| HPO |
HP:0020198 |
Abnormal circulating 18-hydroxycorticosterone level |
"Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation." [PMID:2669615] |
— |
HP:0012112 |
| HPO |
HP:0020199 |
Decreased circulating 18-hydroxycortisone level |
"A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation." [] |
— |
HP:0020198 |
| HPO |
HP:0020200 |
Increased circulating 18-hydroxycortisone level |
"An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation." [PMID:22238407] |
— |
HP:0020198 |
| HPO |
HP:0020201 |
Abnormal sarcomere morphology |
"Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs." [] |
— |
HP:0004303 |
| HPO |
HP:0020202 |
Abnormal Z disc morphology |
"Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached." [PMID:22028589] |
Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. |
HP:0020201 |
| HPO |
HP:0020203 |
Z-band streaming |
"Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change." [PMID:1180479, PMID:22028589] |
— |
HP:0020202 |
| HPO |
HP:0020204 |
Tubulointerstitial bacterial infiltration |
"Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains." [KPMP:arosenberg] |
Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates. |
HP:0032635 |
| HPO |
HP:0020205 |
Tubulointerstitial fungal infiltration |
"Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains." [KPMP:arosenberg] |
Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions. |
HP:0032635 |
| HPO |
HP:0020206 |
Simple ear |
"The pinna has fewer folds and grooves than usual." [PMID:15523657] |
— |
HP:0000377 |
| HPO |
HP:0020207 |
Reflex seizure |
"Seizures precipitated by exogenous stimuli." [ORCID:0000-0002-1735-8178, PMID:11422340] |
Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures. |
HP:0001250 |
| HPO |
HP:0020208 |
Eating-induced seizure |
"A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period." [ORCID:0000-0002-1735-8178, PMID:11422340] |
— |
HP:0020207 |
| HPO |
HP:0020209 |
Hot water-induced seizure |
"A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger." [ORCID:0000-0002-1735-8178, PMID:11422340] |
— |
HP:0020207 |
| HPO |
HP:0020210 |
Praxis-induced seizure |
"A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making." [ORCID:0000-0002-1735-8178, PMID:11422340, PMID:24512781] |
— |
HP:0020207 |
| HPO |
HP:0020211 |
Proprioceptive-induced seizure |
"A seizure precipitated by movement or a change in posture." [ORCID:0000-0002-1735-8178, PMID:11422340] |
— |
HP:0020207 |
| HPO |
HP:0020212 |
Reading-induced seizure |
"A seizure precipitated by reading." [ORCID:0000-0002-1735-8178, PMID:11422340] |
These are typically manifest by myoclonic movements of the jaw or throat, increasing in frequency and potentially culminating in a bilateral tonic-clonic seizure if reading continues. |
HP:0020207 |
| HPO |
HP:0020213 |
Somatosensory-induced seizure |
"A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise." [ORCID:0000-0002-1735-8178, PMID:11422340] |
— |
HP:0020207 |
| HPO |
HP:0020214 |
Startle-induced seizure |
"Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus." [ORCID:0000-0002-1735-8178, PMID:11422340] |
Seizures are stereotyped and typically unilateral or bilateral tonic in nature. |
HP:0020207 |
| HPO |
HP:0020215 |
Thinking-induced seizure |
"Seizures induced by thinking and decision-making.\ncomment:" [ORCID:0000-0002-1735-8178, PMID:11422340] |
These have been reported occurring in response to higher nonverbal mental activity such as playing chess or card games, performing mathematical calculation, drawing complex figures, manipulating spatial information, and typing. |
HP:0020207 |
| HPO |
HP:0020216 |
Visually-induced seizure |
"Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect." [ORCID:0000-0002-1735-8178, PMID:11422340] |
— |
HP:0020207 |
| HPO |
HP:0020217 |
Focal aware motor seizure |
"A type of focal motor seizure in which awareness is retained throughout the seizure." [ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276064] |
— |
HP:0002349, HP:0011153 |
| HPO |
HP:0020218 |
Focal aware atonic seizure |
"A type of focal atonic seizure during which awareness is fully retained throughout." [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] |
— |
HP:0020217, HP:0020220 |
| HPO |
HP:0020219 |
Motor seizure |
"A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement." [ORCID:0000-0002-1735-8178, PMID:28276060] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. |
HP:0001250 |
| HPO |
HP:0020220 |
Focal atonic seizure |
"A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature." [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] |
— |
HP:0010819, HP:0011153 |
| HPO |
HP:0020221 |
Clonic seizure |
"A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [ORCID:0000-0002-1735-8178, PMID:11580774] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding clonic seizures when the onset is not known. |
HP:0020219 |
| HPO |
HP:0025004 |
Hallux rigidus |
"Osteoarthritis of the metatarsophalangeal joint of the first toe." [HPO:probinson, PMID:24649409] |
Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. |
HP:0001844 |