obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
288 stars 51 forks source link

Add chemical phenotype update pipeline to HPO #10560

Open matentzn opened 4 months ago

matentzn commented 4 months ago

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

github-actions[bot] commented 2 months ago
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

WARNING: This diff is too large and has been truncated. For full diff see here.