| HPO |
HP:0012449 |
Sacroiliac joint synovitis |
"Inflammation of the synovial membrane of the sacroiliac joint." [ORCID:0000-0001-5208-3432] |
— |
HP:0100781 |
| HPO |
HP:0012450 |
Chronic constipation |
"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] |
— |
HP:0002019 |
| HPO |
HP:0012451 |
Acute constipation |
"Constipation of sudden onset and lasting for less than three months." [ORCID:0000-0001-5208-3432] |
— |
HP:0002019 |
| HPO |
HP:0012452 |
Restless legs |
"A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia)." [HPO:probinson] |
Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. |
HP:0002360 |
| HPO |
HP:0012453 |
Bilateral wrist flexion contracture |
"A chronic loss of wrist joint motion on the right and left sides." [HPO:probinson] |
— |
HP:0001239 |
| HPO |
HP:0012454 |
Unilateral wrist flexion contracture |
"A chronic loss of wrist joint motion on one side only." [HPO:probinson] |
— |
HP:0001239 |
| HPO |
HP:0012455 |
obsolete Large artery calcification |
— |
— |
— |
| HPO |
HP:0012456 |
Medial arterial calcification |
"Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries." [HPO:probinson] |
Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. |
HP:0003207 |
| HPO |
HP:0012457 |
Medial calcification of medium-sized arteries |
"Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." [HPO:probinson] |
GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 |
HP:0012456 |
| HPO |
HP:0012458 |
Medial calcification of small arteries |
"Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries." [HPO:probinson] |
The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. A discussion on the logical definition can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877. |
HP:0012456 |
| HPO |
HP:0012459 |
Hypnic headache |
"A headache disorder that occurs exclusively at night, waking the affected individual from sleep." [HPO:probinson, PMID:20585827, PMID:23832130] |
Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. |
HP:0002315 |
| HPO |
HP:0012460 |
Dysmorphic inferior cerebellar vermis |
"A structural anomaly of the inferior portion of the vermis of cerebellum." [ORCID:0000-0001-5208-3432] |
— |
HP:0002334 |
| HPO |
HP:0012461 |
Bacteriuria |
"The presence of bacteria in the urine." [ORCID:0000-0001-5208-3432] |
The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. |
HP:0003110 |
| HPO |
HP:0012462 |
Chin myoclonus |
"Involuntary and irregular twitches of the chin." [HPO:probinson, PMID:16816905] |
— |
HP:0001336 |
| HPO |
HP:0012463 |
Elevated transferrin saturation |
"An above normal level of saturation of serum transferrin with iron." [HPO:probinson] |
Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. |
HP:0040135 |
| HPO |
HP:0012464 |
Decreased transferrin saturation |
"A below normal level of saturation of serum transferrin with iron." [HPO:probinson] |
Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. |
HP:0040135 |
| HPO |
HP:0012465 |
Elevated hepatic iron concentration |
"An increased level of iron in liver tissues." [HPO:probinson, PMID:10922422, PMID:14668426] |
This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. |
HP:0040134 |
| HPO |
HP:0012466 |
Chronic respiratory acidosis |
"Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)." [HPO:probinson] |
— |
HP:0005972, HP:0012468 |
| HPO |
HP:0012467 |
Acute respiratory acidosis |
"Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)." [HPO:probinson] |
— |
HP:0005972 |
| HPO |
HP:0012468 |
Chronic acidosis |
"Longstanding abnormal acid accumulation or depletion of base." [ORCID:0000-0001-5208-3432] |
— |
HP:0001941 |
| HPO |
HP:0012469 |
Infantile spasms |
"Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig] |
— |
HP:0011097 |
| HPO |
HP:0012470 |
Setting-sun eye phenomenon |
"An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [HPO:probinson, PMID:17030938] |
Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. |
HP:0000597 |
| HPO |
HP:0012471 |
Thick vermilion border |
"Increased width of the skin of vermilion border region of upper lip." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0012472 |
Eclabion |
"A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0012473 |
Tongue atrophy |
"Wasting of the tongue." [ORCID:0000-0001-5208-3432] |
— |
HP:0030809 |