| HPO |
HP:0003236 |
Elevated circulating creatine kinase concentration |
"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson] |
'has part' some \n('increased amount' and ('inheres in' some \n(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) |
HP:0040081 |
| HPO |
HP:0003237 |
Increased circulating IgG level |
"An abnormally increased level of immunoglobulin G in blood." [HPO:probinson] |
— |
HP:0010702, HP:0410242 |
| HPO |
HP:0003238 |
Hyperpepsinogenemia I |
— |
— |
HP:0010876 |
| HPO |
HP:0003239 |
Phosphoethanolaminuria |
"An increased concentration of phosphoethanolamine in the urine." [HPO:probinson] |
— |
HP:0033354 |
| HPO |
HP:0003240 |
Increased phosphoribosylpyrophosphate synthetase level |
"Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723] |
— |
HP:0032459 |
| HPO |
HP:0003241 |
External genital hypoplasia |
"Underdevelopment of part or all of the external reproductive organs." [HPO:probinson] |
Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. |
HP:0000811 |
| HPO |
HP:0003244 |
Penile hypospadias |
"Location of the urethral opening on the inferior aspect of the penis." [HPO:curators] |
— |
HP:0000047 |
| HPO |
HP:0003246 |
Prominent scrotal raphe |
"Increased size of the ridge of tissue that extends along the midline of the scrotum." [HPO:probinson] |
— |
HP:0000045 |
| HPO |
HP:0003247 |
Overgrowth of external genitalia |
— |
— |
HP:0000811 |
| HPO |
HP:0003248 |
Gonadal tissue inappropriate for external genitalia or chromosomal sex |
— |
— |
HP:0000062 |
| HPO |
HP:0003249 |
Genital ulcers |
— |
— |
HP:0012243 |
| HPO |
HP:0003250 |
Aplasia of the vagina |
"Aplasia of the vagina." [HPO:probinson] |
— |
HP:0011026 |
| HPO |
HP:0003251 |
Male infertility |
— |
— |
HP:0000789, HP:0012041 |
| HPO |
HP:0003252 |
Anteriorly displaced genitalia |
— |
— |
HP:0012243 |
| HPO |
HP:0003254 |
Abnormality of DNA repair |
"An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage." [HPO:probinson] |
— |
HP:0011017 |
| HPO |
HP:0003256 |
Abnormality of the coagulation cascade |
"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [HPO:probinson] |
— |
HP:0001928 |
| HPO |
HP:0003258 |
Glyoxalase deficiency |
— |
— |
HP:0012379 |
| HPO |
HP:0003259 |
Elevated circulating creatinine concentration |
"An increased amount of creatinine in the blood." [HPO:gcarletti] |
— |
HP:0002157, HP:0012100 |
| HPO |
HP:0003260 |
Hydroxyprolinemia |
"An increased concentration of hydroxyproline in the blood." [HPO:gcarletti] |
Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. |
HP:0010907 |
| HPO |
HP:0003261 |
Increased circulating IgA level |
"An abnormally increased level of immunoglobulin A in blood." [HPO:probinson] |
— |
HP:0010702, HP:0410240 |
| HPO |
HP:0003262 |
Smooth muscle antibody positivity |
"The presence in serum of antibodies against smooth muscle." [HPO:probinson] |
Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. |
HP:0030057 |
| HPO |
HP:0003264 |
Deficiency of N-acetylglucosamine-1-phosphotransferase |
— |
N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. |
HP:0004356 |
| HPO |
HP:0003265 |
Neonatal hyperbilirubinemia |
"A type of hyperbilirubinemia with neonatal onset." [HPO:probinson] |
— |
HP:0002904 |
| HPO |
HP:0003267 |
Reduced orotidine 5-prime phosphate decarboxylase level |
"An abnormal decrease in orotidine 5'-phosphate decarboxylase level." [HPO:gcarletti] |
The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. |
HP:0012379 |
| HPO |
HP:0003268 |
Argininuria |
"A increased concentration of arginine in the urine." [HPO:probinson, PMID:18901181, PMID:20240447] |
Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. |
HP:0033093 |