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1.

Blau syndrome

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). [from GTR]

MedGen UID:
348835
Concept ID:
C1861303
Disease or Syndrome
2.

Sarcoidosis

An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin. Cardiac involvement is also possible. [from NCI]

MedGen UID:
48554
Concept ID:
C0036202
Disease or Syndrome
3.

Autoimmune state

Autoimmune Status; the state of a person's health in regard to autoimmune disease or antibody presence. [from NCI]

MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
4.

Autoimmunity

The occurrence of an immune reaction against the organism's own cells or tissues. [from HPO]

MedGen UID:
505423
Concept ID:
CN002679
Finding
5.

Sarcoidosis 1

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). [from GTR]

MedGen UID:
394568
Concept ID:
C2697310
Finding
6.

Autoimmune disease

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). [from NCI]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
7.

Genetic anticipation

A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. [from HPO]

MedGen UID:
109454
Concept ID:
C0600498
Organism Attribute
8.

Uveitis

An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. [from NCI]

MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
9.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Hypergammaglobulinemia

An increased level of gamma globulin (immunoglobulin) in the blood. [from HPO]

MedGen UID:
9362
Concept ID:
C0020455
Disease or Syndrome
11.

Inflammation

A localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
12.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
13.

Hypercalcemia

Abnormally high concentration of calcium in the peripheral blood. [from NCI]

MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome; Finding
14.

Arthritis

Acute or chronic inflammation of JOINTS. [from MeSH]

MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
15.

Increased antibody level in blood

An increased level of gamma globulin (immunoglobulin) in the blood. [from HPO]

MedGen UID:
892675
Concept ID:
C2048011
Laboratory or Test Result
16.

Early-onset sarcoidosis

MedGen UID:
833242
Concept ID:
CN229193
Finding
17.

Granulomatous inflammation

MedGen UID:
639974
Concept ID:
C0553697
Pathologic Function
18.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
19.

Illness

A state of ill health, bodily malfunction, or discomfort. [from NCI]

MedGen UID:
526241
Concept ID:
C0221423
Sign or Symptom
20.

Camptodactyly

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. [from HPO]

MedGen UID:
507335
Concept ID:
CN180568
Finding
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