From HPO
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Hypoplasia of the thymus- MedGen UID:
- 146347
- •Concept ID:
- C0685891
- •
- Congenital Abnormality
Underdevelopment of the thymus.
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.
Recurrent cutaneous fungal infections- MedGen UID:
- 868980
- •Concept ID:
- C4023394
- •
- Finding
Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal 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 aphthous stomatitis- MedGen UID:
- 445425
- •Concept ID:
- C2937365
- •
- Disease or Syndrome
Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the immune system