From HPO
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.
Cellulitis- MedGen UID:
- 40174
- •Concept ID:
- C0007642
- •
- Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
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.
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.
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.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (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.
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.
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.
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
Deficiency or absence of cytochrome b(-245)- MedGen UID:
- 375407
- •Concept ID:
- C1844390
- •
- Finding
- Abnormal cellular phenotype
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system