From HPO
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
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.
Liver abscess- MedGen UID:
- 6124
- •Concept ID:
- C0023885
- •
- Disease or Syndrome
A circumscribed area of pus or necrotic debris in the liver.
Perianal abscess- MedGen UID:
- 14677
- •Concept ID:
- C0031019
- •
- Disease or Syndrome
The presence of an abscess located around the anus.
Inflammation of the large intestine- MedGen UID:
- 662273
- •Concept ID:
- C0578878
- •
- Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Cellulitis- MedGen UID:
- 40174
- •Concept ID:
- C0007642
- •
- Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Pulmonary nodule- MedGen UID:
- 883842
- •Concept ID:
- C0034079
- •
- Finding
Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.
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.
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.
Recurrent E. coli infections- MedGen UID:
- 4543
- •Concept ID:
- C0014836
- •
- Disease or Syndrome
Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Lung abscess- MedGen UID:
- 7397
- •Concept ID:
- C0024110
- •
- Disease or Syndrome
A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.
Lymphadenitis- MedGen UID:
- 7410
- •Concept ID:
- C0024205
- •
- Disease or Syndrome
Inflammation of a lymph node.
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.
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.
Rectal abscess- MedGen UID:
- 57700
- •Concept ID:
- C0149770
- •
- Pathologic Function
A collection of pus in the area of the rectum.
Cervical lymphadenopathy- MedGen UID:
- 66724
- •Concept ID:
- C0235592
- •
- Disease or Syndrome
Enlarged lymph nodes in the neck.
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.
Granulomatosis- MedGen UID:
- 488910
- •Concept ID:
- C0521173
- •
- Disease or Syndrome
A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.
Axillary lymphadenopathy- MedGen UID:
- 107913
- •Concept ID:
- C0578735
- •
- Pathologic Function
Enlarged lymph node located in the axillary region (armpit).
Recurrent bacterial skin infections- MedGen UID:
- 322727
- •Concept ID:
- C1835686
- •
- Finding
Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.
Absence of bactericidal oxidative respiratory burst in phagocytes- MedGen UID:
- 375405
- •Concept ID:
- C1844385
- •
- Finding
An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.
Recurrent Staphylococcus aureus infections- MedGen UID:
- 392925
- •Concept ID:
- C2673462
- •
- Finding
Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Recurrent Klebsiella infections- MedGen UID:
- 867386
- •Concept ID:
- C4021751
- •
- Finding
Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
Recurrent Aspergillus infections- MedGen UID:
- 867387
- •Concept ID:
- C4021752
- •
- Finding
An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
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.
Recurrent Burkholderia cepacia infections- MedGen UID:
- 871196
- •Concept ID:
- C4025673
- •
- Finding
Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
Recurrent Serratia marcescens infections- MedGen UID:
- 871204
- •Concept ID:
- C4025682
- •
- Finding
Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
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.
Impaired oxidative burst- MedGen UID:
- 898272
- •Concept ID:
- C4280805
- •
- Laboratory or Test Result
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
Discoid lupus erythematosus- MedGen UID:
- 1811126
- •Concept ID:
- C5574816
- •
- Disease or Syndrome
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
Decreased activity of NADPH oxidase- MedGen UID:
- 336679
- •Concept ID:
- C1844394
- •
- Finding
Mediastinal lymphadenopathy- MedGen UID:
- 451062
- •Concept ID:
- C0520743
- •
- Disease or Syndrome
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
- 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 respiratory system
- Abnormality of the thoracic cavity
- Growth abnormality