From HPO
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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.
Recurrent sinopulmonary infections- MedGen UID:
- 339549
- •Concept ID:
- C1846546
- •
- Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Asthma- MedGen UID:
- 2109
- •Concept ID:
- C0004096
- •
- Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Eczematoid dermatitis- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
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.
Decreased circulating IgA level- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (swelling) of a lymph node.
Decreased CD4:CD8 ratio- MedGen UID:
- 163125
- •Concept ID:
- C0853905
- •
- Finding
An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
Decreased T cell activation- MedGen UID:
- 339550
- •Concept ID:
- C1846550
- •
- Finding
Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
Defective B cell activation- MedGen UID:
- 375916
- •Concept ID:
- C1846551
- •
- Finding
A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of
Recurrent herpes- MedGen UID:
- 870750
- •Concept ID:
- C4025207
- •
- Finding
Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine- MedGen UID:
- 1704477
- •Concept ID:
- C5139463
- •
- Finding
The inability to synthesize postvaccination antibodies against a pneumococcus 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.
Reduced CD95-induced lymphocyte apoptosis- MedGen UID:
- 1780105
- •Concept ID:
- C5539476
- •
- Finding
Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality