From HPO
Abdominal pain- MedGen UID:
- 7803
- •Concept ID:
- C0000737
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Chest pain- MedGen UID:
- 2992
- •Concept ID:
- C0008031
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Episodic abdominal pain- MedGen UID:
- 814352
- •Concept ID:
- C3808022
- •
- Finding
An intermittent form of abdominal pain.
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Orchitis- MedGen UID:
- 18191
- •Concept ID:
- C0029191
- •
- Disease or Syndrome
Testicular inflammation.
Renal amyloidosis- MedGen UID:
- 120633
- •Concept ID:
- C0268382
- •
- Disease or Syndrome
A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Crohn disease- MedGen UID:
- 3664
- •Concept ID:
- C0010346
- •
- Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Chronic constipation- MedGen UID:
- 98325
- •Concept ID:
- C0401149
- •
- Sign or Symptom
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.
Headache- MedGen UID:
- 9149
- •Concept ID:
- C0018681
- •
- Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Pleural effusion- MedGen UID:
- 10805
- •Concept ID:
- C0032227
- •
- Pathologic Function
The presence of an excessive amount of fluid in the pleural cavity.
Pleuritis- MedGen UID:
- 10807
- •Concept ID:
- C0032231
- •
- Disease or Syndrome
Inflammation of the pleura.
Erysipelas- MedGen UID:
- 41855
- •Concept ID:
- C0014733
- •
- Disease or Syndrome
Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.
Leukocytosis- MedGen UID:
- 9736
- •Concept ID:
- C0023518
- •
- Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Meningitis- MedGen UID:
- 6298
- •Concept ID:
- C0025289
- •
- Disease or Syndrome
Inflammation of the meninges.
Pericarditis- MedGen UID:
- 18377
- •Concept ID:
- C0031046
- •
- Disease or Syndrome
Inflammation of the sac-like covering around the heart (pericardium).
Peritonitis- MedGen UID:
- 14697
- •Concept ID:
- C0031154
- •
- Pathologic Function
Inflammation of the peritoneum.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Neutrophilia- MedGen UID:
- 57729
- •Concept ID:
- C0151683
- •
- Finding
Increased number of neutrophils circulating in blood.
Amyloidosis- MedGen UID:
- 272
- •Concept ID:
- C0002726
- •
- Disease or Syndrome
The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Elevated circulating amyloid A concentration- MedGen UID:
- 1788190
- •Concept ID:
- C5539521
- •
- Finding
The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.
Aphthous stomatitis- MedGen UID:
- 20959
- •Concept ID:
- C0038363
- •
- Disease or Syndrome
Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom