| HPO |
HP:0012699 |
Anomaly of lower limb diaphyses |
"A structural abnormality of a diaphysis of the leg." [UToronto:htrang] |
— |
HP:0000940 |
| HPO |
HP:0012700 |
Abnormal large intestine physiology |
"A functional anomaly of the large intestine." [HPO:probinson] |
— |
HP:0025032 |
| HPO |
HP:0012701 |
Bowel urgency |
"A sudden, irresistible need to have a bowel movement." [UToronto:htrang] |
— |
HP:0012700 |
| HPO |
HP:0012702 |
Tenesmus |
"A repeated, painful urge to defecate without excreting stool." [HPO:probinson] |
— |
HP:0012700 |
| HPO |
HP:0012703 |
Abnormal subarachnoid space morphology |
"Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid." [UToronto:htrang] |
— |
HP:0002011 |
| HPO |
HP:0012704 |
Widened subarachnoid space |
"An increase in size of the anatomic space between the arachnoid membrane and pia mater." [HPO:probinson] |
— |
HP:0012703 |
| HPO |
HP:0012705 |
Abnormal metabolic brain imaging by MRS |
"An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO:probinson] |
MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. |
HP:0410263 |
| HPO |
HP:0012706 |
Elevated brain choline level by MRS |
"An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] |
The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. |
HP:0025047 |
| HPO |
HP:0012707 |
Elevated brain lactate level by MRS |
"An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] |
Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. |
HP:0025045 |
| HPO |
HP:0012708 |
Reduced brain N-acetyl aspartate level by MRS |
"A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] |
N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. |
HP:0025052 |
| HPO |
HP:0012709 |
Abnormal brain choline/creatine ratio by MRS |
"A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] |
Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. |
HP:0012705 |
| HPO |
HP:0012710 |
Ingrown nail |
"Excessive growth of a nail laterally into the nail fold." [HPO:probinson] |
— |
HP:0001597 |
| HPO |
HP:0012711 |
Delayed ossification of vertebral epiphysis |
"A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [HPO:probinson] |
— |
HP:0100569 |
| HPO |
HP:0012712 |
Mild hearing impairment |
"The presence of a mild form of hearing impairment." [HPO:probinson] |
— |
HP:0000365 |
| HPO |
HP:0012713 |
Moderate hearing impairment |
"The presence of a moderate form of hearing impairment." [HPO:probinson] |
— |
HP:0000365 |
| HPO |
HP:0012714 |
Severe hearing impairment |
"A severe form of hearing impairment." [HPO:probinson] |
— |
HP:0000365 |
| HPO |
HP:0012715 |
Profound hearing impairment |
"A profound (essentially complete) form of hearing impairment." [HPO:probinson] |
— |
HP:0000365 |
| HPO |
HP:0012716 |
Moderate conductive hearing impairment |
"The presence of a moderate form of conductive hearing impairment." [HPO:probinson] |
Conductive hearing impairment with 21-40 dB deficit. |
HP:0000405, HP:0012712, HP:0012713 |
| HPO |
HP:0012717 |
Severe conductive hearing impairment |
"A severe form of conductive hearing impairment." [HPO:probinson] |
Conductive hearing impairment with 21-40 dB deficit. |
HP:0000405, HP:0012712, HP:0012714 |
| HPO |
HP:0012718 |
Morphological abnormality of the gastrointestinal tract |
"Abnormal structure of the gastrointestinal tract." [HPO:probinson] |
— |
HP:0011024, HP:0025033 |
| HPO |
HP:0012719 |
Functional abnormality of the gastrointestinal tract |
"Abnormal functionality of the gastrointestinal tract." [HPO:probinson] |
— |
HP:0011024, HP:0025032 |
| HPO |
HP:0012720 |
Neoplasm of the nose |
"Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity." [HPO:probinson] |
— |
HP:0012289, HP:0100630 |
| HPO |
HP:0012721 |
Venous malformation |
"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson] |
Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. |
HP:0002624 |
| HPO |
HP:0012722 |
Heart block |
"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [HPO:probinson] |
— |
HP:0031546 |
| HPO |
HP:0012723 |
Sinoatrial block |
"Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [HPO:probinson] |
Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. |
HP:0011702, HP:0012722 |