From HPO
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Enteroviral hepatitis- MedGen UID:
- 334558
- •Concept ID:
- C1843995
- •
- Disease or Syndrome
Inflammation of the liver due to infection with enterovirus.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Infective arthritis- MedGen UID:
- 13918
- •Concept ID:
- C0003869
- •
- Disease or Syndrome
The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Conjunctivitis- MedGen UID:
- 1093
- •Concept ID:
- C0009763
- •
- Disease or Syndrome
Inflammation of the conjunctiva.
Epididymitis- MedGen UID:
- 4986
- •Concept ID:
- C0014534
- •
- Disease or Syndrome
The presence of inflammation of the epididymis.
Meningitis- MedGen UID:
- 6298
- •Concept ID:
- C0025289
- •
- Disease or Syndrome
Inflammation of the meninges.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Prostatitis- MedGen UID:
- 10965
- •Concept ID:
- C0033581
- •
- Disease or Syndrome
The presence of inflammation of the prostate.
Pyoderma- MedGen UID:
- 18783
- •Concept ID:
- C0034212
- •
- Disease or Syndrome
Any manifestation of a skin disease associated with the production of pus.
Sinusitis- MedGen UID:
- 20772
- •Concept ID:
- C0037199
- •
- Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Infectious encephalitis- MedGen UID:
- 108917
- •Concept ID:
- C0596773
- •
- Disease or Syndrome
A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.
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.
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.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Enteroviral dermatomyositis syndrome- MedGen UID:
- 812990
- •Concept ID:
- C3806660
- •
- Finding
Abnormal T cell count- MedGen UID:
- 866762
- •Concept ID:
- C4021113
- •
- Finding
A deviation from the normal count of T cells.
Absent circulating B cells- MedGen UID:
- 868166
- •Concept ID:
- C4022558
- •
- Finding
Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
Recurrent enteroviral infections- MedGen UID:
- 871203
- •Concept ID:
- C4025681
- •
- Finding
Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
Delayed puberty- MedGen UID:
- 46203
- •Concept ID:
- C0034012
- •
- Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Decreased response to growth hormone stimulation test- MedGen UID:
- 1784655
- •Concept ID:
- C5539399
- •
- Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Ear malformation
- Growth abnormality