From HPO
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive in infancy- MedGen UID:
- 358083
- •Concept ID:
- C1867873
- •
- Finding
Tube feeding- MedGen UID:
- 8641
- •Concept ID:
- C0014327
- •
- Therapeutic or Preventive Procedure
Feeding problem necessitating food and nutrient delivery via a tube.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
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.
Villous atrophy- MedGen UID:
- 154306
- •Concept ID:
- C0554101
- •
- Finding
The enteric villi are atrophic or absent.
Oligoarthritis- MedGen UID:
- 856143
- •Concept ID:
- C3892044
- •
- Disease or Syndrome
A type of arthritis that affects up to four joints in the first six months of disease.
Pulmonary fibrosis- MedGen UID:
- 11028
- •Concept ID:
- C0034069
- •
- Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
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.
Erythroderma- MedGen UID:
- 3767
- •Concept ID:
- C0011606
- •
- Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
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.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Decreased circulating IgA level- 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.
Decreased circulating IgE- MedGen UID:
- 1714318
- •Concept ID:
- C0853668
- •
- Finding
An abnormally decreased level of immunoglobulin E (IgE) in blood.
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.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Persistent EBV viremia- MedGen UID:
- 767466
- •Concept ID:
- C3554552
- •
- Finding
Persistent presence of Epstein-Barr virus in the blood.
Decreased proportion of memory B cells- MedGen UID:
- 893145
- •Concept ID:
- C4072913
- •
- Finding
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
Decreased circulating IgG level- 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.
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Growth abnormality