From HPO
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Cellulitis- MedGen UID:
- 40174
- •Concept ID:
- C0007642
- •
- Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
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.
Chronic bronchitis- MedGen UID:
- 3084
- •Concept ID:
- C0008677
- •
- Disease or Syndrome
Chronic inflammation of the bronchi.
Chronic obstructive pulmonary disease- MedGen UID:
- 9818
- •Concept ID:
- C0024117
- •
- Disease or Syndrome
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).
Pulmonary fibrosis- MedGen UID:
- 11028
- •Concept ID:
- C0034069
- •
- Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Recurrent sinusitis- MedGen UID:
- 107919
- •Concept ID:
- C0581354
- •
- Disease or Syndrome
A recurrent form of sinusitis.
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 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.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Lymphadenitis- MedGen UID:
- 7410
- •Concept ID:
- C0024205
- •
- Disease or Syndrome
Inflammation of a lymph node.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Monocytopenia- MedGen UID:
- 507013
- •Concept ID:
- C0427544
- •
- Finding
An decreased number of circulating monocytes.
Generalized lymphadenopathy- MedGen UID:
- 96909
- •Concept ID:
- C0476486
- •
- Finding
A generalized form of lymphadenopathy.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Impaired neutrophil chemotaxis- MedGen UID:
- 895851
- •Concept ID:
- C4280709
- •
- Cell or Molecular Dysfunction
An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response
Abnormally low T cell receptor excision circle level- MedGen UID:
- 1611921
- •Concept ID:
- C4531052
- •
- Finding
Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.
Decreased lymphocyte proliferation in response to anti-CD3- MedGen UID:
- 1614554
- •Concept ID:
- C4531165
- •
- Finding
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.
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 manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
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 circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
- Abnormality of blood and blood-forming tissues
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system