| HPO |
HP:0012423 |
Colonic inertia |
"The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days." [HPO:probinson, PMID:23449085] |
— |
HP:0012700 |
| HPO |
HP:0012424 |
Chorioretinitis |
"An inflammation of the choroid and retina." [ORCID:0000-0001-5208-3432, PMID:16196117] |
Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. |
HP:0000532 |
| HPO |
HP:0012425 |
Stercoral ulcer |
"An ulcer of the colon due to pressure and irritation from retained fecal masses." [ORCID:0000-0001-5208-3432, PMID:7065551] |
Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. |
HP:0002250 |
| HPO |
HP:0012426 |
Optic disc drusen |
"Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [HPO:probinson, PMID:22787500, PMID:23658477, PMID:30524490] |
Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). |
HP:0011510, HP:0012795 |
| HPO |
HP:0012427 |
Excessive femoral anteversion |
"An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [HPO:probinson, ORCID:0000-0001-5208-3432] |
Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. |
HP:0002823 |
| HPO |
HP:0012428 |
Prominent calcaneus |
"Protruding heel bone, or calcaneus." [ORCID:0000-0001-5208-3432] |
— |
HP:0008364 |
| HPO |
HP:0012429 |
Aplasia/Hypoplasia of the cerebral white matter |
"Absence or underdevelopment of the cerebral white matter." [HPO:probinson] |
— |
HP:0002500 |
| HPO |
HP:0012430 |
Cerebral white matter hypoplasia |
"Underdevelopment of the cerebral white matter." [HPO:probinson] |
— |
HP:0012429 |
| HPO |
HP:0012431 |
Episodic fatigue |
"Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
— |
HP:0012378 |
| HPO |
HP:0012432 |
Chronic fatigue |
"Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] |
Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. |
HP:0012378 |
| HPO |
HP:0012433 |
Abnormal social behavior |
"An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] |
— |
HP:0000708 |
| HPO |
HP:0012434 |
Delayed social development |
"A failure to meet one or more age-related milestones of social behavior." [HPO:probinson] |
This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers. |
HP:0012433, HP:0012758 |
| HPO |
HP:0012435 |
Ventral shortening of foreskin |
"Reduction in length of the ventral (lower) skin of prepuce of penis." [ORCID:0000-0001-5208-3432] |
— |
HP:0100587 |
| HPO |
HP:0012436 |
Nonocclusive coronary artery atherosclerosis |
"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [ORCID:0000-0001-5208-3432] |
— |
HP:0001677 |
| HPO |
HP:0012437 |
Abnormal gallbladder morphology |
"A structural anomaly of the gallbladder." [HPO:probinson] |
— |
HP:0005264 |
| HPO |
HP:0012438 |
Abnormal gallbladder physiology |
"A functional anomaly of the gallbladder." [HPO:probinson] |
— |
HP:0005264 |
| HPO |
HP:0012439 |
Abnormal biliary tract physiology |
"A functional abnormality of the biliary tree." [HPO:probinson] |
— |
HP:0001080 |
| HPO |
HP:0012440 |
Abnormal biliary tract morphology |
"A structural abnormality of the biliary tree." [HPO:probinson] |
— |
HP:0001080 |
| HPO |
HP:0012441 |
Sphincter of Oddi dyskinesia |
"Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." [HPO:probinson] |
The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. |
HP:0012396 |
| HPO |
HP:0012442 |
Gallbladder dyskinesia |
"Reduced motility of the gallbladder with reduced emptying fraction." [HPO:probinson, PMID:12095476, PMID:17761125] |
Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. |
HP:0012396 |
| HPO |
HP:0012443 |
Abnormality of brain morphology |
"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [HPO:probinson] |
— |
HP:0002011 |
| HPO |
HP:0012444 |
Brain atrophy |
"Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
— |
HP:0007367, HP:0012443 |
| HPO |
HP:0012446 |
Decreased CSF 5-methyltetrahydrofolate concentration |
"A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." [HPO:probinson] |
— |
HP:0012335, HP:0025454 |
| HPO |
HP:0012447 |
Abnormal myelination |
"Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [HPO:probinson, MP:0000920] |
— |
HP:0012639 |
| HPO |
HP:0012448 |
Delayed myelination |
"Delayed myelination." [ORCID:0000-0001-5208-3432] |
— |
HP:0012447 |