From HPO
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
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).
Ulcerative colitis- MedGen UID:
- 3532
- •Concept ID:
- C0009324
- •
- Disease or Syndrome
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Crohn disease- MedGen UID:
- 3664
- •Concept ID:
- C0010346
- •
- Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Anal fissure- MedGen UID:
- 42031
- •Concept ID:
- C0016167
- •
- Acquired Abnormality
A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Perianal abscess- MedGen UID:
- 14677
- •Concept ID:
- C0031019
- •
- Disease or Syndrome
The presence of an abscess located around the anus.
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Pleural effusion- MedGen UID:
- 10805
- •Concept ID:
- C0032227
- •
- Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Pulmonary fibrosis- MedGen UID:
- 11028
- •Concept ID:
- C0034069
- •
- Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
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.
Abscess- MedGen UID:
- 1684
- •Concept ID:
- C0000833
- •
- Disease or Syndrome
An abscess is a localized collection of purulent material surrounded by inflammation and granulation.
Acute pancreatitis- MedGen UID:
- 7872
- •Concept ID:
- C0001339
- •
- Disease or Syndrome
A acute form of pancreatitis.
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.
Granuloma- MedGen UID:
- 5376
- •Concept ID:
- C0018188
- •
- Pathologic Function
A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.
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.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Onychomycosis- MedGen UID:
- 11825
- •Concept ID:
- C0040261
- •
- Disease or Syndrome
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Rheumatoid factor positive- MedGen UID:
- 56226
- •Concept ID:
- C0151379
- •
- Laboratory or Test Result
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargement (swelling) of a lymph node.
Recurrent tonsillitis- MedGen UID:
- 1781351
- •Concept ID:
- C0740402
- •
- Disease or Syndrome
Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.
Impaired oxidative burst- MedGen UID:
- 898272
- •Concept ID:
- C4280805
- •
- Laboratory or Test Result
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
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.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality