| HPO |
HP:0003141 |
Increased LDL cholesterol concentration |
"An elevated concentration of low-density lipoprotein cholesterol in the blood." [HPO:probinson] |
— |
HP:0010980, HP:0031886 |
| HPO |
HP:0003142 |
Excessive purine production |
— |
— |
HP:0012337 |
| HPO |
HP:0003144 |
Increased serum serotonin |
"A increased concentration of serotonin in the blood." [HPO:probinson] |
— |
HP:0003117 |
| HPO |
HP:0003145 |
Decreased adenosylcobalamin |
"Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12." [HPO:probinson] |
— |
HP:0040126 |
| HPO |
HP:0003146 |
Hypocholesterolemia |
"An decreased concentration of cholesterol in the blood." [HPO:gcarletti] |
— |
HP:0003107 |
| HPO |
HP:0003148 |
Elevated serum acid phosphatase |
— |
Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. |
HP:0004356 |
| HPO |
HP:0003149 |
Hyperuricosuria |
"An abnormally high level of uric acid in the urine." [HPO:probinson] |
— |
HP:0004364, HP:0033354 |
| HPO |
HP:0003150 |
Glutaric aciduria |
"An increased concentration of glutaric acid in the urine." [HPO:gcarletti] |
— |
HP:0003215 |
| HPO |
HP:0003152 |
obsolete Increased serum 1,25-dihydroxyvitamin D3 |
— |
— |
— |
| HPO |
HP:0003153 |
Cystathioninuria |
"An elevated urinary concentration of cystathionine." [HPO:probinson] |
Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. |
HP:0033098 |
| HPO |
HP:0003154 |
Increased circulating ACTH level |
"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] |
— |
HP:0011043 |
| HPO |
HP:0003155 |
Elevated circulating alkaline phosphatase concentration |
"Abnormally increased serum levels of alkaline phosphatase activity." [HPO:probinson, PMID:29083622] |
— |
HP:0004379 |
| HPO |
HP:0003158 |
Hyposthenuria |
"An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [HPO:probinson] |
Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. |
HP:0033358 |
| HPO |
HP:0003159 |
Hyperoxaluria |
"Increased excretion of oxalates in the urine." [HPO:probinson] |
— |
HP:0001992 |
| HPO |
HP:0003160 |
Abnormal isoelectric focusing of serum transferrin |
"Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded." [HPO:probinson, PMID:22516080] |
Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. |
HP:0012347 |
| HPO |
HP:0003161 |
4-Hydroxyphenylpyruvic aciduria |
"Increased concentration of pyruvic acid in the urine." [HPO:probinson] |
— |
HP:0040156 |
| HPO |
HP:0003162 |
Fasting hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0003163 |
Elevated urinary delta-aminolevulinic acid |
"An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [HPO:probinson] |
Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. |
HP:0033354 |
| HPO |
HP:0003164 |
Hypothalamic gonadotropin-releasing hormone deficiency |
— |
— |
HP:0012285, HP:0500012 |
| HPO |
HP:0003165 |
Elevated circulating parathyroid hormone level |
"An abnormal increased concentration of parathyroid hormone." [HPO:probinson] |
— |
HP:0100530 |
| HPO |
HP:0003166 |
Increased urinary taurine |
"Increased concentration of taurine in the urine." [HPO:probinson] |
— |
HP:0033097 |
| HPO |
HP:0003167 |
Carnosinuria |
"An increased concentration of carnosine in the urine." [HPO:probinson] |
Carnosine is the N-(beta-alanyl) derivative of L-histidine. |
HP:0033097 |
| HPO |
HP:0003168 |
Dibasicaminoaciduria |
"An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His)." [] |
— |
HP:0033100 |
| HPO |
HP:0003170 |
Abnormal acetabulum morphology |
"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [HPO:probinson] |
— |
HP:0001384 |
| HPO |
HP:0003172 |
Abnormality of the pubic bone |
"An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone." [HPO:probinson] |
— |
HP:0003272 |