| HPO |
HP:0002028 |
Chronic diarrhea |
"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson] |
— |
HP:0002014 |
| HPO |
HP:0002031 |
Abnormal esophagus morphology |
"A structural abnormality of the esophagus." [HPO:probinson] |
— |
HP:0012718 |
| HPO |
HP:0002032 |
Esophageal atresia |
"A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
— |
HP:0002031, HP:0002589 |
| HPO |
HP:0002033 |
Poor suck |
"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:pnrobinson] |
— |
HP:0008872 |
| HPO |
HP:0002034 |
Abnormal rectum morphology |
"An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [HPO:probinson] |
— |
HP:0002250, HP:0012732 |
| HPO |
HP:0002035 |
Rectal prolapse |
"Protrusion of the rectal mucous membrane through the anus." [HPO:probinson] |
— |
HP:0002034 |
| HPO |
HP:0002036 |
Hiatus hernia |
"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [HPO:probinson] |
A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). |
HP:0002577, HP:0100790 |
| HPO |
HP:0002037 |
Inflammation of the large intestine |
"Inflammation, or an inflammatory state in the large intestine." [] |
— |
HP:0002250, HP:0004386 |
| HPO |
HP:0002038 |
Protein avoidance |
— |
— |
HP:0011458 |
| HPO |
HP:0002039 |
Anorexia |
"A lack or loss of appetite for food (as a medical condition)." [HPO:probinson] |
Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). |
HP:0011458 |
| HPO |
HP:0002040 |
Esophageal varix |
"Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [HPO:probinson] |
Esophageal varices are most often a consequence of portal hypertension. |
HP:0002031 |
| HPO |
HP:0002041 |
Intractable diarrhea |
— |
— |
HP:0002014 |
| HPO |
HP:0002043 |
Esophageal stricture |
"A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [HPO:probinson] |
Gastroesophageal reflux is a common cause of esophageal stricture. |
HP:0010450 |
| HPO |
HP:0002044 |
Zollinger-Ellison syndrome |
"A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [HPO:probinson] |
Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. |
HP:0007378 |
| HPO |
HP:0002045 |
Hypothermia |
"Reduced body temperature due to failed thermoregulation." [HPO:sdoelken] |
A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). |
HP:0004370 |
| HPO |
HP:0002046 |
Heat intolerance |
"The inability to maintain a comfortable body temperature in warm or hot weather." [HPO:probinson] |
Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. |
HP:0004370 |
| HPO |
HP:0002047 |
Malignant hyperthermia |
"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] |
— |
HP:0004370 |
| HPO |
HP:0002048 |
Renal cortical atrophy |
"Atrophy of the cortex of the kidney." [HPO:probinson] |
— |
HP:0011035, HP:0012585 |
| HPO |
HP:0002049 |
Proximal renal tubular acidosis |
"A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [HPO:probinson] |
— |
HP:0001947 |
| HPO |
HP:0002050 |
Macroorchidism, postpubertal |
— |
— |
HP:0000053 |
| HPO |
HP:0002054 |
Heavy supraorbital ridges |
— |
— |
HP:0000336 |
| HPO |
HP:0002055 |
Curved linear dimple below the lower lip |
— |
— |
HP:0000178 |
| HPO |
HP:0002056 |
Abnormality of the glabella |
"An abnormality of the glabella." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0002057 |
Prominent glabella |
"Forward protrusion of the glabella." [HPO:probinson, PMID:19125436] |
The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. |
HP:0002056 |
| HPO |
HP:0002058 |
Myopathic facies |
"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] |
— |
HP:0004673 |