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Items: 8

1.

Scleroderma, familial progressive

Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. [from OMIM]

MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
2.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

transplant rejection

MedGen UID:
881054
Concept ID:
CN236688
Disease or Syndrome
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.

Serpentine fibula polycystic kidney syndrome

MedGen UID:
333050
Concept ID:
C1838257
Disease or Syndrome
6.

Autoimmune disease

Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.  [from MedlinePlus]

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

Juvenile osteochondrosis of spine

Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992). [from OMIM]

MedGen UID:
830711
Concept ID:
CN116624
Finding
8.

Juvenile osteochondrosis of spine

A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISC) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS. [from MeSH]

MedGen UID:
19885
Concept ID:
C0036310
Disease or Syndrome
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