| HPO |
HP:0002591 |
Polyphagia |
"A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [HPO:probinson] |
— |
HP:0100738 |
| HPO |
HP:0002592 |
Gastric ulcer |
"An ulcer, that is, an erosion of an area of the gastric mucous membrane." [HPO:probinson] |
The presence of a mucosal erosion equal to or greater than 0.5 cm. |
HP:0004295, HP:0004398 |
| HPO |
HP:0002593 |
Intestinal lymphangiectasia |
"Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [HPO:probinson] |
— |
HP:0002242, HP:0031842 |
| HPO |
HP:0002594 |
Pancreatic hypoplasia |
"Hypoplasia of the pancreas." [HPO:probinson] |
Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. |
HP:0100800 |
| HPO |
HP:0002595 |
Ileus |
"Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken] |
— |
HP:0002579, HP:0005214 |
| HPO |
HP:0002597 |
Abnormality of the vasculature |
"An abnormality of the vasculature." [HPO:probinson] |
— |
HP:0001626 |
| HPO |
HP:0002599 |
Head titubation |
"A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [HPO:probinson] |
Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement\nof the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. |
HP:0002346, HP:0002457, HP:0030187 |
| HPO |
HP:0002600 |
Hyporeflexia of lower limbs |
"Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] |
Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. |
HP:0001265, HP:0002814 |
| HPO |
HP:0002601 |
Paresis of extensor muscles of the big toe |
— |
— |
HP:0001844, HP:0002460 |
| HPO |
HP:0002604 |
Gastrointestinal telangiectasia |
"Telangiectasia affecting the gastrointestinal tract." [HPO:probinson] |
Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. |
HP:0004296, HP:0100579 |
| HPO |
HP:0002605 |
Hepatic necrosis |
"The presence of cell death (necrosis) affecting the liver." [HPO:probinson] |
— |
HP:0410042 |
| HPO |
HP:0002607 |
Bowel incontinence |
"Involuntary fecal soiling in adults and children who have usually already been toilet trained." [HPO:sdoelken] |
— |
HP:0012700, HP:0031064 |
| HPO |
HP:0002608 |
Celiac disease |
"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases." [HPO:probinson, PMID:23681421] |
— |
HP:0002244, HP:0100326 |
| HPO |
HP:0002611 |
Cholestatic liver disease |
— |
— |
HP:0001396 |
| HPO |
HP:0002612 |
Congenital hepatic fibrosis |
"The presence of fibrosis of that part of the liver with congenital onset." [HPO:probinson] |
Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). |
HP:0001395 |
| HPO |
HP:0002613 |
Biliary cirrhosis |
"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease." [HPO:probinson] |
— |
HP:0012440 |
| HPO |
HP:0002614 |
Hepatic periportal necrosis |
"A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein." [HPO:probinson] |
— |
HP:0002605 |
| HPO |
HP:0002615 |
Hypotension |
"Low Blood Pressure, vascular hypotension." [HPO:probinson] |
— |
HP:0030972 |
| HPO |
HP:0002616 |
Aortic root aneurysm |
"An abnormal localized widening (dilatation) of the aortic root." [] |
— |
HP:0012727 |
| HPO |
HP:0002617 |
Vascular dilatation |
"Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [HPO:probinson, PMID:30225143] |
Aneurysm is considered a severe form of dilatation. |
HP:0033353 |
| HPO |
HP:0002619 |
Varicose veins |
"Enlarged and tortuous veins." [HPO:probinson] |
— |
HP:0005293 |
| HPO |
HP:0002621 |
Atherosclerosis |
"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:probinson] |
Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. |
HP:0002634 |
| HPO |
HP:0002622 |
obsolete Dissecting aortic dilatation |
— |
— |
— |
| HPO |
HP:0002623 |
Overriding aorta |
"An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] |
— |
HP:0001679 |
| HPO |
HP:0002624 |
Abnormal venous morphology |
"An anomaly of vein." [HPO:probinson] |
— |
HP:0033353 |