP:0500252) subClassOf (rdfs:subClassOf) Dicarboxylic aciduria (HP:0003215)
Increased level of albumin in blood (HP:0012117) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Increased level of threonine in cerebrospinal fluid (HP:0500212) subClassOf (rdfs:subClassOf) Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187)
Increased level of tryptophan in blood (HP:0500134) subClassOf (rdfs:subClassOf) Increased level of nitrogen in blood (HP:0002157)
Abnormal blood oxygen level (HP:0500165) subClassOf (rdfs:subClassOf) Abnormal circulating metabolite concentration (HP:00321

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