From HPO
Esophagitis- MedGen UID:
- 4549
- •Concept ID:
- C0014868
- •
- Disease or Syndrome
Inflammation of the esophagus.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Thrombocytosis- MedGen UID:
- 163397
- •Concept ID:
- C0836924
- •
- Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Cholangitis- MedGen UID:
- 40258
- •Concept ID:
- C0008311
- •
- Disease or Syndrome
Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
Sclerosing cholangitis- MedGen UID:
- 3036
- •Concept ID:
- C0008313
- •
- Disease or Syndrome
Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.
Leukocytosis- MedGen UID:
- 9736
- •Concept ID:
- C0023518
- •
- Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Lymphocytosis- MedGen UID:
- 9834
- •Concept ID:
- C0024282
- •
- Disease or Syndrome
Increase in the number or proportion of lymphocytes in the blood.
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.
Decreased circulating IgA level- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Recurrent oral herpes- MedGen UID:
- 697662
- •Concept ID:
- C1274321
- •
- Disease or Syndrome
Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
BCGosis- MedGen UID:
- 823215
- •Concept ID:
- C3830467
- •
- Disease or Syndrome
Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.
Decreased proportion of class-switched memory B cells- MedGen UID:
- 892709
- •Concept ID:
- C4072925
- •
- Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Abnormal B cell proliferation- MedGen UID:
- 1621488
- •Concept ID:
- C4531167
- •
- Cell or Molecular Dysfunction
Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.
Persistent CMV viremia- MedGen UID:
- 1696514
- •Concept ID:
- C5139221
- •
- Finding
Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.
Partial absence of specific antibody response to tetanus vaccine- MedGen UID:
- 1699537
- •Concept ID:
- C5139460
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system