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Results: 8

1.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
2.

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
3.

Diffuse Scleroderma

A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability. [from MeSH]

MedGen UID:
219839
Concept ID:
C1258104
Disease or Syndrome
4.

human leukocyte interferon

A biological response modifier (a substance that can improve the body's natural response to infection and disease). Interferons interfere with the division of cancer cells and can slow tumor growth. There are several types of interferons, including interferon-alpha, -beta, and -gamma. These substances are normally produced by the body. They are also made in the laboratory for use in treating cancer and other diseases. [from NCI]

MedGen UID:
196514
Concept ID:
C0733470
Pharmacologic Substance
5.

Scleroderma, Limited

The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma. [from MeSH]

MedGen UID:
148187
Concept ID:
C0748540
Disease or Syndrome
6.

Pelizaeus-Merzbacher disease

PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease. [from GeneReviews]

MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
7.

Systemic sclerosis

A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. [from MeSH]

MedGen UID:
19897
Concept ID:
C0036421
Disease or Syndrome
8.

Interferon

Proteins secreted by vertebrate cells in response to a wide variety of inducers. They confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions. [from MeSH]

MedGen UID:
5847
Concept ID:
C0021747
Pharmacologic Substance

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