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Items: 19

1.

Fibrosis

Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [from MeSH]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
2.

INT-747

MedGen UID:
443722
Concept ID:
C2830015
Organic Chemical; Pharmacologic Substance
3.

Chenodiol

A bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones. [from MeSH]

MedGen UID:
40218
Concept ID:
C0008024
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
4.

UPREG

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
5.

Proximal spinal muscular atrophy

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [from ORDO]

MedGen UID:
832697
Concept ID:
CN205570
Disease or Syndrome
6.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
7.

Cataract, coppock-like

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL. [from GTR]

MedGen UID:
343810
Concept ID:
C1852438
Disease or Syndrome
8.

Thrombin

An enzyme formed from PROTHROMBIN that converts FIBRINOGEN to FIBRIN. [from MeSH]

MedGen UID:
11796
Concept ID:
C0040018
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
9.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications. [from GTR]

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
10.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
11.

Hepatic fibrosis

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. [from HPO]

MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
12.

Collagenase product

Collagenases are enzymes that degrade collagen fibers. These enzymes play an important role in connective tissue metabolism and are produced by specific cells involved in both repair and remodeling processes. [from NCI]

MedGen UID:
102454
Concept ID:
C0162745
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
13.

Tissue Inhibitor of Metalloproteinases

Tissue inhibitors of metalloproteinase. A family of proteins of around 200 residues that can inhibit enzymes of the metalloprotease type, for example collagenase, by binding to them. (DCB-CB) [from NCI]

MedGen UID:
55789
Concept ID:
C0145988
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
14.

Protease preparation

A class of enzymes that catalyze the hydrolysis of peptide bonds in the interior of a polypeptide chain or protein molecule. [from NCI]

MedGen UID:
45389
Concept ID:
C0030946
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
15.

Abnormality of the liver

A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and polycystic liver disease. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and angiosarcoma. [from NCI]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
16.

Liver Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
17.

Urso Heumann

MedGen UID:
289802
Concept ID:
C1564356
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
18.

Reduced muscle collagen VI

A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. [from HPO]

MedGen UID:
866707
Concept ID:
C4021054
Finding
19.

Chenodeoxycholic Acid, Sodium Salt

MedGen UID:
20813
Concept ID:
C0037493
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
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