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.
B-cell lymphoma- MedGen UID:
- 86953
- •Concept ID:
- C0079731
- •
- Neoplastic Process
A type of lymphoma that originates in B-cells.
Vasculitis in the skin- MedGen UID:
- 488809
- •Concept ID:
- C0262988
- •
- Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.
Weight loss- MedGen UID:
- 853198
- •Concept ID:
- C1262477
- •
- Finding
Reduction of total body weight.
Colitis- MedGen UID:
- 40385
- •Concept ID:
- C0009319
- •
- Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
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.
Duodenal ulcer- MedGen UID:
- 41670
- •Concept ID:
- C0013295
- •
- Disease or Syndrome
An erosion of the mucous membrane in a portion of the duodenum.
Gastritis- MedGen UID:
- 4843
- •Concept ID:
- C0017152
- •
- Disease or Syndrome
The presence of inflammation of the gastric mucous membrane.
Hepatitis- MedGen UID:
- 5515
- •Concept ID:
- C0019158
- •
- Disease or Syndrome
Inflammation 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.
Villous atrophy- MedGen UID:
- 154306
- •Concept ID:
- C0554101
- •
- Finding
The enteric villi are atrophic or absent.
Intractable diarrhea- MedGen UID:
- 148164
- •Concept ID:
- C0743178
- •
- Disease or Syndrome
Bowel irritability- MedGen UID:
- 1784123
- •Concept ID:
- C1405426
- •
- Disease or Syndrome
Intermittent abdominal pain with diarrhea and/or constipation.
Anoperineal fistula- MedGen UID:
- 324365
- •Concept ID:
- C1835798
- •
- Anatomical Abnormality
The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.
Cholesteatoma- MedGen UID:
- 3043
- •Concept ID:
- C0008373
- •
- Disease or Syndrome
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Anorexia- MedGen UID:
- 315
- •Concept ID:
- C0003123
- •
- Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Spinal cord granuloma- MedGen UID:
- 1054664
- •Concept ID:
- CN376769
- •
- Finding
An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Osteomalacia- MedGen UID:
- 14533
- •Concept ID:
- C0029442
- •
- Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Joint swelling- MedGen UID:
- 56258
- •Concept ID:
- C0152031
- •
- Finding
The presence of swelling in a joint.
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Bronchitis- MedGen UID:
- 2736
- •Concept ID:
- C0006277
- •
- Disease or Syndrome
Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.
Osteomyelitis- MedGen UID:
- 10497
- •Concept ID:
- C0029443
- •
- Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Pustular rash- MedGen UID:
- 43222
- •Concept ID:
- C0085641
- •
- Sign or Symptom
A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargement (swelling) of a lymph node.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent skin infections- MedGen UID:
- 377848
- •Concept ID:
- C1853193
- •
- Disease or Syndrome
Infections of the skin that happen multiple times.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Reduced natural killer cell count- MedGen UID:
- 383765
- •Concept ID:
- C1855767
- •
- Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Follicular hyperplasia- MedGen UID:
- 863170
- •Concept ID:
- C4014733
- •
- Finding
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
Decreased circulating total IgA- MedGen UID:
- 871140
- •Concept ID:
- C4025611
- •
- Finding
Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
Recurrent abscess formation- MedGen UID:
- 871205
- •Concept ID:
- C4025684
- •
- Finding
An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
Decreased proportion of naive T cells- MedGen UID:
- 1611928
- •Concept ID:
- C4531152
- •
- Finding
An abnormally decreased proportion of naive T cells relative to the total number of T cells.
Decreased lymphocyte proliferation in response to mitogen- MedGen UID:
- 1615224
- •Concept ID:
- C4531166
- •
- Cell or Molecular Dysfunction
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
Decreased circulating total IgG- MedGen UID:
- 1692727
- •Concept ID:
- C5139151
- •
- Finding
A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
Hypernatremia- MedGen UID:
- 6966
- •Concept ID:
- C0020488
- •
- Disease or Syndrome
An abnormally increased sodium concentration in the blood.
Hypoalbuminemia- MedGen UID:
- 68694
- •Concept ID:
- C0239981
- •
- Finding
Reduction in the concentration of albumin in the blood.
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.
Oral ulcer- MedGen UID:
- 57699
- •Concept ID:
- C0149745
- •
- Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Postauricular pit- MedGen UID:
- 583129
- •Concept ID:
- C0395905
- •
- Acquired Abnormality
Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom
- Ear malformation
- Growth abnormality
- Neoplasm