From HPO
Genital ulcers- MedGen UID:
- 57716
- •Concept ID:
- C0151281
- •
- Disease or Syndrome
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.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
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).
Eosinophilia- MedGen UID:
- 41824
- •Concept ID:
- C0014457
- •
- Disease or Syndrome
Increased count of eosinophils in the blood.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Otitis media- MedGen UID:
- 45253
- •Concept ID:
- C0029882
- •
- Disease or Syndrome
Inflammation or infection of the middle ear.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Severe combined immunodeficiency disease- MedGen UID:
- 88328
- •Concept ID:
- C0085110
- •
- Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
Increased circulating IgE level- MedGen UID:
- 116018
- •Concept ID:
- C0236175
- •
- Finding
An abnormally increased overall level of immunoglobulin E in blood.
Generalized lymphadenopathy- MedGen UID:
- 96909
- •Concept ID:
- C0476486
- •
- Finding
A generalized form of lymphadenopathy.
Absent tonsils- MedGen UID:
- 154366
- •Concept ID:
- C0576999
- •
- Finding
Lack of observable tonsillar tissue.
Aplasia of the thymus- MedGen UID:
- 146900
- •Concept ID:
- C0685894
- •
- Congenital Abnormality
Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.
Panhypogammaglobulinemia- MedGen UID:
- 233072
- •Concept ID:
- C1328587
- •
- Finding
A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Lymph node hypoplasia- MedGen UID:
- 892318
- •Concept ID:
- C4025683
- •
- Finding
Underdevelopment of the lymph nodes.
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.
BCGitis- MedGen UID:
- 1684722
- •Concept ID:
- C5139070
- •
- Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Oral ulcer- MedGen UID:
- 57699
- •Concept ID:
- C0149745
- •
- Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Alopecia of scalp- MedGen UID:
- 658454
- •Concept ID:
- C0574769
- •
- Finding
Erythematous papule- MedGen UID:
- 834002
- •Concept ID:
- C0747241
- •
- Finding
A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system
- Growth abnormality