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Items: 1 to 20 of 53

1.

Abnormality of the liver

An abnormality of the liver. [from HPO]

MedGen UID:
893061
Concept ID:
C4021780
Anatomical Abnormality
2.

Hypertyrosinemia

An increased concentration of tyrosine in the blood. [from HPO]

MedGen UID:
742296
Concept ID:
C1879362
Disease or Syndrome
3.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
4.

Tyrosinemia

A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) [from MeSH]

MedGen UID:
78682
Concept ID:
C0268483
Disease or Syndrome
5.

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
6.

Carcinoma

A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed) [from MeSH]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
7.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
8.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
9.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
10.

liver transplantation

MedGen UID:
880996
Concept ID:
CN236686
Disease or Syndrome
11.

Normal appearance

MedGen UID:
694706
Concept ID:
C1271005
Finding
12.

Clinical Significance

A finding that has treatment or management implications for a patient's condition. [from NCI]

MedGen UID:
417419
Concept ID:
C2826293
Finding
13.

Hepatocellular carcinoma

Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002). [from GTR]

MedGen UID:
389187
Concept ID:
C2239176
Neoplastic Process
14.

History

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
15.

Hepatocellular carcinoma

A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. [from HPO]

MedGen UID:
349592
Concept ID:
C1862761
Finding
16.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
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.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
19.

Tyrosinemia type I

Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets. [from GTR]

MedGen UID:
75688
Concept ID:
C0268490
Disease or Syndrome
20.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
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