From HPO
Verrucae- MedGen UID:
- 777120
- •Concept ID:
- C3665596
- •
- Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Nodular regenerative hyperplasia of the liver- MedGen UID:
- 1830387
- •Concept ID:
- C5779783
- •
- Disease or Syndrome
Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent sinusitis- MedGen UID:
- 107919
- •Concept ID:
- C0581354
- •
- Disease or Syndrome
A recurrent form of sinusitis.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Chronic sinusitis- MedGen UID:
- 101751
- •Concept ID:
- C0149516
- •
- Disease or Syndrome
A chronic form of sinusitis.
Decreased circulating IgA concentration- 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.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Neutropenia in presence of anti-neutropil antibodies- MedGen UID:
- 137947
- •Concept ID:
- C0340971
- •
- Disease or Syndrome
A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
Recurrent skin infections- MedGen UID:
- 377848
- •Concept ID:
- C1853193
- •
- Disease or Syndrome
Infections of the skin that happen multiple times.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Reduced natural killer cell count- MedGen UID:
- 383765
- •Concept ID:
- C1855767
- •
- Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Increased circulating interleukin 6 concentration- MedGen UID:
- 901461
- •Concept ID:
- C4280771
- •
- Finding
The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.
Severe varicella zoster infection- MedGen UID:
- 1688785
- •Concept ID:
- C5139168
- •
- Disease or Syndrome
An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
Partial absence of specific antibody response to unconjugated pneumococcus vaccine- MedGen UID:
- 1686478
- •Concept ID:
- C5139464
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine- MedGen UID:
- 1706490
- •Concept ID:
- C5139468
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.
Decreased proportion of naive CD8 T cells- MedGen UID:
- 1694295
- •Concept ID:
- C5139538
- •
- Finding
An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.
Decreased proportion of naive CD4 T cells- MedGen UID:
- 1705154
- •Concept ID:
- C5139539
- •
- Finding
An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.
Decreased circulating IgG concentration- 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.
Increased proportion of CD8-positive, alpha-beta TEMRA T cells- MedGen UID:
- 1717191
- •Concept ID:
- C5398015
- •
- Finding
An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
Severe influenza infection- MedGen UID:
- 1814393
- •Concept ID:
- C5676829
- •
- Disease or Syndrome
An unusually severe infection by an influenza virus.
Chronic rhinitis- MedGen UID:
- 3086
- •Concept ID:
- C0008711
- •
- Disease or Syndrome
Chronic inflammation of the nasal mucosa.
Aphthous stomatitis- MedGen UID:
- 20959
- •Concept ID:
- C0038363
- •
- Disease or Syndrome
Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Hypothyroidism- MedGen UID:
- 6991
- •Concept ID:
- C0020676
- •
- Disease or Syndrome
Deficiency of thyroid hormone.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Neoplasm