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1.

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
2.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
3.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
4.

liver transplantation

MedGen UID:
880996
Concept ID:
CN236686
Disease or Syndrome
5.

Recurrence (disease attribute)

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
6.

End stage liver disease

A disorder characterized by irreversible damage to the liver tissue, leading to complete liver failure. Causes include cirrhosis, viral hepatitis, metastases to the liver, genetic disorders, toxins, and drugs. [from NCI]

MedGen UID:
148174
Concept ID:
C0745744
Disease or Syndrome
7.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Abnormality of the liver

An abnormality of the liver. [from HPO]

MedGen UID:
893061
Concept ID:
C4021780
Anatomical Abnormality
9.

Progressive familial intrahepatic cholestasis type 2

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. [from ORDO]

MedGen UID:
799203
Concept ID:
CN205889
Disease or Syndrome
10.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
11.

Congenital absence

MedGen UID:
568706
Concept ID:
C0332907
Congenital Abnormality
12.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
13.

Recurrent disease

The return of a disease after a period of remission. [from NCI]

MedGen UID:
78824
Concept ID:
C0277556
Disease or Syndrome
14.

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
15.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
16.

Abnormality of the gastrointestinal tract

When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. . Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. . There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have . -Blood in your stool. -Changes in bowel habits. -Severe abdominal pain. -Unintentional weight loss. -Heartburn not relieved by antacids. NIH: National Institute of Diabetes and Digestive and Kidney Diseases .  [from MedlinePlus]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
17.

Disorder of bile duct

Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Different diseases can block the bile ducts and cause a problem with the flow of bile:. -Gallstones, which can increase pressure in the gallbladder and cause a gallbladder attack. The pain usually lasts from one to several hours. -Cancer. -Infections. -Birth defects, such as biliary atresia. It is the most common reason for liver transplants in children in the United States. -Inflammation, which can cause scarring. Over time, this can lead to liver failure. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
2240
Concept ID:
C0005395
Disease or Syndrome
18.

Biliary tract abnormality

An abnormality of the biliary tree. [from HPO]

MedGen UID:
565
Concept ID:
C0005424
Disease or Syndrome
19.

Deficiency of aminoacyltransferase

MedGen UID:
713736
Concept ID:
C1291432
Disease or Syndrome
20.

Congenital obstruction of bile duct

MedGen UID:
539789
Concept ID:
C0266244
Congenital Abnormality
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