| HPO |
HP:0003109 |
Hyperphosphaturia |
"An increased excretion of phosphates in the urine." [HPO:curators] |
— |
HP:0012599 |
| HPO |
HP:0003110 |
Abnormality of urine homeostasis |
"An abnormality of the composition of urine or the levels of its components." [HPO:probinson] |
— |
HP:0001939, HP:0011277 |
| HPO |
HP:0003111 |
Abnormal blood ion concentration |
"Abnormality of the homeostasis (concentration) of a monoatomic ion." [HPO:probinson] |
— |
HP:0032180 |
| HPO |
HP:0003112 |
Abnormal circulating amino acid concentration |
"The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [HPO:curators] |
— |
HP:0004354 |
| HPO |
HP:0003113 |
Hypochloremia |
"An abnormally decreased chloride concentration in the blood." [HPO:probinson] |
— |
HP:0011422 |
| HPO |
HP:0003114 |
obsolete Abnormal cardiological findings |
— |
— |
— |
| HPO |
HP:0003115 |
Abnormal EKG |
"Abnormal rhythm of the heart." [] |
— |
HP:0030956, HP:0500015 |
| HPO |
HP:0003116 |
Abnormal echocardiogram |
"An abnormality detectable by sonography of the heart (echocardiography)." [HPO:probinson] |
Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627). |
HP:0011025, HP:0500015 |
| HPO |
HP:0003117 |
Abnormal circulating hormone concentration |
"An abnormal concentration of a hormone in the blood." [HPO:probinson] |
— |
HP:0000818 |
| HPO |
HP:0003118 |
Increased circulating cortisol level |
"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." [DDD:spark] |
— |
HP:0002717, HP:0011731 |
| HPO |
HP:0003119 |
Abnormal circulating lipid concentration |
"Any deviation from the normal concentration of a lipid in the blood circulation." [HPO:probinson] |
According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. |
HP:0032180 |
| HPO |
HP:0003121 |
Limb joint contracture |
"A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [HPO:probinson] |
— |
HP:0001371 |
| HPO |
HP:0003124 |
Hypercholesterolemia |
"An increased concentration of cholesterol in the blood." [HPO:gcarletti] |
— |
HP:0003107 |
| HPO |
HP:0003125 |
Reduced factor VIII activity |
"Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [HPO:probinson] |
— |
HP:0030976 |
| HPO |
HP:0003126 |
Low-molecular-weight proteinuria |
"Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [PMID:95574] |
— |
HP:0000093 |
| HPO |
HP:0003127 |
Hypocalciuria |
"An abnormally decreased calcium concentration in the urine." [HPO:probinson] |
— |
HP:0011280 |
| HPO |
HP:0003128 |
Lactic acidosis |
"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids." [HPO:probinson] |
Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. |
HP:0001941 |
| HPO |
HP:0003130 |
Abnormal peripheral myelination |
"An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense." [DDD:fmunitoni, HPO:jbaets] |
This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). |
HP:0000759, HP:0012447 |
| HPO |
HP:0003131 |
Cystinuria |
"An increased concentration of cystine in the urine." [HPO:gcarletti] |
Cystine is a sulfur-containing amino acid. |
HP:0033095 |
| HPO |
HP:0003133 |
Abnormality of the spinocerebellar tracts |
"An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract." [HPO:probinson] |
— |
HP:0002143 |
| HPO |
HP:0003134 |
Abnormality of peripheral nerve conduction |
"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [HPO:probinson] |
A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. |
HP:0030177, HP:0045010 |
| HPO |
HP:0003137 |
Prolinuria |
"An increased concentration of proline in the urine." [HPO:probinson] |
Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. |
HP:0033100 |
| HPO |
HP:0003138 |
Increased blood urea nitrogen |
"An increased amount of nitrogen in the form of urea in the blood." [HPO:gcarletti] |
— |
HP:0002157, HP:0031970 |
| HPO |
HP:0003139 |
Panhypogammaglobulinemia |
"A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes." [PMID:23726535] |
— |
HP:0004313 |
| HPO |
HP:0003140 |
T-wave inversion in the right precordial leads |
— |
— |
HP:0010872 |