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Items: 1 to 20 of 38

1.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
2.

Limb-girdle muscular dystrophy

Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). [from HPO]

MedGen UID:
505984
Concept ID:
CN005908
Finding
3.

Muscular dystrophy

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. [from HPO]

MedGen UID:
351199
Concept ID:
C1864711
Finding
4.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a purely descriptive term, generally reserved for childhood- or adult-onset muscular dystrophies that are distinct from the much more common X-linked dystrophinopathies. LGMDs are typically nonsyndromic, with clinical involvement typically limited to skeletal muscle. Individuals with LGMD generally show weakness and wasting restricted to the limb musculature, proximal greater than distal, and muscle degeneration/regeneration on muscle biopsy. Most individuals with LGMD show relative sparing of the bulbar muscles, although exceptions occur, depending on the genetic subtype. Onset, progression, and distribution of the weakness and wasting vary considerably among individuals and genetic subtypes. [from GTR]

MedGen UID:
151940
Concept ID:
C0686353
Disease or Syndrome
5.

Muscular dystrophy

A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. [from NCI]

MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
6.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
7.

AS 2

MedGen UID:
46790
Concept ID:
C0104281
Organic Chemical; Pharmacologic Substance
8.

Methylprednisolone

A PREDNISOLONE derivative with similar anti-inflammatory action. [from MeSH]

MedGen UID:
7608
Concept ID:
C0025815
Hormone; Organic Chemical; Pharmacologic Substance
9.

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
10.

Interferon gamma

Interferon gamma (166 aa, ~19 kDa) is encoded by the human IFNG gene. This protein is involved in antiviral activity, macrophage activation, antiproliferative activity and immunopotentiation. [from NCI]

MedGen UID:
5846
Concept ID:
C0021745
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
11.

Suppression

MedGen UID:
526147
Concept ID:
C0221103
Pathologic Function
12.

Autosomal recessive limb-girdle muscular dystrophy type 2D

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy. [from ORDO]

MedGen UID:
424706
Concept ID:
C2936332
Disease or Syndrome
13.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
14.

Limb-girdle muscular dystrophy, type 2D

LGMD2D is an autosomal recessive form of muscular dystrophy mainly affecting the proximal muscles and resulting in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see 253600. [from GTR]

MedGen UID:
334108
Concept ID:
C1842550
15.

Immune suppression

MedGen UID:
326692
Concept ID:
C1840264
Disease or Syndrome
16.

Interferon

Human interferons have been classified into 3 groups: alpha, beta, and gamma. Both alpha- and beta-IFNs, previously designated type I, are acid-stable, but they differ immunologically and in regard to some biologic and physiochemical properties. The IFNs produced by virus-stimulated leukocytes (leukocyte IFNs) are predominantly of the alpha type. Those produced by lymphoblastoid cells are about 90% alpha and 10% beta. Induced fibroblasts produce mainly or exclusively the beta type. The alpha- and beta-IFNs differ widely in amino acid sequence. The gamma or immune IFNs, which are produced by T lymphocytes in response to mitogens or to antigens to which they are sensitized, are acid-labile and serologically distinct from alpha- and beta-IFNs. (from OMIM 147570) [from NCI]

MedGen UID:
196514
Concept ID:
C0733470
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
17.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
18.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
19.

Fiber

An elongated, tapering, generally thick-walled sclerenchyma cell of vascular plants; its walls may or may not be lignified. [from NCI_FDA]

MedGen UID:
68338
Concept ID:
C0225326
Organic Chemical; Pharmacologic Substance
20.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
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