From HPO
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.
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.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bronchitis- MedGen UID:
- 148159
- •Concept ID:
- C0741796
- •
- Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Agammaglobulinemia- MedGen UID:
- 168
- •Concept ID:
- C0001768
- •
- Disease or Syndrome
A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
Otitis media- MedGen UID:
- 45253
- •Concept ID:
- C0029882
- •
- Disease or Syndrome
Inflammation or infection of the middle ear.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Sinusitis- MedGen UID:
- 20772
- •Concept ID:
- C0037199
- •
- Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Severe combined immunodeficiency disease- MedGen UID:
- 88328
- •Concept ID:
- C0085110
- •
- Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
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.
Hypoplasia of the thymus- MedGen UID:
- 146347
- •Concept ID:
- C0685891
- •
- Congenital Abnormality
Underdevelopment of the thymus.
Decreased circulating IgE- MedGen UID:
- 1714318
- •Concept ID:
- C0853668
- •
- Finding
An abnormally decreased level of immunoglobulin E (IgE) in blood.
Decreased proportion of CD8-positive T cells- MedGen UID:
- 374188
- •Concept ID:
- C1839305
- •
- Finding
A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
Reduced natural killer cell activity- MedGen UID:
- 333452
- •Concept ID:
- C1839969
- •
- Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Recurrent fungal infections- MedGen UID:
- 336166
- •Concept ID:
- C1844384
- •
- Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
Recurrent bacterial meningitis- MedGen UID:
- 375697
- •Concept ID:
- C1845604
- •
- Disease or Syndrome
An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.
Combined immunodeficiency- MedGen UID:
- 751396
- •Concept ID:
- C2711630
- •
- Disease or Syndrome
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Abnormal natural killer cell count- MedGen UID:
- 866689
- •Concept ID:
- C4021036
- •
- Finding
Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.
Abnormal T cell count- MedGen UID:
- 866762
- •Concept ID:
- C4021113
- •
- Finding
A deviation from the normal count of T cells.
Abnormal B cell count- MedGen UID:
- 866853
- •Concept ID:
- C4021208
- •
- Finding
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Chronic oral candidiasis- MedGen UID:
- 870166
- •Concept ID:
- C4024599
- •
- Disease or Syndrome
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
Impaired lymphocyte transformation with phytohemagglutinin- MedGen UID:
- 871152
- •Concept ID:
- C4025625
- •
- Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Decreased proportion of CD4-positive helper T cells- MedGen UID:
- 1719772
- •Concept ID:
- C5235140
- •
- Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
Pneumocystis carinii pneumonia- MedGen UID:
- 994080
- •Concept ID:
- CN315554
- •
- Finding
Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality