|
Nailfold capillary tortuosity
|
HP_0033250 |
[An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.] |
|
neuromuscular process controlling posture
|
GO_0050884 |
[Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts.] |
|
neuromuscular process controlling balance
|
GO_0050885 |
[Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.] |
|
Sudden unexpected death in epilepsy
|
HP_0033258 |
[Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.] |
|
Delayed ability to walk with support
|
HP_0033257 |
[A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.] |
|
Pancolitis
|
HP_0033256 |
[Inflammation of the entire colon.] |
|
Congenital lobar overinflation
|
HP_0033255 |
[A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.] |
|
Abnormal lung lobation
|
HP_0002101 |
[A developmental defect in the formation of pulmonary lobes.] |
|
Anorectal stricture
|
HP_0033254 |
[Narrowing of the anorectum associated with inflammation or scar tissue.] |
|
Reduced circulating interferon gamma concentration
|
HP_0033253 |
[A reduction in the concentration of interferon gamma measured in the blood circulation.] |
|
Palmar hyperlinearity
|
HP_0033252 |
[Exaggerated skin markings (dermatoglyphics) on the palms of the hand.] |
|
Focal substantia nigra T2 hyperintensity
|
HP_0033249 |
[Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.] |
|
multicellular organismal-level water homeostasis
|
GO_0050891 |
[A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell.] |
|
intestinal absorption
|
GO_0050892 |
[A process in which nutrients are taken up from the contents of the intestine.] |
|
nervous system process involved in regulation of systemic arterial blood pressure
|
GO_0001976 |
[The regulation of blood pressure mediated by detection of stimuli and a neurological response.] |
|
renal system process involved in regulation of blood volume
|
GO_0001977 |
[A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system.] |
|
Elevated RV/TLC ratio
|
HP_0033240 |
[An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.] |
|
Abnormal RV/TLC ratio
|
HP_0033772 |
[Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.] |
|
Multiple pulmonary interstitial hyalinized nodules
|
HP_0033248 |
[Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.] |
|
Pulmonary amyloidosis
|
HP_0033247 |
[Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.] |