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Items: 18

1.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
2.

Primary biliary cirrhosis

Primary biliary cirrhosis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. [from ORDO]

MedGen UID:
831195
Concept ID:
CN200606
Disease or Syndrome
3.

Biliary cirrhosis

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. [from HPO]

MedGen UID:
505295
Concept ID:
CN002375
Finding
4.

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:
504826
Concept ID:
CN001275
Finding
5.

Biliary cirrhosis

FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes. [from MeSH]

MedGen UID:
44182
Concept ID:
C0023892
Disease or Syndrome
6.

Liver Cirrhosis

Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
7.

Primary biliary cirrhosis

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. [from HPO]

MedGen UID:
3035
Concept ID:
C0008312
Disease or Syndrome
8.

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
9.

Risk factor

Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury. [from NCI]

MedGen UID:
48477
Concept ID:
C0035648
Finding; Quantitative Concept
10.

Abnormality of the liver

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. . Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. . Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.  [from MedlinePlus]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
11.

HLA-DR beta Ag

Transmembrane proteins that form the beta subunits of the HLA-DR antigens. They are also referred to as the HLA-DR light chains. [from MeSH]

MedGen UID:
6866
Concept ID:
C0019765
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
12.

Intrahepatic cholestasis

Impairment of bile flow due to obstruction in the small bile ducts within the liver. [from HPO]

MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
13.

Disorder of bile duct

Your liver makes a substance called bile that helps with digestion. Your gallbladder stores it until you need it to digest fat. Then your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. . Different diseases can block the bile ducts and cause a problem with the flow of bile. Gallstones are one of the most common causes of blocked bile ducts. Blocked bile ducts may also result from infection, cancer or internal scar tissue. Scarring can block the bile ducts, which can lead to liver failure. . A rare form of bile duct disease called biliary atresia occurs in infants. It is the most common reason for liver transplants in children in the United States. .  [from MedlinePlus]

MedGen UID:
2240
Concept ID:
C0005395
Disease or Syndrome
14.

Cholestasis

Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS). [from MeSH]

MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
15.

Biliary tract abnormality

An abnormality of the biliary tree. [from HPO]

MedGen UID:
565
Concept ID:
C0005424
Disease or Syndrome
16.

Primary biliary cirrhosis 1

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). Genetic Heterogeneity of Primary Biliary Cirrhosis Primary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus (161560) on chromosome 3p12-q13.2. Significant association of PBC has also been shown with SNPs at the HLA-DQB1 locus (604305) on chromosome 6p21.3 (PBC2; 613007), at the IL12RB2 locus (601642) on chromosome 1p31.2 (PBC3; 613008), at the IRF5 (607218)-TNPO3 (610032) locus on chromosome 7q32 (PBC4; 614220), and at the ZPBP2 locus (608499) on chromosome 17q12-q21 (PBC5; 614221). See also Reynolds syndrome (613471), in which primary biliary cirrhosis is a feature. [from OMIM]

MedGen UID:
834050
Concept ID:
CN029380
Disease or Syndrome
17.

Biliary cirrhosis, primary, 2

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720). [from OMIM]

MedGen UID:
442791
Concept ID:
C2751696
Disease or Syndrome
18.

HLA-DR alpha-Chains

HLA class II histocompatibility antigen, DR alpha chain (254 aa, ~29 kDa) is encoded by the human HLA-DRA gene. This protein plays a role in the presentation of antigen for recognition by CD4 T-cells. [from NCI]

MedGen UID:
5595
Concept ID:
C0019763
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
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